{"labels":["10q22.3q23.3 microdeletion syndrome","10q22.3q23.3 microduplication syndrome","11p15.4 microduplication syndrome","11q22.2q22.3 microdeletion syndrome","12q14 microdeletion syndrome","13q12.3 microdeletion syndrome","14q11.2 microdeletion syndrome","14q11.2 microduplication syndrome","14q22q23 microdeletion syndrome","14q24.1q24.3 microdeletion syndrome","15q overgrowth syndrome","15q11.2 microdeletion syndrome","15q11q13 microduplication syndrome","15q13.3 microdeletion syndrome","16p11.2p12.2 microdeletion syndrome","16p11.2p12.2 microduplication syndrome","16p12.1p12.3 triplication syndrome","16p13.11 microdeletion syndrome","16p13.11 microduplication syndrome","16q24.3 microdeletion syndrome","17p11.2 microduplication syndrome","17p13.3 microduplication syndrome","17q11.2 microduplication syndrome","17q12 microdeletion syndrome","17q12 microduplication syndrome","17q21.31 microduplication syndrome","17q23.1q23.2 microdeletion syndrome","17q24.2 microdeletion syndrome","19p13.12 microdeletion syndrome","19p13.13 microdeletion syndrome","19p13.3 microduplication syndrome","19q13.11 microdeletion syndrome","1p21.3 microdeletion syndrome","1p31p32 microdeletion syndrome","1p36 deletion syndrome","1q21.1 microdeletion syndrome","1q21.1 microduplication syndrome","1q41q42 microdeletion syndrome","1q44 microdeletion syndrome","2-aminoadipic 2-oxoadipic aciduria","2-methylbutyryl-CoA dehydrogenase deficiency","20p12.3 microdeletion syndrome","20p13 microdeletion syndrome","20q11.2 microdeletion syndrome","20q11.2 microduplication syndrome","20q13.33 microdeletion syndrome","21q deletion syndrome","21q22.11q22.12 microdeletion syndrome","22q11.2 deletion syndrome","22q11.2 duplication syndrome","2p15p16.1 microdeletion syndrome","2p21 microdeletion syndrome","2q23.1 microdeletion syndrome","2q23.1 microduplication syndrome","2q31.1 microdeletion syndrome","2q32q33 deletion syndrome","2q37 microdeletion syndrome","3-hydroxy-3-methylglutaric aciduria","3-hydroxy-3-methylglutaryl-CoA synthase deficiency","3-hydroxyisobutyric aciduria","3-methylcrotonyl-CoA carboxylase deficiency","3-methylglutaconic aciduria type 1","3-methylglutaconic aciduria type 3","3-methylglutaconic aciduria type 4","3-methylglutaconic aciduria type 9","3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome","3C syndrome","3M syndrome","3MC syndrome","3q13 microdeletion syndrome","3q29 microdeletion syndrome","3q29 microduplication syndrome","45,X/46,XY mixed gonadal dysgenesis","46,XX difference of sex development-anorectal anomalies syndrome","46,XX difference of sex development-skeletal anomalies syndrome","46,XX gonadal dysgenesis","46,XX ovotesticular difference of sex development","46,XX testicular difference of sex development","46,XY complete gonadal dysgenesis","46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency","46,XY difference of sex development due to 5-alpha-reductase 2 deficiency","46,XY difference of sex development due to isolated 17,20-lyase deficiency","46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency","46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome","46,XY ovotesticular difference of sex development","46,XY partial gonadal dysgenesis","47,XYY syndrome","48,XXXY syndrome","48,XXYY syndrome","48,XYYY syndrome","49,XXXXY syndrome","49,XXXYY syndrome","49,XYYYY syndrome","4H leukodystrophy","4q21 microdeletion syndrome","5-oxoprolinase deficiency","5q22 microdeletion syndrome","5q35 microduplication syndrome","6p22 microdeletion syndrome","6q terminal deletion syndrome","6q16 microdeletion syndrome","6q25.2q25.3 microdeletion syndrome","7p22.1 microduplication syndrome","7q11.23 microduplication syndrome","7q31 microdeletion syndrome","8p inverted duplication/deletion syndrome","8p11.2 deletion syndrome","8p23.1 duplication syndrome","8p23.1 microdeletion syndrome","8q12 microduplication syndrome","8q21.11 microdeletion syndrome","8q22.1 microdeletion syndrome","8q24.3 microdeletion syndrome","9p13 microdeletion syndrome","9q21.13 microdeletion syndrome","9q31.1q31.3 microdeletion syndrome","9q33.3q34.11 microdeletion syndrome","AA amyloidosis","AApoAIV amyloidosis","Aarskog-Scott syndrome","Aase-Smith syndrome type 1","Abetalipoproteinemia","Ablepharon macrostomia syndrome","Abnormal origin of right or left pulmonary artery from the aorta","Abruzzo-Erickson syndrome","Absence deformity of leg-cataract syndrome","Absence of fingerprints-congenital milia syndrome","Absence of the pulmonary artery","Absent radius-anogenital anomalies syndrome","Acalvaria","Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome","Acatalasemia","Aceruloplasminemia","Acetazolamide-responsive myotonia","Achalasia-microcephaly syndrome","Achondrogenesis","Achondroplasia","Achromatopsia","Acitretin/etretinate embryopathy","Acquired generalized lipodystrophy","Acquired hypertrichosis lanuginosa","Acquired ichthyosis","Acquired idiopathic sideroblastic anemia","Acquired methemoglobinemia","Acquired partial lipodystrophy","Acquired purpura fulminans","Acquired von Willebrand syndrome","Acral peeling skin syndrome","Acral self-healing collodion baby","Acro-renal-mandibular syndrome","Acro-renal-ocular syndrome","Acrocapitofemoral dysplasia","Acrocardiofacial syndrome","Acrocephalopolydactyly","Acrocraniofacial dysostosis","Acrodermatitis enteropathica","Acrodysostosis","Acrodysplasia scoliosis","Acrofacial dysostosis, Catania type","Acrofacial dysostosis, Palagonia type","Acrofacial dysostosis, Rodríguez type","Acrofacial dysostosis, Weyers type","Acrofrontofacionasal dysostosis","Acrogeria","Acrokeratoelastoidosis of Costa","Acrokeratosis verruciformis of Hopf","Acromegaly","Acromelic frontonasal dysplasia","Acromesomelic dysplasia, Grebe type","Acromesomelic dysplasia, Hunter-Thompson type","Acromesomelic dysplasia, Maroteaux type","Acromicric dysplasia","Acrootoocular syndrome","Acropectoral syndrome","Acropectorovertebral dysplasia","Acrorenal syndrome","Activated PI3K-delta syndrome 1","Activated PI3K-delta syndrome 2","Acute adrenal insufficiency","Acute bilirubin encephalopathy","Acute disseminated encephalomyelitis","Acute encephalopathy with biphasic seizures and late reduced diffusion","Acute erythroid leukemia","Acute generalized exanthematous pustulosis","Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome","Acute inflammatory demyelinating polyradiculoneuropathy","Acute intermittent porphyria","Acute interstitial pneumonia","Acute liver failure","Acute monoblastic/monocytic leukemia","Acute myelomonocytic leukemia","Acute panmyelosis with myelofibrosis","Acute promyelocytic leukemia","Acute transverse myelitis","Acute zonal occult outer retinopathy","Acyl-CoA dehydrogenase 9 deficiency","Adamantinoma","Adams-Oliver syndrome","Addison disease","Adenine phosphoribosyltransferase deficiency","Adenocarcinoma of the anal canal","Adenocarcinoma of the oesophagus and oesophagogastric junction","Adenohypophysitis","Adenosine monophosphate deaminase deficiency","Adenylosuccinate lyase deficiency","Adenylosuccinate synthetase-like 1-related distal myopathy","Adiposis dolorosa","Adrenocortical carcinoma","Adrenocortical carcinoma with pure aldosterone hypersecretion","Adrenomyodystrophy","Adult acute respiratory distress syndrome","Adult idiopathic neutropenia","Adult Refsum disease","ADULT syndrome","Adult-onset autosomal dominant leukodystrophy","Adult-onset autosomal recessive cerebellar ataxia","Adult-onset cervical dystonia, DYT23 type","Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy","Adult-onset distal myopathy due to VCP mutation","Adult-onset foveomacular vitelliform dystrophy","Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency","Adult-onset nemaline myopathy","Adult-onset Still disease","African trypanosomiasis","Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome","AGel amyloidosis","Aggressive systemic mastocytosis","Agnathia-holoprosencephaly-situs inversus syndrome","AH amyloidosis","AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome","Ahmad syndrome","AICA-ribosiduria","Aicardi syndrome","Aicardi-Goutières syndrome","Airway infantile hemangioma","AKT2-related familial partial lipodystrophy","AL amyloidosis","Alacrimia-choreoathetosis-liver dysfunction syndrome","Alagille syndrome","Alar cartilages hypoplasia-coloboma-telecanthus syndrome","Alazami syndrome","Albers-Schönberg osteopetrosis","Albinism-deafness syndrome","ALECT2 amyloidosis","Alexander disease","ALG1-CDG","ALG11-CDG","ALG12-CDG","ALG13-CDG","ALG2-CDG","ALG3-CDG","ALG6-CDG","ALG8-CDG","ALG9-CDG","Alkaptonuria","Allan-Herndon-Dudley syndrome","Allergic bronchopulmonary aspergillosis","Alopecia antibody deficiency","Alopecia totalis","Alopecia universalis","Alopecia-contractures-dwarfism-intellectual disability syndrome","Alopecia-epilepsy-pyorrhea-intellectual disability syndrome","Alopecia-intellectual disability syndrome","Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome","Alpers-Huttenlocher syndrome","Alpha-1-antitrypsin deficiency","Alpha-B crystallin-related late-onset myopathy","Alpha-dystroglycan-related limb-girdle muscular dystrophy R16","Alpha-mannosidosis","Alpha-N-acetylgalactosaminidase deficiency","Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3","Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16","Alpha-thalassemia-myelodysplastic syndrome","Alport syndrome","Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome","Alström syndrome","Alternating hemiplegia of childhood","Alveolar echinococcosis","Amaurosis-hypertrichosis syndrome","Amelo-onycho-hypohidrotic syndrome","Amelocerebrohypohidrotic syndrome","Amelogenesis imperfecta","American trypanosomiasis","Aminoacylase 1 deficiency","Aminopterin/methotrexate embryofetopathy","Amish lethal microcephaly","Amish nemaline myopathy","Amniotic band syndrome","Amoebiasis due to Entamoeba histolytica","Amoebiasis due to free-living amoebae","Amoebic keratitis","Amyotrophic lateral sclerosis","Amyotrophic lateral sclerosis type 4","Anaplastic thyroid carcinoma","Andersen-Tawil syndrome","ANE syndrome","Aneurysm of sinus of Valsalva","Aneurysm-osteoarthritis syndrome","Angel-shaped phalango-epiphyseal dysplasia","Angelman syndrome","Angioma serpiginosum","Angiostrongyliasis","Aniridia-absent patella syndrome","Aniridia-cerebellar ataxia-intellectual disability syndrome","Aniridia-intellectual disability syndrome","Aniridia-ptosis-intellectual disability-familial obesity syndrome","Aniridia-renal agenesis-psychomotor retardation syndrome","ANK3-related intellectual disability-sleep disturbance syndrome","Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome","Ankylosing vertebral hyperostosis with tylosis","Annular pancreas","Anoctamin-5-related limb-girdle muscular dystrophy R12","Anonychia with flexural pigmentation","Anonychia-microcephaly syndrome","Anophthalmia plus syndrome","Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome","Anophthalmia/microphthalmia-esophageal atresia syndrome","Anterior cutaneous nerve entrapment syndrome","Anti-glomerular basement membrane disease","Antiphospholipid syndrome","Antisynthetase syndrome","Antley-Bixler syndrome","Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome","Aortic arch interruption","Aorto-ventricular tunnel","Apert syndrome","Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome","Aphalangy-syndactyly-microcephaly syndrome","Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome","Aplasia cutis congenita","Aplasia cutis congenita-intestinal lymphangiectasia syndrome","Aplasia cutis-myopia syndrome","Apnea of prematurity","Apolipoprotein A-I deficiency","Apparent mineralocorticoid excess","Aquagenic palmoplantar keratoderma","Arachnodactyly-abnormal ossification-intellectual disability syndrome","Arachnoiditis","AREDYLD syndrome","Arginine vasopressin deficiency","Arginine vasopressin resistance","Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome","Argininemia","Argininosuccinic aciduria","Arnold-Chiari malformation type I","Aromatase deficiency","Aromatase excess syndrome","Aromatic L-amino acid decarboxylase deficiency","Arterial dissection-lentiginosis syndrome","Arterial tortuosity syndrome","Arthrochalasia Ehlers-Danlos syndrome","Arthrogryposis multiplex congenita-whistling face syndrome","Arthrogryposis-like hand anomaly-sensorineural deafness syndrome","Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome","Arthrogryposis-renal dysfunction-cholestasis syndrome","Asbestos intoxication","Ascher syndrome","Aseptic abscess syndrome","Asherman syndrome","Aspartylglucosaminuria","Aspergillosis","Astley-Kendall dysplasia","Ataxia with vitamin E deficiency","Ataxia-deafness-intellectual disability syndrome","Ataxia-hypogonadism-choroidal dystrophy syndrome","Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome","Ataxia-oculomotor apraxia type 1","Ataxia-oculomotor apraxia type 4","Ataxia-pancytopenia syndrome","Ataxia-photosensitivity-short stature syndrome","Ataxia-tapetoretinal degeneration syndrome","Ataxia-telangiectasia","Ataxia-telangiectasia-like disorder","Atelosteogenesis type I","Atelosteogenesis type II","Atelosteogenesis type III","Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome","Athyreosis","Atkin-Flaitz syndrome","Atopic keratoconjunctivitis","Atresia of urethra","Atrial septal defect-atrioventricular conduction defects syndrome","Atrioventricular defect-blepharophimosis-radial and anal defect syndrome","Atrophoderma vermiculata","Attenuated Chédiak-Higashi syndrome","Attenuated familial adenomatous polyposis","Atypical hemolytic uremic syndrome","Atypical juvenile parkinsonism","Atypical Rett syndrome","Atypical teratoid rhabdoid tumor","Atypical Werner syndrome","Atypical/leaky severe combined immunodeficiency due to partial RAG defect","Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome","Auriculocondylar syndrome","Auriculoosteodysplasia","Autism spectrum disorder due to AUTS2 deficiency","Autism spectrum disorder-epilepsy-arthrogryposis syndrome","Autoerythrocyte sensitization syndrome","Autoimmune hemolytic anemia, warm type","Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency","Autoimmune hepatitis","Autoimmune hypoparathyroidism","Autoimmune limbic encephalitis","Autoimmune lymphoproliferative syndrome","Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency","Autoimmune polyendocrinopathy type 1","Autoimmune polyendocrinopathy type 2","Autoimmune polyendocrinopathy type 3","Autoimmune polyendocrinopathy type 4","Autoimmune pulmonary alveolar proteinosis","Autosomal dominant adult-onset proximal spinal muscular atrophy","Autosomal dominant brachyolmia","Autosomal dominant centronuclear myopathy","Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome","Autosomal dominant Charcot-Marie-Tooth disease type 2A2","Autosomal dominant Charcot-Marie-Tooth disease type 2E","Autosomal dominant Charcot-Marie-Tooth disease type 2F","Autosomal dominant Charcot-Marie-Tooth disease type 2K","Autosomal dominant Charcot-Marie-Tooth disease type 2W","Autosomal dominant Charcot-Marie-Tooth disease type 2Y","Autosomal dominant Charcot-Marie-Tooth disease type 2Z","Autosomal dominant congenital benign spinal muscular atrophy","Autosomal dominant cutis laxa","Autosomal dominant deafness-onychodystrophy syndrome","Autosomal dominant dopa-responsive dystonia","Autosomal dominant drusen","Autosomal dominant epidermolytic ichthyosis","Autosomal dominant focal dystonia, DYT25 type","Autosomal dominant generalized dystrophic epidermolysis bullosa","Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form","Autosomal dominant generalized epidermolysis bullosa simplex, severe form","Autosomal dominant hereditary chronic pancreatitis","Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency","Autosomal dominant hyperinsulinism due to Kir6.2 deficiency","Autosomal dominant hyperinsulinism due to SUR1 deficiency","Autosomal dominant hypophosphatemic rickets","Autosomal dominant keratitis","Autosomal dominant macrothrombocytopenia","Autosomal dominant mitochondrial myopathy with exercise intolerance","Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome","Autosomal dominant optic atrophy and cataract","Autosomal dominant optic atrophy plus syndrome","Autosomal dominant optic atrophy, classic form","Autosomal dominant otospondylomegaepiphyseal dysplasia","Autosomal dominant palmoplantar keratoderma and congenital alopecia","Autosomal dominant polycystic kidney disease","Autosomal dominant popliteal pterygium syndrome","Autosomal dominant prognathism","Autosomal dominant progressive external ophthalmoplegia","Autosomal dominant severe congenital neutropenia","Autosomal dominant spastic ataxia type 1","Autosomal dominant spastic paraplegia type 10","Autosomal dominant spastic paraplegia type 12","Autosomal dominant spastic paraplegia type 13","Autosomal dominant spastic paraplegia type 17","Autosomal dominant spastic paraplegia type 19","Autosomal dominant spastic paraplegia type 29","Autosomal dominant spastic paraplegia type 3","Autosomal dominant spastic paraplegia type 31","Autosomal dominant spastic paraplegia type 36","Autosomal dominant spastic paraplegia type 37","Autosomal dominant spastic paraplegia type 38","Autosomal dominant spastic paraplegia type 4","Autosomal dominant spastic paraplegia type 41","Autosomal dominant spastic paraplegia type 42","Autosomal dominant spastic paraplegia type 6","Autosomal dominant spastic paraplegia type 73","Autosomal dominant spastic paraplegia type 8","Autosomal dominant spastic paraplegia type 9A","Autosomal dominant spastic paraplegia type 9B","Autosomal dominant spondylocostal dysostosis","Autosomal dominant striatal neurodegeneration","Autosomal erythropoietic protoporphyria","Autosomal recessive ataxia due to PEX10 deficiency","Autosomal recessive ataxia due to ubiquinone deficiency","Autosomal recessive ataxia, Beauce type","Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect","Autosomal recessive axonal neuropathy with neuromyotonia","Autosomal recessive centronuclear myopathy","Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency","Autosomal recessive cerebellar ataxia due to STUB1 deficiency","Autosomal recessive cerebellar ataxia with late-onset spasticity","Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency","Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency","Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency","Autosomal recessive cerebellar ataxia-movement disorder syndrome","Autosomal recessive cerebellar ataxia-psychomotor delay syndrome","Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome","Autosomal recessive cerebelloparenchymal disorder type 3","Autosomal recessive Charcot-Marie-Tooth disease with hoarseness","Autosomal recessive chorioretinopathy-microcephaly syndrome","Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction","Autosomal recessive cutis laxa type 1","Autosomal recessive cutis laxa type 2A","Autosomal recessive distal nebulin myopathy","Autosomal recessive distal osteolysis syndrome","Autosomal recessive dopa-responsive dystonia","Autosomal recessive faciodigitogenital syndrome","Autosomal recessive frontotemporal pachygyria","Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form","Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form","Autosomal recessive generalized epidermolysis bullosa simplex","Autosomal recessive hyperinsulinism due to Kir6.2 deficiency","Autosomal recessive hypophosphatemic rickets","Autosomal recessive malignant osteopetrosis","Autosomal recessive methemoglobinemia","Autosomal recessive multiple pterygium syndrome","Autosomal recessive myogenic arthrogryposis multiplex congenita","Autosomal recessive otospondylomegaepiphyseal dysplasia","Autosomal recessive palmoplantar keratoderma and congenital alopecia","Autosomal recessive polycystic kidney disease","Autosomal recessive progressive external ophthalmoplegia","Autosomal recessive spastic ataxia of Charlevoix-Saguenay","Autosomal recessive spastic ataxia with leukoencephalopathy","Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome","Autosomal recessive spastic paraplegia type 11","Autosomal recessive spastic paraplegia type 14","Autosomal recessive spastic paraplegia type 20","Autosomal recessive spastic paraplegia type 21","Autosomal recessive spastic paraplegia type 23","Autosomal recessive spastic paraplegia type 24","Autosomal recessive spastic paraplegia type 25","Autosomal recessive spastic paraplegia type 26","Autosomal recessive spastic paraplegia type 27","Autosomal recessive spastic paraplegia type 28","Autosomal recessive spastic paraplegia type 32","Autosomal recessive spastic paraplegia type 35","Autosomal recessive spastic paraplegia type 39","Autosomal recessive spastic paraplegia type 43","Autosomal recessive spastic paraplegia type 44","Autosomal recessive spastic paraplegia type 45","Autosomal recessive spastic paraplegia type 46","Autosomal recessive spastic paraplegia type 48","Autosomal recessive spastic paraplegia type 53","Autosomal recessive spastic paraplegia type 54","Autosomal recessive spastic paraplegia type 55","Autosomal recessive spastic paraplegia type 56","Autosomal recessive spastic paraplegia type 57","Autosomal recessive spastic paraplegia type 59","Autosomal recessive spastic paraplegia type 5A","Autosomal recessive spastic paraplegia type 60","Autosomal recessive spastic paraplegia type 61","Autosomal recessive spastic paraplegia type 62","Autosomal recessive spastic paraplegia type 63","Autosomal recessive spastic paraplegia type 64","Autosomal recessive spastic paraplegia type 66","Autosomal recessive spastic paraplegia type 67","Autosomal recessive spastic paraplegia type 69","Autosomal recessive spastic paraplegia type 70","Autosomal recessive spastic paraplegia type 71","Autosomal recessive spastic paraplegia type 74","Autosomal recessive spastic paraplegia type 75","Autosomal recessive spastic paraplegia type 76","Autosomal recessive spastic paraplegia type 77","Autosomal recessive spastic paraplegia type 78","Autosomal recessive spastic paraplegia type 9B","Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome","Autosomal recessive spondylocostal dysostosis","Autosomal semi-dominant severe lipodystrophic laminopathy","Autosomal spastic paraplegia type 18","Autosomal spastic paraplegia type 30","Autosomal spastic paraplegia type 58","Autosomal spastic paraplegia type 72","Avian influenza","Axenfeld-Rieger syndrome","Axial mesodermal dysplasia spectrum","Axial spondylometaphyseal dysplasia","AXIN2-related polyposis","Aymé-Gripp syndrome","B4GALT1-CDG","Babesiosis","Bacterial toxic-shock syndrome","Bainbridge-Ropers syndrome","Baller-Gerold syndrome","Bamforth-Lazarus syndrome","Bangstad syndrome","Banki syndrome","Baraitser-Winter cerebrofrontofacial syndrome","Barber-Say syndrome","Bardet-Biedl syndrome","Barth syndrome","Bartsocas-Papas syndrome","Bartter syndrome","Basel-Vanagaite-Smirin-Yosef syndrome","Bathing suit ichthyosis","Bazex syndrome","Bazex-Dupré-Christol syndrome","Becker muscular dystrophy","Becker nevus syndrome","Beckwith-Wiedemann syndrome","Beemer-Ertbruggen syndrome","Behavioral variant of frontotemporal dementia","Behçet disease","Bencze syndrome","Benign cephalic histiocytosis","Benign hereditary chorea","Benign paroxysmal tonic upgaze of childhood with ataxia","Benign paroxysmal torticollis of infancy","Benign recurrent intrahepatic cholestasis","Benign Samaritan congenital myopathy","Benign schwannoma","Bernard-Soulier syndrome","Best vitelliform macular dystrophy","Beta-ketothiolase deficiency","Beta-mannosidosis","Beta-mercaptolactate cysteine disulfiduria","Beta-propeller protein-associated neurodegeneration","Beta-sarcoglycan-related limb-girdle muscular dystrophy R4","Beta-thalassemia intermedia","Beta-thalassemia major","Beta-thalassemia-X-linked thrombocytopenia syndrome","Beta-ureidopropionase deficiency","Bethlem muscular dystrophy","Bickerstaff brainstem encephalitis","Biemond syndrome type 2","Bietti crystalline dystrophy","Bifid nose","Bifid uvula","Bilateral acute depigmentation of the iris","Bilateral polymicrogyria","Bilateral striopallidodentate calcinosis","Biotinidase deficiency","Birdshot chorioretinopathy","Birk-Barel syndrome","Birt-Hogg-Dubé syndrome","Björnstad syndrome","Blau syndrome","Blepharo-cheilo-odontic syndrome","Blepharonasofacial malformation syndrome","Blepharophimosis-intellectual disability syndrome, MKB type","Blepharophimosis-intellectual disability syndrome, Ohdo type","Blepharophimosis-intellectual disability syndrome, SBBYS type","Blepharophimosis-intellectual disability syndrome, Verloes type","Blepharophimosis-ptosis-epicanthus inversus syndrome","Blepharophimosis-ptosis-epicanthus inversus syndrome plus","Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome","Blepharoptosis-myopia-ectopia lentis syndrome","Blindness-scoliosis-arachnodactyly syndrome","Blomstrand lethal chondrodysplasia","Bloom syndrome","Blount disease","Blue cone monochromatism","Blue diaper syndrome","Blue rubber bleb nevus syndrome","BNAR syndrome","Body integrity dysphoria","Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency","Bohring-Opitz syndrome","Bonnemann-Meinecke-Reich syndrome","Boomerang dysplasia","BOR syndrome","Borjeson-Forssman-Lehmann syndrome","Bothnia retinal dystrophy","Botulism","Boutonneuse fever","Bowen-Conradi syndrome","Brachydactylous dwarfism, Mseleni type","Brachydactyly type A1","Brachydactyly type A2","Brachydactyly type A4","Brachydactyly type A7","Brachydactyly type B","Brachydactyly type C","Brachydactyly type E","Brachydactyly-arterial hypertension syndrome","Brachydactyly-elbow wrist dysplasia syndrome","Brachydactyly-mesomelia-intellectual disability-heart defects syndrome","Brachydactyly-preaxial hallux varus syndrome","Brachydactyly-short stature-retinitis pigmentosa syndrome","Brachydactyly-syndactyly, Zhao type","Brachymorphism-onychodysplasia-dysphalangism syndrome","Brachyolmia, Maroteaux type","Brachytelephalangic chondrodysplasia punctata","Brachytelephalangy-dysmorphism-Kallmann syndrome","Braddock syndrome","Bradyopsia","Brain arteriovenous malformation, nidus type","Brain dopamine-serotonin vesicular transport disease","Brain malformation-congenital heart disease-postaxial polydactyly syndrome","Brain-lung-thyroid syndrome","Branchio-oculo-facial syndrome","Branchiogenic deafness syndrome","Branchiootic syndrome","Branchioskeletogenital syndrome","BRESEK syndrome","Brittle cornea syndrome","Bronchial neuroendocrine tumor","Bronchogenic cyst","Bronchopulmonary dysplasia","Brooke-Spiegler syndrome","Brucellosis","Bruck syndrome","Brugada syndrome","Budd-Chiari syndrome","Buerger disease","Bullous impetigo","Bullous lichen planus","Bullous pemphigoid","Burkitt lymphoma","Burn-McKeown syndrome","Burning mouth syndrome","Böök syndrome","C syndrome","CACH syndrome","CADASIL","CADDS","Caffey disease","Calciphylaxis","Calpain-3-related limb-girdle muscular dystrophy R1","CAMOS syndrome","Campomelia, Cumming type","Campomelic dysplasia","Camptobrachydactyly","Camptodactyly syndrome, Guadalajara type 1","Camptodactyly syndrome, Guadalajara type 2","Camptodactyly syndrome, Guadalajara type 3","Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome","Camptodactyly-joint contractures-facial skeletal defects syndrome","Camptodactyly-tall stature-scoliosis-hearing loss syndrome","Camptodactyly-taurinuria syndrome","Camurati-Engelmann disease","Canavan disease","Cancer-associated retinopathy","Cantú syndrome","Cap myopathy","Cap polyposis","Capillary-lymphatic-venous malformation with segmental distribution","Carbamoyl-phosphate synthetase 1 deficiency","Carcinoid syndrome","Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome","Cardiac diverticulum","Cardiac-valvular Ehlers-Danlos syndrome","Cardiocranial syndrome, Pfeiffer type","Cardiofaciocutaneous syndrome","Cardiomyopathy-cataract-hip spine disease syndrome","Cardiomyopathy-hypotonia-lactic acidosis syndrome","Cardiospondylocarpofacial syndrome","Carey-Fineman-Ziter syndrome","Caribbean parkinsonism","Carney complex","Carney triad","Carney-Stratakis syndrome","Carnitine palmitoyl transferase 1A deficiency","Carnitine palmitoyltransferase II deficiency","Carnitine-acylcarnitine translocase deficiency","Carnosinase deficiency","Caroli disease","Caroli syndrome","Carpenter syndrome","Cartilage-hair hypoplasia","Carvajal syndrome","Castleman disease","Cat-eye syndrome","Cat-scratch disease","Cataract-aberrant oral frenula-growth delay syndrome","Cataract-ataxia-deafness syndrome","Cataract-deafness-hypogonadism syndrome","Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome","Cataract-hypertrichosis-intellectual disability syndrome","Cataract-intellectual disability-hypogonadism syndrome","Cataract-microcornea syndrome","Cataract-nephropathy-encephalopathy syndrome","Catastrophic antiphospholipid syndrome","Catecholaminergic polymorphic ventricular tachycardia","Caudal appendage-deafness syndrome","Caudal duplication","Caudal regression syndrome","CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome","CDKL5-deficiency disorder","CEDNIK syndrome","Cenani-Lenz syndrome","Central areolar choroidal dystrophy","Central core disease","Central neurocytoma","Centrifugal lipodystrophy","Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome","Cerebellar ataxia, Cayman type","Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome","Cerebellar ataxia-ectodermal dysplasia syndrome","Cerebellar ataxia-hypogonadism syndrome","Cerebellar hypoplasia-tapetoretinal degeneration syndrome","Cerebellar-facial-dental syndrome","Cerebello-oculo-facio-genital syndrome","Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy","Cerebral visual impairment","Cerebrocostomandibular syndrome","Cerebrofacioarticular syndrome","Cerebrofaciothoracic dysplasia","Cerebrooculonasal syndrome","Cerebrotendinous xanthomatosis","Cernunnos-XLF deficiency","Cervical hypertrichosis-peripheral neuropathy syndrome","CHAND syndrome","Char syndrome","Charcot-Marie-Tooth disease type 1A","Charcot-Marie-Tooth disease type 1B","Charcot-Marie-Tooth disease type 1E","Charcot-Marie-Tooth disease type 1F","Charcot-Marie-Tooth disease type 2B1","Charcot-Marie-Tooth disease type 4A","Charcot-Marie-Tooth disease type 4B2","Charcot-Marie-Tooth disease type 4C","Charcot-Marie-Tooth disease type 4D","Charcot-Marie-Tooth disease type 4G","Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome","CHARGE syndrome","Charlie M syndrome","Cheilitis glandularis","Cherubism","Chikungunya","Chilblain lupus","CHILD syndrome","Childhood absence epilepsy","Childhood disintegrative disorder","Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia","Childhood-onset benign chorea with striatal involvement","Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder","Childhood-onset nemaline myopathy","Childhood-onset schizophrenia","Childhood-onset spasticity with hyperglycinemia","CHIME syndrome","Choanal atresia","Cholangiocarcinoma","Cholera","Cholestasis-lymphedema syndrome","Chondrodysplasia-difference of sex development syndrome","Chondroectodermal dysplasia with night blindness","Choreoacanthocytosis","Choroidal atrophy-alopecia syndrome","Choroideremia","Christianson syndrome","Chromomycosis","Chromosome Y microdeletion syndrome","Chronic actinic dermatitis","Chronic beryllium disease","Chronic bilirubin encephalopathy","Chronic diarrhea due to glucoamylase deficiency","Chronic granulomatous disease","Chronic hiccup","Chronic inflammatory demyelinating polyneuropathy","Chronic intestinal pseudoobstruction syndrome","Chronic mucocutaneous candidiasis","Chronic myeloid leukemia","Chronic neurovisceral acid sphingomyelinase deficiency","Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis","Chronic pneumonitis of infancy","Chronic thromboembolic pulmonary hypertension","Chronic visceral acid sphingomyelinase deficiency","CHST3-related skeletal dysplasia","Chudley-McCullough syndrome","Chylomicron retention disease","Chylous ascites","Chédiak-Higashi syndrome","CIDEC-related familial partial lipodystrophy","CINCA syndrome","Circumscribed palmoplantar hypokeratosis","Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome","Citrullinemia type I","Citrullinemia type II","CK syndrome","CLAPO syndrome","Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency","Classic galactosemia","Classic glucose transporter type 1 deficiency syndrome","Classic heparin-induced thrombocytopenia","Classic Hodgkin lymphoma","Classic mycosis fungoides","Classical Ehlers-Danlos syndrome","Classical-like Ehlers-Danlos syndrome type 1","Classical-like Ehlers-Danlos syndrome type 2","CLCN4-related X-linked intellectual disability syndrome","Cleft hard palate","Cleft lip and alveolus","Cleft lip/palate","Cleft lip/palate-deafness-sacral lipoma syndrome","Cleft lip/palate-ectodermal dysplasia syndrome","Cleft lip/palate-intestinal malrotation-cardiopathy syndrome","Cleft palate-large ears-small head syndrome","Cleft palate-lateral synechia syndrome","Cleft palate-short stature-vertebral anomalies syndrome","Cleft palate-stapes fixation-oligodontia syndrome","Cleft velum","Cleidocranial dysplasia","Cleidorhizomelic syndrome","CLN12 disease","Cloverleaf skull-multiple congenital anomalies syndrome","CLOVES syndrome","CNTNAP2-related developmental and epileptic encephalopathy","Coarctation of aorta","COASY protein-associated neurodegeneration","Coats disease","Cobblestone lissencephaly without muscular or ocular involvement","Cocaine embryofetopathy","Cocaine intoxication","Coccidioidomycosis","Cochleosaccular degeneration-cataract syndrome","Cockayne syndrome","CODAS syndrome","Coffin-Lowry syndrome","Coffin-Siris syndrome","COG1-CDG","COG2-CDG","COG4-CDG","COG5-CDG","COG7-CDG","COG8-CDG","Cogan syndrome","Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome","Cohen syndrome","COL4A1/2-related familial vascular leukoencephalopathy","Cold agglutinin disease","Cole-Carpenter syndrome","Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome","Colonic atresia","Combined deficiency of factor V and factor VIII","Combined hamartoma of the retina and retinal pigment epithelium","Combined immunodeficiency due to CRAC channel dysfunction","Combined immunodeficiency due to DOCK8 deficiency","Combined immunodeficiency due to ZAP70 deficiency","Combined immunodeficiency with facio-oculo-skeletal anomalies","Combined immunodeficiency-multiple intestinal atresia","Combined malonic and methylmalonic acidemia","Combined oxidative phosphorylation defect type 13","Combined oxidative phosphorylation defect type 23","Combined oxidative phosphorylation defect type 27","Combined oxidative phosphorylation defect type 29","Combined oxidative phosphorylation defect type 39","Combined oxidative phosphorylation defect type 7","Combined pituitary hormone deficiencies, genetic forms","Common arterial trunk","Complete androgen insensitivity syndrome","Complete atrioventricular septal defect","Complex regional pain syndrome","Conductive deafness-malformed external ear syndrome","Conductive deafness-ptosis-skeletal anomalies syndrome","Cone rod dystrophy","Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency","Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency","Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency","Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency","Congenital alpha2-antiplasmin deficiency","Congenital alveolar capillary dysplasia","Congenital amegakaryocytic thrombocytopenia","Congenital analbuminemia","Congenital aortic valve stenosis","Congenital atransferrinemia","Congenital bilateral absence of vas deferens","Congenital bile acid synthesis defect type 1","Congenital bile acid synthesis defect type 2","Congenital bile acid synthesis defect type 3","Congenital bile acid synthesis defect type 4","Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome","Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome","Congenital cataracts-facial dysmorphism-neuropathy syndrome","Congenital central hypoventilation syndrome","Congenital cerebellar ataxia due to RNU12 mutation","Congenital contractural arachnodactyly","Congenital diaphragmatic hernia","Congenital dyserythropoietic anemia type III","Congenital enterocyte heparan sulfate deficiency","Congenital enterovirus infection","Congenital erythropoietic porphyria","Congenital factor II deficiency","Congenital factor V deficiency","Congenital factor VII deficiency","Congenital factor X deficiency","Congenital factor XI deficiency","Congenital factor XII deficiency","Congenital factor XIII deficiency","Congenital fiber-type disproportion myopathy","Congenital fibrinogen deficiency","Congenital fibrosis of extraocular muscles","Congenital generalized lipodystrophy","Congenital Gerbode defect","Congenital glaucoma","Congenital glucokinase-related hyperinsulinism","Congenital heart block","Congenital heart defect-round face-developmental delay syndrome","Congenital hereditary endothelial dystrophy type II","Congenital herpes simplex virus infection","Congenital hydrocephalus","Congenital hyperinsulinism due to HNF4A deficiency","Congenital hypothyroidism due to maternal intake of antithyroid drugs","Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies","Congenital ichthyosiform erythroderma","Congenital ichthyosis-microcephalus-tetraplegia syndrome","Congenital infiltrating lipomatosis of the face","Congenital insensitivity to pain with severe intellectual disability","Congenital intrinsic factor deficiency","Congenital isolated ACTH deficiency","Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type","Congenital laryngomalacia","Congenital left ventricular aneurysm","Congenital lethal erythroderma","Congenital limbs-face contractures-hypotonia-developmental delay syndrome","Congenital lipoid adrenal hyperplasia due to STAR deficency","Congenital lobar emphysema","Congenital macroglossia","Congenital megacalycosis","Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization","Congenital microcoria","Congenital muscular dystrophy due to LMNA mutation","Congenital muscular dystrophy with cerebellar involvement","Congenital muscular dystrophy with intellectual disability","Congenital muscular dystrophy with intellectual disability and severe epilepsy","Congenital muscular dystrophy without intellectual disability","Congenital muscular dystrophy, Fukuyama type","Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome","Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome","Congenital myasthenic syndrome","Congenital myopathy with myasthenic-like onset","Congenital nephrotic syndrome, Finnish type","Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome","Congenital pancreatic cyst","Congenital panfollicular nevus","Congenital patella dislocation","Congenital plasminogen activator inhibitor type 1 deficiency","Congenital primary aphakia","Congenital primary megaureter","Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome","Congenital pseudoarthrosis of the clavicle","Congenital pulmonary airway malformation","Congenital pulmonary lymphangiectasia","Congenital pulmonary valvar stenosis","Congenital respiratory-biliary fistula","Congenital rubella syndrome","Congenital short bowel syndrome","Congenital short QT syndrome","Congenital sucrase-isomaltase deficiency","Congenital syphilis","Congenital total pulmonary venous return anomaly","Congenital toxoplasmosis","Congenital tracheal stenosis","Congenital tracheomalacia","Congenital tricuspid stenosis","Congenital tricuspid valve dysplasia","Congenital tufting enteropathy","Congenital unilateral hypoplasia of depressor anguli oris","Congenital varicella syndrome","Congenital velopharyngeal incompetence","Congenital vertical talus","Congenitally corrected transposition of the great arteries","Congenitally uncorrected transposition of the great arteries","Cono-spondylar dysplasia","Constitutional mismatch repair deficiency syndrome","Contractures-developmental delay-Pierre Robin syndrome","Contractures-ectodermal dysplasia-cleft lip/palate syndrome","Cooks syndrome","Cooper-Jabs syndrome","Corneal dystrophy-perceptive deafness syndrome","Cornelia de Lange syndrome","Corneodermatoosseous syndrome","Coronary arterial fistula","Corpus callosum agenesis-abnormal genitalia syndrome","Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome","Corpus callosum agenesis-macrocephaly-hypertelorism syndrome","Corpus callosum agenesis-neuronopathy syndrome","Cortical blindness-intellectual disability-polydactyly syndrome","Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation","Corticobasal syndrome","Costello syndrome","Coxoauricular syndrome","Coxopodopatellar syndrome","Crane-Heise syndrome","Cranio-cervical dystonia with laryngeal and upper-limb involvement","Cranio-osteoarthropathy","Craniodiaphyseal dysplasia","Craniodigital-intellectual disability syndrome","Cranioectodermal dysplasia","Craniofacial conodysplasia","Craniofacial dysostosis-diaphyseal hyperplasia syndrome","Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome","Craniofacial microsomia","Craniofacial-deafness-hand syndrome","Craniofaciofrontodigital syndrome","Craniofrontonasal dysplasia","Craniofrontonasal dysplasia-Poland anomaly syndrome","Craniolenticulosutural dysplasia","Craniometadiaphyseal dysplasia, wormian bone type","Craniometaphyseal dysplasia","Craniopharyngioma","Craniorachischisis","Craniosynostosis, Herrmann-Opitz type","Craniosynostosis, Philadelphia type","Craniosynostosis-anal anomalies-porokeratosis syndrome","Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome","Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome","Craniotelencephalic dysplasia","Crigler-Najjar syndrome","Crimean-Congo hemorrhagic fever","Crisponi syndrome","Criss-cross heart","Cronkhite-Canada syndrome","Crossed polysyndactyly","Crouzon syndrome","Crouzon syndrome-acanthosis nigricans syndrome","Cryoglobulinemic vasculitis","Cryptococcosis","Cryptogenic organizing pneumonia","Cryptomicrotia-brachydactyly-excess fingertip arch syndrome","Cryptorchidism-arachnodactyly-intellectual disability syndrome","CTCF-related neurodevelopmental disorder","Currarino syndrome","Curry-Jones syndrome","Cushing disease","Cushing syndrome due to bilateral macronodular adrenocortical disease","Cushing syndrome due to ectopic ACTH secretion","Cutaneous collagenous vasculopathy","Cutaneous mastocytoma","Cutaneous mastocytosis-deafness-microtia syndrome","Cutaneous neuroendocrine carcinoma","Cutaneous small vessel vasculitis","Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome","Cutis laxa-Marfanoid syndrome","Cutis marmorata telangiectatica congenita","Cyanide-induced parkinsonism-dystonia","Cyclic neutropenia","Cystathioninuria","Cystic echinococcosis","Cystic fibrosis","Cystic fibrosis-gastritis-megaloblastic anemia syndrome","Cystic hamartoma of lung and kidney","Cysticercosis","Cystinosis","Cystinuria","Czeizel-Losonci syndrome","D-2-hydroxyglutaric aciduria","D-glyceric aciduria","Dahlberg-Borer-Newcomer syndrome","Dandy-Walker malformation-postaxial polydactyly syndrome","Danon disease","Darier disease","DDOST-CDG","De Barsy syndrome","Deaf blind hypopigmentation syndrome, Yemenite type","Deafness with labyrinthine aplasia, microtia, and microdontia","Deafness-craniofacial syndrome","Deafness-ear malformation-facial palsy syndrome","Deafness-enamel hypoplasia-nail defects syndrome","Deafness-epiphyseal dysplasia-short stature syndrome","Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome","Deafness-hypogonadism syndrome","Deafness-infertility syndrome","Deafness-intellectual disability syndrome, Martin-Probst type","Deafness-oligodontia syndrome","Deafness-small bowel diverticulosis-neuropathy syndrome","Deafness-vitiligo-achalasia syndrome","Deficiency in anterior pituitary function-variable immunodeficiency syndrome","Deficiency of adenosine deaminase 2","Dehydrated hereditary stomatocytosis","Delayed encephalopathy due to carbon monoxide poisoning","Delayed membranous cranial ossification","Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome","Deletion 5q35 syndrome","Delta-beta-thalassemia","Delta-sarcoglycan-related limb-girdle muscular dystrophy R6","DEND syndrome","Dengue fever","Dent disease","Dental ankylosis","Dentatorubral pallidoluysian atrophy","Dentin dysplasia","Dentinogenesis imperfecta","Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome","Denys-Drash syndrome","Dermatitis herpetiformis","Dermatofibrosarcoma protuberans","Dermatoleukodystrophy","Dermatomyositis","Dermatoosteolysis, Kirghizian type","Dermatosparaxis Ehlers-Danlos syndrome","Dermochondrocorneal dystrophy","Dermoodontodysplasia","Dermotrichic syndrome","Desbuquois syndrome","Desminopathy","Desmoid tumor","Desmoplastic small round cell tumor","Desmosterolosis","Developmental and epileptic encephalopathy with spike-wave activation in sleep","Developmental delay-facial dysmorphism syndrome due to MED13L deficiency","Developmental malformations-deafness-dystonia syndrome","Dextrocardia","Diabetic embryopathy","Diamond-Blackfan anemia","DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome","Diaphanospondylodysostosis","Diaphragmatic defect-limb deficiency-skull defect syndrome","Diastrophic dysplasia","Dicarboxylic aminoaciduria","DICER1 tumor-predisposition syndrome","Diencephalic syndrome","Dietary iron overload disease","Diethylstilbestrol syndrome","Difference of sex development-intellectual disability syndrome","Diffuse alveolar hemorrhage","Diffuse cutaneous mastocytosis","Diffuse palmoplantar keratoderma, Bothnian type","Diffuse palmoplantar keratoderma-acrocyanosis syndrome","Digital extensor muscle aplasia-polyneuropathy","Dihydropyrimidine dehydrogenase deficiency","Dihydropyrimidinuria","Dilated cardiomyopathy with ataxia","Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome","Dimethylglycine dehydrogenase deficiency","Diphallia","Diprosopus","Discoid lupus erythematosus","Dislocation of the hip-dysmorphism syndrome","Dissecting cellulitis of the scalp","Disseminated superficial actinic porokeratosis","Distal 16p11.2 microdeletion syndrome","Distal 17p13.1 microdeletion syndrome","Distal 22q11.2 microdeletion syndrome","Distal 22q11.2 microduplication syndrome","Distal 7q11.23 microdeletion syndrome","Distal 7q11.23 microduplication syndrome","Distal anoctaminopathy","Distal arthrogryposis type 1","Distal deletion 10q syndrome","Distal deletion 12q syndrome","Distal deletion 13q syndrome","Distal deletion 15q syndrome","Distal deletion 17q syndrome","Distal deletion 19p syndrome","Distal deletion 1q syndrome","Distal deletion 3p syndrome","Distal deletion 6p syndrome","Distal deletion 9p syndrome","Distal duplication 14q syndrome","Distal duplication 17q syndrome","Distal duplication 18q syndrome","Distal duplication 5q syndrome","Distal duplication 6p syndrome","Distal hereditary motor neuropathy type 5","Distal limb deficiencies-micrognathia syndrome","Distal monosomy 7q36 syndrome","Distal myopathy with anterior tibial onset","Distal myopathy, Tateyama type","Distal myopathy, Welander type","Distal myotilinopathy","Distal renal tubular acidosis","Distal Xq28 microduplication syndrome","DK1-CDG","DNA2-related mitochondrial DNA deletion syndrome","DNAJB6-related limb-girdle muscular dystrophy D1","Donnai-Barrow syndrome","Donohue syndrome","DOORS syndrome","Dopa-responsive dystonia due to sepiapterin reductase deficiency","Dopamine beta-hydroxylase deficiency","Double outlet left ventricle","Double outlet right ventricle","Double uterus-hemivagina-renal agenesis syndrome","Dowling-Degos disease","Down syndrome","DPAGT1-CDG","DPM1-CDG","DPM3-CDG","Dracunculiasis","Dravet syndrome","Drug reaction with eosinophilia and systemic symptoms","Drug-induced autoimmune hemolytic anemia","Drug-induced localized lipodystrophy","Drug-induced lupus erythematosus","Duane retraction syndrome","Dubin-Johnson syndrome","Dubowitz syndrome","Duchenne muscular dystrophy","Duodenal atresia","Duplication of the pituitary gland","Duplication of urethra","Dural sinus malformation with arteriovenous shunt","Dyggve-Melchior-Clausen disease","DYRK1A-related intellectual disability syndrome","Dysbetalipoproteinemia","Dyschromatosis symmetrica hereditaria","Dyschromatosis universalis hereditaria","Dysequilibrium syndrome","Dysferlin-related limb-girdle muscular dystrophy R2","Dyskeratosis congenita","Dysmorphism-cleft palate-loose skin syndrome","Dysmorphism-pectus carinatum-joint laxity syndrome","Dysmorphism-short stature-deafness-difference of sex development syndrome","Dysosteosclerosis","Dysplasia epiphysealis hemimelica","Dysplasia of head of femur, Meyer type","Dysraphism-cleft lip/palate-limb reduction defects syndrome","Dyssegmental dysplasia, Silverman-Handmaker type","Dysspondyloenchondromatosis","Dystonia 16","Dystonia 28","Dystonia-aphonia syndrome","Dystonia-parkinsonism-hypermanganesemia syndrome","Dystrophic epidermolysis bullosa pruriginosa","Eales disease","Ear-patella-short stature syndrome","Early infantile developmental and epileptic encephalopathy","Early-onset autosomal dominant Alzheimer disease","Early-onset cerebellar ataxia with retained tendon reflexes","Early-onset epilepsy-intellectual disability-brain anomalies syndrome","Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation","Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome","Early-onset generalized limb-onset dystonia","Early-onset parkinsonism-intellectual disability syndrome","Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome","Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome","Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome","Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome","Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome","Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome","Early-onset X-linked optic atrophy","EAST syndrome","Ebola hemorrhagic fever","Ebstein malformation of the tricuspid valve","Ectodermal dysplasia, trichoodontoonychial type","Ectodermal dysplasia-blindness syndrome","Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome","Ectodermal dysplasia-sensorineural deafness syndrome","Ectodermal dysplasia-skin fragility syndrome","Ectopic aldosterone-producing tumor","Ectrodactyly-polydactyly syndrome","Edinburgh malformation syndrome","EEC syndrome","EEM syndrome","Eiken syndrome","Eisenmenger syndrome","Elastoderma","Elastosis perforans serpiginosa","Ellis-Van Creveld syndrome","Emanuel syndrome","Emery-Dreifuss muscular dystrophy","Emery-Nelson syndrome","Enamel-renal syndrome","Encephalitis lethargica","Encephalocraniocutaneous lipomatosis","Encephalopathy due to prosaposin deficiency","Encephalopathy due to sulfite oxidase deficiency","Endocardial fibroelastosis","Endosteal hyperostosis, Worth type","Eng-Strom syndrome","Enlarged parietal foramina","Enteric anendocrinosis","Enthesitis-related juvenile idiopathic arthritis","Eosinophilic fasciitis","Eosinophilic gastroenteritis","Eosinophilic granulomatosis with polyangiitis","Ependymoma","Epidermal nevus syndrome","Epidermolysis bullosa acquisita","Epidermolysis bullosa simplex with anodontia/hypodontia","Epidermolysis bullosa simplex with circinate migratory erythema","Epidermolysis bullosa simplex with mottled pigmentation","Epidermolysis bullosa simplex with muscular dystrophy","Epidermolysis bullosa simplex with pyloric atresia","Epidermolytic palmoplantar keratoderma","Epilepsy of infancy with migrating focal seizures","Epilepsy with auditory features","Epilepsy with eyelid myoclonia","Epilepsy with myoclonic-atonic seizures","Epilepsy-microcephaly-skeletal dysplasia syndrome","Epilepsy-telangiectasia syndrome","Epiphyseal dysplasia-hearing loss-dysmorphism syndrome","Epiphyseal stippling-osteoclastic hyperplasia syndrome","Episodic ataxia type 1","Episodic ataxia type 3","Episodic ataxia type 4","Episodic ataxia type 5","Episodic ataxia type 6","Episodic ataxia type 7","Episodic ataxia with slurred speech","Epithelial recurrent erosion dystrophy","Erdheim-Chester disease","Ermine phenotype","Erosive pustular dermatosis of the scalp","Erythema elevatum diutinum","Erythroderma desquamativum","Erythrokeratoderma ''en cocardes''","Erythrokeratodermia variabilis","Esophageal atresia","Essential fructosuria","Essential thrombocythemia","Estrogen resistance syndrome","Ethylene glycol poisoning","Ethylmalonic encephalopathy","Evans syndrome","Exercise-induced malignant hyperthermia","Exostoses-anetodermia-brachydactyly type E syndrome","Exstrophy-epispadias complex","Extensor tendons of finger anomalies","External auditory canal atresia-vertical talus-hypertelorism syndrome","Extracranial carotid artery aneurysm","Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome","Fabry disease","Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome","Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome","Facial dysmorphism-shawl scrotum-joint laxity syndrome","Facial onset sensory and motor neuronopathy","Faciocardiorenal syndrome","Facioscapulohumeral dystrophy","FADD-related immunodeficiency","Fallot complex-intellectual disability-growth delay syndrome","Familial acute necrotizing encephalopathy","Familial adenomatous polyposis","Familial adult myoclonic epilepsy","Familial Alzheimer-like prion disease","Familial anetoderma","Familial aortic dissection","Familial articular hypermobility syndrome","Familial atrial myxoma","Familial atypical multiple mole melanoma syndrome","Familial avascular necrosis of femoral head","Familial benign copper deficiency","Familial bicuspid aortic valve","Familial calcium pyrophosphate deposition","Familial cerebral cavernous malformation","Familial cerebral saccular aneurysm","Familial chylomicronemia syndrome","Familial cold urticaria","Familial colorectal cancer Type X","Familial congenital mirror movements","Familial cutaneous collagenoma","Familial developmental dysphasia","Familial digital arthropathy-brachydactyly","Familial dilated cardiomyopathy with conduction defect due to LMNA mutation","Familial dysautonomia","Familial dyskinesia and facial myokymia","Familial exudative vitreoretinopathy","Familial focal epilepsy with variable foci","Familial gestational hyperthyroidism","Familial glucocorticoid deficiency","Familial hemophagocytic lymphohistiocytosis","Familial hyperaldosteronism type I","Familial hyperaldosteronism type II","Familial hyperaldosteronism type III","Familial hyperprolactinemia","Familial hyperthyroidism due to mutations in TSH receptor","Familial hypoaldosteronism","Familial hypocalciuric hypercalcemia","Familial idiopathic dilatation of the right atrium","Familial infantile bilateral striatal necrosis","Familial intestinal malrotation","Familial isolated café-au-lait macules","Familial isolated dilated cardiomyopathy","Familial isolated hyperparathyroidism","Familial isolated hypertrophic cardiomyopathy","Familial isolated hypoparathyroidism","Familial isolated restrictive cardiomyopathy","Familial keratoacanthoma","Familial median cleft of the upper and lower lips","Familial Mediterranean fever","Familial melanoma","Familial multinodular goiter","Familial multiple lipomatosis","Familial multiple nevi flammei","Familial nasal acilia","Familial or sporadic hemiplegic migraine","Familial osteodysplasia, Anderson type","Familial pancreatic carcinoma","Familial papillary or follicular thyroid carcinoma","Familial papillary thyroid carcinoma with renal papillary neoplasia","Familial paroxysmal ataxia","Familial partial lipodystrophy, Dunnigan type","Familial partial lipodystrophy, Köbberling type","Familial peripheral male-limited precocious puberty","Familial pseudohyperkalemia","Familial pterygium of the conjunctiva","Familial reactive perforating collagenosis","Familial renal glucosuria","Familial scaphocephaly syndrome, McGillivray type","Familial spontaneous pneumothorax","Familial supernumerary nipples","Familial thoracic aortic aneurysm and aortic dissection","Familial thrombocytosis","Familial thyroid dyshormonogenesis","Familial tumoral calcinosis","Familial visceral myopathy","Fanconi anemia","Fanconi-Bickel syndrome","Farber disease","Fatal familial insomnia","Fatal infantile lactic acidosis with methylmalonic aciduria","FATCO syndrome","Fatty acid hydroxylase-associated neurodegeneration","Fatty acyl-CoA reductase 1 deficiency","FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome","Febrile infection-related epilepsy syndrome","Feingold syndrome","Felty syndrome","Female infertility due to oocyte meiotic arrest","Femoral-facial syndrome","Femur-fibula-ulna complex","Fetal akinesia deformation sequence","Fetal alcohol syndrome","Fetal and neonatal alloimmune thrombocytopenia","Fetal cytomegalovirus syndrome","Fetal hydantoin syndrome","Fetal iodine syndrome","Fetal methylmercury syndrome","Fetal minoxidil syndrome","Fetal parvovirus syndrome","Fetal trimethadione syndrome","Fetal valproate spectrum disorder","FG syndrome type 1","FGFR2-related bent bone dysplasia","Fibrochondrogenesis","Fibrodysplasia ossificans progressiva","Fibronectin glomerulopathy","Fibrous dysplasia of bone","Fibular aplasia-complex brachydactyly syndrome","Fibular aplasia-ectrodactyly syndrome","Fibular dimelia-diplopodia syndrome","Fibulo-ulnar hypoplasia-renal anomalies syndrome","Filippi syndrome","Fixed drug eruption","Fixed subaortic stenosis","FKRP-related limb-girdle muscular dystrophy R9","Flat face-microstomia-ear anomaly syndrome","FLNA-related X-linked myxomatous valvular dysplasia","FLNC-related handgrip and calf weakness-distal myopathy","Floating-Harbor syndrome","Florid cemento-osseous dysplasia","FLOTCH syndrome","Flynn-Aird syndrome","Focal dermal hypoplasia","Focal myositis","Focal palmoplantar and gingival keratoderma","Foix-Chavany-Marie syndrome","Folinic acid-responsive seizures","Follicular lymphoma","Formiminoglutamic aciduria","Fountain syndrome","Foveal hypoplasia-presenile cataract syndrome","Fowler urethral sphincter dysfunction syndrome","FOXG1 syndrome","FOXP1 Syndrome","Fragile X syndrome","Fragile X-associated tremor/ataxia syndrome","Frank-Ter Haar syndrome","Fraser syndrome","Frasier syndrome","FRAXE intellectual disability","FRAXF syndrome","Free sialic acid storage disease","Freeman-Sheldon syndrome","Fried syndrome","Friedreich ataxia","Frontofacionasal dysplasia","Frontometaphyseal dysplasia","Frontonasal dysplasia-alopecia-genital anomalies syndrome","Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome","Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome","Frontorhiny","Frontotemporal dementia with motor neuron disease","Fructose-1,6-bisphosphatase deficiency","Fryns syndrome","Fryns-Smeets-Thiry syndrome","Fuchs endothelial corneal dystrophy","Fuchs heterochromic iridocyclitis","Fucosidosis","Full NF2-related schwannomatosis","Full schwannomatosis","Fumaric aciduria","Functioning gonadotropic adenoma","Fusariosis","Fused mandibular incisors","Gabriele-de Vries syndrome","Galactokinase deficiency","Galactose epimerase deficiency","Galactose mutarotase deficiency","Galactosialidosis","Gallbladder neuroendocrine tumor","Galloway-Mowat syndrome","Gamma-aminobutyric acid transaminase deficiency","Gamma-glutamyl transpeptidase deficiency","Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5","Gangliocytoma","Ganglioneuroma","GAPO syndrome","Gastrocutaneous syndrome","Gastrointestinal stromal tumor","Gastroschisis","GATA2 deficiency spectrum","Gaucher disease","GCGR-related hyperglucagonemia","Gelatinous drop-like corneal dystrophy","Geleophysic dysplasia","Gemignani syndrome","Generalized arterial calcification of infancy","Generalized epilepsy-paroxysmal dyskinesia syndrome","Generalized eruptive histiocytosis","Generalized eruptive keratoacanthoma","Generalized glucocorticoid resistance syndrome","Generalized pustular psoriasis","Genetic epilepsy with febrile seizure plus","Genetic hyperferritinemia without iron overload","Genetic recurrent myoglobinuria","Genetic transient congenital hypothyroidism","Genitopalatocardiac syndrome","Genitopatellar syndrome","Genochondromatosis type 1","German syndrome","Geroderma osteodysplastica","Gerstmann-Straussler-Scheinker syndrome","Gestational choriocarcinoma","Ghosal hematodiaphyseal dysplasia","Giant axonal neuropathy","Giant cell arteritis","Gingival fibromatosis-facial dysmorphism syndrome","Gingival fibromatosis-hypertrichosis syndrome","Gingival fibromatosis-progressive deafness syndrome","Gitelman syndrome","GJC2-related late-onset primary lymphedema","Glanzmann thrombasthenia","Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome","Glaucoma-sleep apnea syndrome","Glioblastoma","Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome","Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome","Global developmental delay-osteopenia-ectodermal defect syndrome","Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome","Glomuvenous malformation","Glossopharyngeal neuralgia","Glucagonoma","Glucose-galactose malabsorption","Glutamate-cysteine ligase deficiency","Glutaric acidemia type 3","Glutaryl-CoA dehydrogenase deficiency","Glutathione synthetase deficiency","Glycine encephalopathy","Glycogen storage disease due to acid maltase deficiency","Glycogen storage disease due to aldolase A deficiency","Glycogen storage disease due to glucose-6-phosphatase deficiency","Glycogen storage disease due to glycogen branching enzyme deficiency","Glycogen storage disease due to glycogen debranching enzyme deficiency","Glycogen storage disease due to hepatic glycogen synthase deficiency","Glycogen storage disease due to lactate dehydrogenase deficiency","Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency","Glycogen storage disease due to liver glycogen phosphorylase deficiency","Glycogen storage disease due to liver phosphorylase kinase deficiency","Glycogen storage disease due to muscle and heart glycogen synthase deficiency","Glycogen storage disease due to muscle beta-enolase deficiency","Glycogen storage disease due to muscle glycogen phosphorylase deficiency","Glycogen storage disease due to muscle phosphofructokinase deficiency","Glycogen storage disease due to muscle phosphorylase kinase deficiency","Glycogen storage disease due to phosphoglycerate kinase 1 deficiency","Glycogen storage disease due to phosphoglycerate mutase deficiency","Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency","GM1 gangliosidosis","GM2 gangliosidosis, AB variant","GMPPB-related limb-girdle muscular dystrophy R19","GMS syndrome","Gnathodiaphyseal dysplasia","GNB5-related intellectual disability-cardiac arrhythmia syndrome","GNE myopathy","Goldberg-Shprintzen megacolon syndrome","Gollop-Wolfgang complex","Gonadoblastoma","Gordon syndrome","Gorham-Stout disease","Gorlin syndrome","GRACILE syndrome","Graft versus host disease","Graham Little-Piccardi-Lassueur syndrome","Grange syndrome","Grant syndrome","Granular corneal dystrophy type I","Granular corneal dystrophy type II","Granulomatosis with polyangiitis","Granulomatous slack skin","Gray platelet syndrome","Greenberg dysplasia","Greig cephalopolysyndactyly syndrome","GRFoma","GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder","Griscelli syndrome","Growth delay due to insulin-like growth factor I resistance","Growth delay due to insulin-like growth factor type 1 deficiency","Growth delay-hydrocephaly-lung hypoplasia syndrome","Growth delay-intellectual disability-hepatopathy syndrome","Grubben-de Cock-Borghgraef syndrome","Guanidinoacetate methyltransferase deficiency","Gyrate atrophy of choroid and retina","Gómez-López-Hernández syndrome","H syndrome","Haddad syndrome","Hailey-Hailey disease","Haim-Munk syndrome","Hajdu-Cheney syndrome","Hall-Riggs syndrome","Hallermann-Streiff syndrome","Hallux varus-preaxial polysyndactyly syndrome","HANAC syndrome","Hand-foot-genital syndrome","Hardikar syndrome","Harlequin ichthyosis","Harlequin syndrome","Harrod syndrome","Hartnup disease","Hartsfield syndrome","Hawkinsinuria","Hearing loss-familial salivary gland insensitivity to aldosterone syndrome","Heart defect-tongue hamartoma-polysyndactyly syndrome","Heart defects-limb shortening syndrome","Heart-hand syndrome type 2","Heart-hand syndrome, Slovenian type","HEC syndrome","HELLP syndrome","Helsmoortel-Van der Aa syndrome","Hemangioblastoma","Heme oxygenase-1 deficiency","Hemidystonia-hemiatrophy syndrome","Hemifacial hyperplasia","Hemihyperplasia-multiple lipomatosis syndrome","Hemimegalencephaly","Hemiparkinsonism-hemiatrophy syndrome","Hemoglobin Bart's fetalis syndrome","Hemoglobin C-beta-thalassemia syndrome","Hemoglobin D disease","Hemoglobin E disease","Hemoglobin E-beta-thalassemia syndrome","Hemolytic anemia due to glucophosphate isomerase deficiency","Hemolytic anemia due to red cell pyruvate kinase deficiency","Hemophilia A","Hemophilia B","Hemorrhagic fever-renal syndrome","Hennekam syndrome","Hepatic fibrosis-renal cysts-intellectual disability syndrome","Hepatic veno-occlusive disease","Hepatic veno-occlusive disease-immunodeficiency syndrome","Hepatitis delta","Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1","Hepatoerythropoietic porphyria","Hereditary acrokeratotic poikiloderma","Hereditary amyloidosis with primary renal involvement","Hereditary angioedema with C1Inh deficiency","Hereditary angioedema with normal C1Inh","Hereditary arterial and articular multiple calcification syndrome","Hereditary atrial fibrillation","Hereditary ATTR amyloidosis","Hereditary breast and/or ovarian cancer syndrome","Hereditary bullous dystrophy, macular type","Hereditary butyrylcholinesterase deficiency","Hereditary cerebral amyloid angiopathy","Hereditary combined deficiency of vitamin K-dependent clotting factors","Hereditary continuous muscle fiber activity","Hereditary coproporphyria","Hereditary cryohydrocytosis with reduced stomatin","Hereditary diffuse gastric cancer","Hereditary elliptocytosis","Hereditary folate malabsorption","Hereditary fructose intolerance","Hereditary geniospasm","Hereditary gingival fibromatosis","Hereditary hemorrhagic telangiectasia","Hereditary hyperekplexia","Hereditary hyperferritinemia-cataract syndrome","Hereditary hypophosphatemic rickets with hypercalciuria","Hereditary late-onset Parkinson disease","Hereditary leiomyomatosis and renal cell cancer","Hereditary mixed polyposis syndrome","Hereditary motor and sensory neuropathy, Okinawa type","Hereditary mucoepithelial dysplasia","Hereditary myopathy with early respiratory failure","Hereditary neurocutaneous malformation","Hereditary neuropathy with liability to pressure palsies","Hereditary orotic aciduria","Hereditary painful callosities","Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome","Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome","Hereditary pheochromocytoma-paraganglioma","Hereditary progressive cardiac conduction defect","Hereditary progressive mucinous histiocytosis","Hereditary pulmonary alveolar proteinosis","Hereditary renal hypouricemia","Hereditary sensory and autonomic neuropathy due to TECPR2 mutation","Hereditary sensory and autonomic neuropathy type 1","Hereditary sensory and autonomic neuropathy type 2","Hereditary sensory and autonomic neuropathy type 4","Hereditary sensory and autonomic neuropathy type 5","Hereditary spherocytosis","Hereditary steroid-resistant nephrotic syndrome","Hereditary thrombophilia due