recup.csv

"48,XXYY syndrome";21
"Ataxia-telangiectasia";6310
"Ocular albinism with late-onset sensorineural deafness";0
"Reticular perineurioma";8
"Sclerosing perineurioma";29
"Extraneural perineurioma";10
"Intraneural perineurioma";50
"ABeta amyloidosis, Dutch type";0
"ACys amyloidosis";0
"Lissencephaly with cerebellar hypoplasia type A";0
"Lissencephaly with cerebellar hypoplasia type B";0
"Lissencephaly with cerebellar hypoplasia type C";0
"Lissencephaly with cerebellar hypoplasia type D";0
"Lissencephaly with cerebellar hypoplasia type E";0
"Lissencephaly with cerebellar hypoplasia type F";0
"Refractory anemia with excess blasts type 1";0
"Refractory anemia with excess blasts type 2";0
"Primary plasmacytoma of the bone";0
"Extramedullary soft tissue plasmacytoma";2
"Mu-heavy chain disease";23
"Alpha-heavy chain disease";62
"Gamma-heavy chain disease";71
"Hypoplastic amelogenesis imperfecta";42
"Hypocalcified amelogenesis imperfecta";20
"Hypomaturation amelogenesis imperfecta";19
"Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism";0
"Solitary necrotic nodule of the liver";23
"Familial pseudohyperkalemia type 1";0
"Autosomal dominant intermediate Charcot-Marie-Tooth disease type A";0
"Autosomal dominant intermediate Charcot-Marie-Tooth disease type B";0
"Autosomal dominant intermediate Charcot-Marie-Tooth disease type C";0
"Autosomal dominant intermediate Charcot-Marie-Tooth disease type D";0
"Esophageal duplication cyst";72
"Tubular duplication of the esophagus";0
"Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies";0
"Hereditary angioedema type 1";1
"Hereditary angioedema type 2";1
"Hereditary angioedema type 3";2
"Acquired angioedema type 2";1
"Acquired angioedema type 1";0
"Renin-angiotensin-aldosterone system-blocker-induced angioedema";0
"Waterhouse-Friderichsen syndrome";99
"Semantic dementia";802
"Progressive non-fluent aphasia";117
"Mosaic trisomy 3";2
"Neurogenic thoracic outlet syndrome";115
"Gastric neuroendocrine tumor";25
"Duodenal neuroendocrine tumor";14
"Jejunal neuroendocrine tumor";0
"Ileal neuroendocrine tumor";10
"Neuroendocrine tumor of the appendix";0
"Neuroendocrine tumor of the colon";1
"Neuroendocrine tumor of rectum";0
"Neuroendocrine tumor of the anal canal";0
"Laryngeal neuroendocrine tumor";2
"Middle ear neuroendocrine tumor";0
"Primary hepatic neuroendocrine carcinoma";27
"Gallbladder neuroendocrine tumor";0
"Thyroid tumor";957
"Thyroid carcinoma";13361
"Rare parathyroid tumor";2
"Adrenal/paraganglial tumor";0
"Gastroenteropancreatic endocrine tumor";0
"Carcinoid syndrome";1440
"Multiple polyglandular tumor";0
"2q37 microdeletion syndrome";3
"Thymic tumor";134
"Neuroendocrine tumor with other location";0
"Scalp defects-postaxial polydactyly syndrome";0
"Alopecia-contractures-dwarfism-intellectual disability syndrome";0
"Alopecia antibody deficiency";0
"Alopecia-epilepsy-pyorrhea-intellectual disability syndrome";0
"Porphyria due to ALA dehydratase deficiency";0
"Nuclear oculomotor paralysis";0
"FRAXE intellectual disability";3
"FRAXF syndrome";0
"Bathing suit ichthyosis";9
"Cloverleaf skull-asphyxiating thoracic dysplasia syndrome";0
"Autosomal dominant complex spastic paraplegia";0
"Autosomal dominant pure spastic paraplegia";10
"Autosomal recessive complex spastic paraplegia";0
"Autosomal recessive pure spastic paraplegia";0
"Autosomal dominant spastic paraplegia type 3";0
"Autosomal dominant spastic paraplegia type 4";0
"Autosomal recessive spastic paraplegia type 5A";0
"Autosomal dominant spastic paraplegia type 6";0
"Autosomal dominant spastic paraplegia type 8";0
"Autosomal dominant spastic paraplegia type 9";0
"Autosomal dominant spastic paraplegia type 10";0
"Autosomal dominant spastic paraplegia type 12";0
"Autosomal dominant spastic paraplegia type 13";0
"Autosomal recessive spastic paraplegia type 14";0
"Autosomal recessive spastic paraplegia type 15";0
"X-linked spastic paraplegia type 16";0
"Autosomal dominant spastic paraplegia type 17";0
"Autosomal dominant spastic paraplegia type 19";0
"Dentatorubral pallidoluysian atrophy";304
"Autosomal dominant palmoplantar keratoderma and congenital alopecia";0
"Autosomal recessive spastic paraplegia type 20";0
"Autosomal recessive spastic paraplegia type 21";0
"Autosomal recessive spastic paraplegia type 23";0
"Autosomal recessive spastic paraplegia type 24";0
"Autosomal recessive spastic paraplegia type 25";0
"Autosomal recessive spastic paraplegia type 26";0
"Autosomal recessive spastic paraplegia type 27";0
"Autosomal recessive spastic paraplegia type 28";0
"Autosomal dominant spastic paraplegia type 29";0
"Autosomal spastic paraplegia type 30";0
"Autosomal dominant spastic paraplegia type 31";0
"Romano-Ward syndrome";202
"Mediterranean macrothrombocytopenia";5
"Cleft hard palate";8
"Transaldolase deficiency";21
"Sub-cortical nodular heterotopia";0
"Subependymal nodular heterotopia";7
"Peters anomaly-cataract syndrome";0
"Female restricted epilepsy with intellectual disability";0
"Familial hypofibrinogenemia";2
"Aortic valve dysplasia";2
"Autosomal dominant epilepsy with auditory features";3
"Familial hypocalciuric hypercalcemia type 2";2
"Familial hypocalciuric hypercalcemia type 3";4
"Situs inversus totalis";356
"Congenital stromal corneal dystrophy";7
"Bilateral frontoparietal polymicrogyria";36
"Unilateral hemispheric polymicrogyria";0
"X-linked Charcot-Marie-Tooth disease type 1";4
"X-linked Charcot-Marie-Tooth disease type 2";0
"X-linked Charcot-Marie-Tooth disease type 3";0
"X-linked Charcot-Marie-Tooth disease type 4";0
"Charcot-Marie-Tooth disease type 1A";248
"Charcot-Marie-Tooth disease type 1B";40
"Charcot-Marie-Tooth disease type 1C";11
"Charcot-Marie-Tooth disease type 1D";0
"Charcot-Marie-Tooth disease type 1F";0
"X-linked hyper-IgM syndrome";146
"Hyper-IgM syndrome type 2";4
"Hyper-IgM syndrome type 3";0
"Hyper-IgM syndrome type 4";0
"Hyper-IgM syndrome type 5";0
"Aregenerative anemia";24
"Autosomal recessive Charcot-Marie-Tooth disease with hoarseness";0
"Alopecia-hypogonadism-extrapyramidal syndrome";0
"Charcot-Marie-Tooth disease type 2B2";0
"Charcot-Marie-Tooth disease type 2H";0
"Marin-Amat syndrome";8
"Non-secreting chemodectoma";0
"Spinocerebellar ataxia type 22";0
"Spinocerebellar ataxia type 23";6
"Spinocerebellar ataxia type 28";13
"Spinocerebellar ataxia type 20";5
"Spinocerebellar ataxia type 25";0
"Spinocerebellar ataxia type 26";1
"Autosomal recessive dopa-responsive dystonia";7
"Dystonia 14";7
"Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome";0
"Porphyria cutanea tarda";1113
"African tick typhus";2
"Familial isolated congenital asplenia";0
"Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome";0
"Rare urogenital disease";0
"Rare genetic eye disease";0
"Rare non-syndromic intellectual disability";0
"X-linked diffuse leiomyomatosis-Alport syndrome";0
"Epstein syndrome";34
"Anomaly of the mitral subvalvular apparatus";0
"Genetic cardiac rhythm disease";0
"Rare gastroesophageal disease";0
"Rare pancreatic disease";0
"Rare vascular liver disease";0
"Rare parenchymal liver disease";0
"Rare metabolic liver disease";0
"Rare biliary tract disease";0
"Rare hepatic and biliary tract tumor";0
"Rare pulmonary disease";24
"Rare bronchopulmonary tumor";0
"Rare acquired eye disease";0
"Rare eye tumor";4
"Rare diabetes mellitus";0
"Rare dyslipidemia";0
"Rare adrenal disease";0
"Rare thyroid disease";2
"Polyendocrinopathy";549
"Pituitary deficiency";209
"Primary adrenal insufficiency";369
"Chronic primary adrenal insufficiency";5
"Genetic chronic primary adrenal insufficiency";0
"Acquired chronic primary adrenal insufficiency";0
"Combined T and B cell immunodeficiency";0
"Immunodeficiency predominantly affecting antibody production";0
"Quantitative and/or qualitative congenital phagocyte defect";0
"Constitutional neutropenia";4
"Primary immunodeficiency due to a defect in innate immunity";0
"Immunodeficiency due to a complement cascade protein anomaly";0
"Periodic fever syndrome";204
"Primary immunodeficiency";2316
"Rare epilepsy";0
"Multiple system atrophy";2760
"Early-onset autosomal dominant Alzheimer disease";4
"Medullar disease";0
"Rare ataxia";0
"Rare movement disorder";67
"Brain inflammatory disease";3
"Neurovascular malformation";0
"Classic lissencephaly";9
"Other syndrome with lissencephaly as a major feature";0
"Lissencephaly type 3";0
"Pure hereditary spastic paraplegia";33
"Complex hereditary spastic paraplegia";15
"Autosomal dominant limb-girdle muscular dystrophy";44
"Autosomal recessive limb-girdle muscular dystrophy";69
"Autosomal monosomy";14
"Rickettsial disease";265
"Spotted fever rickettsiosis";45
"Typhus-group rickettsiosis";6
"Human herpesvirus 8-related disorder";0
"Nuclear cell envelopathy";0
"Amaurosis-hypertrichosis syndrome";0
"Unexplained periodic fever syndrome";0
"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability";0
"Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome";0
"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability";0
"Congenital generalized hypertrichosis, Ambras type";0
"Rare syndromic intellectual disability";0
"Primary glomerular disease";164
"Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent";0
"Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor";0
"Autosomal recessive amelia";0
"Acute myeloid leukemia with t(8;21)(q22;q22) translocation";0
"Ameloonychohypohidrotic syndrome";0
"Amelogenesis imperfecta-nephrocalcinosis syndrome";0
"Hyperdibasic aminoaciduria type 1";0
"Amniotic bands";152
"Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria";0
"Arthrogryposis multiplex congenita";370
"Chronic diarrhea due to glucoamylase deficiency";0
"Congenital sodium diarrhea";12
"Diarrhea-vomiting due to trehalase deficiency";0
"Congenital enterocyte heparan sulfate deficiency";0
"Epithelio-exfoliative colitis-deafness syndrome";0
"Autoimmune enteropathy type 2";0
"Autoimmune enteropathy type 3";0
"Tropical pancreatitis";73
"Autoimmune pancreatitis";1211
"Undetermined colitis";16
"Leber hereditary optic neuropathy";334
"Metaphyseal anadysplasia";7
"Congenital intestinal transport defect";0
"Intestinal disease due to vitamin absorption anomaly";0
"Intestinal disease due to fat malabsorption";0
"Congenital intestinal disease due to an enzymatic defect";0
"Congenital enteropathy involving intestinal mucosa development";0
"Short bowel syndrome";2307
"Rare disease involving intestinal motility";0
"Intestinal polyposis syndrome";5
"Rare tumor of intestine";0
"Rare inflammatory bowel disease";0
"Metabolic disease with intestinal involvement";0
"Adenocarcinoma of small instestine";0
"Leiomyosarcoma of small intestine";0
"Myopathic intestinal pseudoobstruction";0
"Unclassified intestinal pseudoobstruction";0
"Hydrops fetalis";2452
"Lethal hemolytic anemia-genital anomalies syndrome";0
"Sideroblastic anemia";869
"Isolated anencephaly/exencephaly";0
"Atresia of urethra";0
"Ramos-Arroyo syndrome";2
"Mosaic variegated aneuploidy syndrome";33
"Vein of Galen aneurysm";96
"Aneurysm of sinus of Valsalva";69
"Fetal left ventricular aneurysm";0
"Blue rubber bleb nevus";186
"Systemic cystic angiomatosis-Seip syndrome";0
"Hereditary neurocutaneous malformation";0
"Tufted angioma";118
"Aniridia-renal agenesis-psychomotor retardation syndrome";0
"Aniridia-cerebellar ataxia-intellectual disability syndrome";0
"Aniridia-ptosis-intellectual disability-familial obesity syndrome";0
"Aniridia-intellectual disability syndrome";0
"Aniridia-absent patella syndrome";0
"BOR syndrome";111
"Anisakiasis";404
"Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome";8
"Ankyloblepharon filiforme adnatum-cleft palate syndrome";0
"Ankyloblepharon filiforme-imperforate anus syndrome";0
"Dental ankylosis";24
"Thumb stiffness-brachydactyly-intellectual disability syndrome";0
"Babesiosis";692
"Coronary artery congenital malformation";0
"Microlissencephaly";29
"Isolated lissencephaly type 1 without known genetic defects";0
"Short stature-heart defect-craniofacial anomalies syndrome";0
"Non-syndromic esophageal malformation";0
"Syndromic esophageal malformation";0
"Non-syndromic gastroduodenal malformation";0
"Syndromic gastroduodenal malformation";0
"Non-syndromic intestinal malformation";0
"Syndromic intestinal malformation";0
"Non-syndromic visceral malformation";0
"Syndromic visceral malformation";0
"Non-syndromic diaphragmatic or abdominal wall malformation";0
"Syndromic diaphragmatic or abdominal wall malformation";0
"Non-syndromic developmental defect of the eye";0
"Syndromic developmental defect of the eye";0
"Non-syndromic central nervous system malformation";0
"Syndrome with a central nervous system malformation as major feature";0
"Non-syndromic respiratory or mediastinal malformation";0
"Syndromic respiratory or mediastinal malformation";0
"Rare anemia";0
"Rare intoxication";5
"Bannayan-Riley-Ruvalcaba syndrome";93
"Arthrogryposis syndrome";12
"Syndrome with limb malformations as a major feature";0
"Non-syndromic limb malformation";0
"Renal-genital-middle ear anomalies";0
"Anonychia-microcephaly syndrome";0
"Pentasomy X";16
"Bardet-Biedl syndrome";600
"Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome";0
"Anophthalmia-hypothalamo-pituitary insufficiency syndrome";0
"Anophthalmia plus syndrome";11
"Microphthalmia with limb anomalies";4
"Barth syndrome";218
"Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome";0
"Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome";0
"Aphalangy-syndactyly-microcephaly syndrome";0
"Aplasia cutis congenita";305
"Recessive aplasia cutis congenita of limbs";0
"Aplasia cutis congenita-intestinal lymphangiectasia syndrome";0
"Aplasia cutis-myopia syndrome";0
"Fibular aplasia-ectrodactyly syndrome";0
"Bartter syndrome";927
"Lung agenesis-heart defect-thumb anomalies syndrome";0
"Radial deficiency-tibial hypoplasia syndrome";0
"Ulnar hypoplasia-split foot syndrome";0
"Caudal appendage-deafness syndrome";0
"Ocular motor apraxia, Cogan type";0
"Aprosencephaly cerebellar dysgenesis";0
"Arachnodactyly-abnormal ossification-intellectual disability syndrome";0
"Bazex-Dupré-Christol syndrome";33
"Arachnodactyly-intellectual disability-dysmorphism syndrome";0
"X-linked mandibulofacial dysostosis";0
"Aortic arch defects";10
"AREDYLD syndrome";1
"Arrhinia";15
"Arrhinia-choanal atresia-microphthalmia syndrome";0
"Arnold-Chiari malformation type II";11
"Abnormal origin of the pulmonary artery";1
"Auriculoosteodysplasia";0
"Neurogenic arthrogryposis multiplex congenita";6
"Arthrogryposis-like hand anomaly-sensorineural deafness syndrome";0
"Infantile-onset X-linked spinal muscular atrophy";0
"Digitotalar dysmorphism";5
"Sheldon-Hall syndrome";10
"Arthrogryposis-like syndrome";0
"Congenital contractural arachnodactyly";89
"Arthrogryposis multiplex congenita-whistling face syndrome";0
"Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome";0
"Arthrogryposis due to muscular dystrophy";0
"Progressive pseudorheumatoid arthropathy of childhood";6
"Beckwith-Wiedemann syndrome";1074
"Chylous ascites";768
"Aspergillosis";10350
"Allergic bronchopulmonary aspergillosis";1404
"Congenital unilateral hypoplasia of depressor anguli oris";0
"Facial asymmetry-temporal seizures syndrome";0
"Ataxia-oculomotor apraxia type 1";10
"Behçet disease";892
"Autosomal recessive cerebelloparenchymal disorder type 3";0
"Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome";0
"Autosomal recessive cerebellar ataxia";67
"Cerebellar ataxia-hypogonadism syndrome";0
"Cerebellar ataxia-ectodermal dysplasia syndrome";0
"X-linked progressive cerebellar ataxia";0
"Rare intestinal disease";3
"Syndromic anorectal malformation";0
"Early-onset cerebellar ataxia with retained tendon reflexes";29
"Ataxia-tapetoretinal degeneration syndrome";0
"Benign paroxysmal tonic upgaze of childhood with ataxia";0
"Beta-mannosidosis";43
"Ataxia-hypogonadism-choroidal dystrophy syndrome";0
"Spastic ataxia with congenital miosis";0
"Opsoclonus-myoclonus syndrome";261
"Ataxia-photosensitivity-short stature syndrome";0
"Spinocerebellar ataxia-dysmorphism syndrome";0
"Infantile onset spinocerebellar ataxia";34
"Lethal ataxia with deafness and optic atrophy";0
"Ataxia-deafness-intellectual disability syndrome";0
"Autosomal recessive limb-girdle muscular dystrophy type 2E";0
"Atelosteogenesis type I";10
"Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome";0
"Atkin-Flaitz syndrome";2
"TMEM70-related mitochondrial encephalo-cardio-myopathy";0
"Congenital atransferrinemia";7
"Colonic atresia";101
"Esophageal atresia";2356
"Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome";0
"Atresia of small intestine";27
"Larynx atresia";0
"Duodenal atresia";465
"Mitral atresia";183
"Pulmonary atresia with ventricular septal defect";285
"Pulmonary atresia-intact ventricular septum syndrome";0
"Tricuspid atresia";964
"Progressive hemifacial atrophy";110
"Autosomal dominant optic atrophy plus syndrome";0
"Autosomal dominant congenital benign spinal muscular atrophy";0
"Spinal atrophy-ophthalmoplegia-pyramidal syndrome";0
"Aurocephalosyndactyly";0
"Birt-Hogg-Dubé syndrome";277
"Cheilitis glandularis";31
"Balantidiasis";47
"Baller-Gerold syndrome";44
"Bamforth-Lazarus syndrome";3
"Bangstad syndrome";0
"Banki syndrome";0
"Congenital intrauterine infection-like syndrome";3
"Björnstad syndrome";16
"Barber-Say syndrome";12
"Bartsocas-Papas syndrome";28
"Ectodermal dysplasia-absent dermatoglyphs syndrome";0
"Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome";0
"Beemer-Ertbruggen syndrome";0
"Behr syndrome";8
"Blackfan-Diamond anemia";19
"Metaphyseal acroscyphodysplasia";3
"Bencze syndrome";2
"Best vitelliform macular dystrophy";85
"BIDS syndrome";5
"Brachydactyly-nystagmus-cerebellar ataxia syndrome";0
"Schistosomiasis";9991
"Maxillonasal dysplasia";46
"Bloom syndrome";876
"Blepharofacioskeletal syndrome";2
"Blepharonasofacial malformation syndrome";0
"Ascher syndrome";6
"Blepharophimosis-radioulnar synostosis syndrome";0
"Blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome";0
"Blepharoptosis-myopia-ectopia lentis syndrome";0
"Blepharophimosis-epicanthus inversus-ptosis syndrome";0
"Sino-auricular heart block";1
"Bonnemann-Meinecke-Reich syndrome";0
"Böök syndrome";0
"Boomerang dysplasia";17
"Tricho-retino-dento-digital syndrome";0
"Dermato-cardio-skeletal syndrome, Borrone type";0
"Botulism";1275
"Borjeson-Forssman-Lehmann syndrome";39
"Bowen-Conradi syndrome";18
"Bowen syndrome";3
"Fine-Lubinsky syndrome";4
"Brachydactyly-elbow wrist dysplasia syndrome";0
"Brachydactyly-arterial hypertension syndrome";0
"Brachydactyly-mesomelia-intellectual disability-heart defects syndrome";0
"Brachydactyly-preaxial hallux varus syndrome";0
"Diphyllobothriasis";180
"Pseudopelade of Brocq";20
"Brachymorphism-onychodysplasia-dysphalangism syndrome";3
"Brachyolmia";38
"Brachytelephalangy-dysmorphism-Kallmann syndrome";0
"Lambert syndrome";83
"Branchio-oculo-facial syndrome";50
"Branchioskeletogenital syndrome";0
"6-pyruvoyl-tetrahydropterin synthase deficiency";36
"Brugada syndrome";2130
"Autosomal dominant popliteal pterygium syndrome";0
"Bronchiectasis-oligospermia syndrome";0
"Cryptogenic organizing pneumonia";845
"Bronchiolitis obliterans with obstructive pulmonary disease";0
"Brucellosis";3446
"Feingold syndrome";24
"Buschke-Ollendorff syndrome";65
"Distal limb deficiencies-micrognathia syndrome";0
"C syndrome";49
"Medullary sponge kidney";185
"Budd-Chiari syndrome";2060
"Caffey disease";33
"Infantile choroidocerebral calcification syndrome";0
"Symmetrical thalamic calcifications";2
"CAMFAK syndrome";1
"Campomelia, Cumming type";0
"Camptobrachydactyly";0
"Butyrylcholinesterase deficiency";33
"Idiopathic camptocormia";3
"Camptodactyly-fibrous tissue hyperplasia-skeletal dysplasia syndrome";0
"Camptodactyly-joint contractures-facial skeletal defects syndrome";0
"Camptodactyly-taurinuria syndrome";0
"Camptodactyly syndrome, Guadalajara type 2";0
"Camptodactyly syndrome, Guadalajara type 1";0
"Camurati-Engelmann disease";81
"Complete atrioventricular canal";217
"Chronic beryllium disease";287
"Partial atrioventricular canal";77
"Familial prostate cancer";169
"Medullary thyroid carcinoma";2828
"Familial pancreatic carcinoma";12
"Chronic mucocutaneous candidiasis";515
"Pentalogy of Cantrell";132
"Hyperkeratosis-hyperpigmentation syndrome";1
"Heart defect-tongue hamartoma-polysyndactyly syndrome";0
"Beta-ketothiolase deficiency";44
"Cardiofaciocutaneous syndrome";99
"Heart-hand syndrome type 3";0
"Atrial standstill";121
"Cardiomyopathy-cataract-hip spine disease syndrome";0
"Maternally-inherited cardiomyopathy and hearing loss";0
"CACH syndrome";6
"Heart-hand syndrome type 2";0
"Atrioventricular defect-blepharophimosis-radial and anal defect syndrome";0
"Heart defects-limb shortening syndrome";0
"Congenital heart defect-round face-developmental delay syndrome";0
"Carey-Fineman-Ziter  syndrome";6
"Carney complex";493
"CADASIL";866
"Carnosinemia";4
"Autosomal recessive palmoplantar keratoderma and congenital alopecia";0
"Cataract-ataxia-deafness syndrome";0
"Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome";0
"Congenital disorder of glycosylation";252
"Cataract-aberrant oral frenula-growth delay syndrome";0
"Cataract-hypertrichosis-intellectual disability syndrome";0
"Neonatal hypoxic and ischemic brain injury";0
"Vulvar intraepithelial neoplasia";475
"Herpes simplex virus keratitis";72
"Infectious epithelial keratitis";4
"Neurotrophic keratopathy";77
"Stromal keratitis";348
"Congenital cataract-ichthyosis syndrome";0
"Endotheliitis";146
"Legius syndrome";47
"Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome";0
"Nephrogenic systemic fibrosis";544
"Intractable diarrhea-choanal atresia-eye anomalies syndrome";0
"Glycogen storage disease due to muscle and heart glycogen synthase deficiency";0
"Cardiac anomalies-heterotaxy syndrome";0
"Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome";0
"Overgrowth-macrocephaly-facial dysmorphism syndrome";0
"Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome";0
"Microcephaly-digital anomalies-intellectual disability syndrome";0
"Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome";0
"Capillary malformation-arteriovenous malformation syndrome";16
"Pellucid marginal degeneration";117
"Histiocytoid cardiomyopathy";38
"Czech dysplasia, metatarsal type";0
"Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1";0
"Asherman syndrome";57
"Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk";0
"Cataract-microcornea syndrome";16
"Neurological conditions associated with aminoacylase 1 deficiency";0
"Lethal congenital contracture syndrome type 2";0
"Lethal congenital contracture syndrome type 3";0
"Primary cutaneous amyloidosis";74
"Nodular cutaneous amyloidosis";21
"Macular amyloidosis";87
"Arachnoiditis";981
"Rare endometriosis";0
"X-linked intellectual disability-cerebellar hypoplasia syndrome";0
"Frank-Ter Haar syndrome";12
"Lemierre syndrome";232
"Martínez-Frías syndrome";7
"Madras motor neuron disease";8
"Laminopathy type Decaudain-Vigouroux";0
"Auriculocondylar syndrome";8
"Male infertility due to large-headed multiflagellar polyploid spermatozoa";0
"Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome";0
"Isolated optic nerve hypoplasia";2
"Syndromic optic nerve hypoplasia";0
"Hypotonia with lactic acidemia and hyperammonemia";0
"Autism-facial port-wine stain syndrome";0
"Choanal atresia";827
"Choanal atresia, unilateral";0
"Choanal atresia, bilateral";0
"Primary laryngeal lymphangioma";0
"Neonatal brainstem dysfunction";4
"Congenital laryngeal palsy";0
"Laryngotracheal angioma";0
"CHARGE syndrome";335
"Cataract-nephropathy-encephalopathy syndrome";0
"Pierre Robin syndrome associated with collagen disease";0
"Rare disease with Pierre Robin syndrome";0
"Pierre Robin syndrome associated with a chromosomal anomaly";0
"Pierre Robin syndrome associated with branchial archs anomalies";0
"Pierre Robin syndrome associated with bone disease";0
"Teratogenic Pierre Robin syndrome";0
"Sucking/swallowing disorder not related with Pierre Robin syndrome";0
"Sucking/swallowing disorder associated with an identified syndrome";0
"Sucking/swallowing disorder associated to a chromosomal anomaly";0
"Syndromic sucking/swallowing disorder with unidentifyed syndrome";0
"Sucking/swallowing disorder associated to cervicofacial or esophageal malformation";0
"Sucking/swallowing disorder associated with neurologic anomalies";0
"Cataract-intellectual disability-anal atresia-urinary defects syndrome";0
"Sucking/swallowing disorder associated with suprabulbar anomalies";0
"Sucking/swallowing disorder associated with basal ganglia anomalies";0
"Sucking/swallowing disorder associated with posterior fossa anomalies";0
"Sucking/swallowing disorder associated with cerebellar anomalies";0
"Sucking/swallowing disorder associated with a neuromuscular disease";0
"Acquired alimentary behavior disorder of infancy";0
"Sucking/swallowing disorder";0
"Cataract-deafness-hypogonadism syndrome";0
"Cataract-intellectual disability-hypogonadism syndrome";0
"Catel-Manzke syndrome";18
"Cortical blindness-intellectual disability-polydactyly syndrome";0
"CHILD syndrome";502
"Night blindness-skeletal anomalies-dysmorphism syndrome";0
"Developmental anomaly of metabolic origin";0
"Rare bone development disorder";0
"Malformation syndrome with short stature";0
"Overgrowth/obesity syndrome";0
"Malformation syndrome with skin/mucosae involvement";0
"Rare developmental defect with connective tissue involvement";0
"Progeroid syndrome";152
"Branchial arch or oral-acral syndrome";0
"Orofacial clefting syndrome";2
"Malformation syndrome with odontal and/or periodontal component";0
"Cerebrocostomandibular syndrome";15
"Isolated craniosynostosis";43
"Syndromic craniosynostosis";268
"X-linked cerebral adrenoleukodystrophy";4
"Adrenomyeloneuropathy";316
"Cerebrofaciothoracic dysplasia";7
"Drug rash with eosinophilia and systemic symptoms";163
"Encephalopathy due to prosaposin deficiency";0
"Carney triad";86
"Congenital panfollicular nevus";3
"Acute transverse myelitis";299
"Secondary acute transverse myelitis";0
"Idiopathic acute transverse myelitis";21
"Perioral myoclonia with absences";0
"Jeavons syndrome";17
"Multicentric reticulohistiocytosis";193
"Hypomyelination with atrophy of basal ganglia and cerebellum";2
"Leukoencephalopathy with bilateral anterior temporal lobe cysts";0
"Progressive cavitating leukoencephalopathy";4
"Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome";0
"Autosomal recessive bestrophinopathy";28
"SERKAL syndrome";0
"Microphthalmia with brain and digit anomalies";0
"17q11.2 microduplication syndrome";0
"Al-Gazali-Dattani syndrome";0
"Autosomal recessive spastic paraplegia type 39";0
"Autosomal recessive ataxia due to ubiquinone deficiency";0
"Hemochromatosis type 4";15
"African iron overload";19
"Neuropathy with hearing impairment";0
"Charcot-Marie-Tooth disease type 4J";15
"Distal hereditary motor neuropathy type 1";0
"Distal hereditary motor neuropathy type 2";0
"Distal hereditary motor neuropathy type 5";0
"Distal spinal muscular atrophy type 3";0
"Distal hereditary motor neuropathy, Jerash type";0
"X-linked distal spinal muscular atrophy type 3";0
"Hereditary sensory and autonomic neuropathy type 1B";0
"Hereditary sensory and autonomic neuropathy with deafness and global delay";0
"Hereditary sensory and autonomic neuropathy with spastic paraplegia";0
"X-linked hereditary sensory and autonomic neuropathy with deafness";0
"Distal hereditary motor neuropathy type 7";0
"Cerebrorenodigital syndrome";0
"Hydrocephaly-cerebellar agenesis syndrome";0
"Isolated cerebellar hypoplasia/agenesis";0
"Richards-Rundle syndrome";3
"Abetalipoproteinemia";357
"Campomelic dysplasia";164
"CHAND syndrome";4
"Inherited cancer-predisposing syndrome";0
"Secondary hypoparathyroidism due to impaired parathormon secretion";0
"Hereditary iron overload with neurologic manifestation";0
"Hereditary iron overload with anemia";0
"Primary intraosseous venous malformation";0
"Hereditary motor and sensory neuropathy";514
"Autosomal dominant hereditary demyelinating motor and sensory neuropathy";0
"Autosomal dominant hereditary axonal motor and sensory neuropathy";0
"Autosomal recessive hereditary demyelinating motor and sensory neuropathy";0
"Autosomal dominant distal hereditary motor neuropathy";0
"Autosomal recessive distal hereditary motor neuropathy";0
"Hereditary sensory and autonomic neuropathy";169
"Autosomal dominant hereditary sensory and autonomic neuropathy";0
"Autosomal recessive hereditary sensory and autonomic neuropathy";0
"Autosomal dominant slowed nerve conduction velocity";0
"Neurological channelopathy";3
"Channelopathy";654
"Charlie M syndrome";5
"Neuro-ophthalmological disease";4
"Hair defect-photosensitivity-intellectual disability syndrome";0
"Joubert syndrome and related disorders";31
"Acute respiratory coronavirus infection";0
"Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome";0
"Hyperlipidemia due to hepatic triglyceride lipase deficiency";0
"Brachydactyly type B2";4
"Stapes ankylosis with broad thumbs and toes";0
"Autosomal recessive limb-girdle muscular dystrophy type 2J";0
"Benign familial neonatal-infantile seizures";28
"Linear atrophoderma of Moulin";14
"Lelis syndrome";1
"Short stature due to primary acid-labile subunit deficiency";0
"CLOVES syndrome";27
"Low-flow priapism";59
"Syndactyly-telecanthus-anogenital and renal malformations syndrome";0
"Autosomal dominant macrothrombocytopenia";17
"Bilateral microtia-deafness-cleft palate syndrome";0
"Palmoplantar keratoderma, Nagashima type";0
"Saldino-Mainzer syndrome";5
"RHYNS syndrome";1
"Primary central nervous system vasculitis";43
"Orofaciodigital syndrome";73
"Canavan disease";230
"Uncombable hair syndrome";26
"Orofaciodigital syndrome type 11";0
"Orofaciodigital syndrome type 9";0
"First branchial cleft anomaly";31
"Second branchial cleft anomaly";7
"Third branchial cleft anomaly";0
"Fourth branchial cleft anomaly";4
"Cervical dermoid cyst";2
"Facial dermoid cyst";0
"Commissural lip fistula";1
"Lower lip fistula";1
"Cervicofacial fibrochondroma";0
"Digestive duplication cyst of the tongue";0
"External auditory canal aplasia/hypoplasia";0
"Epignathus";103
"Nasolacrimal duct cyst";12
"Polyrrhinia";0
"Supernumerary nostril";20
"Proboscis lateralis";36
"Nasal dermoid cyst";21
"Nasopharyngeal teratoma";50
"Nasal glial heterotopia";11
"Nasal ganglioglioma";0
"Nasal encephalocele";16
"Congenital subglottic stenosis";57
"Congenital laryngeal cyst";14
"Congenital tracheal stenosis";203
"Oculo-auriculo-vertebral spectrum";85
"Hemifacial microsomia";573
"Hemifacial hypertrophy";30
"Hemifacial myohyperplasia";4
"Isolated congenital hypoglossia/aglossia";0
"Glossopalatine ankylosis";8
"Frontonasal arteriovenous malformation";0
"Maxillary arteriovenous malformation";5
"Mandibular arteriovenous malformation";13
"Non-involuting congenital hemangioma";8
"Rapidly involuting congenital hemangioma";35
"Cerebrofacial arteriovenous metameric syndrome";4
"Cerebrofacial arteriovenous metameric syndrome type 1";0
"Cerebrofacial arteriovenous metameric syndrome type 3";0
"Tarsal-carpal coalition syndrome";7
"Diffuse lymphatic malformation";0
"Isolated congenital syngnathia";0
"Nasal dorsum fistula/cyst";0
"Facial cleft";297
"Median facial cleft";12
"Median cleft of the upper lip and maxilla";0
"Paramedian nasal cleft";0
"Oblique facial cleft";31
"Tessier number 4 facial cleft";0
"Tessier number 5 facial cleft";0
"Tessier number 6 facial cleft";0
"Lateral facial cleft";16
"Commissural facial cleft";0
"Midline cervical cleft";36
"Cleft lip and alveolus";93
"Orofaciodigital syndrome type 12";0
"Orofaciodigital syndrome type 13";0
"Biemond syndrome type 2";1
"Cholestasis-lymphedema syndrome";1
"Cholestasis-pigmentary retinopathy-cleft palate syndrome";0
"Familial calcium pyrophosphate deposition";0
"Anaplastic thyroid carcinoma";899
"Lethal chondrodysplasia, Moerman type";0
"Lethal chondrodysplasia, Seller type";0
"Chondrodysplasia-disorder of sex development syndrome";0
"Lethal recessive chondrodysplasia";0
"Desbuquois syndrome";21
"Greenberg dysplasia";10
"Otospondylomegaepiphyseal dysplasia";8
"Familial chondromalacia patellae";0
"Benign familial chorea";9
"Parathyroid carcinoma";723
"Paroxysmal dyskinesia";89
"Autosomal dominant chorioretinopathy-microcephaly syndrome";0
"Choroidal atrophy-alopecia syndrome";0
"Choroideremia-hypopituitarism syndrome";0
"Choroideremia-deafness-obesity syndrome";0
"Skeletal dysplasia-intellectual disability syndrome";0
"Ring chromosome 1";15
"Ring chromosome 10";10
"Ring chromosome 12";9
"Lynch syndrome";1719
"Ring chromosome 14";48
"Ring chromosome 17";17
"Ring chromosome 18";48
"Ring chromosome 19";8
"Ring chromosome 20";57
"Ring chromosome 21";54
"Ring chromosome 22";40
"Ring chromosome 4";32
"Ring chromosome 6";31
"Ring chromosome 7";25
"Hereditary breast and ovarian cancer syndrome";224
"Chromosome 8-derived supernumerary ring/marker";0
"CINCA syndrome";68
"Cleidocranial dysplasia";422
"Cleidorhizomelic syndrome";0
"Joubert syndrome with hepatic defect";0
"Autosomal dominant coarctation of aorta";0
"Atypical coarctation of aorta";0
"Aorta coarctation";41
"CODAS syndrome";8
"Celiac disease-epilepsy-cerebral calcification syndrome";0
"Differentiated thyroid carcinoma";2296
"Isolated CoQ-cytochrome C reductase deficiency";0
"Criss-cross heart";44
"Triatrial heart";11
"Univentricular heart";522
"Coffin-Siris syndrome";93
"COFS syndrome";29
"Cogan syndrome";129
"Carbamoyl-phosphate synthetase 1 deficiency";9
"Coloboma of macula-brachydactyly type B syndrome";0
"Uveal coloboma-cleft lip and palate-intellectual disability";0
"Colobomatous-microphthalmia-heart disease-hearing loss syndrome";0
"Renal coloboma syndrome";48
"Interatrial communication";263
"Atrial septal defect-atrioventricular conduction defects syndrome";0
"Multiple carboxylase deficiency";128
"Gonococcal conjunctivitis";50
"Contractures-ectodermal dysplasia-cleft lip/palate syndrome";0
"Arthrogryposis-hyperkeratosis syndrome, lethal form";0
"Lethal congenital contracture syndrome type 1";0
"Cooks syndrome";4
"Cooper-Jabs syndrome";0
"Whooping cough";3453
"Corneal dystrophy-perceptive deafness syndrome";0
"Corpus callosum agenesis-double urinary collecting system syndrome";0
"Vici syndrome";22
"Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome";0
"Corpus callosum agenesis-neuronopathy syndrome";0
"X-linked complicated corpus callosum dysgenesis";0
"Achondroplasia";1244
"Nasopharyngeal carcinoma";8603
"Adrenocortical carcinoma";1817
"Short rib-polydactyly syndrome";136
"Thin ribs-tubular bones-dysmorphism syndrome";0
"Autosomal recessive Robinow syndrome";15
"Coxoauricular syndrome";1
"Coxopodopatellar syndrome";1
"Crane-Heise syndrome";3
"Craniodiaphyseal dysplasia";24
"Craniodigital syndrome-intellectual disability syndrome";0
"Cranioectodermal dysplasia";24
"Craniofacial dyssynostosis";6
"Hypertrichotic osteochondrodysplasia, Cantu type";0
"Hypertelorism, Teebi type";0
"Craniofrontonasal dysplasia";45
"Craniofrontonasal dysplasia-Poland anomaly syndrome";0
"Craniometaphyseal dysplasia";78
"Craniomicromelic syndrome";3
"Cranio-osteoarthropathy";4
"Craniosynostosis, Philadelphia type";1
"Craniotelencephalic dysplasia";4
"Craniofacial-deafness-hand syndrome";5
"Craniosynostosis-cataract syndrome";0
"Craniosynostosis";2686
"Gómez-López-Hernández syndrome";21
"Craniosynostosis-fibular aplasia syndrome";0
"Craniosynostosis-dysmorphism-brachydactyly syndrome";0
"Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome";0
"Familial isolated dilated cardiomyopathy";0
"Jackson-Weiss syndrome";17
"Craniosynostosis, Boston type";0
"Benign focal seizures of adolescence";0
"Crisponi syndrome";20
"Cryptococcosis";3884
"Cryptomicrotia-brachydactyly-excess fingertip arch syndrome";0
"Cryptorchidism-arachnodactyly-intellectual disability syndrome";0
"Cryptosporidiosis";2837
"Familial benign copper deficiency";2
"Currarino triad";84
"Curry-Jones syndrome";5
"Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome";0
"Cutis marmorata telangiectatica congenita";150
"Cutis verticis gyrata-intellectual disability syndrome";0
"Rare head and neck malformation";0
"Cysts and fistulae of the face and oral cavity";0
"Pinnae fistula or cyst";0
"Paramedian facial cleft";4
"Submucosal cleft palate";24
"Coloboma of superior eyelid";0
"Coloboma of inferior eyelid";0
"Otomandibular dysplasia";8
"Mandibulofacial dysostosis";762
"Carnitine palmitoyl transferase 1A deficiency";6
"Cysticercosis";2427
"Primary glaucoma";295
"Keratoconus";4079
"Fatal infantile cytochrome C oxidase deficiency";3
"Predominantly large-vessel vasculitis";0
"Predominantly medium-vessel vasculitis";0
"Predominantly small-vessel vasculitis";2
"Immune complex mediated vasculitis";42
"Anti-neutrophil cytoplasmic antibody-associated vasculitis";949
"Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy";0
"Isolated dystonia";37
"Nephropathy-associated ciliopathy";0
"Retinal ciliopathy";10
"Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene";0
"Retinal ciliopathy due to mutation in the RPGR gene";0
"Retinal ciliopathy due to mutation in the RPGRIP gene";0
"Retinal ciliopathy due to mutation in Usher gene";0
"Retinal ciliopathy due to mutation in nephronophthisis gene";0
"Retinal ciliopathy due to mutation in Bardet-Biedl gene";0
"Dacryocystitis-osteopoikilosis syndrome";0
"Otomandibular dysplasia associated with monogenic syndromes";0
"Macroglossia";817
"Hypoglossia/aglossia";2
"Oromandibular-limb anomalies syndrome";0
"Paralytic facial malformation";0
"Facial arteriovenous malformation";8
"Syndrome or malformation associated with head and neck malformations";0
"Pinnae and external auditory canal anomaly";0
"Nose and cavum anomaly";0
"Larynx anomaly";0
"Tracheal anomaly";13
"Dahlberg-Borer-Newcomer syndrome";0
"Dandy-Walker malformation-facial hemangioma syndrome";0
"Rare syndrome with cardiac malformations";0
"Dandy-Walker malformation-postaxial polydactyly syndrome";0
"Rare genetic hepatic disease";0
"Genetic parenchymatous liver disease";0
"Genetic biliary tract disease";0
"Rare genetic respiratory disease";0
"Rare genetic urogenital disease";0
"Genetic urogenital tract malformation";0
"Genetic hypertension";160
"Rare genetic endocrine disease";0
"Genetic endocrine growth disease";0
"Piepkorn dysplasia";1
"Spondyloepimetaphyseal dysplasia, matrilin-3 type";0
"Dyssegmental dysplasia, Rolland-Desbuquois type";3
"X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome";0
"De Sanctis-Cacchione syndrome";19
"Carnitine palmitoyltransferase II deficiency";73
"Symbrachydactyly of hands and feet";0
"Knobloch syndrome";38
"Common variable immunodeficiency";1917
"Hereditary hypophosphatemic rickets with hypercalciuria";0
"Hypotrichosis with juvenile macular degeneration";0
"Retinal degeneration-nanophthalmos-glaucoma syndrome";0
"Infantile striatothalamic degeneration";0
"Infantile bilateral striatal necrosis";18
"Infantile thalamic degeneration";1
"Congenital or early infantile CACH syndrome";0
"Late infantile CACH syndrome";0
"Juvenile or adult CACH syndrome";0
"Situs ambiguus";68
"Hypospadias-hypertelorism-coloboma and deafness syndrome";0
"Epithelioid hemangioendothelioma";818
"Hereditary mixed polyposis syndrome";29
"Hyperplastic polyposis syndrome";28
"Dehydratase deficiency";30
"Mesoaxial synostotic syndactyly with phalangeal reduction";0
"Congenital pseudoarthrosis of the limbs";0
"Cold-induced sweating syndrome";15
"Klüver-Bucy syndrome";148
"Congenital epulis";140
"Craniorhiny";3
"Paroxysmal hemicrania";312
"Trigeminal autonomic cephalalgia";64
"Neuroferritinopathy";62
"Pantothenate kinase-associated neurodegeneration";333
"HARP syndrome";6
"Huntington disease-like 1";5
"Huntington disease-like 3";0
"Combined immunodeficiency with skin granulomas";0
"ANE syndrome";4
"Oculoauricular syndrome, Schorderet type";0
"Ehlers-Danlos syndrome, spondylocheirodysplastic type";0
"Congenital muscular dystrophy due to LMNA mutation";0
"Non-Langerhans cell histiocytosis";1224
"Generalized eruptive histiocytosis";13
"Benign cephalic histiocytosis";27
"Systemic primary carnitine deficiency";10
"Distal monosomy 10p";0
"Juvenile xanthogranuloma";575
"Xanthoma disseminatum";79
"Papular xanthoma";17
"Necrobiotic xanthogranuloma";149
"Rosaï-Dorfman disease";661
"Indeterminate cell histiocytosis";25
"Progressive nodular histiocytosis";12
"Hereditary progressive mucinous histiocytosis";8
"Sea-blue histiocytosis";36
"Hemophagocytic syndrome";1225
"Primary hemophagocytic lymphohistiocytosis";30
"Secondary hemophagocytic lymphohistiocytosis";84
"Hemophagocytic syndrome associated with an infection";0
"Acquired hemophagocytic lymphohistiocytosis associated with malignant disease";0
"Macrophage activation syndrome";416
"Non-distal monosomy 10q";0
"Genetic dementia";3
"Huntington disease-like syndrome";3
"Rare genetic hematologic disease";0