to congenital antithrombin deficiency","Hereditary xanthinuria","Hermansky-Pudlak syndrome","Hernández-Aguirre Negrete syndrome","Herpes simplex virus encephalitis","Herpes simplex virus stromal keratitis","HIDEA syndrome","Hidrotic ectodermal dysplasia","Hidrotic ectodermal dysplasia, Christianson-Fourie type","Hidrotic ectodermal dysplasia, Halal type","Hinman syndrome","Hip dysplasia, Beukes type","Hirschsprung disease","Hirschsprung disease-deafness-polydactyly syndrome","Hirschsprung disease-ganglioneuroblastoma syndrome","Hirschsprung disease-type D brachydactyly syndrome","His bundle tachycardia","Histidinemia","Histidinuria-renal tubular defect syndrome","Histiocytoid cardiomyopathy","HJV or HAMP-related hemochromatosis","HNRNPA1-related adult-onset distal myopathy","Holmes-Adie syndrome","Holocarboxylase synthetase deficiency","Holoprosencephaly","Holoprosencephaly-caudal dysgenesis syndrome","Holoprosencephaly-craniosynostosis syndrome","Holoprosencephaly-postaxial polydactyly syndrome","Holoprosencephaly-radial heart renal anomalies syndrome","Holt-Oram syndrome","Holzgreve syndrome","Homocystinuria due to cystathionine beta-synthase deficiency","Homocystinuria due to methylene tetrahydrofolate reductase deficiency","Homocystinuria without methylmalonic aciduria","Homozygous familial hypercholesterolemia","Horizontal gaze palsy with progressive scoliosis","Hoyeraal-Hreidarsson syndrome","HSD10 disease","Hughes-Stovin syndrome","Huntington disease","Huntington disease-like 1","Huntington disease-like 2","Huntington disease-like 3","Huntington disease-like syndrome due to C9ORF72 expansions","Huriez syndrome","Hutchinson-Gilford progeria syndrome","Hyaluronidase deficiency","Hydatidiform mole","Hydranencephaly","Hydroa vacciniforme","Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome","Hydrocephalus-obesity-hypogonadism syndrome","Hydrocephaly-cerebellar agenesis syndrome","Hydrocephaly-low insertion umbilicus syndrome","Hydrocephaly-tall stature-joint laxity syndrome","Hydrolethalus","Hydrops fetalis","Hydroxykynureninuria","Hyperammonemia due to N-acetylglutamate synthase deficiency","Hyperandrogenism due to cortisone reductase deficiency","Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency","Hyperekplexia-epilepsy syndrome","Hypergonadotropic hypogonadism-cataract syndrome","Hyperinsulinism due to HNF1A deficiency","Hyperinsulinism due to INSR deficiency","Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency","Hyperinsulinism due to UCP2 deficiency","Hyperinsulinism-hyperammonemia syndrome","Hyperkalemic periodic paralysis","Hyperkeratosis lenticularis perstans","Hyperkeratosis-hyperpigmentation syndrome","Hyperlipidemia due to hepatic triacylglycerol lipase deficiency","Hyperlysinemia","Hypermobile Ehlers-Danlos syndrome","Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome","Hyperostosis corticalis generalisata","Hyperparathyroidism-jaw tumor syndrome","Hyperphenylalaninemia due to tetrahydrobiopterin deficiency","Hyperphosphatasia-intellectual disability syndrome","Hyperprolinemia type 1","Hyperprolinemia type 2","Hypertelorism-hypospadias-polysyndactyly syndrome","Hypertelorism-microtia-facial clefting syndrome","Hypertrichosis cubiti","Hypertrichosis lanuginosa congenita","Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation","Hypertryptophanemia","Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome","Hypocalcemic vitamin D-dependent rickets","Hypocalcemic vitamin D-resistant rickets","Hypochondroplasia","Hypocomplementemic urticarial vasculitis","Hypodontia-dysplasia of nails syndrome","Hypoglossia-hypodactyly syndrome","Hypogonadism-mitral valve prolapse-intellectual disability syndrome","Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome","Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome","Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome","Hypohidrotic ectodermal dysplasia","Hypohidrotic ectodermal dysplasia with immunodeficiency","Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome","Hypoinsulinemic hypoglycemia and body hemihypertrophy","Hypokalemic periodic paralysis","Hypomandibular faciocranial dysostosis","Hypomyelination neuropathy-arthrogryposis syndrome","Hypomyelination-congenital cataract syndrome","Hypoparathyroidism-sensorineural deafness-renal disease syndrome","Hypophosphatasia","Hypoplasminogenemia","Hypoplastic left heart syndrome","Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome","Hypospadias-intellectual disability, Goldblatt type syndrome","Hypothyroidism due to deficient transcription factors involved in pituitary development or function","Hypothyroidism due to TSH receptor mutations","Hypotonia-cystinuria syndrome","Hypotonia-speech impairment-severe cognitive delay syndrome","Hypotrichosis simplex","Hypotrichosis simplex of the scalp","Hypotrichosis with juvenile macular degeneration","Hypotrichosis-intellectual disability, Lopes type","Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome","Hypoxanthine guanine phosphoribosyltransferase partial deficiency","ICF syndrome","Ichthyosis follicularis-alopecia-photophobia syndrome","Ichthyosis hystrix of Curth-Macklin","Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome","Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome","Ichthyosis-hypotrichosis syndrome","Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome","Ichthyosis-prematurity syndrome","Idiopathic achalasia","Idiopathic acute eosinophilic pneumonia","Idiopathic aplastic anemia","Idiopathic bilateral vestibulopathy","Idiopathic bronchiectasis","Idiopathic camptocormia","Idiopathic catatonia","Idiopathic chronic eosinophilic pneumonia","Idiopathic congenital hypothyroidism","Idiopathic copper-associated cirrhosis","Idiopathic giant cell myocarditis","Idiopathic hypercalciuria","Idiopathic hypereosinophilic syndrome","Idiopathic hypersomnia","Idiopathic intracranial hypertension","Idiopathic isolated micropenis","Idiopathic juvenile osteoporosis","Idiopathic localized lipodystrophy","Idiopathic neonatal atrial flutter","Idiopathic non-lupus full-house nephropathy","Idiopathic panuveitis","Idiopathic pulmonary fibrosis","Idiopathic pulmonary hemosiderosis","Idiopathic small fibers neuropathy","Idiopathic steroid-resistant nephrotic syndrome","Idiopathic steroid-sensitive nephrotic syndrome","Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance","Idiopathic trachyonychia","Idiopathic uveal effusion syndrome","Idiopathic/heritable pulmonary arterial hypertension","IgA pemphigus","IgG4-related systemic disease","Ileal neuroendocrine tumor","IMAGe syndrome","Imerslund-Gräsbeck syndrome","Iminoglycinuria","Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome","Immune thrombocytopenia","Immune-mediated necrotizing myopathy","Immunodeficiency by defective expression of MHC class II","Immunodeficiency due to selective anti-polysaccharide antibody deficiency","Immunoglobulin A nephropathy","Immunoglobulin A vasculitis","Imperforate oropharynx-costovertebral anomalies syndrome","Incessant infant ventricular tachycardia","Inclusion body myopathy with Paget disease of bone and frontotemporal dementia","Inclusion body myositis","Incontinentia pigmenti","Indolent systemic mastocytosis","Indomethacin embryofetopathy","Infantile choroidocerebral calcification syndrome","Infantile digital fibromatosis","Infantile dystonia-parkinsonism","Infantile epileptic spasms syndrome","Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome","Infantile LAD-like disease due to RAC2 deficiency","Infantile multisystem neurologic-endocrine-pancreatic disease","Infantile myofibromatosis","Infantile neurovisceral acid sphingomyelinase deficiency","Infantile osteopetrosis with neuroaxonal dysplasia","Infantile Refsum disease","Infantile spasms-broad thumbs syndrome","Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome","Infantile-onset ascending hereditary spastic paralysis","Infantile-onset autosomal recessive nonprogressive cerebellar ataxia","Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome","Infantile-onset generalized dyskinesia with orofacial involvement","Infantile-onset spinocerebellar ataxia","Infantile-onset X-linked spinal muscular atrophy","Infection-related hemolytic uremic syndrome","Inflammatory pseudotumor of the liver","Inhalational anthrax","Inherited Creutzfeldt-Jakob disease","Inherited epidermodysplasia verruciformis","Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency","Inherited isolated arrhythmogenic cardiomyopathy","Iniencephaly","Insulin autoimmune syndrome","Insulin-resistance syndrome type A","Insulin-resistance syndrome type B","Insulinoma","Intellectual disability, Buenos-Aires type","Intellectual disability, Wolff type","Intellectual disability-alacrima-achalasia syndrome","Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome","Intellectual disability-balding-patella luxation-acromicria syndrome","Intellectual disability-brachydactyly-Pierre Robin syndrome","Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome","Intellectual disability-cataracts-calcified pinnae-myopathy syndrome","Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome","Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome","Intellectual disability-epilepsy-extrapyramidal syndrome","Intellectual disability-expressive aphasia-facial dysmorphism syndrome","Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome","Intellectual disability-facial dysmorphism-hand anomalies syndrome","Intellectual disability-hyperkinetic movement-truncal ataxia syndrome","Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome","Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome","Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome","Intellectual disability-myopathy-short stature-endocrine defect syndrome","Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome","Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome","Intellectual disability-polydactyly-uncombable hair syndrome","Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome","Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome","Intellectual disability-seizures-macrocephaly-obesity syndrome","Intellectual disability-short stature-hypertelorism syndrome","Intellectual disability-spasticity-ectrodactyly syndrome","Intellectual disability-strabismus syndrome","Interatrial communication","Intermediate generalized junctional epidermolysis bullosa","Intermediate nemaline myopathy","Intermediate osteopetrosis","Intermediate uveitis","Intermittent hydrarthrosis","Internal carotid absence","Interstitial cystitis","Interstitial granulomatous dermatitis with arthritis","Intrahepatic cholestasis of pregnancy","Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome","Invasive meningococcal disease","Invasive mole","Inverted duplicated chromosome 15 syndrome","IRIDA syndrome","Iridocorneal endothelial syndrome","IRVAN syndrome","Isaacs syndrome","Isobutyryl-CoA dehydrogenase deficiency","Isochromosomy Yp syndrome","Isochromosomy Yq syndrome","Isolated absence of upper arm and forearm with hand present","Isolated absence/hypoplasia of fingers excluding thumb, unilateral","Isolated acheiropodia","Isolated anencephaly/exencephaly","Isolated aniridia","Isolated arrhinia","Isolated asymptomatic elevation of creatine phosphokinase","Isolated ATP synthase deficiency","Isolated atrial standstill","Isolated biliary atresia","Isolated cerebellar agenesis","Isolated childhood apraxia of speech","Isolated cleft lip","Isolated complex I deficiency","Isolated congenital alacrima","Isolated congenital hypoglossia/aglossia","Isolated congenital laryngeal web","Isolated congenital long QT syndrome","Isolated congenital onychodysplasia","Isolated corpus callosum agenesis","Isolated Dandy-Walker malformation","Isolated distal symphalangism","Isolated ectopia lentis","Isolated familial medullary thyroid carcinoma","Isolated fibular hemimelia","Isolated focal cortical dysplasia","Isolated follicle stimulating hormone deficiency","Isolated glycerol kinase deficiency","Isolated hemihyperplasia","Isolated humero-radial synostosis","Isolated humero-radio-ulnar synostosis","Isolated Klippel-Feil syndrome","Isolated lissencephaly type 1 without known genetic defects","Isolated megalencephaly","Isolated mesenteric vein thrombosis","Isolated multiple intestinal atresia","Isolated nail clubbing","Isolated optic neuritis","Isolated osteopoikilosis","Isolated permanent neonatal diabetes mellitus","Isolated Pierre Robin sequence","Isolated polycystic liver disease","Isolated posterior meningocele","Isolated proximal femoral focal deficiency","Isolated radial hemimelia","Isolated radio-ulnar synostosis","Isolated rhombencephalosynapsis","Isolated right ventricular hypoplasia","Isolated sedoheptulokinase deficiency","Isolated splenogonadal fusion","Isolated split hand-split foot malformation","Isolated succinate-CoQ reductase deficiency","Isolated thyroid-stimulating hormone deficiency","Isolated tibial hemimelia","Isolated tracheoesophageal fistula","Isolated ulnar hemimelia","Isotretinoin syndrome","Isotretinoin-like syndrome","Isovaleric acidemia","ISPD-related limb-girdle muscular dystrophy R20","ITM2B amyloidosis","IVIC syndrome","Jackson-Weiss syndrome","Jacobsen syndrome","Jalili syndrome","Japanese encephalitis","Jervell and Lange-Nielsen syndrome","Jessner lymphocytic infiltration of the skin","Jeune syndrome","Johanson-Blizzard syndrome","Johnson neuroectodermal syndrome","Juberg-Hayward syndrome","Junctional epidermolysis bullosa inversa","Junctional epidermolysis bullosa with pyloric atresia","Jung syndrome","Juvenile absence epilepsy","Juvenile amyotrophic lateral sclerosis","Juvenile dermatomyositis","Juvenile glaucoma","Juvenile Huntington disease","Juvenile myoclonic epilepsy","Juvenile nasopharyngeal angiofibroma","Juvenile Paget disease","Juvenile polyposis syndrome","Juvenile primary lateral sclerosis","Juvenile temporal arteritis","Juvenile xanthogranuloma","Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome","Kabuki syndrome","Kagami-Ogata syndrome","Kallmann syndrome-heart disease syndrome","Kaposi sarcoma","Kaposiform hemangioendothelioma","Kaposiform lymphangiomatosis","Kapur-Toriello syndrome","KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome","Kawasaki disease","KBG syndrome","KCNQ2-related developmental and epileptic encephalopathy","KDM5C-related syndromic X-linked intellectual disability","Kearns-Sayre syndrome","Keipert syndrome","Kennedy disease","Keppen-Lubinsky syndrome","Keratoderma hereditarium mutilans","Keratoderma hereditarium mutilans with ichthyosis","Keratolytic winter erythema","Keratosis follicularis spinulosa decalvans","Keratosis follicularis-dwarfism-cerebral atrophy syndrome","Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome","Keratosis palmaris et plantaris-clinodactyly syndrome","Kerion celsi","Ketamine-induced biliary dilatation","Keutel syndrome","KID syndrome","Kidney tubulopathy-dilated cardiomyopathy syndrome","Kienbock disease","Kikuchi-Fujimoto disease","Kimura disease","Kindler epidermolysis bullosa","Kjellin syndrome","Kleefstra syndrome","Kleine-Levin syndrome","KLHL9-related early-onset distal myopathy","Kniest dysplasia","Knobloch syndrome","Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome","Koolen-De Vries syndrome","Krabbe disease","KRT1-related diffuse nonepidermolytic keratoderma","Kufor-Rakeb syndrome","Kuskokwim syndrome","Kyphomelic dysplasia","Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome","Kyphoscoliotic Ehlers-Danlos syndrome","L-2-hydroxyglutaric aciduria","L-Arginine:glycine amidinotransferase deficiency","L1 syndrome","Lacrimoauriculodentodigital syndrome","Lafora disease","Laing distal myopathy","Lamb-Shaffer syndrome","Lambert syndrome","Lambert-Eaton myasthenic syndrome","Lamellar ichthyosis","Laminin subunit alpha 2-related congenital muscular dystrophy","Landau-Kleffner syndrome","Langer mesomelic dysplasia","Langerhans cell histiocytosis","Large/giant congenital melanocytic nevus","Laron syndrome","Laron syndrome with immunodeficiency","Larsen syndrome","Larsen-like osseous dysplasia-short stature syndrome","Laryngeal abductor paralysis","Laryngeal abductor paralysis-intellectual disability syndrome","Laryngeal neuroendocrine tumor","Laryngo-onycho-cutaneous syndrome","Laryngotracheoesophageal cleft","Larynx atresia","Lassa fever","Late-onset distal myopathy, Markesbery-Griggs type","Late-onset isolated ACTH deficiency","Late-onset junctional epidermolysis bullosa","Late-onset retinal degeneration","Lateral meningocele syndrome","Lathosterolosis","Lattice corneal dystrophy type I","Laubry-Pezzi syndrome","Laurence-Moon syndrome","Laurin-Sandrow syndrome","LCAT deficiency","Lead poisoning","Leber congenital amaurosis","Leber hereditary optic neuropathy","Ledderhose disease","Legg-Calvé-Perthes disease","Legionnaires disease","Legius syndrome","Leigh syndrome","Leishmaniasis","Lelis syndrome","Lennox-Gastaut syndrome","Lenz-Majewski hyperostotic dysplasia","Leprosy","Leptospirosis","Leri pleonosteosis","Lesch-Nyhan syndrome","Lethal acantholytic erosive disorder","Lethal ataxia with deafness and optic atrophy","Lethal congenital contracture syndrome type 1","Lethal faciocardiomelic dysplasia","Lethal hemolytic anemia-genital anomalies syndrome","Lethal infantile mitochondrial myopathy","Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome","Lethal Kniest-like dysplasia","Lethal omphalocele-cleft palate syndrome","Lethal recessive chondrodysplasia","Leukocyte adhesion deficiency","Leukoencephalopathy with bilateral anterior temporal lobe cysts","Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome","Leukoencephalopathy with calcifications and cysts","Leukoencephalopathy-palmoplantar keratoderma syndrome","Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome","Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome","Leukonychia totalis","Leydig cell hypoplasia","Li-Fraumeni syndrome","Lichen amyloidosis","Lichen planopilaris","Lichen planus pemphigoides","Liddle syndrome","LIG4 syndrome","Limb body wall complex","Limb-mammary syndrome","Limbal stem cell deficiency","Linear atrophoderma of Moulin","Linear IgA dermatosis","Linear nevus sebaceus syndrome","Linear verrucous nevus syndrome","LIPE-related familial partial lipodystrophy","Lipodystrophy due to peptidic growth factors deficiency","Lipodystrophy-intellectual disability-deafness syndrome","Lipoid proteinosis","Liposarcoma","Lissencephaly due to LIS1 mutation","Lissencephaly due to TUBA1A mutation","Lissencephaly type 1 due to doublecortin gene mutation","Lissencephaly type 3-metacarpal bone dysplasia syndrome","Listeriosis","Livedoid vasculopathy","LMNA-related cardiocutaneous progeria syndrome","Localized epidermolysis bullosa simplex","Localized junctional epidermolysis bullosa","Localized scleroderma","Locked-in syndrome","Loeffler endocarditis","Loeys-Dietz syndrome","Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency","Loose anagen syndrome","Low phospholipid-associated cholelithiasis","Lowe-Kohn-Cohen syndrome","Lower limb malformation-hypospadias syndrome","Lower motor neuron syndrome with late-adult onset","Lowry-MacLean syndrome","Lowry-Wood syndrome","Lujan-Fryns syndrome","Lujo hemorrhagic fever","LUMBAR syndrome","Lung agenesis-heart defect-thumb anomalies syndrome","Lupus erythematosus tumidus","Luscan-Lumish syndrome","Lyme disease","Lymphangioleiomyomatosis","Lymphatic filariasis","Lymphedema with yellow nails","Lymphedema-distichiasis syndrome","Lymphoid interstitial pneumonia","Lynch syndrome","Lysinuric protein intolerance","Lysosomal acid lipase deficiency","Léri-Weill dyschondrosteosis","Macrocephaly-developmental delay syndrome","Macrocephaly-intellectual disability-autism syndrome","Macrocephaly-intellectual disability-left ventricular non compaction syndrome","Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome","Macrocephaly-spastic paraplegia-dysmorphism syndrome","Macrodactyly of fingers","Macrodactyly of toes","Macrophage activation syndrome","Macrophagic myofasciitis","Macrosomia-microphthalmia-cleft palate syndrome","Macrostomia-preauricular tags-external ophthalmoplegia syndrome","Macular corneal dystrophy","Maculopapular cutaneous mastocytosis","Madras motor neuron disease","Maffucci syndrome","MAGIC syndrome","Majeed syndrome","Mal de débarquement","Mal de Meleda","Malakoplakia","Malan overgrowth syndrome","Malaria","Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome","Male infertility with azoospermia or oligozoospermia due to single gene mutation","Male infertility with teratozoospermia due to single gene mutation","Malignant hyperthermia of anesthesia","Malignant peritoneal mesothelioma","Malonic aciduria","MALT lymphoma","MAN1B1-CDG","Mandibuloacral dysplasia","Mandibulofacial dysostosis-microcephaly syndrome","Manganese poisoning","Mantle cell lymphoma","Maple syrup urine disease","Marburg hemorrhagic fever","Marchiafava-Bignami disease","Marcus-Gunn syndrome","Marden-Walker syndrome","Marfan syndrome","Marfanoid habitus-autosomal recessive intellectual disability syndrome","Marie Unna hereditary hypotrichosis","Marinesco-Sjögren syndrome","Marshall syndrome","Marshall-Smith syndrome","Mast cell sarcoma","Maternal hyperthermia-induced birth defects","Maternal phenylketonuria syndrome","Maternal uniparental disomy of chromosome 1 syndrome","Maternal uniparental disomy of chromosome 2 syndrome","Maternal uniparental disomy of chromosome 20 syndrome","Maternal uniparental disomy of chromosome 4 syndrome","Maternal uniparental disomy of chromosome 6 syndrome","Maternal uniparental disomy of chromosome 9 syndrome","Maternal uniparental disomy of chromosome X syndrome","Matthew-Wood syndrome","Maxillonasal dysplasia","Mayer-Rokitansky-Küster-Hauser syndrome","Mazabraud syndrome","McCune-Albright syndrome","McDonough syndrome","McKusick-Kaufman syndrome","Meacham syndrome","Meckel syndrome","Meconium aspiration syndrome","MECP2-related severe neonatal encephalopathy","Medial condensing osteitis of the clavicle","Medium chain acyl-CoA dehydrogenase deficiency","MEDNIK syndrome","Medullary sponge kidney","Medullary thyroid carcinoma","Medulloblastoma","Megacystis-microcolon-intestinal hypoperistalsis syndrome","Megalencephalic leukoencephalopathy with subcortical cysts","Megalencephaly-capillary malformation-polymicrogyria syndrome","Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome","Megalencephaly-severe kyphoscoliosis-overgrowth syndrome","Megalocornea-intellectual disability syndrome","MEGDEL syndrome","MEHMO syndrome","Meige disease","MELAS","Melioidosis","Melkersson-Rosenthal syndrome","Melnick-Needles syndrome","Melorheostosis","Melorheostosis with osteopoikilosis","MEND syndrome","Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency","Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency","Meningioma","Menke-Hennekam syndrome","Menkes disease","MEPAN syndrome","Mercury poisoning","MERRF","Mesoaxial synostotic syndactyly with phalangeal reduction","Mesomelia-synostoses syndrome","Mesomelic dwarfism, Reinhardt-Pfeiffer type","Mesomelic dwarfism-cleft palate-camptodactyly syndrome","Mesomelic dysplasia, Kantaputra type","Mesomelic dysplasia, Nievergelt type","Mesomelic dysplasia, Savarirayan type","Metachondromatosis","Metachromatic leukodystrophy","Metaphyseal anadysplasia","Metaphyseal chondrodysplasia, Jansen type","Metaphyseal chondrodysplasia, Rosenberg type","Metaphyseal chondrodysplasia, Schmid type","Metaphyseal chondrodysplasia, Spahr type","Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria","Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome","Metaphyseal dysplasia, Braun-Tinschert type","Metatropic dysplasia","Methanol poisoning","Methimazole embryofetopathy","Methotrexate toxicity","Methylmalonic acidemia with homocystinuria","MGAT2-CDG","Micro syndrome","Microbrachycephaly-ptosis-cleft lip syndrome","Microcephalic cortical malformations-short stature due to RTTN deficiency","Microcephalic osteodysplastic dysplasia, Saul-Wilson type","Microcephalic osteodysplastic primordial dwarfism type II","Microcephalic osteodysplastic primordial dwarfism types I and III","Microcephalic primordial dwarfism due to ZNF335 deficiency","Microcephalic primordial dwarfism, Dauber type","Microcephalic primordial dwarfism, Montreal type","Microcephalic primordial dwarfism, Toriello type","Microcephalic primordial dwarfism-insulin resistance syndrome","Microcephaly-albinism-digital anomalies syndrome","Microcephaly-brachydactyly-kyphoscoliosis syndrome","Microcephaly-brain defect-spasticity-hypernatremia syndrome","Microcephaly-cardiac defect-lung malsegmentation syndrome","Microcephaly-cardiomyopathy syndrome","Microcephaly-cervical spine fusion anomalies syndrome","Microcephaly-chorioretinopathy-lymphedema syndrome","Microcephaly-cleft palate-abnormal retinal pigmentation syndrome","Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrome","Microcephaly-deafness-intellectual disability syndrome","Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome","Microcephaly-glomerulonephritis-marfanoid habitus syndrome","Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome","Microcephaly-microcornea syndrome, Seemanova type","Microcephaly-polymicrogyria-corpus callosum agenesis syndrome","Microcephaly-seizures-intellectual disability-heart disease syndrome","Microcephaly-thin corpus callosum-intellectual disability syndrome","Microcornea-glaucoma-absent frontal sinuses syndrome","Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome","Microduplication Xp11.22p11.23 syndrome","Microform holoprosencephaly","Microgastria-limb reduction defect syndrome","Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome","Microlissencephaly","Microlissencephaly-micromelia syndrome","Microphthalmia with brain and digit anomalies","Microphthalmia with limb anomalies","Microphthalmia with linear skin defects syndrome","Microphthalmia, Lenz type","Microphthalmia-ankyloblepharon-intellectual disability syndrome","Microphthalmia-brain atrophy syndrome","Microphthalmia-microtia-fetal akinesia syndrome","Microscopic polyangiitis","Microsporidiosis","Microtia","Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome","Microtriplication 11q24.1 syndrome","Microvillus inclusion disease","Middle ear neuroendocrine tumor","Mietens syndrome","Miller Fisher syndrome","Miller-Dieker syndrome","Milroy disease","Mirizzi syndrome","Mirror polydactyly-vertebral segmentation-limbs defects syndrome","Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria","Mitochondrial DNA-associated Leigh syndrome","Mitochondrial DNA-related cardiomyopathy and hearing loss","Mitochondrial DNA-related progressive external ophthalmoplegia","Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency","Mitochondrial membrane protein-associated neurodegeneration","Mitochondrial myopathy and sideroblastic anemia","Mitochondrial myopathy with reversible cytochrome C oxidase deficiency","Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome","Mitochondrial myopathy-lactic acidosis-deafness syndrome","Mitochondrial neurogastrointestinal encephalomyopathy","Mitochondrial trifunctional protein deficiency","Mixed connective tissue disease","Mixed-type autoimmune hemolytic anemia","Miyoshi myopathy","MMEP syndrome","MODY","Moebius syndrome","Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome","MOGS-CDG","Mohr-Tranebjaerg syndrome","MOMO syndrome","Monilethrix","Monoamine oxidase A deficiency","Monomelic amyotrophy","Monosomy 13q14 syndrome","Monosomy 13q34 syndrome","Monosomy 18p syndrome","Monosomy 18q syndrome","Monosomy 22 syndrome","Monosomy 5p syndrome","Monosomy 9p syndrome","Monosomy 9q22.3 syndrome","Morgagni-Stewart-Morel syndrome","MORM syndrome","Morning glory disc anomaly","Morvan syndrome","Mosaic trisomy 1 syndrome","Mosaic trisomy 12 syndrome","Mosaic trisomy 14 syndrome","Mosaic trisomy 15 syndrome","Mosaic trisomy 16 syndrome","Mosaic trisomy 17 syndrome","Mosaic trisomy 2 syndrome","Mosaic trisomy 20 syndrome","Mosaic trisomy 3 syndrome","Mosaic trisomy 7 syndrome","Mosaic trisomy 8 syndrome","Mosaic trisomy 9 syndrome","Mosaic variegated aneuploidy syndrome","Mounier-Kühn syndrome","Mowat-Wilson syndrome","Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome","Moyamoya disease","Moyamoya disease with early-onset achalasia","MPDU1-CDG","MPI-CDG","MSH3-related polyposis","MT-ATP6-related mitochondrial spastic paraplegia","Muckle-Wells syndrome","Mucolipidosis type II","Mucolipidosis type III","Mucolipidosis type IV","Mucopolysaccharidosis type 1","Mucopolysaccharidosis type 2","Mucopolysaccharidosis type 3","Mucopolysaccharidosis type 4","Mucopolysaccharidosis type 6","Mucopolysaccharidosis type 7","Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders","Mucous membrane pemphigoid","Mueller-Weiss syndrome","Muenke syndrome","Mulibrey nanism","Multicentric carpo-tarsal osteolysis with or without nephropathy","Multicentric osteolysis-nodulosis-arthropathy spectrum","Multicentric reticulohistiocytosis","Multicystic dysplastic kidney","Multifocal atrial tachycardia","Multifocal infantile hemangioma with extracutenous involvement","Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome","Multifocal motor neuropathy","Multiminicore myopathy","Multinodular goiter-cystic kidney-polydactyly syndrome","Multiple acyl-CoA dehydrogenase deficiency","Multiple benign circumferential skin creases on limbs","Multiple congenital anomalies-hypotonia-seizures syndrome","Multiple endocrine neoplasia type 1","Multiple endocrine neoplasia type 2","Multiple endocrine neoplasia type 4","Multiple epiphyseal dysplasia due to collagen 9 anomaly","Multiple epiphyseal dysplasia type 1","Multiple epiphyseal dysplasia type 4","Multiple epiphyseal dysplasia type 5","Multiple epiphyseal dysplasia, Lowry type","Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome","Multiple mitochondrial dysfunctions syndrome type 1","Multiple mitochondrial dysfunctions syndrome type 2","Multiple mitochondrial dysfunctions syndrome type 3","Multiple mitochondrial dysfunctions syndrome type 4","Multiple mitochondrial dysfunctions syndrome type 5","Multiple myeloma","Multiple osteochondromas","Multiple pterygium-malignant hyperthermia syndrome","Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome","Multiple sulfatase deficiency","Multiple symmetric lipomatosis","Multiple synostoses syndrome","Multiple system atrophy","Muscle filaminopathy","Muscle-eye-brain disease","Muscle-eye-brain disease with bilateral multicystic leucodystrophy","Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome","Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome","Muscular pseudohypertrophy-hypothyroidism syndrome","Musculocontractural Ehlers-Danlos syndrome","Mutilating hereditary sensory neuropathy with spastic paraplegia","Mutilating palmoplantar keratoderma with periorificial keratotic plaques","MUTYH-related polyposis","Myalgia-eosinophilia syndrome associated with tryptophan","Myasthenia gravis","Mycetoma","Mycophenolate mofetil embryopathy","Myelodysplastic neoplasm with increased blasts","Myelodysplastic neoplasm with low blasts","Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality","MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome","MYH9-related syndromic thrombocytopenia","Myhre syndrome","Myoclonic epilepsy of infancy","Myoclonus-cerebellar ataxia-deafness syndrome","Myoclonus-dystonia syndrome","Myopathic Ehlers-Danlos syndrome","Myopathy and diabetes mellitus","Myotonia fluctuans","Myotonia permanens","MYT1L-related developmental delay-intellectual disability-obesity syndrome","Myxopapillary ependymoma","Ménétrier disease","Müllerian aplasia and hyperandrogenism","Müllerian derivatives-lymphangiectasia-polydactyly syndrome","Müllerian duct anomalies-limb anomalies syndrome","N syndrome","NAD(P)HX dehydratase deficiency","NAD(P)HX epimerase deficiency","Naegeli-Franceschetti-Jadassohn syndrome","Nager syndrome","Nail-patella syndrome","Nail-patella-like renal disease","Nance-Horan syndrome","Narcolepsy type 1","Narcolepsy type 2","NARP syndrome","Nasolacrimal duct cyst","Nasopalpebral lipoma-coloboma syndrome","Nasu-Hakola disease","Nathalie syndrome","Native American myopathy","Naxos disease","Necrobiosis lipoidica","Necrotizing enterocolitis","Nelson syndrome","Neonatal acute respiratory distress syndrome due to SP-B deficiency","Neonatal adrenoleukodystrophy","Neonatal alloimmune neutropenia","Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome","Neonatal hemochromatosis","Neonatal ichthyosis-sclerosing cholangitis syndrome","Neonatal intrahepatic cholestasis due to citrin deficiency","Neonatal lupus erythematosus","Neonatal Marfan syndrome","Neonatal severe primary hyperparathyroidism","Nephroblastoma","Nephronophthisis","Nephropathy-deafness-hyperparathyroidism syndrome","Nephrosis-deafness-urinary tract-digital malformations syndrome","Netherton syndrome","Neu-Laxova syndrome","Neuhauser-Eichner-Opitz syndrome","Neuralgic amyotrophy","Neuroblastoma","Neurocutaneous melanocytosis","Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency","Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome","Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome","Neuroectodermal melanolysosomal disease","Neuroendocrine neoplasm of appendix","Neuroendocrine tumor of anal canal","Neuroendocrine tumor of stomach","Neuroendocrine tumor of the colon","Neuroendocrine tumor of the rectum","Neurofaciodigitorenal syndrome","Neuroferritinopathy","Neurofibroma","Neurofibromatosis type 1","Neurofibromatosis-Noonan syndrome","Neurogenic arthrogryposis multiplex congenita","Neuroleptic malignant syndrome","Neuromyelitis optica spectrum disorder","Neuronal intranuclear inclusion disease","Neurotrophic keratopathy","Neutral lipid storage disease with ichthyosis","Neutral lipid storage disease with myopathy","Neutropenia-monocytopenia-deafness syndrome","Nevus comedonicus syndrome","Nevus of Ito","New-onset refractory status epilepticus","Nicolaides-Baraitser syndrome","Niemann-Pick disease type C","Night blindness-skeletal anomalies-dysmorphism syndrome","Nijmegen breakage syndrome","Nipah virus disease","NK-cell enteropathy","NKX6-2-related autosomal recessive hypomyelinating leukodystrophy","NMDA receptor encephalitis","Nocardiosis","Nodular lymphocyte predominant Hodgkin lymphoma","Nodular neuronal heterotopia","Nodular non-suppurative panniculitis","Non-24-hour sleep-wake syndrome","Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome","Non-acquired isolated growth hormone deficiency","Non-acquired panhypopituitarism","Non-distal deletion 10q syndrome","Non-distal duplication 10q syndrome","Non-distal duplication 13q syndrome","Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome","Non-functioning paraganglioma","Non-functioning pituitary adenoma","Non-insulinoma pancreatogenous hypoglycemia syndrome","Non-involuting congenital hemangioma","Non-progressive cerebellar ataxia with intellectual disability","Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy","Non-specific autoimmune cerebellar ataxia with characteristic antibodies","Non-specific autoimmune supratentorial encephalitis with characteristic antibodies","Non-specific early-onset epileptic encephalopathy","Non-syndromic agammaglobulinemia","Non-syndromic bicoronal craniosynostosis","Non-syndromic bilambdoid and sagittal craniosynostosis","Non-syndromic metopic craniosynostosis","Non-syndromic posterior hypospadias","Non-syndromic sagittal craniosynostosis","Non-syndromic unicoronal craniosynostosis","Noonan syndrome","Noonan syndrome with multiple lentigines","Noonan syndrome-like disorder with loose anagen hair","Norrie disease","NPHP3-related Meckel-like syndrome","NTHL1-related polyposis","NUT midline carcinoma","O'Sullivan-McLeod syndrome","Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome","Occipital horn syndrome","Ocular albinism with late-onset sensorineural deafness","Ocular anomalies-axonal neuropathy-developmental delay syndrome","Ocular motor apraxia, Cogan type","Oculo-palato-cerebral syndrome","Oculoauriculofrontonasal syndrome","Oculoauriculovertebral spectrum with radial defects","Oculocerebral hypopigmentation syndrome, Cross type","Oculocerebral hypopigmentation syndrome, Preus type","Oculocerebrocutaneous syndrome","Oculocerebrofacial syndrome, Kaufman type","Oculocerebrorenal syndrome of Lowe","Oculocutaneous albinism type 1","Oculocutaneous albinism type 2","Oculocutaneous albinism type 3","Oculocutaneous albinism type 4","Oculocutaneous albinism type 5","Oculocutaneous albinism type 6","Oculodental syndrome, Rutherfurd type","Oculodentodigital dysplasia","Oculoectodermal syndrome","Oculofaciocardiodental syndrome","Oculogastrointestinal muscular dystrophy","Oculomaxillofacial dysostosis","Oculopharyngeal muscular dystrophy","Oculopharyngodistal myopathy","Oculoskeletodental syndrome","Oculotrichoanal syndrome","Odonto-onycho dysplasia-alopecia syndrome","Odontochondrodysplasia","Odontomatosis-aortae esophagus stenosis syndrome","Odontomicronychial dysplasia","Ogden syndrome","Oguchi disease","Oligoarticular juvenile idiopathic arthritis","Oligocone trichromacy","Oligodontia","Oligomeganephronia","Oliver syndrome","Olivopontocerebellar atrophy-deafness syndrome","Ollier disease","Omenn syndrome","Omphalocele","Omphalocele syndrome, Shprintzen-Goldberg type","Oncogenic osteomalacia","Ophthalmomandibulomelic dysplasia","Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome","Opitz GBBB syndrome","Opsismodysplasia","Opsoclonus-myoclonus syndrome","Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome","Optic atrophy-intellectual disability syndrome","Optic pathway glioma","Oral submucous fibrosis","Ornithine transcarbamylase deficiency","Orofaciodigital syndrome type 1","Orofaciodigital syndrome type 14","Orofaciodigital syndrome type 2","Orofaciodigital syndrome type 4","Orofaciodigital syndrome type 5","Oromandibular dystonia","Osgood-Schlatter disease","OSLAM syndrome","Ossification anomalies-psychomotor developmental delay syndrome","Osteochondritis dissecans","Osteochondrosis of the metatarsal bone","Osteochondrosis of the tarsal bone","Osteogenesis imperfecta","Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome","Osteoglosphonic dysplasia","Osteomesopyknosis","Osteopathia striata-cranial sclerosis syndrome","Osteopathia striata-pigmentary dermopathy-white forelock syndrome","Osteopenia-intellectual disability-sparse hair syndrome","Osteopetrosis with renal tubular acidosis","Osteoporosis-oculocutaneous hypopigmentation syndrome","Osteoporosis-pseudoglioma syndrome","Osteosarcoma","Osteosclerosis-developmental delay-craniosynostosis syndrome","Osteosclerosis-ichthyosis-premature ovarian failure syndrome","Osteosclerotic bone dysplasia","Otodental syndrome","Otofaciocervical syndrome","Otoonychoperoneal syndrome","Otopalatodigital syndrome type 1","Otopalatodigital syndrome type 2","Ovarian fibroma","Ovarian fibrothecoma","Ovarian hyperstimulation syndrome","Overgrowth-macrocephaly-facial dysmorphism syndrome","Overhydrated hereditary stomatocytosis","Overlap myositis","Oxoglutaric aciduria","Pachydermoperiostosis","Pachygyria-intellectual disability-epilepsy syndrome","Pachyonychia congenita","PAGOD syndrome","Pai syndrome","Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome","Pallister-Hall syndrome","Pallister-Killian syndrome","Palmoplantar keratoderma, Nagashima type","Palmoplantar keratoderma-deafness syndrome","Palmoplantar keratoderma-esophageal carcinoma syndrome","Palmoplantar keratoderma-spastic paralysis syndrome","Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome","Pancreatic agenesis-holoprosencephaly syndrome","Pancreatic colipase deficiency","Pancreatic hypoplasia-diabetes-congenital heart disease syndrome","Pancreatic triacylglycerol lipase deficiency","Pancreatoblastoma","PANDAS","Panhypophysitis","Panner disease","Panniculitis-induced localized lipodystrophy","Pantothenate kinase-associated neurodegeneration","PAPA syndrome","Papillary tumor of the pineal region","Papilloma of choroid plexus","Papillon-Lefèvre syndrome","Papular xanthoma","Paramyotonia congenita of Von Eulenburg","Parana hard skin syndrome","Paraneoplastic cerebellar degeneration","Paraneoplastic pemphigus","Paraneoplastic sensory ganglionopathy","Paraparetic variant of Guillain-Barré syndrome","Paraplegia-intellectual disability-hyperkeratosis syndrome","Parathyroid carcinoma","Paris-Trousseau thrombocytopenia","Parkes Weber syndrome","Parkinsonian-pyramidal syndrome","Paroxysmal cold hemoglobinuria","Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity","Paroxysmal exertion-induced dyskinesia","Paroxysmal extreme pain disorder","Paroxysmal hemicrania","Paroxysmal kinesigenic dyskinesia","Paroxysmal nocturnal hemoglobinuria","Paroxysmal non-kinesigenic dyskinesia","Partial androgen insensitivity syndrome","Partial atrioventricular septal defect","Partington syndrome","Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome","Patent urachus","Paternal 20q13.2q13.3 microdeletion syndrome","Paternal uniparental disomy of chromosome 1 syndrome","Paternal uniparental disomy of chromosome 5 syndrome","Paternal uniparental disomy of chromosome 6 syndrome","Paternal uniparental disomy of chromosome X syndrome","Patterson-Stevenson-Fontaine syndrome","Pauci-immune glomerulonephritis","PCDH19 clustering epilepsy","PCNA-related progressive neurodegenerative photosensitivity syndrome","PDE4D haploinsufficiency syndrome","Pearson syndrome","Pectus excavatum-macrocephaly-dysplastic nails syndrome","Pediatric acute respiratory distress syndrome","Pediatric hepatocellular carcinoma","Pediatric systemic lupus erythematosus","Pediatric-onset Graves disease","PEHO syndrome","Pelizaeus-Merzbacher disease","Pellagra","Pelvic dysplasia-arthrogryposis of lower limbs syndrome","Pelvis-shoulder dysplasia","Pelviscapular dysplasia","Pemphigoid gestationis","Pemphigus erythematosus","Pemphigus foliaceus","Pemphigus vegetans","Pemphigus vulgaris","Pendred syndrome","Penile agenesis","Penoscrotal transposition","Pentalogy of Cantrell","Pentasomy X syndrome","Pentosuria","Pericardial and diaphragmatic defect","Perihilar cholangiocarcinoma","Periodontal Ehlers-Danlos syndrome","Perioral myoclonia with absences","Peripartum cardiomyopathy","Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease","Peripheral motor neuropathy-dysautonomia syndrome","Peripheral primitive neuroectodermal tumor","Peritoneal inclusion cyst","Perlman syndrome","Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome","Peroxisomal acyl-CoA oxidase deficiency","Perrault syndrome","Perry syndrome","Persistent hyperplastic primary vitreous","Persistent idiopathic facial pain","Persistent Müllerian duct syndrome","Persistent placoid maculopathy","Peters anomaly","Peters plus syndrome","Peutz-Jeghers syndrome","PFAPA syndrome","Pfeiffer syndrome","Pfeiffer-Palm-Teller syndrome","PGM3-CDG","PHACE syndrome","Phacoanaphylactic uveitis","Phakomatosis pigmentokeratotica","Phakomatosis pigmentovascularis","PHAVER syndrome","Phelan-McDermid syndrome","Phenobarbital embryopathy","Phenylketonuria","PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome","Phocomelia, Schinzel type","Phosphoenolpyruvate carboxykinase deficiency","Phosphoribosylpyrophosphate synthetase superactivity","Piebald trait-neurologic defects syndrome","Piebaldism","Pierpont syndrome","Pierre-Robin sequence-Manzke dysostosis-clinodactyly of the index finger syndrome","Pierson syndrome","Pili bifurcati","Pili gemini","Pili torti","Pili torti-developmental delay-neurological abnormalities syndrome","Pili torti-onychodysplasia syndrome","Pilomatrixoma","Pineoblastoma","Pineocytoma","Pitt-Hopkins syndrome","Pituicytoma","Pituitary apoplexy","Pituitary carcinoma","Pituitary deficiency due to empty sella turcica syndrome","Pituitary deficiency due to Rathke cleft cysts","Pituitary dermoid and epidermoid cysts","Pituitary gigantism","Pituitary stalk interruption syndrome","Pityriasis rubra pilaris","PLA2G6-related neurodegeneration, adult-onset","PLA2G6-related neurodegeneration, infantile-onset","PLAA-associated neurodevelopmental disorder","Placental insufficiency","Placental site trophoblastic tumor","Plague","Platyspondylic dysplasia, Torrance type","PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement","Plectin-related limb-girdle muscular dystrophy R17","Pleural mesothelioma","PLIN1-related familial partial lipodystrophy","Plummer-Vinson syndrome","PMM2-CDG","PMP22-RAI1 contiguous gene duplication syndrome","Pneumocystosis","POEMS syndrome","Poland syndrome","Poliomyelitis","Polyarteritis nodosa","Polycythemia vera","Polydactyly-myopia syndrome","Polyembryoma","Polyendocrine-polyneuropathy syndrome","Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome","Polymerase proofreading-related polyposis","Polymicrogyria due to TUBB2B mutation","Polymicrogyria with optic nerve hypoplasia","Polymyositis","Polyneuropathy associated with IgM monoclonal gammopathy","Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome","Polyrrhinia","Polysyndactyly-cardiac malformation syndrome","POMGNT2-related limb-girdle muscular dystrophy R24","POMT1-related limb-girdle muscular dystrophy R11","POMT2-related limb-girdle muscular dystrophy R14","Pontiac fever","Porencephaly","Porokeratosis of Mibelli","Porokeratosis plantaris palmaris et disseminata","Porphyria cutanea tarda","Porphyria due to ALA dehydratase deficiency","Port-wine nevi-mega cisterna magna-hydrocephalus syndrome","Post-transplant lymphoproliferative disease","Post-traumatic pituitary deficiency","Postaxial acrofacial dysostosis","Postaxial polydactyly-dental and vertebral anomalies syndrome","Postaxial tetramelic oligodactyly","Postencephalitic parkinsonism","Posterior column ataxia-retinitis pigmentosa syndrome","Posterior cortical atrophy","Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome","Posterior polymorphous corneal dystrophy","Posterior urethral valve","Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome","Postinfectious vasculitis","Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome","Postorgasmic illness syndrome","Postpoliomyelitis syndrome","Potocki-Shaffer syndrome","PPARG-related familial partial lipodystrophy","PPoma","Prader-Willi syndrome","PRDM8-related progressive myoclonus epilepsy","Preaxial polydactyly-colobomata-intellectual disability syndrome","Preeclampsia","Pressure-induced localized lipoatrophy","Primary angiitis of the central nervous system","Primary basilar invagination","Primary biliary cholangitis","Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome","Primary ciliary dyskinesia","Primary condylar hyperplasia","Primary dystonia, DYT13 type","Primary dystonia, DYT17 type","Primary dystonia, DYT2 type","Primary dystonia, DYT21 type","Primary dystonia, DYT27 type","Primary dystonia, DYT4 type","Primary dystonia, DYT6 type","Primary effusion lymphoma","Primary erythromelalgia","Primary familial and congenital erythrocytosis","Primary Fanconi renotubular syndrome","Primary hepatic neuroendocrine carcinoma","Primary hyperaldosteronism-seizures-neurological abnormalities syndrome","Primary hypergonadotropic hypogonadism-partial alopecia syndrome","Primary hyperoxaluria","Primary hypomagnesemia-refractory seizures-intellectual disability syndrome","Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency","Primary intestinal lymphangiectasia","Primary lateral sclerosis","Primary membranoproliferative glomerulonephritis","Primary membranous glomerulonephritis","Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome","Primary myelofibrosis","Primary non-essential cutis verticis gyrata","Primary orthostatic tremor","Primary peritoneal carcinoma","Primary progressive freezing gait","Primary pulmonary hypoplasia","Primary sclerosing cholangitis","Primary Sjögren disease","Primary unilateral adrenal hyperplasia","PRKAR1B-related neurodegenerative dementia with intermediate filaments","Proboscis lateralis","Progeria-short stature-pigmented nevi syndrome","Progressive bifocal chorioretinal atrophy","Progressive cone dystrophy","Progressive deafness with stapes fixation","Progressive encephalopathy with leukodystrophy due to DECR deficiency","Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome","Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome","Progressive external ophthalmoplegia-myopathy-emaciation syndrome","Progressive familial intrahepatic cholestasis","Progressive hemifacial atrophy","Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome","Progressive multifocal leukoencephalopathy","Progressive myoclonic epilepsy type 1","Progressive myoclonic epilepsy type 3","Progressive myoclonic epilepsy with dystonia","Progressive nodular histiocytosis","Progressive non-fluent aphasia","Progressive non-infectious anterior vertebral fusion","Progressive osseous heteroplasia","Progressive pseudorheumatoid dysplasia","Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome","Progressive supranuclear palsy","Progressive symmetric erythrokeratodermia","Prolactinoma","Prolidase deficiency","Proliferating trichilemmal cyst","Prominent glabella-microcephaly-hypogenitalism syndrome","Propionic acidemia","Proteus syndrome","Proximal 16p11.2 microdeletion syndrome","Proximal 16p11.2 microduplication syndrome","Proximal 3p25.3 microdeletion syndrome","Proximal myopathy with extrapyramidal signs","Proximal myotonic myopathy","Proximal renal tubular acidosis","Proximal spinal muscular atrophy","Proximal symphalangism","Proximal Xq28 duplication syndrome","Prune belly syndrome","PRUNE1-related neurological syndrome","Pruritic urticarial papules and plaques of pregnancy","Pseudo-TORCH syndrome type 1","Pseudoachondroplasia","Pseudoaminopterin syndrome","Pseudodiastrophic dysplasia","Pseudohypoaldosteronism type 2","Pseudohypoparathyroidism type 1A","Pseudohypoparathyroidism type 1B","Pseudohypoparathyroidism type 1C","Pseudohypoparathyroidism type 2","Pseudoleprechaunism syndrome, Patterson type","Pseudomyxoma peritonei","Pseudopelade of Brocq","Pseudoprogeria syndrome","Pseudopseudohypoparathyroidism","Pseudoxanthoma elasticum","Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa","Psoriasis-related juvenile idiopathic arthritis","Psychogenic movement disorders","Pterygium colli-intellectual disability-digital anomalies syndrome","Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome","Ptosis-vocal cord paralysis syndrome","Pudendal nerve entrapment syndrome","Pulmonary alveolar microlithiasis","Pulmonary arteriovenous malformation","Pulmonary atresia-intact ventricular septum syndrome","Pulmonary blastoma","Pulmonary capillary hemangiomatosis","Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome","Pulmonary nodular lymphoid hyperplasia","Pulmonary non-tuberculous mycobacterial infection","Punctate palmoplantar keratoderma type 1","PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome","Pure autonomic failure","Pure mitochondrial myopathy","Purine nucleoside phosphorylase deficiency","Pycnodysostosis","PYCR2-related microcephaly-progressive leukoencephalopathy","Pyknoachondrogenesis","Pyle disease","Pyoderma gangrenosum","Pyomyositis","Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy","Pyridoxine-dependent-developmental and epileptic encephalopathy","Pyruvate carboxylase deficiency","Pyruvate dehydrogenase deficiency","Q fever","Qazi-Markouizos syndrome","Quinquaud folliculitis decalvans","Rabies","Rabson-Mendenhall syndrome","Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome","Radiation proctitis","Radio-renal syndrome","Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome","Radioulnar synostosis-developmental delay-hypotonia syndrome","Radioulnar synostosis-microcephaly-scoliosis syndrome","Ramon syndrome","Ramos-Arroyo syndrome","RAPADILINO syndrome","Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome","Rapid-onset dystonia-parkinsonism","Rapidly involuting congenital hemangioma","Rare non-syndromic genetic deafness","RARS-related autosomal recessive hypomyelinating leukodystrophy","Rasmussen syndrome","Rat-bite fever","Ravine syndrome","Reactive arthritis","Recessive dystrophic epidermolysis bullosa inversa","Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome","Recessive mitochondrial ataxia syndrome","Recessive X-linked ichthyosis","Recombinant 8 syndrome","Recurrent infections associated with rare immunoglobulin isotypes deficiency","Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome","Recurrent respiratory papillomatosis","Refractory celiac disease","Regional odontodysplasia","Relapsing fever","Relapsing polychondritis","Renal agenesis","Renal caliceal diverticuli-deafness syndrome","Renal coloboma syndrome","Renal dysplasia","Renal hypoplasia","Renal nutcracker syndrome","Renal tubular dysgenesis","Renal-hepatic-pancreatic dysplasia","Renin-angiotensin-aldosterone system-blocker-induced angioedema","Renpenning syndrome","RERE-related neurodevelopmental syndrome","Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta","Resistance to thyrotropin-releasing hormone syndrome","Respiratory bronchiolitis-interstitial lung disease syndrome","Restrictive dermopathy","Reticular dysgenesis","Retinal cavernous hemangioma","Retinal degeneration-nanophthalmos-glaucoma syndrome","Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations","Retinitis pigmentosa","Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome","Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome","Retinitis punctata albescens","Retinoblastoma","Retinopathy of prematurity","Rett syndrome","Reversible cerebral vasoconstriction syndrome","Revesz syndrome","Reynolds syndrome","RFT1-CDG","Rh deficiency syndrome","Rhabdoid tumor","Rheumatic fever","Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis","Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis","Rhizomelic chondrodysplasia punctata","Rhizomelic dysplasia, Patterson-Lowry type","Rhizomelic syndrome, Urbach type","RHYNS syndrome","Riboflavin transporter deficiency","Richards-Rundle syndrome","Richieri Costa-da Silva syndrome","Richieri Costa-Pereira syndrome","RIDDLE syndrome","Rift valley fever","Rigid spine syndrome","RIN2 syndrome","Ring chromosome 1 syndrome","Ring chromosome 10 syndrome","Ring chromosome 11 syndrome","Ring chromosome 12 syndrome","Ring chromosome 13 syndrome","Ring chromosome 14 syndrome","Ring chromosome 15 syndrome","Ring chromosome 16 syndrome","Ring chromosome 17 syndrome","Ring chromosome 18 syndrome","Ring chromosome 19 syndrome","Ring chromosome 2 syndrome","Ring chromosome 20 syndrome","Ring chromosome 21 syndrome","Ring chromosome 22 syndrome","Ring chromosome 3 syndrome","Ring chromosome 4 syndrome","Ring chromosome 6 syndrome","Ring chromosome 7 syndrome","Ring chromosome 8 syndrome","Ring chromosome 9 syndrome","Ring chromosome Y syndrome","Ringed hair disease","RNF13-related severe early-onset epileptic encephalopathy","RNU4-2-related autosomal dominant neurodevelopmental disorder","Roberts syndrome","Robin sequence-oligodactyly syndrome","Robinow syndrome","Roch-Leri mesosomatous lipomatosis","Roifman syndrome","Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome","Rolandic epilepsy-speech dyspraxia syndrome","Rosaï-Dorfman disease","Rothmund-Thomson syndrome","Rotor syndrome","Roussy-Lévy syndrome","Rubinstein-Taybi syndrome","Ruvalcaba syndrome","S-adenosylhomocysteine hydrolase deficiency","Saccharopinuria","Saethre-Chotzen syndrome","Sandhoff disease","Sandifer syndrome","Sanjad-Sakati syndrome","SAPHO syndrome","Sarcoidosis","Sarcosinemia","SATB2-associated syndrome","Satoyoshi syndrome","Say-Barber-Miller syndrome","Scalp defects-postaxial polydactyly syndrome","Scalp-ear-nipple syndrome","SCARF syndrome","Scedosporiosis","Schaaf-Yang syndrome","Schilder disease","Schimke immuno-osseous dysplasia","Schinzel-Giedion syndrome","Schisis association","Schizencephaly","Schneckenbecken dysplasia","Schnitzler syndrome","Schuurs-Hoeijmakers syndrome","Schwartz-Jampel syndrome","Schöpf-Schulz-Passarge syndrome","Scimitar syndrome","Scleromyxedema","Sclerosteosis","Scorpion envenomation","Scott syndrome","Scrub typhus","Sebocystomatosis","Seckel syndrome","Secondary erythromelalgia","Secondary hypoparathyroidism due to impaired parathormon secretion","Secondary intestinal lymphangiectasia","Secondary non-traumatic avascular necrosis","Secondary short bowel syndrome","Secondary syringomyelia","Segmental progressive overgrowth syndrome with fibroadipose hyperplasia","Segmental venous malformation","Seizures-intellectual disability due to hydroxylysinuria syndrome","Seizures-scoliosis-macrocephaly syndrome","Selective IgM deficiency","Self-improving collodion baby","Self-improving dystrophic epidermolysis bullosa","Self-limited epilepsy with centrotemporal spikes","Self-limited infantile epilepsy","Self-limited neonatal epilepsy","Self-limited neonatal/infantile epilepsy","Semantic dementia","Senior-Boichis syndrome","Senior-Loken syndrome","Sensorineural deafness with dilated cardiomyopathy","Sensorineural hearing loss-early graying-essential tremor syndrome","Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome","Septo-optic dysplasia spectrum","SERKAL syndrome","Serotonin syndrome","Serrated polyposis syndrome","Severe achondroplasia-developmental delay-acanthosis nigricans syndrome","Severe acute respiratory syndrome","Severe congenital hypochromic anemia with ringed sideroblasts","Severe congenital nemaline myopathy","Severe disseminated cytomegalovirus infection in immunocompetent patients","Severe early-childhood-onset retinal dystrophy","Severe generalized junctional epidermolysis bullosa","Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome","Severe hereditary thrombophilia due to congenital protein C deficiency","Severe hereditary thrombophilia due to congenital protein S deficiency","Severe intellectual disability and progressive spastic paraplegia","Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome","Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia","Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome","Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome","Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome","Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome","Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome","Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract","Severe oculo-renal-cerebellar syndrome","Severe primary trimethylaminuria","Severe X-linked intellectual disability, Gustavson type","Severe X-linked mitochondrial encephalomyopathy","Sheehan syndrome","Sheldon-Hall syndrome","Shigellosis","Short chain acyl-CoA dehydrogenase deficiency","Short fifth metacarpals-insulin resistance syndrome","Short rib-polydactyly syndrome, Verma-Naumoff type","Short stature due to GHSR deficiency","Short stature due to partial GHR deficiency","Short stature due to primary acid-labile subunit deficiency","Short stature, Brussels type","Short stature-advanced bone age-early-onset osteoarthritis syndrome","Short stature-brachydactyly-obesity-global developmental delay syndrome","Short stature-craniofacial anomalies-genital hypoplasia syndrome","Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome","Short stature-delayed bone age due to thyroid hormone metabolism deficiency","Short stature-valvular heart disease-characteristic facies syndrome","Short stature-webbed neck-heart disease syndrome","Short stature-wormian bones-dextrocardia syndrome","SHORT syndrome","Short ulna-dysmorphism-hypotonia-intellectual disability syndrome","Short-limb skeletal dysplasia with severe combined immunodeficiency","SHOX-related short stature","Shprintzen-Goldberg syndrome","Shwachman-Diamond syndrome","Sialidosis type 1","Sialidosis type 2","Sialuria","Sickle cell anemia","Silent sinus syndrome","Sillence syndrome","Silver-Russell syndrome","SIM1-related Prader-Willi-like syndrome","Simple cryoglobulinemia","Simpson-Golabi-Behmel syndrome","Sinding-Larsen-Johansson disease","Sirenomelia","Sitosterolemia","SIX2-related frontonasal dysplasia","Sjögren-Larsson syndrome","Skeletal dysplasia-epilepsy-short stature syndrome","Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome","SLC35A1-CDG","SLC35A2-CDG","SLC39A8-CDG","Sleep-related hypermotor epilepsy","Small bowel atresia","Small cell carcinoma of the bladder","Smith-Lemli-Opitz syndrome","Smith-Magenis syndrome","Snakebite envenomation","Sneddon syndrome","Soft and hard cleft palate","Solar urticaria","Solitary bone cyst","Solitary fibrous tumor","Solitary rectal ulcer syndrome","Somatomammotropinoma","Somatostatinoma","Sorsby fundus dystrophy","Sorsby syndrome","Sotos syndrome","Southeast Asian ovalocytosis","Spasmus nutans","Spastic ataxia with congenital miosis","Spastic ataxia-corneal dystrophy syndrome","Spastic paraparesis-deafness syndrome","Spastic paraplegia type 2","Spastic paraplegia type 7","Spastic paraplegia-facial-cutaneous lesions syndrome","Spastic paraplegia-glaucoma-intellectual disability syndrome","Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome","Spastic paraplegia-nephritis-deafness syndrome","Spastic paraplegia-neuropathy-poikiloderma syndrome","Spastic paraplegia-optic atrophy-neuropathy syndrome","Spastic paraplegia-Paget disease of bone syndrome","Spastic paraplegia-precocious puberty syndrome","Spastic paraplegia-severe developmental delay-epilepsy syndrome","Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome","Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome","SPECC1L-related hypertelorism syndrome","Spectrin-associated autosomal recessive cerebellar ataxia","Spina bifida-hypospadias syndrome","Spinal arteriovenous metameric syndrome","Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome","Spinal muscular atrophy-progressive myoclonic epilepsy syndrome","Spinocerebellar ataxia type 1","Spinocerebellar ataxia type 10","Spinocerebellar ataxia type 11","Spinocerebellar ataxia type 12","Spinocerebellar ataxia type 13","Spinocerebellar ataxia type 14","Spinocerebellar ataxia type 15/16","Spinocerebellar ataxia type 17","Spinocerebellar ataxia type 18","Spinocerebellar ataxia type 19/22","Spinocerebellar ataxia type 2","Spinocerebellar ataxia type 20","Spinocerebellar ataxia type 21","Spinocerebellar ataxia type 23","Spinocerebellar ataxia type 25","Spinocerebellar ataxia type 26","Spinocerebellar ataxia type 27A","Spinocerebellar ataxia type 28","Spinocerebellar ataxia type 29","Spinocerebellar ataxia type 3","Spinocerebellar ataxia type 30","Spinocerebellar ataxia type 31","Spinocerebellar ataxia type 32","Spinocerebellar ataxia type 34","Spinocerebellar ataxia type 35","Spinocerebellar ataxia type 36","Spinocerebellar ataxia type 37","Spinocerebellar ataxia type 38","Spinocerebellar ataxia type 4","Spinocerebellar ataxia type 40","Spinocerebellar ataxia type 41","Spinocerebellar ataxia type 42","Spinocerebellar ataxia type 43","Spinocerebellar ataxia type 5","Spinocerebellar ataxia type 6","Spinocerebellar ataxia type 7","Spinocerebellar ataxia type 8","Spinocerebellar ataxia with axonal neuropathy type 1","Spinocerebellar ataxia with axonal neuropathy type 2","Spinocerebellar ataxia with epilepsy","Spinocerebellar ataxia-dysmorphism syndrome","Spinocerebellar degeneration-corneal dystrophy syndrome","Splenogonadal fusion-limb defects-micrognathia syndrome","Split cord malformation type I","Split-foot malformation-mesoaxial polydactyly syndrome","SPONASTRIME dysplasia","Spondylo-ocular syndrome","Spondylocamptodactyly syndrome","Spondylocarpotarsal synostosis","Spondylodysplastic Ehlers-Danlos syndrome","Spondyloenchondrodysplasia","Spondyloepimetaphyseal dysplasia congenita, Strudwick type","Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type","Spondyloepimetaphyseal dysplasia, aggrecan type","Spondyloepimetaphyseal dysplasia, Handigodu type","Spondyloepimetaphyseal dysplasia, Irapa type","Spondyloepimetaphyseal dysplasia, matrilin-3 type","Spondyloepimetaphyseal dysplasia, Missouri type","Spondyloepimetaphyseal dysplasia, Shohat type","Spondyloepiphyseal dysplasia congenita","Spondyloepiphyseal dysplasia tarda","Spondyloepiphyseal dysplasia tarda, Kohn type","Spondyloepiphyseal dysplasia, Kimberley type","Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome","Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome","Spondylometaphyseal dysplasia, 'corner fracture' type","Spondylometaphyseal dysplasia, A4 type","Spondylometaphyseal dysplasia, Kozlowski type","Spondylometaphyseal dysplasia, Schmidt type","Spondylometaphyseal dysplasia, Sedaghatian type","Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome","Spondyloperipheral dysplasia-short ulna syndrome","Spontaneous periodic hypothermia","Sporadic adult-onset ataxia of unknown etiology","Sporadic Creutzfeldt-Jakob disease","Sporadic fetal brain disruption sequence","Sporadic infantile bilateral striatal necrosis","Sporadic pheochromocytoma/secreting paraganglioma","Sprengel deformity","Squamous cell carcinoma of the anal canal","Squamous cell carcinoma of the esophagus","SRD5A3-CDG","SSR4-CDG","STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome","Staphylococcal necrotizing pneumonia","Stargardt disease","STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome","Steinert myotonic dystrophy","Sternal cleft","Steroid dehydrogenase deficiency-dental anomalies syndrome","Steroid-responsive encephalopathy associated with autoimmune thyroiditis","Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum","Stickler syndrome","Stiff person spectrum disorder","Stiff skin syndrome","Stimmler syndrome","Stormorken-Sjaastad-Langslet syndrome","Striate palmoplantar keratoderma","STT3A-CDG","STT3B-CDG","Sturge-Weber syndrome","STXBP1-related developmental and epileptic encephalopathy","Stüve-Wiedemann syndrome","Subacute cutaneous lupus erythematosus","Subacute inflammatory demyelinating polyneuropathy","Subacute sclerosing leukoencephalitis","Subaortic stenosis-short stature syndrome","Subcorneal pustular dermatosis","Subcutaneous panniculitis-like T-cell lymphoma","Subependymoma","Submucosal cleft palate","Succinic semialdehyde dehydrogenase deficiency","Succinyl-CoA:3-oxoacid CoA transferase deficiency","Sudden infant death-dysgenesis of the testes syndrome","SUNCT syndrome","Superficial epidermolytic ichthyosis","Superficial siderosis","Supernumerary nostril","Supravalvular aortic stenosis","Susac syndrome","Sweet syndrome","Symbrachydactyly of hands and feet","Symmetrical thalamic calcifications","Sympathetic ophthalmia","Symphalangism with multiple anomalies of hands and feet","Symptomatic form of Coffin-Lowry syndrome in female carriers","Symptomatic form of HFE-related hemochromatosis","Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers","Syndactyly type 1","Syndactyly type 2","Syndactyly type 3","Syndactyly type 4","Syndactyly type 5","Syndactyly-telecanthus-anogenital and renal malformations syndrome","Syndromic multisystem autoimmune disease due to Itch deficiency","Syndromic recessive X-linked ichthyosis","SYNGAP1-related developmental and epileptic encephalopathy","Syringocystadenoma papilliferum","Systemic capillary leak syndrome","Systemic lupus erythematosus","Systemic mastocytosis with associated