"Suprabasal epidermolysis bullosa simplex";0
"Basal epidermolysis bullosa simplex";3
"Epidermolysis bullosa simplex due to plakophilin deficiency";0
"Acral dystrophic epidermolysis bullosa";0
"Dystrophic epidermolysis bullosa, nails only";0
"Epidermolysis bullosa simplex with circinate migratory erythema";0
"Epidermolysis bullosa simplex with pyloric atresia";0
"Lethal acantholytic epidermolysis bullosa";4
"Monosomy 13q14";0
"Typical urticaria pigmentosa";0
"Plaque-form urticaria pigmentosa";0
"Nodular urticaria pigmentosa";0
"Smouldering systemic mastocytosis";0
"Isolated bone marrow mastocytosis";2
"Lymphoadenopathic mastocytosis with eosinophilia";0
"Classic mast cell leukemia";0
"Aleukemic mast cell leukemia";3
"Carnitine-acylcarnitine translocase deficiency";31
"Distal monosomy 13q";0
"Distal monosomy 15q";0
"Distal monosomy 17q";0
"Monosomy 18p";42
"Blue cone monochromatism";39
"Castleman disease";582
"Monosomy 18q";16
"Cap polyposis";22
"1p36 deletion syndrome";65
"2q24 microdeletion syndrome";0
"Cataract-glaucoma syndrome";0
"Distal monosomy 3p";0
"3q13 microdeletion syndrome";0
"Isolated congenital nasal pyriform aperture stenosis";0
"Congenital nasal pyriform aperture stenosis with holoprosencephaly";0
"Isolated congenital auditory ossicle malformation";0
"Deletion 5q35";3
"Hereditary hyperferritinemia with congenital cataracts";0
"Non-syndromic cerebral malformation due to abnormal neuronal migration";0
"Subacute cutaneous lupus erythematosus";400
"Chronic cutaneous lupus erythematosus";96
"Rare bacterial infectious disease";0
"Rare viral disease";4
"Rare parasitic disease";32
"Rare mycosis";13
"Hb Bart's hydrops fetalis";76
"Distal monosomy 7q36";0
"Bile acid synthesis defect with cholestasis and malabsorption";0
"Maffucci syndrome";87
"Rare disorder related with pregnancy, childbirth and puerperium";0
"Spondyloepiphyseal dysplasia, Nishimura type";0
"Spondyloepiphyseal dysplasia, Cantu type";0
"Spondyloepiphyseal dysplasia, Reardon type";0
"Spondyloepiphyseal dysplasia tarda, Kohn type";0
"Spondyloepiphyseal dysplasia, MacDermot type";0
"Spondyloepiphyseal dysplasia, Byers type";0
"Cortical dysplasia-focal epilepsy syndrome";9
"Leukoencephalopathy-dystonia-motor neuropathy syndrome";0
"Hypotonia-cystinuria syndrome";12
"2p21 microdeletion syndrome";0
"Action myoclonus-renal failure syndrome";15
"Alveolar soft-tissue sarcoma";15
"Febrile infection-related epilepsy syndrome";31
"Cryptogenic late-onset epileptic spasms";0
"Benign familial mesial temporal lobe epilepsy";0
"Rolandic epilepsy-speech dyspraxia syndrome";0
"Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome";0
"Neurologic Waardenburg-Shah syndrome";0
"Limbic encephalitis";858
"Paraneoplastic limbic encephalitis";161
"Classic paraneoplastic limbic encephalitis";0
"Limbic encephalitis associated with antibodies to cell membrane antigens";0
"Limbic encephalitis with LGI1 antibodies";0
"Limbic encephalitis with nCMAgs antibodies";0
"Non-paraneoplastic limbic encephalitis";19
"Posttransplant acute limbic encephalitis";0
"Non-herpetic acute limbic encephalitis";31
"Pustulosis palmaris et plantaris";119
"Acrodermatitis continua suppurativa of Hallopeau";0
"Atopic keratoconjunctivitis";227
"X-linked intellectual disability, Najm type";0
"X-linked intellectual disability, Raymond type";0
"X-linked intellectual disability, Nascimento type";0
"X-linked cerebral-cerebellar-coloboma syndrome syndrome";0
"X-linked dominant chondrodysplasia, Chassaing-Lacombe type";0
"X-linked intellectual disability, Cilliers type";0
"X-linked intellectual disability, Van Esch type";0
"X-linked intellectual disability-craniofacioskeletal syndrome";0
"X-linked intellectual disability-spastic quadriparesis syndrome";0
"Hyperekplexia-epilepsy syndrome";0
"Developmental delay-deafness syndrome, Hildebrand type";0
"Rare odontal or periodontal disorder";0
"Middle ear anomaly";16
"Distal monosomy 9p";1
"Xp22.3 microdeletion syndrome";0
"Partial chromosome Y deletion";0
"Oculocerebrocutaneous syndrome";30
"Acute myeloid leukemia and myelodysplastic syndromes related to radiation";0
"Familial advanced sleep-phase syndrome";30
"Rare acquired aplastic anemia";0
"Neutral lipid storage disease";80
"Dent disease";94
"Dentin dysplasia";137
"Natal teeth-intestinal pseudoobstruction-patent ductus syndrome";0
"Müllerian derivatives-lymphangiectasia-polydactyly syndrome";0
"Dermatitis herpetiformis";1258
"Rare genetic gastroenterological disease";0
"Genetic intestinal disease";0
"Genetic gastro-esophageal disease";0
"Genetic pancreatic disease";0
"Dermatoosteolysis, Kirghizian type";0
"Non-syndromic urogenital tract malformation";0
"Syndromic urogenital tract malformation";0
"Rare abdominal surgical disease";0
"Absence of fingerprints-congenital milia syndrome";0
"Familial mesial temporal lobe epilepsy with febrile seizures";0
"Dermatoleukodystrophy";1
"Wound myiasis";27
"Cavitary myiasis";0
"Diazoxide-sensitive diffuse hyperinsulinism";0
"Diazoxide-resistant diffuse hyperinsulinism";0
"Exercise-induced hyperinsulinism";5
"Selective pituitary resistance to thyroid hormone";0
"Charcot-Marie-Tooth disease";2856
"Dermo-odonto dysplasia";0
"Multiple epiphyseal dysplasia due to collagen 9 anomaly";0
"Multiple epiphyseal dysplasia, Beighton type";0
"Multiple epiphyseal dysplasia, Lowry type";0
"Multiple epiphyseal dysplasia, Al-Gazali type";0
"Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia";0
"Multiple epiphyseal dysplasia, with miniepiphyses";0
"Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome";0
"Metaphyseal chondrodysplasia, Kaitila type";0
"Pontocerebellar hypoplasia type 4";1
"Pontocerebellar hypoplasia type 5";0
"Pontocerebellar hypoplasia type 6";11
"Von Willebrand disease type 1";91
"Von Willebrand disease type 2";101
"Von Willebrand disease type 2A";16
"Von Willebrand disease type 2B";12
"Von Willebrand disease type 2M";5
"Von Willebrand disease type 2N";13
"Von Willebrand disease type 3";56
"X-linked corneal dermoid";0
"Stickler syndrome type 3";0
"FASTKD2-related infantile mitochondrial encephalomyopathy";0
"Intellectual disability, Birk-Barel type";0
"Bazex syndrome";55
"Isolated osteopoikilosis";0
"Restrictive dermopathy";84
"Dentinogenesis imperfecta type 2";0
"Dentinogenesis imperfecta type 3";0
"Odontochondrodysplasia";2
"Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia";0
"Familial sick sinus syndrome";12
"Porokeratotic eccrine ostial and dermal duct nevus";29
"Dirofilariasis";559
"Benign non-familial infantile seizures";0
"Benign partial epilepsy of infancy with complex partial seizures";0
"Benign partial epilepsy with secondarily generalized seizures in infancy";0
"Benign infantile seizures associated with mild gastroenteritis";0
"Benign infantile focal epilepsy with midline spikes and wave during sleep";0
"Benign partial infantile seizures";0
"Embryonary disorganization syndrome";0
"Photosensitive epilepsy";173
"Hot water reflex epilepsy";0
"Audiogenic seizures";64
"Eating seizures";11
"Orgasm-induced seizures";2
"Thinking seizures";0
"Startle epilepsy";41
"Micturation-induced seizures";0
"Reading seizures";0
"Epilepsy syndrome";823
"Neurocutaneous syndrome with epilepsy";0
"Chromosomal anomaly with epilepsy as a major feature";0
"Monogenic disease with epilepsy";0
"Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes";0
"Cerebral malformation with epilepsy";0
"Metabolic diseases with epilepsy";0
"Inflammatory and autoimmune disease with epilepsy";0
"Cerebral diseases of vascular origin with epilepsy";0
"Infectious disease with epilepsy";0
"Sporadic fetal brain disruption sequence";0
"Dextrocardia";845
"Wolcott-Rallison syndrome";63
"Rare hemorrhagic disorder due to an acquired coagulation factor defect";0
"Chédiak-Higashi syndrome";508
"Chronic diarrhea with villous atrophy";0
"Diastematomyelia";336
"Diencephalic syndrome";106
"Digitorenocerebral syndrome";6
"Dihydropyrimidine dehydrogenase deficiency";141
"Idiopathic pulmonary artery dilatation";4
"Scleromyxedema";235
"Familial idiopathic dilatation of the right atrium";0
"Unclassified acute myeloid leukemia";0
"Hereditary dentin defect";0
"Rare disease with dentinogenesis imperfecta";0
"Dincsoy-Salih-Patel syndrome";0
"Cardiomyopathy";42197
"Diphtheria";7323
"Loose anagen syndrome";22
"Diprosopus";46
"Rare cardiac tumor";41
"Arterial dissection-lentiginosis syndrome";0
"Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome";0
"Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome";0
"Spondyloepimetaphyseal dysplasia, Bieganski type";0
"Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome";0
"Spondyloepimetaphyseal dysplasia, Geneviève type";0
"Congenital neuronal ceroid lipofuscinosis";5
"Late infantile neuronal ceroid lipofuscinosis";180
"Distomatosis";35
"Spondylometaphyseal dysplasia, Golden type";0
"Axial spondylometaphyseal dysplasia";5
"Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome";0
"Spondylometaphyseal dysplasia, A4 type";0
"46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency syndrome";0
"46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome";0
"Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3";0
"H syndrome";61
"Native American myopathy";3
"Hereditary cryohydrocytosis with reduced stomatin";0
"Hereditary North American Indian childhood cirrhosis";0
"Hyperandrogenism due to cortisone reductase deficiency";0
"Sudden infant death-dysgenesis of the testes syndrome";0
"Brain demyelination due to methionine adenosyltransferase deficiency";0
"Cardiac diverticulum";23
"Congenital enteropathy due to enteropeptidase deficiency";0
"Seborrhea-like dermatitis with psoriasiform elements";2
"Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure";0
"Congenital deficiency in alpha-fetoprotein";0
"Hereditary persistence of alpha-fetoprotein";0
"Dysplasia of head of femur, Meyer type";0
"Familial scaphocephaly syndrome, McGillivray type";0
"Autosomal thrombocytopenia with normal platelets";0
"Generalized basaloid follicular hamartoma syndrome";3
"Rare pervasive developmental disorder";4
"Childhood disintegrative disorder";61
"Heart-hand syndrome, Slovenian type";0
"Primary peritoneal tumor";15
"Primary malignant peritoneal tumor";1
"Malignant peritoneal mesothelioma";328
"Peritoneal cystic mesothelioma";17
"Primary peritoneal carcinoma";234
"Chronic eosinophilic leukemia";174
"Myeloid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB or FGFR1";0
"Myeloid neoplasm associated with PDGFRA rearrangement";0
"Myeloid neoplasm associated with PDGFRB rearrangement";0
"Myeloid neoplasm associated with FGFR1 rearrangement";0
"Hypereosinophilic syndrome";1502
"Refractory anemia with excess blasts in transformation";108
"Composite lymphoma";146
"Kahrizi syndrome";0
"CLAPO syndrome";0
"Malignant melanoma of the mucosa";0
"Ringed hair disease";0
"Cernunnos-XLF deficiency";2
"Combined immunodeficiency due to CD3gamma deficiency";0
"Susceptibility to respiratory infections associated with CD8alpha chain mutation";0
"Combined immunodeficiency due to CRAC channel dysfunction";0
"Alymphoid cystic thymic dysgenesis";0
"Immunodeficiency due to CD25 deficiency";0
"Good syndrome";41
"Immunoglobulin heavy chain deficiency";0
"Transient hypogammaglobulinemia of infancy";46
"Recurrent infection due to specific granule deficiency";0
"Immunodeficiency due to a classical component pathway complement deficiency";0
"Immunodeficiency due to a late component of complement deficiency";0
"T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency";0
"T-B+ severe combined immunodeficiency due to CD45 deficiency";0
"T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta";0
"Familial scaphocephaly syndrome";0
"Autosomal recessive centronuclear myopathy";6
"Autosomal dominant centronuclear myopathy";24
"Mosaic trisomy 1";0
"DNA repair defect other than combined T-cell and B-cell immunodeficiencies";0
"Immuno-osseous dysplasia";65
"Immunodeficiency syndrome with autoimmunity";0
"Immune dysregulation disease with immunodeficiency";0
"Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells";0
"Primary CD59 deficiency";0
"Recurrent Neisseria infections due to factor D deficiency";0
"Non-distal trisomy 10q";0
"Idiopathic central precocious puberty";104
"Secondary central precocious puberty";4
"Severe hemophilia B";117
"Moderately severe hemophilia B";7
"Mild hemophilia B";20
"Mosaic trisomy 12";6
"Severe hemophilia A";487
"Moderately severe hemophilia A";12
"Mild hemophilia A";131
"Congenital vitamin K-dependent coagulation factors deficiency";0
"Trisomy 12p";51
"Fatal infantile lactic acidosis with methylmalonic aciduria";0
"Woolly hair";140
"Non-distal trisomy 13q";0
"Mosaic trisomy 14";15
"Distal trisomy 14q";5
"Mosaic trisomy 15";17
"Distal trisomy 15q";0
"Mosaic trisomy 16";34
"Primary sclerosing cholangitis";3113
"Mosaic trisomy 17";6
"High anorectal malformation";48
"Intermediate anorectal malformation";8
"Low anorectal malformation";21
"Rectal duplication";78
"17p11.2 microduplication syndrome";0
"Severe congenital nemaline myopathy";6
"Intermediate nemaline myopathy";0
"Typical nemaline myopathy";3
"Childhood-onset nemaline myopathy";1
"Adult-onset nemaline myopathy";21
"Muscle filaminopathy";0
"Trisomy 18p";64
"Distal trisomy 18q";0
"X-linked spastic paraplegia type 34";0
"Autosomal dominant spastic paraplegia type 37";0
"Autosomal dominant spastic paraplegia type 38";0
"Autosomal recessive spastic paraplegia type 32";0
"Autosomal recessive spastic paraplegia type 35";0
"Limbal stem cell deficiency";474
"Periventricular leukomalacia";2010
"Lissencephaly due to TUBA1A mutation";0
"Idiopathic bilateral vestibulopathy";11
"Metabolic myopathy due to lactate transporter defect";0
"Parkinsonian-pyramidal syndrome";9
"Distal trisomy 19q";2
"Diffuse panbronchiolitis";486
"Microcephaly-polymicrogyria-corpus callosum agenesis syndrome";0
"Short stature-delayed bone age due to thyroid hormone metabolism deficiency";0
"Male infertility due to globozoospermia";0
"Amish infantile epilepsy syndrome";6
"Cutis laxa-Marfanoid syndrome";0
"White sponge nevus";64
"6q16 deletion syndrome";0
"Amelogenesis imperfecta-gingival hyperplasia syndrome";0
"Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome";0
"Blindness-scoliosis-arachnodactyly syndrome";0
"Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome";0
"MEDNIK syndrome";7
"Intellectual disability-cataracts-kyphosis syndrome";0
"Autosomal dominant spastic paraplegia type 42";0
"Spondyloepimetaphyseal dysplasia, aggrecan type";0
"Renal pseudohypoaldosteronism type 1";0
"Generalized pseudohypoaldosteronism type 1";0
"Cap myopathy";15
"Cylindrical spirals myopathy";0
"Myopathy with hexagonally cross-linked tubular arrays";0
"Myeloid hemopathy";0
"Lymphoid hemopathy";4
"Primary cutaneous T-cell lymphoma";150
"B-cell non-Hodgkin lymphoma";822
"T-cell non-Hodgkin lymphoma";99
"Trisomy 10p";50
"Progressive familial intrahepatic cholestasis";323
"Mosaic trisomy 2";10
"Mosaic trisomy 20";23
"22q11.2 microduplication syndrome";21
"Congenital myopathy with protein accumulation";0
"Congenital myopathy with cores";0
"Congenital myopathy with central nuclei";0
"Congenital myopathy with fiber size variation";0
"Congenital myopathy with vacuoles";0
"Cholera";7741
"Trisomy 4p";49
"Metaphyseal chondrodysplasia, Schmid type";1
"Trisomy 5p";27
"Distal trisomy 6p";0
"Congenital hypogonadotropic hypogonadism";75
"Mosaic trisomy 7";16
"Cartilage-hair hypoplasia";151
"Trisomy 8q";34
"Caudal duplication";32
"Fibular dimelia-diplopodia syndrome";0
"Thoraco-abdominal enteric duplication";0
"Non-rhizomelic chondrodysplasia punctata";2
"Trisomy Xq28";0
"Familial dysautonomia";435
"Dyschondrosteosis-nephritis syndrome";0
"Dysequilibrium syndrome";43
"Familial progressive vestibulocochlear dysfunction";2
"Familial caudal dysgenesis";1
"Rhizomelic chondrodysplasia punctata";205
"XY type gonadal dysgenesis-associated anomalies syndrome";0
"Rare adult hypothyroidism";0
"Syndromic hypothyroidism";0
"45,X/46,XY mixed gonadal dysgenesis";0
"Sacrococcygeal dysgenesis association";1
"Dyskeratosis congenita";637
"Temtamy syndrome";3
"Facial dysmorphism-shawl scrotum-joint laxity syndrome";0
"Dysmorphism-cleft palate-loose skin syndrome";0
"Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1";0
"Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2";0
"Prader-Willi syndrome due to translocation";0
"Prader-Willi syndrome due to imprinting mutation";0
"Symptomatic form of hemophilia A in female carriers";0
"Symptomatic form of hemophilia B in female carriers";0
"Chordoma";2418
"Thakker-Donnai syndrome";3
"Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations";0
"Central diabetes insipidus";730
"Peripheral precocious puberty";78
"Transient congenital hypothyroidism";45
"Moderate multiminicore disease with hand involvement";0
"Antenatal multiminicore disease with arthrogryposis multiplex congenita";0
"Dysosteosclerosis";12
"8q22.1 microdeletion syndrome";0
"Reticulate acropigmentation of Kitamura";20
"Isolated sternocostoclavicular hyperostosis";0
"Undifferentiated embryonal sarcoma of the liver";93
"Acute lung injury";5647
"Heinz body anemia";10
"Åland Islands eye disease";0
"UV-sensitive syndrome";22
"Inflammatory myofibroblastic tumor";651
"Aromatase excess syndrome";14
"Smith-McCort dysplasia";9
"Syndromic microphthalmia type 5";0
"Osteosclerosis-developmental delay-craniosynostosis syndrome";0
"Congenital vertical talus";89
"Osteopetrosis-hypogammaglobulinemia syndrome";0
"Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation";0
"Acrofrontofacionasal dysostosis";0
"Distal myopathy with anterior tibial onset";0
"X-linked myopathy with postural muscle atrophy";0
"Hereditary proximal myopathy with early respiratory failure";0
"Autosomal dominant non-syndromic intellectual disability";0
"Wound botulism";87
"Infant botulism";235
"Intestinal botulism";8
"Adult intestinal botulism";2
"Myopic macular degeneration";36
"Dursun syndrome";2
"Brain calcification, Rajab type";0
"Perry syndrome";22
"Folliculotropic mycosis fungoides";45
"Localized pagetoid reticulosis";8
"Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma";0
"Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma";0
"Primary cutaneous gamma/delta-positive T-cell lymphoma";0
"Primary cutaneous marginal zone B-cell lymphoma";55
"Primary cutaneous follicle center lymphoma";61
"Primary cutaneous diffuse large B-cell lymphoma, leg type";20
"Indolent primary cutaneous T-cell lymphoma";4
"Aggressive primary cutaneous T-cell lymphoma";2
"Aggressive primary cutaneous B-cell lymphoma";0
"Indolent primary cutaneous B-cell lymphoma";4
"Primary cutaneous B-cell lymphoma";170
"Mycosis fungoides and variants";0
"Acrofacial dysostosis, Catania type";0
"Acrofacial dysostosis, Palagonia type";0
"Acrofacial dysostosis, Rodríguez type";0
"Acquired neutropenia";18
"Birdshot chorioretinopathy";141
"Hypomandibular faciocranial dysostosis";5
"Primary immunodeficiency due to a defect in adaptive immunity";0
"Frontofacionasal dysplasia";7
"Humerospinal dysostosis";0
"Oculomaxillofacial dysostosis";9
"Obesity due to congenital leptin resistance";0
"Obesity due to leptin receptor gene deficiency";0
"Peripheral dysostosis";25
"Autosomal dominant spondylocostal dysostosis";0
"Dysostosis, Stanescu type";0
"Familial developmental dysphasia";0
"Distal renal tubular acidosis";604
"Choroideremia";281
"Uterovaginal malformation";2
"Non-syndromic uterovaginal malformation";0
"Partial bilateral aplasia of the Müllerian ducts";0
"Unilateral aplasia of the Müllerian ducts";0
"True unicornuate uterus";1
"Pseudounicornuate uterus";0
"Didelphys uterus";30
"Kyphomelic dysplasia";18
"Bicervical bicornuate uterus and blind hemivagina";0
"Bicervical bicornuate uterus with patent cervix and vagina";0
"Unicervical bicornuate uterus";0
"Cordiform uterus";0
"Septate uterus";302
"Complete septate uterus";32
"Partial septate uterus";9
"Bicornuate uterus";277
"Uterine hypoplasia";25
"Agenesis and aplasia of uterine body";0
"Uterine cervical aplasia and agenesis";0
"Syndromic uterovaginal malformation";0
"Rare vaginal malformation";0
"Septate vagina";26
"Longitudinal vaginal septum";59
"Transverse vaginal septum";75
"Rare breast malformation";0
"Excess breast volume or number";0
"Deficient breast volume or number";0
"Familial juvenile hypertrophy of the breast";0
"Supernumerary breasts";12
"Isolated congenital breast hypoplasia/aplasia";0
"Syndromic breast hypoplasia/aplasia";0
"Rare non-malformative gynecologic or obstetric disease";0
"Ghosal hematodiaphyseal dysplasia";6
"Rare non-malformative breast disease";0
"Rare non-malformative uterovaginal or vulvovaginal disease";0
"Anomaly of puberty or/and menstrual cycle";0
"Rare uterine adnexal tumor";0
"Embryonal carcinoma";2454
"Polyembryoma";32
"Mixed germ cell tumor";282
"Benign tumor of fallopian tubes";0
"Malignant tumor of fallopian tubes";0
"Vaginal carcinoma";205
"Rare breast tumor";29
"Rare benign breast tumor";0
"Rare malignant breast tumor";0
"Phyllode tumor";20
"Giant adenofibroma of the breast";0
"Paget disease of the nipple";0
"Benign ductal tumor of breast";0
"Thoracomelic dysplasia";0
"Rare non-malformative uterine adnexal disease";0
"Rare vulvovaginal tumor";0
"Dyssegmental dysplasia-glaucoma syndrome";0
"Ectodermal dysplasia-blindness syndrome";0
"Focal facial dermal dysplasia type III";0
"Malformative syndrome with dentinogenesis imperfecta";0
"Rare disease with autism";0
"Non-syndromic diaphragmatic or thoracic malformation";0
"Syndromic diaphragmatic or thoracic malformation";0
"Hidrotic ectodermal dysplasia, Christianson-Fourie type";0
"Rare gastroesophageal tumor";0
"Rare tumor of pancreas";0
"Hidrotic ectodermal dysplasia, Halal type";0
"X-linked hypohidrotic ectodermal dysplasia";111
"Autosomal dominant hypohidrotic ectodermal dysplasia";3
"Odontomicronychial dysplasia";0
"Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome";0
"Rare insulin-resistance syndrome";0
"Rare diabetes mellitus type 1";0
"Rare diabetes mellitus type 2";0
"Other rare diabetes mellitus";0
"Rare hypothalamic or pituitary disease";0
"Rare disorder with hypogonadotropic hypogonadism";0
"Hypogonadotropic hypogonadism associated with other endocrinopathies";0
"Growth hormone insensitivity syndrome";54
"Rare hypothyroidism";0
"Rare hyperthyroidism";0
"Syndrome with hypoparathyroidism";0
"Rare hypoparathyroidism";0
"Rare hyperparathyroidism";0
"Adrenogenital syndrome";247
"Rare primary hyperaldosteronism";0
"Rare hypoaldosteronism";0
"Rare hyperlipidemia";0
"Major hypertriglyceridemia";7
"Hyperalphalipoproteinemia";123
"Rare hypolipidemia";0
"Rare syndromic dyslipidemia";0
"Rare disorder with hypergonadotropic hypogonadism";0
"Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome";0
"Ectodermal dysplasia, trichoodontoonychial type";0
"Epimetaphyseal skeletal dysplasia";0
"Chromomycosis";152
"Aplastic anemia";7502
"Rare constitutional hemolytic anemia";0
"Rare acquired hemolytic anemia";0
"MYH9-related disease";43
"Rare thrombotic disease of hematologic origin";0
"Primary orthostatic hypotension";13
"Cerebellar malformation";67
"Rare neuroinflammatory or neuroimmunological disease";0
"Glial tumor";390
"Rare neurodegenerative disease";61
"Syndromic neurometabolic disease with non-X-linked intellectual disability";0
"Syndromic neurometabolic disease with X-linked intellectual disability";0
"ARX-related epileptic encephalopathy";0
"Channelopathy with epilepsy";0
"Acquired peripheral neuropathy";9
"Pulmonary arterial hypertension";5953
"Interstitial lung disease";5122
"Pneumoconiosis";2461
"Idiopathic eosinophilic pneumonia";21
"Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease";0
"Thoracic malformation";16
"Respiratory malformation";0
"Rare urogenital tumor";0
"Non-syndromic urogenital tract malformation of female";0
"Non-syndromic urogenital tract malformation of male";0
"Non-syndromic urogenital tract malformation of male and female";0
"Extragonadal germinoma";0
"Tumor of endocrine glands";0
"Dysplasia epiphysealis hemimelica";100
"Rare inflammatory eye disease";0
"Rare systemic disease";86
"Systemic autoimmune disease";908
"Rare rheumatologic disease";2
"Lowry-Wood syndrome";5
"Epiphyseal dysplasia-hearing loss-dysmorphism syndrome";0
"Frontometaphyseal dysplasia";44
"Acromelic frontonasal dysplasia";2
"Eosinophilic granulomatosis with polyangiitis";225
"Schimke immuno-osseous dysplasia";59
"De Hauwere syndrome";3
"Lethal osteosclerotic bone dysplasia";7
"Axial mesodermal dysplasia spectrum";9
"Polymalformative genetic syndrome with increased risk of developing cancer";0
"Genetic epidermal disorder";0
"Inherited ichthyosis";24
"Genetic erythrokeratoderma";0
"Genetic acrokeratoderma";0
"Genetic porokeratosis";0
"Genetic epidermal appendage anomaly";0
"Genetic hair anomaly";0
"Genetic nail anomaly";0
"Genetic sebaceous gland anomaly";0
"Genetic pigmentation anomaly of the skin";0
"Genetic hyperpigmentation of the skin";0
"Genetic hypopigmentation of the skin";0
"Genetic dermis disorder";0
"Genetic skin vascular disorder";0
"Genetic mixed dermis disorder";0
"Genetic subcutaneous tissue disorder";0
"Genetic skin tumor";0
"Genetic photodermatosis";0
"Genetic immune deficiency with skin involvement";0
"Genetic neuromuscular disease";9
"Genetic neurodegenerative disease";15
"Genetic central nervous system and retinal vascular disease";0
"Genetic central nervous system malformation";0
"Rare genetic headache";0
"Rare genetic epilepsy";2
"Rare genetic medullar disease";0
"Rare hereditary ataxia";0
"Rare genetic movement disorder";0
"Rare genetic bone disease";3
"Genetic bone tumor";0
"Rare genetic developmental defect during embryogenesis";0
"Genetic multiple congenital anomalies/dysmorphic syndrome";0
"Genetic congenital limb malformation";0
"Genetic renal or urinary tract malformation";0
"Genetic cranial malformation";0
"Genetic digestive tract malformation";0
"Genetic visceral malformation of the liver, biliary tract, pancreas or spleen";0
"Genetic respiratory or mediastinal malformation";0
"Genetic developmental defect of the eye";0
"Genetic malformation syndrome with short stature";0
"Genetic overgrowth/obesity syndrome";0
"Genetic branchial arch or oral-acral syndrome";0
"Genetic malformation syndrome with odontal and/or periodontal component";0
"Genetic head and neck malformation";0
"Genetic glomerular disease";0
"Genetic thrombotic microangiopathy";0
"Genetic renal tubular disease";0
"Genetic renal tumor";0
"Rare genetic palpebral, lacrimal system and conjunctival disease";0
"Mesomelic dysplasia, Kantaputra type";1
"Rare genetic refraction anomaly";0
"Genetic lens and zonula anomaly";0
"Genetic neuro-ophthalmological disease";0
"Genetic eye tumor";0
"Genetic respiratory malformation";0
"Rare genetic diabetes mellitus";0
"Rare genetic hypothalamic or pituitary disease";0
"Rare genetic thyroid disease";0
"Rare genetic parathyroid disease and phosphocalcic metabolism disorder";0
"Rare genetic adrenal disease";0
"Genetic polyendocrinopathy";0
"Rare constitutional anemia";0
"Rare genetic coagulation disorder";0
"Severe combined immunodeficiency";4039
"Hyper-IgM syndrome with susceptibility to opportunistic infections";0
"Hyper-IgM syndrome without susceptibility to opportunistic infections";0
"Agammaglobulinemia";2730
"Recurrent infections associated with rare immunoglobulin isotypes deficiency";0
"Hermansky-Pudlak syndrome with neutropenia";0
"Functional neutrophil defect";1
"Ulna metaphyseal dysplasia syndrome";0
"Neutrophil immunodeficiency syndrome";0
"Genetic susceptibility to infections due to particular pathogens";0
"Pyogenic bacterial infections due to MyD88 deficiency";0
"Other complex syndrome of primary immunodeficiency";0
"Rare genetic gynecological and obstetrical diseases";0
"Genetic gynecological tumor";0
"Rare genetic intellectual disability";0
"Rare genetic syndromic intellectual disability";0
"Rare genetic immune disease";0
"Metaphyseal dysplasia without hypotrichosis";0
"Hereditary mucoepithelial dysplasia";12
"Cherubism";226
"Bone dysplasia, lethal Holmgren type";0
"Bone dysplasia, Azouz type";0
"Renal agenesis, bilateral";0
"Infundibulopelvic stenosis-multicystic kidney syndrome";0
"Scimitar syndrome";467
"Renal dysplasia-megalocystis-sirenomelia syndrome";0
"Multicystic dysplastic kidney";527
"X-linked retinal dysplasia";0
"Spondyloenchondrodysplasia";33
"Spondyloperipheral dysplasia-short ulna syndrome";0
"Skeletal dysplasia-epilepsy-short stature syndrome";0
"Primary biliary cholangitis";81
"Thanatophoric dysplasia type 1";10
"Thoracic dysplasia-hydrocephalus syndrome";0
"Congenital valvular dysplasia";2
"Dyssegmental dysplasia, Silverman-Handmaker type";4
"Focal, segmental or multifocal dystonia";0
"Bullous dystrophy, macular type";0
"Citrullinemia";336
"Progressive cone dystrophy";54
"Cone rod dystrophy";416
"Jalili syndrome";10
"Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome";0
"Oculogastrointestinal muscular dystrophy";1
"Muscular dystrophy-white matter spongiosis syndrome";0
"Autosomal recessive limb-girdle muscular dystrophy type 2H";0
"Melorheostosis with osteopoikilosis";0
"Systemic capillary leak syndrome";113
"Ebstein malformation";25
"Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome";0
"Ectodermal dysplasia-sensorineural deafness syndrome";0
"Ectopia lentis-chorioretinal dystrophy-myopia syndrome";0
"Isolated ectopia lentis";27
"Ectrodactyly-ectodermal dysplasia without clefting syndrome";0
"Ectrodactyly-cleft palate syndrome";0
"Hidrotic ectodermal dysplasia";64
"Intellectual disability-spasticity-ectrodactyly syndrome";0
"Ectrodactyly-polydactyly syndrome";0
"Ectrodactyly-spina bifida-cardiopathy syndrome";0
"Cushing syndrome due to macronodular adrenal hyperplasia";0
"Primary pigmented nodular adrenocortical disease";143
"Familial isolated hypoparathyroidism due to impaired PTH secretion";0
"Edinburgh malformation syndrome";0
"EEC syndrome";138
"EEM syndrome";8
"Ehlers-Danlos syndrome, arthrochalasis type";0
"2-hydroxyglutaric aciduria";138
"Coats disease";319
"Ehlers-Danlos syndrome, kyphoscoliotic type";0
"Ehlers-Danlos syndrome, dermatosparaxis type";1
"Ehrlichiosis";1066
"Fetal valproate syndrome";43
"Aminopterin/methotrexate embryofetopathy";0
"Indomethacin embryofetopathy";0
"Cockayne syndrome";860
"Fetal iodine syndrome";0
"Cocaine embryofetopathy";0
"Fetal hydantoin syndrome";59
"Fetal trimethadione syndrome";3
"Vitamin K-antagonist embryofetopathy";0
"Fetal alcohol syndrome";1276
"Diethylstilbestrol syndrome";0
"Fetal methylmercury syndrome";0
"Fetal minoxidil syndrome";0
"Phenobarbital embryopathy";0
"Coffin-Lowry syndrome";150
"Toluene embryopathy";6
"Methimazole embryofetopathy";0
"Diabetic embryopathy";77
"Emery-Nelson syndrome";0
"Congenital lobar emphysema";224
"Rasmussen subacute encephalitis";1
"Cohen syndrome";124
"Herpes simplex encephalitis";1342
"Frontal encephalocele";25
"Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria";0
"Early infantile epileptic encephalopathy";123
"Early myoclonic encephalopathy";68
"Eng-Strom syndrome";0
"Ocular coloboma";91
"Shoulder and thorax deformity-congenital heart disease syndrome";0
"Juvenile absence epilepsy";134
"Myoclonic-astastic epilepsy";0
"Infant epilepsy with migrant focal crisis";0
"Rolandic epilepsy";594
"Amelocerebrohypohidrotic syndrome";0
"Progressive epilepsy-intellectual disability syndrome, Finnish type";0
"Epilepsy-microcephaly-skeletal dysplasia syndrome";0
"Benign familial neonatal epilepsy";16
"Cat-eye syndrome";132
"Epilepsy-telangiectasia syndrome";0
"Pacman dysplasia";4
"Congenital lethal erythroderma";0
"Spinocerebellar ataxia type 34";0
"Erythromelalgia";445
"Esthesioneuroblastoma";706
"Evans syndrome";326
"Exostoses-anetodermia-brachydactyly type E syndrome";0
"Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome";0
"Flat face-microstomia-ear anomaly syndrome";0
"Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome";0
"Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome";0
"Lethal faciocardiomelic dysplasia";0
"Faciocardiorenal syndrome";1
"Autosomal recessive faciodigitogenital syndrome";2
"Lipodystrophy due to peptidic growth factors deficiency";0
"Occipital horn syndrome";60
"Bilateral striopallidodentate calcinosis";12
"Fanconi syndrome-ichthyosis-dysmorphism syndrome";0
"Fechtner syndrome";46
"Gollop-Wolfgang complex";13
"Femoral agenesis/hypoplasia";0
"Femoral-facial syndrome";22
"Cornelia de Lange syndrome";375
"Cleft lip with or without cleft palate";733
"Pulmonary capillary hemangiomatosis";74
"Nelson syndrome";295
"Corticosteroid-binding globulin deficiency";6
"Ledderhose disease";18
"Superficial fibromatosis";15
"Calcified aponeurotic fibroma";1
"Infantile digital fibromatosis";57
"Familial multiple lipomatosis";27
"Familial angiolipomatosis";7
"Harlequin syndrome";45
"Hereditary hypercarotenemia and vitamin A deficiency";0
"Congenital microgastria";17
"Congenital isolated ACTH deficiency";5
"Late-onset isolated ACTH deficiency";0
"Pai syndrome";24
"Isolated cleft lip";183
"Cleft lip/palate";567
"Tetragametic chimerism";8
"Familial clubfoot with or without associated lower limb anomalies";0
"15q13.3 microdeletion syndrome";31
"Endophthalmitis";5193
"Isolated autosomal dominant hypomagnesemia, Glaudemans type";0
"Congenital myopathy, Paradas type";0
"Endocrine-cerebro-osteodysplasia syndrome";1
"Pancreatic insufficiency-anemia-hyperostosis syndrome";0
"Muscular dystrophy, Selcen type";0
"EAST syndrome";15
"Thiamine-responsive encephalopathy";0
"Adult-onset dystonia-parkinsonism";7
"CARASIL";49
"Cleft lip-retinopathy syndrome";0
"Atypical autism";81
"Isolated cerebellar vermis hypoplasia";0
"Cerebral malformation";127
"Syndrome with corpus callosum agenesis /dysgenesis as a major feature";0
"Isolated congenital microcephaly";0
"Isolated encephalocele";0
"Blepharo-cheilo-odontic syndrome";0
"3-hydroxy-3-methylglutaric aciduria";48
"Paroxysmal dystonia";190
"Cleft lip/palate-intestinal malrotation-cardiopathy syndrome";0
"Cleft lip/palate-deafness-sacral lipoma syndrome";0
"Laryngotracheoesophageal cleft";57
"Immunodeficiency with factor I anomaly";0
"Immunodeficiency with factor H anomaly";0
"Median cleft lip/mandibule";0
"Alar cartilages hypoplasia-coloboma-telecanthus syndrome";0
"Acrocardiofacial syndrome";0
"Cowden syndrome";370
"Cleft palate-stapes fixation-oligodontia syndrome";0
"Cleft palate-large ears-small head syndrome";0
"Cleft palate";11681
"Cleft palate-short stature-vertebral anomalies syndrome";0
"Cleft palate-lateral synechia syndrome";6
"Sternal cleft";108
"Femur-fibula-ulna complex";3
"Crandall syndrome";0
"Congenital fiber-type disproportion myopathy";15
"Fibrochondrogenesis";34
"Endomyocardial fibroelastosis";11
"Undifferentiated pleomorphic sarcoma";181
"Hereditary gingival fibromatosis";100
"Gingival fibromatosis-facial dysmorphism syndrome";0
"Gingival fibromatosis-hypertrichosis syndrome";0
"Gingival fibromatosis-progressive deafness syndrome";0
"Juvenile hyaline fibromatosis";100
"Multiple non-ossifying fibromatosis";0
"Anomaly of puberty or/and menstrual cycle of genetic origin";0
"Syndromic microphthalmia";8
"Fibrosarcoma";6067
"Hepatic fibrosis-renal cysts-intellectual disability syndrome";0
"Idiopathic pulmonary fibrosis";4383
"Multifocal muscular fibrosis-obstructed vessels syndrome";0
"Filariasis";3823
"Lymphatic filariasis";1496
"Scalp-ear-nipple syndrome";6
"Congenital aortopulmonary window";1
"Pulmonary arteriovenous malformation";286
"Congenital systemic arteriovenous fistula";1
"Sporadic Creutzfeldt-Jakob disease";610
"Congenital bronchobiliary fistula";13
"Coronary arterial fistulas";24
"Tracheo-esophageal fistula-hypospadias syndrome";0
"Floating-Harbor syndrome";49
"FLOTCH syndrome";1
"Flynn-Aird syndrome";0
"Foix-Chavany-Marie syndrome";47
"Crigler-Najjar syndrome";312
"Cole-Carpenter syndrome";6
"Fraser-like syndrome";0
"Fraser syndrome";114
"Freeman-Sheldon syndrome";99
"Osteochondritis of tarsal/metatarsal bone";0
"Growth deficiency-brachydactyly-dysmorphism syndrome";0
"Essential fructosuria";9
"Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome";0
"Fryns-Smeets-Thiry syndrome";0
"Fryns syndrome";111
"Fukuda-Miyanomae-Nakata syndrome";0
"Progressive non-infectious anterior vertebral fusion";3
"Splenogonadal fusion-limb defects-micrognathia syndrome";0
"Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome";0
"Hypoxanthine-guanine phosphoribosyltransferase deficiency";60
"Infantile Krabbe disease";36
"Late-infantile/juvenile Krabbe disease";0
"Adult Krabbe disease";2
"Serous or mucinous cystadenoma of childhood";0
"Borderline epithelial tumor of ovary";0
"Gonadoblastoma";558
"Vaginal germ cell malignant tumor";0
"Vulvovaginal rhabdomyosarcoma";2
"Galloway-Mowat syndrome";31
"Malignant non-dysgerminomatous germ cell tumor of ovary";0
"Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers";0
"Autosomal recessive limb-girdle muscular dystrophy type 2L";0
"Autosomal recessive limb-girdle muscular dystrophy type 2M";0
"Autosomal recessive limb-girdle muscular dystrophy type 2N";0
"Autosomal recessive limb-girdle muscular dystrophy type 2O";0
"Immune-mediated necrotizing myopathy";46
"Overlap myositis";32
"Rippling muscle disease with myasthenia gravis";0
"Autosomal recessive lower motor neuron disease with childhood onset";0
"Adult polyglucosan body disease";61
"Neurolymphomatosis";100
"Subacute inflammatory demyelinating polyneuropathy";4
"Isolated asymptomatic elevation of creatine phosphokinase";0
"Gamma-aminobutyric acid transaminase deficiency";2
"Infectious disease with peripheral neuropathy";0
"Genetic skeletal muscle disease";0
"Acquired skeletal muscle disease";0
"Progressive muscular dystrophy";383
"Myotonic dystrophy";3700
"Autosomal dominant distal myopathy";31
"Autosomal recessive distal myopathy";13
"Non-dystrophic myopathy";0
"Non-dystrophic myopathy with collagen 6 anomaly";0
"Inclusion myopathy";6
"GAPO syndrome";31
"Bulbospinal muscular atrophy";39
"Bulbospinal muscular atrophy of childhood";0
"Bulbospinal muscular atrophy of adult";0
"Generalized bulbospinal muscular atrophy";0
"Gastrocutaneous syndrome";0
"Muscular lipidosis";2
"Muscular glycogenosis";8
"Mitochondrial myopathy";1269
"Myotonic syndrome";11
"Congenital myotonia";37
"Periodic paralysis";1081
"Muscular tumor";2
"Drug and/or toxic myopathy";0
"Infectious, fungal or parasitic myopathy";0
"Viral myositis";20
"Bacterial myositis";14
"Parasitic myositis";10
"Crouzon disease";19
"Eosinophilic gastroenteritis";492
"Fungal myositis";3
"Acquired amyloid myopathy";0
"Acquired rod-body myopathy";0
"Spinal muscular atrophy associated with central nervous system anomaly";0
"Rare hereditary disease with peripheral neuropathy";0
"Rare hereditary metabolic disease with peripheral neuropathy";0
"Rare hereditary systemic disease with peripheral neuropathy";0
"Rare hereditary neurologic disease with peripheral neuropathy";0
"Cerebellar ataxia with peripheral neuropathy";0
"Acute and subacute inflammatory demyelinating polyneuropathy";0
"Malignant lymphoma with peripheral neuropathy";0
"Qualitative or quantitative protein defects in neuromuscular diseases";0
"Qualitative or quantitative defects of sarcoglycan";0
"Qualitative or quantitative defects of alpha-sarcoglycan";0
"Qualitative or quantitative defects of beta-sarcoglycan";0
"Qualitative or quantitative defects of gamma-sarcoglycan";0
"Qualitative or quantitative defects of delta-sarcoglycan";0
"Qualitative or quantitative defects of dysferlin";0
"Qualitative or quantitative defects of caveolin-3";0
"Qualitative or quantitative defects of dystrophin";0
"Qualitative or quantitative defects of collagen 6";0
"Qualitative or quantitative defects of merosin";0
"Qualitative or quantitative defects of integrin alpha-7";0
"Qualitative or quantitative defects of perlecan";0
"Qualitative or quantitative defects of calpain";0
"Qualitative or quantitative defects of TRIM32";0
"Qualitative or quantitative defects of myotubularin";0
"Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan";0
"Qualitative or quantitative defects of FKRP";0
"Qualitative or quantitative defects of fukutin";0
"Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome";0
"Narcolepsy-cataplexy syndrome";21
"Gemignani syndrome";0
"Genito-palato-cardiac syndrome";2
"X-linked intellectual disability-epilepsy syndrome";0
"German syndrome";1
"Geroderma osteodysplastica";9
"Cerebral gigantism-jaw cysts syndrome";0
"Prominent glabella-microcephaly-hypogenitalism syndrome";0
"Glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome";0
"Bilateral parasagittal parieto-occipital polymicrogyria";4
"Bilateral frontal polymicrogyria";8
"Bilateral generalized polymicrogyria";2
"Glaucoma-sleep apnea syndrome";0
"Autosomal dominant cerebellar ataxia type II";4
"Spinocerebellar ataxia type 29";2
"Herpetiform pemphigus";22
"Genetic hypoparathyroidism";0
"Genetic hyperparathyroidism";0
"Optic pathway glioma";141
"Cryopyrin-associated periodic syndrome";95
"Glomerulonephritis-sparse hair-telangiectasis syndrome";0
"Glycogen storage disease due to GLUT2 deficiency";0
"Glycogen storage disease due to hepatic glycogen synthase deficiency";0
"Chronic acquired demyelinating polyneuropathy";11
"Chronic polyradiculoneuropathy";8
"Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies";0
"Acquired sensory ganglionopathy";0
"Non-paraneoplastic sensory ganglionopathy";0
"Paraneoplastic sensory ganglionopathy";0
"Cutis laxa";545
"GMS syndrome";1
"Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy";0
"Systemic inflammatory disease associated with an acquired peripheral neuropathy";0
"Peripheral neuropathy associated with monoclonal gammopathy";0
"Acquired amyloid peripheral neuropathy";0
"Hematological disease associated with an acquired peripheral neuropathy";0
"Solid tumor associated with an acquired peripheral neuropathy";0
"Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase";0
"Qualitative or quantitative defects of protein glycosyltransferase-like";0
"Qualitative or quantitative defects of protein O-mannosyltransferase 1";0
"Qualitative or quantitative defects of protein O-mannosyltransferase 2";0
"Qualitative or quantitative defects of myofibrillar proteins";0
"Qualitative or quantitative defects of desmin";0
"Qualitative or quantitative defects of alphaB-cristallin";0
"Qualitative or quantitative defects of filamin C";0
"Qualitative or quantitative defects of protein ZASP";0
"Qualitative or quantitative defects of titin";0
"Qualitative or quantitative defects of telethonin";0
"Qualitative or quantitative defects of alpha-actin";0
"Multinodular goiter-cystic kidney-polydactyly syndrome";0
"Qualitative or quantitative defects of nebulin";0
"Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)";0
"Qualitative or quantitative defects of emerin";0
"Qualitative or quantitative defects of selenoprotein N1";0
"Qualitative or quantitative defects of plectin";0
"Qualitative or quantitative defects of protein SERCA1";0
"Focal dermal hypoplasia";235
"Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -";0
"Qualitative or quantitative defects of myotilin";0
"Adult-onset proximal spinal muscular atrophy, autosomal dominant";0
"Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures";0
"Severe neonatal-onset encephalopathy with microcephaly";0
"Gorlin-Chaudhry-Moss syndrome";8
"Grant syndrome";2
"Acromesomelic dysplasia, Grebe type";1
"Autosomal dominant rhegmatogenous retinal detachment";3
"Familial juvenile hyperuricemic nephropathy type 1";0
"Grix-Blankenship-Peterson syndrome";0
"Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency";0
"Brain-lung-thyroid syndrome";9
"Childhood apraxia of speech";94
"Extraskeletal myxoid chondrosarcoma";247
"Idiopathic copper-associated cirrhosis";0
"Cone dystrophy with supernormal rod response";0
"IRVAN syndrome";8
"Autosomal recessive spastic paraplegia type 18";0
"Idiopathic uveal effusion syndrome";15
"Phacoanaphylactic uveitis";4
"Solitary rectal ulcer syndrome";172
"Episodic ataxia type 6";4
"Episodic ataxia type 7";0
"Benign familial nocturnal alternating hemiplegia of childhood";0
"Alternating hemiplegia";173
"IRIDA syndrome";0
"Non-papillary transitional cell carcinoma of the bladder";0
"Cyclosporosis";10
"Grubben-de Cock-Borghgraef syndrome";0
"Intermediate osteopetrosis";6
"Sterile multifocal osteomyelitis with periostitis and pustulosis";0
"Congenital alveolar capillary dysplasia";11
"Urocanic aciduria";1
"Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome";0
"Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome";0
"Inherited congenital spastic tetraplegia";0
"Lethal polymalformative syndrome, Boissel type";0
"Adult hepatocellular carcinoma";9
"Congenital lethal myopathy, Compton-North type";0
"GTP cyclohydrolase I deficiency";19
"Mal de débarquement";34
"Guillain-Barré syndrome";5154
"Dysmorphism-pectus carinatum-joint laxity syndrome";0
"Macrocephaly-intellectual disability-autism syndrome";0
"Myoclonic dystonia 15";0
"Dystonia 16";9
"Congenital temporomandibular joint ankylosis";5
"Temporomandibular joint anomaly";0
"Spindle cell hemangioma";34
"Infantile hemangioma of rare localization";0
"Hall-Riggs syndrome";1
"Hallermann-Streiff syndrome";77
"Hallermann-Streiff-like syndrome";0
"Familial cylindromatosis";95
"Hallux varus-preaxial polysyndactyly syndrome";0
"Spinocerebellar ataxia type 30";0
"Autosomal dominant proximal spinal muscular atrophy";2
"Specific learning disability";96
"Specific language disorder";23
"Hereditary episodic ataxia";5
"Episodic ataxia type 5";0
"Cystic hamartoma of lung and kidney";0
"Follicular hamartoma-alopecia-cystic fibrosis syndrome";0
"Rare vascular tumor";147
"Genetic vascular anomaly";0
"Simple vascular malformation";0
"Rare capillary malformation";0
"Rare venous malformation";9
"Rare lymphatic system malformation";0
"Rare arteriovenous malformation";5
"Complex vascular malformation with associated anomalies";0
"Congenital hypothalamic hamartoma syndrome";1
"Hip dysplasia, Beukes type";1
"Harrod syndrome";0
"Hartnup disease";69
"Hartsfield-Bixler-Demyer syndrome";0
"Hawkinsinuria";8
"HEC syndrome";0
"Cystathioninuria";51
"Kaposiform hemangioendothelioma";181
"Diffuse neonatal hemangiomatosis";37
"Cavernous hemangiomas of face-supraumbilical midline raphe syndrome";0
"Sacral hemangiomas-multiple congenital abnormalities syndrome";0
"Solitary fibrous tumor";1219
"Isolated hemihyperplasia";22
"Cystinosis";702
"Hemimelia";193
"Alternating hemiplegia of childhood";128
"Hemoglobin C disease";275
"Hemoglobin E disease";41
"Atypical hemolytic-uremic syndrome";619
"Hennekam-Beemer syndrome";0
"Ovarian cancer";35149
"Adenocarcinoma of ovary";0
"Malignant mixed Müllerian tumor of the ovary";0
"Familial ovarian cancer";160
"Hereditary site-specific ovarian cancer syndrome";0
"Rare adenocarcinoma of the breast";0
"Metaplastic carcinoma of the breast";89
"Salivary gland type cancer of the breast";0
"Rare uterine cancer";0
"Rare cancer of corpus uteri";0
"Rare variants of adenocarcinoma of the corpus uteri";0
"Malignant mixed epithelial and mesenchymal tumor of corpus uteri";0
"Hennekam syndrome";35
"Adenosarcoma of the corpus uteri";0
"Carcinofibroma of the corpus uteri";0
"Carcinosarcoma of the corpus uteri";4
"Rhabdomyosarcoma of the corpus uteri";0
"Sarcoma of the corpus uteri";4
"Leiomyosarcoma of the corpus uteri";1
"Primitive neuroectodermal tumor of the corpus uteri";0
"Autoimmune hepatitis";3547
"Endometrial stromal sarcoma";802
"Squamous cell carcinoma of the corpus uteri";0
"Undifferentiated carcinoma of the corpus uteri";0
"Papillary carcinoma of the corpus uteri";0
"High-grade neuroendocrine carcinoma of the corpus uteri";0
"Low-grade neuroendocrine tumor of the corpus uteri";0
"Adenoid cystic carcinoma of the corpus uteri";0
"Transitional cell carcinoma of the corpus uteri";0
"Malignant germ cell tumor of corpus uteri";0
"Rare cancer of cervix uteri";0
"Squamous cell carcinoma of the cervix uteri";0
"Adenocarcinoma of cervix uteri";0
"High-grade neuroendocrine carcinoma of the cervix uteri";0
"Malignant mixed epithelial and mesenchymal tumor of cervix uteri";0
"Carcinosarcoma of the cervix uteri";0
"Adenosarcoma of the cervix uteri";0
"Sarcoma of cervix uteri";0
"46,XX ovotesticular disorder of sex development";0
"Rhabdomyosarcoma of the cervix uteri";0
"Leiomyosarcoma of the cervix uteri";0
"Primitive neuroectodermal tumor of the cervix uteri";0
"Papillary carcinoma of the cervix uteri";0
"Adenoid cystic carcinoma of the cervix uteri";0
"Adenoid basal carcinoma of the cervix uteri";0
"Glassy cell carcinoma of the cervix uteri";0
"Malignant germ cell tumor of cervix uteri";0
"Hernández-Aguirre Negrete syndrome";0
"Cystinuria";750
"Congenital diaphragmatic hernia";2621
"Diaphragmatic defect-limb deficiency-skull defect syndrome";0
"Donnai-Barrow syndrome";16
"Craniosynostosis, Herrmann-Opitz type";0
"Lissencephaly type 1 due to doublecortin gene mutation";0
"Nodular neuronal heterotopia";2
"Congenital stationary night blindness";323
"Hirschsprung disease-type D brachydactyly syndrome";0
"Hirschsprung disease-ganglioneuroblastoma syndrome";0
"Mowat-Wilson syndrome";77
"Hirschsprung disease-nail hypoplasia-dysmorphism syndrome";0
"Hirschsprung disease-deafness-polydactyly syndrome";0
"Hirsutism-skeletal dysplasia-intellectual disability syndrome";0
"Histidinemia";59
"Histidinuria-renal tubular defect syndrome";0
"Neuronal ceroid lipofuscinosis";958
"Holoprosencephaly";1362
"Holoprosencephaly-craniosynostosis syndrome";0
"Prelingual non-syndromic genetic deafness";0
"Postlingual non-syndromic genetic deafness";0
"Holoprosencephaly-caudal dysgenesis syndrome";0
"Holoprosencephaly-postaxial polydactyly syndrome";0
"Transposition of the great arteries";3202
"Congenitally corrected transposition of the great arteries";333
"Holzgreve-Wagner-Rehder syndrome";0
"Isolated congenitally uncorrected transposition of the great arteries";0
"Congenitally uncorrected transposition of the great arteries with cardiac malformation";0
"Osteogenesis imperfecta type 1";3
"Homocarnosinosis";8
"Osteogenesis imperfecta type 2";2
"Osteogenesis imperfecta type 3";27
"Osteogenesis imperfecta type 4";0
"Osteogenesis imperfecta type 5";0
"Classic pantothenate kinase-associated neurodegeneration";5
"Atypical pantothenate kinase-associated neurodegeneration";5
"Methylcobalamin deficiency type cblE";0
"Niemann-Pick disease type C, severe perinatal form";0
"Niemann-Pick disease type C, severe early infantile neurologic onset";0
"Niemann-Pick disease type C, late infantile neurologic onset";0
"Niemann-Pick disease type C, juvenile neurologic onset";0
"Niemann-Pick disease type C, adult neurologic onset";0
"Autosomal dominant dystrophic epidermolysis bullosa, Pasini type";0
"Isolated Dandy-Walker malformation";6
"Methylcobalamin deficiency type cblG";0
"Bockenheimer syndrome";0
"Spinocerebellar ataxia type 31";18
"Zechi-Ceide syndrome";1
"Atypical hemolytic-uremic syndrome with thrombomodulin anomaly";0
"Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type";0
"Male infertility with normal virilization due to meiosis defect";0
"Autosomal recessive intermediate Charcot-Marie-Tooth disease type A";0
"Isolated congenital digital clubbing";0
"5-fluorouracil poisoning";0
"Pouchitis";1145
"Renal cell carcinoma";27125
"Rare carcinoma of pancreas";0
"Pulmonary fungal infections in patients deemed at risk";0
"Mucopolysaccharidosis type 2, severe form";0
"Mucopolysaccharidosis type 2, attenuated form";0
"Microcephaly-glomerulonephritis-marfanoid habitus syndrome";0
"Limbic encephalitis with NMDA receptor antibodies";0
"Progressive multifocal leukoencephalopathy";2506
"BNAR syndrome";3
"Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome";0
"Hyperuricemia-anemia-renal failure syndrome";0
"RIN2 syndrome";3
"17q21.31 microduplication  syndrome";0
"19q13.11 microdeletion syndrome";2
"Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins";0
"Microduplication Xp11.22-p11.23 syndrome";0
"Neurodegenerative syndrome due to cerebral folate transport deficiency";0
"17p13.3 microduplication syndrome";2
"Combined immunodeficiency due to DOCK8 deficiency";0
"Progressive demyelinating neuropathy with bilateral striatal necrosis";0
"Congenital insensitivity to pain with hyperhidrosis";0
"Hunter-Carpenter-McDonald syndrome";0
"Hereditary hypotrichosis with recurrent skin vesicles";0
"Rare hereditary thrombophilia";0
"Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency";0
"Pulmonary interstitial glycogenosis";28
"Neuroendocrine cell hyperplasia of infancy";27
"Neonatal acute respiratory distress due to SP-B deficiency";0
"Chronic respiratory distress with surfactant metabolism deficiency";0
"Hypertrophic cardiomyopathy";10407
"Glycogen storage disease with hypertrophic cardiomyopathy";0
"Lysosomal disease with hypertrophic cardiomyopathy";0
"Mitochondrial disease with hypertrophic cardiomyopathy";0
"Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy";0
"Syndrome associated with hypertrophic cardiomyopathy";0
"Non-familial hypertrophic cardiomyopathy";0
"Infantile systemic hyalinosis";55
"Hypertrophic cardiomyopathy due to intensive athletic training";0
"Dilated cardiomyopathy";14149
"Familial dilated cardiomyopathy";254
"Neuromuscular disease with dilated cardiomyopathy";0
"Mitochondrial disease with dilated cardiomyopathy";0
"Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy";0
"Syndrome associated with dilated cardiomyopathy";0
"Sensorineural deafness with dilated cardiomyopathy";0
"Non-familial dilated cardiomyopathy";3
"Restrictive cardiomyopathy";968
"Familial restrictive cardiomyopathy";7
"Lysosomal disease with restrictive cardiomyopathy";0
"Familial isolated arrhythmogenic right ventricular dysplasia";0
"Unclassified cardiomyopathy";49
"Hydranencephaly";252
"Non-familial restrictive cardiomyopathy";0
"Darier disease";696
"Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome";0
"Hydrocephaly-tall stature-joint laxity syndrome";0
"Hydrocephalus with stenosis of the aqueduct of Sylvius";0
"Hydrocephalus-obesity-hypogonadism syndrome";0
"Hydrocephaly-low insertion umbilicus syndrome";0
"Rare cardiac rhythm disease";0
"Non-genetic cardiac rhythm disease";0
"Congenital hydrocephalus";499
"Hydrocephalus-blue sclerae-nephropathy syndrome";0
"Hydrolethalus";51
"Autosomal recessive limb-girdle muscular dystrophy type 2F";0
"Congenital hydronephrosis";171
"Anti-HLA hyperimmunization";0
"Dicarboxylic aminoaciduria";8
"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement";0
"Idiopathic hypercalciuria";438
"Palmoplantar keratoderma-esophageal carcinoma syndrome";0
"Epidermolytic palmoplantar keratoderma";88
"Succinic semialdehyde dehydrogenase deficiency";75
"Denys-Drash syndrome";191
"Focal palmoplantar and gingival keratoderma";0
"Palmoplantar keratoderma-spastic paralysis syndrome";0
"Palmoplantar keratoderma-deafness syndrome";0
"Xeroderma pigmentosum-Cockayne syndrome complex";8
"Hyperlysinemia";24
"Semilobar holoprosencephaly";67
"Diffuse cutaneous systemic sclerosis";161
"Dysplastic cortical hyperostosis";1
"Limited cutaneous systemic sclerosis";109
"Limited systemic sclerosis";81
"Quebec platelet disorder";23
"Bleeding diathesis due to thromboxane synthesis deficiency";0
"Macrothrombocytopenia with mitral valve insufficiency";0
"Isolated hereditary giant platelet disorder";0
"Attenuated familial adenomatous polyposis";82
"Laron syndrome with immunodeficiency";0
"Rare hereditary hemochromatosis";0
"Joubert syndrome with ocular defect";0
"Joubert syndrome with renal defect";0
"Ankylosing vertebral hyperostosis with tylosis";0
"Familial primary hyperparathyroidism";29
"Maternal phenylketonuria";198
"Dermatomyositis";5204
"Rothmund-Thomson syndrome type 1";0
"Rothmund-Thomson syndrome type 2";0
"Hereditary sclerosing poikiloderma, Weary type";0
"Hereditary sclerosing poikiloderma with tendon and pulmonary involvement";0
"Poikiloderma with neutropenia";27
"Acrocephalopolydactyly";0
"Familial cerebral cavernous malformation";39
"Marchiafava-Bignami disease";132
"Combined hyperactive dysfunction syndrome of the cranial nerves";0
"Clonic hemifacial spasm";1
"Trigeminal neuralgia";3807
"Glossopharyngeal neuralgia";307
"Hypertelorism-hypospadias-polysyndactyly syndrome";0
"Isolated facial myokymia";2
"Cranial neuralgia";27
"Acquired peripheral movement disorder";0
"Gerstmann syndrome";120
"Pseudoaminopterin syndrome";5
"Fowler syndrome";15
"Combined immunodeficiency with faciooculoskeletal anomalies";0
"Confetti-like macular atrophy";0
"Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies";0
"Pitt-Hopkins-like syndrome";0
"Hypertelorism-microtia-facial clefting syndrome";0
"Multiple pterygium-malignant hyperthermia syndrome";0
"Maternal hyperthermia induced birth defects";0
"Cervical hypertrichosis-peripheral neuropathy syndrome";0
"Erosive pustular dermatosis of the scalp";34
"Hypertrichosis cubiti-short stature syndrome";0
"Acquired hypertrichosis lanuginosa";24
"Hypertrichosis lanuginosa congenita";3
"Hypertryptophanemia";5
"Hereditary poikiloderma";0
"Hypodontia-dysplasia of nails syndrome";0
"Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome";0
"Nephrogenic diabetes insipidus";791
"Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome";0
"Primary hypergonadotropic hypogonadism-partial alopecia syndrome";0
"Hypogonadism-mitral valve prolapse-intellectual disability syndrome";0
"Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome";0
"Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome";0
"Hypoparathyroidism-deafness-renal disease syndrome";0
"Mitochondrial oxidative phosphorylation disorder";0
"Bone sarcoma";583
"Lymphoma";100000
"Familial isolated hypoparathyroidism";16
"Familial isolated hypoparathyroidism due to agenesis of parathyroid gland";0
"Neonatal diabetes mellitus";369
"Megacystis-microcolon-intestinal hypoperistalsis syndrome";118
"Hypopituitarism-micropenis-cleft lip/palate syndrome";0
"Hypopituitarism-microphthalmia syndrome";0
"Hypopituitarism-postaxial polydactyly syndrome";0
"Cerebellar hypoplasia-tapetoretinal degeneration syndrome";0
"Hypoplastic left heart syndrome";2371
"Ulna hypoplasia-intellectual disability syndrome";0
"Maternally-inherited diabetes and deafness";120
"Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome";0
"Thumb deformity-alopecia-pigmentation anomaly syndrome";0
"Hemochromatosis type 3";10
"Sporadic infantile bilateral striatal necrosis";0
"Familial infantile bilateral striatal necrosis";1
"Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome";0
"Foveal hypoplasia-presenile cataract syndrome";0
"Pontocerebellar hypoplasia type 1";20
"Pancreatic hypoplasia-diabetes-congenital heart disease syndrome";0
"Fibulo-ulnar hypoplasia-renal anomalies syndrome";0
"Lysosomal disease with epilepsy";0
"Peroxisomal disease with epilepsy";0
"Amino acid or protein metabolism disease with epilepsy";0
"Metal transport or utilization disorder with epilepsy";0
"Energy metabolism disorder with epilepsy";0
"Familial primary pulmonary hypoplasia";0
"Mitochondrial disease with epilepsy";0
"Mitochondrial disease with peripheral neuropathy";0
"Metabolic neurotransmission anomaly with epilepsy";0
"Sterol metabolism disorder with epilepsy";0
"Other metabolic disease with epilepsy";0
"Congenital unilateral pulmonary hypoplasia";0
"Inherited predisposition to essential thrombocythemia";0
"Dihydropteridine reductase deficiency";75
"Oligomeganephronia";28
"Hypospadias-intellectual disability, Goldblatt type syndrome";0
"Permanent congenital hypothyroidism";48
"Primary congenital hypothyroidism";84
"Central congenital hypothyroidism";13
"Hypothyroidism due to deficient transcription factors involved in pituitary development or function";0
"Peripheral hypothyroidism";16
"Congenital hypothyroidism due to maternal intake of antithyroid drugs";0
"Genetic transient congenital hypothyroidism";0
"Hypotrichosis-intellectual disability, Lopes type";0
"Ichthyosis-cheek-eyebrow syndrome";0
"ICF syndrome";110
"Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome";0
"Diphallia";31
"Congenital ichthyosis-microcephalus-tetraplegia syndrome";0
"Ichthyosis-oral and digital anomalies syndrome";0
"Ichthyosis follicularis-alopecia-photophobia syndrome";1
"Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome";0
"Multiple system atrophy, cerebellar type";2
"Hereditary breast cancer";775
"Familial flecked retinopathy";0
"Fundus albipunctatus";82
"Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome";0
"Toxic oil syndrome";158
"Autosomal recessive optic atrophy, OPA7 type";0
"Autoimmune polyendocrinopathy type 3";0
"Autoimmune polyendocrinopathy type 4";0
"Idiopathic CD4 lymphocytopenia";78
"Severe combined immunodeficiency due to CORO1A deficiency";0
"Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome";0
"Anal fistula";596
"Hughes-Stovin syndrome";23
"Fusariosis";382
"Coccidioidomycosis";1381
"Idiopathic ventricular fibrillation, non Brugada type";0
"Multiple sclerosis variant";3
"Marburg acute multiple sclerosis";0
"Baló concentric sclerosis";14
"Autosomal dominant striatal neurodegeneration";0
"Autosomal dominant Charcot-Marie-Tooth disease type 2N";0
"Autosomal dominant Charcot-Marie-Tooth disease type 2M";0
"Heart-hand syndrome";24
"Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome";0
"Dysmorphism-short stature-deafness-disorder of sex development syndrome";0
"Genetic dermis elastic tissue disorder";0
"Acquired dermis elastic tissue disorder";0
"Acquired dermis elastic tissue disorder with decreased elastic tissue";0
"Acquired dermis elastic tissue disorder with increased elastic tissue";0
"Late-onset focal dermal elastosis";10
"Linear focal dermal elastosis";0
"Elastoderma";5
"Elastofibroma dorsi";125
"Acquired pseudoxanthoma elasticum";0
"Elastoma";20
"Papular elastorrhexis";14
"Primary anetoderma";28
"Familial anetoderma";3
"Acquired cutis laxa";54
"White fibrous papulosis of the neck";12
"Pseudoxanthoma elasticum-like papillary dermal elastolysis";18
"Mid-dermal elastolysis";44
"Carnitine palmitoyl transferase II deficiency, myopathic form";0
"Carnitine palmitoyl transferase II deficiency, severe infantile form";0
"Carnitine palmitoyl transferase II deficiency, neonatal form";0
"Autoimmune hemolytic anemia, cold type";0
"Idiopathic hypersomnia with long sleep time";9
"Idiopathic hypersomnia without long sleep time";0
"CLN1 disease";4
"CLN10 disease";0
"CLN4A disease";0
"CLN4B disease";0
"CLN3 disease";15
"CLN2 disease";11
"CLN8 disease";1
"CLN9 disease";0
"CLN5 disease";4
"CLN6 disease";3
"CLN7 disease";4
"Foodborne botulism";101
"Severe early-onset axonal neuropathy due to NEFL deficiency";0
"Virus-associated trichodysplasia spinulosa";3
"5q14.3 microdeletion syndrome";4
"Spondylo-megaepiphyseal-metaphyseal dysplasia";4
"Frontonasal dysplasia with alopecia and genital anomaly";0
"Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome";0
"8q12 microduplication syndrome";0
"2q23.1 microdeletion syndrome";8
"Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome";0
"Polyvalvular heart disease syndrome";1
"5q35 microduplication syndrome";0
"Monocytopenia with susceptibility to infections";0
"Syndromic multisystem autoimmune disease due to Itch deficiency";0
"Generalized congenital lipodystrophy with myopathy";0
"Primary basilar invagination";4
"Solitary median maxillary central incisor syndrome";19
"Fused mandibular incisors";1
"Neuronal intranuclear inclusion disease";43
"Familial aortic dissection";10
"Microvillus inclusion disease";78
"Congenital velopharyngeal incompetence";4
"Congenital bowing of long bones";0
"Ehlers-Danlos syndrome type 11";0
"Insulin-resistance syndrome type A";0
"Isolated agammaglobulinemia";0
"Syndromic agammaglobulinemia";0
"Insulin-resistance syndrome type B";0
"Aortic arch interruption";80
"Argininosuccinic aciduria";153
"Dopamine beta-hydroxylase deficiency";51
"Multiple intestinal atresia";32
"Congenital short bowel syndrome";15
"Asbestos intoxication";0
"Isotretinoin syndrome";2
"Isotretinoin-like syndrome";0
"IVIC syndrome";6
"Jacobsen syndrome";94
"Toxin-mediated infectious botulism";0
"Ehlers-Danlos syndrome due to tenascin-X deficiency";0
"Ehlers-Danlos syndrome, vascular-like type";0
"Ehlers-Danlos syndrome, cardiac valvular type";0
"Ehlers-Danlos/osteogenesis imperfecta syndrome";0
"Pachyonychia congenita";195
"Dracunculiasis";317
"Absence deformity of leg-cataract syndrome";0
"Congenital trigeminal anesthesia";2
"Erythema palmare hereditarium";2
"Familial generalized lentiginosis";0
"High-grade dysplasia in patients with Barrett esophagus";0
"Autosomal recessive spondylocostal dysostosis";8
"Familial rhabdoid tumor";0
"Drug-induced lupus erythematosus";94
"Beckwith-Wiedemann syndrome due to imprinting defect of 11p15";0
"Beckwith-Wiedemann syndrome due to CDKN1C mutation";0
"Beckwith-Wiedemann syndrome due to 11p15 microdeletion";0
"Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion";0
"Silver-Russell syndrome due to 7p11.2p13 microduplication";0
"Silver-Russell syndrome due to an imprinting defect of 11p15";0
"Silver-Russell syndrome due to 11p15 microduplication";0
"Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11";0
"Combined immunodeficiency due to partial RAG1 deficiency";0
"Familial cerebral saccular aneurysm";0
"Usher syndrome type 1";52
"Usher syndrome type 2";27
"Usher syndrome type 3";13
"Transient familial neonatal hyperbilirubinemia";0
"Beta-thalassemia major";1205
"Beta-thalassemia intermedia";356
"Dominant beta-thalassemia";14
"Beta-thalassemia associated with another hemoglobin anomaly";0
"Delta-beta-thalassemia";96
"Hemoglobin C-beta-thalassemia syndrome";0
"Hemoglobin E-beta-thalassemia syndrome";0
"Beta-thalassemia-trichothiodystrophy syndrome";0
"Beta-thalassemia with other manifestations";0
"Beta-thalassemia-X-linked thrombocytopenia syndrome";0
"Autosomal dominant hyper-IgE syndrome";42
"Alpha-thalassemia-myelodysplastic syndrome";7
"Variant of Guillain-BarrÈ syndrome";0
"Regional variant of Guillain-Barré syndrome";0
"Functional variant of Guillain-Barré syndrome";0
"Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome";0
"Paraparetic variant of Guillain-Barré syndrome";0
"Acute pure sensory neuropathy";0
"Acute pandysautonomia";30
"Acute sensory ataxic neuropathy";9
"Johanson-Blizzard syndrome";62
"Hermansky-Pudlak syndrome with pulmonary fibrosis";0
"Hermansky-Pudlak syndrome without pulmonary fibrosis";0
"Hermansky-Pudlak syndrome type 7";0
"Hermansky-Pudlak syndrome type 8";0
"Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome";0
"Generalized dominant dystrophic epidermolysis bullosa";0
"Congenital erosive and vesicular dermatosis";12
"Primary unilateral adrenal hyperplasia";0
"Johnson neuroectodermal syndrome";0
"Adrenocortical carcinoma with pure aldosterone hypersecretion";0
"Ectopic aldosterone-producing tumor";0
"Rare surgically correctable form of primary aldosteronism";0
"Rare non surgically correctable form of primary aldosteronism";0
"Isolated growth hormone deficiency type IA";5
"Isolated growth hormone deficiency type IB";2
"Isolated growth hormone deficiency type II";19
"Isolated growth hormone deficiency type III";0
"Non-acquired combined pituitary hormone deficiency with spine abnormalities";0
"Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome";0
"Epibulbar lipodermoid-preauricular appendage-polythelia syndrome";0
"Joubert syndrome with oculorenal defect";0
"Juberg-Hayward syndrome";10
"Disease associated with a genetic susceptibility";0
"Sickle cell anemia";12019
"Infectious embryofetopathy";0
"Jung-Wolff-Back-Stahl syndrome";0
"Kabuki syndrome";236
"Alpha-thalassemia-related diseases";0
"Sanjad-Sakati syndrome";19
"Osteopenia-intellectual disability-sparse hair syndrome";0
"Epidermolysis bullosa simplex with anodontia/hypodontia";0
"Kallmann syndrome-heart disease syndrome";0
"Kapur-Toriello syndrome";3
"Karsch-Neugebauer syndrome";2
"Duane retraction syndrome";421
"Kasabach-Merritt syndrome";354
"Kawasaki disease";3369
"KBG syndrome";36
"Kenny-Caffey syndrome";27
"Autosomal dominant keratitis";8
"Rare genetic vascular disease";0
"Non-epidermolytic palmoplantar keratoderma";19
"Isolated punctate palmoplantar keratoderma";0
"Keratosis follicularis-dwarfism-cerebral atrophy syndrome";0
"Dubin-Johnson syndrome";169
"Keratosis follicularis spinulosa decalvans";50
"Haim-Munk syndrome";11
"Isolated cloverleaf skull syndrome";0
"Isolated Klippel-Feil syndrome";0
"Angioosteohypertrophic syndrome";0
"Lethal Kniest-like dysplasia";0
"Familial partial lipodystrophy, Dunnigan type";0
"Muscular pseudohypertrophy-hypothyroidism syndrome";0
"Dubowitz syndrome";63
"Kousseff syndrome";6
"Kozlowski-Brown-Hardwick syndrome";0
"Schilbach-Rott syndrome";4
"Kumar-Levick syndrome";0
"Arachnoid cyst";1438
"Bronchogenic cyst";942
"Congenital vascular bone syndrome";4
"Familial hyperaldosteronism";95
"Trisomy 9p";101
"Lacrimoauriculodentodigital syndrome";8
"Glycogen storage disease due to lactate dehydrogenase deficiency";0
"Gastroschisis";1593
"Limb body wall complex";63
"Duplication of urethra";6
"Larsen-like osseous dysplasia-short stature syndrome";0
"Lethal Larsen-like syndrome";0
"Laryngocele";176
"Congenital laryngomalacia";19
"Congenital laryngeal web";21
"Laryngeal abductor paralysis-intellectual disability syndrome";0
"Laurence-Moon syndrome";139
"Laurin-Sandrow syndrome";11
"Early-onset parkinsonism-intellectual disability syndrome";0
"Digestive duplication";10
"Legg-Calvé-Perthes disease";1276
"Lennox-Gastaut syndrome";951
"AApoAII amyloidosis";3
"Infundibulo-neurohypophysitis";18
"Severe X-linked mitochondrial encephalomyopathy";0
"15q11q13 microduplication syndrome";0
"Infantile dystonia-parkinsonism";0
"SLC35A1-CDG";1
"Hypohidrotic ectodermal dysplasia";353
"Familial hypercholanemia";2
"Autosomal recessive lymphoproliferative disease";0
"Lymphoproliferative syndrome";642
"Hypotonia-cystinuria syndrome type 1";0
"Atypical hypotonia-cystinuria syndrome";0
"Congenital secondary polycythemia";0
"Acquired secondary polycythemia";0
"Chuvash erythrocytosis";0
"Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome";0
"Familial clubfoot due to 17q23.1q23.2 microduplication";0
"Hyperphenylalaninemia";578
"IgG4-related mesenteritis";0
"Leukoencephalopathy-palmoplantar keratoderma syndrome";0
"Primary orthostatic tremor";53
"Beckwith-Wiedemann syndrome due to NSD1 mutation";0
"Ileal pouch anal anastomosis related faecal incontinence";0
"Idiopathic intracranial hypertension";969
"48,XXYY syndrome";21
"Ataxia-telangiectasia";6310
"48,XXYY syndrome";21
"Ataxia-telangiectasia";6310
"Megacystis-megaureter syndrome";4
"Primary megaureter, adult-onset form";0
"Congenital primary megaureter, obstructed form";0
"Congenital primary megaureter, refluxing form";0
"Congenital primary megaureter, nonrefluxing and unobstructed form";0
"Isolated congenital hypogonadotropic hypogonadism";0
"Isolated thyrotropin-releasing hormone deficiency";1
"Neonatal iodine exposure";0
"Transient congenital hypothyroidism due to maternal factor";0
"Transient congenital hypothyroidism due to neonatal factor";0
"Leukonychia totalis";23
"Familial congenital mirror movements";2
"Mammary-digital-nail syndrome";0
"4q21 microdeletion syndrome";4
"Autosomal dominant limb-girdle muscular dystrophy type 1H";0
"Glaucoma secondary to spherophakia/ectopia lentis and megalocornea";0
"Ptosis-syndactyly-learning difficulties syndrome";0
"1q44 microdeletion syndrome";0
"Choreoacanthocytosis";23
"Lewis-Pashayan syndrome";0
"Dyggve-Melchior-Clausen disease";1
"Lichtenstein syndrome";5
"Congenitally short costocoracoid ligament";0
"Pyruvate dehydrogenase E3 deficiency";0
"Encephalocraniocutaneous lipomatosis";87
"Multiple symmetric lipomatosis";100
"Nasopalpebral lipoma-coloboma syndrome";6
"Fumaric aciduria";16
"Léri-Weill dyschondrosteosis";110
"Peripheral motor neuropathy-dysautonomia syndrome";0
"Classic progressive supranuclear palsy syndrome";0
"Progressive supranuclear palsy-parkinsonism syndrome";0
"Progressive supranuclear palsy-pure akinesia with gait freezing syndrome";0
"Progressive supranuclear palsy-corticobasal syndrome";0
"Progressive supranuclear palsy-progressive non-fluent aphasia syndrome";0
"Syndromic obesity";37
"Loiasis";356
"Thickened earlobes-conductive deafness syndrome";0
"Locked-in syndrome";405
"LOC syndrome";7
"Nijmegen breakage syndrome-like disorder";2
"Lowe-Kohn-Cohen syndrome";0
"5-fluorouracil toxicity";59
"Abacavir toxicity";2
"Allopurinol toxicity";10
"Cisplatin toxicity";133
"Codeine toxicity";4
"Efavirenz toxicity";8
"Flucloxacilline toxicity";0
"Irinotecan toxicity";71
"Isoniazid toxicity";28
"Lowry-MacLean syndrome";0
"Raltegravir toxicity";0
"Voriconazole toxicity";4
"Resistance to clopidogrel";0
"Resistance to tamoxifene";0
"Dyschromatosis universalis";31
"Hypergonadotropic hypogonadism-cataract syndrome";0
"Tacrolimus dose selection";0
"Dislocation of the hip-dysmorphism syndrome";0
"Congenital pulmonary lymphangiectasia";35
"Rare lymphatic malformation";0
"Lymphedema-ptosis syndrome";0
"46,XY complete gonadal dysgenesis";22
"Primary pulmonary lymphoma";97
"Macrocephaly-short stature-paraplegia syndrome";0
"Macrocephaly-spastic paraplegia-dysmorphism syndrome";0
"46,XX gonadal dysgenesis";114
"Congenital macroglossia";13
"Central bilateral macrogyria";0
"Macrosomia-microphthalmia-cleft palate syndrome";0
"Dimethylglycine dehydrogenase deficiency";3
"Acute fatty liver of pregnancy";378
"Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome";0
"Czeizel-Losonci syndrome";0
"Hand-foot-genital syndrome";33
"Patterson-Stevenson-Fontaine syndrome";1
"Primary ciliary dyskinesia";772
"Split hand-split foot malformation";55
"X-linked lymphoproliferative disease";230
"HELLP syndrome";1850
"De novo thrombotic microangiopathy after kidney transplantation";0
"Biliary atresia with splenic malformation syndrome";0
"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies";0
"Dominant hypophosphatemia with nephrolithiasis or osteoporosis";0
"RFT1-CDG";3
"Congenital pulmonary airway malformation";80
"Conotruncal heart malformations";12
"Congenital mitral malformation";0
"Nager syndrome";76
"Mucocutaneous venous malformations";3
"Malpuech syndrome";12
"Familial intestinal malrotation-facial anomalies syndrome";0
"Familial supernumerary nipples";2
"Mandibuloacral dysplasia";70
"Mansonelliasis";168
"Postaxial acrofacial dysostosis";23
"Van den Ende-Gupta syndrome";9
"Marden-Walker syndrome";41
"Shprintzen-Goldberg syndrome";39
"Marfanoid habitus-autosomal recessive intellectual disability syndrome";0
"Marfanoid syndrome, De Silva type";0
"MASA syndrome";40
"Systemic mastocytosis";1097
"Arrhythmogenic right ventricular cardiomyopathy";918
"Matthew-Wood syndrome";16
"McDonough syndrome";2
"Infantile mercury poisoning";0
"Progressive cerebello-cerebral atrophy";5
"Collecting duct carcinoma";233
"Sporadic adult-onset ataxia of unknown etiology";6
"Non-hereditary degenerative ataxia";0
"Acquired ataxia";4
"Superficial siderosis";264
"Inhalational anthrax";152
"Hyperphosphatasia-intellectual disability syndrome";0
"McKusick-Kaufman syndrome";70
"Generalized pustular psoriasis";248
"Autosomal recessive secondary polycythemia not associated with VHL gene";0
"White forelock with malformations";0
"Autosomal dominant secondary polycythemia";0
"Primary ciliary dyskinesia-retinitis pigmentosa syndrome";0
"Citrullinemia type I";18
"Acute neonatal citrullinemia type I";0
"Adult-onset citrullinemia type I";0
"Citrin deficiency";125
"Citrullinemia type II";15
"Neonatal intrahepatic cholestasis due to citrin deficiency";0
"Dysraphism-cleft lip/palate-limb reduction defects syndrome";0
"Juvenile primary lateral sclerosis";10
"Perinatal lethal hypophosphatasia";9
"Prenatal benign hypophosphatasia";0
"Infantile hypophosphatasia";56
"Childhood-onset hypophosphatasia";0
"Adult hypophosphatasia";32
"Odontohypophosphatasia";15
"Retinal vasculopathy and cerebral leukoencephalopathy";0
"Multiple endocrine neoplasia type 2A";1139
"Megalencephaly";431
"Multiple endocrine neoplasia type 2B";421
"Inflammatory myopathy with abundant macrophages";9
"Idiopathic eosinophilic myositis";7
"Lipoblastoma";268
"X-linked cerebellar ataxia";1
"Müllerian aplasia and hyperandrogenism";0
"Mayer-Rokitansky-Küster-Hauser syndrome type 1";0
"FTH1-related iron overload";0
"Juvenile cataract-microcornea-renal glucosuria syndrome";0
"MUTYH-related attenuated familial adenomatous polyposis";0
"Megalencephalic leukoencephalopathy with subcortical cysts";92
"APC-related attenuated familial adenomatous polyposis";0
"Autosomal recessive ataxia due to PEX10 deficiency";0
"Ectodermal dysplasia-syndactyly syndrome";5
"Ectodermal dysplasia-cutaneous syndactyly syndrome";0
"Occult macular dystrophy";36
"Oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies";0
"Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies";0
"Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies";0
"Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies";0
"NLRP12-associated hereditary periodic fever syndrome";0
"Megalocornea-intellectual disability syndrome";0
"Autosomal recessive hypohidrotic ectodermal dysplasia";10
"Primary hypertrophic osteoarthropathy";256
"Neurocutaneous melanocytosis";36
"Juvenile Huntington disease";28
"Melhem-Fahl syndrome";0
"Rare deficiency anemia";0
"Constitutional deficiency anemia";0
"Melkersson-Rosenthal syndrome";331
"Rare acquired deficiency anemia";0
"Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency";0
"Rare hemorrhagic disorder";8
"Rare hemorrhagic disorder due to a coagulation factors defect";0
"Rare hemorrhagic disorder due to a platelet anomaly";0
"Isolated delta-storage pool disease";0
"Rare hemorrhagic disorder due to an acquired platelet anomaly";0
"Rare thrombotic disorder due to a coagulation factors defect";0
"Rare thrombotic disorder due to a constitutional coagulation factors defect";0
"Rare thrombotic disorder due to an acquired coagulation factors defect";0
"Rare thrombotic disorder due to a platelet anomaly";0
"Melnick-Needles syndrome";63
"Rare thrombotic disorder due to a constitutional platelet anomaly";0
"Rare thrombotic disorder due to an acquired platelet anomaly";0
"Familial hypodysfibrinogenemia";0
"Melorheostosis";181
"Transverse limb deficiency-hemangioma syndrome";0
"Lower limb deficiency-hypospadias syndrome";0
"Upper limb defect-eye and ear abnormalities syndrome";0
"Fibrous dysplasia of bone";1300
"Müllerian duct anomalies-limb anomalies syndrome";0
"Limb transversal defect-cardiac anomaly syndrome";0
"Ménétrier disease";48
"Meningioma";13502
"Meningioma";13502
"Mesomelia-synostoses syndrome";4
"Upper limb mesomelic dysplasia";0
"Syndactyly type 8";0
"Metachondromatosis";27
"Glutaryl-CoA dehydrogenase deficiency";61
"Frontonasal dysplasia";127
"Acrogeria";36
"Metaphyseal chondrodysplasia, Spahr type";0
"Genetic polycythemia";0
"Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome";0
"Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome";0
"Multiple benign circumferential skin creases on limbs";0
"Michels syndrome";8
"Corpus callosum agenesis-abnormal genitalia syndrome";0
"Serpinopathy";8
"Serpinopathy with toxic serpin polymerization";0
"Serpinopathy with loss of serpin function";0
"Logopenic progressive aphasia";36
"Rare neoplastic disease";26
"Isolated aniridia";14
"Autosomal dominant optic atrophy and peripheral neuropathy";0
"Polymicrogyria with optic nerve hypoplasia";0
"AICA-ribosiduria";4
"Autosomal recessive Stickler syndrome";4
"1q21.1 microdeletion syndrome";1
"1q21.1 microduplication syndrome";0
"1q41q42 microdeletion syndrome";5
"Multiple epiphyseal dysplasia";244
"Micro syndrome";41
"Paternal uniparental disomy of chromosome 1";0
"Maternal uniparental disomy of chromosome 1";0
"2q31.1 microdeletion syndrome";2
"2q32q33 microdeletion syndrome";2
"2q33.1 microdeletion syndrome";5
"3q29 microduplication";4
"Ring chromosome 5";6
"6p22 microdeletion syndrome";0
"6q25 microdeletion syndrome";0
"7q31 microdeletion syndrome";0
"8p11.2 deletion syndrome";0
"8p23.1 microdeletion syndrome";0
"8p23.1 duplication syndrome";4
"Microbrachycephaly-ptosis-cleft lip syndrome";0
"Autosomal recessive primary microcephaly";88
"Familial osteochondritis dissecans";9
"Familial hyperaldosteronism type III";8
"Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome";0
"Autosomal dominant spastic ataxia type 1";0
"Benign concentric annular macular dystrophy";8
"Parietal foramina with cleidocranial dysplasia";0
"Pigmented paravenous retinochoroidal atrophy";30
"Microcephaly-albinism-digital anomalies syndrome";0
"Infantile onset panniculitis with uveitis and systemic granulomatosis";0
"Idiopathic recurrent pericarditis";24
"Overlapping connective tissue disease";7
"Drug-induced vasculitis";64
"Unclassified vasculitis";12
"Unexplained long-lasting fever/inflammatory syndrome";0
"Ataxia-telangiectasia-like disorder";51
"Sickle cell disease associated with an other hemoglobin anomaly";0
"Sickle cell-beta-thalassemia disease syndrome";0
"Sickle cell-hemoglobin C disease syndrome";0
"Sickle cell-hemoglobin D disease syndrome";0
"Sickle cell-hemoglobin E disease syndrome";0
"Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome";0
"CK syndrome";7
"Localized junctional epidermolysis bullosa, non-Herlitz type";0
"Autosomal dominant microcephaly";12
"Microcephaly-cardiomyopathy syndrome";2
"46,XY partial gonadal dysgenesis";0
"Distal arthrogryposis type 10";0
"Recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome";0
"Toxic or drug-related embryofetopathy";0
"Maternal disease-related embryofetopathy";0
"Rare tumor of neuroepithelial tissue";0
"High-grade astrocytoma";244
"Gliosarcoma";527