hematologic neoplasm","Systemic primary carnitine deficiency","Systemic sclerosis","Systemic-onset juvenile idiopathic arthritis","Sézary syndrome","T-B+NK+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta deficiency","T-B+NK+ severe combined immunodeficiency due to FOXN1 deficiency","T-B+NK+ severe combined immunodeficiency due to IL-7Ralpha deficiency","T-B+NK- severe combined immunodeficiency due to gamma chain deficiency","T-B+NK- severe combined immunodeficiency due to JAK3 deficiency","T-B-NK+  severe combined immunodeficiency due to complete RAG1/2 deficiency","T-B-NK+ severe combined immunodeficiency due to DCLRE1C deficiency","T-B-NK- severe combined immunodeficiency due to adenosine deaminase deficiency","T-cell immunodeficiency with thymic aplasia","TAFRO syndrome","Takayasu arteritis","Takenouchi-Kosaki syndrome","Tako-Tsubo cardiomyopathy","Tall stature-intellectual disability-renal anomalies syndrome","Talo-patello-scaphoid osteolysis","Tangier disease","TARP syndrome","Tarsal-carpal coalition syndrome","Tatton-Brown-Rahman syndrome","Tay-Sachs disease","TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome","TELO2-related intellectual disability-neurodevelopmental disorder","TEMPI syndrome","Temple syndrome","Temple-Baraitser syndrome","Temtamy preaxial brachydactyly syndrome","Temtamy syndrome","Tenosynovial giant cell tumor","Terminal osseous dysplasia-pigmentary defects syndrome","Testicular agenesis","Testicular regression syndrome","Tetanus","Tetraamelia-multiple malformations syndrome","Tetragametic chimerism syndrome","Tetralogy of Fallot","Tetramelic monodactyly","Tetraploidy syndrome","Tetrasomy 18p syndrome","Tetrasomy 21 syndrome","Tetrasomy 5p syndrome","Tetrasomy 9p syndrome","Tetrasomy X syndrome","TFR2-related hemochromatosis","Thakker-Donnai syndrome","Thalidomide embryopathy","Thanatophoric dysplasia","Thiamine-responsive megaloblastic anemia syndrome","Thiel-Behnke corneal dystrophy","Thiemann disease, familial form","Thin ribs-tubular bones-dysmorphism syndrome","THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome","Thomas syndrome","Thomsen and Becker disease","Thoracic dysplasia-hydrocephalus syndrome","Thoracic outlet syndrome","Thoraco-abdominal enteric duplication","Thoracomelic dysplasia","Thrombocytopenia with congenital dyserythropoietic anemia","Thrombocytopenia-absent radius syndrome","Thrombotic thrombocytopenic purpura","Thumb deformity-alopecia-pigmentation anomaly syndrome","Thumb stiffness-brachydactyly-intellectual disability syndrome","Thymic carcinoma","Thymic neuroendocrine tumor","Thymoma","Thymoma-hypogammaglobulinemia syndrome","Thyrocerebrorenal syndrome","Thyroid ectopia","Thyroid hemiagenesis","Thyroid hypoplasia","Thyroid lymphoma","Thyrotoxic periodic paralysis","Tibial aplasia-ectrodactyly syndrome","Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome","Tibial muscular dystrophy","Tick-borne encephalitis","Tietz syndrome","TK2-related mitochondrial DNA maintenance defect, myopathic form","TMEM70-related mitochondrial encephalo-cardio-myopathy","Toluene embryopathy","Toriello-Carey syndrome","Townes-Brocks syndrome","Tracheal agenesis","Tracheobronchopathia osteochondroplastica","Transaldolase deficiency","Transcobalamin II deficiency","Transgrediens et progrediens palmoplantar keratoderma","Transient neonatal diabetes mellitus","Transient predisposition to invasive pyogenic bacterial infection","Transketolase deficiency","TRAPPC11-related limb-girdle muscular dystrophy R18","Treacher-Collins syndrome","Trehalase deficiency","Tremor-nystagmus-duodenal ulcer syndrome","Trichinellosis","Tricho-dento-osseous syndrome","Tricho-retino-dento-digital syndrome","Trichodermodysplasia-dental alterations syndrome","Trichodysplasia-amelogenesis imperfecta syndrome","Trichodysplasia-xeroderma syndrome","Trichohepatoenteric syndrome","Trichomegaly-retina pigmentary degeneration-dwarfism syndrome","Trichorhinophalangeal syndrome type 1","Trichorhinophalangeal syndrome type 2","Trichothiodystrophy","Tricuspid atresia","Trigeminal neuralgia","Trigonocephaly-short stature-developmental delay syndrome","TRIM32-related limb-girdle muscular dystrophy R8","Triose phosphate-isomerase deficiency","Triple A syndrome","Triploidy syndrome","Trismus-pseudocamptodactyly syndrome","Trisomy 10p syndrome","Trisomy 12p syndrome","Trisomy 13 syndrome","Trisomy 17p syndrome","Trisomy 18 syndrome","Trisomy 18p syndrome","Trisomy 1q syndrome","Trisomy 20p syndrome","Trisomy 4p syndrome","Trisomy 5p syndrome","Trisomy 8p syndrome","Trisomy 8q syndrome","Trisomy 9p syndrome","Trisomy X syndrome","Tritanopia","Tropical endomyocardial fibrosis","Tropical pancreatitis","TSH-secreting pituitary adenoma","Tuberous sclerosis complex","Tubular aggregate myopathy","Tubulinopathy-associated dysgyria","Tubulointerstitial nephritis and uveitis syndrome","Tufted angioma","Tularemia","Tumor necrosis factor receptor 1 associated periodic syndrome","Turner syndrome","Typhoid","Typical nemaline myopathy","Tyrosinemia type 1","Tyrosinemia type 2","Tyrosinemia type 3","Uhl anomaly","Ulbright-Hodes syndrome","Ulerythema ophryogenesis","Ullrich congenital muscular dystrophy","Ulna hypoplasia-intellectual disability syndrome","Ulnar hypoplasia-split foot syndrome","Ulnar-mammary syndrome","Ulnar/fibula ray defect-brachydactyly syndrome","Umbilical cord ulceration-intestinal atresia syndrome","Unclassified myelodysplastic syndrome","Uncombable hair syndrome","Undifferentiated connective tissue syndrome","Undifferentiated pleomorphic sarcoma","Unilateral ocular duplication","Unilateral polymicrogyria","Univentricular heart","Unstable beta globin chain variant disease","Upington disease","Upper limb defect-eye and ear abnormalities syndrome","Upper limb mesomelic dysplasia, type Fryns","Urachal cyst","Urachal diverticulum","Urachal sinus","Urban-Rogers-Meyer syndrome","Urocanic aciduria","Urofacial syndrome","Usher syndrome","Uveal coloboma-cleft lip and palate-intellectual disability","VACTERL with hydrocephalus","VACTERL/VATER association","Vacuolar myopathy with sarcoplasmic reticulum protein aggregates","Vaginal atresia","Van den Ende-Gupta syndrome","Van der Woude syndrome","Variant ABeta2M amyloidosis","Variegate porphyria","Vascular Ehlers-Danlos syndrome","Vein of Galen malformation","Velo-facial-skeletal syndrome","Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome","Verloove Vanhorick-Brubakk syndrome","Vernal keratoconjunctivitis","Verrucous venous malformation","Very long chain acyl-CoA dehydrogenase deficiency","Vici syndrome","VIPoma","Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome","Visual snow syndrome","Vitamin B12-responsive methylmalonic acidemia","Vitamin B12-unresponsive methylmalonic acidemia","Vitamin K antagonist embryofetopathy","Vocal cord and pharyngeal distal myopathy","Vogt-Koyanagi-Harada disease","Von Hippel-Lindau disease","Von Voss-Cherstvoy syndrome","Von Willebrand disease","VPS11-related autosomal recessive hypomyelinating leukodystrophy","Vulvovaginal gingival syndrome","W syndrome","Waardenburg syndrome","Waardenburg-Shah syndrome","WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome","Wagner disease","WAGR syndrome","Waldenström macroglobulinemia","Walker-Warburg syndrome","WARS2-related combined oxidative phosphorylation defect","Warty dyskeratoma","Weaver syndrome","Weaver-Williams syndrome","Weill-Marchesani syndrome","Weismann-Netter syndrome","Weiss-Kruszka Syndrome","Wells syndrome","Werner syndrome","WHIM syndrome","Whipple disease","White forelock with malformations","White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome","White-Sutton syndrome","Wieacker-Wolff syndrome","Wiedemann-Rautenstrauch syndrome","Wiedemann-Steiner syndrome","Wild type ABeta2M amyloidosis","Wild type ATTR amyloidosis","Wildervanck syndrome","Williams syndrome","Wilson disease","Wilson-Turner syndrome","Wiskott-Aldrich syndrome","Witteveen-Kolk syndrome","Wolcott-Rallison syndrome","Wolf-Hirschhorn syndrome","Wolfram syndrome","Wolfram-like syndrome","Woodhouse-Sakati syndrome","Woods-Black-Norbury syndrome","Woolly hair","Woolly hair nevus","Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia","Worster-Drought syndrome","X small rings syndrome","X-linked acrogigantism","X-linked adrenal hypoplasia congenita","X-linked adrenoleukodystrophy","X-linked alpha-thalassemia-intellectual disability syndrome","X-linked centronuclear myopathy","X-linked cerebral-cerebellar-coloboma syndrome","X-linked Charcot-Marie-Tooth disease type 1","X-linked Charcot-Marie-Tooth disease type 2","X-linked Charcot-Marie-Tooth disease type 3","X-linked Charcot-Marie-Tooth disease type 4","X-linked Charcot-Marie-Tooth disease type 5","X-linked Charcot-Marie-Tooth disease type 6","X-linked corneal dermoid","X-linked creatine transporter deficiency","X-linked dominant chondrodysplasia punctata","X-linked dominant chondrodysplasia, Chassaing-Lacombe type","X-linked dystonia-parkinsonism","X-linked Ehlers-Danlos syndrome","X-linked endothelial corneal dystrophy","X-linked epilepsy-learning disabilities-behavior disorders syndrome","X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability","X-linked hypophosphatemia","X-linked intellectual disability due to GRIA3 mutations","X-linked intellectual disability, Abidi type","X-linked intellectual disability, Armfield type","X-linked intellectual disability, Cabezas type","X-linked intellectual disability, Cantagrel type","X-linked intellectual disability, Cilliers type","X-linked intellectual disability, Hedera type","X-linked intellectual disability, Najm type","X-linked intellectual disability, Nascimento type","X-linked intellectual disability, Pai type","X-linked intellectual disability, Schimke type","X-linked intellectual disability, Seemanova type","X-linked intellectual disability, Shashi type","X-linked intellectual disability, Shrimpton type","X-linked intellectual disability, Siderius type","X-linked intellectual disability, Snyder type","X-linked intellectual disability, Stevenson type","X-linked intellectual disability, Stocco Dos Santos type","X-linked intellectual disability, Stoll type","X-linked intellectual disability, Van Esch type","X-linked intellectual disability, Wilson type","X-linked intellectual disability-acromegaly-hyperactivity syndrome","X-linked intellectual disability-ataxia-apraxia syndrome","X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome","X-linked intellectual disability-cerebellar hypoplasia syndrome","X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome","X-linked intellectual disability-craniofacioskeletal syndrome","X-linked intellectual disability-cubitus valgus-dysmorphism syndrome","X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome","X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome","X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome","X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome","X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome","X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome","X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome","X-linked intellectual disability-hypotonia-movement disorder syndrome","X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency","X-linked intellectual disability-macrocephaly-macroorchidism syndrome","X-linked intellectual disability-plagiocephaly syndrome","X-linked intellectual disability-psychosis-macroorchidism syndrome","X-linked intellectual disability-retinitis pigmentosa syndrome","X-linked intellectual disability-seizures-psoriasis syndrome","X-linked intellectual disability-short stature-overweight syndrome","X-linked lissencephaly with abnormal genitalia","X-linked lymphoproliferative disease due to XIAP deficiency","X-linked mandibulofacial dysostosis","X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome","X-linked myotubular myopathy-abnormal genitalia syndrome","X-linked neurodegenerative syndrome, Bertini type","X-linked neurodegenerative syndrome, Hamel type","X-linked non progressive cerebellar ataxia","X-linked parkinsonism-spasticity syndrome","X-linked progressive cerebellar ataxia","X-linked recessive ocular albinism","X-linked retinoschisis","X-linked severe congenital neutropenia","X-linked sideroblastic anemia","X-linked sideroblastic anemia and spinocerebellar ataxia","X-linked skeletal dysplasia-intellectual disability syndrome","X-linked spastic paraplegia type 16","X-linked spastic paraplegia type 34","X-linked spasticity-intellectual disability-epilepsy syndrome","X-linked spinocerebellar ataxia type 3","X-linked spinocerebellar ataxia type 4","Xanthoma disseminatum","Xeroderma pigmentosum","Xeroderma pigmentosum variant","Xeroderma pigmentosum-Cockayne syndrome complex","XK aprosencephaly syndrome","Xp21 deletion syndrome","Xp22.13p22.2 duplication syndrome","Xp22.3 microdeletion syndrome","Xq12-q13.3 duplication syndrome","Xq21 microdeletion syndrome","Xq25 microduplication syndrome","Xq27.3q28 duplication syndrome","XY type gonadal dysgenesis-associated anomalies syndrome","XYLT1-CDG","Yellow fever","Young syndrome","Young-onset Parkinson disease","Yunis-Varon syndrome","Zebra body myopathy","Zechi-Ceide syndrome","Zellweger syndrome","Zellweger-like syndrome without peroxisomal anomalies","Zika virus disease","Zimmermann-Laband syndrome","Zollinger-Ellison syndrome","ZTTK syndrome","Zygomycosis","Åland Islands eye disease"],"aliases":["1-alpha-hydroxylase deficiency","1-pyrroline-5-carboxylate dehydrogenase activity disease","10q24 microduplication syndrome","11 Beta-hydroxysteroid dehydrogenase type 2 deficiency","11-beta-hydroxysteroid dehydrogenase deficiency type 1","11-beta-hydroxysteroid dehydrogenase deficiency type 2","11p partial monosomy syndrome","11p11.2 deletion","11q terminal deletion disorder","11q terminal deletion syndrome","11q22.2-q22.3 deletion syndrome","13q32 deletion","14q22-q23 microdeletion syndrome","15q11-q13 duplication syndrome","15q11-q13 microduplication syndrome","15q11.2 BP1-BP2 microdeletion syndrome","15q11q13 duplication syndrome","15q26 deletion syndrome","15q26 overgrowth syndrome","16p11.2 microduplication syndrome","16p11.2-p12.2 microdeletion syndrome","16p11.2-p12.2 microduplication syndrome","16p13.11 recurrent microdeletion (neurocognitive disorder susceptibility locus)","17 Beta HSD3 deficiency","17-alpha-hydroxylase/17,20-lyase deficiency","17-beta-hydroxysteroid dehydrogenase 10 deficiency","17-beta-hydroxysteroid dehydrogenase 3 deficiency","17-beta-hydroxysteroid dehydrogenase X deficiency","17-ketoreductase deficiency","17-ketosteroidreductase deficiency","17p11.2 Duplication syndrome","17p11.2 microdeletion syndrome","17p11.2p12 microduplication syndrome","17p13.3 duplication syndrome","17q11 microdeletion syndrome","18p-","18p- syndrome","18q deletion syndrome","18q- syndrome","1p telomere deletion syndrome","1p36 microdeletion syndrome","1q21.1 susceptibility locus for Thrombocytopenia-Absent Radius (TAR) syndrome","2,4-dienoyl-CoA reductase deficiency","2,8-dihydroxyadenine urolithiasis","2,8-dihydroxyadeninuria disease","2-methyl-3-hydroxybutyric aciduria","2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency","2-methylacyl-CoA racemase deficiency","2-methylbutyric aciduria","2-methylbutyrylglycinuria","20p subtelomeric deletion syndrome","21-OHD","21q- syndrome","21q22.11-q22.12 microdeletion syndrome","22q11 duplication syndrome","22q11.2 microduplication syndrome","22q11DS","2A syndrome","2p15-p16.1 microdeletion syndrome","2p21 deletion syndrome","2q37 monosomy","3-beta HSD deficiency","3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency","3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency type 1","3-hydroxy-3-methylglutaryl-CoA lyase deficiency","3-hydroxyacyl-CoA dehydrogenase 2 deficiency","3-hydroxyisobutyryl-CoA hydrolase deficiency","3-ketothiolase deficiency","3-M syndrome","3-MCC deficiency","3-mercaptopyruvate sulfurtransferase deficiency","3-methylcrotonylglycinuria","3-methylglutaconic aciduria type 2","3-methylglutaconic aciduria type 5","3-methylglutaconic aciduria type 7","3-methylglutaconic aciduria type V","3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome","3-methylglutaconic aciduria with hearing loss-encephalopathy-Leigh-like syndrome","3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome","3-methylglutaconyl-CoA hydratase deficiency","3-OH 3-Methyl glutaric aciduria","3-oxo-5 Alpha-steroid Delta 4-dehydrogenase deficiency","3-oxothiolase deficiency","3A syndrome","3MG-CoA hydratase deficiency","3p deletion syndrome","3p- syndrome","3q subtelomere deletion syndrome","3q23 microdeletion syndrome","3qter deletion","4-alpha-hydroxyphenylpyruvate hydroxylase deficiency","4-HPPD deficiency","4-hydroxybutyric aciduria","4-hydroxyphenylpyruvic acid dioxygenase deficiency","45,X gonadal dysgenesis","45,X syndrome","45,X/46,XX syndrome","45,X/46,XY disorder of Sex development","45,X/46,XY gonadal dysgenesis","45,X/46,XY MGD","45,X0 syndrome","45,X0/46,XY MGD","45,X0/46,XY mixed gonadal dysgenesis","45X syndrome","46 XY gonadal dysgenesis","46, XY sex reversal 11","46,XX complete gonadal dysgenesis","46,XX disorder of sex development-anorectal anomalies syndrome","46,XX disorder of sex development-skeletal anomalies syndrome","46,XX ovarian dysgenesis","46,XX ovotesticular disorder of sex development","46,XX ovotesticular DSD","46,XX pure gonadal dysgenesis","46,XX Sex reversal with dysgenesis of kidneys Adrenals and lungs","46,XX testicular differences of sex development","46,XX testicular disorder of sex development","46,XX testicular disorders of Sex development","46,XX testicular DSD","46,XX/46,XY chimerism","46,XY CGD","46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency","46,XY disorder of sex development due to isolated 17,20-lyase deficiency","46,XY DSD due to 5-alpha-reductase 2 deficiency","46,XY ovotesticular disorder of sex development","46,XY ovotesticular DSD","46,XY partial testicular dysgenesis","46,XY PGD","46,XY pure gonadal dysgenesis","46,XY SEX reversal","46XY gonadal dysgenesis with minifascicular neuropathy","47,XXX","47,XXX syndrome","47,XYY","48,XXXX syndrome","49,XXXXX syndrome","4A syndrome","4p deletion syndrome","4p- syndrome","5 Alpha steroid reductase 2 deficiency","5-amino-4-imidazole carboxamide ribosiduria","5-oxoprolinase deficiency (disease)","5-oxoprolinuria","5p deletion syndrome","5p partial monosomy syndrome","5Q minus syndrome","5q- syndrome","5q- syndrome, refractory macrocytic anaemia due to 5q deletion","5q23 microdeletion syndrome","6p subtelomeric deletion syndrome","6p25 microdeletion syndrome","7-dehydrocholesterol reductase deficiency","7q36.3 microduplication syndrome","8q13 microdeletion syndrome","9p deletion","9p deletion syndrome","9p duplication","9p monosomy","9p trisomy","9p- syndrome","9Q- syndrome","9q33.3-q34.11 microdeletion syndrome","9q34 deletion syndrome","9q34.3 microdeletion syndrome","A-1ATD","A1AD","AAA syndrome","AADC deficiency","Aagenaes syndrome","AAPC","Aarskog syndrome","Aarskog-like syndrome","Aarskog-Ose-Pande syndrome","Aase syndrome","Aase-Smith I syndrome","Aase-Smith II syndrome","Aase-Smith syndrome","AAT deficiency","AAT1","Abdominal muscle deficiency syndrome","ABE","Aberfeld syndrome","ABERS","ABeta2Mwt amyloidosis","abnormal hair, joint laxity, and developmental delay","ABPA","ABS","Absence of dermatoglyphics-congenital milia syndrome","absent corpus callosum-cataract-immunodeficiency syndrome","Absent eyebrows and eyelashes-intellectual disability syndrome","Absent tibia-polydactyly syndrome","absent/small kidney","absent/underdeveloped kidney","ABSN","Acanthamoeba caused keratitis","acatalasia","ACC","ACC-abnormal genitalia syndrome","Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome","Accessory nostril","ACD-intellectual disability syndrome","ACDMPV","ACE inhibitor-related acquired angioedema","ACEI-related acquired angioedema","Acetazolamide-responsive congenital myotonia","acetazolamide-responsive periodic ataxia","ACFS","ACH","Achalasia cardia","Achalasia-addisonianism-alacrima syndrome","acheiropodia","acheiropody","ACHM","Achondroplasia-SCID syndrome","Achondroplasia-severe combined immunodeficiency syndrome","Achondroplasia-Swiss type agammaglobulinemia syndrome","Acid beta-glucosidase deficiency","Acid ceramidase deficiency","acid maltase deficiency","acid-labile subunit, deficiency of","Ackerman dermatitis syndrome","Ackerman syndrome","acne Nevus","acneiform Nevus","ACNES","ACPS2","Acquired angioedema with normal C1 inhibitor","Acquired angioedema with normal C1INH","Acquired epidermolysis bullosa","Acquired epileptic aphasia","acquired haemoglobin H disease","Acquired HbH disease","Acquired hemoglobin H disease","acquired ichthyosis (disease)","acquired idiopathic sideroblastic anaemia","Acquired lipoatrophic diabetes","Acquired myasthenia","acquired neuromyotonia","acquired paroxysmal nocturnal hemoglobinuria","acquired PF","Acquired primary erythrocytosis","Acquired von Willebrand disease","acquired von Willebrand disease (hereditary or acquired)","acral deciduous skin","Acral dysostosis with facial and genital abnormalities","Acral PSS","Acral SHCB","Acrania","Acro-dermato-ungual-lacrimal-tooth syndrome","Acrocephalopolydactylous dysplasia","Acrocephalopolysyndactyly type 2","acrocephalopolysyndactyly type II","Acrocephalosyndactyly type 1","Acrocephalosyndactyly type 3","Acrocephalosyndactyly type 5","acrocephalosyndactyly type I","acrocephalosyndactyly type V","acrodentoosteodysplasia","Acrodermatitis enteropathica, zinc deficiency type","acrodermatounguallacrimaltooth syndrome","Acrodysostosis with or without multiple hormonal resistance","Acrodysplasia","acrofacial dysostosis 1, Nager type","Acrofacial dysostosis, Genee-Wiedemann type","acrofrontofacionasal dysostosis 2","Acrofrontofacionasal dysostosis type 2","Acrofrontofacionasal syndrome type 2","Acrogeria, Gottron type","Acrokeratosis of Bazex","Acrokeratosis paraneoplastica","Acrokeratosis paraneoplastica of Bazex","acrokeratosis verruciformis","Acromelic frontonasal dysostosis","Acromesomelic dwarfism","acromesomelic dysplasia 1, Maroteaux type","acromesomelic dysplasia 2A","acromesomelic dysplasia 2B","acromesomelic dysplasia 2C, Hunter-Thompson type","Acrometageria","Acroosteolysis dominant type","Acroosteolysis with osteoporosis and changes in skull and mandible","Acropigmentation of Dohi","Acrorenal defect-ectodermal dysplasia-diabetes syndrome","ACRP syndrome","ACS1","ACS3","ACS5","ACTH producing pituitary adenoma","ACTH-independent macronodular adrenal hyperplasia","Actinic reticuloid","Activated p110delta syndrome, type 1","Activated p110delta syndrome, type 2","Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS)","Activated phosphoinositide 3-kinase delta syndrome type 2","Activated phosphoinositide 3-kinase delta syndrome-1","acute (malignant) myelofibrosis","acute (malignant) myelosclerosis","Acute adrenal failure","Acute adrenocortical insufficiency","Acute bilateral striatal necrosis","Acute brachial plexus neuritis","Acute demyelinating encephalomyelitis","Acute disseminated encephalitis","Acute encephalitis with refractory repetitive partial seizures","Acute Eosinophilic Pneumonia","acute erythroblastic leukaemia","acute erythroblastic leukemia","acute febrile mucocutaneous lymph node syndrome","acute febrile mucocutaneous lymph node syndrome [MCLS]","Acute febrile neutrophilic dermatosis","Acute hepatic failure","acute hepatic porphyria","Acute idiopathic demyelinating polyneuropathy","Acute infantile encephalopathy predominantly affecting the frontal lobes","acute inflammatory demyelinating polyradiculopathy","Acute inflammatory polyneuropathy","Acute interstitial pneumonitis","Acute kernicterus","acute M4 myeloid leukaemia","acute M4 myeloid leukemia","acute monoblastic leukaemia and acute monocytic leukaemia","Acute monoblastic or monocytic leukemia","acute monocytic leukaemia (FAB M5B)","acute monocytic leukemia","acute monocytic leukemia (FAB M5B)","acute monocytic leukemia, morphology (morphologic abnormality)","acute myeloblastic leukaemia 3","Acute myeloblastic leukemia 3","Acute myelodysplasia with myelofibrosis","Acute myelofibrosis","acute myeloid leukaemia M6","Acute myeloid leukemia M6","acute myelomonocytic leukaemia","acute myelomonocytic leukaemia (FAB type M4)","acute myelomonocytic leukemia (FAB type M4)","acute myelosclerosis","Acute non-herpetic encephalitis with severe refractory status epilepticus","acute panmyelosis","acute poliomyelitis","acute respiratory coronavirus infection","Acute rheumatic fever","acute tubulointerstitial nephritis and uveitis syndrome","acute vascular leak syndrome","ACY1D","ACY2 deficiency","Acyl-CoA dehydrogenase, medium chain, deficiency of","acyl-CoA dehydrogenase, medium-chain deficiency","acyl-CoA dehydrogenase, short-chain deficiency","acyl-CoA dehydrogenase, very long-chain deficiency","ACZ-responsive congenital myotonia","ACZ-responsive myotonia","AD hyperimmunoglobulin E syndrome","AD OSMED","AD polycystic liver disease","AD-CNM","AD-HIES","AD-SPG9A","AD-SPG9B","adactylia unilateral","Adactyly of hand, unilateral","Adam syndrome","Adamantinoma of long bones","adamantinoma of long bones (morphologic abnormality)","adamantinoma, malignant","ADANE","ADCA-DN syndrome","ADCA2","ADCAII","ADCL","ADCME","ADD","Addisonian crisis","Adducted thumb-clubfoot syndrome","adducted thumbs-arthrogryposis syndrome, Dundar type","ADEAF","ADEM","adenocarcinoma - esophagus","adenocarcinoma - oesophagus","adenocarcinoma arising in anal mucosa","adenocarcinoma arising in the anal mucosa","adenocarcinoma of anal canal","adenocarcinoma of esophagus","adenocarcinoma of oesophagus","adenocarcinoma of parathyroid","adenocarcinoma of parathyroid gland","adenocarcinoma of the esophagus","Adenocarcinoma of the esophagus and the gastroesophageal junction","adenocarcinoma of the oesophagus","adenocarcinoma of the parathyroid","adenocarcinoma of the parathyroid gland","adenocarcinoma, adrenocortical, malignant","adenohypophysis inflammation","adenomas, multiple colorectal, autosomal recessive","adenomatous polyposis coli","Adenomucinosis","Adenosine deaminase 2 deficiency","adenosine deaminase deficiency","adenosine deaminase deficiency, partial, Autosomal recessive, Somatic mosaicism","adenosine deaminase deficient severe combined immunodeficiency","Adenosylcobalamin deficiency","Adenylosuccinase deficiency","Adhesive arachnoiditis","ADHR","Adie pupil","Adie syndrome","Adiposalgia","Adipose tissue rheumatism","Adipose triglyceride lipase deficiency","ADLD","ADLTE","ADMERF","ADNFLE","ADOA+","adolescent/adult onset autosomal dominant epilepsy with auditory features","ADPCLD","ADPEAF","adPEO","ADPKD","ADPLD","adrenal cortex adenocarcinoma","adrenal cortex carcinoma","adrenal cortical adenocarcinoma","adrenal cortical carcinoma","adrenal cortical carcinoma (morphologic abnormality)","Adrenal crisis","adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency","adrenal hypoplasia congenita","adrenal hypoplasia, congenital, X-linked recessive","adrenal insufficiency, congenital, with 46,XY SEX reversal, partial or complete","adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete","Adrenal insufficiency-achalasia-alacrima syndrome","adrenocortical carcinoma (disease)","Adrenocortical crisis","adrenocorticotropic hormone deficiency","Adrenocorticotropic hormone secretion syndrome","adrenoleukodystrophy","adrenoleukodystrophy, X-linked","adrenoleukodystrophy, X-linked recessive","adrenomyeloneuropathy, adult","adrenomyeloneuropathy, adult, X-linked recessive","ADSD","ADSSL1 distal myopathy","ADSSL1-related distal myopathy","ADT1P","Adult ARDS","Adult basal ganglia disease","Adult chronic idiopathic neutropenia","Adult dermatomyositis","adult malignant fibrous histiocytoma","Adult phospholipase A2-associated neurodegeneration","Adult PLAN","adult premature aging syndrome","Adult progeria","adult respiratory distress syndrome","adult respiratory distress syndrome, ARDS","adult unclassified pleomorphic sarcoma","adult undifferentiated pleomorphic sarcoma","Adult-onset autosomal dominant demyelinating leukodystrophy","Adult-onset citrin deficiency","Adult-onset citrullinemia type 2","Adult-onset citrullinemia type II","Adult-onset CPEO with mitochondrial myopathy","Adult-onset dystonia-parkinsonism","Adult-onset foveomacular dystrophy","Adult-onset foveomacular dystrophy with choroidal neovascularization","Adult-onset overlap myositis","Adult-onset PLS","Adult-onset primary lateral sclerosis","adult-onset type 2 citrullinemia","adult-onset type II citrullinemia","Adult-onset vitelliform macular dystrophy","advanced malignant mesothelioma of peritoneum","advanced malignant mesothelioma of the peritoneum","advanced peritoneal malignant mesothelioma","Adynamia episodica hereditaria","adynamia episodica hereditaria with or without myotonia","AEC syndrome","aEDS","AEL","AERRPS","AESD","AEXS","AEZ","AFAP","AFLH","AFND","AFP","Africam sleeping sickness","African iron overload","African tick typhus","Aganglionic megacolon","AGAT deficiency","Agenesis of corpus callosum with chorioretinal abnormality","agenesis of pulmonary artery","agenesis of the corpus callosum with peripheral neuropathy","AGEP","Aggressive fibromatosis","aggressive systemic mastocytosis (morphologic abnormality)","Aglossia-adactylia syndrome","agnathia-otocephaly complex","Agnogenic myeloid metaplasia","Agramatic variant of PPA","Agramatic variant of primary progressive aphasia","AHC","AHD","AHDS","Ahn-Lerman-Sagie syndrome","AHO-PHP syndrome Ia","AHO-PPHP syndrome","AHS","aHUS","AI1G","AIC","AICAR transformylase/IMP cyclohydrolase deficiency","Aicardi syndrome, X-linked dominant","AIDP","AIED","AIEF","AIGFS","AIH","AINM","AIP","Airway infantile haemangioma","AISA","AKE","AKV of Hopf","Al Awadi-Farag-Teebi syndrome","Al Awadi-Raas-Rothschild syndrome","Al Gazali-Aziz-Salem syndrome","Al Gazali-Nair syndrome","Alagille-Watson syndrome","Aland island eye disease","albinism, oculocutaneous, type II, modifier of","albinism-deafness of Tietz","Albinism-hearing loss syndrome","Albright hereditary osteodystrophy","Albright hereditary osteodystrophy type 3","Albright hereditary osteodystrophy with multiple hormone resistance","Albright hereditary osteodystrophy-like syndrome","Albright hereditary osteodystrophy-PHP syndrome Ia","Albright hereditary osteodystrophy-PPHP syndrome","Albright's disease","alcaptonuria","Alcock syndrome","Alcohol-related birth defects","Alcohol-related neurodevelopmental disorder","Alcohol-responsive dystonia","ALD","aldosterone producing adrenal cortex adenoma","aldosterone producing adrenal cortical adenoma","aldosterone-secreting adenoma with seizures and neurological abnormalities","aldosteronism, glucocorticoid-remediable","Aldred syndrome","ALE","Alfi syndrome","Algodystrophy","Algoneurodystrophy","ALLAN-Herndon syndrome","allergic angiitides","allergic angiitides, granulomatous","allergic angiitis","allergic angiitis and granulomatosis","allergic angiitis, granulomatous","Allergic aspergillosis","allergic granulomatoses","allergic granulomatosis","allergic granulomatous and angiitis","allergic granulomatous Angiitides","allergic granulomatous angiitis","allergic purpura","Allgrove syndrome","alligator skin","Alloimmune neonatal renal disease","ALMS","alopecia immunodeficiency","alopecia universalis congenita","Alopecia-anosmia-conductive hearing loss-hypogonadism syndrome","Alopecia-anosmia-deafness-hypogonadism syndrome","Alopecia-progressive neurological defect-endocrinopathy syndrome","Alper syndrome","Alper's disease","Alpers Disease","Alpers Huttenlocher disease","Alpers progressive infantile poliodystrophy","Alpers progressive sclerosing poliodystrophy","Alpers syndrome","Alpers-Huttenlocher","Alpha methylacetoacetic aciduria","Alpha storage pool deficiency","Alpha Thalassemia X-linked Intellectual Disability Syndrome","Alpha thalassemia X-linked mental retardation syndrome","Alpha thalassemia-intellectual disability syndrome","Alpha thalassemia-intellectual disability syndrome, deletion type","Alpha thalassemia-mental retardation syndrome","Alpha thalassemia/intellectual disability syndrome X-linked","Alpha thalassemia/mental retardation syndrome X-linked","Alpha-1,4-glucosidase acid deficiency","Alpha-1-proteinase inhibitor deficiency","alpha-2-plasmin inhibitor deficiency","Alpha-aminoadipic aciduria","alpha-aminoadipic and alpha-ketoadipic aciduria","Alpha-B crystallin-related late-onset distal myopathy","alpha-B crystallinopathy","alpha-cell hyperplasia with glucagonemia","Alpha-dystroglycan-related LGMD R16","Alpha-galactosidase A deficiency","Alpha-ketoglutarate dehydrogenase deficiency","Alpha-L-fucosidase deficiency","Alpha-L-iduronidase deficiency","Alpha-methyl-acetoacetyl-CoA thiolase deficiency","Alpha-methyl-acyl-CoA racemase deficiency","alpha-N-acetylgalactosaminidase activity disease","Alpha-sarcoglycan-related LGMD R3","Alpha-sarcoglycanopathy","Alpha-thalassemia hydrops fetalis","Alpha-thalassemia major","alpha-thalassemia myelodysplasia syndrome, somatic","Alpha-thalassemia-intellectual disability syndrome linked to chromosome type 16","alpha-thalassemia/intellectual disability syndrome nondeletion type","alpha-thalassemia/intellectual disability syndrome, type 1","alpha-thalassemia/mental retardation syndrome, deletion-type","alpha-thalassemia/mental retardation syndrome, X-linked dominant","Alpha1-antitrypsin deficiency","Alport deafness-nephropathy","Alport hearing loss-nephropathy","ALPS","ALPS (autoimmune lymphoproliferative syndrome)","ALPS type 5","ALPS type V","ALS","ALS 4","ALS4","ALSS","alveolar capillary dysplasia","Alveolar capillary dysplasia with misalignment of pulmonary veins","Alveolar capillary dysplasia with misalignment of pulmonary vessels","Alveolar cleft lip and palate","Alymphoid cystic thymic dysgenesis","Amaurosis congenita of Leber","AMCN","amelogenesis imperfecta and gingival fibromatosis syndrome","amelogenesis imperfecta, type IG (enamel-renal syndrome)","amelogenesis imperfecta-gingival hyperplasia syndrome","Amelogenesis imperfecta-nephrocalcinosis syndrome","Ameloonychohypohidrotic ectodermal dysplasia","Ameloonychohypohidrotic syndrome","Aminoaciduria, Hartnup type","Aminoacylase 2 deficiency","Aminopterin embryopathy syndrome","Aminopterin syndrome-like sine aminopterin","AML M3","AML M4","AML M5","AML M6","AML with t(15;17)(q22;q12)","AMM","AMME complex","AMME syndrome","AMML","AMMoL","amniotic band constriction","Amniotic band sequence","amniotic bands","amniotic deformity-adhesion-mutilation syndrome","AMOXAD","AMP deaminase deficiency","Ampola syndrome","Ampulla cardiomyopathy","AMS","Amylo-1,6-glucosidase deficiency","Amyloid lichen","amyloid neuropathies, familial","amyloidosis, 3 or more types","amyloidosis, familial renal","amyloidosis, MERETOJA type","Amyloidosis, Ostertag type","amyloidosis, renal","Amylopectinosis","amyotrophic lateral sclerosis 4, juvenile","anaemia sideroblastic and spinocerebellar ataxia","anaesthesia related hyperthermia","anal canal adenocarcinoma","anal canal adenocarcinoma (disease)","anal canal NET","anal canal neuroendocrine tumor","anal canal neuroendocrine tumour","anal canal squamous cell carcinoma","anal canal well differentiated tumor","anal canal well differentiated tumor/carcinoma","anal canal well differentiated tumour","anal NET","anal Neuroendocrine tumor","anal Neuroendocrine tumour","Analphalipoproteinemia","Anaphylactoid purpura","anaplastic carcinoma of the thyroid","anaplastic carcinoma of the thyroid gland","anaplastic carcinoma of thyroid","anaplastic carcinoma of thyroid gland","anaplastic thyroid cancer","anaplastic thyroid gland carcinoma","Andermann syndrome","Andersen cardiodysrhythmic periodic paralysis","Andersen disease","Andersen Disease (GSD IV)","Andersen syndrome","Anderson disease","Anderson-Fabry disease","androgen insensitivity, partial","androgen insensitivity, partial, with or without breast cancer","anemia, congenital, nonspherocytic hemolytic, 2, pyruvate kinase deficient","anemia, congenital, nonspherocytic hemolytic, 7","anemia, hemolytic, Rh-null, regulator type","anemia, hypochromic microcytic, with iron overload type 2","anemia, sideroblastic, 1, X-linked recessive","anemia, sideroblastic, with ataxia, X-linked recessive","anencephaly 1","aneurysm, intracranial berry","angiitides, allergic","angiitides, allergic granulomatous","angiitides, granulomatous allergic","angiitis, allergic","angiitis, allergic granulomatous","angiitis, granulomatous allergic","angioblastoma","angioblastoma of Nakagawa","angioedema, hereditary, 1 and 2","angioedema, hereditary, type 1/2","Angiofollicular ganglionic hyperplasia","Angiofollicular lymph hyperplasia","angiofollicular lymph node hyperplasia","angiofollicular lymphoid hyperplasia","angiokeratoma corporis diffusum","angioma pigmentosum atrophicum","angioosteohypertrophy syndrome","angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps","anhidrotic ectodermal dysplasia","anhidrotic ectodermal dysplasia 1","anhidrotic ectodermal dysplasia 3","anhidrotic ectodermal dysplasia with immune deficiency","anhidrotic ectodermal dysplasia with immunodeficiency","Aniridia Cerebellar Ataxia Mental Deficiency","aniridia, cerebellar ataxia and mental deficiency","aniridia, cerebellar ataxia, and intellectual disability","aniridia, cerebellar ataxia, and mental retardation","ankylosing vertebral hyperostosis","ankylosis (disease) of calcareous tooth","Ankylosis of teeth","ankylosis of tooth","ANM","Annuloaortic ectasia","ano-cerebro-digital syndrome","ANOAC","Anoctamin-5-related LGMD R12","ANOP1, formerly","anophthalmia megalocornea cardiopathy skeletal anomalies","Anophthalmia-pulmonary hypoplasia syndrome","Anophthalmia-syndactyly syndrome","ANOTHER syndrome","Antenatal CMV infection","Antenatal cytomegalovirus infection","Antenatal enterovirus infection","Antenatal herpes simplex virus infection","Antenatal varicella virus infection","Anterior bowing of legs with dwarfism","Anterior limiting membrane dystrophy type 2","Anterior limiting membrane dystrophy type II","Anterior pituitary hypophysitis","anterior segment dysgenesis 2, multiple subtypes","anterior segment dysgenesis 5, multiple subtypes","Anti-aminoacyl-tRNA synthetase syndrome","Anti-ARS syndrome","Anti-C1q vasculitis","Anti-GBM syndrome","anti-HMG-CoA myopathy","Anti-Jo1 syndrome","anti-NMDA receptor encephalitis","anti-SRP myopathy","Antinolo-Nieto-Borrego syndrome","Antiphospholipid antibody syndrome","Antiquitin deficiency","antisocial behavior, X-linked recessive","antithrombin 3 deficiency","Antithrombin Deficiency","antithrombin III deficiency","ANTOPOL disease","AO1","AO2","AO3","AOA1","AOA2","AOA4","AOFMD","AOI","AOII","AOIII","Aorta coarctation","Aortic aneurysm syndrome due to TGF-beta receptors anomalies","aortic arch arteritis","aortic arch syndrome","aortic coarctation","aorto-ventricular tunnel (disease)","AOS","AOSD","AP-4 associated hereditary spastic paraplegia","AP-4 deficiency syndrome","AP4 deficiency syndrome","APA with seizures and neurological abnormalities","APAC","aPAP","APDS type 1","APDS type 2","APDS1","APDS2","APE","APECED syndrome","aphakia, congenital primary","Aphalangia, partial, with syndactyly and Duplication of metatarsal type 4","Aphallia","Aphallus","Apical ballooning syndrome","APL","aplasia cutis congenita (disease)","aplasia cutis congenita recessive","Aplasia cutis congenita with distal limb anomalies","Aplasia cutis congenita with terminal transverse limb defects","Aplasia cutis congenita-epibulbar dermoids syndrome","aplasia cutis myopia","Aplasia of pulmonary artery","Aplasia of tibia with split-hand/split-foot deformity","Aplasia/hypoplasia of limbs and pelvis","APLD","APLS","APMF","APML","APML - acute promyelocytic leukaemia","APML - acute promyelocytic leukemia","ApoA-I deficiency","Apolipoprotein A-I binding protein deficiency","Apolipoprotein A-IV amyloidosis","apparent mineralocorticoid excess syndrome","Appelt-Gerken-Lenz syndrome","Appendiceal NEN","Appendiceal neuroendocrine neoplasm","appendiceal neuroendocrine tumor","appendiceal neuroendocrine tumour","appendix NET","appendix neuroendocrine tumor","appendix neuroendocrine tumour","appendix well differentiated endocrine tumor","appendix well differentiated endocrine tumor/carcinoma","appendix well differentiated endocrine tumour","apple peel syndrome","apraxia, oculomotor, with congenital contractures and muscle atrophy","APS type 1","APS type 2","APS type 3","APS type 4","APS1","APS2","APS3","APS4","Aquagenic keratoderma","Aquagenic syringeal acrokeratoderma","Aquagenic wrinkling of the palms","AR inherited pseudoxanthoma elasticum","AR-CMT2B1","AR-CNM","AR-PKD","AR-SPG9B","Arachnocytosis of the myocardium","arachnoid mater inflammation","ARAN-NM","ARBD","Arboleda-Tham syndrome","ARC syndrome","ARCA1","ARCA2","ARCI4B","ARCL1","ARCL2A","ARCMT2-NM","ARCMT2K","Areolar atrophy of the macula","ARF","Arginase 1 deficiency","Arginase deficiency","arginine:glycine amidinotransferase deficiency","Argininosuccinase deficiency","Argininosuccinate synthase deficiency","Argininosuccinate synthetase deficiency","Argininosuccinatelyase deficiency","Argininosuccinic acid lyase deficiency","Argininosuccinic acid synthase deficiency","Argininosuccinic acid synthetase deficiency","ARHR","Arkless-Graham syndrome","Armfield syndrome","Armfield X-linked intellectual disability syndrome","Armfield X-linked mental retardation syndrome","ARND","Arndt-Gottron disease","Arnold-Chiari malformation type 1","arPEO","ARPKD","arrhythmogenic cardiomyopathy with wooly hair and keratoderma","ARS","ARSACS","ARSAL","ARSE X-linked chondrodysplasia punctata","Arterial-ecchymotic EDS","Arteriohepatic dysplasia","arteriovenous malformation of the brain, somatic","arteriovenous malformations of the brain","Arteritis, Takayasu","arthritis urethritica","Arthrochalasia EDS","Arthrochalasis multiplex congenita","arthrocutaneouveal granulomatosis","Arthrodentoosteodysplasia","arthrogryposis multiplex congenita distal type 1","Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome","arthrogryposis, distal, type 2A (Freeman-Sheldon)","arthrogryposis, distal, type 2B","arthrogryposis, impaired intellectual development, and seizures","arthrogryposis, renal dysfunction, and cholestasis","Arthrogryposis-like hand anomaly-sensorineural hearing loss syndrome","Arthrogryposis-like syndrome","Arthropathy-camptodactyly syndrome","ARTS","Arts syndrome","Arts syndrome, X-linked recessive","Arylsulfatase A deficiency","Arylsulfatase B deficiency","AS syndrome","ASA deficiency","Asadollahi-Rauch syndrome","ASAT","ASB deficiency","asbestos dust pneumoconiosis","asbestos pneumoconiosis","Asbestosis","ASCT1 deficiency","ASD","ASD with or without atrioventricular conduction defects","Aseptic abscesses syndrome","aseptic Necrosis of femoral head","aseptic Necrosis of head of femur","Aseptic necrosis of patella","Aseptic necrosis of phalangeal epiphyses","Aseptic necrosis of the capital femoral epiphysis","Aseptic necrosis of the capital humerus","Aseptic necrosis of the lunate bone","Aseptic necrosis of the tarsal bone","Aseptic necrosis of the tibial tubercle","Aseptic systemic abscesses","Asidan","ASM","Aspartoacylase deficiency","Aspartylglucosaminidase deficiency","Aspartylglycosaminuria","ASPED","Asphyxiating Thoracic Dystrophy","asphyxiating thoracic dystrophy 3","Asphyxiating thoracic dystrophy of the newborn","asphyxiating thoracic dystrophy type 3","Asrar Facharzt Haque syndrome","ASRAS","ASS","ASS deficiency","ASSA","ASyS","AT V1","AT/RT","AT3D","ataxia telangiectasia syndrome","Ataxia with isolated vitamin E deficiency","Ataxia with lactic acidosis type 2","Ataxia with lactic acidosis type II","ataxia with oculomotor apraxia type 2","Ataxia with pigmentary retinopathy","ataxia, cerebellar, Cayman type","ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia","ataxia, episodic, with myokymia","ataxia, posterior column, with retinitis pigmentosa","Ataxia-diabetes-goiter-gonadal insufficiency syndrome","Ataxia-hearing loss-intellectual disability syndrome","ataxia-ocular apraxia 2","ataxia-oculomotor apraxia 2","Ataxia-oculomotor apraxia type 2","Ataxia-telangiectasia, variant 1","ataxia-telangiectasia-like disorder 1","ataxia-telangiectasia-like disorder 2","ataxia-telangiectasia-like disorder type 2","Ataxie spinocérébelleuse à début infantile avec retard psychomoteur","Ataxo-opso-myoclonus syndrome","ATCS","ATD3","Atelosteogenesis type 1","Atelosteogenesis type 2","Atelosteogenesis type 3","Atherosclerosis-hearing loss-diabetes-epilepsy-nephropathy syndrome","Athyroidal hypothyroidism-spiky hair-cleft palate syndrome","ATLD","ATMDS","ATP-binding cassette transporter A1 deficiency","ATR syndrome linked to chromosome 16","ATR syndrome, deletion type","ATR, nondeletion type","ATR-16 syndrome","ATR-X syndrome","atransferrinemia","atresia of bile ducts","atresia of colon","atresia of duodenum","atresia of nares","Atresia of small bowel","Atresia of small intestine","atresia of the small intestine","atresia of urethra (disease)","atrial cardiomyopathy with heart block","atrial heart septal defect caused by mutation in NKX2-5","atrial heart septal defect type 7","atrial myxoma with lentigines","Atrial septal defect","Atrial Septal Defects","atrial septum defect","atrichia, generalised","atrichia, generalized","Atriodigital dysplasia type 1","Atriodigital dysplasia type 2","Atriodigital dysplasia, Slovenian type","Atrophia bulborum hereditaria","atrophoderma pigmentosum","ATRT","ATRUS syndrome","ATS","ATS-MR","ATT/RHT","attenuated adenomatous polyposis coli","Attenuated familial polyposis coli","Attenuated FAP","attenuated MPS (subtype; formerly known as mild MPS II)","ATTRv amyloidosis","ATTRwt amyloidosis","ATTRwt-related amyloidosis","ATXPC syndrome","Atypical Chédiak-Higashi syndrome","Atypical facial pain","Atypical HUS","Atypical parkinsonism in the Caribbean","Atypical progeroid syndrome","Atypical RTT","atypical teratoid/rhabdoid tumor (morphologic abnormality)","atypical teratoid/rhabdoid tumor (WHO grade IV)","atypical teratoid/rhabdoid tumour (morphologic abnormality)","atypical teratoid/rhabdoid tumour (WHO grade IV)","Atypical X-linked achromatopsia","Atypical/leaky SCID due to partial RAG defect","Au-Kline syndrome","Aural atresia-multiple congenital anomalies-intellectual disability syndrome","auricular septal defect","auriculo-condylar syndrome","Austin disease","autism susceptibility 14A","autism susceptibility 4","Autoimmune Addison disease","Autoimmune adrenalitis","Autoimmune enteropathy type 1","autoimmune hemolytic anaemia and autoimmune thrombocytopenia","Autoimmune hemolytic anemia and autoimmune thrombocytopenia","autoimmune hypoparathyroidism (disease)","Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome","autoimmune lymphoproliferative syndrome type 5","autoimmune lymphoproliferative syndrome type V","Autoimmune myasthenia gravis","Autoimmune necrotizing myositis","Autoimmune PAP","Autoimmune polyendocrine syndrome type 1","Autoimmune polyendocrine syndrome type 2","Autoimmune polyendocrine syndrome type 3","Autoimmune polyendocrine syndrome type 4","Autoimmune Polyendocrine Syndrome Type II","autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy","Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome","Autoimmune polyglandular syndrome type 1","Autoimmune polyglandular syndrome type 2","Autoimmune polyglandular syndrome type 3","Autoimmune polyglandular syndrome type 4","autoimmune thrombocytopenic purpura","Autoimmune thyroid disease and/or type 1 diabetes-Addison disease syndrome","autoimmunity-immunodeficiency syndrome, X-linked","autonomic control, congenital failure of","Autosomal congenital ichthyosis, Harlequin type","Autosomal dominant adult-onset proximal SMA","Autosomal dominant benign distal spinal muscular atrophy","Autosomal dominant beta-thalassemia","Autosomal dominant beta2-microglobulinic amyloidosis","autosomal dominant café au lait spots","autosomal dominant cerebellar ataxia type 2","autosomal dominant cerebellar ataxia type II","autosomal dominant cerebellar ataxia, deafness and narcolepsy","Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome","Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation","Autosomal dominant cortical myoclonus and epilepsy","Autosomal dominant epilepsy with auditory features","Autosomal dominant generalized EBS, intermediate form","Autosomal dominant generalized EBS, severe form","Autosomal dominant gingival fibromatosis","Autosomal dominant gingival hyperplasia","Autosomal dominant hearing loss-onychodystrophy syndrome","autosomal dominant hereditary hypophosphatemic rickets","autosomal dominant HIES","autosomal dominant hyper IgE syndrome","autosomal dominant hyperimmunoglobulin E syndrome","Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency","Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency","Autosomal dominant hypophosphatemia","autosomal dominant intellectual disability 17","autosomal dominant intellectual disability 18","autosomal dominant intellectual disability 19","autosomal dominant intellectual disability 25","autosomal dominant intellectual disability 28","autosomal dominant intellectual disability 32","autosomal dominant intellectual disability 37","autosomal dominant intellectual disability 44","autosomal dominant intellectual disability 7","Autosomal dominant late-onset Parkinson disease","Autosomal dominant late-onset retinal degeneration","Autosomal dominant late-onset spinal muscular atrophy, Finkel type","Autosomal dominant lateral temporal lobe epilepsy","autosomal dominant limb-girdle muscular dystrophy type 1A","Autosomal dominant limb-girdle muscular dystrophy type 1D","Autosomal dominant nocturnal frontal lobe epilepsy","Autosomal dominant optic atrophy type 3","Autosomal dominant optic atrophy, Kjer type","autosomal dominant osteopetrosis type 2","Autosomal dominant osteosclerosis, Stanescu type","Autosomal dominant osteosclerosis, Worth type","Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia","autosomal dominant partial/lateral temporal epilepsy with auditory features","Autosomal dominant polycystic liver disease","Autosomal dominant Segawa syndrome","Autosomal dominant sleep-related hypermotor epilepsy","Autosomal dominant spastic ataxia type 7","Autosomal dominant spastic paraplegia type 3A","Autosomal dominant spondylocostal dysplasia","autosomal dominant striatonigral degeneration","autosomal recessive aplasia cutis","Autosomal recessive ataxia due to coenzyme Q10 deficiency","Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K","Autosomal recessive axonal CMT due to copper metabolism defect","Autosomal recessive axonal CMT4C1","Autosomal recessive axonal CMT4C4","Autosomal recessive cerebellar ataxia type 1","Autosomal recessive cerebellar ataxia type 2","autosomal recessive cerebellar ataxia-cognitive defect syndrome","Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia","Autosomal recessive Charcot-Marie-Tooth disease type 2B1","Autosomal recessive CHED","Autosomal recessive childhood-onset dystonia, DYT29 type","Autosomal recessive complex SPG due to Kennedy pathway dysfunction","Autosomal recessive congenital hereditary endothelial dystrophy","autosomal recessive congenital ichthyosis 11","autosomal recessive congenital ichthyosis type 11","autosomal recessive congenital ichthyosis type 4B","Autosomal recessive cutis laxa with severe systemic involvement","Autosomal recessive cutis laxa, pulmonary emphysema type","Autosomal recessive deafness-onychodystrophy syndrome","Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis","Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis","autosomal recessive dystrophic epidermolysis bullosa, generalised other","autosomal recessive dystrophic epidermolysis bullosa, generalized other","Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type","Autosomal recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type","autosomal recessive early-onset Parkinson disease type 15","Autosomal recessive generalized EBS","Autosomal recessive hearing loss-onychodystrophy syndrome","autosomal recessive hereditary hypophosphatemic rickets","Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency","Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia","Autosomal recessive intermediate osteopetrosis","autosomal recessive limb-girdle muscular dystrophy caused by mutation in ISPD","Autosomal recessive limb-girdle muscular dystrophy type 2A","Autosomal recessive limb-girdle muscular dystrophy type 2B","Autosomal recessive limb-girdle muscular dystrophy type 2C","Autosomal recessive limb-girdle muscular dystrophy type 2D","Autosomal recessive limb-girdle muscular dystrophy type 2E","Autosomal recessive limb-girdle muscular dystrophy type 2F","Autosomal recessive limb-girdle muscular dystrophy type 2H","Autosomal recessive limb-girdle muscular dystrophy type 2I","Autosomal recessive limb-girdle muscular dystrophy type 2K","Autosomal recessive limb-girdle muscular dystrophy type 2L","Autosomal recessive limb-girdle muscular dystrophy type 2N","Autosomal recessive limb-girdle muscular dystrophy type 2P","Autosomal recessive limb-girdle muscular dystrophy type 2Q","autosomal recessive limb-girdle muscular dystrophy type 2R","Autosomal recessive limb-girdle muscular dystrophy type 2S","Autosomal recessive limb-girdle muscular dystrophy type 2T","Autosomal recessive limb-girdle muscular dystrophy type 2U","Autosomal recessive metaphyseal chondrodysplasia","Autosomal recessive multiple epiphyseal dysplasia","Autosomal recessive myogenic AMC","Autosomal recessive non-lethal multiple pterygium syndrome","Autosomal recessive optic atrophy plus syndrome","Autosomal recessive optic atrophy type 3","autosomal recessive osteopetrosis","autosomal recessive osteopetrosis (disease)","autosomal recessive osteopetrosis type 3","autosomal recessive osteopetrosis type 6","Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia","autosomal recessive Parkinson disease type 14","autosomal recessive polycystic kidney","Autosomal recessive popliteal pterygium syndrome","Autosomal recessive posterior column ataxia and retinitis pigmentosa","Autosomal recessive Segawa syndrome","Autosomal recessive sensory radicular neuropathy","Autosomal recessive sepiapterin reductase-deficient DRD","autosomal recessive spastic ataxia type 2","Autosomal recessive spastic ataxia type 3","Autosomal recessive spastic ataxia type 4","Autosomal recessive spastic ataxia type 5","Autosomal recessive spastic ataxia type 6","autosomal recessive spastic paraplegia 18","Autosomal recessive spastic paraplegia type 15","autosomal recessive spastic paraplegia type 18","Autosomal recessive spastic paraplegia type 49","Autosomal recessive spastic paraplegia type 65","Autosomal recessive spastic paraplegia type 81","Autosomal recessive spastic paraplegia-disc herniation syndrome","autosomal recessive spinocerebellar ataxia 11","autosomal recessive spinocerebellar ataxia 12","autosomal recessive spinocerebellar ataxia 16","Autosomal recessive spinocerebellar ataxia type 10","Autosomal recessive spinocerebellar ataxia type 11","Autosomal recessive spinocerebellar ataxia type 12","Autosomal recessive spinocerebellar ataxia type 14","Autosomal recessive spinocerebellar ataxia type 15","autosomal recessive spinocerebellar ataxia type 16","autosomal recessive spinocerebellar ataxia type 17","Autosomal recessive spinocerebellar ataxia type 2","Autosomal recessive spinocerebellar ataxia type 20","Autosomal recessive spinocerebellar ataxia type 21","Autosomal recessive spinocerebellar ataxia type 3","Autosomal recessive spinocerebellar ataxia type 6","Autosomal recessive spinocerebellar ataxia type 7","Autosomal recessive spinocerebellar ataxia type 9","Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome","Autosomal recessive thrombophilia due to congenital protein C deficiency","Autosomal recessive thrombophilia due to congenital protein S deficiency","Autosomal recessive thrombophilia due to PC deficiency","autosomal recessive torsion dystonia 2","Autosomal spastic ataxia type 2","Avascular necrosis of the metatarsal bone","Avascular necrosis of the tarsal bone","AVED","Avellino corneal dystrophy","AVLS","AVMD","AxD","Axenfeld syndrome","Axenfeldt-Rieger syndrome","Axial osteosclerosis","axonal motor sensory neuropathy with deafness and intellectual disability","Axonal neuropathy-optic atrophy-cognitive deficit syndrome","Ayazi syndrome","AZOOR","Azoospermia-sinopulmonary infections syndrome","Azorean disease of the nervous system","B-K mole syndrome","Babesia caused disease or disorder","Babesia disease or disorder","Babesia infectious disease","babesiasis","Bachmann-Bupp syndrome","Bacterial TSS","Bader syndrome","BADI","BAFME","BAGOS","Bahemuka-Brown syndrome","Bailey-Bloch congenital myopathy","Bainbridge-Roppers syndrome","Baird syndrome","Baker-Gordon syndrome","Bakrania-Ragge syndrome","Bakwin-Krida syndrome","Balikova-Vermeesch syndrome","Ballooning cardiomyopathy","Bamboo hair syndrome","Bamforth syndrome","Band like calcification with simplified gyration and polymicrogyria","Bantu siderosis","Baraitser-Brett-Piesowicz syndrome","Baraitser-Burn syndrome","Baraitser-Reardon syndrome","Baraitser-Winter syndrome","Barakat syndrome","Bare lymphocyte syndrome type 2","Barraquer-Simons syndrome","Bart-Pumphrey syndrome","Barth syndrome, X-linked recessive","Bartonellosis due to Bartonella henselae infection","Bartter disease","BAS defect type 4","Basal cell nevus syndrome","basal ganglia calcification","basal ganglia degeneration with calcification","Basan-Baird syndrome","BASD1","BASD2","BASD3","BASD4","Basel-Vanagait-Smirin-Yosef syndrome","Basel-Vanagaite-Sirota syndrome","Bassen-Kornzweig disease","Bassoe syndrome","bathing trunk nevus","Battaglia-Neri syndrome","Baughman syndrome","Bazex syndrome, X-linked dominant","BBIS","BBS","BBSOAS","BCD","BCD syndrome","BCECTS","BCIE","BCKD deficiency","BCKDH deficiency","BCS","BDA1","BDA2","BDA4","BDCS","BDMR","BDPLT4","BDPLT7","Beals syndrome","Beals-Hecht syndrome","Bean syndrome","Beare-Stevenson cutis gyrata syndrome","Beaulieu-Boycott-Innes syndrome","Bechet syndrome","Becker dystrophinopathy","Becker melanosis","Becker muscular dystrophy, X-linked recessive","Becker naevus syndrome","BECRS","BECTS","Bedouin spastic ataxia syndrome","BEEC","Behcet syndrome","Behçet-Adamantiades syndrome","Benign adult familial myoclonus epilepsy","benign autosomal dominant myopathy","benign childhood epilepsy with centrotemporal spikes","Benign chronic familial pemphigus","benign chronic familial pemphigus of Hailey-Hailey","benign chronic pemphigus","Benign COX deficiency","benign ependymoma","Benign epilepsy of childhood with centrotemporal spikes","benign epilepsy with centrotemporal spikes","benign familal neonatal seizures","Benign familial chorea","benign familial convulsion","benign familial convulsions","Benign familial epilepsy of childhood with rolandic spikes","Benign familial infantile convulsions","Benign familial infantile epilepsy","Benign familial infantile seizures","Benign familial neonatal convulsions","Benign familial neonatal epilepsy","Benign familial neonatal seizures","Benign familial neonatal-infantile seizures","Benign focal amyotrophy","Benign hyperferritinemia","benign intracran. hypt.","Benign intracranial hypertension","benign lymphoreticulosis","benign mucous Membrane pemphigoid","Benign multicystic peritoneal mesothelioma","Benign myoclonic epilepsy of infancy","Benign myoclonus epilepsy of infancy","Benign neonatal-infantile epilepsy","benign neurilemmoma","Benign paroxysmal peritonitis","benign pinealoma","Benign recurrent polyserositis","Benign rolandic epilepsy","benign Rolandic epilepsy (BRE)","benign Rolandic epilepsy of childhood (BREC)","Bennion-Patterson syndrome","Benson syndrome","Beradinelli-Seip syndrome","Berant syndrome","Berardinelli lipodystrophy syndrome","Berardinelli-Seip congenital lipodystrophy","Berardinelli-Seip syndrome","Berdon syndrome","Berger disease","Berlin breakage syndrome","Berlin syndrome","Berylliosis","Besnier-Boeck-Schaumann disease","besnier-Boeck-Schaumann syndrome","Bessel-Hagen disease","Best disease","Best macular dystrophy","beta cell neoplasm","Beta cell tumor","Beta cell tumor of pancreas","Beta cell tumor of the pancreas","Beta cell tumour","Beta cell tumour of pancreas","Beta cell tumour of the pancreas","Beta transfusion dependent thalassemia","Beta-1,4-galactosyltransferase deficiency","Beta-alanine synthase deficiency","Beta-galactosidase-1 deficiency","Beta-glucuronidase deficiency","Beta-hexosaminidase subunit alpha deficiency","Beta-mannosidase deficiency","Beta-NTDT","Beta-sarcoglycan-related LGMD R4","Beta-sarcoglycanopathy","Beta-TDT","Bethlem myopathy","Bethlem myopathy 2","Bethlem myopathy type 1","Bethlem myopathy type 2","Beukes familial hip dysplasia","BFHD","BFIE","BFIS","BFIS3","BFLS","BFNIS","BFNS","BHC","BHFS","BHMED","Biber-Haab-Dimmer dystrophy","Bickel-Fanconi glycogenosis","BID","bidirectional tachycardia induced by catecholamine","Bidirectional ventricular tachycardia induced by catecholamine","Bietti crystalline corneoretinal dystrophy","Bietti crystalline retinopathy","Bifid femur-monodactylous ectrodactyly syndrome","Bifid nose with or without anorectal and renal anomalies","Bifidity of the uvula","BIID","bilateral acoustic neurofibromatosis","Bilateral anorchia","Bilateral anterior opercular syndrome","Bilateral band-like calcification with polymicrogyria","Bilateral hereditary micro-epiphyseal dysplasia","Bilateral lambdoid and sagittal synostosis","Bilateral symmetrical thalamic gliosis","bile acid synthesis defect, congenital, type 1","bile acid synthesis defect, congenital, type 2","bile acid synthesis defect, congenital, type 3","bile acid synthesis defect, congenital, type 4","Bile duct cancer","Bilginturan brachydactyly","Bilginturan syndrome","biliary atresia, congenital","bilirubin UDP glucuronyl transferase deficiency","Bilirubin uridinediphosphate glucuronosyltransferase deficiency","Bilirubin-induced neurological dysfunction","Bilirubin-UGT deficiency","Billard-Toutain-Maheut syndrome","BIND","Binder syndrome","Bindewald-Ulmer-Müller syndrome","Biparietal Alzheimer disease","bird-headed dwarfism","Bird-headed dwarfism, Montreal type","Birdshot chorioretinitis","Birdshot retinochoroiditis","Birdshot retinochoroidopathy","BIRK-Barel intellectual disability dysmorphism syndrome","Birk-Barel Intellectual Disability-Dimorphism syndrome","BIRK-Barel mental retardation dysmorphism syndrome","Bixler-Christian-Gorlin syndrome","BKT","Blackfan-Diamond anaemia","Blackfan-Diamond anemia","Bladder exstrophy-epispadias-cloacal extrophy complex","Bladder pain syndrome","bladder small cell neuroendocrine cancer","bladder small cell neuroendocrine carcinoma","Blastogenesis defect","blastoma of lung","blastoma of the lung","BLAUS","BLC","BLC-PMG","blepharochalasis and Double type lip","Blepharochalasis-double lip syndrome","Blepharocheilodontic syndrome","Blepharophimosis syndrome, Ohdo type","blepharophimosis types 1 and 2","blepharophimosis, epicanthus inversus, and ptosis, type 1","blepharophimosis, epicanthus inversus, and ptosis, type 2","blepharophimosis, ptosis, and epicanthus inversus","blepharophimosis, ptosis, and epicanthus inversus syndrome","blepharophimosis-epicanthus inversus-ptosis syndrome","Blepharophimosis-intellectual disability syndrome type V","Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type","blepharophimosis-ptosis-intellectual disability syndrome","Blepharophimosis-telecanthus-microstomia syndrome","Bloch-Siemens syndrome","Bloch-Sulzberger syndrome","Blomstrand chondrodysplasia","Blomstrand osteochondrodysplasia","Blomstrand type chondrodysplasia","Bloom-Torre-Machacek syndrome","BLSS","Blue colour blindness","Blue cone monochromacy","blue cone monochromacy, X-linked recessive","blue rubber bleb nevus","BMD","BMRS type V","BMRS, Maat-Kievit-Brunner type","BMRS, MKB type","BMRS, Ohdo type","BMRS, Verloes type","BMS","BNHS","BOCD","Bockenheimer syndrome","BOD syndrome","boder syndrome","Body cavity-based lymphoma","Body integrity identity disorder","body mass index QTL16","Body stalk anomaly","Boeck sarcoid","Boeck's sarcoidosis","Bof syndrome","BOFS","BOFS syndrome","Bohring syndrome","Boichis disease","bone cyst","Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome","bone osteosarcoma","Bonneau syndrome","BOOP","Booth-Haworth-Dilling syndrome","BORJ","Borjeson syndrome","Borjeson-Forssman-Lehmann syndrome, X-linked recessive","Bork syndrome","Borrelia","Borrelia burgdorferi infection","Borreliella burgdorferi caused disease or disorder","Borreliella burgdorferi disease or disorder","Borreliella burgdorferi infectious disease","Borrone Dermatocardioskeletal syndrome","Borrone di Rocco Crovato syndrome","BOS syndrome","Bosch-Boonstra-Schaaf optic atrophy syndrome","Bosma arhinia-microphthalmia syndrome","Bosma-Henkin-Christiansen syndrome","botulism poisoning","Boucher-Neuhchäuser syndrome","Boucher-Neuhäuser syndrome","Bourneville disease","Bourneville syndrome","boutonneuse disease","Bowen Hutterite Syndrome","Bowen Hutterite syndrome (formerly)","Bowen syndrome, Hutterite type","Bowen-Conradi Hutterite syndrome","Boyadjiev-Jabs syndrome","BPAN","BPD","BPES","BPES plus","BPIDS","Brachial plexus neuritis","brachioskeletogenital syndrome","Brachmann-de Lange syndrome","Brachycephalofrontonasal dysplasia","Brachycephaly-deafness-cataract-intellectual disability syndrome","Brachycephaly-hearing loss-cataract-intellectual disability syndrome","brachydactyly mental retardation syndrome","Brachydactyly type E, with short stature and hypertension","Brachydactyly, Farabee type","Brachydactyly, Mohr-Wriedt type","Brachydactyly, Smorgasbord type","Brachydactyly, Temtamy type","Brachydactyly-intellectual disability syndrome","Brachydactyly-joint dysplasia syndrome","Brachydactyly-scoliosis-carpal fusion syndrome","brachydactyly-symphalangism syndrome","brachydactyly-syndactyly syndrome","Brachymesophalangy II and V","Brachyolmia type 2","Brachyolmia type 3","brachyolmia, autosomal dominant","Bradbury-Eggleston syndrome","Braddock-Jones-Superneau syndrome","Brailsford disease","brain small vessel disease with axenfeld-rieger anomaly","brain small vessel disease with haemorrhage","brain small vessel disease with hemorrhage","brain small vessel disease with or without ocular anomalies","Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome","Branched-chain 2-ketoacid dehydrogenase deficiency","Branched-chain ketoaciduria","Branchial dysplasia-intellectual disability-inguinal hernia syndrome","Branchio-Oto-renal syndrome","Branchiogenic hearing loss syndrome","branchiooculofacial syndrome","Branchiootorenal spectrum disorder","Branchiootorenal syndrome","Braun-Bayer syndrome","BRBN","BRBNS","BRE","break bone fever","BRESHECK syndrome","BRIC","Brittle bone disease","brittle cornea syndrome type 1","Broad-beta disease","Broad-betalipoproteinemia","Broken heart syndrome","Bronchial NET","Bronchiolitis obliterans organizing pneumonia","bronchogenic cyst (disease)","bronchus NET","bronchus neuroendocrine neoplasm","bronchus neuroendocrine tumor","bronchus