"Giant cell glioblastoma";74
"Gliomatosis cerebri";263
"Anaplastic astrocytoma";1552
"Low-grade astrocytoma";536
"Diffuse astrocytoma";216
"Protoplasmic astrocytoma";21
"Microcephaly-cardiac defect-lung malsegmentation syndrome";0
"Fibrillary astrocytoma";148
"Gemistocytic astrocytoma";54
"Pleomorphic xanthoastrocytoma";325
"Pilocytic astrocytoma";1002
"Pilomyxoid astrocytoma";94
"Subependymal giant cell astrocytoma";258
"Pituicytoma";62
"Oligodendroglioma";3109
"Anaplastic oligodendroglioma";415
"Low grade ependymoma";15
"Ependymoma";3760
"Subependymoma";213
"Myxopapillary ependymoma";209
"Anaplastic ependymoma";205
"Oligoastrocytic tumor";0
"Oligoastrocytoma";400
"Anaplastic oligoastrocytoma";134
"Glial tumor of neuroepithelial tissue with unknown origin";0
"Angiocentric glioma";54
"Chordoid glioma";65
"Astroblastoma";96
"Autosomal recessive chorioretinopathy-microcephaly syndrome";0
"Embryonal tumor of neuroepithelial tissue";0
"Anaplastic/large cell medulloblastoma";0
"Medulloblastoma with extensive nodularity";0
"Desmoplastic/nodular medulloblastoma";13
"Classic medulloblastoma";39
"Central nervous system primitive neuroectodermal tumor";23
"Ganglioneuroblastoma";582
"Ependymoblastoma";137
"Medulloepithelioma of the central nervous system";0
"Choroid plexus tumor";38
"Choroid plexus carcinoma";223
"Microcephaly-seizures-intellectual disability-heart disease syndrome";0
"Atypical papilloma of choroid plexus";0
"Pineal tumor of neuroepithelial tissue";0
"Pineoblastoma";251
"Pineocytoma";169
"Papillary tumor of the pineal region";52
"Pineal parenchymal tumor of intermediate differenciation";0
"Neuronal tumor";75
"Extraventricular neurocytoma";67
"Cerebellar liponeurocytoma";38
"Mixed neuronal-glial tumor";10
"Gangliocytoma";223
"Desmoplastic infantile astrocytoma/ganglioglioma";4
"Dysembryoplastic neuroepithelial tumor";237
"Ganglioglioma";1041
"Anaplastic ganglioglioma";46
"Papillary glioneuronal tumor";58
"Rosette-forming glioneuronal tumor of fourth ventricule";0
"Ganglioneuroma";1591
"Primary germ cell tumor of central nervous system";0
"Yolk sac tumor of central nervous system";0
"Choriocarcinoma of the central nervous system";0
"Teratoma of the central nervous system";2
"Mixed germ cell tumor of central nervous system";0
"Tumor of meninges";3
"Primary melanocytic tumor of central nervous system";0
"Diffuse leptomeningeal melanocytosis";4
"Meningeal melanocytoma";100
"Primary melanoma of the central nervous system";0
"Hemangioblastoma";1378
"Tumor of cranial and spinal nerves";0
"Microcephaly-cleft palate syndrome";0
"Malignant perineurioma";10
"Benign peripheral nerve sheath tumor";48
"Benign schwannoma";292
"Vestibular schwannoma";1671
"Neurofibroma";3123
"Inherited nervous system cancer-predisposing syndrome";0
"Microcephaly-cervical spine fusion anomalies syndrome";0
"Constitutional mismatch repair deficiency syndrome";32
"Melanoma and neural system tumor syndrome";0
"Malignant triton tumor";77
"Microcephaly-brain defect-spasticity-hypernatremia syndrome";0
"Pontocerebellar hypoplasia type 2";19
"Microcephaly-lymphedema-chorioretinopathy syndrome";0
"Microcephaly-microcornea syndrome, Seemanova type";0
"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia";0
"Microcephaly-deafness-intellectual disability syndrome";0
"Microcornea-corectopia-macular hypoplasia syndrome";0
"Microcornea-glaucoma-absent frontal sinuses syndrome";0
"Microgastria-limb reduction defect syndrome";0
"Spondylometaphyseal dysplasia";75
"Isolated anophthalmia-microphthalmia syndrome";0
"Autosomal recessive intermediate Charcot-Marie-Tooth disease type B";0
"Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome";0
"19p13.12 microdeletion syndrome";0
"Distal 7q11.23 microdeletion syndrome";0
"Autosomal recessive limb-girdle muscular dystrophy type 2Q";0
"Rare lichen planus";0
"Rare cutaneous lichen planus";0
"Rare mucosal lichen planus";0
"Linear lichen planus";25
"Actinic lichen planus";21
"Annular atrophic lichen planus";7
"Annular lichen planus";10
"Atrophic lichen planus";14
"Lichen planus pigmentosus";48
"Lichen planus pemphigoides";68
"Frontal fibrosing alopecia";88
"Inhalational botulism";8
"Iatrogenic botulism";9
"Motor developmental delay due to 14q32.2 paternally expressed gene defect";0
"Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect";0
"Paternal 14q32.2 microdeletion syndrome";0
"Maternal 14q32.2 microdeletion syndrome";0
"Paternal 14q32.2 hypomethylation syndrome";0
"Maternal 14q32.2 hypermethylation syndrome";0
"Gestational trophoblastic disease";1432
"Complete hydatidiform mole";414
"Partial hydatidiform mole";261
"Epithelioid trophoblastic tumor";94
"Microphthalmia-microtia-fetal akinesia syndrome";0
"Genetic hyperferritinemia without iron overload";0
"Faisalabad histiocytosis";8
"Familial sinus histiocytosis with massive lymphadenopathy";0
"Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome";3
"Pyruvate metabolism disorder";0
"Tricarboxylic acid cycle disorder";0
"Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies";0
"Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA";0
"Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA";0
"Maternally-inherited mitochondrial myopathy";0
"Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA";0
"Mitochondrial DNA depletion syndrome, encephalomyopathic form";0
"Multiple mitochondrial DNA deletion syndrome";0
"Ataxia neuropathy spectrum";10
"Mitochondrial oxidative phosphorylation disorder with no known mechanism";0
"Mitochondrial membrane transport disorder";0
"Mitochondrial substrate carrier disorder";0
"Mitochondrial protein import disorder";0
"Unspecified mitochondrial disorder";0
"Exercise intolerance with lactic acidosis";0
"Isolated oxidative phosphorylation complex disorder";0
"Maternally-inherited mitochondrial dystonia";0
"Pure mitochondrial myopathy";3
"Lethal infantile mitochondrial myopathy";0
"Mitochondrial myopathy with reversible cytochrome C oxidase deficiency";0
"Mitochondrial DNA depletion syndrome, hepatocerebral form";0
"Mitochondrial DNA depletion syndrome, myopathic form";4
"Spinocerebellar ataxia with epilepsy";3
"Autosomal recessive progressive external ophthalmoplegia";5
"Autosomal dominant progressive external ophthalmoplegia";59
"Deafness-encephaloneuropathy-obesity-valvulopathy syndrome";0
"Oculoauriculovertebral spectrum with radial defects";0
"Renal tubulopathy-encephalopathy-liver failure syndrome";0
"Isolated cytochrome C oxidase deficiency";11
"Isolated ATP synthase deficiency";0
"Combined oxidative phosphorylation defect type 2";0
"Combined oxidative phosphorylation defect type 4";0
"Combined oxidative phosphorylation defect type 7";0
"Dopa-responsive dystonia";337
"Microspherophakia-metaphyseal dysplasia syndrome";0
"Adult-onset autosomal recessive sideroblastic anemia";0
"Pyruvate dehydrogenase E1-beta deficiency";0
"Pyruvate dehydrogenase E3-binding protein deficiency";4
"Microsporidiosis";702
"Maternally-inherited Leigh syndrome";20
"Navajo neurohepatopathy";8
"Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy";0
"Leigh syndrome with leukodystrophy";0
"Leigh syndrome with nephrotic syndrome";0
"Ear-patella-short stature syndrome";3
"Microphthalmia with linear skin defects syndrome";13
"Mietens syndrome";0
"Mikati-Najjar-Sahli syndrome";0
"Early-onset generalized limb-onset dystonia";0
"Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome";0
"Ackerman syndrome";2
"MOMO syndrome";7
"Tetramelic monodactyly";2
"Mononen-Karnes-Senac syndrome";0
"Chronic Epstein-Barr virus infection syndrome";1
"Moore-Federman syndrome";4
"Epidermolysis bullosa simplex with muscular dystrophy";20
"Holoprosencephaly-hypokinesia-congenital contractures syndrome";0
"X-linked immunoneurologic disorder";0
"Spastic ataxia-corneal dystrophy syndrome";0
"Moyamoya disease";2377
"Moynahan syndrome";1
"Cystic fibrosis-gastritis-megaloblastic anemia syndrome";0
"MULIBREY nanism";40
"Mayer-Rokitansky-Küster-Hauser syndrome type 2";0
"Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome";0
"Congenital muscular dystrophy type 1A";11
"Shoulder and girdle defects-familial intellectual disability syndrome";0
"Myalgia-eosinophilia syndrome associated with tryptophan";0
"Mycetoma";1129
"Classic mycosis fungoides";15
"Ataxia-pancytopenia syndrome";3
"Myeloperoxidase deficiency";130
"Myhre syndrome";26
"Myoclonus-cerebellar ataxia-deafness syndrome";0
"Spinal muscular atrophy-progressive myoclonic epilepsy syndrome";0
"Infantile myofibromatosis";236
"Tubular aggregate myopathy";26
"Myopathy and diabetes mellitus";0
"Benign occipital epilepsy";25
"Mitochondrial myopathy-lactic acidosis-deafness syndrome";0
"Mitochondrial myopathy and sideroblastic anemia";8
"X-linked myopathy with excessive autophagy";27
"Methylmalonic acidemia with homocystinuria";31
"Myopathy-growth delay-intellectual disability-hypospadias syndrome";0
"Autosomal recessive sideroblastic anemia";0
"Familial visceral myopathy";25
"N syndrome";7
"Isolated complex I deficiency";63
"Emery-Dreifuss muscular dystrophy";495
"Hereditary diffuse gastric cancer";190
"Linear verrucous nevus syndrome";0
"Distal 7q11.23 microduplication syndrome";0
"Monosomy 9p";37
"14q11.2 microdeletion syndrome";1
"14q12 microdeletion syndrome";0
"15q11.2 microdeletion syndrome";0
"15q14 microdeletion syndrome";0
"Proximal 16p11.2 microdeletion syndrome";0
"Linear nevus sebaceus syndrome";7
"16p11.2p12.2 microduplication syndrome";0
"16p11.2p12.2 microdeletion syndrome";0
"Distal 16p11.2 microdeletion syndrome";0
"14q11.2 microduplication syndrome";0
"16p13.11 microdeletion syndrome";2
"16p13.11 microduplication syndrome";0
"16q24.3 microdeletion syndrome";3
"Distal 17p13.3 microdeletion syndrome";0
"17q12 microdeletion syndrome";6
"17q12 microduplication syndrome";0
"17q23.1q23.2 microdeletion syndrome";0
"Trisomy 17p";19
"20p12.3 microdeletion syndrome";0
"Nail-patella-like renal disease";2
"Paternal 20q13.2q13.3 microdeletion syndrome";0
"20q13.33 microdeletion syndrome";0
"Trisomy 20p";28
"21q22.11q22.12 microdeletion syndrome";0
"Distal 22q11.2 microdeletion syndrome";2
"Distal 22q11.2 microduplication syndrome";0
"Trisomy 1q";136
"2p15p16.1 microdeletion syndrome";3
"Juvenile temporal arteritis";13
"Nail-patella syndrome";245
"Monosomy Xp21";0
"Xq27.3q28 duplication syndrome";0
"Kleefstra syndrome";27
"Nakajo-Nishimura syndrome";8
"Atypical Norrie disease due to monosomy Xp11.3";0
"Maternal uniparental disomy of chromosome X";0
"Paternal uniparental disomy of chromosome X";0
"Ring chromosome Y";0
"49,XXXYY syndrome";0
"Mowat-Wilson syndrome due to monosomy 2q22";0
"Mowat-Wilson syndrome due to a ZEB2 point mutation";0
"Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome";0
"Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome";0
"Blepharophimosis-epicanthus inversus-ptosis due to copy number variations";0
"Familial adenomatous polyposis due to 5q22.2 microdeletion";0
"3M syndrome";22
"Alagille syndrome due to 20p12 microdeletion";0
"Alagille syndrome due to a JAG1 point mutation";0
"Alagille syndrome due to a NOTCH2 point mutation";0
"Okihiro syndrome due to 20q13 microdeletion";0
"Okihiro syndrome due to a point mutation";0
"Kleefstra syndrome due to a point mutation";0
"Anomaly of chromosome 1";0
"Bird headed-dwarfism, Montreal type";0
"Anomaly of chromosome 2";0
"Anomaly of chromosome 3";0
"Anomaly of chromosome 4";0
"Anomaly of chromosome 5";0
"Anomaly of chromosome 6";0
"Anomaly of chromosome 7";0
"Anomaly of chromosome 8";0
"Anomaly of chromosome 9";0
"Anomaly of chromosome 10";0
"Anomaly of chromosome 11";0
"Anomaly of chromosome 12";0
"Anomaly of chromosome 13";0
"Anomaly of chromosome 14";0
"Anomaly of chromosome 15";0
"Anomaly of chromosome 16";0
"Anomaly of chromosome 17";0
"Anomaly of chromosome 18";0
"Anomaly of chromosome 19";0
"Anomaly of chromosome 20";0
"Anomaly of chromosome 21";0
"Anomaly of chromosome 22";0
"Partial deletion of chromosome 1";0
"Partial deletion of chromosome 2";0
"Partial deletion of chromosome 3";0
"Partial deletion of chromosome 4";0
"Partial deletion of chromosome 5";0
"Partial deletion of chromosome 6";0
"Partial deletion of chromosome 7";0
"Partial deletion of chromosome 8";0
"Partial deletion of chromosome 9";0
"Partial deletion of chromosome 10";0
"Partial deletion of chromosome 11";0
"Partial deletion of the long arm of chromosome 12";0
"Partial deletion of chromosome 16";0
"Partial deletion of chromosome 17";0
"Partial deletion of chromosome 18";0
"Partial deletion of chromosome 19";0
"Partial deletion of chromosome 20";0
"Partial deletion of the short arm of chromosome 1";0
"Partial deletion of the short arm of chromosome 2";0
"Partial deletion of the short arm of chromosome 3";0
"Partial deletion of the short arm of chromosome 4";0
"Partial deletion of the short arm of chromosome 5";0
"Brachydactylous dwarfism, Mseleni type";0
"Partial deletion of the short arm of chromosome 6";0
"Partial deletion of the short arm of chromosome 7";0
"Partial deletion of the short arm of chromosome 8";0
"Partial deletion of the short arm of chromosome 9";0
"Partial deletion of the short arm of chromosome 10";0
"Partial deletion of the short arm of chromosome 11";0
"Partial deletion of the short arm of chromosome 16";0
"Partial monosomy of the short arm of chromosome 17";0
"Partial deletion of the short arm of chromosome 18";0
"Partial deletion of the short arm of chromosome 19";0
"Partial monosomy of the short arm of chromosome 20";0
"Duchenne and Becker muscular dystrophy";269
"Partial deletion of the long arm of chromosome 1";0
"Partial deletion of the long arm of chromosome 2";0
"Partial deletion of the long arm of chromosome 3";0
"Partial deletion of the long arm of chromosome 4";0
"Partial deletion of the long arm of chromosome 5";0
"Partial deletion of the long arm of chromosome 6";0
"Partial deletion of the long arm of chromosome 7";0
"Partial deletion of the long arm of chromosome 8";0
"Partial monosomy of the long arm of chromosome 9";0
"Partial monosomy of the long arm of chromosome 10";0
"Partial deletion of the long arm of chromosome 11";0
"Partial deletion of the long arm of chromosome 13";0
"Partial deletion of the long arm of chromosome 14";0
"Partial deletion of the long arm of chromosome 15";0
"Partial deletion of the long arm of chromosome 16";0
"Partial deletion of the long arm of chromosome 17";0
"Partial deletion of the long arm of chromosome 18";0
"Partial deletion of the long arm of chromosome 19";0
"Partial deletion of the long arm of chromosome 20";0
"Partial deletion of the long arm of chromosome 21";0
"Partial deletion of the long arm of chromosome 22";0
"Partial duplication of chromosome 1";0
"Partial duplication of chromosome 2";0
"Partial duplication of chromosome 3";0
"Partial duplication of chromosome 4";0
"Partial trisomy/tetrasomy of chromosome 5";0
"Geleophysic dysplasia";37
"Partial duplication of chromosome 6";0
"Partial duplication of chromosome 7";0
"Partial duplication of chromosome 8";0
"Partial trisomy/tetrasomy of chromosome 9";0
"Partial duplication of chromosome 10";0
"Partial duplication of chromosome 11";0
"Partial trisomy/tetrasomy of the short arm of chromosome 12";0
"Partial duplication of chromosome 16";0
"Partial duplication of chromosome 17";0
"Partial trisomy/tetrasomy of chromosome 18";0
"Partial duplication of chromosome 19";0
"Partial trisomy of chromosome 20";0
"Partial duplication of the short arm of chromosome 2";0
"Partial duplication of the short arm of chromosome 3";0
"Partial duplication of the short arm of chromosome 4";0
"Partial trisomy/tetrasomy of the short arm of chromosome 5";0
"Partial duplication of the short arm of chromosome 6";0
"Partial duplication of the short arm of chromosome 7";0
"Partial duplication of the short arm of chromosome 8";0
"Partial trisomy of the short arm of chromosome 9";0
"Partial duplication of the short arm of chromosome 10";0
"Partial duplication of the short arm of chromosome 11";0
"Partial duplication of the short arm of chromosome 16";0
"Partial duplication of the short arm of chromosome 17";0
"Partial trisomy/tetrasomy of the short arm of chromosome 18";0
"Partial duplication of the long arm of chromosome 1";0
"Partial duplication of the long arm of chromosome 2";0
"Partial duplication of the long arm of chromosome 3";0
"Partial duplication of the long arm of chromosome 4";0
"Partial trisomy of the long arm of chromosome 5";0
"Partial duplication of the long arm of chromosome 6";0
"Partial duplication of the long arm of chromosome 7";0
"Partial duplication of the long arm of chromosome 8";0
"Partial trisomy of the long arm of chromosome 9";0
"Partial duplication of the long arm of chromosome 10";0
"Partial duplication of the long arm of chromosome 11";0
"Partial duplication of the long arm of chromosome 13";0
"Partial duplication of the long arm of chromosome 14";0
"Partial duplication of the long arm of chromosome 15";0
"Partial trisomy of the long arm of chromosome 16";0
"Partial duplication of the long arm of chromosome 17";0
"Partial trisomy of the long arm of chromosome 18";0
"Partial duplication of the long arm of chromosome 19";0
"Partial trisomy of the long arm of chromosome 20";0
"Limb-girdle muscular dystrophy";1144
"Partial duplication of the long arm of chromosome 22";0
"Uniparental disomy of chromosome 1";0
"Uniparental disomy of chromosome 6";0
"Uniparental disomy of chromosome 7";0
"Uniparental disomy of chromosome 11";8
"Uniparental disomy of chromosome 13";0
"Uniparental disomy of chromosome 14";19
"Uniparental disomy of chromosome 15";23
"Uniparental disomy of chromosome 20";0
"Uniparental disomy of chromosome 21";0
"Mesomelic dwarfism-cleft palate-camptodactyly syndrome";0
"Langer mesomelic dysplasia";39
"Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency";0
"Mesomelic dwarfism, Nievergelt type";0
"Thymoma type A";4
"Thymoma type B";1
"Thymoma type AB";7
"Well-differentiated thymic neuroendocrine carcinoma";0
"Moderately-differentiated thymic neuroendocrine carcinoma";0
"Poorly differentiated thymic neuroendocrine carcinoma";0
"MRCS syndrome";1
"Postcardiotomy right ventricular failure";3
"ATR-X-related syndrome";0
"Mesomelic dwarfism, Reinhardt-Pfeiffer type";0
"Infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome";0
"Angiosarcoma";3276
"Bartter syndrome with hypocalcemia";0
"Nevus of Ota";281
"Nevus of Ito";16
"Congenital smooth muscle hamartoma";24
"Neuroacanthocytosis";167
"Hyperinsulinism due to HNF4A deficiency";0
"Hyperinsulinism due to INSR deficiency";0
"CHST3-related skeletal dysplasia";0
"Fuchs heterochromic iridocyclitis";68
"Acquired prothrombin deficiency";7
"Spondyloepiphyseal dysplasia, Maroteaux type";0
"COG5-CDG";2
"Protein S acquired deficiency";0
"DPM3-CDG";0
"Metatropic dysplasia";48
"COG4-CDG";0
"COG1-CDG";1
"Progressive myoclonic epilepsy type 3";0
"Acute necrotizing encephalopathy of childhood";21
"Acral peeling skin syndrome";15
"Generalized peeling skin syndrome";4
"Peeling skin syndrome type A";0
"Peeling skin syndrome type B";5
"Generalized peeling skin syndrome type C";0
"Microcephalic osteodysplastic primordial dwarfism types I and III";0
"Familial multiple meningioma";0
"NK-cell enteropathy";3
"Hereditary epidermolysis bullosa associated with ocular features";0
"Microcephalic osteodysplastic primordial dwarfism type II";33
"Complex chromosomal rearrangement";127
"X chromosome anomaly";0
"X chromosome number anomaly";0
"X chromosome number anomaly with female phenotype";0
"X chromosome number anomaly with male phenotype";0
"Polysomy of X chromosome";0
"Partial deletion of chromosome X";0
"Partial monosomy of the short arm of chromosome X";0
"Y chromosome number anomaly";0
"X and Y chromosomal anomaly";0
"Partial deletion of the long arm of chromosome X";0
"Partial duplication of chromosome X";0
"Partial duplication of the short arm of chromosome X";0
"Partial duplication of the long arm of chromosome X";0
"Uniparental disomy of chromosome X";0
"Y chromosomal anomaly";0
"Fibular aplasia-complex brachydactyly syndrome";0
"Autosomal dominant limb-girdle muscular dystrophy type 1B";0
"Lethal short-limb dwarfism, McAlister-Crane type";0
"Micromelic dwarfism, Fryns type";0
"14q22q23 microdeletion syndrome";0
"Microcephalic primordial dwarfism, Toriello type";0
"Partial duplication of the short arm of chromosome 1";0
"Trisomy 8p";26
"Osteoglophonic dwarfism";4
"Glycogen storage disease due to liver phosphorylase kinase deficiency";0
"Parastremmatic dwarfism";4
"Interstitial lung disease specific to childhood";0
"Primary interstitial lung disease specific to childhood";0
"Primary interstitial lung disease specific to childhood due to alveolar structure disorder";0
"Hereditary pulmonary alveolar proteinosis";8
"Primary interstitial lung disease specific to childhood due to alveolar vascular disorder";0
"Congenital chylothorax";108
"Isolated pulmonary capillaritis";7
"Interstitial lung disease specific to infancy";0
"Secondary interstitial lung disease specific to childhood associated with a systemic disease";0
"Secondary interstitial lung disease specific to childhood associated with a connective tissue disease";0
"Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis";0
"Secondary interstitial lung disease specific to childhood associated with a granulomatous disease";0
"Secondary interstitial lung disease specific to childhood associated with a metabolic disease";0
"Langerhans cell histiocytosis specific to childhood";0
"Interstitial lung disease specific to adulthood";0
"Primary interstitial lung disease specific to adulthood";0
"Secondary interstitial lung disease specific to adulthood associated with a systemic disease";0
"Langerhans cell histiocytosis specific to adulthood";0
"Interstitial lung disease in childhood and adulthood";0
"Primary interstitial lung disease in childhood and adulthood";0
"Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome";0
"Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder";0
"Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder";0
"Secondary interstitial lung disease in childhood and adulthood";0
"Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease";0
"Langerhans cell histiocytosis in childhood and adulthood";0
"Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease";0
"Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis";0
"Drug or radiation exposure-related interstitial lung disease";0
"Exposure-related interstitial lung disease";0
"Genetic interstitial lung disease";0
"Autosomal dominant limb-girdle muscular dystrophy type 1C";0
"Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome";0
"Syndesmodysplasic dwarfism";0
"Thanatophoric dysplasia";341
"Lenz-Majewski hyperostotic dwarfism";7
"Autosomal dominant limb-girdle muscular dystrophy type 1A";0
"Dwarfism-tall vertebrae syndrome";0
"Keipert syndrome";5
"Nathalie syndrome";4
"Congenital mesoblastic nephroma";230
"Adult familial nephronophthisis-spastic quadriparesia syndrome";0
"Nephropathy-deafness-hyperparathyroidism syndrome";0
"Nephrosis-deafness-urinary tract-digital malformations syndrome";0
"Autosomal recessive limb-girdle muscular dystrophy type 2A";0
"Pierson syndrome";36
"Neu-Laxova syndrome";47
"Neuhauser-Eichner-Opitz syndrome";1
"Neurofaciodigitorenal syndrome";1
"Cyprus facial-neuromusculoskeletal syndrome";0
"Neuroectodermal-endocrine syndrome";0
"Neuroepithelioma";279
"Neurofibromatosis type 6";0
"Infantile axonal neuropathy";2
"Pseudomyxoma peritonei";937
"Multiple acyl-CoA dehydrogenase deficiency";83
"Short chain acyl-CoA dehydrogenase deficiency";47
"Very long chain acyl-CoA dehydrogenase deficiency";101
"Autosomal recessive limb-girdle muscular dystrophy type 2B";0
"Hypomyelination neuropathy-arthrogryposis syndrome";0
"RAS-associated autoimmune leukoproliferative disease";0
"Spheroid body myopathy";10
"Intraocular medulloepithelioma";23
"Classic maple syrup urine disease";8
"Intermediate maple syrup urine disease";7
"Intermittent maple syrup urine disease";6
"Thiamine-responsive maple syrup urine disease";3
"Mycophenolate mofetil embryopathy";4
"DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion";0
"Complication in hemodialysis";0
"Hereditary thrombocytopenia with normal platelets";0
"Autosomal recessive intermediate Charcot-Marie-Tooth disease";0
"Neural tube closure defect";11
"Open iniencephaly";0
"Closed iniencephaly";0
"Spina bifida aperta";102
"Total spina bifida aperta";0
"Thoracolumbosacral spina bifida aperta";0
"Lumbosacral spina bifida aperta";0
"Cervical spina bifida aperta";0
"Cervicothoracic spina bifida aperta";0
"Cyclic neutropenia";267
"Neutropenia-hyperlymphocytosis with large granular lymphocytes syndrome";0
"Upper thoracic spina bifida aperta";0
"Spina bifida cystica";242
"Total spina bifida cystica";0
"Thoracolumbosacral spina bifida cystica";0
"Lumbosacral spina bifida cystica";0
"Cervical spina bifida cystica";0
"Cervicothoracic spina bifida cystica";0
"Upper thoracic spina bifida cystica";0
"Adult idiopathic neutropenia";0
"Posterior meningocele";5
"Myelocystocele";76
"Cephalocele";141
"Cranial meningocele";7
"Occipital encephalocele";201
"Parietal encephalocele";11
"Basal encephalocele";57
"Lipoma associated with neurospinal dysraphism";0
"Lipomyelomeningocele";188
"Leptomyelolipoma";2
"Malformation of the neurenteric canal, spinal cord and column";0
"Primary tethered cord syndrome";9
"Neurenteric cyst";191
"Isolated amyelia";0
"Arnold-Chiari malformation type I";25
"Intermittent neutropenia";31
"Isolated megalencephaly";0
"Midline cerebral malformation";0
"Isolated arhinencephaly";0
"Bilateral polymicrogyria";22
"Unilateral polymicrogyria";21
"Unilateral focal polymicrogyria";1
"Cerebral cortical dysplasia";28
"Isolated focal cortical dysplasia type I";0
"Isolated focal cortical dysplasia type Ia";0
"Isolated focal cortical dysplasia type Ib";0
"Isolated focal cortical dysplasia type Ic";0
"Isolated focal cortical dysplasia type II";0
"Facioscapulohumeral dystrophy";197
"Neutropenia-monocytopenia-deafness syndrome";0
"Isolated focal cortical dysplasia type IIa";0
"Isolated focal cortical dysplasia type IIb";0
"Nevo syndrome";5
"Encephaloclastic disorder";0
"Central nervous system cystic malformation";0
"Glioependymal/ependymal cyst";0
"Retrocerebellar cyst";15
"Isolated cerebellar vermis agenesis";0
"Isolated total cerebellar vermis agenesis";0
"Isolated partial cerebellar vermis agenesis";0
"Isolated Dandy-Walker malformation with hydrocephalus";0
"Isolated Dandy-Walker malformation without hydrocephalus";0
"Isolated unilateral hemispheric cerebellar hypoplasia";0
"Isolated bilateral hemispheric cerebellar hypoplasia";0
"Global cerebellar malformation";0
"Pontine tegmental cap dysplasia";17
"Bifid nose";37
"Congenital communicating hydrocephalus";7
"Congenital non-communicating hydrocephalus";0
"Syndrome with a cerebellar malformation as major feature";0
"Syndrome with microcephaly as major feature";0
"Other syndrome with a central nervous system malformation as major feature";0
"Syndrome with a Dandy-Walker malformation as major feature";0
"Genetic non-syndromic central nervous system malformation";0
"Genetic cerebral malformation";0
"Genetic posterior fossa malformation";0
"Genetic cerebellar malformation";0
"Genetic syndrome with a central nervous system malformation as major feature";0
"Genetic syndrome with a cerebellar malformation as major feature";0
"Genetic syndrome with a Dandy-Walker malformation as major feature";0
"Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature";0
"Arthrogryposis-renal dysfunction-cholestasis syndrome";20
"Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome";0
"Median nodule of the upper lip";0
"Vitamin B12-unresponsive methylmalonic acidemia";3
"Oculopharyngeal muscular dystrophy";327
"Noma";1330
"Noonan syndrome-like disorder with loose anagen hair";1
"Port-wine nevi-mega cisterna magna-hydrocephalus syndrome";0
"Ochoa syndrome";24
"Oculocerebral dysplasia";0
"Oculocerebrofacial syndrome, Kaufman type";0
"Oculodental syndrome, Rutherfurd type";0
"Oculodentodigital dysplasia";90
"Oculofaciocardiodental syndrome";13
"Oculoosteocutaneous syndrome";0
"Oculo-palato-cerebral syndrome";2
"Oculorenocerebellar syndrome";0
"Oculo-skeletal-renal syndrome";0
"Oculotrichoanal syndrome";3
"Oculotrichodysplasia";1
"Genetic soft tissue tumor";0
"Genetic digestive tract tumor";0
"Genetic cardiac tumor";0
"Genetic urogenital tumor";0
"Genetic neuroendocrine tumor";0
"Genetic cardiac anomaly";0
"Hereditary ATTR amyloidosis";15
"Rare genetic systemic or rheumatologic disease";0
"Oculocerebral hypopigmentation syndrome, Cross type";0
"Congenital muscular dystrophy, Fukuyama type";0
"Oculocerebral hypopigmentation syndrome, Preus type";0
"Odonto-onycho-dermal dysplasia";13
"Odonto-onycho dysplasia-alopecia syndrome";0
"Odontotrichomelic syndrome";2
"Odontomatosis-aortae esophagus stenosis syndrome";0
"Eye defects-arachnodactyly-cardiopathy syndrome";0
"Blepharophimosis-intellectual disability syndrome, Ohdo type";0
"Okamoto syndrome";2
"Steinert myotonic dystrophy";18
"Postaxial tetramelic oligodactyly";0
"Taurodontia-absent teeth-sparse hair syndrome";0
"Olivopontocerebellar atrophy-deafness syndrome";0
"Omodysplasia";17
"Lethal omphalocele-cleft palate syndrome";0
"Onchocerciasis";2263
"Onycho-tricho-dysplasia-neutropenia syndrome";0
"Bernard-Soulier syndrome";484
"Ophthalmomandibulomelic dysplasia";0
"Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome";0
"Horizontal gaze palsy with progressive scoliosis";31
"Opitz G/BBB syndrome";44
"Opsismodysplasia";15
"Oromandibular-limb hypogenesis syndrome";15
"Severe combined immunodeficiency due to DCLRE1C deficiency";0
"Orofaciodigital syndrome type 1";2
"Orofaciodigital syndrome type 2";0
"Orofaciodigital syndrome type 3";0
"Orofaciodigital syndrome type 4";0
"Joubert syndrome with orofaciodigital defect";0
"Orofaciodigital syndrome type 8";0
"Autoimmune lymphoproliferative syndrome with recurrent viral infections";0
"Dianzani autoimmune lymphoproliferative disease";7
"Myostatin-related muscle hypertrophy";4
"L1 syndrome";21
"Preeclampsia";13343
"Orofaciodigital syndrome type 10";0
"Rare hemorrhagic disorder due to a constitutional thrombocytopenia";0
"Rare hemorrhagic disorder due to a qualitative platelet defect";0
"Genetic infertility";7
"Alpha-thalassemia and related diseases";0
"Beta-thalassemia and related diseases";0
"Sickle cell disease and related diseases";0
"Lysosomal acid lipase deficiency";41
"Idiopathic pulmonary arterial hypertension";668
"Heritable pulmonary arterial hypertension";60
"Drug- or toxin-induced pulmonary arterial hypertension";0
"Pulmonary arterial hypertension associated with another disease";0
"Pulmonary arterial hypertension associated with connective tissue disease";0
"Pulmonary arterial hypertension associated with congenital heart disease";40
"Pulmonary arterial hypertension associated with HIV infection";1
"Pulmonary arterial hypertension associated with portal hypertension";3
"Pulmonary arterial hypertension associated with schistosomiasis";0
"Pulmonary arterial hypertension associated with chronic hemolytic anemia";0
"Pulmonary hypertension owing to lung disease and/or hypoxia";0
"Pulmonary hypertension with unclear multifactorial mechanism";0
"Syndrome with pulmonary hypertension as a major feature";0
"Behavioral variant of frontotemporal dementia";94
"Frontotemporal dementia with motor neuron disease";38
"Imperforate oropharynx-costo vetebral anomalies syndrome";0
"Hemolytic disease due to fetomaternal alloimmunization";0
"Hemolytic disease of the newborn with Kell alloimmunization";0
"T-B+ severe combined immunodeficiency due to gamma chain deficiency";0
"OSLAM syndrome";0
"Genetic neurodegenerative disease with dementia";0
"Genetic frontotemporal degeneration with dementia";0
"Bile acid CoA ligase deficiency and defective amidation";0
"Rare tumor of salivary glands";0
"Malignant epithelial tumor of salivary glands";0
"Benign epithelial tumor of salivary glands";0
"Multiple endocrine neoplasia type 4";8
"Multiple endocrine neoplasia";5019
"Idiopathic recurrent stupor";6
"Spinocerebellar ataxia type 32";0
"Spinocerebellar ataxia type 35";3
"Spinocerebellar ataxia type 36";7
"Progressive osseous heteroplasia";61
"Mucopolysaccharidosis type 6, rapidly progressing";0
"Mucopolysaccharidosis type 6, slowly progressing";0
"Non-syndromic male infertility due to sperm motility disorder";0
"Machado-Joseph disease type 1";0
"Machado-Joseph disease type 2";0
"Machado-Joseph disease type 3";0
"Hemihyperplasia-multiple lipomatosis syndrome";4
"Osteocraniostenosis";10
"Familial multinodular goiter";3
"Osteochondritis dissecans";1292
"Limbic encephalitis with caspr2 antibodies";0
"Hyperbiliverdinemia";1
"10q22.3q23.3 microdeletion syndrome";0
"10q22.3q23.3 microduplication syndrome";0
"Hypnic headache";108
"Premature aging appearance-developmental delay-cardiac arrhythmia syndrome";0
"Lower motor neuron syndrome with late-adult onset";0
"Familial hyperinsulinism";25
"Hyperinsulinism due to UCP2 deficiency";0
"Autosomal dominant hyperinsulinism due to SUR1 deficiency";0
"Autosomal dominant hyperinsulinism due to Kir6.2 deficiency";0
"Diazoxide-resistant hyperinsulinism";0
"Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency";0
"Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency";0
"Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia";0
"Sporadic pheochromocytoma/secreting paraganglioma";0
"Sporadic pheochromocytoma";71
"Sporadic secreting paraganglioma";0
"Symptomatic form of Coffin-Lowry syndrome in female carriers";0
"Carpotarsal osteochondromatosis";2
"Blount disease";110
"Familial osteodysplasia, Anderson type";0
"Severe combined immunodeficiency due to adenosine deaminase deficiency";63
"Nasu-Hakola disease";73
"Bruck syndrome";33
"Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome";0
"Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome";0
"Multicentric carpo-tarsal osteolysis with or without nephropathy";0
"Autosomal recessive carpotarsal osteolysis";0
"Autosomal recessive distal osteolysis syndrome";0
"Osteomesopyknosis";4
"Osteopathia striata-pigmentary dermopathy-white forelock syndrome";0
"Osteopathia striata-cranial sclerosis syndrome";0
"Osteopetrosis";1209
"Autosomal dominant osteopetrosis type 1";0
"Osteopetrosis with renal tubular acidosis";17
"Osteoporosis-oculocutaneous hypopigmentation syndrome";0
"Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome";0
"Osteoporosis-pseudoglioma syndrome";66
"Lateral meningocele syndrome";10
"Autosomal dominant osteosclerosis, Worth type";0
"Otodental syndrome";14
"Otofaciocervical syndrome";2
"Otoonychoperoneal syndrome";0
"Polycystic ovaries-urethral sphincter dysfunction syndrome";0
"Pachydermoperiostosis";141
"Pachygyria-intellectual disability-epilepsy syndrome";0
"Spasmus nutans";58
"Acute endophthalmitis";119
"Chronic endophthalmitis";52
"Toxic maculopathy due to antimalarial drugs";0
"Primary oculocerebral lymphoma";0
"Primary intraocular lymphoma";123
"Primary organ-specific lymphoma";0
"Intermediate uveitis";493
"Infectious posterior uveitis";26
"Infectious anterior uveitis";3
"Infectious panuveitis";0
"Paraneoplastic uveitis";0
"Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency";0
"Hereditary neutrophilia";3
"Postorgasmic illness syndrome";5
"Vitamin B12-responsive methylmalonic acidemia";4
"Wolf-Hirschhorn syndrome";349
"Extramammary Paget disease";999
"Calciphylaxis";615
"Calciphylaxis cutis";3
"Visceral calciphylaxis";3
"ALG11-CDG";3
"Juvenile Paget disease";11
"Complement component 3 deficiency";2
"Severe combined immunodeficiency due to LCK deficiency";0
"Methylmalonic aciduria due to transcobalamin receptor defect";0
"Septopreoptic holoprosencephaly";2
"X-linked sideroblastic anemia and ataxia";0
"Microform holoprosencephaly";0
"Laryngotracheoesophageal cleft type 0";0
"Pelizaeus-Merzbacher disease, connatal form";0
"Pelizaeus-Merzbacher disease, classic form";0
"Pelizaeus-Merzbacher disease, transitional form";0
"Pelizaeus-Merzbacher disease in female carriers";0
"Null syndrome";7
"Pelizaeus-Merzbacher-like disease";48
"Pelizaeus-Merzbacher-like disease due to GJC2 mutation";0
"Pelizaeus-Merzbacher-like disease due to HSPD1 mutation";0
"Pelizaeus-Merzbacher-like disease due to AIMP1 mutation";0
"Autoimmune pancreatitis type 1";9
"Autoimmune pancreatitis type 2";0
"Distal monosomy 12p";0
"Autosomal recessive limb-girdle muscular dystrophy type 2P";0
"Rare systemic or rheumatological disease of childhood";0
"PLIN1-related familial partial lipodystrophy";0
"Autosomal semi-dominant severe lipodystrophic laminopathy";0
"Rare pediatric vasculitis";0
"Rare pediatric systemic disease";0
"Erythropoietic uroporphyria associated with myeloid malignancy";0
"Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome";0
"Familial Alzheimer-like prion disease";0
"W syndrome";49
"Inherited prion disease";64
"Familial omphalocele syndrome with facial dysmorphism";0
"Familial steroid-resistant nephrotic syndrome with sensorineural deafness";0
"Partial pancreatic agenesis";2
"Fatal infantile hypertonic myofibrillar myopathy";0
"Warsaw breakage syndrome";17
"Rapidly progressive glomerulonephritis";869
"Nestor-Guillermo progeria syndrome";6
"Chondrodysplasia with joint dislocations, gPAPP type";0
"Hereditary sensorimotor neuropathy with hyperelastic skin";0
"Subacute sclerosing leukoencephalitis";5
"Hemoglobinopathy Toms River";0
"Progressive myoclonic epilepsy type 6";0
"Familial progressive hyper- and hypopigmentation";0
"Multiple congenital anomalies-hypotonia-seizures syndrome";9
"Occipital pachygyria and polymicrogyria";0
"Acrodysostosis with multiple hormone resistance";0
"Autosomal recessive nail dysplasia";4
"Hermansky-Pudlak syndrome type 9";0
"Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect";0
"Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome";0
"Papilloma of choroid plexus";1
"Severe intellectual disability and progressive spastic paraplegia";0
"Generalized essential telangiectasia";25
"Cutaneous collagenous vasculopathy";14
"Bullous diffuse cutaneous mastocytosis";0
"Pseudoxanthomatous diffuse cutaneous mastocytosis";0
"Laryngeal abductor paralysis";8
"Intralobar congenital pulmonary sequestration";0
"Extralobar congenital pulmonary sequestration";0
"Communicating congenital bronchopulmonary-foregut malformation";0
"Congenital pulmonary airway malformation type 0";0
"Congenital pulmonary airway malformation type 1";0
"Congenital pulmonary airway malformation type 2";0
"Congenital pulmonary airway malformation type 3";0
"Congenital pulmonary airway malformation type 4";0
"Anterior uveitis";2715
"Posterior uveitis";1015
"Panuveitis";913
"Familial recurrent peripheral facial palsy";1
"Idiopathic anterior uveitis";34
"Idiopathic posterior uveitis";10
"Idiopathic panuveitis";16
"Systemic diseases with anterior uveitis";0
"Systemic diseases with posterior uveitis";0
"Systemic diseases with panuveitis";0
"Monosomy 5p";20
"Inherited non-syndromic ichthyosis";0
"Inherited ichthyosis syndromic form";0
"Syndromic X-linked ichthyosis";0
"Autosomal recessive congenital ichthyosis";95
"Keratinopathic ichthyosis";7
"Self-healing collodion baby";10
"Acral self-healing collodion baby";3
"Annular epidermolytic ichthyosis";6
"Congenital reticular ichthyosiform erythroderma";11
"Parana hard-skin syndrome";1
"Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome";0
"X-linked ichthyosis syndrome";0
"Autosomal ichthyosis syndrome";0
"Autosomal ichthyosis syndrome with prominent hair abnormalities";0
"Autosomal ichthyosis syndrome with prominent neurologics signs";0
"Autosomal ichthyosis syndrome with fatal disease course";0
"Autosomal ichthyosis syndrome with other associated signs";0
"Spastic paraparesis-deafness syndrome";0
"Spastic paraplegia-epilepsy-intellectual disability syndrome";0
"Spastic paraplegia-glaucoma-intellectual disability syndrome";0
"Spastic paraplegia-facial-cutaneous lesions syndrome";0
"Frontotemporal dementia";4121
"Spastic paraplegia-nephritis-deafness syndrome";0
"Spastic paraplegia-neuropathy-poikiloderma syndrome";0
"Partial deletion of chromosome 12";0
"Inherited Creutzfeldt-Jakob disease";5
"Autoimmune polyendocrinopathy";351
"Autosomal recessive spastic paraplegia type 11";0
"Paraplegia-brachydactyly-cone-shaped epiphysis syndrome";0
"Paraplegia-intellectual disability-hyperkeratosis syndrome";0
"PARC syndrome";1
"Spastic paraplegia-precocious puberty syndrome";0
"Young-onset Parkinson disease";9
"Partington-Anderson syndrome";0
"Demodicidosis";53
"Rhizomelic dysplasia, Patterson-Lowry type";0
"Short tarsus-absence of lower eyelashes syndrome";0
"Stiff skin syndrome";32
"Wrinkly skin syndrome";21
"Pectus excavatum-macrocephaly-dysplastic nails syndrome";0
"PEHO syndrome";30
"Pellagra-like skin rash-neurological manifestations syndrome";0
"Tyrosinemia type 2";1
"Renal caliceal diverticuli-deafness syndrome";0
"Pelvis-shoulder dysplasia";3
"Alveolar echinococcosis";722
"Pelvic dysplasia-arthrogryposis of lower limbs syndrome";0
"Familial benign chronic pemphigus";43
"Response to antiviral treatment in hepatitis C";0
"Susceptibility to adverse reaction due to mercaptopurine";0
"Toxicity or absent response to clozapine";0
"Larsen-like syndrome, B3GAT3 type";0
"Craniosynostosis and dental anomalies";0
"8q21.11 microdeletion syndrome";1
"Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion";0
"Xp22.13p22.2 duplication syndrome";0
"Penoscrotal transposition";75
"TEMPI syndrome";3
"Autosomal dominant Charcot-Marie-Tooth disease type 2O";0
"Familial retinal arterial macroaneurysm";0
"IgG4-related disease";806
"Autosomal recessive cerebellar ataxia-psychomotor retardation syndrome";0
"Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency";0
"Adult-onset autosomal recessive cerebellar ataxia";0
"Pentosuria";11
"Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia";0
"Infantile-onset autosomal recessive nonprogressive cerebellar ataxia";0
"Pontocerebellar hypoplasia type 7";0
"Pleuropulmonary blastoma familial tumor susceptibility syndrome";0
"Fetal lung interstitial tumor";6
"Familial intrahepatic cholestasis";369
"Reversible cerebral vasoconstriction syndrome";225
"Well-differentiated fetal adenocarcinoma of the lung";13
"Small cell carcinoma of the bladder";82
"Glycerol kinase deficiency, infantile form";0
"Glycerol kinase deficiency, juvenile form";0
"Glycerol kinase deficiency, adult form";0
"Phosphoserine aminotransferase deficiency";3
"Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency";0
"Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency";0
"CLIPPERS";84
"Acute zonal occult outer retinopathy";80
"Acute annular outer retinopathy";8
"Congenital pericardium anomaly";0
"Pericardial and diaphragmatic defect";0
"Qualitative or quantitative defects of troponin";0
"Qualitative or quantitative defects of tropomyosin";0
"Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome";14
"Ocular albinism";320
"Syndromic oculocutaneous albinism";0
"Disorder of phenylalanine metabolism";6
"Disorder of tyrosine metabolism";22
"Perlman syndrome";32
"Marfan syndrome type 1";2
"Marfan syndrome type 2";8
"Neonatal Marfan syndrome";56
"Aneurysm-osteoarthritis syndrome";5
"Marfan and Marfan-related disorder";0
"Ehlers-Danlos syndrome, hypermobility type";22
"Alopecia-intellectual disability syndrome";0
"Rare disease with thoracic aortic aneurysm and aortic dissection";0
"Serpentine fibula-polycystic kidneys syndrome";0
"Fuhrmann syndrome";13
"Perrault syndrome";30
"Persistent Müllerian duct syndrome";173
"Disorder of folate metabolism and transport";0
"Ehlers-Danlos syndrome, vascular type";3
"Short stature-wormian bones-dextrocardia syndrome";0
"Short stature-webbed neck-heart disease syndrome";0
"Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome";0
"Short stature, Brussels type";0
"Short stature-valvular heart disease-characteristic facies syndrome";0
"Peutz-Jeghers syndrome";1204
"Ehlers-Danlos syndrome, classic type";0
"Pfeiffer-Palm-Teller syndrome";0
"Cardiocranial syndrome, Pfeiffer type";0
"Phakomatosis pigmentokeratotica";4
"Phakomatosis pigmentovascularis";41
"PHAVER syndrome";2
"Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome";0
"Phocomelia, Schinzel type";0
"Hereditary elliptocytosis";402
"Phosphoenolpyruvate carboxykinase deficiency";6
"Cutaneous photosensitivity-lethal colitis syndrome";0
"Sitosterolemia";171
"Piebaldism";197
"Piebald trait-neurologic defects syndrome";0
"TARP syndrome";10
"Pierre Robin syndrome-faciodigital anomaly syndrome";0
"Pili torti";109
"Ellis Van Creveld syndrome";237
"Pili torti-onychodysplasia syndrome";0
"Disorders of vitamin D metabolism";0
"Pili torti-developmental delay-neurological abnormalities syndrome";0
"Hypocalcemic rickets";8
"Hypocalcemic vitamin D-dependent rickets";0
"Autosomal recessive hypophosphatemic rickets";27
"Pilodental dysplasia-refractive errors syndrome";0
"Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation";0
"Hypermethioninemia encephalopathy due to adenosine kinase deficiency";0
"Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency";0
"Tropical spastic paraparesis";1748
"Infective dermatitis associated with HTLV-1";13
"Primary non-gestational choriocarcinoma of ovary";0
"Non-central nervous system-localized embryonal carcinoma";0
"Familial vesicoureteral reflux";28
"Early-onset myopathy with fatal cardiomyopathy";1
"Myosclerosis";9
"Malignancy diagnosed during pregnancy";0
"Pilotto syndrome";0
"Isolated congenital adermatoglyphia";0
"Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome";0
"Intellectual disability-alacrima-achalasia syndrome";0
"Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism";0
"Congenital cataract microcornea with corneal opacity";0
"Pinsky-Di George-Harley syndrome";0
"Combined malonic and methylmalonic acidemia";0
"12q15q21.1 microdeletion syndrome";0
"Microtriplication 11q24.1";0
"Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency";0
"BAP1-related tumor predisposition syndrome";0
"Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency";0
"Dysmorphism-conductive hearing loss-heart defect syndrome";0
"Mitochondrial membrane protein-associated neurodegeneration";12
"Fatal multiple mitochondrial dysfunctions syndrome";0
"Exfoliative ichthyosis";9
"Juvenile nasopharyngeal angiofibroma";348
"Pitt-Hopkins syndrome";54
"Hereditary arterial and articular multiple calcification syndrome";0
"Rare virus associated tumor";0
"Epstein-Barr Virus-related tumor";0
"Epstein-Barr virus-associated malignant lymphoproliferative disorder";0
"Epstein-Barr Virus-associated carcinoma";2
"Epstein-Barr Virus-associated mesenchymal tumor";0
"Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly";18
"Plasmablastic lymphoma";283
"Lymphoepithelial-like carcinoma";18
"Myopericytoma";81
"Pityriasis rubra pilaris";259
"X-linked intellectual disability-plagiocephaly syndrome";0
"Disorder of tryptophan metabolism";2
"Disorder of lysine and hydroxylysine metabolism";0
"Disorder of glutamine metabolism";0
"Glutathione synthetase deficiency with 5-oxoprolinuria";0
"Glutathione synthetase deficiency without 5-oxoprolinuria";0
"Neonatal glycine encephalopathy";3
"Infantile glycine encephalopathy";0
"Atypical glycine encephalopathy";0
"Disorder of proline metabolism";0
"Disorder of ornithine metabolism";0
"Transient hyperammonemia of the newborn";0
"Hypermethioninemia due to glycine N-methyltransferase deficiency";0
"Organic aciduria";179
"Brachyolmia-amelogenesis imperfecta syndrome";0
"3-methylglutaconic aciduria";120
"Vitamin B12-unresponsive methylmalonic acidemia type mut0";0
"Mevalonic aciduria";70
"Congenital rubella syndrome";791
"Leri pleonosteosis";1
"Neuralgic amyotrophy";246
"Idiopathic chronic eosinophilic pneumonia";26
"Familial spontaneous pneumothorax";25
"POEMS syndrome";666
"Hereditary acrokeratotic poikiloderma, Weary type";0
"Hereditary pheochromocytoma-paraganglioma";12
"Multiple myeloma";26941
"Kindler syndrome";119
"Systemic disease with skin involvement";0
"Autoinflammatory syndrome with immune deficiency";0
"Autoinflammatory syndrome with skin involvement";0
"Rare head and neck tumor";0
"Rothmund-Thomson syndrome";344
"Congenital varicella syndrome";92
"Poland syndrome";365
"Poliomyelitis";5300
"Polydactyly";2111
"Postaxial polydactyly-dental and vertebral anomalies syndrome";0
"Polydactyly-myopia syndrome";0
"Orofaciodigital syndrome type 5";0
"Congenital enterovirus infection";2
"Oliver syndrome";106
"Reactive arthritis";2680
"Preaxial polydactyly-colobomata-intellectual disability syndrome";0
"Isolated polycystic liver disease";23
"Polymicrogyria-turricephaly-hypogenitalism syndrome";0
"Polyneuropathy-hand defect syndrome";0
"Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome";0
"Juvenile polyposis syndrome";149
"Congenital herpes simplex virus infection";6
"Cronkhite-Canada syndrome";124
"Familial clubfoot due to 5q31 microdeletion";0
"Familial clubfoot due to PITX1 point mutation";0
"Skin fragility-woolly hair-palmoplantar keratoderma syndrome";0
"Infantile-onset ascending hereditary spastic paralysis";8
"Acute generalized exanthematous pustulosis";296
"Malignant migrating partial seizures of infancy";0
"Pleomorphic rhabdomyosarcoma";143
"Chronic inflammatory demyelinating polyneuropathy";1054
"Epithelioid sarcoma";576
"Celiac trunk compression syndrome";6
"Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria";0
"Methylmalonic acidemia without homocystinuria";0
"Grayson-Wilbrandt corneal dystrophy";0
"Epithelial recurrent erosion dystrophy";16
"Polysyndactyly-cardiac malformation syndrome";0
"Pre-Descemet corneal dystrophy";4
"Crossed polysyndactyly";2
"Congenital hereditary endothelial dystrophy type II";0
"X-linked endothelial corneal dystrophy";0
"PYCR1-related De Barsy syndrome";0
"Blepharophimosis-intellectual disability syndrome";0
"Blepharophimosis-intellectual disability syndrome, MKB type";0
"Blepharophimosis-intellectual disability syndrome, Verloes type";0
"Ketamine-induced biliary dilatation";0
"Fixed pigmented erythema";8
"Toxic dermatosis";0
"MITF-related melanoma and renal cell carcinoma predisposition syndrome";0
"Congenital dyserythropoietic anemia type IV";4
"Constitutional dyserythropoietic anemia";0
"Fatal infantile encephalopathy-pulmonary hypertension syndrome";0
"3MC syndrome";9
"Frontotemporal dementia, right temporal atrophy variant";0
"Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome";0
"Familial isolated arrhythmogenic ventricular dysplasia, left dominant form";0
"Familial isolated arrhythmogenic ventricular dysplasia, biventricular form";0
"Familial isolated arrhythmogenic ventricular dysplasia, right dominant form";0
"Lethal occipital encephalocele-skeletal dysplasia syndrome";0
"EDICT syndrome";4
"Distal Xq28 microduplication syndrome";0
"1p21.3 microdeletion syndrome";0
"Childhood encephalopathy due to thiamine pyrophosphokinase deficiency";0
"Hypertelorism-preauricular sinus-punctual pits-deafness syndrome";0
"Hypoinsulinemic hypoglycemia and body hemihypertrophy";0
"Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome";0
"Deficiency in anterior pituitary function-variable immunodeficiency syndrome";0
"Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome";0
"Fetal cytomegalovirus syndrome";0
"Porencephaly";348
"Microcephaly-capillary malformation syndrome";6
"Neonatal inflammatory skin and bowel disease";0
"2q31.1 microduplication syndrome";0
"Reunion Island Larsen syndrome";0
"Rare nevus";0
"Multiple pterygium syndrome";111
"Porencephaly-cerebellar hypoplasia-internal malformations syndrome";0
"Postpoliomyelitis syndrome";568
"Renal-hepatic-pancreatic dysplasia";19
"Chronic intestinal failure";90
"Brachydactyly-long thumb syndrome";0
"Triphalangeal thumbs-brachyectrodactyly syndrome";0
"Amelia";322
"Intercalary limb defects";0
"Terminal limb defects";9
"Adactyly of hand";0
"Split hand or/and split foot malformation";0
"Brachydactyly";833
"Preaxial polydactyly of fingers";0
"Postaxial polydactyly of fingers";3
"Congenital deformities of limbs";0
"Congenital deformities of fingers";0
"Joint formation defects";0
"Congenital joint dislocations";10
"Limb overgrowth";29
"Syndrome with limb reduction defects";0
"Dysostosis with combined reduction defects of upper and lower limbs";0
"Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy";0
"Popliteal pterygium syndrome";83
"Lethal congenital contracture syndrome";15
"Amelia of upper limb";1
"Amelia of lower limb";0
"Tetra-amelia";17
"Humeral agenesis/hypoplasia";0
"Congenital absence of upper arm and forearm with hand present";0
"Congenital absence of thigh and lower leg with foot present";0
"Congenital absence of both forearm and hand";0
"Congenital absence of both lower leg and foot";0
"Acheiria";5
"Apodia";1
"Congenital absence/hypoplasia of thumb";0
"Congenital absence/hypoplasia of fingers excluding thumb";0
"Split hand";269
"Split foot";120
"Brachydactyly of fingers";0
"Brachydactyly of toes";1
"Fetal parvovirus syndrome";0
"Triphalangeal thumb-polysyndactyly syndrome";12
"Constriction rings syndrome";0
"Hyperphalangy";12
"Central polydactyly of fingers";0
"Preaxial polydactyly of toes";0
"Postaxial polydactyly of toes";0
"Central polydactyly of toes";0
"Syndactyly type 6";0
"Familial isolated clinodactyly of fingers";0
"Camptodactyly of fingers";0
"Congenital pseudoarthrosis of the tibia";0
"Congenital pseudoarthrosis of the femur";0
"Congenital pseudoarthrosis of the fibula";0
"Congenital pseudoarthrosis of the radius";0
"Congenital pseudoarthrosis of the ulna";0
"Tibio-fibular synostosis";3
"Congenital shoulder dislocation";1
"Congenital elbow dislocation";1
"Congenital knee dislocation";14
"Congenital patella dislocation";0
"Patella aplasia/hypoplasia, unilateral";0
"Patella aplasia/hypoplasia, bilateral";0
"Macrodactyly of fingers";0
"Macrodactyly of toes";0
"Upper limb hypertrophy";2
"Lower limb hypertrophy";7
"Amelia of upper limb, unilateral";0
"Amelia of upper limb, bilateral";0
"Amelia of lower limb, unilateral";0
"Amelia of lower limb, bilateral";0
"Humeral agenesis/hypoplasia, unilateral";0
"Humeral agenesis/hypoplasia, bilateral";0
"Femoral agenesis/hypoplasia, unilateral";0
"Femoral agenesis/hypoplasia, bilateral";0
"Radial hemimelia, unilateral";0
"Radial hemimelia, bilateral";0
"Ulnar hemimelia, bilateral";0
"Ulnar hemimelia, unilateral";0
"Tibial hemimelia, unilateral";0
"Tibial hemimelia, bilateral";0
"Fibular hemimelia, unilateral";0
"Fibular hemimelia, bilateral";0
"Congenital absence of upper arm and forearm with hand present, unilateral";0
"Congenital absence of upper arm and forearm with hand present, bilateral";0
"Congenital absence of thigh and lower leg with foot present, unilateral";0
"Congenital absence of thigh and lower leg with foot present, bilateral";0
"Congenital absence of both forearm and hand, unilateral";0
"Congenital absence of both forearm and hand, bilateral";0
"Congenital absence of both lower leg and foot, unilateral";0
"Congenital absence of both lower leg and foot, bilateral";0
"Absent thumb-short stature-immunodeficiency syndrome";0
"Acheiria, unilateral";0
"Acheiria, bilateral";0
"Apodia, unilateral";0
"Apodia, bilateral";0
"Congenital absence/hypoplasia of thumb, unilateral";0
"Congenital absence/hypoplasia of thumb, bilateral";0
"Congenital absence/hypoplasia of fingers excluding thumb, bilateral";0
"Adactyly of foot, unilateral";0
"Adactyly of foot, bilateral";0
"Split hand, unilateral";0
"Split hand, bilateral";0
"Split foot, unilateral";0
"Split foot, bilateral";0
"Brachydactyly of fingers, unilateral";0
"Brachydactyly of fingers, bilateral";0
"Brachydactyly of toes, unilateral";0
"Brachydactyly of toes, bilateral";0
"Symbrachydactyly of hand and foot, unilateral";0
"Symbrachydactyly of hand and foot, bilateral";0
"Hyperphalangy, unilateral";0
"Hyperphalangy, bilateral";0
"Polydactyly of a biphalangeal thumb, unilateral";0
"Polydactyly of a biphalangeal thumb, bilateral";0
"Polydactyly of a triphalangeal thumb, unilateral";0
"Polydactyly of a triphalangeal thumb, bilateral";0
"Polydactyly of an index finger, unilateral";0
"Polydactyly of an index finger, bilateral";0
"Polysyndactyly, unilateral";0
"Polysyndactyly, bilateral";0
"Postaxial polydactyly type A, unilateral";0
"Postaxial polydactyly type A, bilateral";0
"Postaxial polydactyly type B, unilateral";0
"Postaxial polydactyly type B, bilateral";0
"Central polydactyly of fingers, unilateral";0
"Central polydactyly of fingers, bilateral";0
"Preaxial polydactyly of toes, unilateral";0
"Preaxial polydactyly of toes, bilateral";0
"Postaxial polydactyly of toes, unilateral";0
"Postaxial polydactyly of toes, bilateral";0
"Central polydactyly of toes, unilateral";0
"Central polydactyly of toes, bilateral";0
"Zygodactyly type 1";0
"Zygodactyly type 2";0
"Zygodactyly type 3";0
"Zygodactyly type 4";0
"Synpolydactyly type 1";0
"Synpolydactyly type 2";0
"Synpolydactyly type 3";0
"Adducted thumbs-arthrogryposis syndrome, Christian type";0
"Congenital vertical talus, unilateral";0
"Congenital vertical talus, bilateral";0
"Humero-radio-ulnar synostosis, unilateral";0
"Humero-radio-ulnar synostosis, bilateral";0
"Humero-radial synostosis, unilateral";0
"Humero-radial synostosis, bilateral";0
"Humero-ulnar synostosis, unilateral";0
"Humero-ulnar synostosis, bilateral";0
"Radio-ulnar synostosis, unilateral";0
"Radio-ulnar synostosis, bilateral";0
"Madelung deformity, unilateral";0
"Madelung deformity, bilateral";0
"Congenital elbow dislocation, unilateral";0
"Congenital elbow dislocation, bilateral";0
"Congenital genu recurvatum";5
"Congenital genu flexum";0
"Congenital patella dislocation, unilateral";0
"Congenital patella dislocation, bilateral";0
"Macrodactyly of fingers, unilateral";0
"Macrodactyly of fingers, bilateral";0
"Macrodactyly of toes, unilateral";0
"Macrodactyly of toes, bilateral";0
"Ehlers-Danlos syndrome, musculocontractural type";0
"Prata-Liberal-Goncalves syndrome";0
"Guttmacher syndrome";2
"X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome";0
"Progeria-short stature-pigmented nevi syndrome";0
"Enchondromatosis";351
"De Barsy syndrome";18
"Progeroid syndrome, Petty type";0
"Autosomal dominant prognathism";0
"Prolactinoma";2428
"Properdin deficiency";48
"Transcobalamin I deficiency";2
"Leukocyte adhesion deficiency";392
"Proteus-like syndrome";11
"Tick-borne encephalitis";1715
"Prune belly syndrome";495
"Peroxisomal acyl-CoA oxidase deficiency";10
"Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome";0
"46,XX disorder of sex development-anorectal anomalies syndrome";0
"46,XX disorder of sex development-skeletal anomalies syndrome";0
"Pseudoleprechaunism syndrome, Patterson type";0
"Chronic intestinal pseudoobstruction";82
"Mitochondrial neurogastrointestinal encephalomyopathy";135
"Acrootoocular syndrome";0
"Pseudo-Zellweger syndrome";11
"46,XX disorder of sex development";0
"Spontaneous periodic hypothermia";14
"Disorder of sex development-intellectual disability syndrome";0
"Pseudoprogeria syndrome";0
"Disorder of thiamine metabolism and transport";0
"Antecubital pterygium syndrome";0
"Pterygium colli-intellectual disability-digital anomalies syndrome";0
"Familial pterygium of the conjunctiva";0
"Autosomal recessive multiple pterygium syndrome";2
"Short stature-craniofacial anomalies-genital hypoplasia syndrome";0
"Baraitser-Winter cerebrofrontofacial syndrome";4
"Ptosis-vocal cord paralysis syndrome";0
"Carnevale syndrome";7
"Ptosis-strabismus-ectopic pupils syndrome";0
"Hereditary orotic aciduria";27
"Bifunctional enzyme deficiency";13
"Familial male-limited precocious puberty";46
"Ehlers-Danlos syndrome, kyphoscoliotic and deafness type";0
"Immune thrombocytopenic purpura";1374
"Connective tissue disorder due to lysyl hydroxylase-3 deficiency";0
"Transient infantile hypertriglyceridemia and hepatosteatosis";0
"Severe congenital hypochromic anemia with ringed sideroblasts";0
"Pyknoachondrogenesis";1
"11p15.4 microduplication syndrome";0
"Congenital cataract-hearing loss-severe developmental delay syndrome";0
"Charcot-Marie-Tooth disease type 2P";0
"Persistent polyclonal B-cell lymphocytosis";44
"Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome";0
"Autosomal systemic lupus erythematosus";0
"PLCG2-associated antibody deficiency and immune dysregulation";0
"Familial infantile gigantism";0
"Progeroid and marfanoid aspect-lipodystrophy syndrome";0
"Pituitary carcinoma";165
"Mirror polydactyly-vertebral segmentation-limbs defects syndrome";0
"Sagliker syndrome";16
"Multiple congenital anomalies-hypotonia-seizures syndrome type 2";0
"Pyle disease";19
"Painful orbital and systemic neurofibromas-marfanoid habitus syndrome";0
"Onychocytic matricoma";9
"Onychomatricoma";47
"Rare nail tumor";0
"Pseudohypoaldosteronism type 2D";0
"Pseudohypoaldosteronism type 2E";0
"DDOST-CDG";0
"Autosomal recessive infantile hypercalcemia";0
"Follicular cholangitis and pancreatitis";0
"Carcinoma of the ampulla of Vater";204
"Combined pulmonary fibrosis-emphysema syndrome";0
"Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation";0
"Polymicrogyria due to TUBB2B mutation";0
"Oligodontia-cancer predisposition syndrome";0
"Staphylococcal toxemia";3
"Pyridoxine-dependent epilepsy";91
"Juvenile amyotrophic lateral sclerosis";57
"Familial dilated cardiomyopathy with conduction defect due to LMNA mutation";0
"Laminopathy with striated muscle involvement";0
"Laminopathy with peripheral neuropathy";0
"Laminopathy with lipodystrophy";0
"Laminopathy with premature aging";0
"Pyruvate carboxylase deficiency";103
"Indolent B-cell non-Hodgkin lymphoma";47
"Aggressive B-cell non-Hodgkin lymphoma";53
"Diffuse large B-cell lymphoma of the central nervous system";0
"T-cell/histiocyte rich large B cell lymphoma";52
"Primary cutaneous anaplastic large cell lymphoma";163
"Splenic diffuse red pulp small B-cell lymphoma";14
"Hairy cell leukemia variant";52
"Diffuse large B-cell lymphoma with chronic inflammation";0
"ALK-positive anaplastic large cell lymphoma";120
"ALK-negative anaplastic large cell lymphoma";66
"Marginal zone lymphoma";1152
"Ependymal tumor";10
"Qazi-Markouizos syndrome";0
"Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome";0
"Radiculomegaly of canine teeth- congenital cataract";0
"Radio-renal syndrome";0
"Absent radius-anogenital anomalies syndrome";0
"Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome";0
"Ramon syndrome";7
"Epidermodysplasia verruciformis";507
"Ramsay Hunt syndrome";290
"RAPADILINO syndrome";16
"Rapp-Hodgkin syndrome";45
"External auditory canal atresia-vertical talus-hypertelorism syndrome";0
"Radial ray hypoplasia-choanal atresia syndrome";0
"Caudal regression sequence";9
"Dystrophic epidermolysis bullosa";759
"NPHP3-related Meckel-like syndrome";0
"Renal tubular dysgenesis";77
"Delayed membranous cranial ossification";2
"Growth delay-hydrocephaly-lung hypoplasia syndrome";0
"Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome";0
"Biliary atresia";3100
"Epidermolysis bullosa simplex";446
"Pituitary tumor";2258
"Intellectual disability-balding-patella luxation-acromicria syndrome";0
"Intellectual disability-cataracts-calcified pinnae-myopathy syndrome";0
"Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome";0
"Blepharophimosis-intellectual disability syndrome, SBBYS type";0
"Junctional epidermolysis bullosa";413
"Intellectual disability-hypotonia-skin hyperpigmentation syndrome";0
"Intellectual disability-sparse hair-brachydactyly syndrome";0
"X-linked intellectual disability-seizures-psoriasis syndrome";0
"X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome";0
"X-linked intellectual disability, Brooks type";0
"Monoamine oxidase A deficiency";3
"X-linked intellectual disability, Gu type";0
"Benign familial infantile epilepsy";18
"X-linked intellectual disability, Schutz type";0
"X-linked intellectual disability, Snyder type";0
"Acquired adult-onset immunodeficiency";0
"Congenital sucrase-isomaltase deficiency with starch intolerance";0
"Congenital sucrase-isomaltase deficiency with minimal starch tolerance";0
"Congenital sucrase-isomaltase deficiency without starch intolerance";0
"Congenital sucrase-isomaltase deficiency with starch and lactose intolerance";0
"Congenital sucrase-isomaltase deficiency without sucrose intolerance";0
"PTEN hamartoma tumor syndrome";69
"X-linked intellectual disability-monoamine oxidase A metabolism anomaly syndrome";0
"Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome";0
"LAMB2-related infantile-onset nephrotic syndrome";0
"Autosomal recessive spastic paraplegia type 48";0
"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis";0
"Familial primary hypomagnesemia with hypocalcuria";0
"Familial primary hypomagnesemia with normocalcuria";0
"Isolated hereditary congenital facial paralysis";0
"Congenital hereditary facial paralysis-variable hearing loss syndrome";0
"Hereditary acrokeratotic poikiloderma of Kindler-Weary";0
"Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome";0
"Porencephaly-microcephaly-bilateral congenital cataract syndrome";0
"FADD-related immunodeficiency";0
"Myospherulosis";51
"Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome";0
"Sodium channelopathy-related small fiber neuropathy";0
"Autosomal dominant Opitz G/BBB syndrome";2
"X-linked Opitz G/BBB syndrome";14
"X-linked complicated spastic paraplegia type 1";0
"Rare tumor of gallbladder and extrahepatic biliary tract";0
"Rare tumor of liver and intrahepatic biliary tract";0
"Rare intoxication due to medical products";0
"Complication after organ transplantation";0
"Non-infectious anterior uveitis";1
"Familial normophosphatemic tumoral calcinosis";0
"Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome";0
"Rare parkinsonian syndrome due to neurodegenerative disease";0
"Hemiparkinsonism-hemiatrophy syndrome";11
"Kufor-Rakeb syndrome";52
"Rare parkinsonian syndrome due to intoxication";0
"Manganese poisoning";371
"Carbon monoxide-induced parkinsonism";2
"Cyanide-induced parkinsonism";3
"Miscellaneous movement disorder due to neurodegenerative disease";0
"Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome";0
"Frontotemporal neurodegeneration with movement disorder";0
"Rare tremor disorder";0
"Rare choreic movement disorder";0
"Neurodegenerative disease with chorea";0
"Postinfectious autoimmune disease with chorea";0
"Sydenham chorea";83
"Primary dystonia, DYT21 type";0
"Hemidystonia-hemiatrophy syndrome";0
"Rare myoclonus";0
"Primary myoclonus";0
"Rare disease with myoclonus as a major feature";0
"Epilepsy and/or ataxia with myoclonus as major feature";0
"Non progressive epilepsy and/or ataxia with myoclonus as a major feature";0
"Progressive epilepsy and/or ataxia with myoclonus as a major feature";0
"Motor stereotypies";63
"Rare paroxysmal movement disorder";3
"Hyperekplexia";259
"Sporadic hyperekplexia";11
"Intellectual disability-myopathy-short stature-endocrine defect syndrome";0
"Juvenile myoclonic epilepsy";911
"Rare genetic parkinsonian disorder";0
"Rare parkinsonian syndrome due to genetic neurodegenerative disease";0
"Miscellaneous movement disorder due to genetic neurodegenerative disease";0
"Rare genetic tremor disorder";0
"Rare genetic myoclonus";0
"Rare genetic disease with myoclonus as a major feature";0
"Costello syndrome";284
"Diffuse palmoplantar keratoderma";33
"Isolated diffuse palmoplantar keratoderma";0
"Intellectual disability-short stature-hypertelorism syndrome";0
"X-linked intellectual disability-psychosis-macroorchidism syndrome";0
"Disease with diffuse palmoplantar keratoderma as a major feature";0
"Curly hair-acral keratoderma-caries syndrome";0
"Autosomal dominant diffuse mutilating palmoplantar keratoderma";0
"Severe X-linked intellectual disability, Gustavson type";0
"Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature";0
"Focal palmoplantar keratoderma";22
"Isolated focal palmoplantar keratoderma";0
"Disease with focal palmoplantar keratoderma as a major feature";0
"Intellectual disability, Buenos-Aires type";0
"Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome";0
"Punctate palmoplantar keratoderma";26
"Marginal papular palmoplantar keratoderma";0
"Unverricht-Lundborg disease";131
"Intellectual disability, Wolff type";0
"Focal acral hyperkeratosis";16
"Disease with punctate palmoplantar keratoderma as a major feature";0
"Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature";0
"Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature";0
"Erythrokeratoderma variabilis progressiva";0
"Intellectual disability-polydactyly-uncombable hair syndrome";0
"Methylcobalamin deficiency type cblDv1";0
"Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A";0
"Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B";0
"Mirhosseini-Holmes-Walton syndrome";2
"Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C";0
"Disorder of beta and omega amino acid metabolism";0
"Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency";0
"Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency";0
"Vitamin B12-responsive methylmalonic acidemia, type cblDv2";0
"Aminoacylase deficiency";0
"Disorder of neutral amino acid transport";0
"Disorder of glycolysis";0
"Disorder of fructose metabolism";2
"Disorder of galactose metabolism";25
"Erythrocyte galactose epimerase deficiency";0
"Generalized galactose epimerase deficiency";0
"Retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome";0
"Glycogen storage disease due to glycogen synthase deficiency";0
"Glycogen storage disease due to acid maltase deficiency, infantile onset";0
"Autosomal dominant vitreoretinochoroidopathy";21
"Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form";0
"Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form";0
"Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form";0
"Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form";0
"Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form";0
"Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form";0
"Retinohepatoendocrinologic syndrome";0
"Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form";0
"Revesz syndrome";13
"Glycerol kinase deficiency";106
"Disorder of glyoxylate metabolism";0
"Familial partial epilepsy";19
"Congenital pulmonary venous return anomaly";0
"Disorder of carbohydrate absorption and transport";0
"Disorder of lipid metabolism";119
"Familial lipoprotein lipase deficiency";37
"Familial apolipoprotein C-II deficiency";5
"Mevalonate kinase deficiency";191
"Disorder of lipid absorption and transport";0
"Pancreatic triacylglycerol lipase deficiency";0
"Congenital systemic veins anomaly";0
"Pancreatic colipase deficiency";0
"Combined pancreatic lipase-colipase deficiency";0
"Disorder of fatty acid oxidation and ketogenesis";0
"Acyl-CoA dehydrogenase deficiency";503
"3-hydroxyacyl-CoA dehydrogenase deficiency";82
"Disorder of carnitine cycle and carnitine transport";0
"Metabolic disease due to other fatty acid oxidation disorder";0
"Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes";0
"Gangliosidosis";873
"Hyper-beta-alaninemia";2
"GM2 gangliosidosis";312
"Sandhoff disease, infantile form";0
"Sandhoff disease, juvenile form";0
"Sandhoff disease, adult form";0
"Tay-Sachs disease, B variant, infantile form";0
"Tay-Sachs disease, B variant, juvenile form";0
"Tay-Sachs disease, B variant, adult form";0
"Fixed subaortic stenosis";49
"Tay-Sachs disease, B1 variant";0
"Primary hypomagnesemia with secondary hypocalcemia";0
"GM2 gangliosidosis, AB variant";1
"Hereditary central diabetes insipidus";5
"Atypical Gaucher disease due to saposin C deficiency";0
"Metachromatic leukodystrophy, late infantile form";0
"Metachromatic leukodystrophy, juvenile form";0
"Metachromatic leukodystrophy, adult form";0
"Glycoproteinosis";7
"Alpha-mannosidosis, infantile form";0
"Alpha-mannosidosis, adult form";0
"Sialidosis";218
"Mucopolysaccharidosis type 4A";0
"Congenital aortic valve stenosis";65
"Mucopolysaccharidosis type 4B";0
"Disorder of sialic acid metabolism";1
"Free sialic acid storage disease, infantile form";0
"Intermediate severe Salla disease";2
"Salla disease";91
"Lysosomal glycogen storage disease";32
"Disorder of lysosomal-related organelles";0
"Disorder of protein N-glycosylation";0
"Disorder of protein O-glycosylation";0
"Disorder of O-xylosylglycan synthesis";0
"Disorder of O-N-acetylgalactosaminylglycan synthesis";0
"Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis";0
"Disorder of O-mannosylglycan synthesis";0
"Atypical Rett syndrome";42
"Disorder of fucoglycosan synthesis";0
"Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation";0
"Disorder of multiple glycosylation";0
"Defect in conserved oligomeric Golgi complex";0
"Reye syndrome";774
"Meacham syndrome";3
"Defect in V-ATPase";0
"Rhizomelic chondrodysplasia punctata type 1";15
"Rhizomelic chondrodysplasia punctata type 2";8
"Rhizomelic syndrome, Urbach type";0
"Rhizomelic chondrodysplasia punctata type 3";3
"Disorder of peroxisomal alpha-, beta- and omega-oxidation";0
"Disorder of porphyrin and haem metabolism";0
"Disorder of bilirubin metabolism and excretion";0
"Disorder of pterin metabolism";0
"Disorder of metabolite absorption and transport";0
"Disorder of vitamin and non-protein cofactor absorption and transport†";0
"Disorder of catecholamine synthesis";0
"Disorder of other vitamins and cofactors metabolism and transport";0
"Disorder of mineral absorption and transport";0
"Disorder of copper metabolism";209
"Disorder of iron metabolism and transport";0
"Disorder of zinc metabolism";6
"Disorder of magnesium transport";0
"Disorder of manganese transport";0
"Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome";0
"Rheumatic fever";2965
"Oxoglutaricaciduria";0
"Reflex epilepsy";491
"Acquired immunodeficiency";44795
"Richieri Costa-da Silva syndrome";0
"Richieri Costa-Pereira syndrome";9
"Roberts syndrome";128
"Robin sequence-oligodactyly syndrome";0
"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement";0
"Robinow-like syndrome";0
"Robinow-Sorauf syndrome";1
"Autosomal dominant Robinow syndrome";6
"Mayer-Rokitansky-Küster-Hauser syndrome";315
"Rombo syndrome";7
"Rotor syndrome";35
"Dermatofibrosarcoma protuberans";1083
"Patella aplasia-coxa vara-tarsal synostosis syndrome";0
"Oral erosive lichen";31
"Roussy-Lévy syndrome";25
"Tangier disease";511
"Hypoalphalipoproteinemia";233
"Hypobetalipoproteinemia";257
"Rudiger syndrome";0
"Epidermolytic ichthyosis";41
"Melioidosis";1355
"Nocardiosis";817
"Rat-bite fever";82
"Ruvalcaba syndrome";99
"Brittle hair syndrome, Sabinas type";0
"Saccharopinuria";7
"Sarcosinemia";12
"Lamellar ichthyosis";461
"Satoyoshi syndrome";28
"Say-Barber-Miller syndrome";0
"Say-Field-Coldwell syndrome";0
"SCARF syndrome";2
"Familial Scheuermann disease";1
"Alpha-N-acetylgalactosaminidase deficiency";20
"Early-onset spastic ataxia-neuropathy syndrome";0
"20p13 microdeletion syndrome";0
"Jawad syndrome";3
"Ulnar-mammary syndrome";55
"Optic nerve edema-splenomegaly syndrome";0
"Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia";0
"Coats plus syndrome";9
"Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome";0
"Infantile cerebellar-retinal degeneration";0
"FGFR2-related bent bone dysplasia";0
"12p12.1 microdeletion syndrome";0
"Developmental and speech delay due to SOX5 deficiency";0
"Congenital pancreatic cyst";14
"Epstein-Barr virus-associated gastric carcinoma";75
"PENS syndrome";2
"2q23.1 microduplication syndrome";0
"Erythroderma desquamativum";1
"Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome";0
"Idiopathic linear interstitial keratitis";0
"Gastric adenocarcinoma and proximal polyposis of the stomach";9
"High bone mass osteogenesis imperfecta";0
"7p22.1 microduplication syndrome";2
"Marfanoid habitus-inguinal hernia-advanced bone age syndrome";0
"Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome";0
"Autoimmune polyendocrinopathy type 2";5
"Chronic diarrhea due to guanylate cyclase 2C overactivity";0
"Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency";0
"Hereditary sensory and autonomic neuropathy type 6";0
"Xq12-q13.3 duplication syndrome";0
"Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome";0
"Autosomal dominant aplasia and myelodysplasia";0
"Schneckenbecken dysplasia";12
"Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome";0
"Ameloblastoma";2063
"Ameloblastic carcinoma";130
"Rare odontologic tumor";0
"Spigelian hernia-cryptorchidism syndrome";0
"Meigs syndrome";203
"Pseudo-Meigs syndrome";80
"Atypical Meigs syndrome";0
"Ovarian fibroma";111
"Ovarian fibrothecoma";22
"Young adult-onset distal hereditary motor neuropathy";0
"Nephrogenic diabetes insipidus-intracranial calcification syndrome";0
"Craniofacial dysplasia-osteopenia syndrome";0
"Primary progressive apraxia of speech";10
"Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome";0
"Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome";0
"15q overgrowth syndrome";3
"Distal tetrasomy 15q";0
"Chudley-McCullough syndrome";12
"Autosomal recessive spastic ataxia with leukoencephalopathy";0
"Growing teratoma syndrome";89
"Duplication of the pituitary gland";0
"CLN11 disease";0
"Parkinsonism due to ATP13A2 deficiency";0
"Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency";0
"Non-progressive cerebellar ataxia with intellectual disability";0
"Variant ABeta2M amyloidosis";0
"Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion";0
"Segmental progressive overgrowth syndrome with fibroadipose hyperplasia";0
"TMEM165-CDG";5
"Cerebrofacioarticular syndrome";0
"Primary bone lymphoma";103
"Combined immunodeficiency due to STK4 deficiency";0
"Acquired porencephaly";1
"Primary systemic amyloidosis";296
"Primary localized amyloidosis";87
"Lethal arteriopathy syndrome due to fibulin-4 deficiency";0
"Atypical dentin dysplasia due to SMOC2 deficiency";0
"Rare disease with Cushing syndrome as a major feature";0
"Functioning pituitary adenoma";147
"Mixed functioning pituitary adenoma";0
"Somatomammotropinoma";0
"Familial isolated pituitary adenoma";40
"Silent pituitary adenoma";15
"Null pituitary adenoma";0
"SHOX-related short stature";2
"Malignant peripheral nerve sheath tumor";739
"Short stature due to partial GHR deficiency";0
"Short stature due to GHSR deficiency";0
"Primary renal tubular acidosis";2
"Autosomal dominant proximal renal tubular acidosis";0
"Severe Canavan disease";0
"Mild Canavan disease";3
"Normal pressure hydrocephalus";1815
"Mycobacterium xenopi infection";31
"Primary hypereosinophilic syndrome";3
"Secondary hypereosinophilic syndrome";0
"Lymphocytic hypereosinophilic syndrome";1
"X-linked non progressive cerebellar ataxia";0
"Cataract-congenital heart disease-neural tube defect syndrome";0
"Erythrokeratoderma "en cocardes"";3
"Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome";0
"Sclerosteosis";103
"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form";0
"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form";0
"Autoimmune disease with skin involvement";0
"Senior-Loken syndrome";73
"Septo-optic dysplasia spectrum";0
"Progressive symmetric erythrokeratodermia";8
"Congenital pulmonary sequestration";0
"Sézary syndrome";1659
"Spastic ataxia";194
"Autosomal dominant spastic ataxia";0
"Autosomal recessive spastic ataxia";101
"Partial deletion of the short arm of chromosome 12";0
"SHORT syndrome";29
"Omphalocele syndrome, Shprintzen-Goldberg type";0
"Eosinophilic fasciitis";395
"Sialuria";46
"Siegler-Brewer-Carey syndrome";0
"Sillence syndrome";1
"Sirenomelia";169
"Erythrokeratodermia variabilis";70
"Infantile convulsions and choreoathetosis";18
"Eyebrow duplication-syndactyly syndrome";0
"Infantile spasms-broad thumbs syndrome";0
"Hypersensitivity pneumonitis";1479
"T-B+ severe combined immunodeficiency";23
"T-B- severe combined immunodeficiency";23
"Severe combined immunodeficiency due to DNA-PKcs deficiency";0
"Combined immunodeficiency due to ORAI1 deficiency";0
"Combined immunodeficiency due to STIM1 deficiency";0
"Pancytopenia due to IKZF1 mutations";0
"X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia";0
"X-linked spasticity-intellectual disability-epilepsy syndrome";0
"Spina bifida-hypospadias syndrome";0
"Corneal-cerebellar syndrome";0
"Acute erythroid leukemia";48
"Spondylocamptodactyly syndrome";0
"Sprengel deformity";58
"Colchicine poisoning";54
"Methanol poisoning";247
"Ethylene glycol poisoning";192
"Paraquat poisoning";324
"Digitalis poisoning";57
"Pulmonary venoocclusive disease";32
"Steatocystoma multiplex-natal teeth syndrome";0
"Holoprosencephaly-radial heart renal anomalies syndrome";0
"Congenital pulmonary veins atresia or stenosis";0
"Congenital pulmonary valve stenosis";47
"Ewing sarcoma";5181
"Subpulmonary stenosis";75
"Subaortic stenosis-short stature syndrome";0
"Congenital myopathy with internal nuclei and atypical cores";0
"Distal 17p13.1 microdeletion syndrome";0
"Wiedemann-Steiner syndrome";11
"Familial cortical myoclonus";0
"Diencephalic-mesencephalic junction dysplasia";2
"Chondroectodermal dysplasia with night blindness";0
"Autosomal recessive spastic paraplegia type 53";0
"Supravalvular pulmonary stenosis";54
"Bilateral massive adrenal hemorrhage";6
"Lujo hemorrhagic fever";0
"Ebola hemorrhagic fever";1908
"Argentine hemorrhagic fever";90
"Bolivian hemorrhagic fever";16
"Venezuelan hemorrhagic fever";10
"Brazilian hemorrhagic fever";0
"Chapare hemorrhagic fever";0
"Hantavirus pulmonary syndrome";542
"Rift valley fever";681
"Kyasanur forest disease";57
"Omsk hemorrhagic fever";30
"Susceptibility/resistance to HIV infection";0
"Clear cell renal carcinoma";411
"Multilocular cystic clear cell renal cell neoplasm of low malignant potential";2
"Papillary renal cell carcinoma";629
"Supravalvular aortic stenosis";469