neuroendocrine tumor, well differentiated, low or intermediate grade","bronchus neuroendocrine tumour","Bronspiegel-Zelnick syndrome","Bronze John","Bronze-Schilder disease","Brown Séquard Syndrome","Brown-Vialetto-van Laere syndrome","Brugada type idiopathic ventricular fibrillation","Brunner syndrome","Brunner syndrome, X-linked recessive","Brunner-Winter syndrome","Brunzell syndrome","BSCL","BSCR","BSG syndrome","BSI","BSPDC","BSVD","BSVD1","BSyn","BTHLM2","BTHS","Buckley syndrome","Budd-Chiari syndrome, somatic","Bull-Nixon syndrome","Bullous congenital ichthyosiform erythroderma","Bullous congenital ichthyosiform erythroderma of Brock","Bullous ichthyosis","Buphthalmia","Buphthalmos","Buphthalmus","Burkholderia pseudomallei caused disease or disorder","Burkholderia pseudomallei disease or disorder","Burkholderia pseudomallei infection","Burkholderia pseudomallei infectious disease","burkitt lymphoma, somatic","Burkitt lymphoma/leukemia","Burkitt's tumour","Burkitt's tumour or lymphoma","Burton skeletal dysplasia","Burton syndrome","Buschke-Fischer-Brauer syndrome","Buttiens-Fryns syndrome","butyryl-CoA dehydrogenase deficiency","butyrylcholinesterase deficiency","bv-FTD","BVMD","BWCNS","BWS","Börjeson-Forssman-Lehman Syndrome","C cell carcinoma","C-beta-thalassemia","C-like syndrome","C12ORF65 combined oxidative phosphorylation deficiency","Cabezas syndrome","Cabezas syndrome; syndromic X-linked intellectual disability 15","CABV syndrome","Cacchi-Ricci disease","CACD","CACP","CACP syndrome","CACT deficiency","CAD","CADASIL syndrome","CADASIL type 1","CADASIL1","cafe-au-lait spots, multiple","CAGSSS","CAH due to 11-beta-hydroxylase deficiency","CAH due to 17-alpha-hydroxylase deficiency","CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency","CAHMR syndrome","CAIS","CAKUT with or without ocular abnormalities","calcareous tooth ankylosis (disease)","Calcification of joints and arteries","calcifying Epitherlioma of Malherbe","Calcium pyrophosphate dihydrate crystal deposition disease","California disease","CALJA","Calpain-3-related LGMD R1","calpainopathy","CALs syndrome isolated","Camera syndrome","Camero-Lituania-Cohen syndrome","Camisa disease","Campomelic dwarfism","Campomelic Syndrome","camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye","camptodactyly-arthropathy-pericarditis syndrome","Camptodactyly-cleft palate-clubfoot syndrome","camptodactyly-overgrowth-unusual facies syndrome","Camptodactyly-tall stature-scoliosis-deafness syndrome","CAMRQ syndrome","CAMT","Camurati-Engelmann syndrome","Camurati-Englemann disease","CAN","Canale-Smith syndrome","Canavan-VAN Bogaert-Bertrand disease","CANDF","CANPMR","Cantalamessa-Baldini-Ambrosi syndrome","Cantrell deformity","Cantrell syndrome","Cantu craniofaciofrontodigital syndrome","CANVAS","Cap disease","Cap inflammatory polyposis","CAP syndrome","capillary hemangioblastoma","Capillary hyperpermeability syndrome","Capillary leak syndrome","capillary malformation-arteriovenous malformation 1","capillary malformations, congenital, 1, somatic, mosaic","CAPOS syndrome","Capra-DeMarco syndrome","CAPS","CAR syndrome","CARASIL","carbamoyl phosphate synthetase I deficiency disease","carbamoyl-phosphate synthase deficiency disease","Carbamoyl-phosphate synthetase deficiency","Carbamoyl-phosphate synthetase I deficiency","carbamoylphosphate synthetase I deficiency","carbohydrate deficient glycoprotein syndrome type 1L","Carbohydrate deficient glycoprotein syndrome type Ia","Carbohydrate deficient glycoprotein syndrome type Ib","Carbohydrate deficient glycoprotein syndrome type Ic","Carbohydrate deficient glycoprotein syndrome type Id","Carbohydrate deficient glycoprotein syndrome type Ie","Carbohydrate deficient glycoprotein syndrome type If","Carbohydrate deficient glycoprotein syndrome type Ig","Carbohydrate deficient glycoprotein syndrome type Ih","Carbohydrate deficient glycoprotein syndrome type Ii","Carbohydrate deficient glycoprotein syndrome type IIa","Carbohydrate deficient glycoprotein syndrome type IIb","Carbohydrate deficient glycoprotein syndrome type IId","Carbohydrate deficient glycoprotein syndrome type IIe","Carbohydrate deficient glycoprotein syndrome type IIf","Carbohydrate deficient glycoprotein syndrome type IIg","Carbohydrate deficient glycoprotein syndrome type IIh","Carbohydrate deficient glycoprotein syndrome type IIi","Carbohydrate deficient glycoprotein syndrome type IIj","Carbohydrate deficient glycoprotein syndrome type IIn","Carbohydrate deficient glycoprotein syndrome type Ij","Carbohydrate deficient glycoprotein syndrome type Ik","Carbohydrate deficient glycoprotein syndrome type IL","Carbohydrate deficient glycoprotein syndrome type Im","Carbohydrate deficient glycoprotein syndrome type In","Carbohydrate deficient glycoprotein syndrome type Io","Carbohydrate deficient glycoprotein syndrome type Ip","Carbohydrate deficient glycoprotein syndrome type Ir","Carbohydrate deficient glycoprotein syndrome type Iu","Carbohydrate deficient glycoprotein syndrome type Ix","Carbohydrate deficient glycoprotein syndrome type Iy","Carbonic anhydrase 2 deficiency","carbonic anhydrase II deficiency","carcinoma of adrenal cortex","carcinoma of Merkel cell","carcinoma of parafollicular cell","carcinoma of parathyroid","carcinoma of parathyroid gland","carcinoma of pituitary","carcinoma of pituitary gland","carcinoma of the adrenal cortex","carcinoma of the parathyroid","carcinoma of the parathyroid gland","carcinoma of the pituitary","carcinoma of the pituitary gland","carcinoma of thymus","carcinoma with t(15;19)(q13;p13.1) translocation","carcinoma, adrenocortical, malignant","carcinoma, C-cell, malignant","cardiac anomalies - developmental delay - facial dysmorphism syndrome","Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome","cardiac diverticulum (disease)","cardiac valvular dysplasia, X-linked","cardiac valvular form of autosomal recessive Ehlers-Danlos syndrome","cardiac valvular form of Ehlers-Danlos syndrome","Cardiac-valvular EDS","cardiofaciocutaneous (CFC) syndrome","Cardiogenital syndrome","Cardiomyopathic lentiginosis","cardiomyopathy dilated with conduction defect type 1","cardiomyopathy, dilated, type 1A","cardiomyopathy, dilated, type 1J","cardiomyopathy, familial hypertrophic","Cardioskeletal myopathy with neutropenia and abnormal mitochondria","Cardioskeletal myopathy-neutropenia syndrome","CARKD deficiency","Carmi syndrome","Carney dyad","Carney syndrome","Carney-Stratakis dyad","Carnitine deficiency","Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency","Carnitine palmitoyl transferase IA deficiency","Carnitine Palmitoyltransferase 1A Deficiency","Carnitine palmitoyltransferase deficiency type 2","carnitine palmitoyltransferase I deficiency","Carnitine transporter defect","carnitine transporter deficiency","carnitine uptake defect","Carnitine uptake deficiency","carnosinemia","CAS","CASIL","Cassia Stocco dos Santos syndrome","Castleman's tumor","Castleman's tumour","Castro Gago-Pombo-Novo syndrome","CAT","Cat-Cry syndrome","cat-eye syndrome (Type I)","Cat-scratch fever","Catalase deficiency","Cataract-alopecia-sclerodactyly syndrome","Cataract-ataxia-hearing loss syndrome","Cataract-hearing loss-hypogonadism syndrome","cataract-mental retardation-hypogonadism","Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome","Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome","Catastrophic APS","CATCH 22","Catel Manzke Syndrome","Catel-Hempel syndrome","Catel-Hempel type dysostosis enchondralis metaepiphysaria","Catlin marks","CATSHL syndrome","Caudal appendage-hearing loss syndrome","Caudal dysgenesis syndrome","Caudal dysplasia","Caudal regression sequence","Causalgia","CAVC","Cavernous hemangioma of the retina","Cayler cardiofacial syndrome","Cayman ataxia","Cayman type cerebellar ataxia","CBAS1","CBAS2","CBAS3","CBAS4","CBAVD","CBE","CC","CCA","CCA syndrome","CCAFCA","CCAM","CCC dysplasia","CCDS3","CCFDN","CCGE syndrome","CCHF","CCHS","CCSF","CCV","CDA III","CDA type 3","CDA type III","CDAGS syndrome","CDCBM1","CDCBM7","CDCD1","CDD","CDFE syndrome","CDFES","CDG 1A","CDG 1I","CDG syndrome type Ia","CDG syndrome type Ib","CDG syndrome type Ic","CDG syndrome type Id","CDG syndrome type Ie","CDG syndrome type If","CDG syndrome type Ig","CDG syndrome type Ih","CDG syndrome type Ii","CDG syndrome type IIa","CDG syndrome type IIb","CDG syndrome type IId","CDG syndrome type IIe","CDG syndrome type IIf","CDG syndrome type IIg","CDG syndrome type IIh","CDG syndrome type IIi","CDG syndrome type IIj","CDG syndrome type IIm","CDG syndrome type IIn","CDG syndrome type Ij","CDG syndrome type Ik","CDG syndrome type IL","CDG syndrome type Im","CDG syndrome type In","CDG syndrome type Io","CDG syndrome type Ip","CDG syndrome type Iq","CDG syndrome type Ir","CDG syndrome type Is","CDG syndrome type Iu","CDG syndrome type Iw","CDG syndrome type Ix","CDG syndrome type Iy","CDG-Ia","CDG-Ib","CDG-Ic","CDG-Id","CDG-Ie","CDG-If","CDG-Ig","CDG-Ih","CDG-Ii","CDG-IIa","CDG-IIb","CDG-IId","CDG-IIe","CDG-IIf","CDG-IIg","CDG-IIh","CDG-IIi","CDG-IIj","CDG-IIm","CDG-IIn","CDG-Ij","CDG-Ik","CDG-IL","CDG-Im","CDG-In","CDG-Io","CDG-Ip","CDG-Iq","CDG-Ir","CDG-Is","CDG-Iu","CDG-Iw","CDG-Ix","CDG-Iy","CDG1A","CDG1B","CDG1C","CDG1D","CDG1E","CDG1F","CDG1G","CDG1H","CDG1I","CDG1J","CDG1K","CDG1L","CDG1M","CDG1N","CDG1O","CDG1P","CDG1Q","CDG1R","CDG1S","CDG1U","CDG1V","CDG1W","CDG1X","CDG1Y","CDG2A","CDG2B","CDG2D","CDG2E","CDG2F","CDG2G","CDG2H","CDG2I","CDG2J","CDG2M","CDG2N","CDGIc","CDGId","CDGIe","CDGIf","CDGIg","CDGIj","CDH","CDHS","CDI","CDO syndrome","CDPD","CDPX2","CDPXD","CDS","CDSP","CEA","CED","cEDS","Celia disease","Celia encephalopathy","Cenani syndactyly","Cenani-Lenz syndactyly","Cenani-Lenz syndactyly syndrome","Central areolar choroidal sclerosis","Central hypothyroidism due to TRH receptor deficiency","central nervous system rhabdoid neoplasm","central nervous system rhabdoid tumor","central nervous system rhabdoid tumour","central neurocytoma (WHO grade II)","central neurofibromatosis","centralopathic epilepsy","centronuclear myopathy 1","centronuclear myopathy, autosomal dominant","centronuclear myopathy, autosomal recessive","centronuclear myopathy, autosomal, modifier of","centronuclear myopathy, X-linked","Centrotemporal epilepsy","centrotemporal epilepsy, isolated cases","CEP","Cephalothoracic lipodystrophy","Cerebellar ataxia with azoospermia and intellectual disability","Cerebellar ataxia with bilateral vestibulopathy syndrome","cerebellar ataxia, mental retardation and dysequlibrium syndrome","cerebellar ataxia, mental retardation, and dysequilibrium","cerebellar ataxia, neuropathy, and vestibular areflexia syndrome","cerebellar ataxia, nonprogressive, with intellectual disability","cerebellar ataxia, nonprogressive, with mental retardation","Cerebellar ataxia-intellectual disability-dysequilibrium syndrome","cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome","cerebellar dysfunction with variable cognitive and behavioral abnormalities","cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay","Cerebellar syndrome-pigmentary maculopathy syndrome","Cerebellofaciodental syndrome","cerebelloparenchymal disorder II","Cerebellotrigeminal-dermal dysplasia syndrome","cerebellum embryonal neoplasm","cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1","Cerebral arteriovenous malformation","cerebral creatine deficiency syndrome 1","cerebral creatine deficiency syndrome 1, X-linked recessive","cerebral creatine deficiency syndrome 2","cerebral creatine deficiency syndrome 3","cerebral creatine deficiency syndrome type 1","cerebral creatine deficiency syndrome type 2","cerebral creatine deficiency syndrome type 3","Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome","Cerebral gigantism","cerebral gigantism syndrome","cerebral-cerebellar-coloboma syndrome, X-linked, X-linked recessive","Cerebrohepatorenal syndrome","Cerebromedullospinal disconnection","Cerebrooculodentoauriculoskeletal syndrome","cerebroretinal angiomatosis","Cerebrovascular ferrocalcinosis","Cernunnos deficiency","Cernunnos XLFD","cervical aortic arch","cervical symmetrical lipomatosis","Cervicooculoacoustic syndrome","CES","CF","CFC","CFC syndrome","CFE","CFND","CFNS","CFSMR1","CFTDM","CGD","CGD2","CGGM","CGHT","CGL","CH","ChAc","Chagas disease","CHAI","Chanarin-Dorfman syndrome","CHANDS","Chang-Davidson-Carlson syndrome","Chaotic atrial tachycardia","Char-Douglas-Dungan syndrome","Charcot disease","Charcot Marie Tooth disease X-linked 1","Charcot Marie Tooth disease X-linked recessive 2","Charcot Marie Tooth disease X-linked recessive 3","Charcot-Marie-Tooth disease and deafness","Charcot-Marie-Tooth disease type 2 caused by mutation in HARS","Charcot-Marie-Tooth disease type 2A2A","Charcot-Marie-Tooth disease type 2K","Charcot-Marie-Tooth disease with deafness and intellectual disability","Charcot-Marie-Tooth disease with deafness and mental retardation","Charcot-Marie-Tooth disease X-linked dominant 1","Charcot-Marie-Tooth disease X-linked dominant type 1","Charcot-Marie-Tooth disease X-linked dominant type 6","Charcot-Marie-Tooth disease X-linked recessive type 2","Charcot-Marie-Tooth disease X-linked recessive type 3","Charcot-Marie-Tooth disease X-linked recessive type 4","Charcot-Marie-Tooth disease X-linked recessive type 5","Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K","Charcot-Marie-Tooth disease, axonal, type 2A2A","Charcot-Marie-Tooth disease, axonal, type 2w","Charcot-Marie-Tooth disease, axonal, type 2y","Charcot-Marie-Tooth disease, axonal, type 2z","Charcot-Marie-Tooth disease, foot deformity of","Charcot-Marie-Tooth disease, type 2E","Charcot-Marie-Tooth disease, type 2Y","Charcot-Marie-Tooth disease, X-linked dominant, 6, X-linked dominant","Charcot-Marie-Tooth disease, X-linked recessive, 4","Charcot-Marie-Tooth disease, X-linked recessive, 5","Charcot-Marie-Tooth disease, X-linked recessive, 5, X-linked recessive","Charcot-Marie-Tooth disease-deafness syndrome","Charcot-Marie-Tooth disease-hearing loss syndrome","Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome","Charcot-Marie-Tooth neuropathy X type 1","Charcot-Marie-Tooth neuropathy X type 5","Charcot-Marie-Tooth neuropathy, X-linked recessive, 2","Charcot-Marie-Tooth neuropathy, X-linked recessive, 2, X-linked recessive","Charcot-Marie-Tooth neuropathy, X-linked recessive, 3","Charcot-Marie-Tooth neuropathy, X-linked recessive, 3, X-linked recessive","Charcot-Marie-Tooth neuropathy, X-linked recessive, 5","Charcot-Marie-Tooth neuropathy, X-linked, 1","Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined","Charcot-Marie-Tooth peroneal muscular atrophy, X-linked","Charcot-Marie-Tooth syndrome type 1A","CHARGE association","CHARGE-like syndrome","Charlevoix disease","Charlevoix-Saguenay spastic ataxia","CHC type 2","CHED","CHED2","CHEDII","Cheney syndrome","Cherry-red spot-myoclonus syndrome","Cherubism-gingival fibromatosis-intellectual disability syndrome","Chiari 4 malformation","Chiari IV malformation","Chiari malformation type 1","Chiari malformation type I","Chikungunya fever","Chikungunya virus caused disease or disorder","Chikungunya virus disease or disorder","Chikungunya virus infectious disease","CHILD nevus","CHILD syndrome, X-linked dominant","childhood alternating hemiplegia","childhood apraxia of speech","Childhood ataxia with diffuse central nervous system hypomyelination","childhood carcinoma of the liver cell","childhood dermatomyositis","childhood disintegrative disease","childhood epilepsy with centrotemporal spikes","childhood glaucoma (disease)","childhood hepatocellular carcinoma","childhood onset GLUT1 deficiency syndrome 2","childhood onset GLUT1 deficiency syndrome type 2","Childhood-onset generalized dystonia-optic atrophy syndrome","Childhood-onset HCC","Childhood-onset hepatocellular carcinoma","childhood-onset polyarteritis nodosa","Childhood-onset spastic paraparesis-distal muscle wasting syndrome","Childhood-onset spasticity with variant non-ketotic hyperglycinemia","Chitty-Hall-Baraitser syndrome","CHLE","Chloride shunt syndrome","CHNG1","CHNG4","Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome","Cholangiocar.- intra/extrahepatic","cholangiocarcinoma of hilar portion of hepatic duct","cholangiocarcinoma, intrahepatic and extrahepatic bile ducts (adenocarcinoma)","cholangiocarcinoma, malignant","Cholangiocellular carcinoma","cholelithiasis, low phospholipid-associated","cholera due to Vibrio cholerae","cholestanol storage disease","Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency","cholestasis, benign recurrent intrahepatic","cholestasis, progressive familial intrahepatic","Cholestasis-pigmentary retinopathy-cleft palate syndrome","cholesterol side-chain cleavage deficiency","chondrocalcinosis 2","chondrocalcinosis type 2","chondrodysplasia lethal recessive","chondrodysplasia punctata 2 X-linked dominant","chondrodysplasia punctata, X-linked dominant, X-linked dominant","chondrodysplasia punctata, X-linked recessive, X-linked recessive","chondrodysplasia with hemangioma","chondrodysplasia with multiple dislocations","Chondrodysplasia with snail-like pelvis","Chondrodysplasia, Blomstrand type","Chondrodysplasia, Grebe type","Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome","Chondrodysplasia-disorder of sex development syndrome","Chondrodysplasia-pseudohermaphroditism syndrome","Chondrodystrophia calcificans congenita","Chondroectodermal dysplasia","Chondroplasia angiomatosis","CHOPS syndrome","Chorea-acanthocytosis","choreoathetosis, hypothyroidism, and neonatal respiratory distress","Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome","chorioadenoma","chorioadenoma Destruens","chorioathetosis with mental retardation and abnormal behavior","chorioathetosis with mental retardation and abnormal behaviour","Choroid plexus papilloma","choroid plexus papilloma, no ICD-O subtype","choroidal dystrophy","CHR-RPE","Christian brachydactyly","Christian syndrome","Christianson-Fourie syndrome","Christmas disease","Chromoblastomycosis","chromosome 10q24 duplication syndrome","chromosome 10q26 deletion syndrome","chromosome 11p13 deletion syndrome","Chromosome 11q deletion syndrome","chromosome 13q14 deletion syndrome","chromosome 13q14 deletion syndrome, isolated cases","Chromosome 14 Ring","chromosome 14q11-q22 deletion syndrome","chromosome 14q11-q22 deletion syndrome, isolated cases","Chromosome 15 Ring","chromosome 15q11.2 deletion syndrome","chromosome 15q13.3 microdeletion syndrome","chromosome 15q26-qter deletion syndrome","chromosome 15q26-qter deletion syndrome, isolated cases","chromosome 16p11.2 deletion syndrome, 593kb","chromosome 16p11.2 deletion syndrome, type 220kb","chromosome 16p11.2 duplication syndrome","chromosome 16p12.2-p11.2 deletion syndrome, isolated cases","chromosome 17P11.2 deletion syndrome","chromosome 17p11.2 duplication syndrome","chromosome 17q11.2 deletion syndrome","chromosome 17q11.2 deletion syndrome, 1.4-MB","chromosome 17q11.2 duplication syndrome, 1.4-mb","chromosome 17q12 deletion syndrome","chromosome 17q12 duplication syndrome","chromosome 17q21.31 deletion syndrome","chromosome 17q21.31 duplication syndrome","chromosome 17q23.1-q23.2 deletion syndrome","chromosome 17q23.1-q23.2 deletion syndrome, isolated cases","Chromosome 18 duplication","Chromosome 18 Ring","chromosome 18p deletion","chromosome 18p deletion syndrome","chromosome 18q deletion syndrome","Chromosome 18q- Syndrome","chromosome 19p13.13 deletion syndrome","chromosome 1p32-p31 deletion syndrome","chromosome 1p36 deletion syndrome, distal, isolated cases","chromosome 1q21.1 deletion syndrome, isolated cases","chromosome 1q21.1 duplication syndrome","chromosome 1q21.1 duplication syndrome, isolated cases","chromosome 1q41-q42 deletion syndrome","chromosome 1q41-q42 deletion syndrome, isolated cases","chromosome 21 en anneau","Chromosome 21 Ring","Chromosome 22 Ring","Chromosome 22q11.2 Deletion Syndrome","chromosome 22q11.2 deletion syndrome, distal","chromosome 22q11.2 microduplication syndrome","chromosome 22q11.2 microduplication syndrome, isolated cases","chromosome 2p16.1-p15 deletion syndrome","chromosome 2p16.1-p15 deletion syndrome, isolated cases","chromosome 2q32-q33 deletion syndrome","Chromosome 3, Monosomy 3p","chromosome 3pter-p25 deletion syndrome","chromosome 3q13.31 deletion syndrome","chromosome 3q29 microdeletion syndrome, isolated cases","chromosome 4p16.3 deletion syndrome","chromosome 4q21 deletion syndrome","chromosome 4q21 deletion syndrome, isolated cases","Chromosome 5, Trisomy 5p","chromosome 5p deletion syndrome","chromosome 5q deletion syndrome","chromosome 5q12 deletion syndrome","Chromosome 6 Ring","chromosome 6pter-p24 deletion syndrome","chromosome 6pter-p24 deletion syndrome, isolated cases","chromosome 6q24-q25 deletion syndrome","chromosome 6q25-q25 deletion syndrome","chromosome 7q11.23 deletion syndrome, distal, 1.2mb","chromosome 8q21.11 deletion syndrome","chromosome 8q21.11 deletion syndrome, isolated cases","Chromosome 9 Ring","Chromosome 9, Tetrasomy 9p","chromosome 9p deletion","chromosome 9p duplication","chromosome 9q deletion syndrome","chromosome 9Q34.3 deletion syndrome","chromosome Xp11.23-p11.22 duplication syndrome","chromosome xp11.23-p11.22 duplication syndrome, X-linked dominant","chromosome xp11.3 deletion syndrome, X-linked recessive","chromosome Xp21 deletion syndrome","chromosome xq27.3-q28 duplication syndrome, X-linked recessive","chronic allograft nephropathy","Chronic arachnoiditis","Chronic berylliosis","Chronic beryllium lung disease","Chronic cold agglutinin disease","chronic constitutional pure red cell anemia","Chronic eosinophilic pneumonia","chronic focal encephalitis","Chronic granulocytic leukemia","chronic idiopathic jaundice","chronic idiopathic myelofibrosis","Chronic infantile neurological cutaneous and articular syndrome","Chronic inflammatory demyelinating polyradiculoneuropathy","chronic interstitial cystitis","Chronic Intestinal Pseudo-Obstruction","Chronic kidney allograft nephropathy","Chronic maxillary atelectasis grade III","chronic mucocutaneous candidiasis (disease)","chronic multifocal osteomyelitis","chronic myelocytic leukaemia","chronic myelocytic leukemia","chronic myelogenous leukaemia (CML)","Chronic myelogenous leukemia","chronic myelogenous leukemia (CML)","chronic myelogenous leukemias","chronic neurologic cutaneous and articular syndrome","Chronic neurovisceral ASMD","chronic non-suppurative destructive cholangitis","chronic nonsuppurative destructive cholangitis","Chronic photosensitivity dermatitis","chronic recurrent multifocal osteomyelitis","chronic recurrent multifocal osteomyelitis (disease)","chronic relapsing polyneuropathy","Chronic septic granulomatosis","Chronic urticaria with gammopathy","Chronic urticaria with macroglobulinemia","Chronic visceral ASMD","CHS","Chudley-Rozdilsky syndrome","Chung-Jansen syndrome","Churg-Strauss syndrome","Churg-Strauss vasculitis","Chédiak-Higashi disease","Chédiak-Higashi-like syndrome","Chédiak-Higashi-Steinbrink syndrome","Cicatricial pemphigoid","CID with expansion of gamma delta T cells","CID-MIA/early-onset IBD","CIDP","CIE","CIL-F","Cilliers-Beighton syndrome","CIMF","CINCA/NOMID","CIP","CIP syndrome","CIPA","CIPO","CIPO syndrome","CIPS","circadian rhythm sleep disorder, free running type","Circumferential skin creases, Kunze type","Circumscribed acral hypokeratosis","circumscribed scleroderma","Citrullinemia type 1","Citrullinemia type 2","CK syndrome, X-linked recessive","Claes-Jensen syndrome","CLAH","CLAPO syndrome, somatic","Clarkson disease","Classic 21-OHD CAH","Classic Addison disease","Classic antiphospholipid syndrome","Classic APLS","Classic citrullinemia","Classic ependymoma","classic familial adenomatous polyposis","classic FAP","Classic GCD","Classic GLUT1 deficiency syndrome","Classic GLUT1-DS","Classic granular corneal dystrophy","Classic HAT","Classic heparin-associated thrombocytopenia","Classic HIT","Classic Hodgkin disease","classic homocystinuria","classic lamellar ichthyosis","Classic lattice corneal dystrophy","classic polyarteritis nodosa","Classic Refsum disease","Classic RTA","Classic xanthinuria","Classical EDS","classical Hodgkin lymphoma","Classical homocystinuria","classical mantle cell lymphoma","classical polyarteritis nodosa","Classical-like EDS type 1","Classical-like EDS type 2","CLE","clEDS type 1","clEDS type 2","Cleft lip and palate","Cleft lip-alveolus-palate syndrome","Cleft lip-limb and heart malformations syndrome","Cleft lip/palate with mucous cysts of lower lip","Cleft lip/palate-abnormal thumbs-microcephaly syndrome","Cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome","Cleft lip/palate-hearing loss-sacral lipoma syndrome","Cleft lip/palate-syndactyly-pili torti syndrome","Cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome","Cleft palate-coloboma-deafness syndrome","Cleft palate-coloboma-hearing loss syndrome","Cleft soft palate","Cleft sternum","Cleft velum palatinum","cleft-limb-heart malformation syndrome syndrome","Clefting-ectropion-conical teeth syndrome","Cleidocranial dysostosis","cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia","Cleidocranial dysplasia-micrognathia-absent thumbs syndrome","CLIFAHDD syndrome","CLN14 disease","Clostridium tetani caused infectious disease of the nervous system","Clostridium tetani infectious disease of the nervous system","Clouston syndrome","CLOVE syndrome, somatic","CLPED1","CLS","CLVM with segmental distribution","CMA grade 3","CMAMMA","CMAVM1","CMC","CMD","CMD with cerebellar involvement","CMD with intellectual disability","CMD with intellectual disability and severe epilepsy","CMD without intellectual disability","CMD-CRB","CMD-MR","CMD-no MR","CMD1A","CMD1J","CML","CML - chronic myelogenous leukaemia","CML - chronic myelogenous leukemia","CMMR-D syndrome","CMP-sialic acid transporter deficiency","CMRD","CMS","CMT-deafness-intellectual disability syndrome","CMT1A","CMT1B","CMT1E","CMT1F","CMT1X","CMT2","CMT2, formerly","CMT2A2","CMT2B1","CMT2E","CMT2F","CMT2K","CMT2W","CMT2Y","CMT2Z","CMT3X","CMT4A","CMT4B2","CMT4C","CMT4D","CMT4G","CMT4X","CMT5X","CMT6X","CMTC","CMTX","CMTX 1","CMTX 2","CMTX 3","CMTX 4","CMTX1","CMTX2","CMTX3","CMTX4","CMTX5","CMTX6","CN","CNC","CNM1","CNO/CRMO","CNS rhabdoid neoplasm","CNS rhabdoid tumor","CNS rhabdoid tumour","CNSHA4","CO-induced parkinsonism","Cobb syndrome","Cobblestone lissencephaly without muscular or eye involvement","Coccidioides immitis caused disease or disorder","Coccidioides immitis disease or disorder","Coccidioides immitis infectious disease","Coccidioides infection","coenzyme Q10 deficiency, primary, type 4","Coffin-Lowry syndrome, X-linked dominant","COFG syndrome","COIF","COIF syndrome","COL4A-related brain small vessel disease with hemorrhage","Cold agglutinin syndrome","cold-induced sweating syndrome type 1","Collins-Pope syndrome","Coloboma of macula-brachydactyly type B syndrome","Coloboma of optic nerve with renal disease","colon atresia","colon NET","colon neuroendocrine neoplasm","colon neuroendocrine tumor","colon neuroendocrine tumor, well differentiated, low or intermediate grade","colon neuroendocrine tumour","Colonic aganglionosis","colonic atresia (disease)","Colonic NET","colonic neuroendocrine neoplasm","colonic neuroendocrine tumour","Color blindness, blue monocone monochromatic type","Colorectal adenomatous polyposis","colorectal adenomatous polyposis due to monosomy 5q22.2","colorectal adenomatous polyposis, autosomal recessive","colour blindness, blue monocone monochromatic type","Combined 17-hydroxylase/17,20-lyase deficiency","Combined cerebellar and peripheral ataxia-deafness-diabetes mellitus syndrome","Combined defect in adenosylcobalamin and methylcobalamin synthesis","combined deficiency of factor V and factor type VIII","Combined form of soft and hard cleft palate","combined granular-lattice corneal dystrophy","Combined hamartoma of the retina and RPE","Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency","combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia","combined immunodeficiency with expansion of gamma delta T cells","Combined immunodeficiency with hypereosinophilia","combined inflammatory and immunologic defect","Combined malonic and methylmalonic aciduria","Combined oxidative phosphorylation defect type 10","combined oxidative phosphorylation deficiency 27","combined oxidative phosphorylation deficiency 29","combined oxidative phosphorylation deficiency 29; COXPD29","combined oxidative phosphorylation deficiency 6, X-linked recessive","combined oxidative phosphorylation deficiency caused by mutation in C12ORF65","combined oxidative phosphorylation deficiency type 1","combined oxidative phosphorylation deficiency type 10","combined oxidative phosphorylation deficiency type 13","combined oxidative phosphorylation deficiency type 23","combined oxidative phosphorylation deficiency type 27","combined oxidative phosphorylation deficiency type 29","combined oxidative phosphorylation deficiency type 6","combined oxidative phosphorylation deficiency type 7","Combined prosaposin deficiency","comedo Nevus","Common aorticopulmonary trunk","Common truncus arteriosus","Complete androgen resistance syndrome","Complete atrioventricular canal","Complete atrioventricular canal defect","Complete atrioventricular septal defect with atrial and ventricular components","Complete AVSD","Complete growth hormone insensitivity","complete hypopituitarism","complete hypoxanthine-guanine phosphoribosyltransferase deficiency","Complete or incomplete color blindness","complete or incomplete colour blindness","complete trisomy 18 syndrome","complex 1 mitochondrial respiratory chain deficiency","complex cortical dysplasia with other brain malformations type 1","complex cortical dysplasia with other brain malformations type 7","Complex GKD","Complex glycerol kinase deficiency","complex neurodevelopmental disorder with or without aldosteronism","Comèl-Netherton syndrome","CONDBA","condensing osteitis of the clavicle","condensing osteitis of the medial clavicle","Conductive hearing loss-malformed external ear syndrome","Conductive hearing loss-ptosis-skeletal anomalies syndrome","Cone dystrophy","Cone rod dystrophy-amelogenesis imperfecta syndrome","congenital absence of lens","Congenital absence of pain with severe intellectual disability","congenital absence of penis","congenital absence of tibia","congenital absence of trachea","Congenital absence of ulna and fibula","congenital absence/hypoplasia of fingers excluding thumb, unilateral","congenital adrenal gland hypoplasia","congenital adrenal Hypoplasia","congenital aleukocytosis","Congenital analgesia with severe intellectual disability","congenital antithrombin III deficiency","congenital aphakia","congenital aplasia and dysplasia of the tibia with intact fibula","congenital AT-III deficiency","congenital atresia of colon","congenital atresia of duodenum","congenital atresia of larynx","congenital atresia of the larynx","congenital atresia of tricuspid valve","congenital atrial septal defect","Congenital atrioventricular block","Congenital benign spinal muscular atrophy with contractures","Congenital bilateral agenesis of vas deferens","Congenital bilateral aplasia of vas deferens","congenital bile acid synthesis defect 1","congenital bile acid synthesis defect 4","congenital biliary atresia","Congenital bullous poikiloderma","congenital cardiomyopathy","Congenital central alveolar hypoventilation syndrome","Congenital central alveolar hypoventilation-Hirschsprung disease syndrome","congenital central hypoventilation","congenital cerebellar Hypoplasia","Congenital cervical vertebral fusion","Congenital circumferential skin folds","congenital cleft larynx","Congenital constriction ring syndrome","Congenital convex foot","Congenital convex pes valgus","congenital cystic adenomatoid malformation of lung","Congenital cystic adenomatoid malformation of the lung","Congenital cystic adenomatous malformation of the lung","Congenital cystic disease of the lung","congenital Cytomegaloviral infection","congenital diarrhea 5 with tufting enteropathy","congenital disorder of deglycosylation 1","Congenital disorder of glycosylation type 1a","Congenital disorder of glycosylation type 1b","Congenital disorder of glycosylation type 1c","Congenital disorder of glycosylation type 1d","Congenital disorder of glycosylation type 1e","Congenital disorder of glycosylation type 1f","Congenital disorder of glycosylation type 1g","Congenital disorder of glycosylation type 1h","Congenital disorder of glycosylation type 1i","Congenital disorder of glycosylation type 1j","Congenital disorder of glycosylation type 1k","Congenital disorder of glycosylation type 1L","Congenital disorder of glycosylation type 1m","Congenital disorder of glycosylation type 1n","Congenital disorder of glycosylation type 1o","Congenital disorder of glycosylation type 1p","Congenital disorder of glycosylation type 1q","Congenital disorder of glycosylation type 1r","Congenital disorder of glycosylation type 1s","Congenital disorder of glycosylation type 1u","Congenital disorder of glycosylation type 1w","Congenital disorder of glycosylation type 1x","Congenital disorder of glycosylation type 1y","Congenital disorder of glycosylation type 2a","Congenital disorder of glycosylation type 2b","Congenital disorder of glycosylation type 2d","Congenital disorder of glycosylation type 2e","Congenital disorder of glycosylation type 2f","Congenital disorder of glycosylation type 2g","Congenital disorder of glycosylation type 2h","Congenital disorder of glycosylation type 2i","Congenital disorder of glycosylation type 2j","Congenital disorder of glycosylation type 2m","Congenital disorder of glycosylation type 2n","Congenital disorder of glycosylation type Ia","Congenital disorder of glycosylation type Ib","Congenital disorder of glycosylation type Ic","Congenital disorder of glycosylation type Id","Congenital disorder of glycosylation type Ie","Congenital disorder of glycosylation type If","Congenital disorder of glycosylation type Ig","Congenital disorder of glycosylation type Ih","Congenital disorder of glycosylation type Ii","Congenital disorder of glycosylation type IIa","Congenital disorder of glycosylation type IIb","Congenital disorder of glycosylation type IId","Congenital disorder of glycosylation type IIe","Congenital disorder of glycosylation type IIf","Congenital disorder of glycosylation type IIg","Congenital disorder of glycosylation type IIh","Congenital disorder of glycosylation type IIi","Congenital disorder of glycosylation type IIj","Congenital disorder of glycosylation type IIm","Congenital disorder of glycosylation type IIn","Congenital disorder of glycosylation type Ij","Congenital disorder of glycosylation type Ik","Congenital disorder of glycosylation type Im","Congenital disorder of glycosylation type In","Congenital disorder of glycosylation type Io","Congenital disorder of glycosylation type Ip","Congenital disorder of glycosylation type Iq","Congenital disorder of glycosylation type Ir","Congenital disorder of glycosylation type Is","Congenital disorder of glycosylation type Iu","congenital disorder of glycosylation type IV","Congenital disorder of glycosylation type Iw","Congenital disorder of glycosylation type Ix","Congenital disorder of glycosylation type Iy","congenital disorder of glycosylation, type Iw, autosomal recessive","congenital disorder of glycosylation, type Iy, X-linked recessive","congenital duodenal atresia","congenital dyserythropoietic anaemia with thombocytopenia","Congenital dyserythropoietic anemia type 3","Congenital dyserythropoietic anemia with thombocytopenia","congenital elliptocytosis","congenital enterovirus infectious disease","congenital erythrocytosis due to erythropoietin receptor mutation","Congenital esophageal atresia","Congenital estrogen deficiency","Congenital factor IX deficiency","congenital factor IX disorder","Congenital Factor VIII deficiency","congenital factor VIII disorder","congenital fiber-type disproportion","Congenital Fibrosis of the Extraocular Muscles","Congenital folate malabsorption","Congenital fused cervical segments","Congenital FVIII deficiency","congenital generalised hypertrichosis terminalis","Congenital generalized hypertrichosis terminalis","Congenital glucose-galactose malabsorption","Congenital Hageman factor deficiency","Congenital hemidysplasia with ichthyosiform erythroderma and limb defects","congenital hereditary endothelial dystrophy of cornea","Congenital hereditary endothelial dystrophy type 2","congenital hereditary lymphedema","congenital herpes simplex","Congenital hypertrichosis-acromegaloid facial features spectrum","Congenital hypertrichosis-coarse facial features spectrum","congenital hypoplastic anaemia","congenital hypoplastic anemia","congenital hypoplastic anemia, Blackfan-Diamond type","Congenital hypotransferrinemia","congenital ichthyosiform erythroderma (disease)","Congenital ichthyosis type 4","Congenital ichthyosis-microcephalus-quadriplegia syndrome","Congenital IGHD","congenital infection caused by enterovirus","Congenital insensitivity to pain and thermal analgesia","Congenital insensitivity to pain with anhidrosis","Congenital insensitivity to pain with preserved temperature sensation","Congenital insensitivity to pain with severe non-progressive cognitive delay","Congenital intestinal aganglionosis","congenital isolated adrenocorticotropic hormone deficiency (disease)","Congenital isolated GH deficiency","Congenital isolated growth hormone deficiency","congenital lamellar ichthyosis","congenital lipomatous overgrowth, vascular malformations, and epidermal nevi","Congenital lobar hyperinflation","congenital long QT syndrome","congenital longitudinal deficiency of the fibula","congenital longitudinal deficiency of the radius","congenital longitudinal deficiency of the tibia","congenital longitudinal deficiency of the ulna","Congenital major airway collapse","Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells","congenital malabsorptive diarrhea type 4","congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells","congenital malabsorptive diarrhoea type 4","congenital megacolon","congenital melanocytic nevi","congenital melanocytic nevus","congenital melanocytic nevus of skin","congenital melanocytic nevus of the skin","congenital merosin-deficient muscular dystrophy type 1A","congenital methemoglobinemia","congenital microtias","Congenital microvillous atrophy","Congenital microvillus atrophy","Congenital Minamata disease","Congenital miosis","Congenital muscular dystrophy due to laminin alpha2 deficiency","Congenital muscular dystrophy type 1A","Congenital muscular dystrophy, Davignon-Chauveau type","Congenital muscular dystrophy-dystroglycanopathy without intellectual disability","Congenital Myasthenic Syndromes","congenital myopathy with excess of muscle spindles","congenital myopathy with fiber type disproportion","congenital myopathy with fibre type disproportion","Congenital myopathy-cleft palate-malignant hyperthermia syndrome","congenital nevus of skin","congenital nevus of the skin","congenital non bullous ichthyosiform erythroderma","Congenital nonprogressive spinal muscular atrophy","Congenital nonprogressive spinocerebellar ataxia","congenital oestrogen deficiency","congenital omphalocele","congenital Ondine curse","Congenital onychodysplasia of the index fingers","Congenital PAI-1 deficiency","congenital panfollicular nevus (disease)","Congenital PAP","congenital penoscrotal transposition","congenital pernicious anaemia","Congenital pernicious anemia","congenital pigmented melanocytic Nevus","congenital pigmented nevus of skin","congenital pigmented nevus of the skin","congenital pigmented skin nevus","congenital poikiloderma with bullae, Weary type","congenital polycythemia due to erythropoietin receptor mutation","congenital posterior urethral valves","Congenital PRCA","Congenital primary megalo-ureter","Congenital proconvertin deficiency","congenital prothrombin deficiency","Congenital pseudarthrosis of the clavicle","Congenital pulmonary alveolar proteinosis","congenital pulmonary lymphangiectasis","Congenital pulmonary venolobar syndrome","Congenital pure red cell aplasia","Congenital retinal detachment","Congenital retinal telangiectasia","Congenital ring constrictions","Congenital rocker-bottom foot","congenital rubella","Congenital scalp defects with distal limb anomalies","Congenital scalp defects with distal limb reduction anomalies","congenital skin nevus","congenital small intestine atresia","congenital spherocytic hemolytic anaemia","Congenital spondyloepiphyseal dysplasia","Congenital SQTS","Congenital stationary night blindness, Oguchi type","Congenital stenosis of pulmonary valve","Congenital stiff man syndrome","Congenital Stuart factor deficiency","Congenital sucrose intolerance","Congenital suprabulbar paresis","congenital telangiectatic erythema syndrome","Congenital tracheobronchomegaly","Congenital tritanopia","Congenital tubular nose","congenital valvular dysplasia","congenital vitamin K-dependent coagulation factors combined deficiency","congenital von willebrand's disease","Congenitally corrected transposition of the great vessels","congenitally uncorrected transposition of the great vessels","Congo fever","Congo hemorrhagic fever","Congo-Crimean hemorrhagic fever","Conn adenoma with seizures and neurological abnormalities","Conor and Bruch's disease","Conotruncal anomaly face syndrome","Conrad Hunermann Happle syndrome","Conradi Hunermann syndrome","Conradi-Hünermann-Happle syndrome","Constriction band syndrome","constriction rings syndrome","continuous muscle fiber activity","continuous muscle fiber activity hereditary","Continuous muscle fiber activity syndrome","continuous muscle fibre activity hereditary","continuous muscle fibre activity syndrome","Continuous spikes and waves during sleep","Continuous spikes and waves during slow-wave sleep","contractures of feet, muscle atrophy, and oculomotor apraxia","Cooley anaemia","Cooley anemia","COP","CoPAN","Copenhagen syndrome","coproporphyrinogen oxidase deficiency","Cori disease","Cori-Forbes disease","corneal amyloidosis","Corneal anesthesia-deafness-intellectual disability syndrome","Corneal anesthesia-hearing loss-intellectual disability syndrome","Corneal dystrophy epithelial-short stature syndrome","Corneal dystrophy Groenouw type I","Corneal dystrophy Groenouw type II","Corneal dystrophy of Bowman layer type 2","Corneal dystrophy of Bowman layer type II","corneal dystrophy with gum Hypertrophy","Corneal dystrophy with progressive deafness","Corneal dystrophy with progressive hearing loss","corneal dystrophy, endothelial, X-linked, X-linked dominant","corneal dystrophy, Fuchs endothelial","corneal dystrophy, posterior polymorphous","Corneal dystrophy-perceptive hearing loss syndrome","corneal endothelial dystrophy, autosomal recessive","corneal-cerebellar syndrome","corneo-dermato-osseous syndrome","Coronaro-cardiac fistula","coronary arterial malformations","corpus callosum agenesis of with chorioretinal abnormality","Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome","Corpus callosum agenesis-cataract-immunodeficiency syndrome","Corpus callosum agenesis-polysyndactyly syndrome","corpus callosum, agenesis of, with Facial anomalies and cerebellar ataxia","cortical cell carcinoma","cortical dysplasia, Complex, with Other brain malformations type 1","Cortical dysplasia-focal epilepsy syndrome","cortical hyperostosis with syndactyly","Cortical hyperostosis-syndactyly syndrome","Cortical visual impairment","Corticosteroid-sensitive aseptic abscess syndrome","Corticotroph pituitary adenoma","cortisol 11-beta-ketoreductase deficiency","COS","Costeff optic atrophy syndrome","Costeff syndrome","Cousin syndrome","Cowchock syndrome","Cowchock syndrome, X-linked recessive","COWCK","COX deficiency, French-Canadian type","Coxiella burnetii caused disease or disorder","Coxiella burnetii disease or disorder","Coxiella burnetii infectious disease","Coxiellosis","COXPD10","COXPD13","COXPD23","COXPD27","COXPD29","COXPD39","COXPD7","CPAM","CPD2","CPFD","CPI","CPLS syndrome","CPP","CPS1D","cpt deficiency, hepatic, type IA","CPT II deficiency","CPTII","CPVT","CPXD","Crandall syndrome","Cranial dural arteriovenous fistula","cranial dural arteriovenous malformations","cranial rachischisis","Cranial variant of GBS","Cranial variant of Guillain-Barré syndrome","cranio-carpo-tarsal syndrome","Cranio-facio-digito-genital syndrome","Craniocarpotarsal dysplasia","Craniocarpotarsal dystrophy","Craniocerebellocardiac dysplasia","Craniofacial duplication","Craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome","craniofacial dysostosis","Craniofacial-hearing loss-hand syndrome","Craniofacial-ulnar-renal syndrome","craniofacioskeletal syndrome, X-linked recessive, X-linked dominant","Craniofrontonasal dysplasia with alopecia and hypogonadism","craniofrontonasal dysplasia, Teebi type","craniofrontonasal dysplasia, X-linked dominant","Craniofrontonasal syndrome","craniopharyngioma (morphologic abnormality)","craniopharyngioma (WHO grade I)","craniopharyngioma, benign","craniorachischisis (disease)","craniosynostosis - dysmorphism - brachydactyly","craniosynostosis brachydactyly","craniosynostosis with facial dysmorphism and brachydactyly syndrome","Craniosynostosis-alopecia-brain defect syndrome","Craniosynostosis-congenital heart disease-intellectual disability syndrome","craniosynostosis-dysmorphism-brachydactyly syndrome","Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome","CRAPB","CRASH syndrome","CRBM","CRD","creatine deficiency syndrome due to AGAT deficiency","Creatine transporter deficiency","Cree encephalitis","Creutzfeldt-Jakob disease, variant, resistance to","Cri du chat syndrome","Crimean hemorrhagic fever","Crimean hemorrhagic fever [CHF Congo virus]","Crimean-Congo haemorrhagic fever","Criss-cross atrioventricular relationships","Criswick-Schepens syndrome","CRMO","Crome syndrome","Cross syndrome","crossed polydactyly","Crouzon craniofacial dysostosis","Crouzon-dermoskeletal syndrome","Crouzonodermoskeletal syndrome","Crow-Fukase syndrome","CRPS","CRS","Cryoglobulinemia type 1","cryopyrin-associated periodic syndrome 3","Cryptococcus neoformans caused disease or disorder","Cryptococcus neoformans disease or disorder","Cryptococcus neoformans infectious disease","cryptogenic organizing pneumonitis","Cryptomicrotia-brachydactyly syndrome","Cryptophthalmos-syndactyly syndrome","CS due to BMACD","CS due to BMAD","CSBS","CSCSC","CSID","CSS","CSWS","CSWSS syndrome","CTCL / Sezary syndrome","CTCL/ mycosis fungoides","CTEPH","CTLA-4 haploinsufficiency with autoimmune infiltration disease","CTLN1","CTLN2","CTX","Cubitus valgus with mental retardation and unusual facies, X-linked recessive","CUD","Cumming syndrome","Curatolo-Cilio-Pessagno syndrome","Curly fiber corneal dystrophy","curly fibre corneal dystrophy","Curly hair-ankyloblepharon-nail dysplasia syndrome","Currarino disease","Currarino idiopathic osteoarthropathy","Currarino triad","Current pressure-sensitive neuropathy","Curry-Hall syndrome","Curry-Jones syndrome, somatic mosaic","Curth-Macklin type ichthyosis hystrix","Cushing disease, pituitary","Cushing syndrome due to BMACD","Cushing syndrome due to BMAD","Cushing syndrome due to macronodular adrenal hyperplasia","Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia","Cutaneomeningospinal angiomatosis","cutaneous APUDoma","Cutaneous hypersensitivity vasculitis","cutaneous leukocytoclastic vasculitis","Cutaneous local mastocytoma","Cutaneous mastocytosis-hearing loss-microtia syndrome","cutaneous porphyria","cutaneous T-cell lymphoma/mycosis fungoides","cutaneous T-cell lymphoma/Sezary syndrome","Cutaneovisceral angiomatosis-thrombocytopenia syndrome","cutis laxa with bone dystrophy","cutis laxa with congenital disorder of glycosylation","cutis laxa with growth and developmental delay","cutis laxa with Joint laxity and retarded development","cutis laxa, autosomal dominant","cutis laxa, autosomal recessive type 2A","cutis laxa, autosomal recessive, type IIA","cutis laxa, debre type","Cutis laxa-corneal clouding-intellectual disability syndrome","Cutis laxa-leukodystrophy","cutis marmorata telangiectatica congenita (disease)","cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness","Cutler-Bass-Romshe syndrome","CVD1","cvEDS","cyclic agranulocytosis","cyclic hematopoiesis","cyst of bone","cyst of the bone","Cystathionase deficiency","Cystathionine beta-synthase deficiency","Cystathionine beta-synthase-deficient homocystinuria","Cystathionine gamma-lyase deficiency syndrome","cystathioninuria (disease)","cystic fibrosis lung disease, modifier of","Cystic medial necrosis of aorta","cystine storage disease","cystinuria (disease)","cystinuria with mitochondrial disease","Cystinuria-lysinuria syndrome","Cytochrome C oxidase deficiency, French-Canadian type","Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type","Czeizel syndrome","Czeizel-Brooser syndrome","D-2-HGA","D-2-hydroxyglutaric acidemia","D-2-hydroxyglutaric aciduria type 1","D-glycerate kinase deficiency","D-glyceric acidemia","D-HUS","D4ST1-deficient EDS","D4ST1-deficient Ehlers-Danlos syndrome","Da Silva syndrome","DA1","DA2B","Dacryocele","Dacryocystocele","DADA2","Dahlberg syndrome","Daish-Hardman-Lamont syndrome","Dancing eye syndrome","Dancing eye-dancing feet syndrome","Dandy Walker Malformation","Dandy-Walker syndrome","Dandy-Walker syndrome, Isolated cases","Daneman-Davy-Mancer syndrome","Danon disease, X-linked dominant","Darier-Gottron disease","Darier-Roussy sarcoid","Darier-White disease","DAVID syndrome","Davidson disease","Davies disease","Dawson encephalitis","DBA","DBQD","DBS/FOAR syndrome","DC","DCM","DCMA","DCMA syndrome","DCS","DCWHK","DD","DDEB, generalised","DDEB, generalized","DDEB, Pasini and Cockayne-Touraine types","DDEB-gen","DDOD syndrome","DDON syndrome","De Grouchy syndrome type 1","De Grouchy syndrome type 2","De la Chapelle dysplasia","De la Chapelle syndrome","De Morsier syndrome","De Smet-Fabry-Fryns syndrome","De Vaal disease","De Vivo disease","deafness and male infertility","deafness dystonia optic neuronopathy syndrome (DDON)","deafness dystonia syndrome","deafness with goiter","deafness with goitre","deafness, congenital with inner ear agenesis, microtia, and microdontia","deafness, dystonia, and cerebral hypomyelination, X-linked recessive","Deafness-cataract-skeletal anomalies syndrome","deafness-cataracts-skeletal anomalies syndrome","Deafness-dystonia-optic neuronopathy syndrome","Deafness-Hermann type symphalangism syndrome","Deafness-nephritis-ano-rectal malformation syndrome","deafness-onychodystrophy syndrome, autosomal dominant","Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome","Deafness-onychoosteodystrophy-intellectual disability syndrome","Deafness-pili torti-hypogonadism syndrome","Deafness-skeletal dysplasia-coarse face with full lips syndrome","Deafness-skeletal dysplasia-lip granuloma syndrome","DEB pruriginosa","DEB-Pr","DECF","DECR deficiency with hyperlysinemia","dedicator of cytokinesis 8 deficiency","Dedifferentiated thyroid gland carcinoma","dEDS","DEDSSH1","DEE-SWAS","DEE2","DEE36","DEE4","DEE7","DEE73","DEE8","deep fibromatosis","deep fibromatosis/desmoid tumor","deep fibromatosis/desmoid tumour","defective adenosine triphosphate-binding cassette transporter A1","deficiency in Alpa-1-proteinase inhibitor","deficiency of (R)-20-hydroxysteroid dehydrogenase","deficiency of alkaline phosphatase (disorder) [ambiguous]","deficiency of cortisone reductase","deficiency of hydroxymethylglutaryl-CoA lyase","deficiency of IMP pyrophosphorylase","Deficiency of malonyl-CoA decarboxylase","Deficiency of plasma-membrane carnitine transporter","deformity due to amniotic band","Degos genodermatosis","Degos genodermatosis \"en cocardes\"","Del (5)(q35)","Del (5)(qter)","Del(1)(p21.3)","Del(1)(p31p32)","Del(1)(p36)","Del(1)(q21)","Del(1)(q41q42)","Del(1)(q44)","Del(1)p(21.3)","Del(10)(q22.3q23.3)","Del(11)(p13)","Del(11)(q22.2q22.3)","Del(11)(q23.3)","Del(11)(qter)","Del(12)(q14)","Del(13)(q12.3)","Del(13)(q14)","Del(13)(q34)","del(13q14)","Del(14)(q11.2)","Del(14)(q22q23)","Del(14)(q24.1q24.3)","Del(15)(q11.2)","Del(15)(q13.3)","Del(16)(p11.2p12.2)","Del(16)(p13.11)","Del(16)(q24.3)","Del(17)(q11)","Del(17)(q12)","Del(17)(q23.1q23.2)","Del(17)(q24)","Del(19)(p13.12)","Del(19)(p13.13)","Del(19)(q13.11)","Del(2)(p15p16.1)","Del(2)(p21)","Del(2)(q23.1)","Del(2)(q31.1)","Del(2)(q32)","Del(2)(q32q33)","Del(2)(q37)","Del(20)(p12.3)","Del(20)(p13)","Del(20)(q11.2)","Del(20)(q13.33)","Del(21)(q22.11q22.12)","Del(22)","Del(3)(q13)","Del(3)(q29)","Del(3)p(25.3)","Del(4)(q21)","Del(5)(q22) syndrome","Del(6)(p22)","Del(6)(q16)","Del(6)(q25)","Del(6)(q25.2q25.3)","Del(7)(q31)","Del(8)(p11.2)","Del(8)(p23.1)","Del(8)(q21.11)","Del(8)(q24.3)","Del(8)q(13)","Del(9)(p13)","Del(9)(q31.1q31.3)","Del(9)(q33.3q34.11)","Del(X)(p21)","Del(X)(p23)","Del(X)(q21)","Delayed encephalopathy due to CO poisoning","Deletion 10q22.3q23.3","Deletion 10qter","Deletion 11p13","Deletion 12q14","Deletion 13q14","Deletion 13q32","deletion 18p syndrome","Deletion 18q","deletion 18q syndrome","Deletion 1p36","Deletion 1pter","Deletion 22","Deletion 2q37","deletion 2q37-qter","Deletion 5p","Deletion 7q11.23","Deletion 8q21.11","deletion 8q24.1","Deletion 8q24.3","deletion 9p","Deletion 9q33.3q34.11","deletion type 5q35","Delleman syndrome","Delleman-Oorthuys syndrome","Delta cell tumor","Delta cell tumour","Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency","Delta-sarcoglycan-related LGMD R6","Delta-sarcoglycanopathy","delta1-pyrroline-5-carboxylate dehydrogenase deficiency","Dementia infantilis","dementia, frontotemporal","dementia, frontotemporal, with or without parkinsonism","dementia, hereditary multi-infarct type","Dengue","Dengue virus caused disease or disorder","Dengue virus disease or disorder","Dengue virus infection","Dengue virus infectious disease","Dent syndrome","Dentatorubropallidoluysian atrophy","dentinogenesis imperfecta (disease)","Dentinogenesis imperfecta without osteogenesis imperfecta","Denys-Drash syndrome, autosomal dominant, somatic mutation","Der Kaloustian-Jarudi-Khoury syndrome","Der Kaloustian-McIntosh-Silver syndrome","Der(22)t(11;22) syndrome","Der(8)t(8;12)","Dercum disease","dermatofibrosarcoma","dermatopolymyositis","Dermatosparaxis EDS","dermo-odonto dysplasia","DES embryofetopathy","DES syndrome","Desanto-Shinawi syndrome","Desbuquois dysplasia","DESC syndrome","Desert fever","Desert rheumatism","Desmin-related myofibrillar myopathy","desmoid fibromatosis","Desmoid type fibromatosis","Desmoplas. small round cell tumor","Desmoplas. small round cell tumour","Desmoplastic small round cell tumour","Desmoplastic small round-cell neoplasm","DESSH","Destombes-Rosaï-Dorfman disease","DeToni-Debré-Fanconi syndrome","Devastating epileptic encephalopathy in school-aged children","developmental and epileptic encephalopathy 2, X-linked dominant","developmental and epileptic encephalopathy 23","developmental and epileptic encephalopathy 36","developmental and epileptic encephalopathy 4","developmental and epileptic encephalopathy 7","developmental and epileptic encephalopathy 73","developmental and epileptic encephalopathy 8","developmental and epileptic encephalopathy, 2","Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency","developmental delay with short stature, dysmorphic features, and sparse hair 1","developmental delay, intellectual disability, obesity, and dysmorphic features","Developmental delay-epilepsy-neonatal diabetes syndrome","Developmental delay-hypotonia-extremities hypertrophy syndrome","Developmental delay-short stature-dysmorphic features-sparse hair syndrome","Developmental malformations-hearing loss-dystonia syndrome","developmental verbal dyspraxia","Devergie's disease","Devic disease","Devriendt-Vandenberghe-Fryns syndrome","Dexamethasone-sensitive hypertension","dextrocardia (disease)","DF","DFSP","DGI","DGI without OI","DGSX","dHMN with upper motor neuron signs","dHMN5","DHRD","DHS","DI","di Sala syndrome","diabetes insipidus, diabetes mellitus, optic atrophy, and deafness syndrome","Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome","Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome","diabetes mellitus and insipidus with optic atrophy and deafness","diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea","diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhoea","diabetes mellitus, transient neonatal 1","diabetes mellitus, transient neonatal, type 1","Diabetes-hypogonadism-deafness-intellectual disability syndrome","Diabetes-hypogonadism-hearing loss-intellectual disability syndrome","Diabetes-induced teratogenicity","dialysis dysequilibrium syndrome","Dialysis-related amyloidosis","Dialysis-related arthropathy","Diamond-Blackfan anemia syndrome","diaphragmatic hernia-abnormal face-distal limb anomalies syndrome","Diaphragmatic hernia-exomphalos-hypertelorism syndrome","Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome","Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome","Diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome","Diaphyseal dysplasia-anemia syndrome","DIAR5","diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked","Diarrheogenic islet cell tumor","Diarrheogenic islet cell tumour","diarrhoea 2 with microvillus atrophy","Diastematomyelia","Diastrophic dwarfism","DIDMOAD","DIDMOAD syndrome","DIDOD","Diencephalic cachexia","Diencephalic syndrome of childhood","Diencephalic syndrome of emaciation","diencephalic syndrome of infancy","Diethylstilbestrol embryofetopathy","diffuse alveolar haemorrhage (disease)","diffuse alveolar hemorrhage (disease)","diffuse angiokeratoma","diffuse cerebral sclerosis of Schilder","Diffuse cutaneous maculopapulous mastocytosis","diffuse erythrodermic palmoplantar keratoderma, VC6rner type","Diffuse erythrodermic palmoplantar keratoderma, Voerner type","Diffuse erythrodermic palmoplantar keratoderma, Vörner type","Diffuse familial brain sclerosis","Diffuse fasciitis with eosinophilia","diffuse giant cell neoplasm of tendon sheath","diffuse giant cell neoplasm of Tenosynovium","diffuse giant cell neoplasm of the Tenosynovium","diffuse giant cell tumor of tendon sheath","diffuse giant cell tumor of Tenosynovium","diffuse giant cell tumor of the Tenosynovium","diffuse giant cell tumour of tendon sheath","diffuse giant cell tumour of Tenosynovium","diffuse giant cell tumour of the Tenosynovium","diffuse globoid body sclerosis","diffuse hyperplasia of bronchus-associated lymphoid tissue","diffuse idiopathic skeletal hyperostosis","Diffuse malignant peritoneal mesothelioma","Diffuse neonatal hemangiomatosis","diffuse nonepidermolytic palmoplantar keratoderma","Diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome","Diffuse palmoplantar keratoderma, Bothnia type","Diffuse Pulmonary Lymphangiomatosis","diffuse tenosynovial giant cell neoplasm","diffuse tenosynovial giant cell tumor","diffuse tenosynovial giant cell tumour","Diffuse-type GCT","Diffuse-type giant cell tumor","DiGeorge sequence","DiGeorge syndrome","digital fibrous tumor of Reye","digital fibrous tumour of Reye","Digitotalar dysmorphism","digits 2-5 hypodactyly, unilateral","digits 2-5 oligodactyly, unilateral","Dihydropyrimidinase deficiency","dihydrouracil dehydrogenase deficiency","dilated cardiomyopathy 1A","dilated cardiomyopathy 1J","dilated cardiomyopathy type 1A","dilated cardiomyopathy type 1J","dilated cardiomyopathy with wooly hair and keratoderma","DILE","DiMauro disease","dimethylglycine dehydrogenase activity disease","Dionisi-Vici-Sabetta-Gambarara syndrome","diphtamide deficiency syndrome","Diprosopia","Dipygus","DIS","Disaccharide intolerance","Discordant ventriculoarterial and atrioventricular connections","Discordant ventriculoarterial connections","disease, graft-versus-host","disease, graft-vs-host","disease, Tay-Sachs","diseases, graft-versus-host","diseases, graft-vs-host","Disembarkment syndrome","DISH","disintegrative psychosis","disomy Y","disorder of 1-pyrroline-5-carboxylate dehydrogenase activity","disorder of alpha-N-acetylgalactosaminidase activity","disorder of dimethylglycine dehydrogenase activity","disorder of glycine amidinotransferase activity","disorder of guanidinoacetate N-methyltransferase activity","disorder of riboflavin transmembrane transporter activity","Disorder of sex development-intellectual disability syndrome","Disseminated aseptic abscesses","Disseminated lupus erythematosus","distal 13q deletion","distal 17q deletion","distal 3p deletion","Distal 5q deletion","Distal ABD-filaminopathy","Distal anterior compartment myopathy","Distal arthrogryposis multiplex congenita type 2B","Distal arthrogryposis type 2A","Distal arthrogryposis type 2B","Distal arthrogryposis type 3","Distal arthrogryposis type 5","Distal arthrogryposis type 6","Distal arthrogryposis type 7","Distal arthrogryposis type 9","Distal arthrogryposis type IIA","Distal arthrogryposis type IIB","Distal arthrogryposis with ophthalmoplegia","Distal arthrogryposis with peculiar facies and hydronephrosis","Distal del(16)(p11.2)","Distal del(17)(p13.1)","Distal del(22)(q11.2)","Distal del(7)(q11.23)","distal deletion 10q","Distal deletion 11q","distal deletion 12q","Distal deletion 13q34","distal deletion 19p","Distal deletion 19p13.3","distal deletion 1q","Distal deletion 4p","distal deletion 6p","Distal deletion 6p25","Distal deletion 7q36","distal deletion 9p","Distal dup(22)(q11.2)","Distal dup(7)(q11.23)","Distal dup(X)q(28)","distal duplication 14q","distal duplication 17q","distal duplication 18q","distal duplication 5q","distal duplication 6p","distal duplication Xq","Distal hereditary motor neuropathy type V","Distal hereditary motor neuropathy with upper motor neuron signs","Distal HMN V","Distal monosomy 10q","Distal monosomy 11q","Distal monosomy 12q","Distal monosomy 13q","Distal monosomy 15q","Distal monosomy 16p11.2","Distal monosomy 17q","Distal monosomy 19p13.3","Distal monosomy 1q","Distal monosomy 22q11.2","Distal monosomy 3p","Distal monosomy 4p","Distal monosomy 7q11.23","Distal monosomy 9p","distal monosomy type 10q","distal monosomy type 12q","distal monosomy type 13q","distal monosomy type 15q","distal monosomy type 17q","distal monosomy type 1q","distal monosomy type 3p","distal monosomy type 6p","distal monosomy type 7q36","distal monosomy type 9p","distal myopathy caused by mutation in ADSSL1","Distal myopathy type 1","Distal myopathy type 3","distal myopathy with early respiratory muscle involvement","Distal myopathy with rimmed vacuoles","Distal myopathy with vocal cord weakness","Distal myopathy, Nonaka type","Distal myopathy, Udd type","Distal osteolysis-short stature-intellectual disability syndrome","distal renal tubular acidosis (disease)","Distal spinal muscular atrophy type 5","distal symphalangism","distal symphalangism (disease)","Distal titinopathy","Distal trisomy 17q","Distal trisomy 18q","Distal trisomy 22q11.2","Distal trisomy 5q","Distal trisomy 6p","Distal trisomy 7q11.23","distal trisomy type 14q","distal trisomy type 17q","distal trisomy type 18q","distal trisomy type 5q","distal trisomy type 6p","Distal trisomy Xq28","Distilbene embryofetopathy","DK phocomelia syndrome","DK1-congenital disorder of glycosylation","DKC","DKCA5","DKFZp434L132","DLE","DM","DM1","DMDA1","DMDA2","DMG dehydrogenase deficiency","DMRV","DMSD","DNA ligase IV deficiency","DNA ligase IV syndrome","DOA+","Dobrin syndrome","Dol-P-mannosyltransferase deficiency","Dolichol kinase deficiency","Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency","DOLV","Dominant drusen","Dominant hyaloideoretinal dystrophy of Wagner","Dominant KATP hyperinsulinism due to Kir6.2 deficiency","Dominant radial drusen","Donath-Landsteiner hemolytic anaemia","Donath-Landsteiner hemolytic anemia","Donath-Landsteiner syndrome","DOOR syndrome","Doose syndrome","Dopa-responsive dystonia, autosomal recessive","Dopamine transporter deficiency syndrome","Dorfman-Chanarin syndrome","DORV","Double A syndrome","Double discordance","Double inlet atrioventricular connection","Double inlet left ventricle","Double nose","double outlet left ventricle (disease)","double tachycardia induced by catecholamines","Double uterus and obstructed hemivagina syndrome","Double Y","Double Y syndrome","Dowling-Degos disease type 1","Down syndrome, Isolated cases","Doyne honeycomb degeneration of retina","Doyne honeycomb retinal dystrophy","DPG-plus syndrome","DR syndrome","dracontiasis","Dracunculosis","Dracunculus medinensis caused disease or disorder","Dracunculus medinensis disease or disorder","Dracunculus medinensis infectious disease","Drash syndrome","Drayer syndrome","DRD due to SRD","DRESS","DRESS syndrome","DRPLA","DRRS","DRS","dRTA","Drug hypersensitivity syndrome","drug induced lupus","Drug rash with eosinophilia and systemic symptoms","drug reaction eosinophilic systemic syndrome","Drug-induced AIHA","Drug-induced methemoglobinemia","Drummond syndrome","DSD","DSH1","DSRCT","DTDS","DTGA","Du Pan syndrome","Duane anomaly with radial ray abnormalities and deafness","Duane syndrome","Duane-radial ray syndrome","Dubin-Sprinz disease","Duchenne muscular dystrophy, X-linked recessive","Duhring's disease","Duhring-Brocq disease","Dunnigan syndrome","duodenal atresia (disease)","Duodenal Atresia or Stenosis","Dup(1)(q21.1)","Dup(10)(q22.3q23.3)","Dup(11)p(15.4)","Dup(14)(q11.2)","Dup(15)(q11q13)","Dup(16)(p11.2p12.2)","Dup(16)(p13.11)","Dup(17)(p11.2p12)","Dup(17)(p13.3)","Dup(17)(q11.2)","Dup(17)(q12)","Dup(17)(q21.31)","Dup(17p)","dup(19)(p13.13)","Dup(19)(p13.3)","Dup(2)(q23.1)","Dup(20)(q11.2)","Dup(20p)","Dup(22)(q11)","Dup(5)(q35)","Dup(7)(p22.1)","Dup(7)(q11.23)","Dup(7)(q36.3)","Dup(8)(p23.1p23.1)","Dup(8)(q12)","Dup(X)(p11.22p11.23)","Dup(X)(p22)","Dup(X)(p22.13p22.2)","Dup(X)(q12-q13.3)","Dup(X)(q25)","Dup(X)(q27.3q28)","Dup15q","Dup7q11.23D","Duplication 12p","Duplication 18p","Duplication 1q","Duplication 22q11.2","Duplication 4p","Duplication 5p","Duplication 8p","Duplication 8q","Duplication 8q/deletion 8p","Duplication 9p","Duplication of 20p","Duplication of the pituitary gland-plus syndrome","Duplication of the short arm of chromosome 18","Duplication of the short arm of chromosome 4","Duplication of the short arm of chromosome 5","Duplication of the short arm of chromosome 9","Duplication Xp22","Duplication/inversion 15q11","Duplication/inversion type 15q11","Dural sinus malformation with arteriovenous fistulae","Durhing-Brocq disease","DURS","dutch hereditary cerebral amyloid angiopathy","Dutch-Kentucky syndrome","DWM with postaxial polydactyly","Dyggve Melchior Clausen syndrome","Dykes-Markes-Harper syndrome","Dykes-Marks-Harper syndrome","DYPD deficiency","Dysautonomia, Familial","dyschondroplasia","Dyschondroplasia and cavernous hemangioma","dyschromatosis universalis","Dysencephalia splanchnocystica","dyserythropoietic anemia, congenital, type III","Dysferlin-related LGMD R2","dysgnathia complex agnathia-holoprosencephaly","Dysharmonic skeletal maturation - muscular fiber disproportion","Dysharmonic skeletal maturation-muscular fiber disproportion syndrome","Dysharmonic