"Chromophobe renal cell carcinoma";372
"MiT family translocation renal cell carcinoma";0
"Renal cell carcinoma associated with neuroblastoma";0
"Renal medullary carcinoma";95
"Mucinous tubular and spindle cell renal carcinoma";0
"Tubulocystic renal cell carcinoma";18
"Inherited renal cancer-predisposing syndrome";0
"Autosomal recessive myogenic arthrogryposis multiplex congenita";0
"Carney complex-trismus-pseudocamptodactyly syndrome";0
"Stern-Lubinsky-Durrie syndrome";0
"Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations";0
"Inherited acute myeloid leukemia";0
"Acute myeloid leukemia with CEBPA somatic mutations";0
"Familial papillary or follicular thyroid carcinoma";0
"Familial nonmedullary thyroid carcinoma";24
"Sternal malformation-vascular dysplasia syndrome";0
"Combined oxidative phosphorylation defect type 8";0
"Combined oxidative phosphorylation defect type 9";0
"Combined oxidative phosphorylation defect type 13";0
"Combined oxidative phosphorylation defect type 14";0
"Combined oxidative phosphorylation defect type 15";0
"Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency";0
"Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency";0
"Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency";0
"Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency";0
"Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency";0
"Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency";0
"Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency";0
"Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency";0
"Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency";0
"Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency";0
"Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency";0
"Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency";0
"Steroid dehydrogenase deficiency-dental anomalies syndrome";0
"Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency";0
"X-linked mendelian susceptibility to mycobacterial diseases";0
"X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency";0
"X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency";0
"Amyloidosis cutis dyschromia";0
"Retinal macular dystrophy type 2";0
"PGM1-CDG";5
"Constitutional megaloblastic anemia with severe neurologic disease";0
"Primary lymphoma of the conjunctiva";0
"Microcephalic primordial dwarfism, Alazami type";0
"Microcephalic primordial dwarfism, Dauber type";0
"Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome";0
"Hereditary hyperekplexia";37
"Autoinflammatory syndrome of childhood";0
"Stiff person syndrome and related disorders";0
"Stimmler syndrome";0
"Glutathione synthetase deficiency";66
"Apparent mineralocorticoid excess";246
"Stoll-Alembik-Finck syndrome";0
"Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome";0
"Dehydrated hereditary stomatocytosis";28
"Overhydrated hereditary stomatocytosis";14
"Cleft lip/palate-ectodermal dysplasia syndrome";2
"X-linked pure spastic paraplegia";0
"Pure or complex hereditary spastic paraplegia";0
"Pure or complex autosomal dominant spastic paraplegia";0
"Pure or complex autosomal recessive spastic paraplegia";0
"Pure or complex X-linked spastic paraplegia";0
"Autosomal dominant spastic paraplegia type 41";0
"Maternally-inherited spastic paraplegia";0
"Autosomal dominant spastic paraplegia type 36";0
"Autosomal recessive spastic paraplegia type 43";0
"Autosomal recessive spastic paraplegia type 55";0
"Autosomal recessive spastic paraplegia type 54";0
"Autosomal recessive spastic paraplegia type 49";0
"Autosomal recessive spastic paraplegia type 46";0
"Autosomal recessive spastic paraplegia type 45";0
"Stormorken-Sjaastad-Langslet syndrome";0
"Autosomal recessive spastic paraplegia type 44";0
"Spastic paraplegia-optic atrophy-neuropathy syndrome";0
"Autosomal recessive spastic paraplegia type 56";0
"Sturge-Weber syndrome";826
"Stüve-Wiedemann syndrome";41
"White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome";0
"Isolated succinate-CoQ reductase deficiency";0
"Multiple osteochondromas";117
"Summitt syndrome";3
"Autosomal dominant optic atrophy and congenital deafness";0
"Deafness-opticoacoustic nerve atrophy-dementia syndrome";0
"Deaf blind hypopigmentation syndrome, Yemenite type";0
"Conductive deafness-malformed external ear syndrome";0
"Deafness-small bowel diverticulosis-neuropathy syndrome";0
"Deafness-epiphyseal dysplasia-short stature syndrome";0
"Fountain syndrome";2
"Exstrophy-epispadias complex";194
"Deafness-enamel hypoplasia-nail defects syndrome";0
"Generalized resistance to thyroid hormone";71
"Genetic tumor of hematopoietic and lymphoid tissues";0
"Phosphoribosylpyrophosphate synthetase superactivity";12
"Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome";0
"Hearing loss-familial salivary gland insensitivity to aldosterone syndrome";0
"Deafness-lymphedema-leukemia syndrome";0
"Deafness-oligodontia syndrome";2
"Deafness-onychodystrophy syndrome";0
"Deafness-ear malformation-facial palsy syndrome";0
"Cochleosaccular degeneration-cataract syndrome";0
"Progressive deafness with stapes fixation";0
"Conductive deafness-ptosis-skeletal anomalies syndrome";0
"Multiple synostoses syndrome";17
"Cardiospondylocarpofacial syndrome";0
"Deafness-vitiligo-achalasia syndrome";0
"Fabry disease";2282
"Central nervous system calcification-deafness-tubular acidosis-anemia syndrome";0
"Deafness-craniofacial syndrome";0
"Renpenning syndrome";16
"Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency";0
"Early-onset Lafora body disease";1
"T-cell immunodeficiency with epidermodysplasia verruciformis";0
"Multiple paragangliomas associated with polycythemia";0
"Sweet syndrome";758
"Severe lateral tibial bowing with short stature";0
"9p13 microdeletion syndrome";0
"Sinoatrial node dysfunction and deafness";0
"Congenital achiasma";2
"Mixed sclerosing bone dystrophy with extra-skeletal manifestations";0
"Hereditary inclusion body myopathy type 4";0
"X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome";0
"Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome";0
"ALG13-CDG";0
"Autosomal recessive axonal neuropathy with neuromyotonia";4
"Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation";0
"Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation";0
"Combined oxidative phosphorylation defect type 11";0
"Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome";0
"Hypopigmentation-punctate palmoplantar keratoderma syndrome";0
"Pontocerebellar hypoplasia type 8";0
"Hyperinsulinism due to HNF1A deficiency";0
"Benign Samaritan congenital myopathy";0
"Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain";0
"Familial dyskinesia and facial myokymia";0
"Symphalangism with multiple anomalies of hands and feet";0
"X-linked cleft palate and ankyloglossia";0
"Classic multiminicore myopathy";0
"Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation";0
"Chikungunya";1752
"Hendra virus infection";24
"Autoerythrocyte sensitization syndrome";15
"Invasive non-typhoidal salmonellosis";6
"ABetaL34V amyloidosis";0
"ABeta amyloidosis, Iowa type";0
"ABeta amyloidosis, Italian type";0
"ABetaA21G amyloidosis";0
"ABeta amyloidosis, Arctic type";0
"SRD5A3-CDG";5
"Microcephalic primordial dwarfism";25
"Trichorhinophalangeal syndrome";106
"Non-familial rare disease with dilated cardiomyopathy";0
"Distal symphalangism";10
"Hereditary periodic fever syndrome";13
"Pyogenic autoinflammatory syndrome";0
"Granulomatous autoinflammatory syndrome";0
"Mixed autoinflammatory and autoimmune syndrome";0
"Unclassified autoinflammatory syndrome";0
"Periodic fever syndrome of childhood";0
"Pyogenic autoinflammatory syndrome of childhood";0
"Granulomatous autoinflammatory syndrome of childhood";0
"Unclassified autoinflammatory syndrome of childhood";0
"Unexplained periodic fever syndrome of childhood";0
"Chronic recurrent multifocal osteomyelitis";273
"MAGIC syndrome";13
"Proteasome disability syndrome";0
"JMP syndrome";4
"Congenital factor II deficiency";0
"Proximal symphalangism";51
"CANDLE syndrome";10
"46,XX disorder of gonadal development";0
"46,XX disorder of sex development induced by fetoplacental androgens excess";0
"46,XX disorder of sex development induced by endogenous maternal-derived androgen";0
"46,XX disorder of sex development induced by exogenous maternal-derived androgen";0
"Syndrome with 46,XX disorder of sex development";0
"46,XY disorder of gonadal development";0
"Testicular agenesis";28
"Zlotogora-Ogur syndrome";8
"46,XY ovotesticular disorder of sex development";0
"46,XY disorder of sex development of endocrine origin";0
"46,XY disorder of sex development due to impaired androgen production";0
"Leydig cell hypoplasia due to LHB deficiency";0
"Filippi syndrome";16
"46,XY disorder of sex development due to a cholesterol synthesis defect";0
"Classic congenital lipoid adrenal hyperplasia due to STAR deficency";0
"Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency";0
"46,XY disorder of sex development induced by maternal-exposure to endocrine disruptors";0
"Sex chromosome disorder of sex development";0
"Disorder of sex development of gynecological interest";0
"46,XY disorder of sex development of gynecological interest";0
"Syndrome with disorder of sex development of gynecological interest";0
"Genetic disorder of sex development of gynecological interest";0
"Genetic disorder of sex development";0
"Genetic 46,XX disorder of sex development";0
"Genetic 46,XY disorder of sex development";0
"Genetic 46,XY disorder of sex development of endocrine origin";0
"Cenani-Lenz syndrome";13
"Syndactyly-polydactyly-ear lobe syndrome";0
"Congenital factor V deficiency";40
"Idiopathic hypereosinophilic syndrome";401
"Autoimmune lymphoproliferative syndrome";322
"Syngnathia multiple anomalies";0
"Syngnathia-cleft palate syndrome";0
"Humero-radial synostosis";10
"Humero-radio-ulnar synostosis";1
"Familial lambdoid synostosis";0
"Radioulnar synostosis-microcephaly-scoliosis syndrome";0
"Congenital radioulnar synostosis";36
"Congenital factor VII deficiency";92
"Radioulnar synostosis-developmental delay-hypotonia syndrome";0
"Radio-ulnar synostosis-retinal pigment abnormalities syndrome";0
"Synovial sarcoma";2586
"Granulomatous arthritis of childhood";0
"Spondylocarpotarsal synostosis";19
"Disorder of plasmalogens biosynthesis";0
"Congenital factor X deficiency";29
"Syringomyelia";2463
"Multifocal atrial tachycardia";87
"His bundle tachycardia";15
"Catecholaminergic polymorphic ventricular tachycardia";423
"Takayasu arteritis";2373
"Taurodontism";198
"Congenital factor XI deficiency";21
"Teebi-Shaltout syndrome";2
"Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis";0
"Congenital muscular dystrophy with intellectual disability and severe epilepsy";0
"Tall stature-scoliosis-macrodactyly of the great toes syndrome";0
"Developmental delay with autism spectrum disorder and gait instability";0
"Tel Hashomer camptodactyly syndrome";11
"Autosomal dominant neovascular inflammatory vitreoretinopathy";8
"Cerebral sinovenous thrombosis";123
"Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome";0
"Microcephalic primordial dwarfism due to ZNF335 deficiency";0
"X-linked central congenital hypothyroidism with late-onset testicular enlargement";0
"Congenital chronic diarrhea with protein-losing enteropathy";0
"Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency";0
"Spondylocostal dysostosis-hypospadias-intellectual disability syndrome";0
"Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency";0
"Autosomal dominant Charcot-Marie-Tooth disease type 2Q";0
"Beta-propeller protein-associated neurodegeneration";17
"Telecanthus-hypertelorism-strabismus-pes cavus syndrome";0
"PLA2G6-associated neurodegeneration";17
"Fatty acid hydroxylase-associated neurodegeneration";5
"Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency";0
"Hereditary thrombocytosis with transverse limb defect";0
"Inverse Klippel-Trénaunay syndrome";3
"Autosomal recessive frontotemporal pachygyria";1
"Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome";0
"Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy";0
"Limbic encephalitis with DPP6 antibodies";0
"Extensor tendons of finger anomalies";0
"Distal arthrogryposis type 5D";5
"Autosomal dominant focal dystonia, DYT25";0
"Acute megakaryoblastic leukemia without Down syndrome";0
"Spastic paraplegia-Paget disease of bone syndrome";0
"Adult-onset distal myopathy due to VCP mutation";0
"Lipoprotein glomerulopathy";73
"Tumor necrosis factor receptor 1 associated periodic syndrome";8
"5p13 microduplication syndrome";0
"Mosaic genome-wide paternal uniparental disomy";0
"Idiopathic giant cell myocarditis";37
"Non-hypoproteinemic hypertrophic gastropathy";0
"Juvenile idiopathic inflammatory myopathy";12
"Juvenile overlap myositis";0
"Tetanus";11122
"Immunoglobulin-mediated membranoproliferative glomerulonephritis";0
"Non-immunoglobulin-mediated membranoproliferative glomerulonephritis";0
"C3 glomerulonephritis";73
"Transient neonatal multiple acyl-CoA dehydrogenase deficiency";0
"Intermittent hydrarthrosis";6
"Generalized juvenile polyposis/juvenile polyposis coli";0
"Classic neuroendocrine tumor of appendix";0
"Goblet cell carcinoma";5
"Lymphomatous meningitis";71
"Isovaleric acidemia";120
"Congenital factor XII deficiency";16
"Wild type ATTR amyloidosis";4
"Poliomyelitis in patients with immunodeficiencies deemed at risk";0
"Lymphedema-distichiasis syndrome";35
"High altitude pulmonary edema";443
"Lead poisoning";3995
"Mercury poisoning";1367
"Hypotrichosis-deafness syndrome";3
"Hemoglobin Lepore-beta-thalassemia syndrome";0
"Hemoglobin M disease";3
"Lethal encephalopathy due to mitochondrial and peroxisomal fission defect";0
"Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome";0
"Hydroa vacciniforme";152
"Actinic prurigo";115
"Chronic actinic dermatitis";144
"Tetraamelia-multiple malformations syndrome";0
"Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome";0
"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability";0
"Tetralogy of Fallot";5910
"Fallot complex-intellectual disability-growth delay syndrome";0
"Tetraploidy";677
"Duplication/inversion 15q11";0
"Metaphyseal chondrodysplasia, Jansen type";0
"Dravet syndrome";432
"Tetrasomy 18p";38
"Tetrasomy 5p";6
"Congenital factor XIII deficiency";61
"Tetrasomy 9p";42
"Lethal multiple pterygium syndrome";36
"Infantile symmetrical thalamic degeneration";0
"Autosomal agammaglobulinemia";2
"Granulomatous slack skin";53
"Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency";0
"Constitutional neutropenia with extra-hematopoietic manifestations";0
"Immunodeficiency due to MASP-2 deficiency";0
"Immunodeficiency due to ficolin3 deficiency";0
"Other immunodeficiency syndromes due to defects in innate immunity";0
"Thalidomide embryopathy";67
"Severe combined immunodeficiency due to complete RAG1/2 deficiency";0
"Syndrome with combined immunodeficiency";0
"Immunodeficiency due to absence of thymus";0
"Hyper-IgE syndrome";377
"Susceptibility to infection due to TYK2 deficiency";0
"Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells";0
"Selective IgM deficiency";47
"Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells";0
"Other immunodeficiency syndrome with predominantly antibody defects";0
"Immunodeficiency syndrome with hypopigmentation";0
"Thiemann disease, familial form";0
"Thomas syndrome";5
"Thoracolaryngopelvic dysplasia";3
"Essential thrombocythemia";2715
"Congenital amegakaryocytic thrombocytopenia";76
"Congenital intrinsic factor deficiency";7
"Thrombocytopenia-absent radius syndrome";33
"Idiopathic hypersomnia";213
"Hoyeraal-Hreidarsson syndrome";56
"Waldenström macroglobulinemia";2210
"Thrombocytopenia-Robin sequence syndrome";0
"Familial thrombomodulin anomalies";0
"Heparin-induced thrombocytopenia";2533
"Thymic-renal-anal-lung dysplasia";0
"Thyrocerebrorenal syndrome";0
"Kaposi sarcoma";6834
"Absent tibia-polydactyly-arachnoid cyst syndrome";0
"Tibial aplasia-ectrodactyly syndrome";0
"Farber disease";76
"Jessner lymphocytic infiltration of the skin";0
"Hypoplastic tibiae-postaxial polydactyly syndrome";0
"Connective tissue dysplasia, Spellacy type";0
"Reticular dysgenesis";36
"Tomé-Brunet-Fardeau syndrome";0
"Trichothiodystrophy";333
"Primary Fanconi syndrome";5
"Toriello-Carey syndrome";23
"Toriello-Lacassie-Droste syndrome";0
"Familial atrial fibrillation";74
"Pediatric hepatocellular carcinoma";14
"Bullous lichen planus";22
"Torticollis-keloids-cryptorchidism-renal dysplasia syndrome";0
"Arterial tortuosity syndrome";60
"Toxocariasis";1018
"Weismann-Netter syndrome";7
"Neuroectodermal melanolysosomal disease";4
"Tracheal agenesis";111
"Mounier-Kühn syndrome";63
"Meningococcal meningitis";2835
"Tracheobronchopathia osteochondroplastica";88
"Treft-Sanborn-Carey syndrome";1
"Congenital fibrinogen deficiency";13
"Tremor-nystagmus-duodenal ulcer syndrome";0
"Trichodental syndrome";2
"Tricho-dento-osseous syndrome";36
"Trichodermodysplasia-dental alterations syndrome";0
"Tricho-oculo-dermo-vertebral syndrome";1
"Kleine-Levin syndrome";188
"Trichoodontoonychial dysplasia";0
"Autosomal dominant trichoodontoonychodysplasia-syndactyly";0
"5-oxoprolinase deficiency";12
"Gamma-glutamyl transpeptidase deficiency";9
"Gamma-glutamylcysteine synthetase deficiency";4
"Nodular non-suppurative panniculitis";0
"Trichodermal syndrome-intellectual disability syndrome";0
"Trichodysplasia-xeroderma syndrome";0
"Trichomegaly-retina pigmentary degeneration-dwarfism syndrome";0
"Trigonocephaly-broad thumbs syndrome";0
"Isolated trigonocephaly";4
"Trigonocephaly-bifid nose-acral anomalies syndrome";0
"Trigonocephaly-short stature-developmental delay syndrome";0
"Fibrodysplasia ossificans progressiva";341
"Triopia";1
"Trisomy X";57
"Triploidy";738
"Trismus-pseudocamptodactyly syndrome";19
"Trisomy 13";1148
"Distal trisomy 17q";3
"Familial multiple fibrofolliculoma";0
"Trisomy 18";1785
"Humerus trochlea aplasia";0
"Truncus arteriosus";1043
"African trypanosomiasis";2037
"American trypanosomiasis";306
"Isolated anterior cervical hypertrichosis";0
"Neural tube defect";1082
"Tuberculosis";79975
"Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome";0
"Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome";0
"Tularemia";1179
"Soft tissue sarcoma";4780
"Thymic epithelial neoplasm";23
"Germ cell tumor";2998
"Pipecolic acidemia";4
"Hemorrhagic fever-renal syndrome";6
"Aorto-ventricular tunnel";7
"Transient tyrosinemia of the newborn";0
"Uhl anomaly";15
"Ulbright-Hodes syndrome";0
"Umbilical cord ulceration-intestinal atresia syndrome";0
"Ulerythema ophryogenesis";0
"Upington disease";0
"Urban-Rogers-Meyer syndrome";1
"Viral hemorrhagic fever";270
"Double uterus-hemivagina-renal agenesis syndrome";0
"VACTERL with hydrocephalus";0
"Autosomal dominant medullary cystic kidney disease with or without hyperuricemia";0
"Hyperostosis corticalis generalisata";12
"Van den Bosch syndrome";0
"Van Regemorter-Pierquin-Vamos syndrome";0
"Familial Mediterranean fever";2276
"Cerebroretinal vasculopathy";10
"Naxos disease";47
"Vasquez-Hurst-Sotos syndrome";0
"Velo-facial-skeletal syndrome";0
"Double outlet right ventricle";1298
"Double outlet left ventricle";73
"Verloove Vanhorick-Brubakk syndrome";0
"Hyperimmunoglobulinemia D with periodic fever";0
"Microcephaly-brachydactyly-kyphoscoliosis syndrome";0
"MMEP syndrome";0
"Vogt-Koyanagi-Harada disease";398
"Biliary tract malformation-renal failure syndrome";0
"Von Voss-Cherstvoy syndrome";6
"Arbovirus fever";0
"Waardenburg syndrome";529
"Watson syndrome";18
"Weaver-like syndrome";4
"Weaver syndrome";62
"Weaver-Williams syndrome";0
"Weill-Marchesani syndrome";93
"Dissecting cellulitis of the scalp";39
"Weissenbacher- Zweymuller syndrome";10
"West syndrome";838
"Autosomal recessive limb-girdle muscular dystrophy type 2G";0
"Autosomal recessive limb-girdle muscular dystrophy type 2I";0
"Autosomal dominant limb-girdle muscular dystrophy type 1D";0
"Autosomal dominant limb-girdle muscular dystrophy type 1E";0
"Whipple disease";827
"Congenital muscular dystrophy with integrin alpha-7 deficiency";0
"Distal myopathy with early respiratory muscle involvement";0
"Familial primary hypomagnesemia";0
"Familial primary hypomagnesemia with normocalciuria and normocalcemia";0
"Autosomal dominant primary hypomagnesemia with hypocalciuria";0
"Autoimmune polyendocrinopathy type 1";3
"Corneal dystrophy";1473
"Intellectual disability-developmental delay-contractures syndrome";0
"Wiedemann-Rautenstrauch syndrome";29
"Wildervanck syndrome";22
"Glycogen storage disease due to LAMP-2 deficiency";0
"Wilson-Turner syndrome";1
"Immunodeficiency by defective expression of HLA class 1";0
"Quinquaud's folliculitis decalvans";0
"Torg-Winchester syndrome";7
"Wolfram syndrome";377
"Woodhouse-Sakati syndrome";16
"Worster-Drought syndrome";18
"WT limb-blood syndrome";0
"Hereditary xanthinuria";36
"XK aprosencephaly";10
"Frasier syndrome";98
"Young syndrome";11
"Yunis-Varon syndrome";27
"Zimmermann-Laband syndrome";31
"CHIME syndrome";6
"Fructose-1,6-bisphosphatase deficiency";23
"Fucosidosis";188
"Propionic acidemia";347
"Idiopathic recurrent and disabling cutaneous herpes";0
"Idiopathic disseminated cytomegalovirus infection";0
"Fulminant viral hepatitis";79
"Lethal idiopathic viral infection";0
"Idiopathic severe pneumococcemia";0
"Infantile neuroaxonal dystrophy";144
"T-B+ severe combined immunodeficiency due to JAK3 deficiency";0
"Isolated scaphocephaly";0
"Isolated plagiocephaly";0
"Isolated brachycephaly";0
"Galactosialidosis";175
"Desmosterolosis";35
"Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency";0
"Acid phosphatase deficiency";5
"Congenital sucrase-isomaltase deficiency";31
"Epidermal nevus syndrome";127
"X-linked dominant chondrodysplasia punctata";65
"Galactosemia";703
"Genetic muscular channelopathy";0
"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis";0
"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement";0
"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement";0
"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement";0
"MEGDEL syndrome";10
"Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome";0
"Spectrin-associated autosomal recessive cerebellar ataxia";0
"Progressive external ophthalmoplegia-myopathy-emaciation syndrome";0
"Mitochondrial DNA maintenance syndrome";0
"Mitochondrial DNA deletion syndrome with progressive myopathy";0
"Autosomal recessive limb-girdle muscular dystrophy type 2U";0
"Digital anomalies-intellectual disability-short stature syndrome";0
"Autism spectrum disorder due to AUTS2 deficiency";0
"Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome";0
"Oncogenic osteomalacia";216
"Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency";0
"Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome";0
"Familial infantile myoclonic epilepsy";7
"Focal epilepsy-intellectual disability-cerebro-cerebellar malformation";0
"Progressive myoclonic epilepsy with dystonia";0
"Male infertility due to NANOS1 mutation";0
"16q24.1 microdeletion syndrome";0
"Phalangeal microgeodic syndrome";10
"Autosomal recessive cerebellar ataxia with late-onset spasticity";0
"Brain dopamine-serotonin vesicular transport disease";0
"Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome";0
"Hereditary benign intraepithelial dyskeratosis";13
"Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome";0
"Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion";0
"Autosomal dominant intermediate Charcot-Marie-Tooth disease type F";0
"X-linked Charcot-Marie-Tooth disease type 6";0
"Cobblestone lissencephaly without muscular or ocular involvement";0
"Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies";0
"CLN13 disease";0
"Facial dysmorphism-immunodeficiency-livedo-short stature syndrome";0
"Progressive retinal dystrophy due to retinol transport defect";0
"Attenuated Chédiak-Higashi syndrome";0
"Disorder of melanin metabolism";0
"Oculocutaneous albinism type 1";37
"Minimal pigment oculocutaneous albinism type 1";0
"Temperature-sensitive oculocutaneous albinism type 1";0
"Ocular albinism with congenital sensorineural deafness";0
"Oculocutaneous albinism type 7";0
"Scleredema";178
"Autosomal recessive limb-girdle muscular dystrophy type 2C";0
"Epileptic encephalopathy with global cerebral demyelination";0
"Familial primary localized cutaneous amyloidosis";4
"Burning mouth syndrome";705
"Rubinstein-Taybi syndrome due to CREBBP mutations";0
"Rubinstein-Taybi syndrome due to 16p13.3 microdeletion";0
"Rubinstein-Taybi syndrome due to EP300 haploinsufficiency";0
"Roifman syndrome";8
"Pyruvate carboxylase deficiency, infantile form";0
"Pyruvate carboxylase deficiency, severe neonatal type";0
"Pyruvate carboxylase deficiency, benign type";0
"Congenital myasthenic syndromes with glycosylation defect";0
"Congenital retinal arteriovenous communication";1
"Idiopathic macular telangiectasia type 1";5
"Idiopathic macular telangiectasia type 3";0
"Vasoproliferative tumor of retina";0
"GM1 gangliosidosis";499
"Gaucher disease";2885
"Gerstmann-Straussler-Scheinker syndrome";156
"Nanophthalmia";7
"Coenzyme Q10 deficiency";101
"ALDH18A1-related De Barsy syndrome";0
"Serpiginous choroiditis";104
"Erdheim-Chester disease";442
"Madelung deformity";113
"Primary lateral sclerosis";225
"3q26q27 microdeletion syndrome";0
"Mitochondrial disorder due to a defect in mitochondrial protein synthesis";0
"SLC35A2-CDG";4
"D,L-2-hydroxyglutaric aciduria";0
"Mitochondrial DNA depletion syndrome";86
"Intellectual disability-hypotonia-spasticity-sleep disorder syndrome";0
"19p13.13 microdeletion syndrome";0
"Atypical hemolytic-uremic syndrome with DGKE deficiency";0
"3-hydroxy-3-methylglutaryl-CoA synthase deficiency";0
"Hereditary retinoblastoma";221
"Non-hereditary retinoblastoma";15
"L-Arginine:glycine amidinotransferase deficiency";1
"Amyotrophic lateral sclerosis type 4";3
"Neurometabolic disorder due to serine deficiency";0
"Autosomal recessive cutis laxa type 2A";1
"Glutaric acidemia type 3";0
"Autosomal recessive cutis laxa type 2B";0
"Autosomal recessive cutis laxa type 2, classic type";0
"Aromatic L-amino acid decarboxylase deficiency";34
"Glucose-galactose malabsorption";85
"Arterial thoracic outlet syndrome";27
"Venous thoracic outlet syndrome";36
"Oral submucous fibrosis";672
"Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome";0
"Short ulna-dysmorphism-hypotonia-intellectual disability syndrome";0
"Selection of therapeutic option in non-small cell lung carcinoma";0
"Selection of therapeutic option in colorectal cancer";0
"Primary essential cutis verticis gyrata";5
"Primary non-essential cutis verticis gyrata";0
"Severe combined immunodeficiency due to CARD11 deficiency";0
"Cryptosporidiosis-chronic cholangitis-liver disease syndrome";0
"Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome";0
"Morning glory syndrome";89
"Idiopathic nephrotic syndrome";837
"Genetic non-syndromic renal or urinary tract malformation";0
"Gitelman syndrome";302
"Malignant germ cell tumor of ovary";2
"Malignant sex cord stromal tumor of ovary";0
"Gräsbeck-Imerslund disease";3
"Hyperinsulinism-hyperammonemia syndrome";34
"Acute opioid poisoning";0
"Hereditary glaucoma";7
"Combined deficiency of factor V and factor VIII";0
"Polymicrogyria";777
"Acrocallosal syndrome";120
"Glioblastoma";23478
"Familial glucocorticoid deficiency";103
"Intestinal lymphangiectasia";300
"Bacterial toxic-shock syndrome";0
"Staphylococcal scarlet fever";18
"Staphylococcal scalded skin syndrome";293
"Bullous impetigo";126
"Staphylococcal necrotizing pneumonia";4
"Buerger disease";91
"Gastric linitis plastica";21
"Congenital anomaly of the great veins";0
"Ring chromosome";812
"Genetic progeroid syndrome";0
"Ciliopathy";399
"Rare hereditary iron overload disease";0
"Genetic syndromic Pierre Robin syndrome";0
"Genetic intractable diarrhea of infancy";0
"Genetic intestinal disease due to fat malabsorption";0
"Genetic intestinal polyposis";0
"High myopia-sensorineural deafness syndrome";0
"Severe neurodegenerative syndrome with lipodystrophy";0
"Fetal akinesia-cerebral and retinal hemorrhage syndrome";0
"Hypomyelination with brain stem and spinal cord involvement and leg spasticity";0
"Temtamy preaxial brachydactyly syndrome";4
"Fatal multiple mitochondrial dysfunctions syndrome type 3";0
"Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome";0
"Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency";0
"THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome";0
"Autosomal dominant childhood-onset proximal spinal muscular atrophy";0
"Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures";0
"Tumor of testis and paratestis";0
"Paratesticular adenocarcinoma";0
"Testicular teratoma";186
"Sex cord-stromal tumor of testis";0
"Non-seminomatous germ cell tumor of testis";0
"Germ cell tumor of testis";0
"Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome";0
"Intellectual disability-strabismus syndrome";0
"Mitochondrial DNA depletion syndrome, hepatocerebrorenal form";0
"Leukoencephalopathy with mild cerebellar ataxia and white matter edema";0
"Autosomal recessive limb-girdle muscular dystrophy type 2R";0
"Acute encephalopathy with biphasic seizures and late reduced diffusion";51
"P2Y12 defect";0
"New-onset refractory status epilepticus";19
"Acute encephalopathy with inflammation-mediated status epilepticus";0
"Extragonadal germ cell tumor";109
"Gonadal germ cell tumor";17
"Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome";0
"LMNA-related cardiocutaneous progeria syndrome";0
"Autosomal recessive limb-girdle muscular dystrophy type 2T";0
"Mandibular hypoplasia-deafness-progeroid syndrome";0
"X-linked parkinsonism-spasticity syndrome";0
"20q11.2 microduplication syndrome";0
"Acroosteolysis-keloid-like lesions-premature aging syndrome";0
"Distal monosomy 1q";0
"Childhood-onset autosomal recessive myopathy with external ophthalmoplegia";0
"2p13.2 microdeletion syndrome";0
"Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome";0
"Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome";0
"Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion";0
"Craniofaciofrontodigital syndrome";1
"Spinocerebellar ataxia type 37";0
"Alexander disease type I";0
"Alexander disease type II";0
"X-linked dyserythropoetic anemia with abnormal platelets and neutropenia";0
"Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome";0
"Balint syndrome";39
"Familial cervical artery dissection";0
"COL4A1-related familial vascular leukoencephalopathy";0
"Hereditary sensory and autonomic neuropathy type 1";12
"Generalized epilepsy with febrile seizures-plus";177
"Paraneoplastic neurologic syndrome";33
"17q21.31 microdeletion syndrome";24
"Koolen-De Vries syndrome due to a point mutation";0
"Autosomal recessive cerebral atrophy";0
"Adiposis dolorosa";62
"Noonan syndrome-like disorder with juvenile myelomonocytic leukemia";0
"Giant cell tumor of bone";1590
"Charcot-Marie-Tooth disease type 4B3";0
"Familial benign flecked retina";0
"Ichthyosis-short stature-brachydactyly-microspherophakia syndrome";0
"Non-immune hydrops fetalis";168
"Glycogen storage disease due to glucose-6-phosphatase deficiency";0
"Immune hydrops fetalis";176
"X-linked intellectual disability due to GRIA3 anomalies";0
"Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood";0
"Hydroa vacciniforme-like lymphoma";22
"ALK-positive large B-cell lymphoma";14
"Severe early-childhood-onset retinal dystrophy";1
"Infantile epileptic-dyskinetic encephalopathy";1
"Hypocomplementemic urticarial vasculitis";87
"Resistance to bleomycine in the treatment of testicular cancer";0
"Bipartite talus";2
"Stevens-Johnson syndrome";2771
"Primary bone dysplasia";2
"Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments";0
"Primary bone dysplasia with micromelia";0
"Otopalatodigital syndrome spectrum disorder";0
"Dysostosis";2409
"Dysostosis with limb anomaly as a major feature";0
"Dysostosis with limb and face anomalies as a major feature";0
"Acrofacial dysostosis";126
"Intellectual disability-brachydactyly-Pierre Robin syndrome";0
"Rare bone disease related to a common gene or pathway defect";0
"Aggrecan-related bone disorder";0
"TRPV4-related bone disorder";0
"Glycogen storage disease due to acid maltase deficiency";0
"Primary short bowel syndrome";0
"Glycogen storage disease due to glycogen debranching enzyme deficiency";0
"Glycogen storage disease due to glycogen branching enzyme deficiency";0
"Glycogen storage disease due to muscle glycogen phosphorylase deficiency";0
"Myoclonus-dystonia syndrome";45
"Glycogen storage disease due to liver glycogen phosphorylase deficiency";0
"Autoimmune hypoparathyroidism";25
"Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome";0
"Autosomal recessive limb-girdle muscular dystrophy type 2S";0
"Intellectual disability-hyperkinetic movement-truncal ataxia syndrome";0
"Congenital neutropenia-myelofibrosis-nephromegaly syndrome";0
"Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome";0
"Autosomal recessive intermediate Charcot-Marie-Tooth disease type C";0
"Obesity due to SIM1 deficiency";0
"2p21 microdeletion syndrome without cystinuria";0
"Homozygous 2p21 microdeletion syndrome";0
"Cardiac anomalies-developmental delay-facial dysmorphism syndrome";0
"Early infantile epileptic encephalopathy without suppression burst";0
"Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies";0
"Combined oxidative phosphorylation defect type 17";0
"Pontocerebellar hypoplasia type 9";0
"Aldosterone-producing adenoma with seizures and neurological abnormalities";0
"Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome";0
"CADDS";7
"Intellectual disability-seizures-macrocephaly-obesity syndrome";0
"Methylmalonic acidemia with homocystinuria, type cblJ";0
"Methylmalonic acidemia with homocystinuria, type cblX";0
"Microcornea-myopic chorioretinal atrophy-telecanthus syndrome";0
"Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome";0
"Severe dermatitis-multiple allergies-metabolic wasting syndrome";0
"Diffuse palmoplantar keratoderma with painful fissures";0
"Acrodermatitis enteropathica";361
"Glycogen storage disease due to phosphorylase kinase deficiency";0
"Focal palmoplantar keratoderma with joint keratoses";0
"Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome";0
"Intellectual disability-facial dysmorphism-hand anomalies syndrome";0
"Spondyloepimetaphyseal dysplasia, Isidor type";0
"Spondylometaphyseal dysplasia, Czarny-Ratajczak type";0
"Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome";0
"Acute myeloid leukemia with t(8;16)(p11;p13) translocation";0
"Familial syringomyelia";12
"Angora hair nevus";1
"Didymosis aplasticosebacea";5
"SCALP syndrome";6
"NEVADA syndrome";0
"Fetal anticonvulsant syndrome";13
"Fetal carbamazepine syndrome";1
"Proximal 16p11.2 microduplication syndrome";0
"Acute infantile liver failure-multisystemic involvement syndrome";0
"Oculocutaneous albinism type 5";0
"Oculocutaneous albinism type 6";0
"Primary dystonia, DYT17 type";0
"Rare disorder with dystonia and other neurologic or systemic manifestation";0
"Ataxia-telangiectasia variant";4
"Combined cervical dystonia";0
"Medich giant platelet syndrome";0
"White platelet syndrome";7
"Extraskeletal Ewing sarcoma";48
"Peripheral primitive neuroectodermal tumor";219
"Small cell carcinoma of the ovary";100
"Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome";0
"STT3A-CDG";1
"STT3B-CDG";1
"SSR4-CDG";1
"XYLT1-CDG";0
"GM3 synthase deficiency";7
"Salt-and-pepper syndrome";0
"Autism spectrum disorder-epilepsy-arthrogryposis syndrome";0
"Congenital muscular dystrophy due to dystroglycanopathy";0
"Congenital muscular dystrophy with cerebellar involvement";0
"Congenital muscular dystrophy with intellectual disability";0
"Congenital muscular dystrophy without intellectual disability";0
"Muscle-eye-brain disease with bilateral multicystic leucodystrophy";0
"Glycogen storage disease due to muscle phosphofructokinase deficiency";0
"Congenital muscular dystrophy with hyperlaxity";0
"Qualitative or quantitative defects of alpha-dystroglycan";0
"Primary qualitative or quantitative defects of alpha-dystroglycan";0
"Congenital disorder of glycosylation with neurological involvement";0
"X-linked congenital disorder of glycosylation with intellectual disability as a major feature";0
"Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature";0
"Congenital disorder of glycosylation with epilepsy as a major feature";0
"Congenital disorder of glycosylation with hepatic involvement";0
"Congenital disorder of glycosylation with dilated cardiomyopathy";0
"Congenital disorder of glycosylation with cardiac malformation as a major feature";0
"Congenital disorder of glycosylation with intestinal involvement";0
"Congenital disorder of glycosylation-related bone disorder";0
"Congenital disorder of glycosylation with skin involvement";0
"Congenital disorder of glycosylation with nephropathy as a major feature";0
"Congenital disorder of glycosylation with deafness as a major feature";0
"Congenital disorder of glycosylation with developmental anomaly";0
"Hypotonia-speech impairment-severe cognitive delay syndrome";0
"Multicentric osteolysis-nodulosis-arthropathy spectrum";0
"Genetic periodic paralysis";0
"Genetic neurovascular malformation";0
"Genetic cerebrovascular dementia";0
"Sphingolipidosis with epilepsy";0
"Genetic syndromic esophageal malformation";0
"Genetic hyperaldosteronism";0
"Interstitial cystitis";1953
"Simpson-Golabi-Behmel syndrome";182
"Goldenhar syndrome";571
"Anti-glomerular basement membrane disease";872
"Cardiodysrhythmic potassium-sensitive periodic paralysis";0
"Acquired kinky hair syndrome";0
"Gordon syndrome";37
"Episodic ataxia type 1";60
"Neonatal neutropenia";116
"Generalized isolated dystonia";0
"Gorlin syndrome";347
"Schnitzler syndrome";119
"Chronic granulomatous disease";2740
"Acrokeratoelastoidosis of Costa";12
"Greig cephalopolysyndactyly syndrome";70
"Griscelli disease";13
"Guanidinoacetate methyltransferase deficiency";51
"X-linked mixed deafness with perilymphatic gusher";0
"Palmoplantar keratoderma-sclerodactyly syndrome";0
"Neurodegeneration with brain iron accumulation";221
"Hepatic cystic hamartoma";0
"Hirschsprung disease";3004
"Dihydropyrimidinuria";10
"Langerhans cell histiocytosis";3537
"Acromelanosis";4
"Histoplasmosis";2817
"Omenn syndrome";150
"Uveal melanoma";2449
"Classic Hodgkin lymphoma";117
"Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome";0
"Susceptibility to viral and mycobacterial infections";0
"Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression";0
"East Texas bleeding disorder";4
"X-linked calvarial hyperostosis";2
"X-linked osteoporosis with fractures";0
"Fatal post-viral neurodegenerative disorder";0
"Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome";0
"SURF1-related Charcot-Marie-Tooth disease type 4";0
"Growth retardation-mild developmental delay-chronic hepatitis syndrome";0
"Intellectual disability-severe speech delay-mild dysmorphism syndrome";0
"Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome";0
"Disorder of asparagine metabolism";0
"Familial episodic pain syndrome";6
"Familial episodic pain syndrome with predominantly upper body involvement";0
"Familial episodic pain syndrome with predominantly lower limb involvement";0
"Hereditary sensory and autonomic neuropathy type 7";0
"Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome";0
"Atypical juvenile parkinsonism";2
"HSD10 disease";5
"HSD10 disease, infantile type";0
"HSD10 disease, neonatal type";0
"Frontorhiny";3
"Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome";0
"Adult-onset myasthenia gravis";4
"Juvenile myasthenia gravis";66
"Transient neonatal myasthenia gravis";18
"Feingold syndrome type 1";0
"Feingold syndrome type 2";2
"Glomus tumor";1172
"Off-periods in Parkinson disease not responding to oral treatment";0
"Homozygous familial hypercholesterolemia";465
"Necrotizing enterocolitis";4653
"Short stature-optic atrophy-Pelger-Huët anomaly syndrome";0
"Persistent combined dystonia";0
"Mucinous adenocarcinoma of the appendix";0
"Rare genetic dystonia";0
"Holt-Oram syndrome";225
"46,XX testicular disorder of sex development";8
"Classic homocystinuria";11
"Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type";0
"Multiple acyl-CoA dehydrogenase deficiency, mild type";0
"Homocystinuria due to methylene tetrahydrofolate reductase deficiency";0
"Chronic hiccup";13
"Giant cell arteritis";3432
"Deep dermatophytosis";19
"Silver-Russell syndrome due to a point mutation";0
"Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency";0
"Activated PI3K-delta syndrome";8
"PrP systemic amyloidosis";0
"Macrocephaly-developmental delay syndrome";0
"Obesity due to CEP19 deficiency";0
"Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome";0
"Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome";0
"Familial  hyperprolactinemia";0