skeletal maturation-muscular fibre disproportion syndrome","Dyskeratosis congenita with bilateral exudative retinopathy","dyskeratosis congenita, autosomal dominant 5","dyskinesia, familial, with facial myokymia","dyskinesia, limb and orofacial, infantile-onset","dyslipidaemia type 3","dyslipidemia type 3","dysmorphic sialidosis","dysmorphic sialidosis with renal involvement","Dysmorphism-multiple structural anomalies syndrome","Dysmorphism-short stature-deafness-disorder of sex development syndrome","Dysmorphism-short stature-deafness-pseudohermaphroditism syndrome","Dysmorphism-short stature-hearing loss-disorder of sex development syndrome","Dysostosis enchondralis metaepiphysaria, Catel-Hempel type","Dysostosis, Stanescu type","Dysplasia epiphysealis capitis femoris","dysplasia, myelocytic periodic","Dysprothrombinemia","Dystonia 12","Dystonia 18","dystonia 21","Dystonia 23","Dystonia 24","Dystonia 25","dystonia 27","dystonia 28, childhood-onset","dystonia 28, childhood-onset; DYT28","Dystonia 29","dystonia 9","Dystonia musculorum deformans","dystonia type 12","dystonia type 16","dystonia type 21","dystonia type 23","dystonia type 24","dystonia type 25","dystonia type 27","dystonia type 9","dystonia with myoclonus","dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities","dystonia-1, torsion","dystonia-17, primary torsion","Dystonia-parkinsonism, Paisan-Ruiz type","dystonia-Parkinsonism, X-linked, X-linked recessive","Dystrophia Helsinglandica","dystrophia myotonica","Dystrophia Smolandiensis","dystrophic epidermolysis bullosa inversa","DYT1","DYT12","DYT16","DYT18","DYT2","DYT23","DYT24","DYT25","DYT28","DYT29","DYT3","DYT4","DYT5a","DYT5b","DYT6","DYT9","DYTOABG","Dündar syndrome","E-beta-thalassemia","E3 trisomy","EA/TEF","EA1","EAF","Eagle-Barret syndrome","early infantile epileptic encephalopathy","early infantile epileptic encephalopathy 4","Early infantile epileptic encephalopathy with suppression-bursts","early myoclonic encephalopathy","early myoclonic encephalopathy with suppression-bursts","early onset lymphedema","early-infantile developmental and epileptic encephalopathy syndrome","Early-onset diabetes mellitus with multiple epiphyseal dysplasia","Early-onset dystonia parkinsonism","Early-onset familial autosomal dominant Alzheimer disease","early-onset generalised torsion dystonia","Early-onset generalized torsion dystonia","Early-onset isolated dystonia","Early-onset Lafora body disease","Early-onset multiple carboxylase deficiency","Early-onset Parkinson disease","Early-onset primary dystonia","Early-onset prion disease with prominent psychiatric features","Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome","early-onset sarcoidosis","Early-onset severe retinal dystrophy","Early-onset torsion dystonia","Early-onset vitelliform macular dystrophy","Eastman-Bixler syndrome","Eaton Lambert syndrome","EB progressive","EBA","EBD inversa","EBJ-I","Ebola","Ebola fever","Ebola virus disease","Ebolavirus caused disease or disorder","Ebolavirus disease or disorder","Ebolavirus infectious disease","EBS with anodontia/hypodontia","EBS with circinate migratory erythema","EBS with mottled pigmentation","EBS with muscular dystrophy","EBS with pyloric atresia","EBS, autosomal recessive K14","EBS, generalised intermediate","EBS, generalised severe","EBS, generalized intermediate","EBS, generalized severe","EBS-loc","EBS-MD","EBS-migr","EBS-MP","EBS-PA","EBSDM","EBSOG","Ebstein anomaly","Ebstein anomaly (disease)","Ebstein anomaly of the tricuspid valve","Ebstein's anomaly (disorder) [ambiguous]","Ebstein's anomaly of tricuspid valve","ECAA","ECCA","eccentro-osteochondrodysplasia","eccentrochondrodysplasia","eccentroosteochondrodysplasia","ECCL","Eccrine tumors-ectodermal dysplasia","Echinococcus multilocularis caused disease or disorder","Echinococcus multilocularis disease or disorder","Echinococcus multilocularis infection","Echinococcus multilocularis infectious disease","Ectasic coloboma","ectodermal dysplasia 1, Anhydrotic","ectodermal dysplasia with skin anomalies and intellectual disability","Ectodermal dysplasia, Berlin type","Ectodermal dysplasia-acanthosis nigricans syndrome","Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome","Ectodermal dysplasia-sensorineural hearing loss syndrome","Ectopia lentis syndrome","Ectopic ACTH secreting tumor","ectopic ACTH secreting tumour","Ectopic Cushing syndrome","Ectopic neurohypophysis","Ectrodactyly","Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate","ectrodactyly polydactyly","Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome","ectrodactyly-ectodermal dysplasia-cleft syndrome","Ectropion inferior-cleft lip and/or palate syndrome","Eczema-thrombocytopenia-immunodeficiency syndrome","EDA-ID","EDM1","EDM4","EDM5","EDMD","EDS III","EDS IV","EDS type 4","EDS V","EDS VI","EDS VII","EDS VIIC","EDS VIII","EDS XI","EDS, arthrogryposic type","EDS, cardiac valvular type","EDS, classic type","EDS, classic-like type","EDS, Kosho type","EDS, musculocontractural type","EDS, myopathic type","EDS-HT","EDS/myopathy overlap syndrome","EDSCLL2","EDSCV","EDSHMB","Edström Myopathy","Edwards syndrome","Edwards-Patton-Dilly syndrome","Edwards-Sethi syndrome","EEC","EEM","EGE","EGPA","EHF","EHK","Ehlers-Danlos syndrome classic type","Ehlers-Danlos syndrome due to tenascin-X deficiency","Ehlers-Danlos syndrome hypermobility type","Ehlers-Danlos syndrome type 11, formerly","Ehlers-Danlos syndrome type 3","Ehlers-Danlos syndrome type 3 (formerly)","Ehlers-Danlos syndrome type 4","Ehlers-Danlos syndrome type 5","Ehlers-Danlos syndrome type 6","Ehlers-Danlos syndrome type 6B","Ehlers-Danlos syndrome type 7","Ehlers-Danlos syndrome type 7C","Ehlers-Danlos syndrome type 8","Ehlers-Danlos syndrome type IV","Ehlers-Danlos syndrome, arthrochalasia type","Ehlers-Danlos syndrome, arthrogryposic type","Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form","Ehlers-Danlos syndrome, classic-like type","Ehlers-Danlos syndrome, classic-like, 1","Ehlers-Danlos syndrome, classic-like, 2","Ehlers-Danlos syndrome, dermatosparaxis type","Ehlers-Danlos syndrome, hypermobile type","Ehlers-Danlos syndrome, Kosho type","Ehlers-Danlos syndrome, myopathic type","Ehlers-Danlos syndrome, periodontitis type","Ehlers-Danlos syndrome, type III","Ehlers-Danlos syndrome, type VII","Ehlers-Danlos syndrome, vascular type","Ehlers-Danlos syndrome, X-linked","Ehrmann-Sneddon syndrome","EI","EIDEE","EIEE","EIEE2","EIEE23","EIEE36","EIEE4","EIEE7","EIEE8","EIMFS","EJM","EKV","Elastomyofibrosis","electron transfer flavoprotein deficiency","Elejalde acrocephalopolydactyly","Elejalde disease","Elejalde neuroectodermal melanolysosomal disease","Elejalde syndrome","Ellis-Yale-Winter syndrome","Elsahy-Waters syndrome","Elsching syndrome","Elschnig syndrome","EMA","EMAS","EMAtS","Embryonic testicular regression syndrome","EME","EMEA","emphysema due to AAT deficiency","Emphysema, Congenital Lobar","emphysema-cirrhosis, due to AAT deficiency","enamel-renal-gingival syndrome","Encephalitis, Herpes Simplex","Encephalitis, Japanese","encephalocraniocutaneous lipomatosis, somatic mosaic","Encephalofacial angiomatosis","Encephalopathy due to GLUT1 deficiency","Encephalopathy due to urocanase deficiency","encephalopathy recurrent of childhood","encephalopathy, acute, infection-induced, 3, susceptibility to","encephalopathy, acute, infection-induced, susceptibility to, type 3","encephalopathy, neonatal severe, X-linked recessive","Encephalopathy-intracerebral calcification-retinal degeneration syndrome","Encephalotrigeminal angiomatosis","encephalotrigeminal syndrome","Enchondromatosis Spranger type I","Enchondromatosis Spranger type II","enchondromatosis with hemangiomata","Endoepithelial corneal dystrophy","Endomyocardial fibroelastosis","Endophthalmitis phacoanaphylactica","endosteal hyperostosis","Enthesitis-related JIA","EOCA","EOCARR","EOFAD","EOPPC","EOS","Eosinophilic cellulitis","Eosinophilic endocarditis","eosinophilic endomyocardial disease","Eosinophilic enteritis","eosinophilic fasciitis (disease)","Eosinophilic gastroenterocolitis","eosinophilic granulomatous Vasculitides","eosinophilic granulomatous vasculitis","Eosinophilic lymphogranuloma","EOSRD","EOTD","ependymoma, benign","Epibronchial right pulmonary vein syndrome","epidemic encephalitis","Epidermal hamartoma syndrome","Epidermal necrolysis","epidermodysplasia verruciformis","epidermolysis bullosa Aquisita","epidermolysis bullosa dystrophica, AD","epidermolysis bullosa dystrophica, AR","epidermolysis bullosa dystrophica, autosomal recessive, modifier of","epidermolysis bullosa junctionalis with pyloric atresia","Epidermolysis bullosa letalis","Epidermolysis bullosa progressiva","epidermolysis bullosa simplex 1A, generalized severe","epidermolysis bullosa simplex 1B, generalized intermediate","epidermolysis bullosa simplex 1C, localized","epidermolysis bullosa simplex 2E, with migratory circinate erythema","epidermolysis bullosa simplex 2F, with mottled pigmentation","epidermolysis bullosa simplex 5A, Ogna type","epidermolysis bullosa simplex 5B, with muscular dystrophy","epidermolysis bullosa simplex 5C, with pyloric atresia","epidermolysis bullosa simplex and limb-girdle muscular dystrophy","Epidermolysis bullosa simplex herpetiformis","Epidermolysis bullosa simplex of palms and soles","epidermolysis bullosa simplex with migratory circinate erythema","epidermolysis bullosa simplex, autosomal recessive type 1","Epidermolysis bullosa simplex, Dowling-Meara type","Epidermolysis bullosa simplex, Koebner type","Epidermolysis bullosa simplex, Köbner type","epidermolysis bullosa simplex, Ogna type","Epidermolysis bullosa simplex, Weber-Cockayne type","epidermolysis bullosa, junctional, with pyloric stenosis","Epidermolytic hyperkeratosis","epidermolytic palmoplantar keratoderma of VC6rner","Epidermolytic palmoplantar keratoderma of Voerner","Epidermolytic palmoplantar keratoderma of Vörner","Epilepsy due to FCD","epilepsy with eyelid myoclonias","Epilepsy with migrating focal seizure in infancy","Epilepsy with myoclonic-astatic seizures","epilepsy, familial focal, with variable foci","epilepsy, generalized, with febrile seizures plus","epilepsy, myoclonic juvenile","epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)","epilepsy, progressive myoclonic 2A (Lafora)","epilepsy, progressive myoclonic 2B (Lafora)","epilepsy, progressive myoclonic 3, with or without intracellular inclusions","epilepsy, progressive myoclonic, 10","epilepsy, progressive myoclonic, type 10","epilepsy, progressive myoclonic, type 5","epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp","Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome","Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome","Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome","Epilepsy-dementia-amelogenesis imperfecta syndrome","Epileptic encephalopathy with continuous spike-and-wave during slow sleep","Epileptic encephalopathy with spike-and wave activation in sleep","epileptic encephalopathy, early infantile","epileptic encephalopathy, early infantile, 2","epileptic encephalopathy, early infantile, 23","epileptic encephalopathy, early infantile, 36","epileptic encephalopathy, early infantile, 4","epileptic encephalopathy, early infantile, 7","epileptic encephalopathy, early infantile, 73","epileptic encephalopathy, early infantile, 8","epileptic encephalopathy, early infantile, type 2","epileptic encephalopathy, early infantile, type 23","epileptic encephalopathy, early infantile, type 4","epileptic encephalopathy, early infantile, type 7","epileptic encephalopathy, early infantile, type 8","epileptic encephalopathy, infantile","epiloia","epimerase deficiency galactosemia","epiphyseal dysplasia, multiple, type 1","epiphyseal dysplasia, multiple, type 4","epiphyseal dysplasia, multiple, type 5","epiphyseal dysplasia, multiple, with microcephaly and retinal dystrophy","Epiphyseal dysplasia-deafness-dysmorphism syndrome","Epiphyseal dysplasia-microcephaly-nystagmus syndrome","epiphyseal stippling syndrome-osteoclastic hyperplasia syndrome","Episkopi blindness","Episodic ataxia type 2","Episodic ataxia type 8","Episodic ataxia with myokymia","Episodic ataxia-vertigo-tinnitus-myokymia syndrome","episodic ataxia/myokymia syndrome","Episodic choreoathetosis/spasticity","Episodic spontaneous hypothermia","Epithelioma calcificans of Malherbe","EPM1","EPM10","EPM2","EPM3","EPM5","EPP","EPPK","Epstein syndrome","ERA","Erdheim disease","ERED","Eroded polypoid hyperplasia","ERS","erythroblastic leukaemia","erythroblastic leukemia","erythrocytosis, familial, 1","erythrocytosis, familial, type 1","erythrocytosis, somatic","Erythrodermic ichthyosis","erythrogenesis imperfecta","Erythrokeratodermia progressiva symmetrica","erythrokeratodermia variabilis 3","erythrokeratodermia variabilis, Kamouraska type","Erythrokeratodermia variabilis, Mendes da Costa type","Erythrokeratodermia with ataxia","Erythrokeratolysis hiemalis","Erythroleukemia","erythropoietic porphyria","ESCC","Escobar syndrome","Escobar variant multiple pterygium syndrome","esophageal adenocarcinoma","Esophageal adenocarcinoma and adenocarcinoma of the esophagogastric junction","Esophageal Atresia and/or Tracheoesophageal Fistula","Esophageal atresia with or without trachea-esophageal fistula","Esophageal epidermoid carcinoma","esophageal scc","esophageal squamous cell cancer","Esophageal squamous cell carcinoma","esophagus adenocarcinoma","esophagus scc","esophagus squamous cell carcinoma","Essential cryoglobulinemia","Essential mixed cryoglobulinemia","Essential pentosuria","essential thrombocytemia","Essential thrombocytosis","ESWS","ET","ETRS","Evans syndrome associated with primary immunodeficiency","EVMPS","Exercise-induced delayed-onset myotonia","Exertional heat stroke","exomphalos","Exomphalos-macroglossia-gigantism syndrome","exostoses, multiple","Expanded spectrum hemifacial microsomia","Expanded spectrum of hemifacial microsomia","Extensive venous malformation","Extra-adrenal aldosterone-producing tumor","Extra-adrenal aldosterone-producing tumour","Extra-ovarian primary peritoneal carcinoma","Extragnathic adamantinoma","Extranodal marginal zone B-cell lymphoma","Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue","Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue","Extrinsic biliary compression syndrome","exudative retinopathy","exudative retinopathy with bone marrow failure","eyebrows and eyelashes absence-intellectual disability syndrome","eyelid elephantiasis","Eyelid myoclonia with and without absences","F syndrome","F5F8D","FA","FAB M3","FAB M6","FACES syndrome","Facial dysmorphism-intellectual disability-short stature-deafness syndrome","Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome","Facial infused lipomatosis","Facio-audio-symphalangism","Facio-digito-genital syndrome, Kuwait type","Facio-genito-popliteal syndrome","Facio-oculo-acoustico-renal syndrome","Facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation","Facio-pharyngo-glosso-masticatory diplegia","facioauriculovertebral dysplasia","Faciocutaneoskeletal syndrome","Faciodigitogenital syndrome","Faciogenital dysplasia","faciooculoacousticorenal syndrome","Facioscapulohumeral muscular dystrophy","Facioscapulohumeral myopathy","factor IX deficiency","factor VIII deficiency","factor XI deficiency, autosomal dominant","factor XI deficiency, autosomal recessive","Factor XII Deficiency","FADS","FADS1","FAHN","FAM126A leukodystrophy","FAME","familial adenomatous polyposis 2","familial adenomatous polyposis 3","familial adenomatous polyposis coli","familial adenomatous polyposis due to del(5)(q22.2)","familial adenomatous polyposis due to monosomy 5q22.2","familial adenomatous polyposis syndrome","familial adenomatous polyposis type 3","familial adenomatous polyposis, type 2","familial adrenal adenoma","Familial Alzheimer disease","Familial amyloid nephropathy","familial amyloid neuropathy","familial amyloid polyneuropathy","Familial amyloid polyneuropathy type IV","Familial amyloidosis, Finnish type","familial aneurysmal subarachnoid haemorrhage","Familial apoA-I deficiency","Familial articular chondrocalcinosis","familial atypical mole melanoma syndrome","Familial atypical mole syndrome","Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome","Familial BAV","Familial benign cervical lipomatosis","Familial benign hypercalcemia","Familial benign hypocalciuric hypercalcemia","Familial benign hypocupremia","Familial berry aneurysm","Familial brain cavernous angioma","familial brain cavernous hemangioma","familial breast and ovarian cancer syndrome","familial cafe-au-lait spots","Familial Calcium Pyrophosphate Deposition Disease","familial calcium pyrophosphate dihydrate deposition disease","Familial CALMs isolated","familial candidiasis","Familial CC","Familial cerebelloretinal angiomatosis","Familial cerebral amyloid angiopathy","Familial cerebral cavernoma","familial chronic mucocutaneous candidiasis","familial Clark nevus syndrome","familial CMC","Familial cold autoinflammatory syndrome","Familial congenital controlateral synkinesia","Familial congenital hypopituitarism","Familial cortical myoclonic tremor and epilepsy","Familial CPPD","Familial diffuse cancer of stomach","Familial diffuse gastric cancer","Familial distal primary acidosis","Familial drusen","familial dysbetalipoproteinemia","Familial dyslipidemia type 3","Familial dysplastic nevus syndrome","Familial ectopia lentis","Familial ectopic ossification","Familial Eosinophilic Cellulitis","familial erythrocytosis","familial erythrocytosis type 1","familial erythrocytosis, 1","familial fibrous dysplasia of the jaws","familial glomangioma","Familial gonadotropin-independent male-limited sexual precocity","Familial Hibernian fever","Familial HLH","Familial hollow visceral myopathy","Familial hyperaldosteronism type 1","Familial hyperaldosteronism type 2","Familial hyperaldosteronism type 3","Familial hypercalcemia-nephrocalcinosis-indicanuria syndrome","Familial hyperestrogenism","Familial hyperkalemic hypertension","Familial hyperkalemic periodic paralysis","familial hyperkalemic periodic paralysis (disorder) [ambiguous]","familial hyperlipoproteinemia type 3","familial hyperphosphatasia","Familial hyperPP","familial hypertrophic cardiomyopathy","familial hypertryptophanemia","Familial hypoalphalipoproteinemia","familial hypotransferrinemia","Familial IBSN","familial idiopathic dilatation of the right atrium (disease)","familial idiopathic nephrotic syndrome","Familial idiopathic steroid-resistant nephrotic syndrome","familial incomplete Male pseudohermaphroditism, type 1","Familial infantile gigantism","Familial infantile striatonigral degeneration","Familial infantile striatonigral necrosis","familial intestinal polyatresia syndrome","Familial intracranial saccular aneurysm","familial isolated arrhythmogenic right ventricular cardiomyopathy","familial isolated arrhythmogenic right ventricular dysplasia","familial isolated arrhythmogenic ventricular cardiomyopathy","familial isolated arrhythmogenic ventricular dysplasia","familial isolated ARVC","familial isolated ARVD","Familial isolated café-au-lait spots","Familial isolated CALSs","familial isolated deficiency of vitamin type E","Familial isolated hypertrophic obstructive cardiomyopathy","Familial isolated hypertrophic subaortic stenosis","Familial isolated prolactin receptor deficiency","Familial isolated vitamin E deficiency","Familial joint instability syndrome","Familial joint laxity","familial leiomyomatosis","Familial leiomyomatosis and renal cell cancer","Familial leiomyomatosis cutis et uteri","Familial leiomyomatosis with renal carcinoma","familial Lenègre disease","familial Lev-Lenègre disease","familial long QT syndrome","familial lupus anticoagulant","familial medullary thyroid carcinoma","familial megaloblastic anaemia","Familial megaloblastic anemia","Familial MNG","familial MTC","familial multilocular cystic disease of the jaws","Familial multinodular goiter syndrome","familial multiple coagulation factor deficiency","Familial multiple cutaneous leiomyomas","Familial multiple lentigines syndrome","Familial multiple port-wine stains","Familial non-immune hyperthyroidism","familial non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)","familial non-syndromic TAAD","Familial non-syndromic thoracic aortic aneurysm and aortic dissection","familial nonmedullary thyroid gland carcinoma","familial opticoacoustic nerve degeneration and polyneuropathy","Familial or idiopathic dilated cardiomyopathy","Familial or idiopathic hypertrophic subaortic stenosis","Familial or idiopathic restrictive cardiomyopathy","Familial osteoectasia","Familial osteonecrosis of the femoral head","Familial pancreatic cancer","familial paroxysmal kinesigenic ataxia and continuous myokymia","Familial paroxysmal kinesigenic dyskinesia","Familial paroxysmal polyserositis","Familial partial epilepsy with variable foci","Familial partial lipodystrophy type 1","Familial partial lipodystrophy type 2","Familial partial lipodystrophy type 3","Familial pelvis-scapular dysplasia","familial periodic paralysis (& [hypokalaemic])","Familial pheochromocytoma-paraganglioma","Familial PKD","familial polyposis","Familial polyposis coli","familial polyposis coli due to monosomy 5q22.2","familial progressive heart block","Familial pure nonmedullary thyroid carcinoma","familial pyrimidinaemia","Familial pyrimidinemia","Familial rectal pain","Familial recurrent arthritis","Familial renal amyloidosis","Familial renal glycosuria","Familial renal hypouricemia","Familial scaphocephaly-radioulnar synostosis syndrome","Familial startle disease","Familial streblodactyly with amino-aciduria","Familial TAAD","Familial thrombocythemia","Familial transthyretin-related amyloidosis","Familial trembling of the chin","Familial TTR-related amyloidosis","Familial vocal cord dysfunction","Familial woolly hair syndrome","Familial wooly hair syndrome","Familila or idiopathic hypertrophic obstructive cardiomyopathy","famililal cerebral cavernous malformations","FAMM syndrome","FAMM-PC syndrome","FAMMM syndrome","Fanconi pancytopenia","Fanconi syndrome with intestinal malabsorption and galactose intolerance","Fanconi-Bickel disease","FAP","FAP due to monosomy 5q22.2","FAP2","FAP3","Fara-Chlupackova syndrome","Farber lipogranulomatosis","FAS","FASD","Fatty acid alcohol oxidoreductase deficiency","fatty acyl-CoA reductase 1 disorder","fatty acyl-CoA reductase 1 disorder or fatty acyl-CoA reductase 1 deficiency","fatty liver, acute, of pregnancy","Faulk-Epstein-Jones syndrome","Fazio-Londe syndrome","FBH","FBHH","FBPase deficiency","FBS","FCAS","FCCTX","FCMD","FCMTE","FCS syndrome","FCU","FD","FDFM","FDGC","Febrile Infection-Related Epilepsy Syndrome (FIRES)","FECD","Fechtner syndrome","Fehr corneal dystrophy","Feigenbaum-Bergeron-Richardson syndrome","Fellman disease","female pseudohermaphroditism-anorectal anomalies syndrome","female pseudohermaphroditism-skeletal anomalies syndrome","Femoral hypoplasia-unusual facies syndrome","Femur-fibula-ulna dysostosis","Femur-fibula-ulna syndrome","Fenestrae parietales symmetricae","Fenton-Wilkinson-Toselano syndrome","FEOM","Ferlini-Ragno-Calzolari syndrome","Ferritin-related neurodegeneration","Fetal acitretin/etretinate syndrome","Fetal alcohol spectrum disorders","Fetal aminopterin syndrome","Fetal anasarca","Fetal cocaine syndrome","fetal Coumadin syndrome","Fetal dihydantoin syndrome","Fetal face syndrome","Fetal hydrops","Fetal indomethacin syndrome","fetal isotretinoin syndrome","Fetal methylmercury poisoning","Fetal Retinoid Syndrome","Fetal rubella syndrome","Fetal thalidomide syndrome","Fetal valproate syndrome","Fetal valproic acid syndrome","fetal warfarin syndrome","Fetomaternal alloimmunization with antenatal glomerulopathies","Fever-induced refractory epileptic encephalopathy in school-aged children","FEVR","FEWER digits","FFEVF","FFI","FFS","FFU complex","FG syndrome 1","FGLDS","FH-I","FH-II","FH-III","FH1","FH2","FH3","FHF","FHH","FHI","FHS","FHUFS","Fibrin-stabilizing factor deficiency","Fibroadipose infiltrating lipomatosis","fibrofolliculomas with trichodiscomas and acrochordons","fibroma of ovary","fibroma of the ovary","fibrosis of extraocular muscles, congenital","fibrosis of extraocular muscles, congenital, type 1","fibrous histiocytoma, malignant","fibrous histiocytoma, malignant (morphologic abnormality)","fibroxanthosarcoma","fibroxanthosarcoma (morphologic abnormality)","Fibular aplasia-tibial campomelia-oligosyndactyly syndrome","fibular hypoplasia and complex brachydactyly","fibular longitudinal meromelia","Fiebre mediterránea familiar","Fiessinger-Leroy disease","Fiessinger-Leroy-Reiter syndrome","fievre boutonneuse","FIHP","FIHPT","Filamin A-related X-linked myxomatous valvular dysplasia","Filamin C-related filaminopathy","Fine-Lubinsky syndrome","Finkel disease","Finlay-Marks syndrome","Finnish congenital nephrosis","Finnish tibial muscular dystrophy","Finnish upper limb-onset distal myopathy","Finucane-Kurtz-Scott syndrome","FIPA","FIRES","first branchial arch syndrome","Fisher syndrome","Fishman syndrome","Fistulous vegetative verrucous hydradenoma","Fitzsimmons-McLachlan-Gilbert syndrome","Fitzsimmons-Walson-Mellor syndrome","Flegel disease","Florid osseous dysplasia","FLP","Fluctuating myotonia","FMAIG","FMF","FMNG","FMPP","FNAIT","FNMTC","Foamy myocardial transformation of infancy","FOAR syndrome","Focal cemento-osseous dysplasia","focal dermal hypoplasia, X-linked dominant","Focal nodular myositis","Focal palmoplantar and gingival hyperkeratosis","focal segmental glomerulosclerosis 10","foetal acitretin/etretinate syndrome","foetal aminopterin syndrome","foetal anasarca","foetal circulation","foetal cocaine syndrome","foetal Coumadin syndrome","foetal dihydantoin syndrome","foetal face syndrome","foetal hydrops","foetal indomethacin syndrome","foetal isotretinoin syndrome","foetal retinoid syndrome","foetal rubella syndrome","foetal thalidomide syndrome","foetal warfarin syndrome","follicle center lymphoma","follicle centre lymphoma","Follicular atrophoderma and basal cell carcinomas","follicular center cell lymphoma","follicular centre cell lymphoma","Follicular dyskeratoma","Follicular lichen planus","follicular non-Hodgkin lymphoma","follicular stimulating hormone-resistant ovaries","Folliculitis ulerythematosa reticulate","Fong disease","Foot contractures-muscle atrophy-oculomotor apraxia syndrome","FOP","Foramina parietalia permagna","Forbes disease","Forestier's disease","Formiminotransferase cyclodeaminase deficiency","Forney syndrome","Forney-Robinson-Pascoe syndrome","Forsius-Eriksson syndrome","Forsius-Eriksson type ocular albinism","FOSMN syndrome","Fowler syndrome","Fowler-Christmas-Chapple syndrome","FOXG1-related epileptic-dyskinetic encephalopathy","FOXP2-associated dysphasia","FPLD1","FPLD2","FPLD3","FPLD4","FPLD5","FPLD6","FRA","fragile X intellectual disability syndrome","Fragile X syndrome, X-linked dominant","Fragile X tremor/ataxia syndrome, X-linked dominant","Fragoso-Cantú syndrome","Franceschetti-Klein syndrome","Francisella tularensis caused disease or disorder","Francisella tularensis disease or disorder","Francisella tularensis infectious disease","Franek-Bocker-Kahlen syndrome","François dyscephalic syndrome","François syndrome","Frasier syndrome, autosomal dominant, somatic mutation","FraX syndrome","FRAXA syndrome","FRDA","Free sialic acid storage disorder","Freeman-Burian syndrome","Freeman-Sheldon syndrome variant","Freiberg disease","Freiberg infraction","Freire Maia-Pinheiro-Opitz syndrome","Frias syndrome","Fried-Goldberg-Mundel syndrome","Friedman-Goodman syndrome","Friedreich-like ataxia","frints de Smet Fabry Fryns syndrome","Frontonasal dysplasia type 1","Frontonasal dysplasia type 2","Frontonasal dysplasia type 3","Frontonasal dysplasia with alopecia and genital abnomality","frontotemporal dementia with ALS","Frontotemporal dementia with amyotrophic lateral sclerosis","Froster-Huch syndrome","Froster-Iskenius-Waterson-Hall syndrome","Fructokinase deficiency","Fructosaemia","fructose intolerance","Fructose Intolerance, Hereditary","fructose-1,6-bisphosphate aldolase B deficiency","Fructose-1,6-diphosphatase deficiency","fructosemia","fructosuria, essential","Frydman-Cohen-Karmon syndrome","Fryns macrocephaly","Fryns microphthalmia syndrome","Fryns-Hofkens-Fabry syndrome","FS","FSASD","FSH dystrophy","FSH-RO","FSHD","FSP1","FSP3","FTAAD","FTD-ALS","FTD-MND","FTDALS","FTNS","Fuchs endothelial dystrophy","Fuchs heterochromic cyclitis","Fuchs heterochromic uveitis","Fukuhara syndrome","Fukuyama congenital muscular dystrophy","Fukuyama Type Congenital Muscular Dystrophy","Full neurofibromatosis type 2","Full neurofibromatosis type 3","Full NF3","Full SWN","Fulminant hepatic failure","Fumarase deficiency","Fumarylacetoacetase deficiency","Fumarylacetoacetate hydrolase deficiency","Functional methionine synthase deficiency","Functioning pituitary gonadotropic adenoma","functionless adenoma of pituitary","functionless adenoma of pituitary gland","functionless adenoma of the pituitary","functionless adenoma of the pituitary gland","functionless pituitary adenoma","functionless pituitary gland adenoma","Fundus flavimaculatus","Furukawa-Takagi-Nakao syndrome","Fusarium caused disease or disorder","Fusarium disease or disorder","Fusarium infection","Fusarium infectious disease","FV and FVIII combined deficiency","FXS","FXTAS syndrome","FZD6 inherited isolated nail anomaly","G6P deficiency","GA1","GABA aminotransferase deficiency","GABA transaminase deficiency","GACR","GALAC4","Galactocerebrosidase deficiency","Galactokinase deficiency galactosemia","galactokinase deficiency with cataracts","Galactose epimerase deficiency galactosemia","Galactose mutarotase deficiency galactosemia","galactose-1-phosphate uridyltransferase deficiency","GALACTOSEMIA IV","galactosemia type 1","Galactosemia type 2","Galactosemia type 3","Galactosemia type 4","Galactosemia type II","Galactosemia type III","Galactosemia type IV","Galactosylceramidase deficiency","galactosylceramide lipidosis","GALK deficiency","GALK deficiency galactosemia","GALK-D","gallbladder disease 1","gallbladder disease type 1","gallbladder NET","gallbladder neuroendocrine tumour","gallbladder well differentiated endocrine tumor","gallbladder well differentiated endocrine tumor/carcinoma","gallbladder well differentiated endocrine tumour","Galloway syndrome","Gamborg-Nielsen syndrome","Game-Friedman-Paradice syndrome","Gamma-cystathionase deficiency","Gamma-glutamyl transferase deficiency","Gamma-glutamylcysteine synthetase deficiency","gamma-glutamylcysteine synthetase deficiency, hemolytic anaemia due to","gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to","Gamma-hydroxybutyric aciduria","Gamma-sarcoglycan-related LGMD R5","Gamma-sarcoglycanopathy","Gamstorp disease","Gamstorp episodic adynamy","Gamstorp-Wohlfart syndrome","GAND syndrome","ganglioneuroma (disease)","ganglioneuroma (Schwannian Stroma-dominant)","ganglioneuroma, benign","gangliosidosis GM1","Garcia-Lurie syndrome","Gardner-Diamond syndrome","Gardner-Silengo-Wachtel syndrome","Gass disease","gastric Cronkhite Canada polyposis","Gastric intrinsic factor deficiency","Gastric NET","gastric neuroendocrine neoplasm","Gastric neuroendocrine tumor","Gastrinoma","Gastrointestinal polyposis-ectodermal changes syndrome","gastrointestinal stromal neoplasm","Gastrointestinal stromal sarcoma","gastrointestinal stromal tumor (gist)","gastrointestinal stromal tumor, familial, isolated cases","gastrointestinal stromal tumor, isolated cases","Gastrointestinal Stromal Tumors","gastrointestinal stromal tumour (gist)","GATA binding protein 2 deficiency spectrum","Gaucher syndrome","GBD1","GBM","GBM (glioblastoma)","GBS, acute inflammatory demyelinating polyradiculoneuropathic form","GCD1","GCD2","GCDHD","GCDI","GCDII","GCL","GCPS","GDCD","GDD","GDE deficiency","GDH hyperinsulinism","GDS","GEFS+","GEKA","Gelatinous ascites","Geleophysic dwarfism","Gelineau syndrome","Gelsolin amyloidosis","GEMSS","GEMSS syndrome","generalised arterial calcification of infancy","generalised atrophic benign epidermolysis bullosa","generalised cervical and upper-limb-onset dystonia","generalised congenital lipodystrophy","generalised EBS, non-Dowling-Meara type","generalised epidermolysis bullosa simplex, non-Dowling-Meara type","generalised epilepsy with febrile seizures-plus","generalised eruptive histiocytoma","generalised eruptive keratoacanthomas of Grzybowski","generalised foetal oedema","generalised glycogenosis","generalised haematopoietic hypoplasia","generalised junctional epidermolysis bullosa, non-Herlitz type","generalised lentiginosis","generalised lichenoid papular eruption","generalised mitis RDEB","generalised papular and sclerodermoid lichen myxedematosus","generalised severe epidermolysis bullosa simplex","Generalized atrophic benign epidermolysis bullosa","Generalized cervical and upper-limb-onset dystonia","generalized congenital lipodystrophy","Generalized DDEB","generalized EBS, non-Dowling-Meara type","generalized epidermolysis bullosa simplex, non-Dowling-Meara type","Generalized epilepsy with febrile seizures plus","Generalized eruptive histiocytoma","Generalized eruptive keratoacanthomas of Grzybowski","Generalized fetal edema","generalized hematopoietic hypoplasia","Generalized junctional epidermolysis bullosa, non-Herlitz type","Generalized lichenoid papular eruption","generalized mitis RDEB","Generalized papular and sclerodermoid lichen myxedematosus","Generalized RDEB, intermediate form","Generalized RDEB, severe form","genetic epilepsy with febrile seizures plus","Genetic FSGS","genetic hemophagocytic lymphohistiocytosis","genetic hemophagocytic syndrome","genetic hypopituitarism","genetic nodular heterotopia","Genetic panhypopituitarism","Genetic SRNS","genetic sucrase-isomaltose malabsorption","Genoa syndrome","Genuine diffuse phlebectasia","GEPD","Gerbode defect","Gerhardt syndrome","German type amyloidosis","Gershoni-Baruch-Leibo syndrome","Gerstmann-Straussler-Scheinker disease","gestational choriocarcinoma (morphologic abnormality)","Gestational pemphigoid","GFND","GGM","GH and PRL cosecreting pituitary adenoma","GH receptor deficiency","Ghosal syndrome","Ghost teeth","Ghrelin receptor deficiency","giant axonal neuropathy 1","giant axonal neuropathy type 1","Giant cell chondrodysplasia","Giant cell histiocytomatosis","Giant Congenital Melanocytic Nevus","giant congenital nevus","Giant hypertrophic gastritis","giant lymph node hyperplasia","giant pigmented hairy nevus","giant pigmented nevus of skin","giant pigmented nevus of the skin","giant platelet disorder, isolated","Giant platelet syndrome","giant platelet syndrome with thrombocytopenia","Gillespie syndrome","Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome","Gingival fibromatosis-progressive hearing loss syndrome","gingival Hypertrophy with corneal dystrophy","Gingival hypertrophy-corneal dystrophy","GIST","GIST-paraganglioma dyad","Giuffré-Tsukahara syndrome","Glass bone disease","glass syndrome","glass-chapman-hockley syndrome","glaucoma (disease) of childhood","glaucoma 3, primary congenital, type a","glaucoma 3A, primary open angle, congenital, juvenile, or adult onset","glaucoma of childhood","glaucoma, ectopia, microspherophakia, Stiff joints and short stature syndrome","glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome","glioblastoma (disease)","Glioblastoma multiforme","glioblastoma multiforme (disease)","glioma of optic tract","glioma of the optic tract","glioma of the visual pathway","glioma of visual pathway","GLNH","Globodontia","Globoid cell leukodystrophy","globoid cell leukoencephalopathy","Glomangiomatosis","Glomerulopathy with fibronectin deposits","glossopharyngeal nerve neuralgia","Glossovasopharyngeal neuralgia","GLSP","Glucagonoma syndrome","Glucocerebrosidase deficiency","glucocerebrosidosis","Glucocorticoid-remediable aldosteronism","Glucocorticoid-sensitive hypertension","Glucokinase-related hyperinsulinemic hypoglycemia","glucose transporter type 1 deficiency","Glucose Transporter Type 1 Deficiency Syndrome","Glucose-6-phosphate isomerase deficiency","glucosephosphate isomerase deficiency","Glucosidase 1 deficiency","glucosylceramidase deficiency","glucosylceramide beta-glucosidase deficiency","Glucosyltransferase 1 deficiency","Glucosyltransferase 2 deficiency","glut-1 deficiency syndrome","GLUT1 deficiency syndrome 1, infantile onset, severe","GLUT1 deficiency syndrome 2, childhood onset","GLUT1 deficiency syndrome type 1","GLUT1 deficiency syndrome type 2","GLUT1-DS","glutamate dehydrogenase 1 hyperinsulinism","Glutamate formiminotransferase deficiency","glutamate pyruvate transaminase 2 deficiency","Glutamate-aspartate transport defect","Glutaric acidemia type 1","Glutaric acidemia type 2","glutaric acidemia type II","Glutaric aciduria type 1","Glutaric aciduria type 2","Glutaric aciduria type 3","Glutaric Aciduria Type II","glutaricaciduria, type I","Glutaryl-CoA oxidase deficiency","Glutaryl-coenzyme A dehydrogenase deficiency","glutathioninuria","Glutathionuria","Glycerol kinase deficiency-contiguous gene syndrome","glycine amidinotransferase activity disease","GLYCINEMIA, ketotic","glycogen storage disease 9B","Glycogen storage disease due to G6P deficiency","Glycogen storage disease due to GLUT2 deficiency","glycogen storage disease due to glycogen synthase deficiency of heart","glycogen storage disease due to glycogen synthase deficiency of liver","Glycogen storage disease due to LAMP-2 deficiency","Glycogen storage disease due to liver glycogen synthase deficiency","Glycogen storage disease due to phosphoglycerate mutase 2 deficiency","glycogen storage disease I","glycogen storage disease II","glycogen storage disease III","glycogen storage disease IXb","Glycogen storage disease type 0a","Glycogen storage disease type 0b","Glycogen storage disease type 1","Glycogen storage disease type 12","glycogen storage disease type 13","Glycogen storage disease type 15","Glycogen storage disease type 2","Glycogen storage disease type 3","Glycogen storage disease type 4","Glycogen storage disease type 5","Glycogen storage disease type 6","Glycogen storage disease type 7","Glycogen storage disease type 9A","Glycogen storage disease type 9B","Glycogen storage disease type 9C","Glycogen storage disease type 9D","Glycogen storage disease type 9E","Glycogen storage disease type I","Glycogen storage disease type II","Glycogen storage disease type III","Glycogen storage disease type IV","Glycogen storage disease type IXa","Glycogen storage disease type IXb","Glycogen storage disease type IXc","Glycogen storage disease type IXd","Glycogen storage disease type IXe","Glycogen storage disease type V","Glycogen storage disease type VI","Glycogen storage disease type VII","Glycogen storage disease type XII","Glycogen storage disease type XV","glycogen storage disease V","glycogen storage disease VI","glycogen storage disease VII","glycogen storage disease XV","Glycogen storage disease, type 10","Glycogen storage disease, type 2B","Glycogen storage disease, type IIb","Glycogen storage disease, type X","glycogen synthase deficiency","Glycogenosis due to acid maltase deficiency","Glycogenosis due to aldolase A deficiency","Glycogenosis due to GLUT2 deficiency","Glycogenosis due to glycogen branching enzyme deficiency","Glycogenosis due to glycogen debranching enzyme deficiency","Glycogenosis due to lactate dehydrogenase deficiency","Glycogenosis due to LAMP-2 deficiency","Glycogenosis due to liver and muscle phosphorylase kinase deficiency","Glycogenosis due to liver glycogen phosphorylase deficiency","Glycogenosis due to liver phosphorylase kinase deficiency","Glycogenosis due to muscle and heart glycogen synthase deficiency","Glycogenosis due to muscle beta-enolase deficiency","Glycogenosis due to muscle glycogen phosphorylase deficiency","Glycogenosis due to muscle phosphofructokinase deficiency","Glycogenosis due to muscle phosphorylase kinase deficiency","Glycogenosis due to phosphoglycerate kinase 1 deficiency","Glycogenosis due to phosphoglycerate mutase 2 deficiency","glycogenosis due to phosphoglycerate mutase deficiency","Glycogenosis type 0a","Glycogenosis type 0b","Glycogenosis type 1","Glycogenosis type 12","Glycogenosis type 13","Glycogenosis type 15","Glycogenosis type 2","Glycogenosis type 3","Glycogenosis type 4","Glycogenosis type 5","Glycogenosis type 6","Glycogenosis type 7","Glycogenosis type 9A","Glycogenosis type 9B","Glycogenosis type 9C","Glycogenosis type 9D","Glycogenosis type 9E","Glycogenosis type I","Glycogenosis type II","Glycogenosis type III","Glycogenosis type IV","Glycogenosis type IXa","Glycogenosis type IXb","Glycogenosis type IXc","Glycogenosis type IXd","Glycogenosis type IXe","Glycogenosis type V","Glycogenosis type VI","Glycogenosis type VII","Glycogenosis type XII","Glycogenosis type XV","Glycogenosis with severe cardiomyopathy due to glycogenin deficiency","glycosylasparaginase deficiency","glycosylphosphatidylinositol biosynthesis defect 13","glycosylphosphatidylinositol biosynthesis defect 15","GM2 gangliosidosis 0 variant","GM2 gangliosidosis, B, B1 variant","GM2 gangliosidosis, hexosaminidase A deficiency variant","GM2 gangliosidosis, Tay-Sachs variant","GM2 synthase deficiency","GM2-gangliosidosis, several forms","GM>1< gangliosidosis","GNET","goiter, multinodular 1, with or without Sertoli-Leydig cell tumors","goiter, nontoxic, with Intrathyroidal calcification","Goiter-deafness syndrome","Goiter-hearing loss syndrome","Golabi-Ito-Hall syndrome","Golabi-Rosen syndrome","Goldberg syndrome","Goldberg-Shprintzen syndrome","Goldblatt chondrodysplasia","Goldblatt syndrome","Goldblatt-Wallis syndrome","Goldenhar disease","Goldenhar syndrome","Goldston syndrome","Gollop syndrome","Goltz syndrome","Goltz-Gorlin syndrome","gonadoblastoma of ovary","Gonadotroph adenoma","gonadotropin-independent female-limited sexual precocity","Goniodysgenesis-intellectual disability-short stature syndrome","Gonzales-del Angel syndrome","Good syndrome","Goodpasture Syndrome","Goossens-Devriendt syndrome","Gordon hyperkalemia-hypertension syndrome","Gordon-Holmes syndrome","Gorham disease","Gorham syndrome","Gorlin-Goltz syndrome","GOSHS","Gottron syndrome","gout, PRPS-related, X-linked recessive","GPA","GPIBD13","GPP","GPS","GRA","grade IV astrocytic neoplasm","grade IV astrocytic tumor","grade IV astrocytic tumour","grade IV astrocytoma","graft vs host disease","Graham Little syndrome","Graham-Boyle-Troxell syndrome","Graham-Cox syndrome","Grange occlusive arterial syndrome","Granular corneal dystrophy type 1","Granular corneal dystrophy type 2","Granular-lattice corneal dystrophy","granulomatoses, allergic","granulomatosis - Wegener's","granulomatosis, allergic","granulomatosis, familial juvenile systemic","granulomatosis, familial, Blau type","granulomatous allergic Angiitides","Granulomatous allergic angiitis","granulomatous angiitides, allergic","granulomatous angiitis, allergic","granulomatous inflammatory arthritis, dermatitis, and uveitis, familial","granulomatous vasculitides, eosinophilic","granulomatous vasculitis, eosinophilic","Gravidic intrahepatic cholestasis","GREBE chondrodysplasia","Grebe dysplasia","Green monkey disease","Greig cephalosyndactyly syndrome","Greig's syndrome","Greither disease","GRF tumor","GRF tumour","GRIDHH","Grisart-Destrée syndrome","Griscelli-Pruniéras syndrome","Groll-Hirschowitz syndrome","Gronblad-Strandberg syndrome","Gronblad-Strandberg-Touraine syndrome","Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome","Growth delay-deafness-intellectual disability syndrome","Growth delay-hearing loss-intellectual disability syndrome","Growth hormone and prolactin cosecreting pituitary adenoma","Growth Hormone Insensitivity","growth hormone insensitivity due to postreceptor defect","Growth hormone receptor deficiency","Growth hormone releasing factor tumor","Growth hormone releasing factor tumour","Grzybowski syndrome","GSD due to acid maltase deficiency","GSD due to aldolase A deficiency","GSD due to G6P deficiency","GSD due to GLUT2 deficiency","GSD due to glycogen branching enzyme deficiency","GSD due to glycogen debranching enzyme deficiency","GSD due to hepatic glycogen synthase deficiency","GSD due to lactate dehydrogenase deficiency","GSD due to LAMP-2 deficiency","GSD due to liver and muscle phosphorylase kinase deficiency","GSD due to liver glycogen phosphorylase deficiency","GSD due to liver phosphorylase kinase deficiency","GSD due to muscle and heart glycogen synthase deficiency","GSD due to muscle beta-enolase deficiency","GSD due to muscle glycogen phosphorylase deficiency","GSD due to muscle phosphofructokinase deficiency","GSD due to muscle phosphorylase kinase deficiency","GSD due to phosphoglycerate kinase 1 deficiency","GSD due to phosphoglycerate mutase 2 deficiency","GSD due to phosphoglycerate mutase deficiency","GSD IXb","GSD IXd","GSD type 0a","GSD type 0b","GSD type 1","GSD type 10","GSD type 12","GSD type 15","GSD type 2","GSD type 3","GSD type 4","GSD type 5","GSD type 6","GSD type 7","GSD type 9A","GSD type 9B","GSD type 9C","GSD type 9D","GSD type 9E","GSD type I","GSD type II","GSD type IV","GSD type IXa","GSD type IXb","GSD type IXc","GSD type IXd","GSD type IXe","GSD type V","GSD type VI","GSD type VII","GSD type XII","GSD type XV","GSD with severe cardiomyopathy due to glycogenin deficiency","GSD, type 2B","GSD, type IIb","GSD1","GSD9B","GSD9D","GSDIII","GSDVII","GSDXIII","GSSD","GTPCH1-deficient dopa-responsive dystonia","GTPCH1-deficient DRD","guanidinoacetate N-methyltransferase activity disease","Guibaud-Vainsel syndrome","Guillain Barre syndrome, Miller Fisher variant","Guinea worm disease","Gurrieri-Sammito-Bellussi syndrome","Gustavson syndrome","Guízar Vázquez-Luengas-Muñoz syndrome","Guízar Vázquez-Sánchez-Manzano syndrome","GVH","GvHD","gynecomastia, familial, due to increased aromatase activity","gynecomastia, hereditary","gyrate atrophy","gyrate atrophy of choroid and retina with or without ornithinemia","Gélineau disease","Günther disease","H-SMD","H-type tracheoesophageal fistula","Haberland syndrome","HAE with C1 inhibitor deficiency","HAE with C1Inh deficiency","HAE with normal C1 inhibitor","HAE with normal C1Inh","haemangiectatic hypertrophy","Haemoglobin Bart's disease","Haemoglobin Bart's hydrops fetalis","Haemoglobin S disease without crisis","haemophilia a, X-linked recessive","haemophilia b, X-linked recessive","haemophilia C","haemophilia type A","haemophilia type B","Hageman Factor deficiency","hairy elbows","Hairy elbows syndrome","Hal-Berg-Rudolph syndrome","Halal syndrome","Halal-Setton-Wang syndrome","Halasz syndrome","Hall-Hittner syndrome","Hallermann syndrome","Hallervorden-Spatz disease","Hallervorden-Spatz syndrome","HAM syndrome","Hamanishi-Ueba-Tsuji syndrome","Hamartomatous intestinal polyposis","Hamman-Rich syndrome","HANAC","Hand and foot deformity-flat facies syndrome","Hand-foot-uterus syndrome","Hanhart syndrome","Hanot syndrome","Hansen disease","Hantavirosis","Hantavirus fever","Hapnes-Boman-Skeie syndrome","Happle syndrome","Harada's disease","Harboyan syndrome","Hard skin syndrome, Parana type","HARD syndrome","Harding ataxia","Harel-Yoon syndrome","Harel-Yoon syndrome; HAYOS","HARS Charcot-Marie-Tooth disease type 2","Hartnup disorder","Hartsfield-Bixler-Demyer syndrome","HAS","Hashimoto encephalitis","Hashimoto Encephalopathy","Haspeslagh-Fryns-Muelenaere syndrome","HAT","hATTR","haw River syndrome","Hay-Wells syndrome","HAYOS","Hb Bart's hydrops fetalis syndrome","Hb-S/Hb-C disease","HbC-beta-thalassemia syndrome","HbE-beta-thalassemia syndrome","HBHF","HCHWA","HCS","HD","HD-HA syndrome","HDGC","HDKR","HDL1","HDL2","HDL3","HDL4","HDR syndrome","HDV","HE","Hearing loss with labyrinthine aplasia, microtia, and microdontia","Hearing loss-craniofacial syndrome","Hearing loss-dystonia-optic neuronopathy syndrome","Hearing loss-ear malformation-facial palsy syndrome","Hearing loss-enamel hypoplasia-nail defects syndrome","Hearing loss-epiphyseal dysplasia-short stature syndrome","Hearing loss-genital anomalies-metacarpal and metatarsal synostosis syndrome","Hearing loss-Hermann type symphalangism syndrome","Hearing loss-hypogonadism syndrome","Hearing loss-infertility syndrome","Hearing loss-intellectual disability syndrome, Martin-Probst type","Hearing loss-nephritis-ano-rectal malformation syndrome","Hearing loss-oligodontia syndrome","Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome","Hearing loss-onychoosteodystrophy-intellectual disability syndrome","Hearing loss-pili torti-hypogonadism syndrome","Hearing loss-skeletal dysplasia-coarse face with full lips syndrome","Hearing loss-skeletal dysplasia-lip granuloma syndrome","Hearing loss-small bowel diverticulosis-neuropathy syndrome","Hearing loss-vitiligo-achalasia syndrome","heart defect and limb shortening syndrome","heart glycogen storage disease due to glycogen synthase deficiency","Heart-hand syndrome type 1","Heavy chain amyloidosis","Hecht syndrome","Hecht-Beals syndrome","Hecht-Scott syndrome","HED","HED-ID","HEDH syndrome","hEDS","Heimler syndrome","Heller syndrome","HELLP syndrome, maternal, of pregnancy","HEM dysplasia","hemangiomata with Dyschondroplasia","hemangiomatous branchial clefts-Lip Pseudocleft syndrome","hematopoeitic - chronic myelocytic leukaemia (CML)","hematopoeitic - chronic myelocytic leukemia (CML)","Hemi 3 syndrome","Hemicorporal hypertrophy","Hemifacial atrophy","Hemifacial hyperplasia-strabismus syndrome","Hemifacial hypertrophy","hemifacial microsomia","Hemifacial microsomia-radial defects syndrome","hemihypertrophy","hemiplegia, infantile, with porencephaly","Hemiplegic Migraine","Hemitruncus arteriosus","Hemochromatosis type 2","hemochromatosis type 3","Hemoglobin Bart's disease","Hemoglobin Bart's hydrops fetalis","Hemolysis, elevated liver enzymes, low platelets in pregnancy","hemolysis-elevated liver enzymes-low platelet count syndrome","Hemolysis-elevated liver enzymes-low platelets syndrome","hemolytic anaemia due to gamma-glutamylcysteine synthetase deficiency","hemolytic anaemia due to pyruvate Kinase deficiency","hemolytic anaemia due to red cell pyruvate kinase deficiency","hemolytic anaemia due to triosephosphate isomerase deficiency","hemolytic anemia due to pyruvate Kinase deficiency","hemolytic anemia due to triosephosphate isomerase deficiency","hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency","hemolytic-uremic syndrome without diarrhea","hemolytic-uremic syndrome without diarrhoea","hemophilia a, X-linked recessive","hemophilia b, X-linked recessive","Hemophilia C","hemophilia type A","hemophilia type B","hemorrhagic diathesis due to antithrombin pittsburgh","Hemorrhagiparous thrombocytic dystrophy","Hemosiderosis of the central nervous system","Hennekam lymphangiectasia lymphedema syndrome","Henoch-Schönlein purpura","HEP","heparan sulphate sulfatase deficiency","heparin-associated thrombocytopenia","heparin-induced thrombocytopenia","heparin-induced thrombocytopenia (disease)","heparin-induced thrombocytopenia type 2","Heparin-induced-immune thrombocytopenia","Hepatic carnitine palmitoyl transferase 1 deficiency","Hepatic carnitine palmitoyl transferase I deficiency","Hepatic glycogen phosphorylase deficiency","hepatic neuroendocrine carcinoma","Hepatic phosphorylase deficiency","hepatic Vod","Hepatitis D","Hepatitis D virus","Hepatitis delta virus caused hepatitis","Hepatitis delta virus hepatitis","hepatitis type D","Hepatoencephalopathy due to COXPD1","Hepatolenticular degeneration","Hepatorenal glycogenosis","Hepatorenal tyrosinemia","hereditary adenomatous polyposis coli","Hereditary amyloid nephropathy","Hereditary amyloidosis, Finnish type","Hereditary anetoderma","Hereditary angioedema with normal C1 inhibitor","Hereditary angioneurotic edema with C1 inhibitor deficiency","Hereditary angioneurotic edema with C1Inh deficiency","Hereditary angioneurotic edema with normal C1 inhibitor","Hereditary angioneurotic edema with normal C1Inh","Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome","hereditary antithrombin deficiency","Hereditary areflexic dystasia, Roussy-Lévy type","Hereditary articular chondrocalcinosis","hereditary atransferrinemia","hereditary atrial fibrillation (disease)","Hereditary brain cavernous angioma","hereditary brain cavernous hemangioma","hereditary breast and ovarian cancer","Hereditary Breast and Ovarian Cancer Syndrome","hereditary breast ovarian cancer syndrome","Hereditary bundle branch defect","Hereditary calcium pyrophosphate deposition","Hereditary CC","Hereditary cerebral cavernoma","Hereditary cerebral cavernous malformation","hereditary cerebral haemorrhage with amyloidosis - Dutch type","Hereditary cerebral hemorrhage with amyloidosis","hereditary cerebral hemorrhage with amyloidosis - Dutch type","Hereditary ceruloplasmin deficiency","Hereditary chin myoclonus","Hereditary chin-trembling","hereditary chronic pancreatitis","Hereditary colorectal endometrial cancer syndrome","Hereditary combined deficiency of factors II, VII, IX and X","Hereditary congenital controlateral synkinesia","Hereditary congenital mirror movements","Hereditary cranium bifidum","hereditary Creutzfeldt Jacob disease","Hereditary cryohydrocytosis type 2","hereditary defective mismatch repair syndrome","Hereditary diffuse cancer of stomach","Hereditary diffuse gastric adenocarcinoma","Hereditary essential myoclonus","hereditary exocrine pancreatic carcinoma","hereditary Factor IX deficiency","hereditary Factor IX deficiency disease","hereditary Factor V deficiency","hereditary Factor VIII deficiency","hereditary Factor VIII deficiency disease","hereditary Factor X deficiency","hereditary Factor XI deficiency","hereditary factor XI deficiency disease","Hereditary ferritinopathy","hereditary flat adenoma syndrome","hereditary fructose intolerance syndrome","Hereditary fructose-1-phosphate aldolase deficiency","Hereditary fructosemia","Hereditary gingival hyperplasia","hereditary glomangioma","Hereditary hemochromatosis type 3","Hereditary hollow visceral myopathy","Hereditary hyperexplexia","Hereditary hyperferritinemia with cataracts","Hereditary hyperferritinemia-cataract disease","Hereditary hyperphosphatasia","hereditary hyperprolactinemia (disease)","hereditary hypertrophic cardiomyopathy","hereditary hypophosphatemic rickets, autosomal dominant","hereditary hypophosphatemic rickets, autosomal recessive","hereditary hypophosphatemic rickets, X-linked","Hereditary hypotrichosis simplex","Hereditary hypotrichosis simplex of the scalp","Hereditary inclusion body myopathy type 2","Hereditary inclusion body myopathy with early respiratory failure","hereditary infantile bilateral striatal necrosis","Hereditary infantile gigantism","Hereditary isolated MTC","hereditary juvenile megaloblastic anaemia due to intrinsic factor deficiency","Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency","Hereditary keratitis","Hereditary keratoacanthoma","Hereditary leiomyomatosis","hereditary leiomyomatosis and renal cell cancer syndrome","Hereditary Leiomyomatosis and Renal Cell Carcinoma","Hereditary leiomyomatosis with renal carcinoma","Hereditary Lenègre disease","Hereditary Lev disease","Hereditary Lev-Lenègre disease","hereditary liability to pressure palsies","hereditary long QT syndrome","hereditary lymphedema 1","Hereditary lymphedema type I","Hereditary lymphedema type II","Hereditary macular atrophy","hereditary medullary thyroid gland carcinoma","hereditary melanoma (disease)","hereditary methemoglobinemia","hereditary motor ABD sensory neuropathy Lom type","hereditary motor and sensory neuropathy 1A","hereditary motor and sensory neuropathy 4","hereditary motor and sensory neuropathy IIA2","Hereditary motor and sensory neuropathy type 4","Hereditary motor and sensory neuropathy type IV","hereditary motor and sensory neuropathy with agenesis of the corpus callosum","Hereditary motor and sensory neuropathy, Lom type","Hereditary motor and sensory neuropathy, proximal type","Hereditary motor and sensory neuropathy, Russe Type","hereditary motor and sensory neuropathy, X-linked","Hereditary multi-infarct dementia","Hereditary multiple cutaneous leiomyomas","Hereditary multiple glomangiomas","Hereditary myoclonus-progressive distal muscular atrophy syndrome","hereditary neurocutaneous angioma","Hereditary non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)","Hereditary nonpolyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)","Hereditary ochronosis","hereditary Osteo-onychodysplasia","Hereditary ovalocytosis","hereditary pancreatic cancer","hereditary pancreatic carcinoma","hereditary pancreatitis","hereditary paraganglioma-pheochromocytoma syndrome","hereditary paroxysmal ataxia with neuromyotonia","hereditary paroxysmal nocturnal hemoglobinuria","Hereditary PCCD","Hereditary pituitary hyperplasia","hereditary pityriasis rubra pilaris","Hereditary prepubertal gynecomastia","Hereditary progressive arthroophthalmopathy","Hereditary progressive dystonia with marked diurnal fluctuation","Hereditary progressive heart block","hereditary prothrombin deficiency","hereditary proximal myopathy with early respiratory failure","Hereditary pseudocholinesterase deficiency","Hereditary pseudohaemophilia","Hereditary renal amyloidosis","hereditary sensory and autonomic neuropathy 3","hereditary sensory and autonomic neuropathy type 1B","Hereditary sensory and autonomic neuropathy type 3","Hereditary sensory and autonomic neuropathy type I","hereditary sensory and autonomic neuropathy type IB","Hereditary sensory and autonomic neuropathy type II","Hereditary sensory and autonomic neuropathy type III","Hereditary sensory and autonomic neuropathy type IV","Hereditary sensory and autonomic neuropathy type V","hereditary sensory and autonomic neuropathy with spastic paraplegia","hereditary sensory and motor neuropathy type 4","hereditary sensory neuropathy type 3","Hereditary Sensory Neuropathy Type I","hereditary sensory neuropathy type IB","Hereditary spastic paraparesis type 15","hereditary spastic paraplegia 15","hereditary spastic paraplegia 28","hereditary spastic paraplegia 35","hereditary spastic paraplegia 4","hereditary spastic paraplegia 46","hereditary spastic paraplegia 49","hereditary spastic paraplegia 53","hereditary spastic paraplegia 61","hereditary spastic paraplegia 7","hereditary spastic paraplegia type 10","hereditary spastic paraplegia type 11","hereditary spastic paraplegia type 12","hereditary spastic paraplegia type 13","hereditary spastic paraplegia type 14","hereditary spastic paraplegia type 15","hereditary spastic paraplegia type 16","hereditary spastic paraplegia type 17","hereditary spastic paraplegia type 18","hereditary spastic paraplegia type 19","hereditary spastic paraplegia type 2","hereditary spastic paraplegia type 23","hereditary spastic paraplegia type 24","hereditary spastic paraplegia type 25","hereditary spastic paraplegia type 26","hereditary spastic paraplegia type 27","hereditary spastic paraplegia type 28","hereditary spastic paraplegia type 29","hereditary spastic paraplegia type 30","hereditary spastic paraplegia type 31","hereditary spastic paraplegia type 32","hereditary spastic paraplegia type 34","hereditary spastic paraplegia type 35","hereditary spastic paraplegia type 36","hereditary spastic paraplegia type 37","hereditary spastic paraplegia type 38","hereditary spastic paraplegia type 39","hereditary spastic paraplegia type 3A","hereditary spastic paraplegia type 4","hereditary spastic paraplegia type 41","hereditary spastic paraplegia type 42","hereditary spastic paraplegia type 43","hereditary spastic paraplegia type 44","hereditary spastic paraplegia type 45","hereditary spastic paraplegia type 46","hereditary spastic paraplegia type 48","hereditary spastic paraplegia type 49","hereditary spastic paraplegia type 53","hereditary spastic paraplegia type 54","hereditary spastic paraplegia type 55","hereditary spastic paraplegia type 56","hereditary spastic paraplegia type 57","hereditary spastic paraplegia type 5A","hereditary spastic paraplegia type 6","hereditary spastic paraplegia type 61","hereditary spastic paraplegia type 62","hereditary spastic paraplegia type 63","hereditary spastic paraplegia type 64","hereditary spastic paraplegia type 7","hereditary spastic paraplegia type 72","hereditary spastic paraplegia type 73","hereditary spastic paraplegia type 74","hereditary spastic paraplegia type 75","hereditary spastic paraplegia type 76","hereditary spastic paraplegia type 77","hereditary spastic paraplegia type 8","hereditary spastic paraplegia type 9A","hereditary spastic paraplegia type 9B","Hereditary SRNS","Hereditary TAAD","Hereditary thoracic aortic aneurysm and aortic dissection","Hereditary thrombocythemia","hereditary thrombocytosis","hereditary thrombocytosis disease","Hereditary thrombophilia due to congenital antithrombin 3 deficiency","hereditary thrombophilia due to congenital protein C deficiency","hereditary thrombophilia due to congenital protein S deficiency","hereditary thyroid medullary carcinoma","Hereditary transthyretin amyloid polyneuropathy","Hereditary TTR amyloid polyneuropathy","Hereditary TTR amyloidosis","hereditary unconjugated hyperbilirubinemia","hereditary vascular retinopathy","Hereditary vitamin D-resistant rickets","Hereditary von Willebrand disease","hereditary von Willebrand disease (hereditary or acquired)","Hereditary whispering dysphonia","Hereditary woolly hair syndrome","Hereditary wooly hair syndrome","Hereditary xerocytosis","Heredopathia atactica polyneuritiformis","Herlitz-Pearson-type epidermolysis bullosa","Herlyn-Werner syndrome","Herlyn-Werner-Wunderlich syndrome","Hernández-Fragoso syndrome","Herpes gestationis","Herpes gestationis (disorder)","Herpes gestationis NOS (disorder)","Herpes gestationis unspecified (disorder)","Herpes simplex meningo-encephalitis","Herpes simplex neuroinvasion","Herpetic encephalitis","Hers disease","Herva disease","Heterozygous microdeletion 17p11.2p12","heterozygous OSMED","heterozygous otospondylomegaepiphyseal dysplasia","Hex A pseudodeficiency","hexosaminidase A deficiency","Hexosaminidase activator deficiency","Hexosaminidases A and B deficiency","HF","HFAS","HFE3","HFGS","HFM","HGPPS","HGPS","HHCS","HHF3","HHH syndrome","HHML","HHRH","HHT","HI","HI/HA syndrome","Hibernian fever, familial","HIBM-ERF","HIBM2","Hiccups, Chronic","HIES autosomal dominant","High scapula","hilar CC","Hilar CCA","Hilar cholangiocarcinoma","hilar portion of hepatic duct cholangiocarcinoma","Hinman-Allen syndrome","Hinson-Pepys disease","Hip dysplasia-enchondromata-ecchondroma syndrome","Hirata disease","Hirayama disease","Hirschsprung disease susceptibility","Hirschsprung disease with type d brachydactyly","Hirschsprung disease-hearing loss-polydactyly syndrome","Hirschsprung disease-intellectual disability syndrome","Hirsutism-congenital gingival hyperplasia syndrome","HIS deficiency","Histidase deficiency","Histidine ammonia-lyase deficiency","Histidinuria","histidinuria due to a renal tubular defect","Histiocytic necrotizing lymphadenitis","histiocytoma, fibrous, malignant","Histiocytosis X","HIT","HITT","HJMD","HKPP","HLA class 2-negative SCID","HLA class 2-negative severe combined immunodeficiency","HLD1","HLD12","HLD5","HLD9","HLHS","HLN1","HLP type 3","HLRCC","HMC syndrome","HMD","HMERF","HMERF-ERF","HMG-CoA lyase deficiency","HMG-CoA synthase deficiency","HMG-CoA synthase-2 deficiency","HMNDYT2","HMPS","HMSN 4","HMSN IB","HMSN IIA2","HMSN IV","HMSN type IV","HMSN, Lom type","HMSN, X-linked","HMSN-Lom","HMSN1A","HMSN1B","HMSN2A2","HMSN4D","HMSNL","HMSNP","HMSNR","HND","HNEC","HNPP","HO-1 deficiency","Hodgkin lymphoma nodular LP, NOS","Hodgkin lymphoma nodular lymphocyte predominant type, NOS","Hoepffner-Dreyer-Reimers syndrome","Hoffmann syndrome","HoFH","HOGA","HOKPP","Holmes-Schepens syndrome","holocarboxylase synthase deficiency","holoprosencephaly sequence","Holoprosencephaly, minor form","holoprosencephaly-agnathia","Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome","holoprosencephaly-fetal akinesia/hypokinesia sequence syndrome","Holoprosencephaly-like","Holoprosencéphalie, minor form","Holzgreve-Wagner-Rehder syndrome","homocystinuria, B6-responsive and nonresponsive types","homogentisate 1,2-dioxygenase deficiency","Homogentisic acid oxidase deficiency","Homozygous alpha0-thalassemia","homozygous familial hypobetalipoproteinemia","Homozygous hemoglobin S","Homozygous sickle cell anemia SS","Honeycomb corneal dystrophy","Hopf disease","Hornstein-Knickenberg syndrome","Horton disease","HOS","Houlston-Ironton-Temple syndrome","Howell-Evans syndrome","HP-HA syndrome","HPD with marked diurnal fluctuation","HPE","HPE, minor form","HPE-L","HPFH-beta-thalassemia syndrome","HPFH-sickle cell disease syndrome","HPMR","HPP","HPRT complete deficiency","HPRT deficiency grade IV","HPRT deficiency, grade I","HPRT partial deficiency","HPRT-related gout","HPRT-related hyperuricemia","HPS","HPT-JT","HRD syndrome","HRDS","HS","HSAN 3","HSAN III","HSAN with cough and gastroesophageal reflux","HSAN with spastic paraplegia","HSAN1","HSAN1B","HSAN2","HSAN3","HSAN4","HSAN5","HSCR","HSD10 deficiency","HSD10 mitochondrial disease","HSD10 mitochondrial disease, X-linked dominant","HSD10MD","HSE","HSMN IV","HSN 3","HSN1B","HSP","HSP-TCC","HSV encephalitis","HSVE","HT-EDS","Hughes syndrome","Human dermatosparaxis EDS VIIC","Human parvovirus B19 caused infectious embryofetopathy","Human parvovirus B19 infectious embryofetopathy","humero-radial fusion","humero-radio-ulnar fusion","humero-radio-ulnar intercalary transverse meromelia","humeroradial synostosis","humeroradial synostosis (disease)","Humerospinal dysostosis","Hunter syndrome","Hunter-Jurenka-Thompson syndrome","Hunter-Thompson-Reed syndrome","Huntington chorea","Huntington disease-like 4","Huntington disease-like type 1","Huntington disease-like type 2","Huntington disease-like type 3","Huntington-like neurodegenerative disorder 1","Hutchinson lupus","Hutchinson-Gilford disease","Hutchinson-Gilford progeria","HVDAS","HVDRR","HWW syndrome","Hyalinosis cutis et mucosae","Hydatid cyst","Hydatid disease","hydatid mole","Hydatidosis","Hyde Forster-McCarthy-Berry syndrome","hydranencephaly (disease)","Hydrargyria","Hydrocephalus-agyria-retinal dysplasia syndrome","Hydrocephalus-cleft palate-joint contractures syndrome","Hydrocephalus-endocardial fibroelastosis-cataract syndrome","Hydrometrocolpos-postaxial polydactyly syndrome","Hydronephrosis-inverted smile syndrome","hydrops fetalis (disease)","Hydrops-ectopic calcification-motheaten syndrome","Hydroxymethylglutaric aciduria","hydroxymethylglutaryl-CoA lyase deficiency","hyper Ig E syndrome, autosomal dominant","hyper-IgE recurrent infection syndrome, autosomal dominant","hyper-IgE syndrome, autosomal dominant","Hyperargininemia","Hyperbilirubinemia type 2","Hyperbilirubinemia, Rotor type","hyperbilirubinemia, rotor type, digenic","hypercalciuric hypophosphatemic rickets","hyperCKmia","Hyperdibasic aminoaciduria","hyperdibasic aminoaciduria type 2","Hyperferritinemia Cataract Syndrome","Hyperglycerolemia","Hypergonadotropic ovarian dysgenesis","Hyperhistidinemia","Hyperimidodipeptiduria","hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant","hyperimmunoglobulin E syndrome type 1","Hyperinsulinemic hypoglycemia due to insulin receptor deficiency","hyperinsulinemic hypoglycemia familial 3","hyperinsulinemic hypoglycemia, familial, 4","hyperinsulinemic hypoglycemia, familial, type 3","hyperinsulinemic hypoglycemia, familial, type 4","hyperinsulinemic hypoglycemia, familial, type 5","hyperinsulinemic hypoglycemia, familial, type 6","Hyperinsulinism due to glutamodehydrogenase deficiency","Hyperinsulinism due to SCHAD deficiency","Hyperkalemia-hypertension syndrome, Gordon type","hyperkalemic periodic paralysis, type 2","Hyperkalemic PP","hyperkeratosis lenticularis perstans (disease)","HyperKPP","Hyperlipidemia due to hepatic lipase deficiency","Hyperlipidemia due to hepatic triglyceride lipase deficiency","Hyperlipidemia due to HL deficiency","Hyperlipidemia due to HTGL deficiency","Hyperlipidemia type 3","Hyperlipoproteinemia type 3","hyperlipoproteinemia type III","hyperlysinemia (disease)","Hyperlysinemia type I","Hyperlysinemia type II","hypermanganesemia with dystonia 2","hypermanganesemia with dystonia 2; HMNDYT2","hypermanganesemia with dystonia type 2","hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase","Hypermobile EDS","Hypernychthemeral syndrome","Hyperornithinemia","Hyperornithinemia-gyrate atrophy of choroid and retina syndrome","hyperornithinemia-hyperammonemia-homocitrullinemia syndrome","Hyperostosis corticalis deformans juvenilis","Hyperostosis frontalis interna","Hyperostosis generalisata with striations","hyperostosis, endosteal","hyperoxaluria, primary","hyperparathyroidism 2 with jaw tumors","hyperparathyroidism type 2","hyperparathyroidism, neonatal","hyperparathyroidism-2","hyperparathyroidism-jaw tumour syndrome","hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome","Hyperphenylalaninemia due to BH4 deficiency","hyperphenylalaninemia, non-PKU mild","Hyperphenylalaninemic embryopathy","Hyperphosphatasemia tarda","hyperphosphatasia with intellectual disability syndrome","hyperphosphatasia with mental retardation syndrome","Hyperplastic polyposis syndrome","HyperPP","hypersensitivity angiitis","Hypertelorism-hypospadias syndrome","Hypertelorism-oesophageal abnormality-hypospadias syndrome","Hypertensive hyperkalemia","hyperthermia of anaesthesia","Hyperthermia of anesthesia","Hypertrichosis universalis","Hypertrichosis with or without gingival hyperplasia","hypertrichosis, congenital generalized, with gingival hyperplasia","Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome","Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome","Hypertrichotic osteochondrodysplasia","hypertrichotic osteochondrodysplasia (Cantu syndrome)","hypertrophic cardiomyopathy and renal tubular disease due to mtDNA mutation","hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome","Hypertrophic cardiomyopathy with kidney anomalies due to mtDNA mutation","hypertrophic familial cardiomyopathy","hypertrophic gastritis","hypertrophic gastropathy","hypertrophic neuropathy of Refsum","Hypertrophic obstructive cardiomyopathy","hypertrophic osteoarthropathy, primary","hypertrophic osteoarthropathy, primary, autosomal recessive, type 1","hypertropic osteoarthropathy, primary","hyperuricemia, HRPT-related, X-linked recessive","hypoceruloplasminemia, hereditary","Hypocretin/orexin deficiency syndrome","hypodontia","hypodontia and nail dysplasia","hypodontia with nail dysplasia","Hypodontia-nail dysgenesis syndrome","hypodontia-nail dysplasia","Hypogenetic lung syndrome","Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome","hypogonadotropic hypogonadism 24 without anosmia","hypohidrotic ectodermal dysplasia with immune deficiency","hypohidrotic X-linked ectodermal dysplasia","hypokalemic alkalosis","hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria","hypomelia hypotrichosis facial hemangioma syndrome","hypomyelinating leukodystrophy 12","hypomyelinating leukodystrophy 5","hypomyelinating leukodystrophy 9","hypomyelinating leukodystrophy type 12","hypomyelinating leukodystrophy type 5","hypomyelinating leukodystrophy type 9","Hypomyelination-spondyloepimetaphyseal dysplasia syndrome","hypoparathyroidism familial isolated","hypoparathyroidism with short stature, intellectual disability and seizures","hypoparathyroidism, deafness, and renal anomalies syndrome","hypoparathyroidism, familial","hypoparathyroidism, sensorineural deafness, and renal disease","Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome","hypoparathyroidism-deafness-renal disease syndrome","Hypoparathyroidism-intellectual disability-dysmorphism syndrome","hypoparathyroidism-retardation-dysmorphism syndrome","Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome","Hypoparathyroidism-short stature-intellectual disability-seizures syndrome","hypophosphatemic hypercalciuric rickets","hypophosphatemic rickets with hypercalciuria","hypophosphatemic rickets, autosomal dominant","hypophosphatemic rickets, autosomal recessive","hypophosphatemic rickets, X-linked","hypophosphatemic rickets, X-linked dominant, X-linked dominant","Hypophyseal duplication","Hypophyseal gigantism","Hypopigmentation-deafness syndrome","Hypopigmentation-hearing loss syndrome","hypopigmentation/deafness of Tietz","Hypopituitarism due to empty sella turcica syndrome","hypoplastic anterior pituitary, missing stalk, and ectopic posterior pituitary","hypoplastic enamel-onycholysis-hypohidrosis syndrome","hypoplastic tibiae-postaxial polydactyly syndrome","HypoPP","Hypoproconvertinemia","Hypoproteinemic hypertrophic gastropathy","Hypoprothrombinemia","hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss","hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss","Hypospadias, severe form","Hypospadias-dysphagia syndrome","hypospadias-hypertelorism syndrome","hypospadias-hypertelorism-coloboma and deafness syndrome","Hypothalamic hamartoblastoma syndrome","hypothyroidism, congenital, due to dyshormonogenesis, 2B","hypothyroidism, congenital, nongoitrous 4","hypothyroidism, congenital, nongoitrous, 7","hypothyroidism, congenital, nongoitrous, type 1","hypothyroidism, congenital, nongoitrous, type 4","Hypothyroidism-cleft palate syndrome","Hypotonia and ichthyosis due to dolichol phosphate deficiency","hypotonia, infantile, with psychomotor retardation and characteristic facies","hypotonia, infantile, with psychomotor retardation and characteristic facies 3","Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome","hypotonia-cystinuria syndrome type 1","hypotonia-cystinuria type 1 syndrome","hypotrichosis with cone-rod dystrophy","Hypotrichosis with juvenile macular dystrophy","Hypotrichosis, Marie Unna type","Hypotrichosis-congenital ichthyosis syndrome","Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency","Hypoxanthine guanine phosphoribosyltransferase complete deficiency","Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I","Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV","HYPP","I-cell disease","I2S deficiency","IAEP","IAHSP","IBM","IBM2","IBMPFD","IC/BPS","IC/PBS","ICE syndrome","ICGHD","ichthyosiform erythroderma","ichthyosis (disease), X-linked","ichthyosis , congenital, autosomal recessive 4b (harlequin)","ichthyosis , X-linked, X-linked recessive","ichthyosis acquisita","ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis","Ichthyosis bullosa of Siemens","Ichthyosis congenita, Harlequin type","ichthyosis fetalis, Harlequin type","Ichthyosis follicularis-atrichia-photophobia syndrome","ichthyosis histrix, curth-macklin type","Ichthyosis hystrix Brocq type","Ichthyosis hystrix Rheydt type","Ichthyosis hystrix, Curth-Macklin type","Ichthyosis, CHILD Syndrome","ichthyosis, congenital, autosomal recessive type 11","ichthyosis, congenital, autosomal recessive type 4B","Ichthyosis, Erythrokeratodermia Variabilis","Ichthyosis, Netherton Syndrome","Ichthyosis, X Linked","Ichthyosis-follicular atrophoderma-hypotrichosis syndrome","Ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome","Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome","IDDCA","IDDM-secretory diarrhea syndrome","IDDM-secretory diarrhoea syndrome","idic (15) syndrome","idic(15)","Idiopathic achalasia of esophagus","idiopathic achalasia of oesophagus","Idiopathic and/or familial pulmonary arterial hypertension","idiopathic aortitis","idiopathic aplastic aplasia","Idiopathic asymptomatic hyperCKemia","Idiopathic basal ganglia calcification","Idiopathic bone marrow failure","idiopathic bone marrow fibrosis","Idiopathic camptocormism","Idiopathic capillary leak syndrome","idiopathic catastrophic epileptic encephalopathy","Idiopathic catatonic syndrome","idiopathic disseminated CMV infection","idiopathic dystonia","Idiopathic excessive sleepiness","idiopathic hypertrophic osteoarthropathy","Idiopathic infantile arterial calcification","Idiopathic late-onset cerebellar ataxia","Idiopathic lobular panniculitis","Idiopathic massive osteolysis","Idiopathic membranous glomerulonephritis","Idiopathic Moyamoya disease","Idiopathic multicentric osteolysis with or without nephropathy","Idiopathic myelofibrosis","Idiopathic nodular panniculitis","Idiopathic non-lupus FHN","Idiopathic obliterative arteriopathy","Idiopathic orthostatic hypotension","idiopathic PAP","idiopathic pneumonia syndrome","Idiopathic progressive lumbar kyphosis","idiopathic pulmonary alveolar proteinosis","Idiopathic retinal perivasculitis","Idiopathic retinal vasculitis","Idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome","Idiopathic SRNS","Idiopathic SSNS with secondary steroid resistance","idiopathic thrombocytopenia","idiopathic thrombocytopenia purpura","idiopathic thrombocytopenic purpura","Idiopathic torsion dystonia","Idiopathic torsion dystonia of mixed type","Idiopathic tracheobronchomegaly","idiopathic ventricular fibrillation, Brugada type","Idiopathic-SFN","IDMDC","Iduronate 2-sulfatase deficiency","IED","Ieshima-Koeda-Inagaki syndrome","IESS","IFAH syndrome","IFAP syndrome","IFAP syndrome with or without BRESHECK syndrome","IFAP syndrome with or without BRESHECK syndrome, X-linked recessive","IFAP/BRESHECK syndrome","IFD","IgA glomerulonephritis","IgA nephropathy","IgA vasculitis","IGCM","IGDA","IGF-1 deficiency","IgG subclass deficiency with IgA subclass deficiency","IgG4-RD","IgG4-related disease","IgG4-related hepatopathy","IgG4-related sclerosing disease","IHCM","IHPRF","IHPRF syndrome","IHPRF3","IHS","IHSC","IIH","IJO","IL-7R","IL-7Ralpha deficiency","Ileal neuroendocrine neoplasm","Illum syndrome","IMD","IMD23","IMD36","iminoglycinuria, digenic","Immune brachial plexus neuropathy","immune dysfunction and diarrhea syndrome","immune dysfunction and diarrhoea syndrome","Immune dysfunction due to T-cell inactivation due to calcium entry defect","immune dysregulation, polyendocrinopathy, and enteropathy X-linked syndrome","immune myopathy with myocyte necrosis","Immune pancytopenia","Immune thrombocytopenic purpura","Immunocytoma","immunodeficiency 14","immunodeficiency 14A, autosomal dominant","immunodeficiency 2","immunodeficiency 23","immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant","immunodeficiency 36","immunodeficiency 67","immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis","immunodeficiency by defective expression of HLA class type 2","immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency","immunodeficiency due to purine nucleoside phosphorylase deficiency","immunodeficiency type 14","immunodeficiency type 21","immunodeficiency type 23","immunodeficiency type 30","immunodeficiency type 31C","immunodeficiency type 32A","immunodeficiency type 36","immunodeficiency with hyper IgE and cognitive impairment","immunodeficiency-centromeric instability-facial anomalies","Immunodeficiency-centromeric instability-facial anomalies syndrome","Immunodeficiency-centromeric instability-facial dysmorphism syndrome","Immunodeficiency-microcephaly-chromosomal instability syndrome","Immunodeficiency-short limb dwarfism syndrome","immunodeficiency-vasculitis-myoclonus syndrome","immunodysregulation, polyendocrinopathy, and enteropathy, X-linked","immunoglobulin G4-related sclerosing disease","immunoneurologic disorder, X-linked","Immunosuppressive measles encephalitis","IMNEPD","IMNM","Imploding antrum syndrome","INAD","inborn 5-oxoprolinase (ATP-hydrolyzing) activity disorder","inborn error of 5-oxoprolinase (ATP-hydrolyzing) activity","inborn error of glutamate-cysteine ligase activity","inborn error of glutathione hydrolase activity","inborn error of glutathione synthase activity","inborn error of pulmonary surfactant metabolism","inborn error of surfactant metabolism","inborn glutamate-cysteine ligase activity disorder","inborn glutathione hydrolase activity disorder","inborn glutathione synthase activity disorder","Inclusion body beta-thalassemia","Inclusion body fibromatosis","inclusion body fibromatosis (disease)","inclusion body myopathy autosomal recessive","Inclusion body myopathy type 2","inclusion body myopathy/Paget disease/frontotemporal dementia","Incontinentia pigmenti syndrome","incontinentia pigmenti, X-linked dominant","index finger anomaly-Pierre Robin syndrome","indolent systemic mastocytosis (morphologic abnormality)","Infantile and juvenile forms of acromegaly","Infantile arteriosclerosis","Infantile cardiomyopathy with histiocytoid change","Infantile cortical hyperostosis","infantile digital fibroma/fibromatosis","Infantile dysmorphic sialidosis","infantile epileptic encephalopathy","Infantile gigantism due to pituitary hyperplasia","infantile hemangiopericytoma","Infantile hereditary endothelial dystrophy","Infantile hypotonia-psychomotor retardation-characteristic facies syndrome","Infantile lobar hyperinflation","Infantile malignant osteopetrosis","Infantile neuroaxonal dystrophy","Infantile neurovisceral ASMD","Infantile optic atrophy with chorea and spastic paraplegia","Infantile phospholipase A2-associated neurodegeneration","Infantile PLAN","infantile polyarteritis nodosa","Infantile reversible cytochrome C oxidase deficiency myopathy","infantile spasms","infantile spasms syndrome","Infantile subacute necrotizing encephalopathy","Infantile tibia vara","Infantile xanthomatous cardiomyopathy","Infantile-onset multisystem inflammatory disease","infantile-onset multisystem neurologic, endocrine, and pancreatic disease","Infantile-onset orofacial-trunk-limbs dyskinesia","Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome","infection by Babesia","infection by Listeria monocytogenes","infection by Microspora","infection by trypanosoma cruzi","Infection due to Coxiella burnetii","Infection-related HUS","inflammation of arachnoid mater","inflammation of myoseptum","inflammation of temporal artery","Inflammatory amyloidosis","Inflammatory myoglandular polyps","Inflammatory pseudotumor of skeletal muscle","inflammatory skin and bowel disease, neonatal","Infundibulo-panhypophysitis","Inhalation anthrax disease","inherited antithrombin deficiency","Inherited CJD","inherited deficiency of transcobalamin","Inherited deficiency of transcobalamin II","inherited erythroblastopenia","inherited glutathione synthetase deficiency","inherited GPI anchor-deficiency","inherited isolated nail anomaly caused by mutation in FZD6","inherited paroxysmal nocturnal hemoglobinuria","Inherited zinc deficiency","insensitivity to pain, congenital, with anhidrosis","insulin-producing islet cell tumor","insulin-producing islet cell tumour","insulin-producing tumor of islet cells","insulin-producing tumor of the islet cells","insulin-producing tumour of islet cells","insulin-producing tumour of the islet cells","Int22h1/Int22h2 mediated-Xq28 microduplication syndrome","intellectual development disorder, autosomal dominant 21","intellectual developmental disorder with cardiac arrhythmia","intellectual developmental disorder with cardiac arrhythmia; IDDCA","intellectual developmental disorder, autosomal dominant 26","intellectual developmental disorder, autosomal dominant 44, with microcephaly","intellectual developmental disorder, autosomal recessive 40","intellectual developmental disorder, autosomal recessive 53","intellectual developmental disorder, X-linked 109, X-linked recessive","intellectual developmental disorder, X-linked 12, X-linked recessive","intellectual developmental disorder, X-linked syndromic 32, X-linked recessive","intellectual developmental disorder, X-linked syndromic 34","intellectual developmental disorder, X-linked syndromic, Christianson type","intellectual developmental disorder, X-linked syndromic, Stocco dos Santos type","intellectual developmental disorder, X-linked, syndromic 13, X-linked recessive","Intellectual developmental disorder, X-linked, syndromic 7","intellectual disability and microcephaly with pontine and cerebellar hypoplasia","Intellectual disability associated with fragile site FRAXE","intellectual disability syndrome, X-linked, Armfield type","intellectual disability syndrome, X-linked, Siderius type","intellectual disability type 26","intellectual disability with psychosis, pyramidal signs, and macroorchidism","intellectual disability, autosomal dominant 21","intellectual disability, autosomal dominant 47","intellectual disability, autosomal dominant 48","intellectual disability, autosomal dominant type 17","intellectual disability, autosomal dominant type 18","intellectual disability, autosomal dominant type 19","intellectual disability, autosomal dominant type 21","intellectual disability, autosomal dominant type 32","intellectual disability, autosomal dominant type 37","intellectual disability, autosomal dominant type 7","intellectual disability, autosomal recessive 53","intellectual disability, autosomal recessive 55","intellectual disability, autosomal recessive type 36","intellectual disability, autosomal recessive type 37","intellectual disability, autosomal recessive type 39","intellectual disability, autosomal recessive type 40","intellectual disability, autosomal recessive type 41","intellectual disability, autosomal recessive type 48","intellectual disability, autosomal recessive type 53","intellectual disability, autosomal recessive type 55","intellectual disability, epilepsy, and endocrine disorder","intellectual disability, microcephaly, epilepsy, and ataxia syndrome","Intellectual disability, Mietens-Weber type","intellectual disability, motor dysfunction and joint contractures","intellectual disability, X-linked 15","intellectual disability, X-linked 49","intellectual disability, X-linked 98","intellectual disability, X-linked syndromic 5","intellectual disability, X-linked syndromic 7","intellectual disability, X-linked syndromic, Abidi type","intellectual disability, X-linked syndromic, Christianson type","intellectual disability, X-linked syndromic, Nascimento-type","intellectual disability, X-linked type 12","intellectual disability, X-linked type 98","intellectual disability, X-linked, Snyder-Robinson type","intellectual disability, X-linked, syndromic 11, Shashi type","intellectual disability, X-linked, syndromic 12","intellectual disability, X-linked, syndromic 13","intellectual disability, X-linked, syndromic 15 (Cabezas type)","intellectual disability, X-linked, syndromic 17","intellectual disability, X-linked, syndromic 20","intellectual disability, X-linked, syndromic 25","intellectual disability, X-linked, syndromic 28","intellectual disability, X-linked, syndromic 32","intellectual disability, X-linked, syndromic 34","intellectual disability, X-linked, syndromic 6","intellectual disability, X-linked, syndromic 9","intellectual disability, X-linked, syndromic type 13","intellectual disability, X-linked, syndromic type 32","intellectual disability, X-linked, syndromic type 34","intellectual disability, X-linked, syndromic, Borck type","intellectual disability, X-linked, syndromic, Borck type; MRXSBRK","intellectual disability, X-linked, syndromic, Claes-Jensen type","intellectual disability, X-linked, syndromic, Hedera type","intellectual disability, X-linked, syndromic, Lubs type","intellectual disability, X-linked, syndromic, Martin-Probst type","intellectual disability, X-linked, with gynecomastia and obesity","intellectual disability, X-linked, with recurrent respiratory infections","intellectual disability, X-linked, with short stature","Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome","intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome","intellectual disability-developmental delay-contractures syndrome","Intellectual disability-epilepsy-bulbous nose syndrome","Intellectual disability-epilepsy-endocrine disorders syndrome","Intellectual disability-epilepsy-stereotypic hand movement syndrome","Intellectual disability-hypotonia-facial dysmorphism syndrome","intellectual disability-hypsarrhythmia syndrome","Intellectual disability-loss of expressive language-facial dysmorphism syndrome","intellectual disability-severe speech delay-mild dysmorphism syndrome","Intellectual disability-sparse hair-brachydactyly syndrome","Intellectual disability-truncal obesity syndrome","Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome","interatrial septal defect","Interauricular communication","Intercostal nerve syndrome","Intermediate generalized JEB","Intermediate PBD-ZSD","Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder","intermediate uveitis (disease)","Intermittent cutaneous lupus","interstitial cystitis, chronic","Interstitial cystitis/bladder pain syndrome","Interstitial cystitis/painful bladder syndrome","interstitial lung disease due to SP-B dysfunction","interstitial lung disease due to surfactant Protein B deficiency","intestinal atresia type IIIb","Intestinal epithelial dysplasia","Intestinal lipodystrophy","intestinal lipophagic granulomatosis","intestinal pseudo-obstruction, chronic","intracranial arteriovenous malformation","intractable celiac sprue","intractable coeliac sprue","intrauterine adhesions","Intrauterine methylmercury poisoning","intrauterine synechiae","Intrinsic factor deficiency","Inv dup (15) syndrome","Inv dup(15)","invasive gestational trophoblastic neoplasm","invasive hydatidiform Mole","invasive pneumococcal disease, recurrent isolated, 1","invasive pneumococcal disease, recurrent isolated, type 1","Invdup(15)","Invdupdel(8p)","inverse JEB","inverse RDEB","inverse recessive dystrophic epidermolysis bullosa","Inverted 8p duplication/deletion syndrome","Inverted smile-neurogenic bladder syndrome","IOLOD","IOMID syndrome","ION","IOSCA","iPAP","IPD","IPEX","IPF","Ipp-Gelfand syndrome","IPS","IRD","iron-refractory iron deficiency anaemia","Iron-refractory iron deficiency anemia","Isaacs-Mertens syndrome","Ischiocoxopodopatellar syndrome","ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension","Ischiopatellar dysplasia","Ischiopubicpatellar syndrome","ISM","Iso-Kikuchi syndrome","Isobutyric aciduria","Isochromosome 12p mosaicism","Isochromosome 12p syndrome","Isochromosome 18p","Isochromosome 21","Isochromosome 5p","Isochromosome 9p","Isodicentric 15 chromosome","Isodicentric chromosome 15 syndrome","Isolated acheiropody","Isolated angiitis of the central nervous system","Isolated aplasia/hypoplasia of the thymus","Isolated asymmetric crying facies","Isolated asymptomatic hyperCKemia","Isolated atresia of bile ducts","Isolated atrial cardiomyopathy with heart block","Isolated bicoronal craniosynostosis","isolated Cardiac lipidosis","Isolated CAS","Isolated catatonia","Isolated catatonic syndrome","isolated cleft lip (disease)","Isolated cleft of the soft and hard palate","Isolated congenital absence of tibia","Isolated congenital acropachy","Isolated congenital adactyly of hand, unilateral","Isolated congenital aplasia and dysplasia of the tibia with intact fibula","Isolated congenital athymia","Isolated congenital controlateral synkinesia","Isolated congenital digital clubbing","Isolated congenital humero-radio-ulnar intercalary transverse meromelia","Isolated congenital humero-radioulnar fusion","Isolated congenital humeroradial fusion","Isolated congenital longitudinal deficiency of the fibula","Isolated congenital longitudinal deficiency of the radius","Isolated congenital longitudinal deficiency of the tibia","Isolated congenital longitudinal deficiency of the ulna","Isolated congenital LQTS","Isolated congenital mirror movements","isolated congenital nail clubbing","isolated congenital polycystic liver disease","Isolated congenital proximal femoral deficiency","Isolated congenital radioulnar fusion","Isolated congenital thymic aplasia/hypoplasia","Isolated developmental verbal dyspraxia","Isolated digits 2-5 hypodactyly, unilateral","Isolated digits 2-5 oligodactyly, unilateral","Isolated familial MTC","Isolated fibular deficiency","Isolated fibular longitudinal meromelia","isolated follicular keratosis","Isolated frontal plagiocephaly","Isolated FSH deficiency","isolated growth hormone deficiency","Isolated hemihypertrophy","isolated hyperCKemia","isolated hypogammaglobulinemia","Isolated IgG subclass deficiency","isolated inborn glycerol kinase deficiency","isolated lens position anomaly","Isolated median cleft face syndrome","Isolated metopic craniosynostosis","Isolated mitochondrial respiratory chain complex I deficiency","Isolated mitochondrial respiratory chain complex II deficiency","Isolated mitochondrial respiratory chain complex V deficiency","Isolated NADH-coenzyme Q reductase deficiency","Isolated NADH-CoQ reductase deficiency","Isolated NADH-ubiquinone reductase deficiency","Isolated nose agenesis","isolated osteopoikilosis (disease)","Isolated PNDM","Isolated polythelia","Isolated radial club hand","Isolated radial longitidinal meromelia","Isolated radial ray agenesis","Isolated sagittal and bilambdoid craniosynostosis","Isolated sagittal craniosynostosis","Isolated scaphocephaly","Isolated SRNS","Isolated succinate dehydrogenase deficiency","Isolated succinate-coenzyme Q reductase deficiency","Isolated succinate-ubiquinone reductase deficiency","Isolated synostotic brachycephaly","Isolated thymic defect due to thymic aplasia/hypoplasia","Isolated thyrotropin deficiency","Isolated tibial longitudinal meromelia","Isolated trehalose intolerance","Isolated trigonocephaly","Isolated TSH deficiency","Isolated ulnar clubhand","Isolated ulnar deficiency of forearm","Isolated ulnar longitudinal meromelia","Isolated unicoronal craniosynostosis","isolated ventriculoarterial discordance","Isolated vitamin E deficiency","Isotretinoin embryopathy","Isovaleric acid CoA dehydrogenase deficiency","Isovalericacidemia","isovaleryl-CoA dehydrogenase deficiency","ISPD autosomal recessive limb-girdle muscular dystrophy","ISPD-related LGMD R20","Ito's Nevus","ITP","IU","Ivemark II syndrome","Jabs syndrome","Jackson-Barr syndrome","Jacobs syndrome","Jacobsen syndrome, Isolated cases","JAE","Jagell-Holmgren-Hofer syndrome","JALS","Jancar syndrome","Jankovic-Rivera syndrome","Jansen Type Metaphyseal Chondrodysplasia","Japanese B encephalitis","Japanese river fever","Jarcho-Levin syndrome","JATD","jaw-winking","Jaw-winking syndrome","JBS","Jeavons syndrome","JEB inversa","JEB with pyloric atresia","JEB, generalised intermediate","JEB, generalised severe","JEB, generalized intermediate","JEB, generalized severe","JEB-H","JEB-Herlitz type","JEB-I","JEB-lo","JEB-nH loc","JEB-PA","Jeghers-Peutz syndrome","Jejunal atresia","Jejunoileal atresia","Jervell Lange-Nielsen syndrome","Jessner-Kanof lymphocytic infiltration of the skin","JET","Jeune asphyxiating thoracic dystrophy","JHD","JIP","JMADUE","JME","JNA","JOAG","Job syndrome","Job syndrome autosomal dominant","Johnson syndrome","Johnson-McMillin syndrome","Johnson-Munson syndrome","Joint instability syndrome","joint laxity, familial","Jones syndrome","JPG","JPLS","JPS","JPsA","JTA","Junctional ectopic tachycardia","Junctional epidermolysis bullosa generalisata gravis","Junctional epidermolysis bullosa generalisata mitis","Junctional epidermolysis bullosa, Disentis type","Junctional epidermolysis bullosa, Herlitz type","Junctional epidermolysis bullosa, Herlitz-Pearson type","Junctional epidermolysis bullosa, non-Herlitz localized type","Jussieu syndrome","Juvenile bone cyst","Juvenile Charcot disease","Juvenile DM","Juvenile ERA","Juvenile gastrointestinal polyposis","Juvenile hemochromatosis","Juvenile Huntington chorea","Juvenile idiopathic rheumatoid factor-positive polyarthritis","Juvenile intestinal polyposis","Juvenile Lou Gehrig disease","juvenile megaloblastic Anaemia","juvenile megaloblastic Anemia","juvenile multiple polyps syndrome","Juvenile muscular atrophy of distal upper extremity","Juvenile muscular atrophy of the distal upper limb","Juvenile myoclonus epilepsy","juvenile nasopharyngeal angiofibroma (disease)","juvenile osteochondrosis of foot","Juvenile osteoporosis","Juvenile parkinsonism-neuronal ceroid lipofuscinosis","Juvenile PLS","Juvenile polyarthritis with rheumatoid factor","Juvenile polyarthritis without rheumatoid factor","juvenile polyposis","Juvenile psoriatic arthritis","Juvenile rheumatoid factor-negative polyarthritis","juvenile sulfatidosis, Austin type","juvenile X-linked retinoschisis","Juvenile-onset multiple carboxylase deficiency","Juvenile-onset vitelliform macular dystrophy","JWS","JXG","K ATP associated developmental delay, epilepsy and neonatal diabetes","Kabuki make-up syndrome","Kahler disease","Kaler-Garrity-Stern syndrome","Kallin syndrome","Kantaputra mesomelic dysplasia","Kaplan-Plauchu-Fitch syndrome","Kaposi dermatosis","Kaposi disease","Kaposi's sarcoma (disease)","Kappa-chain deficiency","Kartagener syndrome","karyotype 45, X","Kaufman-Mckusick syndrome","Kawasaki syndrome","Kawashima syndrome","Kawashima-Tsuji syndrome","Kaya-Prontera syndrome","KdVS","Kedani fever","kEDS","Keipert syndrome, X-linked recessive","Kelley-Seegmiller syndrome","Kelly-Paterson syndrome","Kenya fever","Kenya tick typhus","Kenyan tick typhus","Keratitis Ichthyosis Deafness Syndrome","keratitis, Acanthamoeba","keratitis, autosomal dominant","Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome","Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome","Keratoderma with woolly hair type I","Keratoderma with woolly hair type II","keratoderma with wooly hair type I","keratoderma with wooly hair type II","keratoderma, palmoplantar, punctate type 3","Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome","Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type","Keratosis extremitatum hereditaria progrediens","Keratosis follicularis","Keratosis palmoplantar-periodontopathy syndrome","Keratosis palmoplantaris nummularis","Keratosis palmoplantaris striata","Keratosis palmoplantaris striata et areata","Keratosis palmoplantaris transgrediens et progrediens","keratosis palmoplantaris transgrediens of Siemens","Keratosis palmoplantaris varians of Wachters","Keratosis palmoplantaris with arrythmogenic cardiomyopathy","Keratosis palmoplantaris-corneal dystrophy syndrome","Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome","Keratosis palmoplantaris-esophageal carcinoma syndrome","Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome","keratosis pilaris decalvans","Kernicterus spectrum disorder","Ketoacidaemia","Ketoaciduria-intellectual disability-ataxia-deafness syndrome","Ketoaciduria-intellectual disability-ataxia-hearing loss syndrome","Ketoadipicaciduria","Ketohexokinase deficiency","Ketotic hyperglycinemia","Khalifa-Graham syndrome","KHM","KID/HID syndrome","Kidney dysplasia","kidney Wilms tumor","Kikuchi disease","Kindler syndrome","kinky hair disease","kinky hair syndrome","Kinsbourne syndrome","Kjer optic atrophy","Klatskin tumor","Kleiner-Holmes syndrome","KLICK syndrome","Klippel-Feil malformation","Klippel-Feil sequence","Klippel-Trenaunay-Weber syndrome","Klippel-Trenaunay-Weber syndrome, Isolated cases","Klippel-Trénaunay syndrome","KMS","KNO1","KNOBLOCH syndrome 1","Knobloch syndrome type 1","Knobloch-Layer syndrome","Kocher-Debré-Semelaigne syndrome","Koenig disease","Kohler disease","Kohlschütter-Tönz syndrome","Kok disease","Komuragaeri disease","KOS","Kosenow syndrome","Kosztolanyi syndrome","Kozlowski-Krajewska syndrome","KPTS","Krabbe's leukodystrophy","Krasnow-Qazi syndrome","Krause-Kivlin syndrome","Krause-van Schooneveld-Kivlin syndrome","KS","KSD","KTS","Kunze-Riehm syndrome","Kuskokwim disease","Kuzniecky syndrome","KWWH type I","KWWH type II","Kynureninase deficiency","kyphoscoliosis type","Kyphoscoliosis-lateral tongue atrophy-HSP syndrome","Kyphoscoliotic EDS","König disease","Küssmaul-Maier disease","L-2-HGA","L-2-hydroxyglutaric acidemia","L-CMD","L-CPT1 deficiency","L-CPTI deficiency","L-transposition of the great arteries","L-transposition of the great vessels","Laband syndrome","labile factor deficiency","Labrune syndrome","Lacrimo-auriculo-dento-digital syndrome","Lacrimoauriculodento-digital syndrome","Lacrimoauriculoradiodental syndrome","lactotrope adenoma","Lactotroph adenoma","lactotroph cell adenoma","LAD","LADD syndrome","Ladda-Zonana-Ramer syndrome","LAEB","Lagophthalmia-cleft lip and palate syndrome","LAL deficiency","LALD","LAM","LAMB","Lamb-Shaffer syndrome; LAMSHF","Lambert Eaton syndrome","LAMM syndrome","LAMSHF","Landing disease","Landing syndrome","Landouzy-Dejerine dystrophy","Landouzy-Dejerine myopathy","langer mesomelic dysplasia, pseudoautosomal recessive","Langer syndrome","Langer type mesomelic dysplasia","Langer-Giedion syndrome","Langer-Saldino achondrogenesis","Langerhans cell granulomatosis","Langerhans cell histiocytosis, NOS","Langerhans cell histiocytosis, Not otherwise specified","Laparoschisis","LARD syndrome","large congenital melanocytic nevus","Large/giant CMN syndrome","Large/giant congenital pigmented nevus","Larnygeotracheoesophageal cleft","Laron syndrome due to postreceptor defect","Laron-like syndrome","Laron-type dwarfism","Larsen-like syndrome, isolated cases","laryngeal atresia","laryngeal cleft","laryngeal neuroendocrine neoplasm","Laryngeal web","Laryngo-tracheo-esophageal cleft","Laryngo-tracheo-esophageal diastema","Laryngotracheal angioma","larynx NET","larynx neuroendocrine neoplasm","larynx neuroendocrine tumor","larynx neuroendocrine tumor, well differentiated, low or intermediate grade","larynx neuroendocrine tumour","Lassa hemorrhagic fever","Late hereditary endothelial dystrophy","Late-onset distal crystallinopathy","Late-onset JEB","Late-onset multiple carboxylase deficiency","late-onset Parkinson disease","late-onset primary lymphedema","Late-onset spinal motor neuronopathy","Laterofacial microsomia","Lattice corneal dystrophy type 1","Launois-Bensaude lipomatosis","Lawrence syndrome","Lawrence-Seip syndrome","Laxova-Opitz syndrome","LBSL","LBWC syndrome","LC","LCAH","LCC","LCCS1","LCD1","LCDI","LCH","LCHAD deficiency","LCHADD","LCM","LCPS","LDH deficiency","Lead intoxication","Learman syndrome","Leber Hereditary optic atrophy","Leber miliary aneurysm","Leber optic atrophy","Lecithin-cholesterol acyltransferase deficiency","LECT2 amyloidosis","Lederhose disease","Left renal vein entrapment syndrome","Left ventricular-to-right atrial communication","Leg duplication-mirror foot syndrome","Legg-Calve-Perthes symptom","Legg-Calve-Perthes syndrome","Legg-Perthes disease","Legionella pneumonia","Lehman syndrome","Leichtman-Wood-Rohn syndrome","Leigh disease","Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency","Leigh syndrome due to pyruvate carboxylase deficiency","Leigh syndrome spectrum","Leigh syndrome, French-Canadian type","Leigh syndrome, Saguenay-Lac-Saint-Jean type","Leiner disease","leiomyomatosis and renal cell cancer","Lens-induced endophthalmitis","Lens-induced iridocyclitis","Lens-induced uveitis","lentigines, atrial myxoma, mucocutaneous myoma, blue Nevus syndrome","Lenz dysplasia","Lenz microphthalmia","Lenz microphthalmia syndrome","Lenz-Majewski hyperostotic dwarfism","Lenz-Majewski syndrome","LEOPARD syndrome","Leprechaunism","Leptospira caused disease or disorder","Leptospira disease or disorder","Leptospira infectious disease","leri pleonosteosis chromosome duplication syndrome","Leri-Weill dyschondrosteosis, Pseudoautosomal dominant","Leri-Weill dyschondrostosis","Lesch-Nyhan syndrome, X-linked recessive","LET","lethal acantholytic epidermolysis bullosa","Lethal ataxia with hearing loss and optic atrophy","lethal congenital contracture syndrome 1","Lethal hydrocephalus-cardiac malformation-dense bones syndrome","Lethal hyperkeratosis-contracture syndrome","Lethal infantile mitochondrial disease","lethal osteosclerotic bone dysplasia","Lethal popliteal pterygium syndrome","Lethal restrictive dermopathy","Lethal tight skin-contracture syndrome","lethargic encephalitis","leukemia, acute promyelocytic, somatic","leukemia, erythroid, malignant","leukemia, megakaryoblastic, with or without Down syndrome, somatic","leukemia, monocytic, malignant","leukimia, chronic myeloid","Leukocyte chemotactic factor-2 amyloidosis","leukodystrophy caused by mutation in FAM126A","leukodystrophy caused by mutation in RARS","leukodystrophy, adult-onset, autosomal dominant","leukodystrophy, hypomyelinating, 12","leukodystrophy, hypomyelinating, type 12","leukodystrophy, hypomyelinating, type 5","leukodystrophy, hypomyelinating, type 9","Leukodystrophy, Krabbe's","leukoencephalopathy with axenfeld-rieger anomaly","Leukoencephalopathy with vanishing white matter","leukoencephalopathy, brain calcifications, and cysts","Leukoencephalopathy-metaphyseal chondrodysplasia syndrome","Leukoencephalopathy-SEMD syndrome","LEUKOMELANODERMA, infantilism, mental retardation, hypodontia, hypotrichosis","Leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome","Levic-Stefanovic-Nikolic syndrome","Levine-Critchley syndrome","levo-transposition of the great arteries","levo-transposition of the great vessels","Levy-Hollister syndrome","Lewandowsky-Lutz dysplasia","Lewandowsky-Lutz syndrome","Leyden-Moebius muscular dystrophy","leydig cell adenoma, somatic, with precocious puberty","LF","LFS","LFSS","LGCMN","LGMD D5 collagen 6-related dystrophy","LGMD D5 collagen VI-related dystrophy","LGMD due to alpha-sarcoglycan deficiency","LGMD due to beta-sarcoglycan deficiency","LGMD due to delta-sarcoglycan deficiency","LGMD due to dysferlin deficiency","LGMD due to gamma-sarcoglycan deficiency","LGMD R22 collagen 6-related dystrophy","LGMD R22 collagen VI-related dystrophy","LGMD type 1D","LGMD type 2A","LGMD type 2B","LGMD type 2C","LGMD type 2D","LGMD type 2E","LGMD type 2F","LGMD type 2H","LGMD type 2I","LGMD type 2K","LGMD type 2L","LGMD type 2N","LGMD type 2P","LGMD type 2Q","LGMD type 2S","LGMD type 2T","LGMD type 2U","LGMD type R24","LGMD1A","LGMD1D","LGMD2A","LGMD2B","LGMD2C","LGMD2D","LGMD2E","LGMD2F","LGMD2H","LGMD2I","LGMD2K","LGMD2L","LGMD2N","LGMD2P","LGMD2Q","LGMD2S","LGMD2T","LGMD2U","LGMD3","LGMDR4","LGS","LHON","LI","Li-Fraumeni familial cancer susceptibility syndrome","Lichen amyloidosus","Lichen follicularis","Lichen planus follicularis","Liebenberg syndrome","ligase 4 syndrome","Light-chain amyloidosis","limb, scalp and skull defects","Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency","Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency","Limb-girdle muscular dystrophy due to calpain deficiency","Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency","Limb-girdle muscular dystrophy due to dysferlin deficiency","Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency","Limb-girdle muscular dystrophy type 1D","Limb-girdle muscular dystrophy type 2A","Limb-girdle muscular dystrophy type 2B","Limb-girdle muscular dystrophy type 2C","Limb-girdle muscular dystrophy type 2D","Limb-girdle muscular dystrophy type 2E","Limb-girdle muscular dystrophy type 2F","Limb-girdle muscular dystrophy type 2H","Limb-girdle muscular dystrophy type 2I","Limb-girdle muscular dystrophy type 2K","Limb-girdle muscular dystrophy type 2L","Limb-girdle muscular dystrophy type 2N","Limb-girdle muscular dystrophy type 2P","Limb-girdle muscular dystrophy type 2Q","Limb-girdle muscular dystrophy type 2S","Limb-girdle muscular dystrophy type 2T","Limb-girdle muscular dystrophy type 2U","Limb-girdle muscular dystrophy type R24","Limb-girdle muscular dystrophy with epidermolysis bullosa simplex","Limb-girdle muscular dystrophy with Paget disease of bone","Limb-girdle muscular dystrophy-intellectual disability syndrome","Limbic encephalitis with N-methyl-D-aspartate receptor antibodies","Limbic encephalitis with NMDA receptor antibodies","Limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome","LIMD","Limit dextrinosis","LIMM","Lindau disease","Lindsay-Burn syndrome","Linear hamartoma syndrome","linear sebaceous Nevus","linear skin defects with multiple congenital anomalies","linear skin defects with multiple congenital anomalies type 1","Lionitis","lip Pseudocleft-Hemangiomatous branchial cyst syndrome","lip sarcoma","Lip-pit syndrome","lipid proteinosis","Lipoatrophia semicircularis","Lipoatrophy caused by injected drug","lipochondrodystrophy","Lipodystrophia centrifugalis abdominalis infantilis","lipodystrophy, cephalothoracic","Lipodystrophy-intellectual disability-hearing loss syndrome","Lipodystrophy-Rieger anomaly-diabetes syndrome","lipogranulomatosis","lipoid adrenal hyperplasia","Lipoid CAH","Lipoid dermatoarthritis","lipoid histiocytosis (kerasin type)","Lipomatosis dolorosa","lipomatosis, familial benign cervical","Lipomucopolysaccharidosis","lipoproteinosis","liposarcoma, malignant","LIS","LIS3","Lisker-Garcia-Ramos syndrome","Lison syndrome","lissencephaly 3","Lissencephaly due to 17p13.3 deletion","Lissencephaly type 2 without muscular or eye involvement","Lissencephaly type 2 without muscular or ocular involvement","lissencephaly type 5","lissencephaly, X-linked","lissencephaly, X-linked, type 1","lissencephaly, X-linked, type 2","Listeria infection","Listeria monocytogenes caused disease or disorder","Listeria monocytogenes disease or disorder","Listeria monocytogenes infectious disease","Livedo racemosa-cerebrovascular accident syndrome","Livedo reticularis with summer ulcerations","Livedo reticularis-cerebrovascular accident syndrome","livedoid vasculitis","Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome","Liver glycogen phosphorylase deficiency","liver glycogen storage disease due to glycogen synthase deficiency","liver neuroendocrine cancer","liver neuroendocrine carcinoma","liver veno-occlusive disease","LKS","LLS","LMPH1A","LMPH2","LMS","Lobstein disease","LOC syndrome","localised deciduous skin","localised epidermolysis bullosa simplex","localised fibrosing scleroderma","localised fibrous mesothelioma","localised fibrous tumour","localised PSS","localised scleroderma (disorder) [ambiguous]","localized deciduous skin","Localized EBS","Localized fibrosing scleroderma","localized fibrous mesothelioma","localized fibrous tumor","Localized JEB","localized morphoea","Localized PSS","localized scleroderma (disorder) [ambiguous]","locked-in state","Loeffler syndrome","Loeys-Dietz syndrome type 3","Loffler syndrome","LOGIC syndrome","long bone adamantinoma","long bone deficiencies associated with cleft lip-palate","Long eyelashes-intellectual disability syndrome","Long QT interval-deafness syndrome","Long QT interval-hearing loss syndrome","long QT syndrome 7","Long QT syndrome type 7","Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency","LOPD","Lopes-Marques de Faria syndrome","LORD","LOSMoN","Lou Gehrig disease","Loucks-Innes syndrome","Louis-Bar syndrome","Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis","Lowe disease","Lowe oculo-cerebro-renal dystrophy","Lowe oculo-cerebro-renal syndrome","Lowe oculocerebrorenal dystrophy","Lowe oculocerebrorenal syndrome","Lowe syndrome","Lowe syndrome, X-linked recessive","Lowry-Yong syndrome","LP pemphigoides","LPAC","LPI","LPP","LQT7","LQTS","LS","LSS","LTEC","Lubag","Lubag syndrome","Lubani-Al Saleh-Teebi syndrome","Lubinsky syndrome","Lubs X-linked intellectual disability syndrome","Lubs X-linked mental retardation syndrome","Lujan syndrome","Lujan-Fryns syndrome, X-linked recessive","Lunatomalacia","Lundberg syndrome","lung blastoma","lung lymphangioleiomyomatosis","lung lymphangiomyomatosis","lupus erythematosus, systemic","Luscan-Lumish syndrome; LLs","Luteinizing hormone-releasing hormone deficiency with ataxia","Lutz-Lewandowsky epidermodysplasia verruciformis","LWD","LWS","Lyme borreliosis","lymphedema, early-onset","lymphedema, hereditary, 1A","lymphedema, hereditary, type 1A","lymphedema, microcephaly and chorioretinopathy syndrome","Lymphedema-hypoparathyroidism syndrome","Lymphedema-lymphangiectasia-intellectual disability syndrome","Lymphocytic Infiltrate of Jessner","lymphocytic interst. pneumonitis","Lymphocytic interstitial pneumonia","lymphocytic interstitial pneumonitis","lymphoma of mucosa-associated lymphoid tissue","lymphoma of the thyroid","lymphoma of the thyroid gland","lymphoma of thyroid","lymphoma of thyroid gland","lymphoma, follicular center cell","lymphoma, follicular centre cell","lymphoma, follicular, malignant","lymphoma, MALT, somatic","lymphoproliferative syndrome, X-linked, 2, X-linked recessive","lymphoproliferative syndrome, X-linked, type 2","Lynch-Lee-Murday syndrome","Lyngstadaas syndrome","Lysine alpha-ketoglutarate reductase deficiency","Lysosomal alpha-D-mannosidase deficiency","lysosomal beta-mannosidase deficiency","Lysosomal glycogen storage disease with normal acid maltase activity","lyssa","Léri-Weill syndrome","M-A","M6 acute myeloid leukaemia","M6 acute myeloid leukemia","MAA, formerly","Mabry syndrome","Mac Duffie hypocomplementemic urticarial vasculitis","Mac Duffie syndrome","MacDermot-Patton-Williams syndrome","MacDermot-Winter syndrome","Machado disease","Machado-Joseph disease","Mackay-Shek-Carr syndrome","macrocephaly, macrosomia, and facial dysmorphism syndrome","Macrocephaly-alopecia-cutis laxa-scoliosis syndrome","Macrocephaly-capillary malformation syndrome","Macrocephaly-cutis marmorata telangiectatica congenita syndrome","Macrocephaly-obesity-intellectual disability-ocular abnormalities syndrome","macrocephaly-obesity-mental disability-ocular abnormalities syndrome","macrocytic anemia, refractory, due to 5q deletion, somatic","Macrodactyly of foot","Macrodactyly of hand","macroencephaly","Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome","macrothrombocytopenia and progressive sensorineural deafness","macrothrombocytopenia progressive deafness","MACS syndrome","macular degeneration, polymorphic vitelline","macular dystrophy, vitelliform, type 2","macular dystrophy, vitelliform, type 3","MAD","MAD deficiency","MADD","Madelung disease","Madura foot","MAE","Maeda syndrome","Maffucci type enchondromatosis","Maffucci's anomalad","Maghrebian myopathy","Mahvash disease","Majewski osteodysplastic primordial dwarfism type II","major histocompatibility complex class II expression deficiency","Malattia leventinese","Male infertility due to chromosome Y microdeletion","Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency","Male sterility due to chromosome Y deletion","Male-limited precocious puberty","malignant brain rhabdoid neoplasm","malignant brain rhabdoid tumor","malignant brain rhabdoid tumour","Malignant carcinoid syndrome","malignant fibrous cytoma","malignant fibrous histiocytoma","malignant fibrous histiocytoma of soft tissue and bone","malignant fibrous histiocytoma of the soft tissue and bone","malignant fibroxanthoma","malignant hyperpyrexia","malignant hyperpyrexia due to anaesthesia","malignant hyperthermia","malignant hyperthermia syndrome","Malignant hyperthermia-arthrogryposis-torticollis syndrome","malignant mesothelial tumor","malignant mesothelial tumour","malignant mesothelioma","malignant mesothelioma (disease)","malignant mesothelioma (disease) of peritoneum","Malignant migrating partial epilepsy of infancy","malignant migrating Partial seizures in infancy","Malignant migrating partial seizures of infancy","malignant neoplasm of mesothelium","malignant neoplasm of the mesothelium","Malignant paroxysmal ventricular tachycardia","malignant peritoneal mesothelioma, advanced","malignant rhabdoid neoplasm of brain","malignant rhabdoid neoplasm of the brain","Malignant rhabdoid tumor","malignant rhabdoid tumor of brain","malignant rhabdoid tumor of the brain","malignant rhabdoid tumour of brain","malignant rhabdoid tumour of the brain","malignant thymoma","malignant tumor of mesothelium","malignant tumor of the mesothelium","malignant tumour of mesothelium","malignant tumour of the mesothelium","malignant vasoactive intestinal peptide-secreting tumour","Malonic acidemia","Malonyl-CoA decarboxylase deficiency","Malouf syndrome","Malpuech-Michels-Mingarelli-Carnevale syndrome","MALT1 wt allele","Maltase-glucoamylase deficiency","MALToma","Man5GlcNAc2-PP-Dol flippase deficiency","Mandibulo-palpebral synkinesis-ptosis syndrome","mandibuloacral dysplasia with lipodystrophy","mandibulofacial dysostosis with microcephaly","Mandibulofacial dysostosis with postaxial limb anomalies","Mandibulofacial dysostosis with preaxial limb anomalies","Mandibulofacial dysostosis, Guion-Almeida type","Mandibulofacial dysostosis, Toriello type","mandibulofacial dysostosis, X-linked","Manganese intoxication","Manganism","Manitoba oculotrichoanal syndrome","mannosidosis, alpha-, types I and II","mannosidosis, beta","Mannosyltransferase 1 deficiency","Mannosyltransferase 2 deficiency","Mannosyltransferase 6 deficiency","Mannosyltransferase 7-9 deficiency","Mannosyltransferase 8 deficiency","Mantle zone lymphoma","MAP","Marble brain disease","Marburg disease","Marburg virus disease","Marchiafava-Micheli disease","Marcus-Gunn phenomenon","Marden-Walker-like syndrome","Mardini-Nyhan syndrome","Marfan syndrome type 1","Marfanoid craniosynostosis syndrome","Marie Unna congenital hypotrichosis","marker X syndrome","Marles syndrome","Marles-Greenberg-Persaud syndrome","Maroteaux Lamy Syndrome","Maroteaux-Lamy disease","Maroteaux-Malamut syndrome","Maroteaux-Stanescu-Cousin syndrome","Maroteaux-Verloes-Stanescu syndrome","marseilles fever","Marshall syndrome with periodic fever","Martin-Bell syndrome","Martin-Probst syndrome","martin-probst syndrome, X-linked recessive","Martsolf syndrome","MAS","Mast syndrome","Mastocytosis-short stature-deafness syndrome","Mastocytosis-short stature-hearing loss syndrome","MAT","Maternal hyperphenylalaninemia","maternal PKU","Maternal PKU syndrome","maternal uniparental disomy chromosome 14 syndrome","maternal uniparental disomy of chromosome type 1","maternal uniparental disomy of chromosome type 2","maternal uniparental disomy of chromosome type 20","maternal uniparental disomy of chromosome type 4","maternal uniparental disomy of chromosome type 6","maternal uniparental disomy of chromosome type 9","maternal uniparental disomy of chromosome type X","Maternal UPD(20)","Maternally-inherited cardiomyopathy and deafness","Maternally-inherited chronic progressive external ophthalmoplegia","Maternally-inherited CPEO","Maternally-inherited infantile subacute necrotizing encephalopathy","Maternally-inherited Leigh disease","Maternally-inherited spastic paraplegia","Maternally-inherited SPG","Mathieu-De Broca-Bony syndrome","MATINS","Maturity-onset diabetes of the young","maturity-onset diabetes of the young (disease)","Maumenee corneal dystrophy","Maxillonasal dysostosis","Maxillopalpebral synkinesis","May-Hegglin anomaly","Mazzanti syndrome","MBD","MBS","MC","MC-HGA","MC5DN2","MCA due to 14q32.2 maternally expressed gene defect","MCAD","MCAD deficiency","MCADD","MCAHS type 3","MCAP","McArdle disease","MCC","MCC deficiency","MCCD","mccune-albright syndrome, somatic, mosaic","MCD","MCDK","MCDS","MCDU","McDuffie hypocomplementemic urticarial vasculitis","McDuffie syndrome","mcEDS","McGrath syndrome","McKusick Type Metaphyseal Chondrodysplasia","MCL","MCLMR","MCM","MCMTC","MCOPS1","MCOPS10","MCOPS3","MCOPS4","MCOPS4, formerly","MCOPS6","MCOPS7","MCOPS8","MCOPS9","McPherson-Clemens syndrome","MCS","MCT8 deficiency","MCT8-specific thyroid hormone cell Membrane transporter deficiency","MCT8-Specific Thyroid Hormone Cell Transporter Deficiency","MCTD","MCUL","MD","MD1","MDC1A","MDCDC","MdD","MDDGA4","MDDGC1","MDDGC14","MDDGC2","MDDGC5","MDDGC7","MDDGC9","MdDS","MDK","MDS with excess blasts","MDS with ring sideroblasts","MDS with single lineage dysplasia","MDS-EB","MDS-IB","MDS-LB","MDS-RS","MDS-SLD","MDSC","MEA type 1","MEA type I","Meacham-Winn-Culler syndrome","MEB disease with bilateral multicystic leucodystrophy","MEB syndrome","MEBAS","Meckel syndrome type 7","Meckel-Gruber syndrome","Meckel-like syndrome type 1","meconium aspiration","MECRCN","MED1","MED4","MED5","MEDAC syndrome","Medeira-Dennis-Donnai syndrome","median cleft of the upper lip-corpus callosum lipoma-cutaneous polyps syndrome","Medina worm disease","Medinensis","Mediterranean anaemia","Mediterranean anemia","Mediterranean spotted fever","Mediterranean tick fever","Medium chain acyl-coenzyme A dehydrogenase deficiency","medullary carcinoma","medullary carcinoma of the thyroid","medullary carcinoma of the thyroid gland","medullary carcinoma of thyroid","medullary carcinoma of thyroid gland","medullary cystic kidney","Medullary plasmacytoma","medullary thyroid cancer","medullary thyroid gland carcinoma","medulloblastoma, autosomal recessive, autosomal dominant, somatic mutation","medulloblastoma, malignant","medulloblastoma, somatic","medulloblastomas","Megacolon-microcephaly syndrome","Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome","Megaduodenum and/or megacystis","Megalencephalic leukodystrophy","megalencephalic leukoencephalopathy with subcortical cysts type 1","megalencephaly","megalencephaly (disease)","Megalencephaly-Capillary Malformation","Megalencephaly-capillary malformation syndrome","megalencephaly-capillary malformation-polymicrogyria syndrome, somatic","Megalencephaly-cutis marmorata telangiectatica congenita syndrome","Megalencephaly-cystic leukodystrophy syndrome","MEGCANN","MEGDEL","Mehes syndrome","MEHMO","MEHMO syndrome, X-linked recessive","MEI","Meier-Gorlin syndrome","Meige lymphedema","Melanesian elliptocytosis","Melanesian ovalocytosis","melanocytic nevus syndrome, congenital, somatic","Melanoma-pancreatic cancer syndrome","melanosis lenticularis progressiva","MELAS syndrome","Meleda disease","Melkersson's syndrome","Melnick-Fraser syndrome","Melnick-Needles osteodysplasty","Melnick-Needles syndrome, X-linked dominant","melorheostosis, isolated, somatic mosaic","membranous nephropathy - Idiopathic","men 1","men type 1","men type I","MEN2","MEN4","MEND syndrome, X-linked recessive","Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency","Mengel-Konigsmark syndrome","meningioma (disease)","menkes disease, X-linked recessive","Menkes kinky hair disease","Menkes kinky hair syndrome","Menkes syndrome","mental retardation and microcephaly with PONTINE and cerebellar hypoplasia","mental retardation syndrome, X-linked, armfield type, X-linked recessive","mental retardation with chorioathetosis and abnormal behavior","mental retardation with chorioathetosis and abnormal behaviour","mental retardation with psychosis, pyramidal signs, and macroorchidism","mental retardation, autosomal dominant 21","mental retardation, autosomal dominant 26","mental retardation, autosomal dominant type 17","mental retardation, autosomal dominant type 18","mental retardation, autosomal dominant type 19","mental retardation, autosomal dominant type 21","mental retardation, autosomal dominant type 26","mental retardation, autosomal dominant type 32","mental retardation, autosomal dominant type 37","mental retardation, autosomal dominant type 7","mental retardation, autosomal recessive 49","mental retardation, autosomal recessive 53","mental retardation, autosomal recessive 55","mental retardation, autosomal recessive type 36","mental retardation, autosomal recessive type 37","mental retardation, autosomal recessive type 39","mental retardation, autosomal recessive type 40","mental retardation, autosomal recessive type 41","mental retardation, autosomal recessive type 48","mental retardation, autosomal recessive type 49","mental retardation, autosomal recessive type 53","mental retardation, autosomal recessive type 55","mental retardation, autosomal recessive, 37","mental retardation, microcephaly, epilepsy, and ataxia syndrome","mental retardation, truncal obesity, retinal dystrophy, and micropenis","mental retardation, X-linked 15","mental retardation, X-linked 98","mental retardation, X-linked type 12","mental retardation, X-linked type 98","mental retardation, X-linked, syndromic 10","mental retardation, X-linked, syndromic 12","mental retardation, X-linked, syndromic 13","mental retardation, X-linked, syndromic 15 (Cabezas type), X-linked recessive","mental retardation, X-linked, syndromic 17","mental retardation, X-linked, syndromic 17, X-linked recessive","mental retardation, X-linked, syndromic 28","mental retardation, X-linked, syndromic 32","mental retardation, X-linked, syndromic 34","mental retardation, X-linked, syndromic 4","mental retardation, X-linked, syndromic 6","mental retardation, X-linked, syndromic 9","mental retardation, X-linked, syndromic type 10","mental retardation, X-linked, syndromic type 13","mental retardation, X-linked, syndromic type 32","mental retardation, X-linked, syndromic type 34","mental retardation, X-linked, syndromic, Borck type","mental retardation, X-linked, syndromic, Claes-Jensen type","mental retardation, X-linked, syndromic, Hedera type","mental retardation, X-linked, syndromic, Martin-Probst type","mental retardation, X-linked, syndromic, Najm type","mental retardation, X-Linked, syndromic, Van Esch-O'Driscoll type","mental retardation, X-linked, with gynecomastia and obesity","mental retardation, X-linked, with recurrent respiratory infections","mental retardation, X-linked, with short stature","mental retardation-skeletal dysplasia","mental retardation-truncal obesity-retinal dystrophy-micropenis syndrome","mercer-Ba syndrome","Mercurialism","Mercury intoxication","meretoja syndrome","Merkel cell cancer","Merkel cell carcinoma","Merkel cell tumor","Merkel cell tumour","merosin-deficient congenital muscular dystrophy type 1A","Merosin-negative congenital muscular dystrophy","MERRF syndrome","Mesangiocapillary glomerulonephritis","Mesodermic dysplasia","Mesoectodermal dysplasia","Mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type","Mesomelic dwarfism, Langer type","Mesomelic dwarfism, Nievergelt type","Mesomelic dwarfism-small genitalia syndrome","Mesomelic dysplasia with absent fibulas and triangular tibias","Mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type","Mesomelic dysplasia, Kozlowski-Reardon type","Mesomelic dysplasia, Reardon type","Mesomelic dysplasia, Thai type","mesothelioma, malignant","mesothelioma, somatic","metaphyseal chondrodysplasia murk Jansen type","Metaphyseal chondrodysplasia, McKusick type","Metaphyseal dysostosis-intellectual disability-conductive hearing loss syndrome","Metaphyseal dysplasia, Pyle type","metaphyseal enchondrodysplasia with 2-hydroxyglutaric aciduria","metaphyseal enchondromatosis with D-2-hydroxyglutaric aciduria","metaplastic thyroid gland carcinoma","Metatropic dwarfism","Metatropic Dysplasia I","Methacrylic aciduria","Methimazole/carbimazole embryofetopathy","Methimazole/carbimazole embryopathy","Methyl mercury antenatal infection","Methylcobalamin deficiency","Methylcrotonyl-CoA carboxylase deficiency","Methylene tetrahydrofolate reductase deficiency","methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency","methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency","Methylmalonic aciduria with homocystinuria","Methylmalonyl-CoA mutase deficiency","Methylmalonyl-Coenzyme A mutase deficiency","Metopic ridging-ptosis-facial dysmorphism syndrome","Meyer dysplasia","Meyer-Schwickerath syndrome","Meyer-Schwickerath-Weyers syndrome","MF","MFDM syndrome","MFH","MFM-titinopathy","MFM5","MFS","MFS1","MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome","MGA1","MGA2","MGA3","MGA4","MGA5","MGA7","MGA9","MGCA4","MGCA5","MGCA6","MGCA7","MHA","MHBD deficiency","MHC class II deficiency","MHC class II expression deficiency","MHF","MICPCH","MICPCH syndrome","microcephalic osteodysplastic dysplasia","Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type","Microcephalic primordial dwarfism, Alazami type","Microcephalic primordial dwarfism, Walsh type","microcephaly and chorioretinopathy 1","microcephaly and chorioretinopathy type 1","microcephaly and chorioretinopathy, autosomal recessive, type 1","microcephaly, hiatal hernia and nephrotic syndrome","microcephaly, lymphedema, chorioretinal dysplasia syndrome","Microcephaly-cerebral malformation-orofaciodigital syndrome","Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome","Microcephaly-digital anomalies-normal intelligence syndrome","Microcephaly-hearing loss-intellectual disability syndrome","Microcephaly-hiatus hernia-nephrotic syndrome","Microcephaly-hypogammaglobulinemia-abnormal immunity syndrome","Microcephaly-immunodeficiency-lymphoid malignancy syndrome","Microcephaly-intellectual disability-tracheoesophageal fistula syndrome","Microcephaly-intracranial calcification-intellectual disability syndrome","Microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome","Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome","Microcoria-congenital nephrosis syndrome","microdeletion 17q21.31 syndrome","Microdeletion 22q11.2","Microdeletion 9q22.3","Microdeletion of the AZF region on the Y chromosome","Microdontia-type I microtia-deafness syndrome","Microdontia-type I microtia-hearing loss syndrome","Microduplication 17p12","Microform HPE","micrognathia digital syndrome","microphthalmia syndromic 2","microphthalmia syndromic 4","microphthalmia syndromic 9","microphthalmia with ankyloblepharon and intellectual disability","microphthalmia with ankyloblepharon and mental retardation","Microphthalmia with facial clefting","microphthalmia, syndromic 1","microphthalmia, syndromic 2, X-linked dominant","microphthalmia, syndromic 4, formerly","microphthalmia, syndromic type 1","microphthalmia, syndromic type 2","microphthalmia, syndromic type 3","microphthalmia, syndromic type 6","Microphthalmia-dermal aplasia-sclerocornea syndrome","Micropolyangiitis","Microscopic polyarteritis","Microsporidia caused disease or disorder","Microsporidia disease or disorder","Microsporidia infection","Microsporidia infectious disease","microtia, congenital","microtia-anotia","Microtia-aortic arch syndrome","microtias, congenital","Microvillous inclusion disease","MIDAS syndrome","middle ear NET","middle ear neuroendocrine neoplasm","middle ear neuroendocrine tumor, well differentiated, low or intermediate grade","Midline carcinoma of children and Young adults with NUT rearrangement","Mievis-Verellen-Dumoulin syndrome","Migrating partial epilepsy of infancy","migrating Partial seizures in infancy","Migrating partial seizures of infancy","Mild form of COL6-related dystrophy","Mild form of collagen VI-related dystrophy","Mild nemaline myopathy","Mild PBD-ZSD","Mild peroxisome biogenesis disorder-Zellweger spectrum disorder","Miles-Carpenter syndrome","Miles-CARPENTER X-linked mental retardation syndrome","Milian atrophie blanche","Miller Fisher variant of Guillain Barre syndrome","Miller syndrome","Miller-Dieker lissencephaly syndrome","MILS","MINAT","MINDS syndrome","Mineralocorticoid resistant hyperkalemia","Minkowski-Chauffard disease","Minoxidil antenatal exposure","minoxidil antenatal infection","MIRAS","Mirror hands and feets-nasal defects syndrome","mitochondrial acetoacetyl-CoA thiolase deficiency","Mitochondrial acetoacetyl-coenzyme A thiolase deficiency","mitochondrial complex I deficiency, nuclear type 20","mitochondrial complex II deficiency, nuclear type 1","mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian)","mitochondrial complex V (ATP synthase) deficiency, nuclear type 2","Mitochondrial DNA deletion syndrome with limb-girdle weakness","Mitochondrial DNA deletion syndrome with progressive myopathy","mitochondrial DNA depletion syndrome 10","mitochondrial DNA depletion syndrome 11","mitochondrial DNA depletion syndrome 4A","mitochondrial DNA depletion syndrome 5","mitochondrial DNA depletion syndrome 7 (hepatocerebral type)","mitochondrial DNA depletion syndrome 9","mitochondrial DNA depletion syndrome type 11","mitochondrial DNA depletion syndrome type 2","mitochondrial DNA depletion syndrome type 4a","mitochondrial DNA depletion syndrome type 5","mitochondrial DNA depletion syndrome type 7","mitochondrial DNA depletion syndrome type 9","Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency","Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency","Mitochondrial encephalomyopathy due to COXPD6","mitochondrial encephalomyopathy, lactic acidosis and stroke","Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes","Mitochondrial encephalomyopathy-aminoacidopathy syndrome","Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes","Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome","mitochondrial myopathy and sideroblastic anaemia","mitochondrial myopathy with diabetes","mitochondrial myopathy with lactic acidosis","Mitochondrial myopathy with reversible complex IV deficiency","Mitochondrial myopathy with reversible COX deficiency","Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes","mitochondrial myopathy, lipid type","Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome","Mitochondrial myopathy-lactic acidosis-hearing loss syndrome","Mitochondrial Neurogastrointestinal Encephalopathy","mitochondrial Neurogastrointestingal encephalopathy","mitochondrial Protein-associated neurodegeneration","mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)","mitochondrial respiratory chain complex I deficiency","Mitochondrial spinocerebellar ataxia with epilepsy","Mitochondrial tryptophanyl-tRNA synthetase deficiency","Mitral regurgitation-deafness-skeletal anomalies syndrome","Mitral regurgitation-hearing loss-skeletal anomalies syndrome","Mixed AIHA","Mixed cryoglobulinemia","Mixed renal tubular acidosis","Mixed RTA","Mixed sclerosing bone dystrophy","Miyoshi distal myopathy","Miyoshi muscular dystrophy","Miyoshi muscular dystrophy 3","Miyoshi muscular dystrophy type 3","MJD","Mk","MKS7","ML 3 alpha/beta","ML 4","ML III alpha/beta","ML IV","ML4","MLA","MLASA","MLC","MLCRD","MLCRD syndrome","MLD","MLIII","MLIV","MLS syndrome","MLT","MLT1","MM","MmD","MMD3","MMDS1","MMDS2","MMDS3","MMDS4","MMDS5","MMF","MMF embryopathy","MMFD","MMI/CMZ embryofetopathy","MMI/CMZ embryopathy","MMIHS","MMN","MMNCB","MMND","MMPEI","MMPSI","MMR syndrome","MMT","MNG1","MNGIE","MNK","MNKES","MOBA syndrome","MODED syndrome","Moebius axonal neuropathy hypogonadism","Moebius sequence","Moersch-Woltman syndrome","Moeschler-Clarren syndrome","Mohr syndrome","Mohr-Majewski syndrome","Mohr-Tranebjaerg syndrome, X-linked recessive","Mohr-Wriedt type brachydactyly","Molar pregnancy","Moloney syndrome","MOMES syndrome","MONA spectrum","Moniliform hair syndrome","Monocarboxylate transporter 8 deficiency","monocytic leukemia, acute","monocytopenia and mycobacterial infection syndrome","monogenic diabetes of infancy","Monogenic SRNS","MonoMAC","Mononeuritis multiplex with brachial