"Hereditary isolated aplastic anemia";0
"3q27.3 microdeletion syndrome";0
"Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome";0
"Joubert syndrome with Jeune asphyxiating thoracic dystrophy";0
"COASY protein-associated neurodegeneration";0
"Autosomal dominant Charcot-Marie-Tooth disease type 2U";0
"Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome";0
"Periodic paralysis with later-onset distal motor neuropathy";0
"Periodic paralysis with transient compartment-like syndrome";0
"Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies";0
"Severe combined immunodeficiency due to IKK2 deficiency";0
"T+ B+ severe combined immunodeficiency";23
"Ferro-cerebro-cutaneous syndrome";2
"Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome";0
"Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome";0
"Polyglucosan body myopathy type 1";0
"MAN1B1-CDG";3
"Autosomal recessive spastic paraplegia type 58";0
"Microcephaly-thin corpus callosum-intellectual disability syndrome";0
"TCR-alpha-beta-positive T-cell deficiency";0
"Combined immunodeficiency due to MALT1 deficiency";0
"Charcot-Marie-Tooth disease type 2R";0
"Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome";0
"Malignant tumor of penis";0
"Adenocarcinoma of penis";0
"Squamous cell carcinoma of penis";12
"Refractory celiac disease";123
"Prader-Willi syndrome due to point mutation";0
"Prader-Willi-like syndrome";9
"Prader-Willi-like syndrome due to point mutation";0
"Hereditary cryohydrocytosis with normal stomatin";0
"Secondary neonatal autoimmune disease";0
"Neonatal antiphospholipid syndrome";5
"Neonatal autoimmune hemolytic anemia";0
"Neonatal dermatomyositis";0
"Graft versus host disease";14015
"Neonatal lupus erythematosus";257
"Neonatal scleroderma";5
"Persistent idiopathic facial pain";52
"Oculoauriculofrontonasal syndrome";9
"Focal facial dermal dysplasia";12
"Focal facial dermal dysplasia type II";0
"Focal facial dermal dysplasia type IV";0
"Malignant epithelial tumor of ovary";0
"Malignant non-epithelial tumor of ovary";0
"Mucinous adenocarcinoma of ovary";0
"Clear cell adenocarcinoma of ovary";0
"Primary peritoneal serous/papillary carcinoma";0
"Malignant teratoma of ovary";0
"Huntington disease";7400
"Alpha-B crystallin-related late-onset distal myopathy";0
"KLHL9-related early-onset distal myopathy";0
"Finnish upper limb-onset distal myopathy";0
"Distal anoctaminopathy";0
"Nebulin-related early-onset distal myopathy";0
"Osteonecrosis";7722
"Avascular necrosis";4371
"Secondary avascular necrosis";5
"Traumatic avascular necrosis";36
"Secondary non-traumatic avascular necrosis";0
"Rare hereditary disease with avascular necrosis";0
"Osteonecrosis of the jaw";1258
"Primary avascular necrosis";2
"Idiopathic avascular necrosis";76
"Osteochondrosis";850
"Epiphysiolysis of the hip";0
"Osteonecrosis of genetic origin";0
"Avascular necrosis of genetic origin";0
"Osteochondrosis of genetic origin";0
"Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder";0
"Rare male infertility due to adrenal disorder";0
"Rare male infertility due to testicular endocrine disorder";0
"Male infertility due to gonadal dysgenesis or sperm disorder";0
"Male infertility due to sperm disorder";0
"Male infertility with spermatogenesis disorder";0
"Male infertility with spermatogenesis disorder due to single gene mutation";0
"Male infertility with azoospermia or oligozoospermia due to single gene mutation";0
"Male infertility with teratozoospermia due to single gene mutation";0
"Male infertility due to sperm motility disorder";0
"Rare disorder with obstructive azoospermia";0
"Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder";0
"Rare female infertility due to a congenital hypogonadotropic hypogonadism";0
"Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism";0
"Rare female infertility due to an adrenal disorder";0
"Rare female infertility due to an anomaly of ovarian function";0
"Female infertility due to gonadal dysgenesis";0
"Female infertility due to an implantation defect";0
"Rare genetic male infertility";0
"Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin";0
"Rare male infertility due to adrenal disorder of genetic origin";0
"Male infertility due to obstructive azoospermia of genetic origin";0
"Acromesomelic dysplasia, Maroteaux type";6
"Cystic echinococcosis";920
"Rare genetic disorder with obstructive azoospermia";0
"Rare genetic female infertility";0
"Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin";0
"Rare female infertility due to adrenal disorder of genetic origin";0
"Rare female infertility due to an anomaly of ovarian function of genetic origin";0
"Female infertility due to an implantation defect of genetic origin";0
"Hymenolepiasis";165
"Pancytopenia-developmental delay syndrome";0
"Proximal myopathy with extrapyramidal signs";0
"Optic atrophy-intellectual disability syndrome";0
"Autosomal recessive spastic paraplegia type 61";0
"Autosomal recessive spastic paraplegia type 62";0
"Autosomal recessive spastic paraplegia type 59";0
"Autosomal recessive spastic paraplegia type 60";0
"Autosomal recessive spastic paraplegia type 63";0
"Autosomal recessive spastic paraplegia type 64";0
"Autosomal recessive spastic paraplegia type 66";0
"Autosomal recessive spastic paraplegia type 67";0
"Autosomal recessive spastic paraplegia type 68";0
"Autosomal recessive spastic paraplegia type 69";0
"Autosomal recessive spastic paraplegia type 70";0
"Autosomal recessive spastic paraplegia type 71";0
"Autosomal spastic paraplegia type 72";0
"Lipoic acid biosynthesis defect";0
"Lipoic acid synthetase deficiency";0
"Lipoyl transferase 1 deficiency";0
"Spasticity-ataxia-gait anomalies syndrome";0
"Fatal multiple mitochondrial dysfunctions syndrome type 1";0
"Fatal multiple mitochondrial dysfunctions syndrome type 2";0
"Huntington disease-like syndrome due to C9ORF72 expansions";0
"AXIN2-related attenuated familial adenomatous polyposis";0
"Fibrolamellar hepatocellular carcinoma";201
"9q31.1q31.3 microdeletion syndrome";0
"14q24.1q24.3 microdeletion syndrome";0
"Familial median cleft of the upper and lower lips";0
"Moyamoya disease with early-onset achalasia";0
"Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency";0
"Episodic ataxia with slurred speech";0
"Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome";0
"Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons";0
"MEND syndrome";2
"Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type";0
"1p31p32 microdeletion syndrome";0
"Cold-induced sweating syndrome-hyperthermia spectrum";0
"Karyomegalic interstitial nephritis";11
"Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering";0
"Lichen myxedematosus";64
"Acute myeloid leukemia with t(6;9)(p23;q34)";0
"Acute myeloid leukemia with t(9;11)(p22;q23)";0
"Acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)";0
"Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)";0
"Acute myeloid leukemia with NPM1 somatic mutations";0
"Primary eosinophilic gastrointestinal disease";2
"Eosinophilic colitis";117
"Autosomal recessive distal renal tubular acidosis";18
"Familial bicuspid aortic valve";5
"Progressive myoclonic epilepsy type 5";0
"Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly";0
"Hepatitis delta";1555
"Familial hyperaldosteronism type I";36
"Acitretin/etretinate embryopathy";0
"Familial hyperaldosteronism type II";22
"Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome";0
"Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency";0
"Tall stature-intellectual disability-facial dysmorphism syndrome";0
"ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder";0
"FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome";0
"Alacrimia-choreoathetosis-liver dysfunction syndrome";0
"Multisystemic smooth muscle dysfunction syndrome";5
"Female infertility due to zona pellucida defect";0
"Female infertility due to fertilization defect";0
"Severe intellectual disability-progressive spastic diplegia syndrome";0
"Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome";0
"Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome";0
"Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency";0
"Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency";0
"Chondromyxoid fibroma";302
"Clear cell papillary renal cell carcinoma";51
"Acquired cystic disease-associated renal cell carcinoma";17
"Spinal muscular atrophy with respiratory distress type 2";0
"X-linked distal hereditary motor neuropathy";0
"DITRA";9
"Vasculitis due to ADA2 deficiency";0
"Familial atypical multiple mole melanoma syndrome";29
"Dysostosis of genetic origin";0
"Dysostosis of genetic origin with limb anomaly as a major feature";0
"Genetic syndrome with limb reduction defects";0
"Genetic syndrome with limb malformations as a major feature";0
"Polyarticular juvenile idiopathic arthritis";80
"Rare genetic bone development disorder";0
"Familial hypocalciuric hypercalcemia";236
"Glycine encephalopathy";46
"Isolated glycerol kinase deficiency";9
"Hyperkeratosis lenticularis perstans";27
"Eales disease";159
"Dyschromatosis symmetrica hereditaria";63
"Hyperlipoproteinemia type 1";0
"Pontocerebellar hypoplasia type 10";0
"Williams-Campbell syndrome";21
"Angelman syndrome due to a point mutation";0
"Angelman syndrome due to imprinting defect in 15q11-q13";0
"Central retinal vein occlusion";1315
"Mild phosphoribosylpyrophosphate synthetase superactivity";0
"Severe phosphoribosylpyrophosphate synthetase superactivity";0
"Wolfram-like syndrome";0
"Insulin autoimmune syndrome";91
"Hereditary late-onset Parkinson disease";0
"Nephropathic infantile cystinosis";0
"Juvenile nephropathic cystinosis";1
"Ocular cystinosis";8
"Proton-pump inhibitor-responsive esophageal eosinophilia";29
"Pulmonary non-tuberculous mycobacterial infection";9
"Renal agenesis";1229
"Maternal riboflavin deficiency";2
"Generalized eruptive keratoacanthoma";14
"Familial isolated trichomegaly";0
"Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome";0
"Hyperlipoproteinemia type 3";2
"Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome";0
"13q12.3 microdeletion syndrome";0
"Autosomal recessive cerebellar ataxia due to STUB1 deficiency";0
"PRKAR1B-related neurodegenerative dementia with intermediate filaments";0
"AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome";0
"Epidermolysis bullosa simplex due to BP230 deficiency";0
"Epidermolysis bullosa simplex due to exophilin 5 deficiency";0
"Primary failure of tooth eruption";15
"Dystonia-aphonia syndrome";0
"Antidepressant or antipsychotic toxicity or dose selection";0
"Vitamin K antagonists toxicity or dose selection";0
"Oral antidiabetic drugs toxicity or dose selection";0
"Resistance to vitamin K antagonists";0
"Azathioprine or 6-mercatopurine toxicity or dose selection";0
"Methotrexate toxicity or dose selection";0
"Curariform drugs toxicity";0
"Statin toxicity";22
"Gyrate atrophy of choroid and retina";12
"Genetic facial cleft";0
"Phenytoin or carbamazepine toxicity";0
"Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome";14
"Bilirubin encephalopathy";263
"Primary hyperoxaluria";744
"Neonatal severe primary hyperparathyroidism";21
"Bietti crystalline dystrophy";41
"Congenital adrenal hyperplasia";4231
"Carcinoma of esophagus, salivary gland type";0
"Undifferentiated carcinoma of esophagus";0
"Squamous cell carcinoma of stomach";0
"Hyperprolinemia type 1";1
"Medium chain acyl-CoA dehydrogenase deficiency";284
"Malan overgrowth syndrome";0
"Secondary pulmonary alveolar proteinosis";28
"Semicircular canal dehiscence syndrome";69
"Glycogen storage disease due to acid maltase deficiency, late-onset";0
"Cranio-cervical dystonia with laryngeal and upper-limb involvement";0
"Adult-onset cervical dystonia, DYT23 type";0
"Visual snow syndrome";3
"Temple-Baraitser syndrome";9
"Bleeding disorder due to CalDAG-GEFI deficiency";0
"Severe combined immunodeficiency due to CTPS1 deficiency";0
"Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome";0
"Transient myeloproliferative syndrome";15
"Iminoglycinuria";29
"Woolly hair-palmoplantar keratoderma syndrome";0
"Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency";0
"Autosomal recessive severe congenital neutropenia due to CSF3R deficiency";0
"Combined oxidative phosphorylation defect type 20";0
"Combined oxidative phosphorylation defect type 21";0
"RIDDLE syndrome";7
"Rare genetic odontal or periodontal disorder";0
"Autoimmune encephalopathy with parasomnia and obstructive sleep apnea";0
"Cono-spondylar dysplasia";0
"Idiopathic and/or familial pulmonary arterial hypertension";0
"3-Phosphoglycerate dehydrogenase deficiency";20
"Hereditary clear cell renal cell carcinoma";0
"Malignant hyperthermia of anesthesia";0
"Spinocerebellar ataxia type 40";0
"Spinocerebellar ataxia type 38";0
"Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome";0
"Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency";0
"Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome";0
"Mucolipidosis type III alpha/beta";5
"Mucolipidosis type III gamma";4
"X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome";0
"ARX-related encephalopathy-brain malformation spectrum";0
"Rare autonomic nervous system disorder";0
"Double outlet right ventricle with subaortic or doubly committed ventricular septal defect";0
"Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy";0
"Cutaneous larva migrans";218
"Rare carcinoma of stomach";0
"Hereditary gastric cancer";44
"Carcinoma of stomach, salivary gland type";0
"Undifferentiated carcinoma of stomach";0
"Rare tumor of small intestine";0
"Mesenchymal tumor of small intestine";0
"Microcephaly-complex motor and sensory axonal neuropathy syndrome";0
"Rare carcinoma of small intestine";0
"Squamous cell carcinoma of the small intestine";0
"Neuroendocrine tumor of the small intestine";0
"Epithelial tumor of the appendix";0
"Rare epithelial tumor of colon";0
"Squamous cell carcinoma of colon";0
"Rare epithelial tumor of rectum";0
"Familial hyperthyroidism due to mutations in TSH receptor";0
"Squamous cell carcinoma of rectum";4
"Epithelial tumor of anal canal";0
"Carcinoma of the anal canal";0
"Adenocarcinoma of the anal canal";23
"Squamous cell carcinoma of the anal canal";0
"Progressive myoclonic epilepsy type 8";0
"Rare epithelial tumor of pancreas";0
"Squamous cell carcinoma of pancreas";0
"Acinar cell carcinoma of pancreas";5
"Mucinous cystadenocarcinoma of pancreas";0
"Intraductal papillary mucinous carcinoma of pancreas";0
"Solid pseudopapillary carcinoma of pancreas";0
"Serous cystadenocarcinoma of pancreas";0
"Osteoclastic giant cell tumor of pancreas";0
"Colobomatous microphthalmia-rhizomelic dysplasia syndrome";0
"Congenital myopathy with myasthenic-like onset";0
"Autosomal recessive limb-girdle muscular dystrophy type 2Y";0
"Qualitative or quantitative defects of Torsin-1A-interacting protein 1";0
"Rare epithelial tumor of liver and intrahepatic biliary tract";0
"Carcinoma of liver and intrahepatic biliary tract";0
"Adenocarcinoma of liver and intrahepatic biliary tract";0
"Undifferentiated carcinoma of liver and intrahepatic biliary tract";0
"Squamous cell carcinoma of liver and intrahepatic biliary tract";0
"Biliary cystadenocarcinoma";110
"Adenocarcinoma of gallbladder and extrahepatic biliary tract";0
"Squamous cell carcinoma of gallbladder and extrahepatic biliary tract";0
"Apolipoprotein A-I deficiency";13
"Inherited digestive cancer-predisposing syndrome";0
"STING-associated vasculopathy with onset in infancy";1
"Rare epithelial tumor of small intestine";0
"PFAPA syndrome";122
"Tietz syndrome";15
"Familial hypoaldosteronism";0
"Severe congenital neutropenia";355
"PHACE syndrome";116
"Autosomal dominant hypocalcemia";76
"Hypochondroplasia";190
"X-linked adrenoleukodystrophy";645
"Ichthyosis-male hypogonadism syndrome";0
"X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome";0
"Combined immunodeficiency due to OX40 deficiency";0
"Hereditary myopathy with lactic acidosis due to ISCU deficiency";0
"Primary immunodeficiency with predisposition to severe viral infection";0
"Serotonin syndrome";639
"Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection";0
"Acute tricyclic antidepressant poisoning";1
"Acute poisoning by drugs with membrane-stabilizing effect";0
"Scapuloperoneal spinal muscular atrophy";15
"Late-onset scapuloperoneal muscular dystrophy with hyaline bodies";0
"X-linked scapuloperoneal muscular dystrophy";0
"Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder";0
"Autosomal recessive spastic paraplegia type 57";0
"Patent urachus";99
"Urachal sinus";54
"Urachal diverticulum";24
"Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis";0
"Progressive encephalopathy with leukodystrophy due to DECR deficiency";0
"Normosmic congenital hypogonadotropic hypogonadism";6
"Lambert-Eaton myasthenic syndrome";646
"Orofaciodigital syndrome type 14";0
"Rare genetic autonomic nervous system disorder";0
"Syndrome with woolly hair";0
"Ito hypomelanosis";4
"Familial ossifying fibroma";0
"Fetal lower urinary tract obstruction";22
"Anterior urethral valve";23
"Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation";0
"Progressive myoclonic epilepsy type 7";0
"Genetic precocious puberty";0
"Precocious puberty in female";0
"Genetic precocious puberty in female";0
"Genetic otorhinolaryngological malformation";0
"Genetic nose and cavum anomaly";0
"Genetic larynx anomaly";0
"Genetic tracheal anomaly";0
"Adactyly of foot";0
"Keppen-Lubinsky syndrome";0
"3p25.3 microdeletion syndrome";0
"CIDEC-related familial partial lipodystrophy";0
"LIPE-related familial partial lipodystrophy";0
"Congenital urachal anomaly";0
"Short stature-advanced bone age-early-onset osteoarthritis syndrome";0
"Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation";0
"Lethal neonatal spasticity-epileptic encephalopathy syndrome";0
"Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome";0
"COG2-CDG";0
"X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome";0
"Progeroid features-hepatocellular carcinoma predisposition syndrome";0
"Chronic atrial and intestinal dysrhythmia syndrome";0
"Autosomal recessive intermediate Charcot-Marie-Tooth disease type D";0
"Hypophosphatasia";525
"Contractures-developmental delay-Pierre Robin syndrome";0
"Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome";0
"Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome";0
"Intellectual disability-expressive aphasia-facial dysmorphism syndrome";0
"Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency";0
"Periodic fever-infantile enterocolitis-autoinflammatory syndrome";0
"Thrombomodulin-related bleeding disorder";0
"Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome";0
"Microcephalic primordial dwarfism-insulin resistance syndrome";0
"Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease";0
"Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome";0
"Combined immunodeficiency-enteropathy spectrum";0
"Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy";0
"Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa";0
"Hypophosphatemic rickets";744
"Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity";0
"MYH7-related late-onset scapuloperoneal muscular dystrophy";0
"Disorder of keton body transport";0
"Ketoacidosis due to monocarboxylate transporter-1 deficiency";0
"RARS-related autosomal recessive hypomyelinating leukodystrophy";0
"Steel syndrome";5
"PCNA-related progressive neurodegenerative photosensitivy syndrome";0
"STAT3-related early-onset multisystem autoimmune disease";0
"Severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency";0
"Severe autosomal recessive macrothrombocytopenia";0
"PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome";0
"PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation";0
"Progressive encephalomyelitis with rigidity and myoclonus";32
"GCGR-related hyperglucagonemia";0
"Human infection by orthopoxvirus";0
"Isolated right ventricular hypoplasia";13
"Placental insufficiency";1475
"Pediatric arterial ischemic stroke";35
"Zinc-responsive necrolytic acral erythema";0
"Non-recovering obstetric brachial plexus lesion";0
"Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome";0
"KCNQ2-related epileptic encephalopathy";0
"ALECT2 amyloidosis";3
"AApoAIV amyloidosis";0
"ABeta2M amyloidosis";10
"ITM2B amyloidosis";0
"Cutaneous polyarteritis nodosa";149
"Primary polyarteritis nodosa";0
"Secondary polyarteritis nodosa";0
"Single-organ polyarteritis nodosa";0
"Systemic polyarteritis nodosa";45
"PDE4D haploinsufficiency syndrome";0
"Autosomal recessive severe congenital neutropenia";6
"Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease";0
"Plastic bronchitis";146
"Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome";0
"Neonatal adrenoleukodystrophy";187
"Familial hypospadias";8
"Congenital oculomotor nerve palsy";9
"Congenital abducens nerve palsy";2
"Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome";0
"Necrotizing soft tissue infection";164
"Interstitial lung disease due to SP-C deficiency";0
"Interstitial lung disease due to ABCA3 deficiency";0
"Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency";0
"Familial colorectal cancer Type X";30
"Disorders of pentose/polyol metabolism";0
"Ribose-5-P isomerase deficiency";0
"Isolated sedoheptulokinase deficiency";0
"Extensive peripapillary myelinated nerve fibers";4
"Combined hamartoma of the retina and retinal pigment epithelium";43
"L-ferritin deficiency";0
"Isolated agenesis of gallbladder";0
"Pure autonomic failure";298
"Syndromic hereditary optic neuropathy";0
"Early-onset posterior subcapsular cataract";0
"Early-onset lamellar cataract";0
"Congenital hypothyroidism";2621
"AH amyloidosis";10
"Undetermined early-onset epileptic encephalopathy";0
"Sporadic porphyria cutanea tarda";43
"Familial porphyria cutanea tarda";58
"Hemicrania continua";271
"Charcot-Marie-Tooth disease type 2S";0
"Central serous chorioretinopathy";1078
"Baroreflex failure";81
"46,XY disorder of sex development due to testicular 17,20-desmolase deficiency";0
"46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect";0
"Hyperinsulinemic hypoglycaemia";20
"Hyperostosis cranialis interna";8
"Hypothalamic adipsic hypernatraemia syndrome";0
"Lymphoplasmacytic lymphoma without IgM production";0
"NDE1-related microhydranencephaly";0
"NUT midline carcinoma";76
"Postpartum psychosis";169
"Spontaneous intracranial hypotension";495
"Classic stiff person syndrome";2
"X-linked erythropoietic protoporphyria";0
"Paratyphoid fever";486
"Orthostatic intolerance due to NET deficiency";0
"ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor";0
"HIV-associated cancer";13
"Focal stiff limb syndrome";0
"PGM3-CDG";1
"Hereditary nonpolyposis colon cancer";197
"Charcot-Marie-Tooth disease type 2T";0
"Ventriculomegaly-cystic kidney disease";0
"Mandibulofacial dysostosis with alopecia";0
"Marie Unna hereditary hypotrichosis";19
"11q22.2q22.3 microdeletion syndrome";0
"Combined oxidative phosphorylation defect type 23";0
"46,XX ovarian dysgenesis-short stature syndrome";0
"20q11.2 microdeletion syndrome";0
"Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome";0
"Cerebellar-facial-dental syndrome";0
"Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome";0
"Autoimmune interstitial lung disease-arthritis syndrome";0
"Autosomal dominant spastic paraplegia type 73";0
"Hereditary amyloidosis";187
"Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome";0
"Idiopathic phalangeal acro-osteolysis";0
"Combined oxidative phosphorylation defect type 24";0
"Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome";0
"Familial chylomicronemia syndrome";29
"Pseudohypoaldosteronism";484
"Caudal regression-sirenomelia spectrum";0
"Combined immunodeficiency due to LRBA deficiency";0
"3-methylglutaconic aciduria type 7";0
"Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome";0
"Limb-girdle muscular dystrophy due to POMK deficiency";0
"Secondary vasculitis";79
"Neonatal hemochromatosis";122
"Paroxysmal nocturnal hemoglobinuria";1339
"NIK deficiency";0
"DOCK2 deficiency";4
"Susceptibility to localized juvenile periodontitis";0
"Autosomal dominant complex spastic paraplegia type 9A";0
"Autosomal dominant complex spastic paraplegia type 9B";0
"Autosomal recessive complex spastic paraplegia type 9B";0
"IgG4-related sclerosing cholangitis";82
"Sclerosing cholangitis";4273
"Secondary sclerosing cholangitis";114
"Keratocystic odontogenic tumor";187
"Mitochondrial pyruvate carrier deficiency";0
"Cerebral visual impairment";99
"Hemochromatosis type 5";0
"Lipoyl transferase 2 deficiency";0
"Biological anomaly without phenotypic characterization";0
"Polymerase proofreading-related adenomatous polyposis";0
"Idiopathic dropped head syndrome";0
"Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome";0
"Tremor-ataxia-central hypomyelination syndrome";0
"Combined oxidative phosphorylation defect type 25";0
"Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome";0
"Autosomal dominant Charcot-Marie-Tooth disease type 2V";0
"Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome";0
"Progressive scapulohumeroperoneal distal myopathy";0
"19p13.3 microduplication syndrome";0
"Partial duplication of the short arm of chromosome 19";0
"Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome";0
"Hemophilia";13071
"CAD-CDG";0
"Zika virus disease";80
"Autosomal recessive brachyolmia";1
"Progressive autosomal recessive ataxia-deafness syndrome";0
"Isolated focal non-epidermolytic palmoplantar keratoderma";0
"Regressive spondylometaphyseal dysplasia";0
"Ectopia cordis";172
"X-linked acrogigantism due to a point mutation";0
"X-linked acrogigantism due to Xq26 microduplication";0
"Genetic primary orthostatic hypotension";0
"Gastrointestinal stromal tumor";2352
"Hepatoblastoma";2625
"Pleural empyema";2075
"Scedosporiosis";63
"Snakebite envenomation";33
"Symptomatic form of fragile X syndrome in female carrier";0
"Susceptibility to infection in immunocompromised patient";0
"IgG4-related kidney disease";38
"IgG4-related aortitis";6
"IgG4-related pachymeningitis";9
"IgG4-related submandibular gland disease";0
"IgG4-related ophthalmic disease";22
"Eosinophilic angiocentric fibrosis";45
"Adenosine monophosphate deaminase deficiency";4
"Heterotaxia";128
"Polyclonal hyperviscosity syndrome";2
"Primary cutaneous plasmacytosis";6
"Cutaneous pseudolymphoma";59
"Familial congenital nasolacrimal duct obstruction";0
"X-linked lissencephaly with abnormal genitalia";0
"IBIDS syndrome";3
"Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome";0
"Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation";0
"Congenital insensitivity to pain with severe intellectual disability";0
"Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency";0
"Polyendocrine-polyneuropathy syndrome";0
"Congenital fibrosis of extraocular muscles";32
"Acquired ichthyosis";112
"Miyoshi myopathy";165
"Idiopathic neonatal atrial flutter";0
"Incessant infant ventricular tachycardia";0
"Acquired Creutzfeldt-Jakob disease";5
"Progressive muscular atrophy";220
"Anti-p200 pemphigoid";35
"Plasma cell leukemia";696
"Holmes-Adie syndrome";34
"Endometrioid carcinoma of ovary";0
"Variably protease-sensitive prionopathy";16
"Kuru";755
"Isolated tracheo-esophageal fistula";0
"Pleomorphic salivary gland adenoma";8
"Acute radiation syndrome";235
"Avian influenza";3418
"NTHL1-related attenuated familial adenomatous polyposis";0
"Corticobasal syndrome";283
"Superficial epidermolytic ichthyosis";6
"1p35.2 microdeletion syndrome";0
"Infantile multisystem neurologic-endocrine-pancreatic disease";0
"Hereditary sensory neuropathy-deafness-dementia syndrome";0
"X-linked myotubular myopathy-abnormal genitalia syndrome";0
"Hereditary neuroendocrine tumor of small intestine";0
"Polyglucosan body myopathy type 2";0
"Harlequin ichthyosis";130
"Autosomal dominant mitochondrial myopathy with exercise intolerance";0
"Pseudohypoparathyroidism with Albright hereditary osteodystrophy";0
"Pseudohypoparathyroidism without Albright hereditary osteodystrophy";0
"Congenital nemaline myopathy";52
"TAFRO syndrome";26
"Isolated splenogonadal fusion";0
"Predisposition to invasive fungal disease due to CARD9 deficiency";0
"Actinomycosis";1994
"Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome";0
"Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome";0
"Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome";0
"Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome";0
"Syndromic sensorineural deafness due to combined oxidative phosphorylation defect";0
"X-linked intellectual disability-short stature-overweight syndrome";0
"Clear cell sarcoma of kidney";31
"Squamous cell carcinoma of the oral tongue";0
"X-linked intellectual disability-hypotonia-movement disorder syndrome";0
"Progressive myoclonic epilepsy type 9";0
"Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome";0
"Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome";0
"Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome";0
"Megalencephaly-severe kyphoscoliosis-overgrowth syndrome";0
"Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome";0
"ITPA-related encephalopathy";0
"Complex lethal osteochondrodysplasia";0
"Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome";0
"Fatal mutiple mitochondrial dysfunctions syndrome type 4";0
"Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome";0
"Idiopathic spontaneous coronary artery dissection";7
"Composite hemangioendothelioma";19
"Retiform hemangioendothelioma";41
"Primary intralymphatic angioendothelioma";0
"Congenital hemangioma";102
"Partially involuting congenital hemangioma";2
"Mixed cystic lymphatic malformation";0
"Spinocerebellar ataxia type 41";0
"Spinocerebellar ataxia type 42";0
"Vascular tumor with associated anomalies";0
"Rare capillary malformation with associated anomalies";0
"Common cystic lymphatic malformation";0
"Rare combined vascular malformation";0
"Primary lymphedema with associated anomalies";0
"Rare vascular malformation of major vessels";0
"Ataxia-oculomotor apraxia type 4";0
"Spondyloepiphyseal dysplasia, Stanescu type";0
"Autosomal recessive spastic paraplegia type 75";0
"Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome";0
"X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome";0
"Corpus callosum agenesis-macrocephaly-hypertelorism syndrome";0
"Immunodeficiency due to a complement cascade component deficiency";0
"Immunodeficiency due to a complement regulatory deficiency";0
"C1 inhibitor deficiency";297
"Rare genetic capillary malformation";0
"Genetic primary lymphedema";0
"Genetic complex vascular malformation with associated anomalies";0
"Rare genetic vascular tumor";0
"Rare genetic venous malformation";0
"Lethal multiple congenital anomalies/dysmorphic syndrome";0
"Adenylosuccinate lyase deficiency";54
"Lathosterolosis";17
"Recessive X-linked ichthyosis";72
"Primary central nervous system lymphoma";1058
"Paroxysmal extreme pain disorder";54
"Incontinentia pigmenti";555
"Spastic paraplegia-severe developmental delay-epilepsy syndrome";0
"Short stature-brachydactyly-obesity-global developmental delay syndrome";0
"DYRK1A-related intellectual disability syndrome";0
"Intellectual disability syndrome due to a DYRK1A point mutation";0
"Verrucous hemangioma";32
"Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome";0
"Kaposiform lymphangiomatosis";10
"BENTA disease";0
"Catastrophic antiphospholipid syndrome";275
"Benign metanephric tumour";0
"NEK9-related lethal skeletal dysplasia";0
"Neonatal alloimmune neutropenia";29
"Primary dystonia, DYT27 type";0
"COG6-CGD";0
"Acquired methemoglobinemia";46
"Paracetamol poisoning";219
"Fever-associated acute infantile liver failure syndrome";0
"Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome";0
"Familial gastric type 1 neuroendocrine tumor";0
"Familial cavitary optic disc anomaly";0
"Immune-mediated acquired neuromuscular junction disease";0
"Oligodendroglial tumor";55
"Superficial pemphigus";25
"Mucous membrane pemphigoid";377
"Acquired epidermolysis bullosa";23
"Linear IgA dermatosis";92
"Congenital plasminogen activator inhibitor type 1 deficiency";0
"Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome";0
"Symptomatic form of hemochromatosis type 1";0
"Fetal encasement syndrome";0
"Fatal familial insomnia";328
"Class I glucose-6-phosphate dehydrogenase deficiency";0
"Genetic hemoglobinopathy";6
"Genetic otorhinolaryngologic disease";0
"Char syndrome";19
"Primordial short stature-microdontia-opalescent and rootless teeth syndrome";0
"Exercise-induced malignant hyperthermia";3
"Rare disease with malignant hyperthermia";0
"Cyanide poisoning";254
"Scorpion envenomation";169
"Euthyroid Graves orbitopathy";0
"Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome";0
"Supratip dysplasia";0
"TMEM199-CDG";0
"Martinique crinkled retinal pigment epitheliopathy";0
"Autosomal recessive spastic paraplegia type 77";0
"Familial patent arterial duct";0
"Autosomal dominant Charcot-Marie-Tooth disease type 2Z";0
"Autosomal recessive Charcot Marie Tooth disease type 2X";0
"Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect";0
"Macrocephaly-intellectual disability-left ventricular non compaction syndrome";0
"Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome";0
"Autosomal recessive limb-girdle muscular dystrophy type 2W";0
"Autosomal dominant thrombocytopenia with platelet secretion defect";0
"Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome";0
"Seizures-scoliosis-macrocephaly syndrome";0
"VPS11-related autosomal recessive hypomyelinating leukodystrophy";0
"WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome";0
"Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation";0
"SMARCA4-deficient sarcoma of thorax";0
"Non-acquired combined pituitary hormone deficiency";0
"Tubulinopathy-associated dysgyria";0
"Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome";0
"Cerebral arteriovenous malformation";487
"Intellectual disability-epilepsy-extrapyramidal syndrome";0
"Microcephalic primordial dwarfism due to RTTN deficiency";0
"Cryptogenic multifocal ulcerous stenosing enteritis";10
"Chronic enteropathy associated with SLCO2A1 gene";0
"Autosomal recessive spastic paraplegia type 74";0
"Isolated generalized anhidrosis with normal sweat glands";0
"Colobomatous macrophthalmia-microcornea syndrome";0
"Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome";0
"CCDC115-CDG";0
"SLC39A8-CDG";0
"Rhizomelic chondrodysplasia punctata type 5";0
"Severe primary trimethylaminuria";0
"Hereditary fructose intolerance";174
"X-linked agammaglobulinemia";591
"Lysinuric protein intolerance";162
"Hereditary papillary renal cell carcinoma";20
"Familial cold urticaria";42
"Genetic lethal multiple congenital anomalies/dysmorphic syndrome";0
"Proximal renal tubular acidosis";121
"Isosporiasis";139
"Jeune syndrome";104
"Congenital anomaly of ventricular septum";0
"Joubert syndrome";450
"Autosomal recessive limb-girdle muscular dystrophy type 2X";0
"Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome";0
"Erythrokeratodermia-cardiomyopathy syndrome";0
"Hereditary pediatric Behçet-like disease";0
"Axonal hereditary motor and sensory neuropathy";0
"TFRC-related combined immunodeficiency";0
"Demyelinating hereditary motor and sensory neuropathy";0
"Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome";0
"Felty syndrome";326
"Intermediate Charcot-Marie-Tooth disease";9
"Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome";0
"PMP2-related Charcot-Marie-Tooth disease type 1";0
"Hypercontractile muscle stiffness syndrome";0
"Congenital generalized hypercontractile muscle stiffness syndrome";0
"KID syndrome";117
"Type 1 interferonopathy";0
"Fibroblastic rheumatism";25
"IL21-related infantile inflammatory bowel disease";0
"Aymé-Gripp syndrome";1
"Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome";0
"Combined oxidative phosphorylation defect type 26";0
"Pediatric multiple sclerosis";197
"Nodular fasciitis";457
"Pontine autosomal dominant microangiopathy with leukoencephalopathy";0
"Genetic cerebral small vessel disease";0
"COL4A1 or COL4A2-related cerebral small vessel disease";0
"COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy";0
"COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy";0
"Moyomoya angiopathy";0
"Moyamoya syndrome";283
"Combined oxidative phosphorylation defect type 27";0
"Primary condylar hyperplasia";0
"Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder";0
"Syndromic constitutional thrombocytopenia";0
"Isolated constitutional thrombocytopenia";0
"Genetic cardiac malformation";0
"Other genetic dermis disorder";0
"Rare hypercholesterolemia";0
"Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome";0
"PMP22-RAI1 contiguous gene duplication syndrome";0
"Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome";0
"Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency";0
"Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome";0
"Kallmann syndrome";586
"Combined oxidative phosphorylation defect type 29";0
"Combined oxidative phosphorylation defect type 30";0
"Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome";0
"Congenital insensitivity to pain-hypohidrosis syndrome";0
"Congenital bilateral absence of vas deferens";63
"Kearns-Sayre syndrome";624
"Progressive familial intrahepatic cholestasis type 5";0
"Progressive familial intrahepatic cholestasis type 4";0
"MYO5B-related progressive familial intrahepatic cholestasis";0
"Choledochal cyst";1491
"Primary intrahepatic lithiasis";13
"Idiopathic ductopenia";6
"Caroli syndrome";39
"Idiopathic peliosis hepatis";0
"Lethal hydranencephaly-diaphragmatic hernia syndrome";0
"Congenital portosystemic shunt";40
"MSH3-related attenuated familial adenomatous polyposis";0
"High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement";0
"Non-severe combined immunodeficiency";0
"Aneurysmal bone cyst";1102
"Isolated neonatal sclerosing cholangitis";0
"Autosomal recessive limb-girdle muscular dystrophy type 2Z";0
"Facial diplegia with paresthesias";0
"Fibular aplasia-tibial campomelia-oligosyndactyly syndrome";0
"Hereditary thrombocytopenia with early-onset myelofibrosis";0
"Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome";0
"X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability";0
"Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome";0
"X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome";0
"Kennedy disease";90
"Pyoderma gangrenosum";1620
"PYCR2-related microcephaly-progressive leukoencephalopathy";0
"Gastroenteric neuroendocrine tumor";0
"Lewis-Sumner syndrome";43
"Familial Chilblain lupus";27
"UPS18 deficiency";0
"Type 1 interferonopathy of childhood";0
"Genetic alopecia";0
"Familial schizencephaly";6
"Kimura disease";111
"HTRA1-related cerebral small vessel disease";0
"HTRA1-related autosomal dominant cerebral small vessel disease";0
"Rare idiopathic macular telangiectasia";0
"Adenylosuccinate synthetase-like 1-related distal myopathy";0
"X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome";0
"Congenital high-molecular-weight kininogen deficiency";0
"Nodular regenerative hyperplasia of the liver";0
"Subcorneal pustular dermatosis";134
"Congenital cataracts-facial dysmorphism-neuropathy syndrome";11
"Postinfectious vasculitis";0
"Lissencephaly";930
"Kniest dysplasia";61
"Acquired schizencephaly";0
"CLCN4-related X-linked intellectual disability syndrome";0
"Propylthiouracil embryofetopathy";0
"Genetic non-acquired premature ovarian failure";0
"16p12.1p12.3 triplication syndrome";0
"EMILIN-1-related connective tissue disease";0
"Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome";0
"Isolated congenital hepatic fibrosis";0
"Congenital bile acid synthesis defect";0
"Autosomal dominant severe congenital neutropenia";0
"Monosomy 22q13";6
"Prenatal-onset spinal muscular atrophy with congenital bone fractures";0
"Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome";0
"Primary effusion lymphoma";905
"Rare pediatric rheumatologic disease";0
"Krabbe disease";304
"Embryonal carcinoma of the central nervous system";0
"Urachal cyst";301
"Aceruloplasminemia";120
"Focal myositis";121
"Penile agenesis";48
"Omphalomesenteric cyst";5
"IgG4-related retroperitoneal fibrosis";24
"Dentinogenesis imperfecta";351
"Proliferating trichilemmal cyst";38
"Familial keratoacanthoma";2
"Achromatopsia";319
"Keratoderma hereditarium mutilans";5
"Transgrediens et progrediens palmoplantar keratoderma";3
"Acquired purpura fulminans";3
"Thost-Unna palmoplantar keratoderma";0
"Keratosis pilaris atrophicans";28
"Lichen amyloidosis";80
"Thiamine-responsive megaloblastic anemia syndrome";34
"Kerion celsi";48
"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency";68
"Aicardi syndrome";182
"Noonan syndrome with multiple lentigines";20
"Lafora disease";260
"Langer-Giedion syndrome";147
"Pleural mesothelioma";3122
"Autosomal dominant Larsen syndrome";4