predilection","Monosomy 10q22.3q23.3","Monosomy 10qter","Monosomy 11p13","monosomy 11q22.2-q22.3","Monosomy 11q22.2q22.3","Monosomy 11qter","Monosomy 12q14","Monosomy 12qter","Monosomy 13q12.3","Monosomy 13q32","Monosomy 14q11.2","Monosomy 14q22-q23","Monosomy 14q22q23","Monosomy 14q24.1q24.3","Monosomy 15q11.2","Monosomy 15q13.3","Monosomy 15q26","monosomy 16p11.2-p12.2","Monosomy 16p11.2p12.2","Monosomy 16p13.11","Monosomy 16q24.3","Monosomy 17p13.3","monosomy 17q11","Monosomy 17q12","monosomy 17q23.1-q23.2","Monosomy 17q23.1q23.2","Monosomy 17qter","Monosomy 19p13.12","Monosomy 19p13.13","Monosomy 19q13.11","Monosomy 1p21.3","Monosomy 1p31p32","Monosomy 1p36","Monosomy 1pter","Monosomy 1q21.1","monosomy 1q41-q42","Monosomy 1q41q42","Monosomy 1q44","Monosomy 1qter","Monosomy 20p12.3","Monosomy 20p13","Monosomy 20q11","Monosomy 20q13.33","monosomy 21q22.11-q22.12","Monosomy 21q22.11q22.12","Monosomy 22q11","monosomy 2p15-p16.1","Monosomy 2p15p16.1","Monosomy 2p21","Monosomy 2q23.1","Monosomy 2q31.1","monosomy 2q32-q33","Monosomy 2q32q33","monosomy 2q37-qter","Monosomy 2q37qter","monosomy 3p25.3","Monosomy 3pter","Monosomy 3q13","Monosomy 3q29","Monosomy 3qter","Monosomy 4q21","Monosomy 5q22 syndrome","Monosomy 5q35","Monosomy 6p22","Monosomy 6p25","Monosomy 6pter","Monosomy 6q16","Monosomy 6q25.2q25.3","Monosomy 7q11.23","Monosomy 7q31","Monosomy 7qter","Monosomy 8p11.2","Monosomy 8p23.1","Monosomy 8q13","Monosomy 8q21.11","Monosomy 8q22.1","monosomy 8q24.1","Monosomy 8q24.3","monosomy 9p","Monosomy 9p13","Monosomy 9pter","Monosomy 9q31.1q31.3","monosomy 9q33.3-q34.11","Monosomy 9q33.3q34.11","monosomy type 13q14","monosomy type 13q34","monosomy type 18p","monosomy type 18q","monosomy type 21","monosomy type 22","monosomy type 5p","monosomy type 9p","Monosomy Xq21","Montgomery syndrome","MOPD type II","MOPD types I and III","Morava-Mehes syndrome","Morbus Behçet's syndrome","Morning glory syndrome","morphea","Morquio disease","Morquio syndrome","Morse-Rawnsley-Sargent syndrome","Morvan fibrillary chorea","Mosaic trisomy chromosome 1","Mosaic trisomy chromosome 12","Mosaic trisomy chromosome 14","Mosaic trisomy chromosome 15","Mosaic trisomy chromosome 16","Mosaic trisomy chromosome 17","Mosaic trisomy chromosome 2","Mosaic trisomy chromosome 20","Mosaic trisomy chromosome 3","Mosaic trisomy chromosome 7","Mosaic trisomy chromosome 8","Mosaic trisomy chromosome 9","Mosaic trisomy type 1","Mosaic trisomy type 12","Mosaic trisomy type 14","Mosaic trisomy type 15","Mosaic trisomy type 16","Mosaic trisomy type 17","Mosaic trisomy type 2","Mosaic trisomy type 20","Mosaic trisomy type 3","Mosaic trisomy type 7","Mosaic trisomy type 8","Mosaic trisomy type 9","Moschcowitz disease","Moschowitz disease","MOTA syndrome","Mother-to-child transmission of cytomegalovirus syndrome","Mother-to-child transmission of enterovirus infection","Mother-to-child transmission of herpes simplex virus infection","Mother-to-child transmission of parvovirus syndrome","Mother-to-child transmission of rubella syndrome","Mother-to-child transmission of syphilis","Mother-to-child transmission of toxoplasmosis","Mother-to-child transmission of varicella syndrome","Mousa-Al Din-Al Nassar syndrome","mouth and genital ulcers with inflamed cartilage","Mouth and genital ulcers-inflamed cartilage syndrome","moyamoya 6 with achalasia","moyamoya disease 4, X-linked recessive","Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism","MPA","MPAN","MPD1","MPD3","MPD5","MPEI","MPGN","MPPC syndrome","MPPH syndrome","MPS 2","MPS II","MPS with skin involvement","MPS1","MPS2","MPS3","MPS4","MPS6","MPS7","MPS9","MPSI","MPSII","MPSIII","MPSIV","MPSIX","MPSPS","MPSVI","MPSVII","MRD17","MRD18","MRD19","MRD21","MRD26","MRD32","MRD37","MRD44","MRD7","MRFACD","MRKH","MRKH syndrome","MRSS","MRT53","MRT55","MRX49","MRX59","MRX98","MRXE","MRXS10","MRXS11","MRXS13","MRXS15","MRXS18","MRXS20","MRXS21","MRXS25","MRXS28","MRXS32","MRXS34","MRXS4","MRXS6","MRXS7","MRXS9","MRXSA","MRXSAB","MRXSARTS","MRXSBFL","MRXSBRK","MRXSC","MRXSCH","MRXSCJ","MRXSH","MRXSJ","MRXSL","MRXSML","MRXSSD","MSA","MSBD syndrome","MSCAE","MSD","Mseleni joint disease","MSK","MSMD due to complete interleukin 12 receptor beta 1 deficiency","MSMD due to partial interferon regulatory factor 8 deficiency","MSSD","MSUD","MTC","MTCT of syphilis","mtDNA deletion syndrome with limb-girdle weakness","mtDNA deletion syndrome with progressive myopathy","mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria","mtDNA depletion syndrome, myopathic form","mtDNA-associated Leigh syndrome","mtDNA-related cardiomyopathy and deafness","mtDNA-related cardiomyopathy and hearing loss","mtDNA-related progressive external ophthalmoplegia","MTM","mucinous ascites","Mucocutaneous lymph node syndrome","mucoepithelial dysplasia, hereditary","mucolipidosis I","Mucolipidosis IV","mucolipidosis type 3 alpha/beta","mucolipidosis type 4","Mucolipidosis type II alpha/beta","Mucopoly-saccharidosis type 3","mucopolysaccharidosis II, X-linked recessive","Mucopolysaccharidosis IV","Mucopolysaccharidosis type 9","Mucopolysaccharidosis type I","Mucopolysaccharidosis type II","Mucopolysaccharidosis type III","Mucopolysaccharidosis type IV","Mucopolysaccharidosis type IX","Mucopolysaccharidosis type VI","mucopolysaccharidosis type VI (Maroteaux-Lamy)","Mucopolysaccharidosis type VII","mucopolysaccharidosis with skin involvement","mucopolysaccharidosis, mps-VII","Mucopolysaccharidosis-like plus disease","mucopolysaccharidosis-plus syndrome","Mucormycosis","mucosa associated lymphoid tissue lymphoma translocation Gene 1 wt allele","Mucosa-associated lymphatic tissue lymphoma","Mucosa-associated lymphoid tissue lymphoma","Mucosal pemphigoid","Mucosulfatidosis","Mucosynechial pemphigoid","Mucoviscidosis","Mueller-Weiss osteonecrosis of the tarsal bone","MUHH","MUL","mulibrey dwarfism","Mulibrey growth disorder","Mullerian aplasia/dysgenesis","multicentric myofibromatosis","multicore disease","multicore myopathy","Multicystic mesothelioma","multicystic mesothelioma of peritoneum","multicystic mesothelioma of the peritoneum","Multicystic renal dysplasia","multifocal atrial tachycardia (disease)","Multifocal infantile haemangioma with extracutenous involvement","Multifocal lymphangioendotheliomatosis with thrombocytopenia","Multifocal motor neuropathy with conduction block","multifocal ventricular premature beats","Multilocular peritoneal inclusion cyst","Multiminicore disease","multinodular goiter, adolescent","multiple acyl Coenzyme A dehydrogenase deficiency","multiple basal cell carcinomas","multiple cafe-au-lait spots","multiple cafe-au-lait syndrome","Multiple cartilaginous exostoses","multiple congenital anomalies-hypotonia-seizures syndrome 1","multiple congenital anomalies-hypotonia-seizures syndrome 3","multiple congenital anomalies-hypotonia-seizures syndrome type 1","Multiple congenital anomalies-hypotonia-seizures syndrome type 3","Multiple contracture syndrome, Finnish type","Multiple cutaneous and uterine leiomyomas","Multiple Enchondromatosis type I","Multiple Enchondromatosis type II","Multiple Enchondromatosis, Maffucci Type","Multiple Enchondromatosis, Ollier type","multiple endocrine adenomatosis type 1","multiple endocrine adenomatosis type I","Multiple endocrine deficiency-Addison disease-candidiasis syndrome","multiple endocrine neoplasia 1","multiple endocrine neoplasia type 1 syndrome","multiple endocrine neoplasia type I","multiple endocrine neoplasia, type IV","Multiple epiphyseal dysplasia with Robin phenotype","Multiple epiphyseal dysplasia, Al-Gazali type","multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome","Multiple glomus tumors","multiple glomus tumours","multiple intestinal atresia","Multiple isolated café-au-lait spots","Multiple isolated café-au-lait syndrome","Multiple keratoacanthoma","Multiple mastocytoma","multiple mitochondrial dysfunctions syndrome 1","multiple mitochondrial dysfunctions syndrome 2","multiple mitochondrial dysfunctions syndrome 3","multiple mitochondrial dysfunctions syndrome 4","multiple mitochondrial dysfunctions syndrome 5","multiple myeloma, resistance to, Somatic mutation","multiple myeloma, susceptibility to, Somatic mutation","multiple myeloma/plasma cell myeloma","Multiple pituitary hormone deficiencies, genetic forms","multiple pterygium syndrome, autosomal recessive","multiple sulfatase deficiency disease","multiple symmetrical lipomatosis","Multisystem atrophy","Mulvihill-Smith syndrome","mUPD14 syndrome","murk Jansen type metaphyseal chondrodysplasia","Muscle enolase deficiency","muscle glycogenosis, X-linked recessive","Muscle phosphoglycerate mutase deficiency","muscle phosphorylase kinase deficiency","Muscle-eye-brain syndrome","Muscle-liver-brain-eye nanism","muscular dystrophy, congenital","muscular dystrophy, congenital merosin-deficient, type 1A","muscular dystrophy, congenital, Davignon-Chauveau type","muscular dystrophy, congenital, merosin deficient or partially deficient","muscular dystrophy, limb-girdle, autosomal dominant 1","muscular dystrophy, limb-girdle, autosomal recessive 1","muscular dystrophy, limb-girdle, autosomal recessive 12","muscular dystrophy, limb-girdle, autosomal recessive 17","muscular dystrophy, limb-girdle, autosomal recessive 18","muscular dystrophy, limb-girdle, autosomal recessive 2","muscular dystrophy, limb-girdle, autosomal recessive 3","muscular dystrophy, limb-girdle, autosomal recessive 4","muscular dystrophy, limb-girdle, autosomal recessive 5","muscular dystrophy, limb-girdle, autosomal recessive 6","muscular dystrophy, limb-girdle, autosomal recessive 8","muscular dystrophy, limb-girdle, type 2A","muscular dystrophy, limb-girdle, type 2C","muscular dystrophy, limb-girdle, type 2D","muscular dystrophy, limb-girdle, type 2E","muscular dystrophy, limb-girdle, type 2L","muscular dystrophy, limb-girdle, type 2Q","muscular dystrophy, limb-girdle, type 2S","muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 1","muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 5","muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15","muscular dystrophy-dystroglycanopathy (limb-girdle), type C5","Muscular enolase deficiency","Musculocontractural EDS","Mutchinick syndrome","Mutilating HSAN with spastic paraplegia","mutilating keratoderma","Mutilating keratoderma of Vohwinkel","Mutilating keratoderma plus deafness","Mutilating keratoderma plus hearing loss","Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques","MVAH","MVID","myasthenic syndrome of Lambert-Eaton","myasthenic syndrome, congenital","myasthenic-myopathic syndrome of Lambert-Eaton","Mycobacterium leprae caused disease or disorder","Mycobacterium leprae disease or disorder","Mycobacterium leprae infectious disease","mycosis fungoides","mycosis fungoides (morphologic abnormality)","mycosis fungoides NOS (morphologic abnormality)","mycosis fungoides of unspecified site","Mycosis fungoides, Alibert-Bazin type","mycosis fungoides, unspecified site, extranodal and solid organ sites","Myelinoclastic diffuse sclerosis","Myelinosis centralis diffusa","Myelocerebellar disorder","myelodysplastic syndrome with 5q deletion","myelodysplastic syndrome with Excess blasts","myelodysplastic syndrome with isolated del(5q)","myelodysplastic syndrome with Ring sideroblasts","Myelofibrosis with myeloid metaplasia","myelofibrosis with myeloid metaplasia, somatic","myelofibrosis, somatic","myeloid leukemia, chronic","myeloid neoplasm of plasma cell","myeloma","myeloma, multiple","myeloma, plasma cell, malignant","Myelomatosis","myelosclerosis with myeloid metaplasia","Myhre-LAPS syndrome","Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome","Myoadenylate deaminase deficiency","myocardial hamartoma","Myoclonic atonic epilepsy","Myoclonic dystonia","myoclonic epilepsy - ragged red fibres","myoclonic epilepsy of Lafora","myoclonic epilepsy, juvenile","myoclonic epilepsy, juvenile, 1","Myoclonic-astatic epilepsy in early childhood","myoclonus epilepsy and ragged red fibres","myoclonus epilepsy associated with ragged-red fibers","Myoclonus epilepsy associated with ragged-red fibres","myoclonus with epilepsy and with ragged Red fibers (MERRF syndrome)","myoclonus with epilepsy and with ragged Red fibres","myoclonus with epilepsy and with ragged Red fibres (MERRF syndrome)","Myoclonus-cerebellar ataxia-hearing loss syndrome","myofibrillar myopathy 1","myofibrillar myopathy 5","myofibrillar myopathy type 1","myofibrillar myopathy type 2","myofibrillar myopathy type 3","myofibrillar myopathy type 4","myofibrillar myopathy type 5","Myofibrillar myopathy with early respiratory failure","Myofibrillar myopathy-titinopathy","myofibromatosis","myokymia with episodic ataxia","myokymia with periodic ataxia","Myopathic EDS","myopathy distal, type 1","Myopathy due to calsequestrin and SERCA1 protein overload","Myopathy due to phosphoglycerate mutase deficiency","myopathy, centronuclear, 1","myopathy, centronuclear, 3","myopathy, centronuclear, autosomal dominant","myopathy, centronuclear, type 1","myopathy, centronuclear, type 3","myopathy, congenital, baily-bloch","myopathy, distal, 1","myopathy, distal, 5; MPD5","myopathy, distal, early-onset, autosomal dominant","myopathy, distal, type 4","myopathy, distal, type 5","myopathy, distal, with early respiratory failure, autosomal dominant","myopathy, lactic acidosis and sideroblastic anaemia","Myopathy, lactic acidosis and sideroblastic anemia","myopathy, lactic acidosis, and siderblastic anaemia","myopathy, lactic acidosis, and siderblastic anemia","myopathy, late distal hereditary","myopathy, myofibrillar, type 1","myopathy, myofibrillar, type 2","myopathy, myofibrillar, type 3","myopathy, myofibrillar, type 4","myopathy, myofibrillar, type 5","myopathy, proximal, with early respiratory muscle involvement","myopathy, tubular aggregate, type 1","Myopathy-Moebius-Robin syndrome","Myophosphorylase deficiency","myoseptum inflammation","myoseptumitis","Myositis ossificans progressiva","Myositis purulenta tropica","Myositis tropicans","myotilinopathy","Myotonia congenita","Myotonia-intellectual disability-skeletal anomalies syndrome","Myotonia-painful contractions syndrome","Myotonic chondrodystrophy","Myotonic dystrophy type 1","Myotonic dystrophy type 2","Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies","myotubular myopathy, autosomal dominant","myotubular myopathy, X-linked, X-linked recessive","Myxoma peritonei","Myxoma with fibrous dysplasia","Myxoma-spotty pigmentation-endocrine overactivity syndrome","myxomatous valvular dystrophy, X-linked","myxopapillary ependymoma (morphologic abnormality)","Mégarbané-Loiselet syndrome","Möbius syndrome","Müllerian duct failure and hyperandrogenism","N-acetylgalactosamine 4-sulfatase deficiency","N-acetylglucosamine 1-phosphotransferase deficiency","N-acetylglucosaminyltransferase 2 deficiency","N-acyl-aliphatic-L-amino acid amidohydrolase deficiency","N-acyl-L-amino acid amidohydrolase deficiency","N-LAURYLSPHINGOSINE deacylase deficiency","N-methyl-D-aspartate receptor encephalitis","N-terminal acetyltransferase deficiency","Nablus mask-like facial syndrome","NADH coenzyme Q reductase deficiency","NADMR","Naegeli syndrome","Naevus syringocystadenomatosus papilliferus","NAFD","Nager acrofacial dysostosis","Nager acrofacial dysostosis syndrome","Naguib-Richieri-Costa syndrome","nail disorder, nonsyndromic congenital, type 10","NAIT","Naito-Oyanagi disease","Najjar syndrome","Nakagawa angioblastoma","Nakamura-Osame syndrome","NALD","NAM","NAMSD","nance-horan syndrome, X-linked dominant","nanocephalic Dwarfism","nanukayami fever","narcolepsy with cataplexy","Narcolepsy without cataplexy","Narcolepsy-cataplexy","narcolepsy-cataplexy syndrome","Nasodigitoacoustic syndrome","nasodigitoacoustic syndrome, formerly","Nasolacrimal mucocele","nasopharyngeal angiofibroma","nasopharyngeal juvenile angiofibroma","Naxos syndrome","NBCCS","NBIA1","NBIA2A","NBIA3","NBIA4","NBIA5","NBIA6","NBO","NBS","NCL12","NCM","NCRNA disease","Near total absence of cerebellum","Nebulin-related early-onset distal myopathy","NEC","Necrotizing autoimmune myositis","necrotizing respiratory granulomatosis","NEDABA","NEDBEH","NEDHAFA","NEM5","nemaline myopathy 5","nemaline myopathy type 5","NEN of appendix","neonatal acute respiratory distress due to SP-B deficiency","Neonatal acute respiratory distress due to surfactant protein B deficiency","neonatal aspiration of meconium","neonatal cardiac dysrhythmia","Neonatal congenital pancreatic cyst","neonatal death immune deficiency","Neonatal glomerulopathy due to neprilysin alloimmunization","Neonatal intrahepatic cholestasis caused by citrin deficiency","Neonatal Lupus","Neonatal membranous glomerulopathy with maternal NEP deficiency","Neonatal MFS","Neonatal multiple carboxylase deficiency","Neonatal osseous dysplasia type 1","Neonatal progeroid syndrome","Neonatal Schwartz-Jampel syndrome","Neonatal-onset multisystem inflammatory disease","neoplasm of Rathke's pouch","nephroblastoma, malignant","nephroblastomatosis - foetal ascites - macrosomia - Wilms tumour","nephroblastomatosis, foetal ascites, macrosomia and Wilms tumour","Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome","nephroblastomatosis-fetal ascites-macrosomia-Wilms tumour syndrome","Nephrogenic diabetes insipidus","nephronophthisis (disease)","Nephronophthisis with retinal dystrophy","Nephronophthisis-hepatic fibrosis syndrome","Nephropathy-hearing loss-hyperparathyroidism syndrome","nephrosialidosis","Nephrosis-hearing loss-urinary tract-digital malformations syndrome","nephrosis-microcephaly syndrome","Nephrosis-neuronal dysmigration syndrome","nephrotic syndrome type 4","NEPPK","NEPPK, Bothnia type","NEPPK, Bothnian type","NET of anal canal","NET of stomach","NET of the anal canal","NET of the colon","NET of the rectum","Nettleship-Falls syndrome","Neuhauser-Daly-Magnelli syndrome","Neuhäuser syndrome","neural Crest tumor, benign","neural Crest tumor, malignant","neuralgia of glossopharyngeal nerve","neuralgia of pudendal nerve","neuralgia of trigeminal nerve","Neuralgic shoulder amyotrophy","Neuraminidase deficiency with beta-galactosidase deficiency","Neurilemmoma","Neurilemmomatosis","Neurilemoma","neurinoma","Neurinomatosis","neuroblastoma (Schwannian Stroma-poor)","neuroblastoma, malignant","Neurocutaneous melanosis","neurocutaneous melanosis, somatic","neurodegeneration with brain iron accumulation 1","neurodegeneration with brain iron accumulation 2A","neurodegeneration with brain iron accumulation 4","neurodegeneration with brain iron accumulation 5","neurodegeneration with brain iron accumulation 5, X-linked dominant","neurodegeneration with brain iron accumulation 6","Neurodegeneration with brain iron accumulation type 1","neurodegeneration with brain iron accumulation type 2A","neurodegeneration with brain iron accumulation type 3","Neurodegeneration with brain iron accumulation type 4","Neurodegeneration with brain iron accumulation type 5","neurodegeneration with brain iron accumulation type 6","neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities","neurodevelopmental disorder with microcephaly and gray sclerae","neurodevelopmental disorder with microcephaly and grey sclerae","neurodevelopmental disorder with microcephaly and spastic paraplegia","neurodevelopmental disorder with spastic diplegia and visual defects","Neuroectodermal dysplasia, CHIME type","Neuroectodermal syndrome, Zunich type","neuroendocrine carcinoma of liver","neuroendocrine carcinoma of skin","neuroendocrine carcinoma of the skin","neuroendocrine neoplasm of bronchus","neuroendocrine neoplasm of colon","neuroendocrine neoplasm of larynx","neuroendocrine neoplasm of middle ear","neuroendocrine neoplasm of rectum","neuroendocrine neoplasm of stomach","neuroendocrine neoplasm of the anal canal","Neuroendocrine neoplasm of the colon","neuroendocrine neoplasm of the larynx","neuroendocrine neoplasm of the rectum","neuroendocrine neoplasm of the stomach","neuroendocrine neoplasm of thymus","neuroendocrine skin carcinoma","neuroendocrine tumor of middle ear","neuroendocrine tumour of middle ear","neuroendocrine tumour of the stomach","neurofibroma (WHO grade I)","neurofibroma, benign","Neurofibromatosis 1","neurofibromatosis 1 microdeletion syndrome","Neurofibromatosis 1-like syndrome","neurofibromatosis 2","neurofibromatosis type 1 microdeletion syndrome","Neurofibromatosis type 1-Noonan syndrome","neurofibromatosis type 2","neurofibromatosis type 3","neurofibromatosis type 6","neurofibromatosis type i","Neurogenic acroosteolysis","Neurogenic diabetes insipidus","Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome","Neurolipomatosis","Neurologic Waardenburg-Shah syndrome","neurological conditions associated with aminoacylase 1 deficiency","neuromyotonia","Neuronal ceroid lipofuscinosis type 12","neuronal ceroid lipofuscinosis type 14","neuroocular syndrome 2, paroxysmal type","neuropathy, hereditary sensory and autonomic, type 1B","neuropathy, hereditary sensory and autonomic, type 3","neuropathy, hereditary sensory and autonomic, type III","neuropathy, hereditary sensory and autonomic, type IX, with developmental delay","neuropathy, hereditary sensory, type IB","neuropathy, recurrent, with pressure palsies","Neuropathy-ataxia-retinitis pigmentosa syndrome","Neurosensory deafness with dilated cardiomyopathy","Neurosensory hearing loss with dilated cardiomyopathy","Neurotrophic keratitis","Neutral lipid storage disease type M","Neutral lipid storage disease with myopathy without ichthyosis","neutropenia, cyclic","neutropenia, nonimmune chronic idiopathic, of adults","neutropenia, severe congenital, X-linked, X-linked recessive","Neutropenia-monocytopenia-hearing loss syndrome","neutrophil immunodeficiency syndrome","Neutrophilic urticaria","nevi of Ito","nevi, atrial myxoma, skin myxoma, ephelides syndrome","nevoid basal cell cancer syndrome","Nevoid basal cell carcinoma syndrome","Nevus comedonicus","nevus comedonicus, somatic","Nevus flammeus","Nevus fuscocaeruleus acromiodeltoideus","Nevus sebaceous of Jadassohn","Nevus sebaceus of Jadassohn","Nevus sebaceus syndrome","Nezelof syndrome","NF1 microdeletion syndrome","NF1-like syndrome","NF3","NF6","NFJ syndrome","NFNS","NFPA","NHD","NI-CINA","NI-PHH","NICCD","NICH","Niemann-Pick disease type A","Niemann-Pick disease type A/B","Niemann-Pick disease type B","Nievergelt syndrome","Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia","Niikawa-Kuroki syndrome","Nine Mile fever","Nipah encephalitis","Nipah fever","Nipah virus infectious disease","NIPHS","NISCH syndrome","Nivelon-Nivelon-Mabille syndrome","NKA","NKX2-5 atrial heart septal defect","NLPHL","NLSDI","NLSDM","NMC","NMDARE","NMOSD","NMS","Nocardia caused disease or disorder","Nocardia disease or disorder","nodular heterotopia","nodular nonsuppurative panniculitis","NOMID","NOMID syndrome","non-24","Non-24-Hour Sleep-Wake Disorder","non-acquired combined pituitary hormone deficiency with spine abnormalities","non-bacterial osteomyelitis","Non-bullous congenital ichthyosiform erythroderma","non-diarrhea-associated hemolytic uremic syndrome","non-distal deletion 10q","non-distal duplication 10q","non-distal duplication 13q","Non-distal monosomy 10q","non-distal monosomy type 10q","Non-distal tetrasomy 15q","Non-distal trisomy 10q","Non-distal trisomy 13q","non-distal trisomy type 10q","non-distal trisomy type 13q","non-epidermolytic palmoplantar keratoderma","Non-fluent variant PPA","non-functioning adenoma of pituitary","non-functioning adenoma of pituitary gland","non-functioning adenoma of the pituitary","non-functioning adenoma of the pituitary gland","non-functioning pituitary gland adenoma","Non-giant cell granulomatous temporal arteritis with eosinophilia","Non-involuting congenital haemangioma","Non-ketotic hyperglycinemia","Non-Leber type optic atrophy with early-onset","Non-neurogenic neurogenic bladder","non-phenylketonuric hyperphenylalaninemia","Non-pneumonic Legionnaires' disease","Non-progressive cerebellar ataxia-intellectual disability syndrome","Non-secreting paraganglioma","non-secretory adenoma of pituitary","non-secretory adenoma of pituitary gland","non-secretory adenoma of the pituitary","non-secretory adenoma of the pituitary gland","non-secretory pituitary adenoma","non-secretory pituitary gland adenoma","Non-specific autoimmune CA with characteristic antibodies","Non-specific EOEE","Non-specific myositis","Non-specific supratentorial AE with characteristic antibodies","Non-syndromic anterior synostotic plagiocephaly","Non-syndromic bilateral coronal suture synostosis","Non-syndromic biliary atresia","Non-syndromic congenital retinal non-attachment","Non-syndromic dentinogenesis imperfecta","Non-syndromic DGI","Non-syndromic frontoparietal craniosynostosis","Non-syndromic hemicoronal craniosynostosis","Non-syndromic heritable thoracic aortic disease","Non-syndromic hypogammaglobulinemia","Non-syndromic metopic suture synostosis","Non-syndromic sagittal and bilateral lambdoid synostosis","Non-syndromic sagittal suture synostosis","Non-syndromic unilateral coronal synostosis","Non-telomeric monosomy 10q","Non-telomeric tetrasomy 15q","Non-telomeric trisomy 10q","Non-telomeric trisomy 13q","Non-transfusion dependent beta-thalassemia","Non-tuberculous mycobacterial lung disease","Non-Wilsonian hepatic copper toxicosis of infancy and childhood","Nonaka myopathy","nonbullous congenital ichthyosiform erythroderma","nonepidermolytic palmoplantar keratoderma","nonfunctional pituitary gland adenoma","nongoitrous hyperthyrotropinemia","nonimmune chronic idiopathic neutropenia of adults","noninvoluting congenital hemangioma","Nonketotic Hyperglycinemia","Nonmosaic Legius syndrome","Nonmosaic LGSS","Nonmosaic neurofibromatosis type 1","Nonmosaic neurofibromatosis type 2","Nonmosaic schwannomatosis","Nonne-Milroy disease","Nonne-Milroy lymphedema","Nonne-Milroy syndrome","Nonne’s syndrome","nonprogressive cerebellar ataxia with intellectual disability","nonsyndromic agammaglobulinemia","nonsyndromic aniridia","nonsyndromic cleft lip (disease)","nonsyndromic congenital alacrima","nonsyndromic congenital nail disorder 10","nonsyndromic congenital nail disorder type 1","nonsyndromic congenital nail disorder type 10","nonsyndromic congenital nail disorder type 7","nonsyndromic familial thoracic aortic aneurysm and dissection","nonsyndromic genetic hearing loss","nonsyndromic glycerol kinase deficiency","nonsyndromic heritable thoracic aortic disease","nonsyndromic HTAD","nonsyndromic inborn glycerol kinase deficiency","nonsyndromic lens position anomaly","nonsyndromic osteopoikilosis (disease)","nonsyndromic trigonocephaly","Nontuberculous Mycobacterial Lung Disease","noradrenaline deficiency","norepinephrine deficiency","Normocalcemic pseudohypoparathyroidism (disorder) [ambiguous]","normokalemic periodic paralysis, potassium-sensitive","Normomorphic sialidosis","normosomatic sialidosis","Norrie disease, X-linked recessive","Norrie-Warburg disease","NORSE","Nose agenesis","Nova syndrome","NPD-A","NPD-A/B","NPD-B","NPHS24","NPS 1","NPS1","NS","ns-FTAAD","NS/LAH","NSHPT","nsHTAD","NSX","NTE-related motor neuron disorder","NTEMND","nuclear protein in testis midline carcinoma","Nude/SCID","Nude/severe combined immunodeficiency","NUT carcinoma","NXD","O'Doherty syndrome","O'Donnell-Pappas syndrome","OA1","OAFNS","OAS","OAV dysplasia","OAV spectrum","OAVS","Oberklaid-Danks syndrome","Obrinsky syndrome","Obrisnksy syndrome","Obstructed hemivagina and ipsilateral renal anomaly","OCA1","OCA3","OCA4","OCA5","OCA6","Occipital atretic cephalocele-unusual facies-large feet syndrome","occipital horn syndrome, X-linked recessive","Occlusive infantile arteriopathy","OCCS","Occult ectopic ACTH secretion","Occult neuropathic bladder","Ochoa facial syndrome","Ochoa syndrome","OCR","OCT deficiency","Ocular albinism type 1","Ocular albinism with late-onset sensorineural hearing loss","Ocular albinism, Nettleship-Falls type","ocular albinism, type I, Nettleship-Falls type","Oculo-auriculo-vertebral spectrum","oculo-cerebro-renal dystrophy","oculo-cerebro-renal syndrome","Oculo-dento-digital dysplasia","Oculo-digito-esophageal-duodenal syndrome","Oculo-oto-radial syndrome","Oculo-palato-cerebral dwarfism","Oculo-skeleto-dental syndrome","oculoauriculovertebral dysplasia","Oculoauriculovertebral spectrum","oculoauriculovertebral syndrome","oculocerebral hypopigmentation syndrome of Preus","Oculocerebral Syndrome with Hypopigmentation","oculocerebrorenal dystrophy","oculocerebrorenal syndrome","oculocutaneous albinism, tyrosinase-positive","Oculocutaneous tyrosinemia","Oculodentodigital syndrome","Oculodentodigitalis dysplasia","Oculodentoosseous dysplasia","oculoectodermal syndrome, somatic","Oculomandibulofacial syndrome","Oculomelic amyoplasia","Oculomotor apraxia, Cogan type","oculomotor apraxia, congenital, Cogan-type","oculootofacial dysplasia","Oculopharyngeal distal myopathy","Oculorenocerebellar syndrome","OD","ODCD","odd syndrome","ODDD syndrome","ODED syndrome","ODOD syndrome","ODP","OEIS complex","OEIS syndrome","oesophageal adenocarcinoma","Oesophageal atresia","oesophagus adenocarcinoma","oesophagus scc","OFC syndrome","OFCD syndrome","OFD syndrome 1","OFD14","OFD2","OFD4","OFD5","OFDI","OFDS 1","OFDSI","OGD","Ogden syndrome, X-linked recessive, X-linked dominant","OGDNS","Oguchi syndrome","Ohaha syndrome","Ohdo syndrome","Ohdo syndrome, SBBYS variant","Ohdo syndrome, X-linked, X-linked recessive","Ohdo-Madokoro-Sonoda syndrome","OHSS","Ohtahara syndrome","OHVIRA syndrome","OI","Okamoto syndrome","Okihiro syndrome","Oligoarticular JIA","Oligocone syndrome","Oligomeganephronic renal hypoplasia","Oligophrenin-1 syndrome","Oliver-McFarlane syndrome","olivopontocerebellar atrophy 5","olivopontocerebellar atrophy type 5","Olivopontocerebellar atrophy-hearing loss syndrome","Ollier type enchondromatosis","Olmsted syndrome","OMA syndrome","OMM syndrome","omphalocele (disease)","OMS","Onat syndrome","Oncocytic cardiomyopathy","Oncogenic hypophosphatemic osteomalacia","Ondine curse","Ondine curse, congenital","Ondine syndrome","Ondine-Hirschsprung disease","Ondine-Hirschsprung syndrome","onychodystrophy totalis","Onychoosteodysplasia","OOCHS","Opalescent teeth without OI","Opalescent teeth without osteogenesis imperfecta","OPCA V","OPCA with dementia and extrapyramidal signs","OPCA2","OPD 1 syndrome","OPD 2 syndrome","OPD I syndrome","OPD II syndrome","OPD syndrome 1","OPD syndrome 2","OPD1","OPDM","Ophthalmoacromelic syndrome","ophthalmoplegia, ataxia and areflexia syndrome","Ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome","Opitz BBB/G syndrome","Opitz BBBG syndrome","Opitz C trigonocephaly","Opitz G syndrome","Opitz G/BBB syndrome","Opitz syndrome","Opitz trigonocephaly C syndrome","Opitz trigonocephaly syndrome","Opitz trigonocephaly-like syndrome","Opitz-Caltabiano syndrome","Opitz-Frias syndrome","Opitz-Kaveggia syndrome","Opitz-Kaveggia syndrome, X-linked recessive","OPMD","Oppenheim dystonia","Oppenheim-Urbach disease","OPPG","Opsoclonus-myoclonus-ataxia syndrome","OPTA2","OPTB","OPTB3","OPTB6","optic atrophy 2","optic atrophy 2, X-linked","optic atrophy 3","Optic atrophy type 1","Optic atrophy type 2","optic atrophy type 8","optic atrophy, polyneuropathy, and deafness","optic atrophy, sensorineural hearing loss and polyneuropathy","Optic atrophy-deafness-polyneuropathy-myopathy syndrome","Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome","optic atrophy-peripheral neuropathy-developmental delay syndrome","optic tract glioma","oral cavity submucous fibrosis","Oral dysesthesia","oral facial digital syndrome 1","oral submucosal fibrosis, including of tongue","Oral-facial-digital syndrome type 1","Oral-facial-digital syndrome type 14","Oral-facial-digital syndrome type 2","Oral-facial-digital syndrome type 4","Oral-facial-digital syndrome type 5","Orbital cyst with cerebral and focal dermal malformations","ORC syndrome","organising pneumonia","Organizing Pneumonia","organoid Nevus","Organoid nevus syndrome","Ornithine aminotransferase deficiency","Ornithine carbamoyltransferase deficiency","ornithine carbamoyltransferase deficiency disease","Ornithine carrier deficiency","Ornithine decarboxylase deficiency","Ornithine translocase deficiency","ORNT1 deficiency","Orocraniodigital syndrome","Orodynia","orofaciodigital syndrome 1","orofaciodigital syndrome I","orofaciodigital syndrome i, X-linked dominant","orofaciodigital syndrome IV","orofaciodigital syndrome type I","orofaciodigital syndrome type IV","orofaciodigital syndrome type V","orofaciodigital syndrome V","Orofaciodigital syndrome, Thurston type","oromandibular-limb hypogenesis spectrum","orotic aciduria","oroticaciduria","Orotidylic decarboxylase deficiency","Osler-Vaquez disease","Osler-Weber-Rendu disease","OSMED","OSMED, Heterozygous","OSMEDA","OSMF","Osseous-oculo-dental dysplasia","Osteitis condensans of the clavicle","osteo-onychodysplasia","osteochondritis dissecans (disease)","osteochondritis of phalangeal epiphyses","osteochondritis of tarsal/metatarsal bone","osteochondritis of the capital femoral epiphysis","osteochondritis of the lunate bone","osteochondritis of the tibial tubercle","osteochondromatosis","osteochondromatosis syndrome","osteochondromatosis syndrome (disorder) [ambiguous]","Osteochondromuscular dystrophy","Osteochondrosis deformans tibiae","Osteochondrosis of patella","Osteochondrosis of phalangeal epiphyses","Osteochondrosis of the capital femoral epiphysis","Osteochondrosis of the capital humerus","Osteochondrosis of the lunate bone","Osteochondrosis of the tibial tubercle","Osteogenesis imperfecta-congenital joint contractures syndrome","Osteogenic sarcoma","Osteoglophonic dwarfism","osteoglophonic dysplasia","osteomalacia, sclerosing, with cerebral calcification","Osteomesopycnosis","Osteomyelofibrosis","osteopathia striata with cranial sclerosis","Osteopathia striata with cranial sclerosis, X-linked dominant","osteopetrosis (disease), autosomal recessive","Osteopetrosis autosomal dominant type 2","osteopetrosis, autosomal recessive 3, with renal tubular acidosis","osteopetrosis, autosomal recessive type 3","osteopetrosis, autosomal recessive type 6","Osteopoikilosis-short stature-intellectual disability syndrome","Osteopsathyrosis","osteosarcoma of bone","osteosarcoma, somatic","osteosarcoma, somatic mutation","Osteosarcoma-limb anomalies-erythroid macrocytosis syndrome","osteosclerotic bone dysplasia, lethal","Osteosclerotic myeloma","Ostertag type amyloidosis","Ostravik-Lindemann-Solberg syndrome","Ostéosclérose autosomique dominante type Worth","OTCD","OTCS","oto-palato-digital syndrome type 1","otocephaly","Otodental dysplasia","otodental dysplasia chromosome deletion syndrome","otomandibular syndrome","Otopalatodigital Syndrome Type I and II","otopalatodigital syndrome, type I","otopalatodigital syndrome, type I, X-linked dominant","otopalatodigital syndrome, type II, X-linked dominant","otospondylmegaepiphyseal dysplasia","otospondylomegaepiphyseal dysplasia","otospondylomegaepiphyseal dysplasia, autosomal dominant","Oudtshoorn disease","Ouvrier-Billson syndrome","ovalocytosis","ovalocytosis, SA type","ovarian fibroma (disease)","ovarian gonadoblastoma","ovarian gonadoblastoma (disease)","ovary gonadoblastoma","Overlap syndromes of autoimmune liver diseases","ovotesticular differences of sex development","ovotesticular disorders of sex development","ovotesticular DSD","Owren disease","oxoglutarate dehydrogenase deficiency","Oxoprolinuria due to oxoprolinase deficiency","Oxysterol 7-alpha-hydroxylase deficiency","p450scc deficiency","P5PD-DEE","PAC syndrome","PACHD","pachydermoperiostosis of nail [ambiguous]","Pacman dysplasia","PACNS","paediatric alternating hemiplegia","paediatric autoimmune disorders associated with Streptococcus infections","Paediatric carcinoma of the liver cell","paediatric glaucoma (disease)","paediatric granulomatous arthritis","paediatric HCC","Paediatric osteoporosis","PAF","Pagetoid amyotrophic lateral sclerosis","Pagetoid neuroskeletal syndrome","Pagon-Bird-Detter syndrome","Painful bladder syndrome","Painful bruising syndrome","Painful congenital myotonia","Painful myotonia","PAIS","Palagonia type of acrofacial dysostosis","Palatodigital syndrome, Catel-Manzke type","Pallidopyramidal syndrome","Pallister Killian Mosaic Syndrome","Pallister ulnar-mammary syndrome","Pallister-Killian syndrome, Somatic mosaicism","Pallister-W syndrome","Palmar, plantar and disseminated porokeratosis","Palmer-Pagon syndrome","Palmoplantar and periorificial keratoderma","Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy","Palmoplantar hyperkeratosis, Nagashima type","Palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome","Palmoplantar hyperkeratosis-deafness syndrome","Palmoplantar hyperkeratosis-esophageal carcinoma syndrome","Palmoplantar hyperkeratosis-hearing loss syndrome","Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome","Palmoplantar hyperkeratosis-sclerodactyly syndrome","Palmoplantar hyperkeratosis-spastic paralysis syndrome","palmoplantar keratoderma and congenital alopecia type 1","palmoplantar keratoderma and congenital alopecia type 2","Palmoplantar keratoderma and congenital alopecia, Stevanovic type","Palmoplantar keratoderma and congenital alopecia, Wallis type","palmoplantar keratoderma and sensorineural deafness","Palmoplantar keratoderma with arrythmogenic cardiomyopathy","palmoplantar keratoderma with congenital alopecia","palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair","palmoplantar keratoderma with left ventricular cardiomyopathy and wooly hair","palmoplantar keratoderma, Bothnian type","palmoplantar keratoderma, mutilating, with periorificial keratotic plaques","palmoplantar keratoderma, nonepidermolytic","Palmoplantar keratoderma-clinodactyly syndrome","Palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome","Palmoplantar keratoderma-hearing loss syndrome","Palmoplantar keratoderma-periodontopathia-onychogryposis syndrome","Palmoplantar keratoderma-sclerodactyly syndrome","PAN","panarteritis nodosa","Pancreatic agenesis and congenital heart defects syndrome","Pancreatic and cerebellar agenesis","pancreatic Beta cell tumor","pancreatic Beta cell tumour","pancreatic cancer, somatic","pancreatic carcinoma, somatic","Pancreatic cholera","pancreatic glucagonoma","Pancreatic insufficiency and bone marrow dysfunction","pancreatic insufficiency, combined exocrine","pancreatic insulin producing neoplasm","pancreatic insulin producing NET","pancreatic insulin producing tumor","pancreatic insulin producing tumour","pancreatic insulin-producing neuroendocrine tumor","pancreatic polypeptide neoplasm","pancreatic polypeptide tumor","pancreatic polypeptide tumour","Pancreatic polypeptidoma","Pancreatic triglyceride lipase deficiency","pancreatoblastoma (morphologic abnormality)","pancytopenia, congenital","Panmyelopathy, Fanconi","PAPA","papillary Syringadenoma","papillary syringadenoma (morphologic abnormality)","papillary Syringadenoma (syringocystadenoma papilliferum)","Papillary syringocystadenoma","Papillo-renal syndrome","papilloma of the choroid plexus","Papillon-Leage and Psaume syndrome","Papillon-league-Psaume syndrome (formerly)","Papillon-Léage-Psaume syndrome","papillorenal syndrome","PAPPA syndrome","PAPPAS","parafollicular cell carcinoma","Paraganglioma and gastric stromal sarcoma","Parahemophilia","paramyloidosis","Paramyotonia congenita","Paraneoplastic cerebellar ataxia","Paraneoplastic Cushing syndrome","Paraneoplastic opsoclonus-myoclonus","Paraneoplastic opsoclonus-myoclonus-ataxia syndrome","Paraneoplastic retinopathy","Paraneoplastic sensory neuronopathy","Paraparetic variant of GBS","parathyroid adenocarcinoma","parathyroid adenoma with cystic changes","parathyroid gland adenocarcinoma","parathyroid gland carcinoma","PARDS","parietal foramina","PARK","PARK14","PARK9","Parkinson disease 15, autosomal recessive","Parkinson disease, age of onset, modifier, Multifactorial","Parkinson disease, late-onset","Parkinson disease, late-onset, susceptibility to, Multifactorial","Parkinson disease, susceptibility to, Multifactorial","Parkinsonism with alveolar hypoventilation and mental depression","Parkinsonism with spasticity, X-linked, X-linked recessive","PARKINSONISM-dystonia, infantile","parkinsonism-dystonia, infantile, 2","paroxysmal ataxia with neuromyotonia, hereditary","paroxysmal exercise-induced dystonia","paroxysmal hemoglobinuria","Paroxysmal kinesigenic choreathetosis","Paroxystic non-kinesigenic choreoathetosis","Parry-Romberg syndrome","Parsonage Turner Syndrome","Partial 21q monosomy","partial acquired lipodystrophy","Partial albinism-immunodeficiency syndrome","Partial androgen resistance syndrome","Partial atrioventricular canal defect","Partial AVSD","partial deletion of chromosome 18p","partial deletion of chromosome 18q","partial deletion of chromosome 9p","partial deletion of the long arm of chromosome 18","partial deletion of the long arm of chromosome type 18","partial deletion of the short arm of chromosome 18","partial deletion of the short arm of chromosome 9","partial deletion of the short arm of chromosome type 18","partial deletion of the short arm of chromosome type 9","Partial duplication of chromosome 20p","partial duplication of chromosome 9p","Partial duplication of the short arm of chromosome 20","partial duplication of the short arm of chromosome 9","Partial epilepsy with auditory aura","Partial epilepsy with auditory features","Partial facial palsy with urinary abnormalities","Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome","partial monosomy 9p","partial monosomy of chromosome 18p","partial monosomy of chromosome 18q","partial monosomy of chromosome 9p","partial monosomy of the long arm of chromosome 18","partial monosomy of the short arm of chromosome 18","partial monosomy of the short arm of chromosome 9","partial trisomy 9p","Partial trisomy of chromosome 20p","partial trisomy of chromosome 9p","Partial trisomy of the short arm of chromosome 20","partial trisomy of the short arm of chromosome 9","partial trisomy of the short arm of chromosome type 9","Partington syndrome, X-linked recessive","Partington-Mulley syndrome","Parvovirus antenatal infection","Pascual-Castroviejo syndrome type 1","Pascual-Castroviejo syndrome type 2","Pashayan syndrome","Pashayan-Prozansky syndrome","Pashayan-Pruzansky syndrome","PASLI-CD","PASLI-R1","Passwell-Goodman-Siprkowski syndrome","Patau syndrome","Patent arterial duct-bicuspid aortic valve-hand anomalies syndrome","Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits","patent urachus (disease)","paternal 20q13.2-q13.3 microdeletion syndrome","Paternal del(20)(q13.2q13.3)","paternal monosomy 20q13.2-q13.3","Paternal monosomy 20q13.2q13.3","paternal uniparental disomy of chromosome type 1","paternal uniparental disomy of chromosome type 5","paternal uniparental disomy of chromosome type 6","paternal uniparental disomy of chromosome type X","Patterson pseudoleprechaunism syndrome","Patterson syndrome","Patterson-Stevenson syndrome","PATX","pauci-immune glomerulonephritis associated with granulomatosis with polyangiitis","Pauciarticular chronic arthritis","Pauciarticular JIA","Pauciarticular juvenile idiopathic arthritis","PAVC","PAVF","PAVM","PBC","PBC/PSC and AIH overlap syndrome","PBCRA","PC","PCA","PCARP","PCD","PCH","PCLD","PCNSV","PCP","PCT","PCWH","PD","PD-DEE","PDAC syndrome","PDDRI","PDH","PDHC","PDP","Pearson marrow-pancreas syndrome","PEBAS","PEBAT","PED","pediatric alternating hemiplegia","Pediatric ARDS","Pediatric autoimmune disorders associated with Streptococcus infections","Pediatric carcinoma of the liver cell","pediatric glaucoma (disease)","pediatric granulomatous arthritis","Pediatric HCC","Pediatric osteoporosis","Pediatric-onset Basedow disease","pEDS","Peeling skin syndrome 2","peeling skin syndrome type 2","PEL","Pelizaeus-Merzbacher brain sclerosis","Pelizaeus-Merzbacher disease, X-linked recessive","Pelizaeus-Merzbacher spectrum disorder","pelvirectal achalasia","PELVIS syndrome","pemphigus, benign familial","Pena-Shokeir syndrome type 1","Penis agenesis","penoscrotal transposition (disease)","Penta X Syndrome","Penta-X","Pentasomy type X","PEO-myopathy-emaciation syndrome","PEOB4","PEP syndrome","PEPCK deficiency","Perheentupa syndrome","Periarteritis nodosa","pericardial constriction and growth failure","pericardial constriction-growth failure syndrome","Pericarditis-arthropathy-camptodactyly syndrome","Perinatal lethal bent bone dysplasia","Perineal, scrotal or penoscrotal hypospadias","Periodic disease","periodic fever, aphthous stomatitis, pharyngitis and adenitis","periodic fever, aphthous stomatitis, pharyngitis, adenitis syndrome","Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome","periodic neutropenia","Periodic vestibulocerebellar ataxia","Periodontal EDS","Peripheral fibroblastoma","peripheral nerve hyperexcitability","peripheral neuroectodermal neoplasm","peripheral neuroectodermal tumor","peripheral neuroectodermal tumour","Peripheral neuroepithelioma","peripheral neurofibromatosis","peripheral neuropathy associated with agenesis of the corpus callosum","Peripheral neuropathy-myopathy-hoarseness-deafness syndrome","Peripheral PNET","peripheral primitive neuroectodermal neoplasm","peritoneal cavity pseudomyxoma peritonei","Peritoneal cyctic mesothelioma","peritoneal cystic mesothelioma","peritoneal mesothelioma (disease), malignant","peritoneal multicystic mesothelioma","peritoneum malignant mesothelioma (disease)","Perniola-Krajewska-Carnevale syndrome","Peroxisomal fatty acyl-CoA reductase 1 disorder","PERRS","Persistent fetal vasculature syndrome","persistent foetal vasculature syndrome","persistent mullerian duct syndrome, type I","persistent mullerian duct syndrome, type II","Persistent Müllerian derivatives","Persistent truncus arteriosus","persistent truncus arteriosus (disease)","Perthe's disease","Perthes disease","PERYTHM","Peters anomaly (disease)","Peters anomaly with short limb dwarfism","Peters congenital glaucoma","Petit-Fryns syndrome","Pettigrew Syndrome","Pettigrew syndrome, X-linked recessive","Peutz's syndrome","PFAPA","PFBC","PFCE","PFCP","PFCRD","Pfeiffer-Kapferer syndrome","Pfeiffer-Mayer syndrome","Pfeiffer-Singer-Zschiesche syndrome","Pfeiffer-Weber-Christian syndrome","PFFD","PFIC","PFVS","PGAM deficiency","PGAM-M  deficiency","PHA","PHA2","PHACES syndrome","Phacoallergic endophthalmitis","Phacoantigenic endophthalmitis","PHAII","Phako-anaphylactic endophthalmitis","pharyngeal arch artery syndromic disease","PHD syndrome","Phenotypic diarrhea","phenotypic diarrhoea","phenylalanine hydroxylase deficiency","Phenylketonuric embryopathy","Phenytoin embryofetopathy","PHMDS","PHNEC","PHO","phocomelia","phocomelia-pseudothalidomide syndrome","Phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome","phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency","phosphoenolpyruvate carboxykinase (GTP) deficiency","Phosphoethanolaminuria","phosphofructokinase deficiency","phosphoglucomutase 3 deficiency","phosphoglucomutase deficiency type 3","phosphoglycerate kinase 1 deficiency, X-linked recessive","Phosphoglycerate Kinase Deficiency","phospholipase A2-associated neurodegeneration","Phosphomannomutase 2 deficiency","Phosphomannose isomerase deficiency","phosphoribosylpyrophosphate synthetase superactivity, X-linked recessive","photosensitivity with defective DNA synthesis","PHP1A","PHPV","PHS","phytanic acid oxidase deficiency","Phytanic-CoA hydroxylase deficiency","Phytosterolemia","Piccardi-Lassueur-Little syndrome","piebald trait","Pierquin syndrome","Pierre Robin Sequence","Pierre Robin sequence-congenital heart defect-talipes syndrome","Pierre Robin sequence-fetal chondrodysplasia syndrome","Pierre Robin sequence-hyperphalangy-clinodactyly syndrome","Pierre Robin sequence-oligodactyly syndrome","Pierre Robin syndrome with fetal chondrodysplasia","Pierre Robin syndrome with foetal chondrodysplasia","Pierre Robin syndrome-congenital heart defect-talipes syndrome","Pierre Robin syndrome-fetal chondrodysplasia syndrome","Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome","PIFP","Pigment anomaly-ectrodactyly-hypodontia syndrome","Pigmentary disorder with deafness","Pigmentary disorder with hearing loss","Pigmentary hairy epidermal nevus","pigmentary pallidal degeneration","pigmented epitheliomatosis","Pigmented hairy epidermal naevus","Pigmented hairy epidermal nevus","pigmented villonodular synovitis","Pilar cyst","Pilar tumor","Pilar tumour","Pilarowski-Bjornsson syndrome","Pili annulati","Pili multigemini","pili torti (disease)","Pili trianguli et canaliculi","Pillay syndrome","Pilomatricoma","pilomatricoma, somatic","pilomatrixoma, benign","pilosebaceous nevoid disorder","pineal gland PNET","pineal gland primitive neuroectodermal neoplasm","pineal gland primitive neuroectodermal tumor","pineal gland primitive neuroectodermal tumour","pineal PNET","pineal primitive neuroectodermal neoplasm","pineal primitive neuroectodermal tumor","pineal primitive neuroectodermal tumour","pinealocytoma","pineoblastoma (WHO grade IV)","pineoblastoma, malignant","pineocytoma (disease)","Pineocytoma (WHO grade I)","pineocytoma, benign","Pingelapese blindness","Pinheiro-Freire Maia-Miranda syndrome","piroplasmosis","PITA4","Pitt syndrome","Pitt-Hopkins like syndrome 1","Pitt-Rogers-Danks syndrome","pituicytoma (WHO grade I)","pituitary adenocarcinoma (disease)","pituitary adenoma 4, ACTH-secreting","pituitary adenoma 4, ACTH-secreting, somatic","pituitary adenoma, ACTH-secreting","Pituitary corticotroph micro-adenoma","pituitary gland adenocarcinoma","pituitary gland apoplexy","pituitary gland carcinoma","pituitary gland prolactinoma","pituitary hormone deficiency, combined","pituitary hormone deficiency, combined, type 3","Pituitary lactotrophic adenoma","pituitary prolactinoma","Pituitary thyrotrophic adenoma","Pituitary tumor apoplexy","Pituitary-dependent Cushing syndrome","pityriasis rubra pilaris--familial type","Piussan-Lenaerts-Mathieu syndrome","PJP","PJS","PK deficiency","PKAN","PKDYS","PKDYS2","PKU","PLAAND","placental site gestational trophoblastic tumor","placental site gestational trophoblastic tumour","placental site trophoblastic tumor (morphologic abnormality)","placental site trophoblastic tumour (morphologic abnormality)","placental-site gestational trophoblastic neoplasm","placental-site GTT","Plamoplantar hyperkeratosis nummularis","Plamoplantar keratoderma nummularis","PLAN","Plantar fibromatosis","Plantar lipomatosis-facial dysmorphism-developmental delay syndrome","Plantar lipomatosis-unusual facies-developmental delay syndrome","plantar part of pes superficial Fibromatosis","plasma cell myeloid neoplasm","Plasma cell myeloma","Plasma thromboplastin antecedent deficiency","plasmin inhibitor deficiency","Plasminogen deficiency type 1","plasminogen deficiency, type I","Platelet alpha-granule deficiency","Platyspondylic dysplasia, Torrance-Luton type","Platyspondylic lethal skeletal dysplasia, Torrance type","platyspondylic skeletal dysplasia, Torrance type","Plectin-related LGMD R17","pleomorphic thyroid gland carcinoma","pleuro-pulmonary blastoma familial tumour susceptibility syndrome","Pleuropulmonary blastoma familial tumor and dysplasia syndrome","pleuropulmonary blastoma familial tumour susceptibility syndrome","PLO-SL","PLOSL","Plott syndrome","PLS","PLSD-T","Plumbism","PM","PMD","PMDS","PME type 1","PME type 2","PME type 3","PME type 5","PMED","PML","PMP","PMPS","PMSE syndrome","PNDM","PNET of pineal gland","PNET of the pineal gland","Pneumoblastoma","pneumoconiosis from asbestos dust","Pneumocystis","Pneumocystis carinii pneumonia","Pneumocystis jirovecii pneumonia","Pneumocystis Pneumonia","PNH","PNMHH","PNPase deficiency","POADS","POH","Poikiloderma of Kindler","Poikiloderma of Rothmund-Thomson","POIS","poisoning by venomous snake","poisoning caused by scorpion venom","poisoning due to scorpion venom","Poland anomaly","Poland sequence","Polia","polio","POLR-related leukodystrophy","Poly-X","polyarteritis nodosa, childhood-onset","polyarthritis enterica","polyarthritis with rheumatoid factor","polyarthritis without rheumatoid factor","polyarticular JIA, RF+","polyarticular juvenile idiopathic arthritis, RF+","polyarticular juvenile idiopathic arthritis, rheumatoid Factor Positive","Polychondropathia","polycystic kidney disease, autosomal dominant","polycystic kidney disease, autosomal recessive","polycystic kidney disease, infantile type","Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy","polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly","polycystic liver disease","polycythaemia rubra vera","Polycythemia rubra vera","polycythemia vera, somatic","Polydactyly postaxial with median cleft of upper lip","polydactyly with neonatal chondrodystrophy type 1","polydactyly with neonatal chondrodystrophy type III","polydactyly with neonatal chondrodystrophy, type 3","Polyepiphyseal dysplasia type 1","Polyepiphyseal dysplasia type 4","Polyepiphyseal dysplasia type 5","polyglandular autoimmune syndrome type 1","polyhydramnios, megalencephaly, and symptomatic epilepsy","Polymerase proofreading-related adenomatous polyposis","Polymorphic eruption of pregnancy","Polymorphic ventricular tachycardia induced by catecholamines","Polymorphic vitelline macular degeneration","Polyneuropathy-endocrinopathy-plasma cell dyscrasia syndrome","Polyneuropathy-hand defect syndrome","polyostotic sclerosing histiocytosis","Polyphenotypic small round cell tumor","Polyphenotypic small round cell tumour","Polypoid prolapsing folds","polyposis coli","polyposis, juvenile intestinal","polyps and spots syndrome","Polyrhinia","polysyndactyly","polysyndactyly with peculiar skull shape","Polysyndactyly, Haas type","Polyvalvular heart disease syndrome","POMA","POMA syndrome","POMGNT2-related LGMD R24","POMGNT2-related muscular dystrophy","Pompe disease","Poorly differentiated neuroendocrine carcinoma of the bladder","popliteal pterygium syndrome 1","popliteal pterygium syndrome, autosomal dominant","popliteal pterygium syndrome, Bartsocas-Papas type 1","popliteal pterygium syndrome, lethal type","Popliteal web syndrome","Porak and Durante disease","PORD","porencephaly 1","porencephaly type 1","Poretti-Boltshauser syndrome","porokeratosis 2, palmar, plantar, and disseminated","Porphyria due to delta-aminolevulinate dehydratase deficiency","Porphyria of Doss","Porphyria variegata","port wine birthmark","port wine Nevus","port wine stain","port wine stain of skin","port wine stain of the skin","port wine type hemangioma","port-wine stain with oculocutaneous melanosis","Post Polio Syndrome","post-infectious encephalomyelitis","post-transplant lymphoproliferative disorder","Postaxial acrodysostosis","Postaxial polydactyly-intellectual disability syndrome","Postaxial syndactyly with metacarpal synostosis","posterior pituitary astrocytoma","Posterior polymorphous dystrophy","Posterior Urethral Valves","Postpartum cardiomyopathy","postpartum hypopituitarism","postpolio sequelae","Postpolio syndrome","Postpoliomyelitic syndrome","postpoliomyelitis sequelae","POT","Potato-grubbing palsy","Potocki-Lupski syndrome","Potocki-Lupski syndrome, Isolated cases","Potter sequence-cleft lip/palate-cardiopathy syndrome","Powell-Chandra-Saal syndrome","Powell-Venencie-Gordon syndrome","PPAP","PPB familial tumor and dysplasia syndrome","PPB familial tumour susceptibility syndrome","PPBFTDS","PPC","PPCD","PPD","PPFG","PPHS","PPK mutilans and deafness","PPK mutilans and hearing loss","PPK nummularis","PPK, Nagashima type","PPK-CA, Stevanovic type","PPK-CA, Wallis type","PPK-deafness syndrome","PPKP1","PPKP3","PPM-X","PPNET","Prader-Labhart-Willi syndrome","Prader-Willi habitus-osteopenia-camptodactyly syndrome","Prader-Willi-Labhart syndrome","Prader-Willi-like syndrome due to deletion 6q16","Prader-Willi-like syndrome due to microdeletion 6q16","Prata-Liberal-Goncalves syndrome","pre-eclampsia","pre-eclamptic toxaemia","pre-eclamptic toxemia","Preaxial acrodysostosis","preaxial brachydactyly syndrome, TEMTAMY type","Precalicial canalicular ectasia","precocious puberty, male","preeclampsia/eclampsia","pregnancy toxaemia","Pregnancy-related cholestasis","premature ageing appearance-developmental delay-cardiac arrhythmia syndrome","Premature aging appearance-developmental delay-cardiac arrhythmia syndrome","Premature degenerative osteoarthropathy of the hip","premature senility syndrome","Prenatal methylmercury poisoning","PRICKLE2 progressive myoclonic epilepsy","Prieto syndrome, X-linked recessive","Prieto-Badia-Mulas syndrome","Prieur-Griscelli syndrome","Primary acalvaria","Primary achalasia","primary acquired sideroblastic anaemia","Primary acquired sideroblastic anemia","Primary Addison disease","Primary adrenal insufficiency","primary aldosteronism, seizures, and neurologic abnormalities","primary amyloidosis","primary Bilary cirrhosis (PBC)","primary bilateral macronodular adrenal hyperplasia","Primary biliary cirrhosis","Primary biliary cirrhosis and systemic scleroderma","Primary calpainopathy","primary carnitine deficiency","Primary central nervous system vasculitis","primary congenital erythrocytosis","Primary congenital glaucoma","Primary Congenital glaucoma 3A","primary congenital lymphedema","Primary cryoglobulinemia","Primary Distal Renal Tubular Acidosis","Primary dystonia with mixed phenotype","Primary erythermalgia","primary erythroid hypoplasia","Primary familial amyloidosis of the cornea","Primary familial and congenital polycythemia","Primary familial brain calcification","Primary Fanconi renal syndrome","Primary GH insensitivity","Primary GH resistance","Primary growth hormone insensitivity","Primary growth hormone resistance","primary hemophagocytic lymphohistiocytosis","Primary hereditary and congenital erythrocytosis","Primary hereditary and congenital polycythemia","Primary hyperkalemic periodic paralysis","Primary hyperPP","primary hypersomnia","Primary immunodeficiency syndrome due to P14 deficiency","primary immunodeficiency syndrome with short stature","Primary insulin-like growth factor deficiency","primary liver neuroendocrine carcinoma","primary malignant brain rhabdoid neoplasm","primary malignant brain rhabdoid tumor","primary malignant brain rhabdoid tumour","Primary malignant peritoneal mesothelioma","primary malignant rhabdoid neoplasm of brain","primary malignant rhabdoid neoplasm of the brain","primary malignant rhabdoid tumor of brain","primary malignant rhabdoid tumor of the brain","primary malignant rhabdoid tumour of brain","primary malignant rhabdoid tumour of the brain","Primary membranous nephropathy","Primary MPGN","primary peritoneal cancer","primary peritoneal carcinoma (disease)","Primary peritoneal serous carcinoma","Primary Progressive Nonfluent aphasia","primary renal tubular hypokalemic hypomagnesemia with hypocalciuria","Primary SjD","primary Sjogren-Gougerot syndrome","Primary Sjögren syndrome","primary thrombocythemia","primary thrombocytosis","primary thymic epithelial neoplasm","primary thymic epithelial tumor","primary thymic epithelial tumour","primary thyroid gland lymphoma","Primary torsion dystonia with predominant craniocervical or upper limb onset","Primary vasculitis of the central nervous system","Primitive hypertrophic obstructive cardiomyopathy","Primitive hypertrophic subaortic stenosis","primitive neuroectodermal neoplasm of pineal gland","primitive neuroectodermal neoplasm of the pineal gland","primitive neuroectodermal tumor of pineal gland","primitive neuroectodermal tumor of the pineal gland","primitive neuroectodermal tumour of pineal gland","primitive neuroectodermal tumour of the pineal gland","Primitive renal tubule syndrome","Primordial microcephalic dwarfism, Crachami type","Primrose syndrome","prion dementia","PRL producing pituitary gland adenoma","PRL-secreting pituitary adenoma","PRLoma","Proaccelerin deficiency","Progeria","Progeroid syndrome, De Barsy type","Progressive avascular necrosis of the lunate bone","Progressive cephalothoracic lipodystrophy","progressive choroidal atrophy","Progressive diaphyseal dysplasia","Progressive diffuse palmoplantar keratoderma","Progressive diffuse PPK","Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy","Progressive encephalopathy with severe infantile anorexia","progressive encephalopathy-optic atrophy syndrome","Progressive external ophthalmoplegia and scoliosis","progressive external ophthalmoplegia, autosomal dominant","progressive external ophthalmoplegia, autosomal recessive","Progressive facial hemiatrophy","Progressive hearing loss with stapes fixation","progressive intracranial arterial occlusion","Progressive isolated segmental anhidrosis","Progressive massive osteolysis","Progressive multifocal leukoencephalitis","progressive myoclonic epilepsy caused by mutation in PRICKLE2","Progressive myoclonic epilepsy type 2","Progressive myoclonus epilepsy type 1","Progressive myoclonus epilepsy type 2","Progressive myoclonus epilepsy type 3","progressive myoclonus epilepsy type 5","Progressive myoclonus epilepsy with dystonia","progressive myositis ossificans","Progressive neuronal degeneration of childhood with liver disease","Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome","Progressive pseudorheumatoid arthropathy of childhood","progressive supranuclear ophthalmoplegia","Progressive symmetric erythrokeratodermia, Gottron type","prolactin producing adenoma of pituitary","prolactin producing adenoma of pituitary gland","prolactin producing adenoma of the pituitary","prolactin producing adenoma of the pituitary gland","prolactin producing pituitary adenoma","prolactin producing pituitary gland adenoma","prolactin secreting adenoma","prolactin secreting adenoma of pituitary","prolactin secreting adenoma of pituitary gland","prolactin secreting adenoma of the pituitary","prolactin secreting adenoma of the pituitary gland","prolactin secreting pituitary gland adenoma","Prolactin-secreting pituitary adenoma","prolactinoma of pituitary","prolactinoma of pituitary gland","prolactinoma of the pituitary","prolactinoma of the pituitary gland","proliferating Pilar tumor","proliferating Pilar tumour","proliferating trichilemmal tumor","proliferating trichilemmal tumour","proliferating Tricholemmal tumor","proliferating Tricholemmal tumour","Proline oxidase deficiency","Prolonged electroretinal response suppression","promyelocytic leukaemia","promyelocytic leukemia","Propionic aciduria","Propionyl-CoA carboxylase deficiency","Protein C Deficiency","Protein C deficiency disease","Protein defect of cystin transport","proteinuric hypertension of pregnancy","proteus syndrome, somatic","prothrombin consumption deficiency","Prothrombin deficiency","Protocadherin 19 clustering epilepsy","Protocoproporphyria","Protoporphyrinogen oxidase deficiency","Proud syndrome","Proud-Levine-Carpenter syndrome","Proximal 11p deletion syndrome","Proximal del(16)(p11.2)","Proximal del(3)p(25.3) syndrome","Proximal dup(16)(p11.2)","Proximal monosomy 16p11.2","Proximal monosomy 3p25.3 syndrome","Proximal myotonic dystrophy","proximal symphalangism (disease)","Proximal trisomy 16p11.2","PRP","PRPP synthetase superactivity","PRS","pRTA","Pruriginous dystrophic epidermolysis bullosa","PSC","pseudo vitamin-D deficient rickets","Pseudo-Angelman syndrome","Pseudo-Best disease","Pseudo-Hurler polydystrophy","Pseudo-NALD","Pseudo-neonatal adrenoleukodystrophy","pseudo-TORCH syndrome","Pseudo-TORCH syndrome-1","Pseudo-trisomy 13 syndrome","Pseudo-vitelliform macular dystrophy","Pseudoachondroplastic dysplasia","Pseudoachondroplastic spondyloepiphyseal dysplasia","Pseudoadrenoleukodystrophy","Pseudoaldosteronism","Pseudocoma","pseudoglanders","pseudohermaphroditism, incomplete male, type I","pseudohermaphroditism-intellectual disability syndrome","pseudohyperkalemia, familial, 2, due to red cell leak","pseudohypoaldosteronism, type II","Pseudohypoparathyroidism Ia","pseudohypoparathyroidism Ib","pseudohypoparathyroidism Ic","pseudomyxoma peritonei (morphologic abnormality)","Pseudopapilledema-blepharophimosis-hand anomalies syndrome","Pseudothalidomide syndrome","Pseudotoxoplasmosis syndrome","Pseudotumor cerebri","Pseudovaginal perineoscrotal hypospadias","Pseudovitamin D-deficient rickets","Pseudoxanthoma elasticum-like syndrome","PSHK2","PSIS","Psoriasis-related JIA","PSP syndrome","PSS 2","PSST","Psychogenic dystonia","Psychogenic purpura","PTA deficiency","PTC-RCC","PTLD","PTORCH1","PTPR","PUAH","Pudendal algia","pudendal nerve neuralgia","Pudendal neuralgia","Pudendal neuralgia by pudendal nerve entrapment","Pudendal neuropathic pain syndrome","Pudendal neuropathy","Pudendalgia","pulmonary agenesis microphthalmi and diaphragmatic defect","pulmonary alveolar proteinosis, congenital, 1","Pulmonary anthrax","pulmonary artery absent","pulmonary artery agenesis","Pulmonary artery coming from the aorta","pulmonary hemosiderosis","Pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome","Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome","Pulmonary lymphangiomatosis","Pulmonary pseudolymphoma","pulmonary siderosis","pulmonary valve atresia with intact ventricular septum","Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome","Punctate palmoplantar hyperkeratosis type 3","Punctate palmoplantar keratoderma type 3","PUPPP","Pure aldosterone-producing adrenocortical carcinoma","Pure aldosterone-secreting adrenocortical carcinoma","Pure APAC","Pure CAS","Pure childhood apraxia of speech","Pure dysautonomia","Pure idiopatic dysautonomia","Pure sideroblastic Anaemia","Pure sideroblastic Anemia","Purkinje cell hamartoma","Purpura rheumatica","Pustular drug eruption","Pustulo-psoriatic hyperostotic Spondyloarthritis","Pustulosis subcornealis","PUV","PV","PXE","PXE-like syndrome","PXE-like syndrome with retinitis pigmentosa","Pyknodysostosis","Pyknolepsy","Pyle's syndrome","Pyle-Cohn syndrome","Pyogenic arthritis-pyoderma gangrenosum-acne syndrome","pyridox(am)ine 5’-phosphate oxidase deficiency","Pyridoxal phosphate-dependent seizures","Pyridoxal phosphate-responsive seizures","Pyridoxamine 5'-phosphate oxidase deficiency","pyridoxine 5' phosphate oxidase deficiency","pyridoxine-dependent epilepsy","pyroglutamic aciduria","Pyroglutamicaciduria","pyruvate carboxylase deficiency disease","pyruvate decarboxylase deficiency","Pyruvate dehydrogenase complex deficiency","Pyruvate Kinase Deficiency","pyruvate kinase deficiency of erythrocyte","Pyruvate kinase deficiency of erythrocytes","pyruvate kinase deficiency of red cells","Quadriceps-sparing myopathy","Quadrilateral fever","Quadruple X","Quantal squander syndrome","Quaternary A syndrome","Query fever","Question mark ear syndrome","r(1) syndrome","r(11) syndrome","r(22) syndrome","r(4) syndrome","r(8) syndrome","r(Y)","RA","RAAS-blocker-induced angioedema","RAAS-blocker-induced angioneurotic edema","Raas-blocker-induced angioneurotic oedema","RAD","radial aplasia-thrombocytopenia syndrome","radial clubhand","radial hypoplasia triphalangeal thumbs hypospadias maxillary diastema","radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema","radial longitidinal meromelia","radial ray agenesis","radioulnar fusion","radioulnar synostosis","radioulnar synostosis (disease)","radioulnar synostosis with developmental delay and hypotonia syndrome","RAE","RAEB","Raine syndrome","Rajab-Spranger syndrome","Rapidely progressive cerebellar syndrome","Rapidly involuting congenital haemangioma","rare inborn error of 5-oxoprolinase (ATP-hydrolyzing) activity","rare inborn error of glutamate-cysteine ligase activity","rare inborn error of glutathione hydrolase activity","rare inborn error of glutathione synthase activity","Rare isolated genetic deafness","Rare isolated genetic hearing loss","Rare non-syndromic genetic hearing loss","RARS","RARS leukodystrophy","Rasmussen Encephalitis","Rasmussen subacute encephalitis","Rasmussen-Johnsen-Thomsen syndrome","Rathbun disease","Rathburn disease","Rathke pouch neoplasm","Rathke pouch tumor","Rathke pouch tumour","Ray-Peterson-Scott syndrome","Raynaud-Claes syndrome","Raynaud-Claes syndrome, X-linked dominant","RB","RB-ILD","RBS","RC11","RCDP","RCH","RCVS","RDD","RDEB generalisata gravis","RDEB generalisata mitis","RDEB inversa","RDEB, generalised intermediate","RDEB, generalized intermediate","RDEB, Hallopeau-Siemens type","RDEB, non-Hallopeau-Siemens type","RDEB-generalized other","RDEB-I","RDEB-O","RDEB-sev gen","Reactive amyloidosis","reactive hemophagocytic lymphohistiocytosis","REAR syndrome","Reardon-Baraitser syndrome","Reardon-Hall-Slaney syndrome","Rec(8) syndrome","Rec8 syndrome","recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type","Recessive Multiple Epiphyseal Dysplasia","Recessive X-linked ichthyosis with extracutaneous manifestations","Recombinant chromosome 8 syndrome","Rectal NET","rectal neuroendocrine neoplasm","Rectal neuroendocrine tumor","rectum neuroendocrine neoplasm","Rectus abdominis syndrome","Recurrent acute necrotizing encephalopathy","Recurrent encephalophathy of childhood","Recurrent hereditary corneal erosions","Recurrent intrahepatic cholestasis of pregnancy","Recurring digital fibrous tumor of childhood","recurring digital fibrous tumour of childhood","Red oculocutaneous albinism","RED-M","Reed syndrome","Reflex sympathetic dystrophy","refractory anaemia","refractory Anaemia with an Excess of blasts","refractory Anaemia with Excess blasts","refractory Anaemia with Ring sideroblasts","refractory Anaemia with ringed sideroblasts","Refractory anemia","refractory Anemia with an Excess of blasts","Refractory anemia with excess blasts","refractory Anemia with Ring sideroblasts","Refractory anemia with ringed sideroblasts","Refractory CD","Refractory sprue","Refsum Disease","Refsum disease, adult, 1","Refsum disease, classic","Reginato-Schiapachasse syndrome","Regional choroidal atrophy and alopecia","Regressive metaphyseal dysplasia","Reifenstein syndrome","Reifenstein syndrome, partial","Reinhardt-Pfeiffer mesomelic dysplasia","Reinhardt-Pfeiffer syndrome","Reiter syndrome","Reiter's disease","Relapsing febrile nodular nonsuppurative panniculitis","Relapsing febrile nodular panniculitis","remnant disease","Remnant hyperlipoproteinemia","renal agenesis (disease)","renal agenesis/hypoplasia","Renal caliceal diverticuli-hearing loss syndrome","renal carnitine transport defect","renal dysplasia (disease)","Renal dysplasia-limb defects syndrome","Renal dysplasia-mesomelia-radiohumeral fusion syndrome","Renal dysplasia-retinal aplasia syndrome","Renal embryonic tumor","renal embryonic tumour","Renal Fanconi syndrome with nephrocalcinosis and renal stones","Renal Glycosuria","renal hamartomas, nephroblastomatosis and fetal gigantism","renal hamartomas, nephroblastomatosis and foetal gigantism","renal hypoplasia (disease)","Renal tubular acidosis type 1","Renal tubular acidosis type 2","Renal tubular acidosis type 3","Renal tubular normotensive hypokalemic alkalosis with hypercalciuria","renal Wilms tumor","renal Wilms tumour","renal-coloboma syndrome with macular abnormalities","Renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome","Rendu-Osler disease","Rendu-Osler-Weber disease","Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema","renin-angiotensin-aldosterone system-blocker-induced angioneurotic oedema","Renohepaticopancreatic dysplasia","Renotubular dysgenesis","Renpenning syndrome type 1","renpenning syndrome, X-linked recessive","RENU","ReNU syndrome","Resistance to IGF-1","Resistance to thyroid hormone beta","Resistance to thyroid hormone due to a mutation in TRb","Resistance to thyroid stimulating hormone","Respiratory anthrax","Respiratory anthrax disease","respiratory distress syndrome, adult","Reticular pigment anomaly of flexures","reticulate acropigmentation of Dohi","Retinal detachment-occipital encephalocele syndrome","Retinal dystrophy-juvenile cataract-short stature syndrome","Retinal vasculopathy and cerebral leukoencephalopathy","Retinitis pigmentosa and intellectual disability due to del(X)(p11.3)","Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3","Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion","Retinitis pigmentosa-deafness syndrome","Retinitis pigmentosa-hearing loss syndrome","retinoblastoma, malignant","Retinocochleocerebral vasculopathy","Retinoic acid embryopathy","Retinoid embryopathy","Retinoids embryopathy","Retinopathy-anemia-central nervous system anomalies syndrome","retinopathy-encephalopathy-deafness associated with microangiopathy","retinoschisis, X-linked","retinoschisis, X-linked recessive","Retrolental fibroplasia","Rett syndrome variant","Rett syndrome, atypical, X-linked dominant","Rett syndrome, preserved speech variant, X-linked dominant","Rett syndrome, X-linked dominant","Rett’s disease","Reversible infantile cytochrome C oxidase deficiency","Reversible infantile respiratory chain deficiency","Revesz-DeBuse syndrome","Reye tumor","Reye tumour","RFMN","Rh-null syndrome","rhabdoid neoplasm of central nervous system","rhabdoid neoplasm of CNS","rhabdoid neoplasm of the central nervous system","rhabdoid neoplasm of the CNS","rhabdoid sarcoma","rhabdoid tumor of central nervous system","rhabdoid tumor of CNS","rhabdoid tumor of the central nervous system","rhabdoid tumor of the CNS","rhabdoid tumour of central nervous system","rhabdoid tumour of CNS","rhabdoid tumour of the central nervous system","Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome","rheumatoid arthritis with splenoadenomegaly and leukopenia","rheumatoid factor-negative JIA","Rheumatoid factor-negative polyarticular JIA","Rheumatoid factor-positive polyarticular JIA","Rheumatoid purpura","rhizomelic chondrodysplasia punctata syndrome","rhizomelic chondrodysplasia punctata type 4","rhizomelic dwarfism","Rhizomelic shortness with clavicular defect","riboflavin transmembrane transporter activity disease","RICH","Richardson-Kirk syndrome","Richieri Costa-Guion Almeida-Ramos syndrome","Richieri-Costa-Colletto syndrome","Richieri-Costa-Gorlin syndrome","Richner-Hanhart syndrome","Ricker disease","Ricker syndrome","rickets, vitamin D-resistant","Rieger anomaly-partial lipodystrophy syndrome","Rieger syndrome","right bundle branch block, ST segment elevation, and sudden death syndrome","Rigid spine congenital muscular dystrophy","Riley-Day syndrome","Ring 1","Ring 10","Ring 11","Ring 12","Ring 13","Ring 14","Ring 15","Ring 16","Ring 17","Ring 18","Ring 19","Ring 2","Ring 20","Ring 22","Ring 3","Ring 4","Ring 6","Ring 7","Ring 8","Ring 9","Ring chromosome 1","Ring chromosome 10","Ring chromosome 11","Ring chromosome 12","Ring chromosome 13","Ring chromosome 14","ring chromosome 14 syndrome, isolated cases","Ring chromosome 15","Ring chromosome 16","Ring chromosome 17","Ring chromosome 18","Ring chromosome 19","Ring chromosome 2","Ring chromosome 20","Ring chromosome 22","Ring chromosome 3","Ring chromosome 4","Ring chromosome 6","Ring chromosome 7","Ring chromosome 8","Ring chromosome 9","Ring chromosome type 1","Ring chromosome type 10","Ring chromosome type 11","Ring chromosome type 12","Ring chromosome type 13","Ring chromosome type 14","Ring chromosome type 15","Ring chromosome type 16","Ring chromosome type 17","Ring chromosome type 18","Ring chromosome type 19","Ring chromosome type 2","ring chromosome type 20","Ring chromosome type 21","Ring chromosome type 22","Ring chromosome type 3","Ring chromosome type 4","Ring chromosome type 6","Ring chromosome type 7","Ring chromosome type 9","Ring chromosome type Y","Ring chromosome Y","Ritscher-Schinzel syndrome","Rivera-Perez-Salas syndrome","rMED","RNS","RNU4-2-related neurodevelopmental syndrome","RNU4-2-related ReNU syndrome","Roberts syndrome/SC phocomelia","Roberts tetraphocomelia syndrome","Roberts-SC phocomelia syndrome","Robinow dwarfism","Robinow-Silverman-Smith syndrome","Robinow-Unger syndrome","Rod monochromacy","Rod monochromatism","Rogers syndrome","ROHHAD","ROHHAD syndrome","ROHHADNET","Roifman Immunoskeletal syndrome","Roifman-Chitayat syndrome","Roifman-Chitayat syndrome, digenic","Rokitansky Kuster Hauser syndrome","Rokitansky syndrome","Rolandic epilepsy","Rolandic epilepsy exercise-induced dystonia","Romano-Ward long QT syndrome","Romano-Ward syndrome","Romberg syndrome","ROP","Rosaï-Dorfman-Destombes disease","rose cluster 2","rose cluster 3","rose cluster 4","rose cluster 6","rose cluster 7","rose cluster 8","Rosenberg Chutorian Syndrome","Rosenberg-Lohr syndrome","Rosenthal factor deficiency","Rosenthal syndrome","Rosenthal's disease","Roussy-levy disease","Rozin camptodactyly syndrome","RPA","RRP","RSH syndrome","RTHb","RTS","RTT","rubella congenital","Rufous oculocutaneous albinism","runt disease","Russell diencephalic cachexia","Russell Silver syndrome","Russell syndrome","Russell-Silver dwarfism","Russell-Weaver-Bull syndrome","Rutherfurd syndrome","Rutledge lethal multiple congenital anomaly syndrome","RVCL","RVCL-S","RVF","RXLI","S cone monochromacy","S cone monochromatism","Saccharopine dehydrogenase deficiency","Sack-Barabas syndrome","sacral agenesis syndrome","sacral regression syndrome","SACRAL syndrome","SADDAN","SADDAN dysplasia","Saethre-Chotzen syndrome with or without eyelid anomalies","Saito-Kuba-Tsuruta syndrome","Salcedo syndrome","Saldino-Noonan syndrome","Salih ataxia","Salmon patch Nevus","Salt-losing tubular disorder, Henle's loop type","Salt-wasting tubulopathy, Henle's loop type","SAMS 1-31","San Joaquin valley fever","San Luis Valley syndrome","Sandhoff Jatzkewitz disease","SANDO","Sandrow syndrome","Sanfilippo disease","Sanfilippo syndrome","Santavuori congenital muscular dystrophy","Santos-Mateus-Leal syndrome","SAO","SAOA","Sara Angers syndrome","sarcoid","sarcoidosis, early-onset","sarcoma of lip","sarcoma of mast cell","sarcoma, breast, leukemia and adrenal gland syndrome","sarcomatoid thyroid gland carcinoma","Sarcosine dehydrogenase complex deficiency","Sarcotubular myopathy","SARS","SARS coronavirus caused disease or disorder","SARS coronavirus disease or disorder","SARS coronavirus infectious disease","SARS-1","Saturnism","Saul-Wilson syndrome","Say-Barber-Biesecker-Young-Simpson syndrome","Say-Barber-Hobbs syndrome","Say-Meyer syndrome","SBA","SBBYS variant of Ohdo syndrome","SBBYSS","SBBYSS syndrome","SBCAD deficiency","SBIDDS","SBLA syndrome","SBMA","SBS","SC phocomelia","SC phocomelia syndrome","SC pseudothalidomide syndrome","SCA 17","SCA1","SCA10","SCA11","SCA12","SCA13","SCA14","SCA15/16","SCA17","SCA18","SCA19/22","SCA2","SCA21","SCA23","SCA26","SCA27","SCA27A","SCA28","SCA29","SCA3","SCA31","SCA34","SCA35","SCA36","SCA38","SCA4","SCA40","SCA41","SCA42","SCA43","SCA5","SCA6","SCA7","SCA8","SCABD","SCAD","SCAD deficiency","SCADD","SCAE","SCAN 2","SCAN1","SCAN2","SCAP","Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome","Scapuloiliac dysostosis","SCAR1","SCAR10","SCAR11","SCAR12","SCAR14","SCAR15","SCAR16","SCAR17","SCAR2","SCAR20","SCAR21","SCAR23","SCAR3","SCAR4","SCAR5","SCAR6","SCAR7","SCAR8","SCAR9","SCARMD","SCASI","SCAX3","SCAX4","SCAX5","SCBMS","scc of esophagus","scc of the esophagus","scc of the oesophagus","SCCB","Schaap-Taylor-Baraitser syndrome","SCHAD deficiency","Schimke immunoosseous dysplasia","Schimke syndrome","Schimmelpenning syndrome","Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic","Schindler disease","Schinzel syndrome","Schinzel-Giedion midface-retraction syndrome","Schlichting dystrophy","Schmidt syndrome","Schmitt-Gillenwater-Kelly syndrome","Schoenlein-Henoch purpura","Schofer-Beetz-Bohl syndrome","Scholte syndrome","Scholte-Begeer-van Essen syndrome","Schwachman-Diamond syndrome","Schwachmann-Diamond syndrome","schwannoma","schwannoma (WHO grade I)","schwannoma, benign","Schwannomatosis","Schwartz-Jampel syndrome neonatal","Schwartz-Jampel syndrome type 1","Schwartz-Jampel syndrome type 2","Schwartz-Jampel-Aberfeld syndrome","Schwartz-Lelek syndrome","SCID due to adenosine deaminase deficiency","SCID due to ARTEMIS deficiency","SCID T-B-NK+ due to ARTEMIS deficiency","SCID T-B-NK+, Athabascan type","SCID T-B-NK+, Athabaskan type","SCID with leukopenia","SCID with macrocephaly due to DNA ligase IV deficiency","SCID with sensorineural deafness","SCID with sensorineural hearing loss","SCID, Athabascan type","SCID, Athabaskan type","SCID, autosomal recessive, T-negative/B-positive type","SCIDX1","SCKL","SCKL7","scleroatonic muscular dystrophy","scleroatonic Ullrich disease","Scleroatrophic syndrome","Scleroderma, systemic","scleromyxoedema","Sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome","Sclerotylosis","SCLS","SCM type 1","SCM type I","SCOT deficiency","Scott craniodigital syndrome","Scott-Bryant-Graham syndrome","Scott-Taor syndrome","scrub mite-borne typhus","SCS","SCT","SCTS","SD/THE","SD3","SD5","sdCHC","SDS","SDYS","Seaver-Cassidy syndrome","Sebastian platelet syndrome","Sebastian syndrome","Seborrheic pemphigus","Seckel syndrome 7","Seckel syndrome type 7","Seckel-type Dwarfism","secondary amyloidosis","Secondary erythermalgia","Secondary non-traumatic AVN","Secondary non-traumatic osteonecrosis","secondary non-tropical sprue","Secondary SRNS","Secondary steroid-resistant nephrotic syndrome","SECORD","SED congenita","SED-BDS","SEDC","Sedlackova syndrome","sedoheptulokinase deficiency","Seemanova syndrome","Seemanova syndrome type 2","Seemanova-Lesny syndrome","Segawa syndrome, recessive","Seghers syndrome","Segmental hyalinizing vasculitis","SEI","Seip-Bernardinelli syndrome","Seitelberger disease","seizures, benign familial infantile","seizures, benign familial infantile, 3","seizures, benign familial neonatal","seizures, cortical blindness, microcephaly syndrome","seizures, scoliosis, and macrocephaly syndrome","selective 1-alpha, 25-hydroxyvitamin D3 deficiency","Selective anti-polysaccharide antibody deficiency","Selective cobalamin malabsorption with proteinuria","Selective IgG subclass deficiency","selective IgM deficiency disease","Selective immunoglobulin M deficiency","Selective tooth agenesis","SeLECTS","Self-healing collodion baby","Self-improving congenital ichthyosis","Self-improving DEB","SeLFNIE","SeLIE","Sellars-Beighton syndrome","SeLNE","Semantic primary progressive aphasia","Semantic variant PPA","SEMD type 2","SEMD, aggrecan type","SEMD, Irapa type","SEMD, matrilin-3 type","SEMD, Missouri type","SEMD, Shohat type","SEMD-MD","SEMDFA","SEMDJL2","Semicircular lipoatrophy","SENDA","Senear-Usher syndrome","Sengers syndrome","Sengers-Hamel-Otten syndrome","Senile systemic amyloidosis","Senior syndrome","Senior-Løken Syndrome","Sensenbrenner syndrome","Sensorineural deafness-early graying-essential tremor syndrome","Sensorineural hearing loss with dilated cardiomyopathy","Sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome","sensorineural hearing loss-pontobulbar palsy syndrome","sensory ataxic neuropathy, dysarthria, and ophthalmoparesis","Senter syndrome","Sepiapterin reductase deficiency","Septo-optic dysplasia","septo-optic dysplasia sequence","septooptic dysplasia","Serotonergic syndrome","Serotonin storm","Serotonin toxicity","Serotonin toxidrome","Serous surface papillary carcinoma","serpentine fibula polycystic kidney syndrome","serpentine fibula-polycystic kidneys syndrome","serrated polyposis","SeSAME syndrome","Severe C12ORF65-related combined oxidative phosphorylation defect","Severe C12ORF65-related COXPD","severe combined immunodeficiency due to ARTEMIS deficiency","severe combined immunodeficiency with leukopenia","Severe combined immunodeficiency with sensorineural deafness","Severe combined immunodeficiency with sensorineural hearing loss","severe combined immunodeficiency, B cell-negative","severe combined immunodeficiency, X-linked, X-linked recessive","severe congenital hypochromic sideroblastic anaemia","Severe congenital hypochromic sideroblastic anemia","severe congenital neutropenia, autosomal dominant","severe congenital neutropenia, X-linked","Severe disseminated CMV infection in immunocompetent patients","Severe dystrophinopathy, Duchenne type","Severe generalized JEB","Severe generalized RDEB","Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome","severe intellectual disability-progressive spastic diplegia syndrome","Severe limb deficit","severe MPS II","Severe myoclonic epilepsy of infancy","Severe myoclonus epilepsy of infancy","Severe PBD-ZSD","Severe peroxisome biogenesis disorder-Zellweger spectrum disorder","severe refractory status epilepticus owing to presumed encephalitis","Severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome","Sex reversion-kidneys, adrenal and lung dysgenesis syndrome","Sezary disease","SFD","SFMMP","SFT","SGB syndrome","SGBS","SGBS1","SGF","SGFLD syndrome","SGLT1 deficiency","SGLT2 deficiency","SGS","Shabbir syndrome","Shah-Waardenburg syndrome","Shaheen syndrome","Shapiro syndrome","Sharma-Kapoor-Ramji syndrome","Sharp syndrome","Shashi X-linked intellectual disability syndrome","Shashi X-linked mental retardation syndrome","SHCB","SHE","SHFLD syndrome","SHFM","SHFM associated with aplasia of long bones","SHFM3","SHFYNG","SHLTS","SHML","SHMS","shock syndrome (TSS), toxic","Shokeir syndrome","Short limb skeletal dysplasia with SCID","short QT syndrome","short rib-polydactyly syndrome Saldino-Noonan type","short rib-polydactyly syndrome type 1","Short rib-polydactyly syndrome type 3","short rib-polydactyly syndrome type III","short rib-polydactyly syndrome, type 2B","Short stature due to growth hormone resistance","Short stature due to growth hormone secretagogue receptor deficiency","Short stature due to partial growth hormone receptor deficiency","short stature, idiopathic familial","Short stature-developmental delay-congenital heart defect syndrome","Short stature-hearing loss-neutrophil dysfunction-dysmorphism syndrome","Short stature-locking fingers syndrome","short-chain acyl-CoA dehydrogenase deficiency (SCAD)","short-chain acyl-Coenzyme A dehydrogenase deficiency (SCAD)","short-rib thoracic dysplasia","short-rib thoracic dysplasia 3 with or without polydactyly","Short/branched-chain acyl-coA dehydrogenase deficiency","SHPKD","Shprintzen syndrome","Shulman syndrome","Shwachman syndrome","Shwachman-Bodian-Diamond syndrome","Shy-Drager syndrome","sialidosis type II","sialidosis, type I","sialolipidosis","Sialuria, French type","sIBM","sicca syndrome","SICI","Sickle Cell Disease","sickle-cell/Hb-C disease without crisis","sickling disorder due to Haemoglobin S","sickling disorder due to Hemoglobin S","Sickness of disembarkment","SICRET syndrome","SIDDT","Siderius X-linked intellectual disability syndrome","Siderius X-linked mental retardation syndrome","Siderius-Hamel syndrome","sideroblastic anaemia with spinocerebellar ataxia","sideroblastic anemia with spinocerebellar ataxia","sideroblastic anemia, X-linked","Sideropenic dysphagia","SIDP","SIDS deficiency","Siemerling-Creutzfeldt disease","silent pituitary gland adenoma","silk road disease","Silver spastic paraplegia syndrome","Silver syndrome","Silver-Russell dwarfism","Simosa craniofacial syndrome","Simosa-Penchaszadeh-Bustos syndrome","simple bone cyst","Simplexvirus caused infectious embryofetopathy","Simplexvirus caused infectious encephalitis","Simplexvirus infectious embryofetopathy","Simplexvirus infectious encephalitis","Simpson dysmorphia syndrome","Simpson-Golabi-Behmel syndrome type 1","Singh-Williams-McAlister syndrome","SINO syndrome","Sinus histiocytosis with massive lymphadenopathy","Sinus of Valsalva aneurysm","Sinusitis-infertility syndrome","Sinusoidal obstruction syndrome","Sisterolemia","sJIA","Sjogren syndrome","SJS","SJS-TEN","SJS1","SJS2","Sjögren-Gougerot syndrome","Skeletal dysplasia, Greenberg type","Skraban-Deardorff syndrome","SLE","SLE - lupus erythematosus, systemic","SLE, paediatric onset","SLE, pediatric onset","Sleeping sickness","SLO syndrome","SLOS","SLS","SLSJ-COX deficiency","SLSN","Sly disease","Sly syndrome","SM-AHN","SM-AHNMD","SMA","SMA-PME","SMAFK","SMAHN","SMAJ","Small cell bladder cancer","Small cell bladder carcinoma","Small cell carcinoma of the urinary bladder","small cell carcinoma of urinary bladder","small cell neuroendocrine carcinoma of the urinary bladder","small cell neuroendocrine carcinoma of urinary bladder","small infarctions of cochlear, retinal and encephalic tissue","Small intestinal atresia","small intestine atresia","Small non-cleaved cell lymphoma","small non-cleaved cell lymphoma, Burkitt's type","Small patella syndrome","SMAX1","SMAX2","SMCD","SMD","SMD-CRD","SMDP1","SMEI","Smith-Kingsmore syndrome","Smith-Magenis syndrome, Isolated cases","SMRXS","SMS","Sneddon-Wilkinson disease","Snyder-Robinson intellectual disability syndrome","Snyder-Robinson mental retardation syndrome","Snyder-Robinson syndrome","SOD","Sohval-Soffer syndrome","SoJIA","solitary cyst","Solitary mastocytoma","Solomon syndrome","Somatolactotropinoma","Somatoprolactinoma","somatostatin cell tumor","somatostatin producing tumor","somatostatin producing tumour","somatostatin-producing NET","somatostatin-producing neuroendocrine tumor","somatostatin-producing neuroendocrine tumour","Sommer-Hines syndrome","Sommer-Rathbun-Battles syndrome","Sommer-Young-Wee-Frye syndrome","Sonoda syndrome","Sorsby macular dystrophy","Sorsby pseudoinflammatory fundus dystrophy","Sotos syndrome 1","Sotos syndrome 2","Sotos syndrome type 1","Sotos syndrome type 2","SOVA","SOX5 haploinsufficiency syndrome","SPAD","SPAHGC","SPARCA","SPARCA1","Sparse hair-short stature-skin anomalies syndrome","Spasmus nutans (disease)","spastic ataxia 2","spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy","spastic ataxia type 1","spastic ataxia type 2","spastic ataxia type 3","spastic ataxia type 4","spastic ataxia type 5","spastic ataxia type 7","Spastic ataxia-ocular anomalies syndrome","Spastic gait type 2","Spastic paraparesis type 2","Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome","Spastic paraparesis-hearing loss syndrome","spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome","spastic paraplegia 14","spastic paraplegia 14, autosomal recessive","spastic paraplegia 16, X-linked, complicated, X-linked recessive","spastic paraplegia 2, X-linked, X-linked recessive","spastic paraplegia 20 (Troyer syndrome)","spastic paraplegia 23","spastic paraplegia 30, autosomal dominant","spastic paraplegia 34, X-linked, X-linked recessive","spastic Paraplegia 3A","spastic paraplegia 3a, autosomal dominant","spastic paraplegia 62, autosomal recessive","spastic paraplegia 70, autosomal recessive","spastic paraplegia 75, autosomal recessive","spastic paraplegia 76, autosomal recessive","spastic paraplegia 77, autosomal recessive","spastic paraplegia 78, autosomal recessive","spastic paraplegia 78, autosomal recessive; SPG78","spastic paraplegia and retinal degeneration","Spastic paraplegia due to neuropathy target esterase mutation","Spastic paraplegia due to NTE mutation","spastic paraplegia type 5B, recessive","spastic paraplegia with amyotrophy of hands and feet","spastic paraplegia with pigmentary abnormalities","spastic paraplegia, intellectual disability, nystagmus, and obesity","Spastic paraplegia-amyotrophy of hands and feet","Spastic paraplegia-intellectual disability-thin corpus callosum syndrome","Spastic paraplegia-nephritis-hearing loss syndrome","Spastic paraplegia-psychomotor retardation-seizures syndrome","Spastic paraplegia-retinal degeneration syndrome","Spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome","spasticity, childhood-onset, with hyperglycinemia","Spasticity-ataxia-gait anomalies syndrome","SPAX1","SPAX2","SPAX3","SPAX4","SPAX5","SPAX6","SPAX7","SPAX8","SPCD","Spear syndrome","Specific anti-polysaccharide antibody deficiency","Specific polysaccharide antibody deficiency","Spectrin-associated autosomal recessive cerebellar ataxia type 1","spEDS","Speech and language disorder with orofacial dyspraxia","Speech-language disorder type 1","SPENCD","SPENCDI","SPG10","SPG12","SPG13","SPG15","SPG17","SPG18","SPG2","SPG20","SPG26","SPG28","SPG30","SPG31","SPG35","SPG39","SPG3A","SPG4","SPG42","SPG43","SPG44","SPG45","SPG46","SPG48","SPG49","SPG53","SPG54","SPG55","SPG56","SPG57","SPG58","SPG59","SPG5A","SPG6","SPG60","SPG61","SPG62","SPG63","SPG64","SPG65","SPG66","SPG67","SPG69","SPG70","SPG71","SPG72","SPG73","SPG74","SPG75","SPG76","SPG77","SPG78","SPG8","SPG9A","SPG9B","spherocytic anaemia","spheroid body myopathy","spherophakia-brachymorphia syndrome","spinal and bulbar muscular atrophy of Kennedy, X-linked recessive","spinal and bulbar muscular atrophy, X-linked type 1","Spinal muscular atrophy with arthrogryposis","Spinal muscular atrophy, Jokela type","spinal muscular atrophy, X-linked 2, infantile, X-linked recessive","spinal muscular atrophy, X-linked type 2","spinocerebellar ataxia 17","spinocerebellar ataxia 29, congenital nonprogressive","spinocerebellar ataxia 3","spinocerebellar ataxia 42","spinocerebellar ataxia 43","spinocerebellar ataxia 43; SCA43","spinocerebellar ataxia 7","Spinocerebellar ataxia and erythrokeratodermia","Spinocerebellar ataxia autosomal recessive type 16","Spinocerebellar ataxia autosomal recessive type 17","Spinocerebellar ataxia autosomal recessive type 23","spinocerebellar ataxia type 1 with axonal neuropathy","spinocerebellar ataxia type 15","spinocerebellar ataxia type 16","spinocerebellar ataxia type 19","spinocerebellar ataxia type 27","Spinocerebellar ataxia with altered vertical eye movements","Spinocerebellar Ataxia with Axonal Neuropathy","spinocerebellar ataxia, autosomal recessive 1","spinocerebellar ataxia, autosomal recessive 21","spinocerebellar ataxia, autosomal recessive 23","spinocerebellar ataxia, autosomal recessive 5","spinocerebellar ataxia, autosomal recessive type 1","spinocerebellar ataxia, autosomal recessive type 10","spinocerebellar ataxia, autosomal recessive type 11","spinocerebellar ataxia, autosomal recessive type 12","spinocerebellar ataxia, autosomal recessive type 14","spinocerebellar ataxia, autosomal recessive type 15","spinocerebellar ataxia, autosomal recessive type 20","spinocerebellar ataxia, autosomal recessive type 21","spinocerebellar ataxia, autosomal recessive type 7","spinocerebellar ataxia, autosomal recessive type 8","spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1","spinocerebellar ataxia, X-linked 1, X-linked recessive","spinocerebellar ataxia, X-linked 5, X-linked recessive","spinocerebellar ataxia, X-linked type 1","spinocerebellar ataxia, X-linked type 3","spinocerebellar ataxia, X-linked type 4","Spinocerebellar ataxia-amyotrophy-deafness syndrome","Spinocerebellar ataxia-amyotrophy-hearing loss syndrome","spirillosis","spitz nevus or nevus spilus, somatic","Spitzer-Weinstein syndrome","Splenomegaly-neutropenia-rheumatoid arthritis syndrome","split cord malformation","Split cord malformation type 1","Split foot deformity-mandibulofacial dysostosis syndrome","Split hand foot malformation","Split hand with obstructive uropathy, spina bifida and diaphragmatic defects","split hand-foot malformation 3","split hand-foot malformation type 3","Split hand-urinary anomalies-spina bifida syndrome","Split hand/foot malformation with long bone deficiency","Split Hand/Split Foot Malformation","Split hand/split foot-mandibular hypoplasia syndrome","Split notochord syndrome","split spinal cord malformation","split-foot malformation with mesoaxial polydactyly","split-hand/foot malformation 3, gene duplication syndrome","Split-hand/foot malformation associated with aplasia of long bones","SPOAN","SPOAN syndrome","Spondylo-humero-femoral dysplasia","spondylocarpotarsal syndrome","spondylocarpotarsal synostosis syndrome","spondylocostal dysostosis, autosomal dominant","spondylocostal dysostosis, autosomal recessive","Spondylodysplastic EDS","Spondyloenchondrodysplasia with immune dysregulation","Spondyloenchondromatosis","spondyloenchondromatosis with D-2-hydroxyglutaric aciduria","Spondyloepimetaphyseal dysplasia type 2","Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type","Spondyloepimetaphyseal dysplasia with joint laxity type 2","Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type","spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type","spondyloepimetaphyseal dysplasia, faden-Alkuraya type","Spondyloepimetaphyseal dysplasia, Sponastrime type","spondyloepimetaphyseal dysplasia, Strudwick type","Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome","spondyloepiphyseal dysplasia with congenital joint dislocations","Spondyloepiphyseal dysplasia, Cantu type","Spondyloepiphyseal Dysplasia, Congenital","spondyloepiphyseal dysplasia, congenital type","Spondyloepiphyseal dysplasia, Nishimura type","spondyloepiphyseal dysplasia, PSEUDOACHONDROPLASTIC","spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency","Spondyloepiphyseal dysplasia-nephrotic syndrome","Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome","spondylometaphyseal dysplasia with combined immunodeficiency","Spondylometaphyseal dysplasia with enchondromatous changes","Spondylometaphyseal dysplasia with severe genu valgum","Spondylometaphyseal dysplasia, Algerian type","spondylometaphyseal dysplasia, Japanese type","Spondylometaphyseal dysplasia, Sutcliffe type","spondyloperipheral dysplasia","spongioblastoma multiforme","spongy degeneration of central nervous system","Spongy degeneration of the brain","Sporadic CJD","Sporadic IBSN","Sporadic inclusion body myositis","Sporadic infantile striatonigral degeneration","Sporadic infantile striatonigral necrosis","SPPRS syndrome","Spranger-Wiedemann disease","Sprengel deformity (disease)","Spring catarrh","Sprinz-Nelson syndrome","SPS","SPTCL","squamous cell car. - esophagus","squamous cell car. - oesophagus","squamous cell carcinoma of esophagus","squamous cell carcinoma of oesophagus","squamous cell carcinoma of the oesophagus","SRD","SREAT","SRPS type 1","SRPS type 3","SRPS1","SRPS2B","SRPS3","SRS","SRTD3","SRXY11","SSA","SSADH deficiency","SSc","SSCM","SSH","SSM syndrome","SSMS","SSPE","SSPS","SSS","Stanescu osteosclerosis","Stapedo-vestibular ankylosis","STAR syndrome","STAR syndrome, X-linked dominant","Stargardt 1","Stargardt disease type 1","static encephalopathy of childhood with neurdegeneration in adulthood","Static encephalopathy of childhood with neurodegeneration in adulthood","Steatocystoma multiplex","Steele-Richardson-Olszewski disease","Steele-Richardson-Olszewski syndrome","steely hair disease","Steinert disease","Steinert myotonic dystrophy syndrome","Steinert syndrome","Steinfeld syndrome","Stern-Lubinsky-Durrie syndrome","Sternum bifidum","Steroid 5-alpha-reductase 2 deficiency","steroid 5-alpha-reductase deficiency","Steroid sulfatase deficiency","Sterol 27-hydroxylase deficiency","Sterol C5-desaturase deficiency","Stickler syndrome type 3","Stickler syndrome, non-ocular type","STICKLER syndrome, type III","Stickler syndrome, type III, formerly","Stiff baby syndrome","Stiff man spectrum disorder","Stiff Person Syndrome","Stiff-man syndrome","Still disease","Stilling-Turk-Duane syndrome","STL3","Stoelinga-de Koomen-Davis syndrome","Stoll-GC)raudel-Chauvin syndrome","Stoll-Géraudel-Chauvin syndrome","Stoll-Kieny-Dott syndrome","stomach NET","stomach neuroendocrine neoplasm","stomach neuroendocrine tumor","stomach neuroendocrine tumor, well differentiated, low or intermediate grade","stomach neuroendocrine tumour","Stomatin-deficient cryohydrocytosis","Stomatocytic elliptocytosis","Stomatodynia","Stomatopyrosis","Stone man syndrome","Storiform-pleomorphic fibrous histiocytoma","Storiform-pleomorphic malignant fibrous histiocytoma","Storiform-pleomorphic MFH","Stormorken syndrome","Stratton-Garcia-Young syndrome","Stratton-Parker syndrome","Streeter dysplasia","Streptobacillosis","Stress cardiomyopathy","Strümpell disease","Stuart-Prower factor deficiency","Sturge-Weber disease","Sturge-Weber syndrome, somatic, mosaic","Sturge-Weber-Dimitri syndrome","Sturge-Weber-Krabbe angiomatosis","Sturge-Weber-Krabbe syndrome","Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome","STWS","Stüve-Wiedemann dysplasia","Stüve-Wiedemann syndrome type 1","Stüve-Wiedemann/Schwartz-Jampel type 2 syndrome","Suarez-Stickler syndrome","Subacute cerebellar degeneration","Subacute inclusion body encephalitis","Subacute inflammatory demyelinating polyradiculoneuropathy","Subacute sclerosing panencephalitis","Subacute sclerosing panencephalitis (disorder) [ambiguous]","Subacute spongiform encephalopathy, Gerstmann-Straussler type","Subcorneal pustular dermatitis","subcortical laminal heterotopia, X-linked","Subcutaneous panniculitic T-cell lymphoma","subcutaneous panniculitis-like T-cell lymphoma (Alpha/Beta type)","subependymal astrocytoma","subependymal glioma","SUBEPENDYMOMA, benign","Subepithelial amyloidosis of the cornea","submesothelial fibroma","Subtelomeric 1p36 deletion","Subtelomeric deletion 13q34","Subtotal absence of cerebellum","Succinyl-CoA acetoacetate transferase deficiency","Succinyl-CoA:3-ketoacid CoA transferase deficiency","sucrase-isomaltase deficiency","Sudanophilic leukodystrophy, Paelizeus-Merzbacher type","sudden unexplained nocturnal death syndrome","Sudeck's atrophy","Sujansky-Leonard syndrome","sulfatidosis, juvenile, Austin type","sulfoiduronate sulfatase deficiency","Summerskill-Walshe-Tygstrup syndrome","SUNCT headache","superficial fibromatosis of plantar part of pes","Superficial hemosiderosis of the central nervous system","Superficial hemosiderosis of the CNS","Superficial siderosis of the central nervous system","Superficial siderosis of the CNS","Supernumerary der(22) syndrome","supernumerary naris","supernumerary ring/marker 8","Superoinferior ventricles","Suppurative myositis","supravalvar aortic stenosis","supravalvular aortic stenosis (disease)","surfactant metabolism dysfunction, pulmonary, 1","surfactant metabolism dysfunction, pulmonary, type 1","Sutherland-Haan X-linked intellectual disability syndrome","Sutherland-Haan X-linked mental retardation syndrome","SVA","SVAS","SWILS","SWNV","SWS","Swyer syndrome","sylvatic yellow fever","symbrachydactyly of the hand and foot","symmelia","Symmetric parietal foramina","Sympathetic uveitis","Symphalangism, Cushing type","Symphalangism-brachydactyly syndrome","Symptomatic form of classic hemochromatosis","Symptomatic form of hemochromatosis type 1","Syndactyly of fingers 4 and 5","Syndactyly type 7","Syndactyly type 9","Syndactyly, Malik-Percin type","Syndactyly-ectodermal dysplasia-cleft/lip palate","Syndactyly-preaxial polydactyly-sternal deformity syndrome","syndrome (TSS), toxic shock","syndrome associated with recessive X-linked ichthyosis","syndrome of agenesis of abdominal muscles","syndrome of apparent mineralocorticoid Excess","Syndrome of ocular and facial anomalies, telecanthus and deafness","Syndrome of ocular and facial anomalies, telecanthus and hearing loss","Syndrome r(4)","syndrome, Churg-Strauss","syndrome, Fisher","syndrome, Miller Fisher","syndrome, Sjogren's","Syndromic diarrhea","Syndromic diarrhea/Tricho-hepato-enteric syndrome","syndromic diarrhoea","Syndromic microphthalmia type 10","Syndromic microphthalmia type 3","Syndromic microphthalmia type 4","Syndromic microphthalmia type 6","Syndromic microphthalmia type 7","Syndromic microphthalmia type 8","Syndromic RXLI","syndromic X-linked ichthyosis","syndromic X-linked intellectual disability 18","syndromic X-linked intellectual disability 20","syndromic X-linked intellectual disability 21","syndromic X-linked intellectual disability 25","syndromic X-linked intellectual disability 8","syndromic X-linked intellectual disability Armfield type","syndromic X-linked intellectual disability Arts type","syndromic X-linked intellectual disability Borjeson-Forssman-Lehmann type","syndromic X-linked intellectual disability Cabezas type","syndromic X-linked intellectual disability Claes-Jensen type","syndromic X-linked intellectual disability fried type","syndromic X-linked intellectual disability JARID1C-related","syndromic X-linked intellectual disability Lubs type","syndromic X-linked intellectual disability Mircsof-Langouet type","syndromic X-linked intellectual disability Najm type","syndromic X-linked intellectual disability Nascimento type","syndromic X-linked intellectual disability Siderius type","syndromic X-linked intellectual disability Snyder type","Syndromic X-linked intellectual disability type 11","syndromic X-linked intellectual disability type 12","syndromic X-linked intellectual disability type 17","syndromic X-linked intellectual disability type 34","syndromic X-linked intellectual disability type 5","syndromic X-linked intellectual disability type 7","synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome","Synovitis-acne-pustulosis-hyperostosis-osteitis syndrome","Synpolydactyly","Synspondylism","Syringadenoma","Syringadenoma papilliferum","SYS","systemic lupus erythematosus (disease)","systemic lupus erythematosus susceptibility to","systemic mastocytosis with an associated haematological neoplasm","systemic mastocytosis with an associated haematological neoplasm (SM-AHN)","systemic mastocytosis with an associated hematological neoplasm","systemic mastocytosis with an associated hematological neoplasm (SM-AHN)","systemic polyarthritis","systemic primary carnitine deficiency disease","Systemic scleroderma","Systemic-onset JIA","Sézary lymphoma","T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta","T-B+ SCID due to gamma chain deficiency","T-B+ SCID due to IL-7Ralpha deficiency","T-B+ severe combined immunodeficiency due to gamma chain deficiency","T-B+ severe combined immunodeficiency, X-linked","T-B+K- severe combined immunodeficiency, X-linked","T-B+NK+ SCID due to CD3delta/CD3epsilon/CD3zeta deficiency","T-B+NK+ SCID due to IL-7Ralpha deficiency","T-B+NK- SCID due to gamma chain deficiency","T-B-NK+ severe combined immunodeficiency due to ARTEMIS deficiency","T-B-NK+ severe combined immunodeficiency, Athabascan type","T-B-NK+ severe combined immunodeficiency, Athabaskan type","T-B-NK- SCID due to adenosine deaminase deficiency","T-cell immunodeficiency, congenital alopecia, and nail dystrophy","T-lymphocyte deficiency","T1P","T2 deficiency","Tabatznik syndrome","TAC","Takao syndrome","Takatsuki syndrome","Takayasu's disease","Tako-Tsubo syndrome","Takotsubo cardiomyopathy","Takotsubo syndrome","TALDO deficiency","Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome","tall stature-intellectual disability-facial dysmorphism syndrome","Tapetochoroidal dystrophy","tapeworm infection: [intestinal taenia solium] or [pork]","tapeworm infection: intestinal taenia solum","tapeworm infection: pork","TAPVR","TAR syndrome","tardive tibial muscular dystrophy","TARP syndrome, X-linked recessive","Tarui disease","Tatton-Brown-Rahman overgrowth syndrome","Tattoo dysplasia","Taybi syndrome","Taybi-Linder syndrome","TBCD","TBE","TBS","TCP","TD","TDH2B","TDO","TDO syndrome","Teebi hypertelorism syndrome","Teebi-Al Saleh-Hassoon syndrome","Teebi-Kaurah syndrome","Teebi-Naguib-Alawadi syndrome","telangiectasia, hereditary Hemorrahagic, of Rendu, Osler","telangiectasia, hereditary hemorrhagic","Telfer-Sugar-Jaeger syndrome","Telomeric 15q deletion syndrome","Telomeric deletion 10q","Telomeric deletion 11q","Telomeric deletion 12q","Telomeric deletion 13q","Telomeric deletion 17p","Telomeric deletion 17q","Telomeric deletion 19p","Telomeric deletion 1q","Telomeric deletion 4p","Telomeric deletion 5q","Telomeric deletion 7q36","Telomeric deletion 9p","telomeric deletion13q","Telomeric duplication 14q","Telomeric duplication 17q","Telomeric duplication 18q","Telomeric duplication 5q","Telomeric duplication 6p","telomeric duplication Xq","Telomeric monosomy 3p","TEMF","Temporal arteritis","temporal artery inflammation","temporal-central focal epilepsy","Temtamy type brachydactyly","Temtamy-Shalash syndrome","TEN","tenosynovial giant cell tumor, diffuse type","Ter Haar syndrome","terminal chromosome 10q26 deletion syndrome","terminal osseous dysplasia, X-linked dominant","Terry syndrome","Testotoxicosis","testotoxicosis, familial","Tetra X","tetraphocomelia-cleft palate syndrome","tetraploidy","Tetrasomy 11q24.1","tetrasomy 16p12.1-p12.3","Tetrasomy 16p12.1p12.3","tetrasomy 18p","tetrasomy type 12p","tetrasomy type 18P","tetrasomy type 21","tetrasomy type 5p","tetrasomy type 9p","tetrasomy type X","TFP deficiency","TFPD","TGCT","TH-SHFM","thalassemia-beta, dominant inclusion-body","thalidomide embryopathy syndrome","thalidomide-induced birth defect","thanatophoric dwarfism","Thauvin-Robinet-Faivre syndrome","THCYT","thiamine metabolism dysfunction syndrome 1","thiamine-responsive anemia syndrome","thiamine-responsive myelodysplasia","Thies-Reis syndrome","THMA1","THMD1","Thomas-Jewett-Raines syndrome","Thompson-Baraitser syndrome","Thong-Douglas-Ferrante syndrome","Thoracic outlet compression syndrome","thoracic pelvic phalangeal dystrophy","Thoraco-abdominal syndrome","Thoracolimb dysplasia, Rivera type","Three M Syndrome","Thromboangiitis obliterans","thromboangiitis obliterans [Buerger's disease]","Thrombocytopathy-asplenia-miosis syndrome","thrombocytopenia with beta-thalassemia, X-linked, X-linked recessive","thrombocytopenia, Paris-Trousseau type, Isolated cases","Thrombocytopenia-anasarca-fever-renal insufficiency-organomegaly syndrome","thrombocytopenic purpura, autoimmune","thrombophilia 7 due to antithrombin III deficiency","thrombophilia due to antithrombin 3 deficiency","thrombophilia due to antithrombin III deficiency","thumb deformity and alopecia","Thurston syndrome","thymic carcinoma (excluding well differentiated thymic carcinoma)","Thymidine kinase 2 deficiency","thymine-uracilurea","thymoma (disease)","thymoma type C","thymoma, malignant","thymoma, malignant (morphologic abnormality)","thymoma, type C (morphologic abnormality)","thymoma-immunodeficiency","thymoma-immunodeficiency syndrome","thymus carcinoma","thymus NET","thymus neuroendocrine neoplasm","thymus neuroendocrine tumor","thymus neuroendocrine tumor, well differentiated, low or intermediate grade","thymus neuroendocrine tumour","thyrocerebroretinal syndrome","thyroid carcinoma, familial medullary","Thyroid dyshormonogenesis","thyroid dyshormonogenesis 2B","thyroid gland carcinosarcoma","thyroid gland lymphoma","thyroid gland medullary cancer","thyroid gland medullary carcinoma","thyroid gland neuroendocrine carcinoma","thyroid gland undifferentiated (anaplastic) carcinoma","thyroid gland undifferentiated carcinoma","thyroid hormonogenesis, genetic defect in, 2B","thyroid medullary carcinoma","thyroid stimulating hormone producing adenoma of pituitary","thyroid stimulating hormone producing adenoma of pituitary gland","thyroid stimulating hormone producing adenoma of the pituitary","thyroid stimulating hormone producing adenoma of the pituitary gland","thyroid stimulating hormone producing pituitary adenoma","thyroid stimulating hormone producing pituitary gland adenoma","thyroid stimulating hormone secreting adenoma of pituitary","thyroid stimulating hormone secreting adenoma of pituitary gland","thyroid stimulating hormone secreting adenoma of the pituitary","thyroid stimulating hormone secreting adenoma of the pituitary gland","thyroid stimulating hormone secreting pituitary gland adenoma","thyroid stimulating hormone-producing adenoma","Thyroid stimulating hormone-secreting pituitary adenoma","Thyroid-renal-digital anomalies","Thyrotoxic hypokalemic periodic paralysis","thyrotrope adenoma","Thyrotroph adenoma","thyrotrophic adenoma","thyrotropin producing pituitary gland adenoma","thyrotropinoma","Tibia vara Blount","tibia, hypoplasia or aplasia of, with polydactyly","tibial hemimelia","Tibial hemimelia with split hand/foot malformation","Tibial hemimelia-ectrodactyly syndrome","tibial longitudinal meromelia","tick typhus due to rickettsia conorii","Tick-borne viral encephalitis","Tietz albinism-deafness syndrome","TINU syndrome","TIO","TK2 deficiency","TK2d","TMAU","TMBTS","TMD","TNDM","TNF receptor 1-associated periodic fever syndrome","TNF receptor 1-associated periodic syndrome","TNF receptor-associated periodic syndrome","TOKIMS","Tokita-Kim syndrome","Tomaculous neuropathy","tonic pupil","Tonic pupil-tendon areflexia syndrome","Tonoki-Ohura-Niikawa syndrome","tooth agenesis, selective","Tooth and nail syndrome","Toriello Lacassie Droste syndrome","Toriello syndrome","torsion dystonia type 1","torsion dystonia type 13","torsion dystonia type 17","torsion dystonia type 2","torsion dystonia type 4","torsion dystonia type 6","torulosis","TOS","Tosti syndrome","total anomalous pulmonary venous return","Total color blindness","total colour blindness","total lipodystrophy","Touraine-Solente-Gole syndrome","Townes syndrome","toxic effect of venom of scorpion","toxic epidermolysis","Toxic pustuloderma","toxic shock syndrome","toxic shock syndrome, (TSS)","Toxopachyosteose diaphysaire tibio-peroniere","Toxoplasma embryofetopathy","Toxoplasma embryopathy","toxoplasmosis, congenital","TPPII deficiency","trabecular cancer","trabecular skin carcinoma","tracheal absence","Tracheal atresia","tracheal cleft","tracheo-esophageal fistula","Tracheobronchomegaly","tracheoesophageal fistula","tracheomalacia, congenital","Tracheopathia osteoplastica","Tranebjaerg-Svejgaard syndrome","Transgrediens et progrediens PPK","Transient bullous dermolysis of the newborn","transient bullous of the newborn","Transient left ventricular apical ballooning syndrome","Transient reactive papulotranslucent acrokeratoderma","Transposition of the great vessels","TRAPS","TRAPS syndrome","Trevor disease","TRH resistance syndrome","Triad syndrome","TRIANGLE disease","Triangular tibia-fibular aplasia syndrome","Trichinella caused disease or disorder","Trichinella disease or disorder","Trichinella infectious disease","Trichinosis","Tricho-hepato-enteric syndrome","TRICHODENTOOSSEOUS syndrome","Trichodysplasia-abnormal dermatoglyphics-intellectual disability syndrome","Trichohepatoenteric syndrome type 1","Trichopoliodystrophy","trichothiodystrophy syndrome","tricuspid atresia (disease)","tricuspid valve atresia","trigeminal nerve neuralgia","Trigonocephaly C syndrome","Triophthalmia","Triopia","triosephosphate isomerase deficiency","Trip(16)(p12.1p12.3)","tripeptidyl-peptidase II deficiency","Triple H syndrome","triple X syndrome","Triplo-X syndrome","Trisomy 1 mosaicism","Trisomy 10q22.3q23.3","Trisomy 11p15.4","Trisomy 12 mosaicism","trisomy 13","Trisomy 14 mosaicism","Trisomy 14q11.2","Trisomy 14qter","Trisomy 15 mosaicism","trisomy 15q11-q13","Trisomy 15q11q13","Trisomy 16 mosaicism","Trisomy 16p11.2p12.2","Trisomy 16p13.11","Trisomy 17 mosaicism","Trisomy 17p11.2","Trisomy 17p11.2-p12","Trisomy 17p11.2p12","Trisomy 17p13.3","Trisomy 17q11.2","Trisomy 17q12","Trisomy 17q21.31","Trisomy 17qter","trisomy 18","Trisomy 18qter","Trisomy 1q21.1","Trisomy 2 mosaicism","Trisomy 20 mosaicism","trisomy 20p","Trisomy 21","trisomy 21 (Down syndrome)","Trisomy 22q11.2","Trisomy 2q23.1","Trisomy 3 mosaicism","Trisomy 3q29","Trisomy 5q35","Trisomy 5qter","Trisomy 6pter","Trisomy 7 mosaicism","Trisomy 7p22.1","Trisomy 7q11.23","Trisomy 8 mosaicism","Trisomy 8p23.1","Trisomy 8q12","Trisomy 9 mosaicism","Trisomy of the short arm of chromosome 18","Trisomy of the short arm of chromosome 4","Trisomy of the short arm of chromosome 5","Trisomy of the short arm of chromosome 9","trisomy type 10p","trisomy type 12p","trisomy type 13","trisomy type 17p","trisomy type 18","trisomy type 18p","trisomy type 1q","trisomy type 20p","trisomy type 4p","trisomy type 5p","trisomy type 8p","trisomy type 8q","trisomy type 9p","trisomy type X","trisomy X","Trisomy Xp11.22p11.23","Trisomy Xq27.3-q28","Trisomy Xq27.3q28","tritan color blindness","Tritan colour blindness","tritan defect","TRMA","tRNA-LYS-related cardiomyopathy-hearing loss syndrome","TROFAS","Tropheryma whipplei caused disease or disorder","Tropheryma whipplei disease or disorder","Tropheryma whipplei infectious disease","Tropical calcific chronic pancreatitis","Tropical pyomyositis","Troyer syndrome","TRS","True congenital pancreatic cyst","Truncus arteriosus","Truncus arteriosus communis","Trypanosoma cruzi caused disease or disorder","Trypanosoma cruzi disease or disorder","Trypanosoma cruzi infectious disease","Tsao-Ellingson syndrome","TSC","TSGCT","TSH producing adenoma of pituitary","TSH producing adenoma of pituitary gland","TSH producing adenoma of the pituitary","TSH producing adenoma of the pituitary gland","TSH producing pituitary adenoma","TSH producing pituitary gland adenoma","TSH resistance","TSH secreting adenoma of pituitary","TSH secreting adenoma of pituitary gland","TSH secreting adenoma of the pituitary","TSH secreting adenoma of the pituitary gland","TSH secreting pituitary gland adenoma","TSH-oma","TSH-producing adenoma","TSHoma","TSS","TSS, toxic shock syndrome","Tsukahara syndrome","tsutsugamushi","Tsutsugamushi disease","Tsutsugamushi fever","TTP","Tuberous sclerosis","tuberous sclerosis syndrome","Tubulointerstitial nephritis and uveitis","Tucker syndrome","tufted angioma (disease)","tufted angioma of skin","tufted angioma of the skin","tufted hemangioma","tufted hemangioma of skin","tufted hemangioma of the skin","tufted skin angioma","tufting enteropathy","Tulip-bulb digger's palsy","Tumor Necrosis Factor Receptor-Associated Periodic Syndrome","tumor of Delta cells","tumor of Rathke's pouch","tumor of the Delta cells","Tumor-induced osteomalacia","tumour necrosis factor receptor 1 associated periodic syndrome","tumour necrosis factor receptor-associated periodic syndrome","tumour of Delta cells","tumour of Rathke's pouch","tumour of the Delta cells","Tungland-Bellman syndrome","Turner-Kieser syndrome","twenty-nail dystrophy","Twisted atrioventricular connections","Twisted hair","Tylosis-oesophageal carcinoma syndrome","Type 1 condylar hyperplasia","type 1 plasminogen deficiency","Type 1 syndactyly-microcephaly-intellectual disability syndrome","Type 2 galactosemia","Type 2 renal tubular acidosis","Type 2 RTA","Type 3 galactosemia","Type 4 galactosemia","type A insulin resistance syndrome","type B Niemann-Pick disease","type C thymoma","type I Acrocephalosyndactyly","type I short rib polydactyly syndrome","type I tyrosinemia","type II achondrogenesis","type II Acrocephalopolysyndactyly","Type II galactosemia","type III Acrocephalosyndactyly","Type III galactosemia","Type IV galactosemia","type V Acrocephalosyndactyly","Typhoid fever","Typhoidal salmonellosis","Typus Edinburgensis","Tyrosine hydroxylase deficiency","Tyrosine hydroxylase-deficient dopa-responsive dystonia","Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency","Tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency","Tyrosinemia due to tyrosine aminotransferase deficiency","Tyrosinemia type I","Tyrosinemia type II","Tyrosinemia type III","UAPA","UCMD","UCTD","Udd myopathy","UDP-galactose-4-epimerase deficiency","UGT deficiency","ULD","Ulick syndrome","Ullrich scleroatonic muscular dystrophy","ulna metaphyseal dysplasia syndrome","ulnar clubhand","Ulnar hypoplasia-lobster-claw deformity of feet syndrome","ulnar longitudinal meromelia","UMS","unclassified pleomorphic sarcoma","Undetermined early-onset epileptic encephalopathy","Undetermined EOEE","undifferentiated (anaplastic) thyroid gland cancer","undifferentiated (anaplastic) thyroid gland carcinoma","undifferentiated carcinoma of the thyroid","undifferentiated carcinoma of the thyroid gland","undifferentiated carcinoma of thyroid","undifferentiated carcinoma of thyroid gland","undifferentiated connective tissue disease","undifferentiated pleomorphic soft tissue sarcoma","undifferentiated thyroid carcinoma","undifferentiated thyroid gland carcinoma","undifferentiated thyroid tumor","undifferentiated thyroid tumour","undulant fever","Uner Tan syndrome","unicameral bone cyst","Unilateral diplophthalmia","Unilateral diplophthalmos","Unilateral megalencephaly","unilateral or bilateral and asymmetric otomandibular dysplasia","Unilateral Pulmonary Artery Absence","Unilateral pulmonary artery agenesis","Unverricht-Lundborg disease","Unverricht-Lundborg syndrome","UP/MPCM","UPD(1)mat","UPD(1)pat","UPD(2)mat","UPD(20)mat","UPD(4)mat","UPD(5)pat","UPD(6)mat","UPD(6)pat","UPD(9)mat","UPD(X)mat","UPD(X)pat","upper limb mesomelic dysplasia","UPS","urachal cyst (disease)","Urbach-Wiethe disease","Urban-Schosser-Spohn syndrome","Urethral atresia","Uridine diphosphate galactose-4-epimerase deficiency","Uridine monophosphate synthetase deficiency","urinary bladder small cell carcinoma","Urioste syndrome","urocanic aciduria (disease)","urorectal septum malformation sequence","Urticaria pigmentosa","urticaria pigmentosa/maculopapular cutaneous mastocytosis","USH","Uteroplacental vascular insufficiency","UTS","Uveomenigitic syndrome","uveomeningoencephalitic syndrome","Uvular cleft","VACTERL association","Vacuolar aggregate myopathy","Vacuolating megalencephalic leukoencephalopathy with subcortical cysts","Valine metabolic defect","Valley fever","Valproic acid embryopathy","valvular heart disease, congenital","Van Asperen syndrome","Van Benthem-Driessen-Hanveld syndrome","Van Bogaert disease","Van Bogaert encephalitis","Van Buchem disease","van Buchem disease type 1","Van den Berghe-Dequecker syndrome","Van der Knaap syndrome","Van Esch-O'Driscoll syndrome","Van Esch-O'Driscoll syndrome, X-linked recessive","Van Maldergem syndrome","Vanishing bone disease","Vanishing testes syndrome","Vanishing testis syndrome","Vaquez disease","Vascular EDS","vasculitides, eosinophilic granulomatous","vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome","vasculitis, Churg Strauss","vasculitis, eosinophilic granulomatous","Vasculitis-autoinflammation-immunodeficiency- hematologic defects syndrome","vasoactive intestinal peptide producing neoplasm","vasoactive intestinal peptide producing tumor","vasoactive intestinal peptide producing tumour","vasoactive intestinal peptide secreting neoplasm","vasoactive intestinal peptide-secreting tumour","VATER association","VCPDM","VDDI","VDDR II","VDDR-I","VDDR1","VDDR2","VDEGS","VDRR II","vEDS","Vein of Galen arteriovenous malformation","vein of Galen arteriovenous malformations","Velocardiofacial syndrome","venereal arthritis","Venous malformations with glomus cells","ventricular arrhythmia associated with short QT syndrome","Ventricular fibrillation, Brugada type","ventricular inversion","Ventricular septal defect with aortic insufficiency","ventricular tachycardia, catecholaminergic polymorphic","ventriculoarterial and atrioventricular discordance","ventriculoarterial discordance with atrioventricular concordance","VEODS","VEOS","Verheij syndrome","Verloes-David syndrome","Verloes-Gillerot-Fryns syndrome","Verma-Naumoff syndrome","Vernal Keratonconjunctivitis","Verner-Morrison syndrome","Verrucous haemangioma","Verrucous hemangioma","verrucous keratotic hemangioma","verrucous keratotic hemangioma (morphologic abnormality)","vertebral fusion with carpal coalition","vertebral ossification, defect in, with nephrogenic rests","Very early-onset schizophrenia","Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD)","very long-chain acyl-Coenzyme A dehydrogenase deficiency","Vesicourachal diverticulum","Vibrio cholerae caused disease or disorder","Vibrio cholerae disease or disorder","Vibrio cholerae infectious disease","Viljoen-Kallis-Voges syndrome","Viljoen-Smart syndrome","VIP producing neoplasm","VIP- secreting neoplasm","VIP- secreting tumour","VIP-producing NET","VIP-producing neuroendocrine tumor","VIP-producing neuroendocrine tumour","VIP-secreting tumor","Visceral myopathy-familial external ophthalmoplegia syndrome","visual pathway glioma","Vitamin B12-responsive methylmalonic aciduria","Vitamin B12-unresponsive methylmalonic aciduria","Vitamin B6-dependent seizures","vitamin D 1 Alpha-Hydroxylase deficiency","vitamin D dependent rickets 2","Vitamin D dependent rickets type I","vitamin D receptor deficiency","Vitamin D-dependency type I","vitamin D-dependent rickets type 1","Vitamin D-dependent rickets type II","vitamin D-dependent rickets, type 2","Vitamin D-resistant rickets type II","vitamin D-resistant rickets, X-linked","Vitamin K antagonist embryopathy","vitamin K-dependent clotting factors, combined deficiency of","Vitelliform macular dystrophy type 2","vitelliform macular dystrophy, early-onset","vitelliform macular dystrophy, juvenile-onset","Vitiliginous choroiditis","Vitreoretinal degeneration, Wagner type","VLCAD","VLCAD deficiency","VLCADD","VMGLOM","VODI syndrome","VOGM","Vogt-Koyanagi syndrome","Vohwinkel syndrome","Vohwinkel syndrome with ichthyosis","Volubilis syndrome","Von Economo encephalitis","von Economo's disease","Von Gierke disease","Von Hippel-Lindau syndrome","von Hippel-Lindau syndrome, modifier of","Von Recklinghausen disease","VOWNKL","VSD with aortic insufficiency","VWS","Västerbotten dystrophy","Waaler-Aarskog syndrome","Waardenburg anophthalmia syndrome","Waardenburg syndrome type 4","Waardenburg syndrome type IV","Waardenburg-Hirschsprung syndrome","Waardenburg-Jonker corneal dystrophy","Wagner syndrome","WAGR 11p13 deletion syndrome","WAGR Syndrome/11p Deletion Syndrome","wAHA","wAIHA","Waisman syndrome","Waisman syndrome, X-linked recessive","Waldmann disease","Walker-Dyson syndrome","Walker-Warburg muscular dystrophy","Wallis-Zieff-Goldblatt syndrome","WARBM","Warburg micro syndrome","Warburg-Thomsen syndrome","Warburton-Anyane-Yeboa syndrome","Ward-Romano syndrome","Warfarin embryofetopathy","Warfarin embryopathy","Warkany syndrome","Warm AIHA","Warm Autoimmune Hemolytic Anemia","Warts-hypogammaglobulinemia-infections-myelokathexis syndrome","Warts-infections-leukopenia-myelokatexis syndrome","Water-West syndrome","Watery diarrhea-hypokalemia-achlorhydria syndrome","WCD","WDHA syndrome","WDM","Weary syndrome","Weber-Christian disease","Weber-Christian panniculitis","Weber-Klippel-Trenaunay","Webster-Deming syndrome","Wegener granulomatosis","Wegener's syndrome","Weill-Marchesani syndrome 2","Weill-Marchesani syndrome type 2","Weill-Marchesani syndrome, autosomal dominant","Weismann-Netter-Stuhl syndrome","Weissenbacher-Zweymuller syndrome","well differentiated peritoneal mucinous adenocarcinoma","Wellesley-Carman-French syndrome","Wells-Jankovic syndrome","Wermer syndrome","Werner mesomelic spectrum","Werner-like syndrome due to combined growth factor deficiency","West syndrome","Westerhof-Beemer-Cormane syndrome","Westphal-Strumpell syndrome","Westphall disease","Weyers acrodental dysostosis","Weyers acrofacial dysostosis","whispering dysphonia","Whistling face syndrome","whistling face-windmill vane hand syndrome","Whitaker syndrom","WHO grade I ependymal neoplasm","WHO grade I ependymal tumor","WHO grade I ependymal tumour","WHO grade IV glioma","WHSUS","Whyte-Murphy syndrome","Wieacker syndrome","Wieacker-Wolff syndrome, X-linked","Wieacker-Wolff syndrome, X-linked recessive","Wiedemann's syndrome","Wiedemann-Beckwith syndrome","Wild type ABeta2-microglobulinic amyloidosis","Wild type ATTR-related amyloidosis","Willi-Prader syndrome","Williams-Beuren syndrome","Williams-Beuren syndrome (WBS)","WILM","Wilms tumor","Wilms tumor and pseudohermaphroditism","Wilms tumor of the kidney","Wilms tumor, aniridia, genitourinary anomalies and developmental delay syndrome","Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome","Wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome","Wilms tumor-disorder of sex development syndrome","Wilms tumor-DSD syndrome","Wilms tumour and pseudohermaphroditism","Wilms tumour of the kidney","Wilson-Turner syndrome, X-linked recessive","windmill-vane-hand syndrome","Winged helix deficiency","Winship-Viljoen-Leary syndrome","Wiskott-Aldrich syndrome 1","Wiskott-Aldrich syndrome, X-linked recessive","Wissler-Fanconi syndrome","Witkop syndrome","WITKOS","Wittwer syndrome","WL syndrome","WMS2","WNS","Wolf-Hirschhorn syndrome, Isolated cases","Wolff-Zimmermann syndrome","Woods-Black-Norbury syndrome, X-linked dominant","Woolf's syndrome","Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome","Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome","Wooly hair","Wooly hair nevus","Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome","Wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome","Worth syndrome","WRS","WRWF","WRWFXLR","WS","WS4","WS4 plus","WTS","Wunderlich syndrome","WWS","WZS","X linked polyendocrinopathy","X-ALD","X-LAG","X-linked AHC","X-linked ALD","X-linked Angelman-like syndrome","X-linked ataxia-deafness syndrome","X-linked ataxia-dementia syndrome","X-linked ataxia-hearing loss syndrome","X-linked autoimmunity-allergic dysregulation syndrome","X-linked branchial arch syndrome","X-linked BSMA","X-linked bulbospinal amyotrophy","X-linked bulbospinal muscular atrophy","X-linked cardioskeletal myopathy and neutropenia","X-linked chondrodysplasia punctata 1","X-linked chondrodysplasia punctata caused by mutation in ARSE","X-linked chondrodysplasia punctata type 2","X-linked congenital adrenal hypoplasia","X-linked congenital dyserythropoietic anaemia with thrombocytopenia","X-linked congenital dyserythropoietic anemia with thrombocytopenia","X-linked copper deficiency","X-linked deafness-intellectual disability syndrome","X-linked deafness-intellectual disability syndrome syndrome","X-linked distal arthrogryposis multiplex congenita","X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome","X-linked dominant hypophosphatemic rickets","X-linked dysplasia gigantism syndrome","X-linked EDS","X-linked hearing loss-intellectual disability syndrome","X-linked hereditary hypophosphatemic rickets","X-linked hydrocephalus-cerebellar agenesis-intellectual disability syndrome","X-linked hyperuricemia","X-linked hyperuricemia (disorder) [ambiguous]","X-linked hypophosphatemic rickets","X-linked ichthyosis","X-linked immunoneurological disorder","X-linked incomplete achromatopsia","X-linked intellectual developmental disorder-98","X-linked intellectual disability 59","X-linked intellectual disability 79","X-linked intellectual disability syndrome, Lubs type","X-linked intellectual disability with alacrima and achalasia","X-linked intellectual disability with epilepsy","X-linked intellectual disability with marfanoid habitus","X-linked intellectual disability with short stature","X-linked intellectual disability with spastic diplegia","X-linked intellectual disability with spasticity","X-linked intellectual disability, Ahmad type","X-linked intellectual disability, Atkin type","X-linked intellectual disability, Kroes type","X-linked intellectual disability, Miles-Carpenter type","X-linked intellectual disability, Renpenning type","X-linked intellectual disability-98","X-linked intellectual disability-dystonia-dysarthria syndrome","X-linked intellectual disability-gynecomastia-obesity syndrome","X-linked intellectual disability-hypotonia syndrome","X-linked intellectual disability-microcephaly-testicular failure syndrome","X-linked intellectual disability-nail dystrophy-seizures syndrome","X-linked juvenile retinoschisis","X-linked juvenile retinoschisis type 1","X-linked lissencephaly type 1","X-linked lissencephaly with ambiguous genitalia","X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome","X-linked lymphoproliferative syndrome type 2","X-linked mandibulofacial dysostosis with limb anomalies","X-linked myotubular myopathy","X-linked Ohdo syndrome","X-linked recessive hypercalciuric hypophosphatemic rickets","X-linked recessive hypophosphatemic rickets","X-linked recessive ichthyosis","X-linked recessive nephrolithiasis","X-linked severe combined immunodeficiency","X-linked sideroblastic anaemia with spinocerebellar ataxia","X-linked sideroblastic anemia with ataxia","X-linked sideroblastic anemia with spinocerebellar ataxia","X-linked spastic paraplegia type 2","X-linked spinal and bulbar muscular atrophy","X-linked spinal muscular atrophy type 2","X-linked spinocerebellar ataxia type 5","X-linked thrombocytopenia with Beta-thalassemia","Xanthic urolithiasis","Xanthine stone disease","Xanthous oculocutaneous albinism","Xanthurenic aciduria","XDAT","XDP","XECD","xeroderma of Kaposi","xeroderma pigmentosum syndrome","xeroderma pigmentosum variant type","xeroderma pigmentosum with normal DNA repair rates","Xia-Gibbs syndrome","XK syndrome","XK-aprosencephaly","XLAAD","XLAG (X-linked lissencephaly with abnormal genitalia) syndrome","XLCNM","XLG","XLH","XLI","XLID98","XLMTM","XLOA","XLP2","XLRS","XLSA","XLSA-A","XLTT","XMVD","XP","XP/CS complex","Xp11.22-p11.23 Microduplication","Xp21 contiguous gene deletion syndrome","Xp21 microdeletion syndrome","XPDS","XPID","XPV","Xq21 deletion syndrome, X-linked recessive","Xq25 duplication syndrome","Xq25 microtriplication","Xq27.3-q28 microduplication syndrome","Xq28 contiguous gene deletion syndrome","Xq28 Microduplication","XSCID","XX female gonadal dysgenesis","XX gonadal dysgenesis-deafness syndrome","XX gonadal dysgenesis-hearing loss syndrome","XX gonodal dysgenesis-deafness syndrome","XX, male syndrome","XX-GD","XXX syndrome","XXXXX syndrome","XY gonadal agenesis syndrome","XY sex reversal-adrenal failure","XY sex reversal-adrenal failure syndrome","XY/X0","Xylitol dehydrogenase deficiency","XYLT18-CDG","XYY karyotype","XYY syndrome","Y disomy","Y. pestis infection","Yakut short stature syndrome","Yellow fever virus caused disease or disorder","Yellow fever virus disease or disorder","Yellow fever Virus infection","Yellow fever virus infectious disease","Yellow Jack","Yellow nail syndrome","Yemenite deaf-blind hypopigmentation syndrome","Yersinia pestis infection","YF","YNS","YOPD","Yorifuji-Okuno syndrome","Yoshimura-Takeshita syndrome","You-Hoover-Fong syndrome","Young-Hughes syndrome","Yuan-Harel-Lupski syndrome","YUHAL","Zambian hemorrhagic fever","ZASP-related myofibrillar myopathy","Zellweger spectrum disorders","Zellweger-like contiguous gene deletion syndrome","Zeta-associated-protein 70 deficiency","Zhu-Tokita-Takenouchi-Kim syndrome","Zika","Zika virus caused disease or disorder","Zika virus disease or disorder","Zika virus infection","Zika virus infectious disease","ZikV infection","Zimmer phocomelia","Zimmerman Laband syndrome","Zimmermann-Laband syndrome type 1","Zinsser-Engman-Cole syndrome","Ziprkowski–Margolis syndrome","Zlotogora-Ogur syndrome","ZLS","Zollinger-Ellison syndrome (disease)","Zori-Stalker-Williams syndrome","ZS","Zunich-Kaye syndrome","ZWS","Zygomycota infectious 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and spellings are selected, merged across sources and in places renamed to make one searchable list. 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