"Creeping myiasis";3
"Graham Little-Piccardi-Lassueur syndrome";11
"Leigh syndrome";602
"Leishmaniasis";10225
"Leprechaunism";165
"Talo-patello-scaphoid osteolysis";0
"Microlissencephaly-micromelia syndrome";0
"Lipodystrophy-intellectual disability-deafness syndrome";0
"Zellweger-like syndrome without peroxisomal anomalies";0
"Craniolenticulosutural dysplasia";2
"Branchiogenic deafness syndrome";1
"Spondylometaphyseal dysplasia with combined immunodeficiency";0
"Duane anomaly-myopathy-scoliosis syndrome";0
"Cat-scratch disease";1040
"Leptospirosis";2727
"Kikuchi-Fujimoto disease";255
"Multiple fibroadenoma of the breast";0
"Striate palmoplantar keratoderma";28
"Keratolytic winter erythema";12
"Schöpf-Schulz-Passarge syndrome";16
"Blomstrand lethal chondrodysplasia";0
"Aicardi-Goutières syndrome";245
"Lesch-Nyhan syndrome";690
"Familial short QT syndrome";3
"Torsade-de-pointes syndrome with short coupling interval";0
"Maple syrup urine disease";647
"Ethylmalonic encephalopathy";40
"Metachromatic leukodystrophy";919
"Formiminoglutamic aciduria";4
"Acute lymphoblastic leukemia";17364
"Acute monoblastic leukemia";221
"Cobblestone lissencephaly";54
"Generalized arterial calcification of infancy";43
"WHIM syndrome";80
"Acute myelomonocytic leukemia";551
"Acute megakaryoblastic leukemia";369
"Anterior cutaneous nerve entrapment syndrome";17
"Acute myeloid leukemia";17894
"Alagille syndrome";558
"Acute promyelocytic leukemia";4226
"Potocki-Shaffer syndrome";14
"Braddock syndrome";0
"Craniosynostosis-intracranial calcifications syndrome";0
"Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome";0
"Ulnar/fibula ray defect-brachydactyly syndrome";0
"Chronic myeloid leukemia";7993
"Premature chromosome condensation with microcephaly and intellectual disability";0
"Hereditary leiomyomatosis and renal cell cancer";145
"Mohr-Tranebjaerg syndrome";34
"Li-Fraumeni syndrome";829
"Mantle cell lymphoma";3183
"MALT lymphoma";2152
"Retinitis punctata albescens";40
"Congenital muscular dystrophy type 1C";12
"Branchiootic syndrome";8
"Inclusion body myopathy with Paget disease of bone and frontotemporal dementia";0
"Lichen planopilaris";189
"X-linked creatine transporter deficiency";10
"Pseudo-von Willebrand disease";12
"Liddle syndrome";113
"Rare teratologic disease";0
"Myelodysplastic syndrome";7306
"Vasculitis";23601
"Berardinelli-Seip congenital lipodystrophy";74
"Roch-Leri mesosomatous lipomatosis";0
"Isolated follicle stimulating hormone deficiency";4
"Orbital leiomyoma";10
"Albers-Schönberg osteopetrosis";4
"Lipoid proteinosis";242
"Caroli disease";281
"Miller-Dieker syndrome";161
"Muenke syndrome";56
"Familial cutaneous collagenoma";10
"Listeriosis";2513
"Brody myopathy";6
"X-linked dystonia-parkinsonism";54
"Hereditary geniospasm";3
"Oculocerebrorenal syndrome of Lowe";69
"Rare cutaneous lupus erythematosus";0
"Goldmann-Favre syndrome";20
"Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity";0
"Congenital chloride diarrhea";76
"Congenital lactase deficiency";25
"Congenital cornea plana";0
"GRACILE syndrome";18
"Lethal arthrogryposis-anterior horn cell disease syndrome";0
"Gnathodiaphyseal dysplasia";15
"Hyaline body myopathy";17
"Lyell syndrome";84
"Familial tumoral calcinosis";64
"Wyburn-Mason syndrome";49
"Cobb syndrome";29
"Distal hereditary motor neuropathy";109
"Lymphangioleiomyomatosis";1069
"X-linked recessive ocular albinism";0
"Familial hemophagocytic lymphohistiocytosis";279
"Plummer-Vinson syndrome";81
"Thrombotic thrombocytopenic purpura";3032
"Primary cutaneous CD30+ T-cell lymphoproliferative disease";0
"Primary cutaneous lymphoma";119
"Myotonic dystrophy type 3";0
"Posterior cortical atrophy";247
"Corticosteroid-sensitive aseptic abscess syndrome";0
"Left ventricular noncompaction";378
"Hepatocellular adenoma";474
"Burkitt lymphoma";7356
"Sarcocystosis";114
"Primary membranoproliferative glomerulonephritis";15
"Diffuse large B-cell lymphoma";6884
"Follicular lymphoma";5235
"Craniopharyngioma";3010
"Non-Hodgkin lymphoma";23418
"Leprosy";9682
"Legionellosis";1107
"Oculocutaneous albinism";817
"MELAS";1450
"MERRF";503
"MODY";1650
"Cushing syndrome";5898
"Autosomal dominant limb-girdle muscular dystrophy type 1F";0
"Autosomal dominant limb-girdle muscular dystrophy type 1G";0
"Malakoplakia";333
"Hypotrichosis simplex";30
"Pneumococcal meningitis";1871
"Isolated anorectal malformation";4
"Marfan syndrome";3735
"Chondrosarcoma";5340
"Adamantinoma";255
"Marinesco-Sjögren syndrome";84
"Alkaptonuria";358
"Marshall syndrome";31
"Carcinoma of gallbladder and extrahepatic biliary tract";0
"Marshall-Smith syndrome";42
"McCune-Albright syndrome";545
"Peripartum cardiomyopathy";626
"Atelosteogenesis type II";18
"Atelosteogenesis type III";5
"Meckel syndrome";201
"Cold agglutinin disease";222
"Menkes disease";481
"Congenital microcoria";11
"22q11.2 deletion syndrome";599
"Microphthalmia, Lenz type";0
"Familial or sporadic hemiplegic migraine";0
"Progressive bulbar paralysis of childhood";0
"Human prion disease";220
"Glycogen storage disease due to aldolase A deficiency";0
"Moebius syndrome";161
"SUNCT syndrome";174
"Rare hepatic disease";2
"Aseptic osteitis";12
"Medial condensing osteitis of the clavicle";0
"Immunodeficiency by defective expression of HLA class 2";0
"Monilethrix";95
"Monosomy 21";127
"Muckle-Wells syndrome";186
"Mucolipidosis type II";55
"Mucolipidosis type III";32
"Cirrhotic cardiomyopathy";132
"Mazabraud syndrome";13
"Mucolipidosis type IV";114
"Mucopolysaccharidosis type 1";16
"Alexander disease";220
"Mucopolysaccharidosis type 2";1
"Hairy cell leukemia";2823
"Osteoblastoma";741
"Mucopolysaccharidosis type 3";0
"Mucopolysaccharidosis type 4";0
"Mucopolysaccharidosis type 6";2
"Mucopolysaccharidosis type 7";0
"Multiple sulfatase deficiency";93
"Cystic fibrosis";28841
"Muir-Torre syndrome";286
"Muscle-eye-brain disease";126
"Myasthenia gravis";8225
"Allan-Herndon-Dudley syndrome";56
"Congenital myasthenic syndrome";243
"Furuncular myiasis";59
"Laing early-onset distal myopathy";7
"Sorsby's fundus dystrophy";53
"Macrophagic myofasciitis";77
"Schilder disease";8
"Myofibrillar myopathy";155
"Neonatal ichthyosis-sclerosing cholangitis syndrome";1
"Gestational trophoblastic neoplasm";50
"McLeod neuroacanthocytosis syndrome";12
"Rhombencephalosynapsis";93
"Centronuclear myopathy";239
"X-linked centronuclear myopathy";17
"Central core disease";303
"Multiminicore myopathy";4
"Distal myopathy";411
"3-methylcrotonyl-CoA carboxylase deficiency";51
"Alpha-1-antitrypsin deficiency";2447
"Distal myopathy with vocal cord weakness";0
"Argyria";166
"Enlarged parietal foramina";29
"Pulmonary alveolar microlithiasis";162
"Pulmonary nodular lymphoid hyperplasia";8
"Loeys-Dietz syndrome";269
"Recurrent respiratory papillomatosis";562
"Idiopathic bronchiectasis";62
"Pudendal neuralgia";90
"Megalencephaly-capillary malformation-polymicrogyria syndrome";1
"Congenital heart block";607
"GNE myopathy";44
"Distal myopathy, Welander type";0
"Proximal myotonic myopathy";73
"Nemaline myopathy";436
"Tibial muscular dystrophy";29
"Alpha-mannosidosis";165
"Bethlem myopathy";115
"Inclusion body myositis";1312
"Potassium-aggravated myotonia";28
"Thomsen and Becker disease";0
"Familial atrial myxoma";5
"Medulloblastoma";5845
"Congenital primary megaureter";0
"Familial melanoma";290
"Autosomal recessive limb-girdle muscular dystrophy type 2D";0
"Common mesentery";29
"Hereditary methemoglobinemia";38
"Homocystinuria without methylmalonic aciduria";0
"NAME syndrome";10
"Familial multiple nevi flammei";0
"Large congenital melanocytic nevus";22
"Nance-Horan syndrome";44
"Diastrophic dwarfism";21
"Short stature due to growth hormone qualitative anomaly";0
"Alport syndrome";724
"Non-acquired isolated growth hormone deficiency";0
"Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia";0
"Iniencephaly";76
"Craniorachischisis";73
"HERNS syndrome";0
"Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis";0
"Distal myopathy with posterior leg and anterior hand involvement";0
"Pemphigoid gestationis";335
"Laron syndrome";268
"Netherton syndrome";176
"Isolated oxycephaly";0
"Angel-shaped phalango-epiphyseal dysplasia";4
"Rare epithelial tumor of stomach";0
"Acrocapitofemoral dysplasia";2
"Patterned dystrophy of the retinal pigment epithelium";0
"Paraneoplastic pemphigus";381
"Neuroblastoma";24111
"Neurofibromatosis type 1";3109
"Neurofibromatosis type 2";965
"Neurofibromatosis-Noonan syndrome";34
"Schisis association";11
"Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG";0
"IgG4-related mediastinitis";0
"Alström syndrome";171
"Hereditary neuropathy with liability to pressure palsies";320
"Multifocal motor neuropathy";567
"Hereditary sensory and autonomic neuropathy type 4";0
"Childhood absence epilepsy";370
"Giant axonal neuropathy";146
"NARP syndrome";25
"Acrofacial dysostosis, Kennedy-Teebi type";0
"Benign idiopathic neonatal seizures";3
"Niemann-Pick disease type C";572
"Tolosa-Hunt syndrome";297
"Oroya fever";29
"Trench fever";188
"Nijmegen breakage syndrome";466
"Leiomyosarcoma";6652
"Granulomatous mastitis";242
"Iridocorneal endothelial syndrome";143
"Ovarian hyperstimulation syndrome";2283
"Recurrent acute pancreatitis";312
"Pulmonary blastoma";432
"Pleuropulmonary blastoma";244
"Hepatoportal sclerosis";57
"IgG4-related thyroid disease";4
"Pruritic urticarial papules and plaques of pregnancy";55
"Autosomal dominant Charcot-Marie-Tooth disease type 2";8
"X-linked Charcot-Marie-Tooth disease";117
"Dejerine-Sottas syndrome";55
"Charcot-Marie-Tooth disease type 4";3
"Hereditary motor and sensory neuropathy type 5";0
"Hereditary sensory and autonomic neuropathy type 5";0
"Spinocerebellar ataxia with axonal neuropathy type 2";0
"Nevus comedonicus syndrome";14
"Becker nevus syndrome";21
"Noonan syndrome";1243
"Norrie disease";183
"Leber congenital amaurosis";558
"LCAT deficiency";236
"Multiple endocrine neoplasia type 1";1811
"Perineural cyst";34
"Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome";0
"Timothy syndrome";75
"Biotin-responsive basal ganglia disease";16
"Lhermitte-Duclos disease";182
"3q29 microdeletion syndrome";14
"Beta-ureidopropionase deficiency";17
"Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome";0
"Multiple endocrine neoplasia type 2";549
"Nephroblastoma";1313
"Nephronophthisis";472
"Familial idiopathic steroid-resistant nephrotic syndrome";0
"Vaginal atresia";171
"Benign recurrent intrahepatic cholestasis";123
"Isolated focal cortical dysplasia";5
"Monomelic amyotrophy";62
"Congenital isolated hyperinsulinism";0
"Arthrogryposis-severe scoliosis syndrome";0
"Autosomal dominant multiple pterygium syndrome";0
"Multiple self-healing squamous epithelioma";16
"Charcot-Marie-Tooth disease type 1";79
"Carpenter syndrome";50
"Goodman syndrome";0
"Non-histaminic angioedema";0
"Mutilating palmoplantar keratoderma with periorificial keratotic plaques";0
"Omphalocele";1217
"Ondine syndrome";7
"Yellow nail syndrome";166
"Maternally-inherited progressive external ophthalmoplegia";0
"Ornithine transcarbamylase deficiency";392
"Albright hereditary osteodystrophy";161
"Short fifth metacarpals-insulin resistance syndrome";0
"Tako-Tsubo cardiomyopathy";279
"Osteogenesis imperfecta";2747
"PANDAS";190
"Cerebrooculonasal syndrome";0
"Pigmented villonodular synovitis";899
"Obesity due to congenital leptin deficiency";0
"Goldberg-Shprintzen megacolon syndrome";3
"Congenital pseudoarthrosis of clavicle";0
"CEDNIK syndrome";4
"Sensorineural hearing loss-early graying-essential tremor syndrome";0
"Dilated cardiomyopathy with ataxia";0
"Diaphanospondylodysostosis";8
"Cutaneous mastocytosis";347
"Mast cell sarcoma";258
"Extracutaneous mastocytoma";5
"Autosomal recessive malignant osteopetrosis";7
"Osteosarcoma";16504
"Otopalatodigital syndrome";27
"Amoebiasis due to Entamoeba histolytica";3
"PIBIDS syndrome";5
"Autosomal dominant optic atrophy and cataract";0
"Squamous cell carcinoma of head and neck";198
"B-cell chronic lymphocytic leukemia";1793
"Segmental odontomaxillary dysplasia";17
"Hyaluronidase deficiency";4
"Late-onset retinal degeneration";24
"Acanthamoeba keratitis";843
"Thrombocytopenia with congenital dyserythropoietic anemia";0
"X-linked intellectual disability with isolated growth hormone deficiency";0
"3-methylglutaconic aciduria type 1";1
"3-methylglutaconic aciduria type 3";3
"3-methylglutaconic aciduria type 4";1
"Primary cutis verticis gyrata";7
"Pallister-Hall syndrome";98
"Malaria";41958
"Accessory pancreas";11
"Annular pancreas";289
"Hereditary chronic pancreatitis";33
"Pancreatoblastoma";185
"Papillon-Lefèvre syndrome";266
"Malignant atrophic papulosis";113
"Amoebiasis due to free-living amoebae";0
"Normokalemic periodic paralysis";19
"Hypokalemic periodic paralysis";503
"Hyperkalemic periodic paralysis";187
"Progressive supranuclear palsy";2856
"Rare maxillo-facial surgical disease";0
"Rare hemorrhagic disorder due to a constitutional coagulation factors defect";0
"Chromosomal anomaly";431
"Rare genetic tumor";0
"Multiple congenital anomalies/dysmorphic syndrome";0
"Rare genetic skin disease";6
"Tumor of hematopoietic and lymphoid tissues";0
"Scalp disease";22
"Sleep disorder";2163
"Leukodystrophy";2046
"Rare deafness";0
"Rare vascular disease";37
"Rare dystonia";5
"Hemoglobinopathy";1115
"Lysosomal disease";113
"Rare inborn errors of metabolism";0
"Peroxisomal disease";68
"Congenital limb malformation";17
"Mitochondrial disease";1376
"Neuromuscular disease";2512
"Rare constitutional aplastic anemia";0
"Neurometabolic disease";100
"Paramyotonia congenita of Von Eulenburg";1
"Rare parkinsonian disorder";3
"Rare bone tumor";65
"Rare parathyroid disease and phosphocalcic metabolism anomaly";0
"Rare infectious disease";74
"Vascular anomaly or angioma";0
"Hereditary spastic paraplegia";1102
"Amyloidosis";13292
"Syndrome with brachydactyly";0
"Idiopathic steroid-sensitive nephrotic syndrome";8
"Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization";0
"Familial renal glucosuria";23
"Rhabdoid tumor";1355
"Liposarcoma";4194
"Odonto-tricho-ungual-digito-palmar syndrome";0
"Ectodermal dysplasia with natal teeth, Turnpenny type";0
"Pure hair and nail ectodermal dysplasia";0
"Limb-mammary syndrome";16
"Naegeli-Franceschetti-Jadassohn syndrome";11
"Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome";0
"Anonychia with flexural pigmentation";0
"Pyogenic arthritis-pyoderma gangrenosum-acne syndrome";0
"Low phospholipid associated cholelithiasis";23
"Intrahepatic cholestasis of pregnancy";632
"Tyrosinemia type 3";3
"Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome";0
"Bilateral acute depigmentation of the iris";0
"Bosley-Salih-Alorainy syndrome";4
"Athabaskan brainstem dysgenesis syndrome";0
"Circumscribed palmoplantar hypokeratosis";4
"Warty dyskeratoma";37
"Pearson syndrome";72
"3C syndrome";25
"Proximal spinal muscular atrophy";129
"Alopecia totalis";187
"Alopecia universalis";236
"Pelizaeus-Merzbacher disease";402
"Bullous pemphigoid";2809
"Pemphigus vulgaris";2150
"Hyperlipoproteinemia type 5";0
"Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type";0
"Leigh syndrome with cardiomyopathy";0
"Radiation proctitis";298
"Vernal keratoconjunctivitis";488
"Carcinoma of esophagus";149
"Pendred syndrome";236
"Cholangiocarcinoma";8315
"Post-transplant lymphoproliferative disease";407
"Small cell lung cancer";39014
"Adult acute respiratory distress syndrome";24
"Infant acute respiratory distress syndrome";0
"Meconium aspiration syndrome";1108
"Bronchopulmonary dysplasia";4920
"Infantile apnea";22
"Chronic thromboembolic pulmonary hypertension";1037
"Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency";0
"Immunodeficiency due to selective anti-polysaccharide antibody deficiency";0
"Dopa-responsive dystonia due to sepiapterin reductase deficiency";0
"Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome";0
"Congenital Epstein-Barr virus infection";0
"Patent arterial duct";136
"Plague";2701
"Peters anomaly";208
"Peters plus syndrome";37
"Chylomicron retention disease";42
"Pfeiffer syndrome";198
"Glycogen storage disease due to phosphoglucomutase deficiency";0
"Rare pulmonary hypertension";0
"Hemolytic anemia due to glucophosphate isomerase deficiency";0
"Rare hemorrhagic disorder due to a constitutional platelet anomaly";0
"Autoimmune thrombocytopenia";503
"Rare soft tissue tumor";188
"Neuromyelitis optica";2010
"Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency";0
"Retinal capillary malformation";0
"Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome";0
"Benign exophthalmos syndrome";0
"Split hand-split foot-deafness syndrome";0
"Sandifer syndrome";40
"Renal nutcracker syndrome";88
"Disseminated peritoneal leiomyomatosis";54
"Rh deficiency syndrome";9
"Silent sinus syndrome";98
"Encephalopathy due to GLUT1 deficiency";0
"Congenital brain dysgenesis due to glutamine synthetase deficiency";0
"CANOMAD syndrome";7
"Rare central nervous system and retinal vascular disease";0
"Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome";0
"Hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome";0
"Hereditary vascular retinopathy";8
"Glycogen storage disease due to phosphoglycerate kinase 1 deficiency";0
"Hemolytic anemia due to diphosphoglycerate mutase deficiency";0
"Familial thrombocytosis";19
"Glycogen storage disease due to muscle phosphorylase kinase deficiency";0
"Cancer-associated retinopathy";149
"Rapid-onset dystonia-parkinsonism";73
"Benign paroxysmal torticollis of infancy";14
"Psychogenic movement disorders";122
"Obesity due to pro-opiomelanocortin deficiency";0
"Obesity due to prohormone convertase I deficiency";0
"Obesity due to melanocortin 4 receptor deficiency";0
"Phenylketonuria";3050
"Catecholamine-producing tumor";37
"Isolated Pierre Robin syndrome";0
"Rare genetic neurological disorder";0
"Retinal dystrophy";818
"Muscular channelopathy";0
"Angelman syndrome";1096
"Pili bifurcati";5
"Gray platelet syndrome";125
"Hypoplasminogenemia";23
"Pneumocystosis";369
"Idiopathic acute eosinophilic pneumonia";15
"Continuous spikes and waves during sleep";23
"Alpers-Huttenlocher syndrome";34
"Microscopic polyangiitis";1161
"Relapsing polychondritis";797
"Polycythemia vera";3580
"Gorham-Stout disease";53
"Intractable diarrhea of infancy";30
"Autosomal recessive polycystic kidney disease";374
"Polymyositis";4014
"Müllerian aplasia";234
"X-linked intellectual disability-hypotonic face syndrome";0
"Global developmental delay-osteopenia-ectodermal defect syndrome";0
"Tubular renal disease-cardiomyopathy syndrome";0
"Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome";0
"Ossification anomalies-psychomotor developmental delay syndrome";0
"Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome";0
"Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome";0
"Eosinophilic esophagitis";1249
"Central neurocytoma";323
"Paracoccidioidomycosis";1097
"Zygomycosis";806
"Non-24-hour sleep-wake syndrome";33
"Bleeding diathesis due to a collagen receptor defect";0
"Growth delay due to insulin-like growth factor type 1 deficiency";0
"Growth delay due to insulin-like growth factor I resistance";0
"Acquired hemophilia";342
"Familial adenomatous polyposis";3423
"Alpha delta granule deficiency";0
"Acute ackee fruit intoxication";0
"Porokeratosis of Mibelli";89
"Palmoplantar porokeratosis of Mantoux";0
"Porokeratosis plantaris palmaris et disseminata";9
"Porphyria";2983
"Prader-Willi syndrome";2351
"Angiostrongyliasis";220
"Hutchinson-Gilford progeria syndrome";343
"Familial mitral valve prolapse";8
"Prolidase deficiency";121
"Hereditary thrombophilia due to congenital protein S deficiency";0
"Proteus syndrome";364
"Hereditary thrombophilia due to congenital protein C deficiency";0
"Mitochondrial trifunctional protein deficiency";29
"Autoimmune pulmonary alveolar proteinosis";34
"Mendelian susceptibility to mycobacterial diseases";29
"Congenital prekallikrein deficiency";5
"Pseudoachondroplasia";177
"Myiasis";840
"46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency";0
"Wolman disease";141
"Cholesteryl ester storage disease";100
"Familial isolated restrictive cardiomyopathy";0
"46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency";0
"Osteosclerosis-ichthyosis-premature ovarian failure syndrome";0
"Retinal arterial tortuosity";7
"North Carolina macular dystrophy";41
"Progressive bifocal chorioretinal atrophy";5
"Bradyopsia";9
"Familial drusen";5
"Central areolar choroidal dystrophy";49
"Oligocone trichromacy";10
"Cystoid macular dystrophy";12
"Oguchi disease";46
"Brain malformation-congenital heart disease-postaxial polydactyly syndrome";0
"Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency";0
"Ehlers-Danlos syndrome, periodontitis type";0
"Androgen insensitivity syndrome";1127
"Ehlers-Danlos syndrome, progeroid type";0
"X-linked Ehlers-Danlos syndrome";0
"Leydig cell hypoplasia";63
"Ehlers-Danlos syndrome, fibronectinemic type";0
"Angioosteohypotrophic syndrome";0
"X-linked sideroblastic anemia";100
"Acquired idiopathic sideroblastic anemia";21
"Tropical endomyocardial fibrosis";16
"Loeffler endocarditis";20
"Primary progressive freezing gait";12
"Pseudohypoaldosteronism type 1";85
"Pseudohypoaldosteronism type 2";12
"SIBIDS syndrome";0
"Pollitt syndrome";3
"Pseudoxanthoma elasticum";790
"Congenital muscular dystrophy, Ullrich type";0
"6q terminal deletion syndrome";7
"MORM syndrome";3
"Central precocious puberty";715
"Strongyloidiasis";1545
"Purine nucleoside phosphorylase deficiency";90
"Immunoglobulin A vasculitis";11
"Pycnodysostosis";138
"Pyomyositis";618
"Pyruvate dehydrogenase deficiency";131
"Hemolytic anemia due to red cell pyruvate kinase deficiency";0
"Polyarteritis nodosa";2531
"Familial long QT syndrome";43
"Rabson-Mendenhall syndrome";53
"Aniridia";990
"Rabies";3817
"Infantile Refsum disease";108
"Primary lymphedema";227
"Lymphedema praecox";16
"Lymphedema tarda";9
"Lipedema";92
"Trichorhinophalangeal syndrome type 1 and 3";0
"Gaucher disease type 1";99
"Gaucher disease type 2";16
"Gaucher disease type 3";15
"Niemann-Pick disease type A";91
"Niemann-Pick disease type B";97
"Odontoleukodystrophy";0
"Morgagni-Stewart-Morel syndrome";10
"Majeed syndrome";28
"Anophthalmia/microphthalmia-esophageal atresia syndrome";0
"Microphthalmia-brain atrophy syndrome";0
"Refsum disease";411
"Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome";0
"Monosomy 9q22.3";0
"Oculo-oto-facial dysplasia";2
"Hereditary hemorrhagic telangiectasia";1713
"X-linked intellectual disability with marfanoid habitus";0
"X-linked non-syndromic intellectual disability";0
"Rett syndrome";2135
"Genetic obesity";95
"Rare genetic odontologic disease";0
"Reynolds syndrome";9
"Ankylostomiasis";30
"Rhabdomyosarcoma";8346
"Q fever";1947
"Axenfeld-Rieger syndrome";134
"Rubinstein-Taybi syndrome";356
"Estrogen resistance syndrome";0
"Glucocorticoid resistance";490
"Hereditary resistance to anti-vitamin K";0
"Congenital alpha2-antiplasmin deficiency";0
"Retinoblastoma";13841
"Simpson-Golabi-Behmel syndrome type 2";6
"Disorder of amino acid and other organic acid metabolism";0
"Juvenile polyposis of infancy";6
"IgG4-related dacryoadenitis and sialadenitis";4
"PPARG-related familial partial lipodystrophy";0
"Familial partial lipodystrophy, Köbberling type";0
"AKT2-related familial partial lipodystrophy";0
"Acquired generalized lipodystrophy";24
"Partial acquired lipodystrophy";0
"Localized lipodystrophy";6
"Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome";0
"Foix-Alajouanine syndrome";20
"Grange syndrome";5
"Congenital bile acid synthesis defect type 4";0
"Pyridoxal phosphate-responsive seizures";0
"Folinic acid-responsive seizures";13
"Sympathetic ophthalmia";346
"Interstitial granulomatous dermatitis with arthritis";0
"Retinitis pigmentosa";5354
"Atrophoderma vermiculata";5
"Hyperprolinemia type 2";12
"Thyrotoxic periodic paralysis";233
"Myxofibrosarcoma";279
"Eiken syndrome";2
"Developmental malformations-deafness-dystonia syndrome";0
"Mandibulofacial dysostosis-microcephaly syndrome";0
"Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome";0
"Hepatic veno-occlusive disease-immunodeficiency syndrome";0
"Acute interstitial pneumonia";202
"Respiratory bronchiolitis-interstitial lung disease syndrome";0
"Lymphoid interstitial pneumonia";145
"Trichodysplasia-amelogenesis imperfecta syndrome";0
"Sparse hair-short stature-skin anomalies syndrome";0
"Focal facial dermal dysplasia type I";0
"DEND syndrome";28
"Episodic ataxia type 3";0
"Episodic ataxia type 4";0
"Generalized epilepsy-paroxysmal dyskinesia syndrome";0
"Bickerstaff brainstem encephalitis";49
"Japanese encephalitis";1970
"Cutaneous neuroendocrine carcinoma";72
"Hereditary painful callosities";4
"Familial Dupuytren contracture";0
"Isolated congenital anonychia";0
"Congenital onychodysplasia";14
"Dowling-Degos disease";71
"Familial progressive hyperpigmentation";9
"Familial reactive perforating collagenosis";3
"Elastosis perforans serpiginosa";85
"Dermochondrocorneal dystrophy";3
"Linear and whorled nevoid hypermelanosis";0
"Acrokeratosis verruciformis of Hopf";14
"Disseminated superficial actinic porokeratosis";105
"Autosomal dominant nail dysplasia";0
"2-aminoadipic 2-oxoadipic aciduria";0
"Encephalopathy due to hydroxykynureninuria";0
"Seizures-intellectual disability due to hydroxylysinuria syndrome";0
"2-methylbutyryl-CoA dehydrogenase deficiency";8
"Cerebral organic aciduria";7
"Isobutyryl-CoA dehydrogenase deficiency";10
"Disorder of carbohydrate metabolism";32
"Classic organic aciduria";0
"Disorder of amino acid absorption and transport";0
"Disorder of urea cycle metabolism and ammonia detoxification";0
"Disorder of bile acid synthesis";0
"Disorder of neurotransmitter metabolism and transport";0
"Disorder of cobalamin metabolism and transport";0
"Creatine deficiency syndrome";24
"Disorder of methionine cycle and sulfur amino acid metabolism";0
"Disorder of fatty acid oxidation and ketone body metabolism";0
"Disorder of gamma-aminobutyric acid metabolism";0
"Gluconeogenesis disorder";0
"Glucose transport disorder";0
"Disorder of glycerol metabolism";0
"Disorder of histidine metabolism";0
"Disorder of ketolysis";0
"Disorder of ornithine or proline metabolism";0
"Disorder of pentose phosphate metabolism";0
"Disorder of peptide metabolism";0
"Peroxisomal beta-oxidation disorder";2
"Peroxisome biogenesis disorder";45
"Disorder of phenylalanin or tyrosine metabolism";0
"Disorder of purine metabolism";44
"Disorder of pyridoxine metabolism";0
"Disorder of pyrimidine metabolism";2
"Disorder of serine or glycine metabolism";0
"Sterol biosynthesis disorder";0
"Disorder of the gamma-glutamyl cycle";1
"Disorder of branched-chain amino acid metabolism";12
"X-linked retinoschisis";197
"Disorder of energy metabolism";0
"Glycogen storage disease";3306
"Lipid storage disease";213
"Disorder of lysosomal amino acid transport";0
"Combined hyperlipidemia";741
"Mucolipidosis";559
"Mucopolysaccharidosis";2911
"Disorder of biogenic amine metabolism and transport";0
"Oligosaccharidosis";11
"Other metabolic disease with skin involvement";0
"Metabolic disease involving other neurotransmitter deficiency";0
"Disorder of purine or pyrimidine metabolism";0
"Sphingolipidosis";69
"Sterol metabolism disorder";0
"Hemochromatosis type 2";18
"Hypoxanthine guanine phosphoribosyltransferase partial deficiency";0
"Crigler-Najjar syndrome type 1";29
"Crigler-Najjar syndrome type 2";23
"Galactokinase deficiency";50
"Galactose epimerase deficiency";0
"Classic galactosemia";114
"Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency";0
"Biotinidase deficiency";275
"Holocarboxylase synthetase deficiency";61
"Pyruvate dehydrogenase E1-alpha deficiency";8
"Pyruvate dehydrogenase E2 deficiency";0
"Pyruvate dehydrogenase phosphatase deficiency";5
"Mild phenylketonuria";30
"Classic phenylketonuria";65
"GM1 gangliosidosis type 1";27
"GM1 gangliosidosis type 2";8
"GM1 gangliosidosis type 3";2
"Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia";0
"Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib";0
"Glycogen storage disease type 1C";2
"Glycogen storage disease type 1D";0
"Adult neuronal ceroid lipofuscinosis";27
"Infantile neuronal ceroid lipofuscinosis";299
"Juvenile neuronal ceroid lipofuscinosis";187
"Sanfilippo syndrome type A";21
"Sanfilippo syndrome type B";30
"Sanfilippo syndrome type C";10
"Sanfilippo syndrome type D";9
"Hereditary coproporphyria";178
"Acute intermittent porphyria";881
"Congenital erythropoietic porphyria";189
"Autosomal erythropoietic protoporphyria";0
"Alpha-N-acetylgalactosaminidase deficiency type 1";0
"Alpha-N-acetylgalactosaminidase deficiency type 2";0
"Alpha-N-acetylgalactosaminidase deficiency type 3";0
"Methylmalonic acidemia with homocystinuria, type cblC";0
"Methylmalonic acidemia with homocystinuria, type cblD";0
"Methylmalonic acidemia with homocystinuria type cblF";0
"Niemann-Pick disease type D";4
"Fish-eye disease";94
"Familial LCAT deficiency";73
"Diazoxide-resistant focal hyperinsulinism";0
"Hyperinsulinism due to glucokinase deficiency";0
"SAPHO syndrome";298
"Congenital bile acid synthesis defect type 1";0
"Congenital bile acid synthesis defect type 3";0
"Congenital bile acid synthesis defect type 2";0
"Progressive familial intrahepatic cholestasis type 2";41
"Progressive familial intrahepatic cholestasis type 3";26
"Progressive familial intrahepatic cholestasis type 1";33
"Vitamin B12-responsive methylmalonic acidemia type cblA";0
"Vitamin B12-responsive methylmalonic acidemia type cblB";0
"Vitamin B12-unresponsive methylmalonic acidemia type mut-";0
"L-2-hydroxyglutaric aciduria";95
"D-2-hydroxyglutaric aciduria";47
"PMM2-CDG";48
"MPI-CDG";15
"ALG6-CDG";3
"ALG3-CDG";5
"DPM1-CDG";3
"MPDU1-CDG";1
"ALG12-CDG";3
"ALG8-CDG";4
"ALG2-CDG";0
"ALG1-CDG";5
"ALG9-CDG";4
"MGAT2-CDG";1
"MOGS-CDG";3
"B4GALT1-CDG";2
"COG7-CDG";3
"Autosomal dominant chondrodysplasia punctata";0
"Brachytelephalangic chondrodysplasia punctata";18
"Chondrodysplasia punctata, tibial-metacarpal type";0
"Chondrodysplasia punctata, Toriello type";0
"3-phosphoserine phosphatase deficiency";3
"3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form";0
"Epidermal disease";28
"Ichthyosis";2728
"Erythrokeratoderma";78
"Acrokeratoderma";30
"Hereditary palmoplantar keratoderma";46
"Porokeratosis";483
"Other epidermal disorder";0
"Other genetic epidermal disease";0
"Inherited epidermolysis bullosa";95
"Epidermal appendage anomaly";0
"Hair anomaly";7
"Alopecia";10807
"Hypertrichosis";1155
"Isolated hair shaft abnormality";0
"Syndromic hair shaft abnormality";0
"Nail anomaly";0
"Isolated nail anomaly";0
"Syndromic nail anomaly";0
"Sebaceous gland anomaly";0
"Ectodermal dysplasia syndrome";67
"Pigmentation anomaly of the skin";0
"Hyperpigmentation of the skin";133
"Hypopigmentation of the skin";41
"Dermis disorder";0
"Dermis elastic tissue disorder";0
"Skin vascular disease";0
"Mixed dermis disorder";0
"Other dermis disorder";0
"Subcutaneous tissue disease";0
"Lymphedema";5644
"Rare urticaria";0
"Unclassified genetic skin disorder";0
"Rare skin tumor or hamartoma";0
"Metabolic disease with skin involvement";0
"Mucopolysaccharidosis with skin involvement";0
"Premature aging";1776
"Rare photodermatosis";19
"Immune deficiency with skin involvement";0
"Congenital non-bullous ichthyosiform erythroderma";6
"Keratoderma hereditarium mutilans with ichthyosis";0
"Epidermolysis bullosa simplex, Dowling-Meara type";1
"Epidermolysis bullosa simplex with mottled pigmentation";19
"Generalized epidermolysis bullosa simplex, non-Dowling-Meara type";0
"Saethre-Chotzen syndrome";167
"Localized epidermolysis bullosa simplex";3
"Epidermolysis bullosa simplex, Ogna type";0
"Generalized junctional epidermolysis bullosa, non-Herlitz type";0
"Junctional epidermolysis bullosa-pyloric atresia syndrome";2
"Junctional epidermolysis bullosa, Herlitz type";0
"Junctional epidermolysis bullosa inversa";1
"Late-onset junctional epidermolysis bullosa";1
"Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type";0
"Severe generalized recessive dystrophic epidermolysis bullosa";7
"Recessive dystrophic epidermolysis bullosa inversa";0
"Pretibial dystrophic epidermolysis bullosa";4
"Transient bullous dermolysis of the newborn";13
"Woolly hair nevus";16
"Hermansky-Pudlak syndrome";424
"Oculocutaneous albinism type 1A";3
"Oculocutaneous albinism type 2";41
"Oculocutaneous albinism type 3";6
"Oculocutaneous albinism type 1B";2
"Oculocutaneous albinism type 4";12
"Pseudohypoparathyroidism type 1A";48
"Pseudohypoparathyroidism type 1C";3
"Pseudopseudohypoparathyroidism";134
"Multiple pterygium syndrome, Aslan type";0
"X-linked lethal multiple pterygium syndrome";0
"Non-hereditary congenital primary lymphedema";0
"Milroy disease";38
"Cutaneous mastocytoma";16
"Diffuse cutaneous mastocytosis";63
"Maculopapular cutaneous mastocytosis";8
"Oley syndrome";2
"Follicular atrophoderma-basal cell carcinoma";0
"Inflammatory linear verrucous epidermal nevus";59
"Verrucous nevus";24
"Acanthokeratolytic verrucous nevus";0
"Porphyria variegata";59
"Atypical Werner syndrome";12
"Griscelli disease type 1";0
"Griscelli disease type 2";0
"Griscelli disease type 3";0
"Pemphigus vegetans";107
"Pemphigus erythematosus";88
"Pemphigus foliaceus";792
"Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome";0
"Phakomatosis cesioflammea";2
"Phakomatosis cesiomarmorata";0
"Phakomatosis spilorosea";0
"Cystic hygroma";676
"Macrocystic lymphatic malformation";9
"Microcystic lymphatic malformation";21
"Pili gemini";2
"Brooke-Spiegler syndrome";90
"X-linked congenital generalized hypertrichosis";2
"Autosomal dominant deafness-onychodystrophy syndrome";0
"Rare form of salmonellosis";0
"DOORS syndrome";9
"Punctate palmoplantar keratoderma type 1";3
"Punctate palmoplantar keratoderma type 2";0
"Ichthyosis hystrix of Curth-Macklin";1
"Ichthyosis hystrix gravior";2
"Cholesterol-ester transfer protein deficiency";1
"Hypotonia-failure to thrive-microcephaly syndrome";0
"Sandhoff disease";336
"Autosomal recessive hyperinsulinism due to SUR1 deficiency";0
"Autosomal recessive hyperinsulinism due to Kir6.2 deficiency";0
"Mild hyperphenylalaninemia";85
"Gardner syndrome";557
"Autoimmune bullous skin disease";19
"Sarcoidosis";14087
"Schinzel-Giedion syndrome";47
"Schizencephaly";326
"47,XYY syndrome";44
"Schwartz-Jampel syndrome";105
"Scleroderma";14188
"Amyotrophic lateral sclerosis";14397
"Tuberous sclerosis complex";2403
"Scott syndrome";96
"Sebastian syndrome";25
"Seckel syndrome";145
"Mixed connective tissue disease";1631
"Antisynthetase syndrome";183
"Shigellosis";1238
"Shwachman-Diamond syndrome";262
"Sialidosis type 1";8
"Silver-Russell syndrome";353
"Sjögren-Larsson syndrome";227
"Peeling skin syndrome";52
"Smith-Lemli-Opitz syndrome";537
"Smith-Magenis syndrome";321
"Hereditary thrombophilia due to congenital antithrombin deficiency";0
"Sneddon syndrome";151
"Ehlers-Danlos syndrome with periventricular heterotopia";0
"Sotos syndrome";289
"Hereditary spherocytosis";1259
"Isolated spina bifida";13
"Primary myelofibrosis";3475
"Sporotrichosis";817
"Stargardt disease";414
"Stickler syndrome";252
"Adult-onset Still disease";80
"Antley-Bixler syndrome";103
"Urogenital tract malformation";0
"Congenital narrowing of cervical spinal canal";0
"Succinyl-CoA:3-ketoacid CoA transferase deficiency";2
"Encephalopathy due to sulfite oxidase deficiency";0
"Rocky Mountain spotted fever";592
"Rickettsialpox";36
"Boutonneuse fever";444
"Epidemic typhus";119
"Murine typhus";302
"Pseudotyphus of California";0
"Scrub typhus";914
"Proximal spinal muscular atrophy type 1";0
"Free sialic acid storage disease";16
"Proximal spinal muscular atrophy type 2";0
"Proximal spinal muscular atrophy type 3";0
"Proximal spinal muscular atrophy type 4";0
"Regional odontodysplasia";65
"Florid cemento-osseous dysplasia";61
"Complex regional pain syndrome";1690
"Vulvovaginal gingival syndrome";7
"Glomuvenous malformation";21
"Congenital primary aphakia";5
"Microtia";869
"Narcolepsy without cataplexy";70
"Morvan syndrome";31
"Solitary bone cyst";111
"Desmoplastic small round cell tumor";366
"Thymic aplasia";37
"CAMOS syndrome";0
"Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome";0
"West-Nile encephalitis";88
"Mycoplasma encephalitis";8
"La Crosse encephalitis";32
"St. Louis encephalitis";269
"Western equine encephalitis";93
"Eastern equine encephalitis";144
"Colorado tick fever";53
"Acute disseminated encephalomyelitis";1238
"Encephalitis lethargica";114
"Steroid-responsive encephalopathy associated with autoimmune thyroiditis";21
"Rubella panencephalitis";19
"Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome";0
"Severe dilated cardiomyopathy due to lamin A/C mutation";0
"Macrostomia-preauricular tags-external ophthalmoplegia syndrome";0
"Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells";0
"PELVIS syndrome";8
"Leukoencephalopathy-metaphyseal chondrodysplasia syndrome";0
"Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency";0
"Microcytic anemia with liver iron overload";0
"X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome";0
"Susac syndrome";147
"Congenital nephrotic syndrome, Finnish type";0
"Fanconi anemia";3007
"Syringocystadenoma papilliferum";175
"Syndromic diarrhea";6
"Idiopathic malabsorption due to bile acid synthesis defects";0
"Senior-Boichis syndrome";0
"Hinman syndrome";26
"Collagen type III glomerulopathy";11
"Fibronectin glomerulopathy";14
"Hereditary thermosensitive neuropathy";1
"Unknown leukodystrophy";0
"Sebocystomatosis";4
"Desmin-related myopathy with Mallory body-like inclusions";0
"Isaac syndrome";1
"Testicular seminomatous germ cell tumor";0
"Sporadic idiopathic steroid-resistant nephrotic syndrome";0
"Atrial tachyarrhythmia with short PR interval";5
"Tay-Sachs disease";817
"Alpha-thalassemia";2422
"Alpha-thalassemia-X-linked intellectual disability syndrome";1
"Beta-thalassemia";7691
"Glanzmann thrombasthenia";289
"Congenital dyserythropoietic anemia";211
"May-Hegglin thrombocytopenia";0
"Paris-Trousseau thrombocytopenia";2
"Perineurioma";254
"Familial encephalopathy with neuroserpin inclusion bodies";41
"Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome";0
"Bothnia retinal dystrophy";2
"Cystic leukoencephalopathy without megalencephaly";0
"Addison disease";1455
"Neurogenic scapuloperoneal syndrome, Kaeser type";0
"Facial onset sensory and motor neuronopathy";9
"Hypomyelination-congenital cataract syndrome";0
"Camptodactyly-tall stature-scoliosis-hearing loss syndrome";0
"Severe achondroplasia-developmental delay-acanthosis nigricans syndrome";0
"Platyspondylic dysplasia, Torrance type";0
"Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome";0
"Craniofacial conodysplasia";1
"Familial digital arthropathy-brachydactyly";2
"Mesomelic dysplasia, Savarirayan type";1
"Microcephalic osteodysplastic dysplasia, Saul-Wilson type";0
"IMAGe syndrome";20
"Pseudodiastrophic dysplasia";3
"Astley-Kendall dysplasia";1
"Infantile osteopetrosis with neuroaxonal dysplasia";0
"Diaphyseal medullary stenosis-bone malignancy syndrome";0
"Craniometadiaphyseal dysplasia, wormian bone type";0
"Endosteal sclerosis-cerebellar hypoplasia syndrome";0
"Metaphyseal dysplasia, Braun-Tinschert type";0
"Singleton-Merten dysplasia";0
"Calvarial doughnut lesions-bone fragility syndrome";0
"Idiopathic juvenile osteoporosis";57
"Spondylo-ocular syndrome";3
"Familial expansile osteolysis";46
"Nodulosis-arthropathy-osteolysis syndrome";2
"Genochondromatosis type 1";0
"Dysspondyloenchondromatosis";7
"Craniosynostosis-anal anomalies-porokeratosis syndrome";0
"X-linked thrombocytopenia with normal platelets";0
"Ischio-vertebral syndrome";0
"Genitopatellar syndrome";19
"Keutel syndrome";28
"Acropectoral syndrome";1
"Fetal Gaucher disease";0
"X-linked intellectual disability, Abidi type";0
"Syndromic X-linked intellectual disability 7";0
"Microphthalmia-ankyloblepharon-intellectual disability syndrome";0
"X-linked intellectual disability, Armfield type";0
"X-linked intellectual disability, Cantagrel type";0
"Christianson syndrome";12
"Syndromic X-linked intellectual disability due to JARID1C mutation";0
"X-linked intellectual disability-cubitus valgus-dysmorphism syndrome";0
"MECP2 duplication syndrome";43
"MEHMO syndrome";0
"X-linked intellectual disability, Miles-Carpenter type";0
"BRESEK syndrome";1
"X-linked intellectual disability, Schimke type";0
"X-linked intellectual disability, Shashi type";0
"X-linked intellectual disability, Siderius type";0
"X-linked intellectual disability, Stocco Dos Santos type";0
"X-linked intellectual disability, Vitale type";0
"X-linked intellectual disability, Wilson type";0
"X-linked intellectual disability, Wittwer type";0
"X-linked spinocerebellar ataxia type 4";0
"X-linked intellectual disability, Cabezas type";0
"X-linked epilepsy-learning disabilities-behavior disorders syndrome";0
"HSD10 disease, atypical type";0
"X-linked spinocerebellar ataxia type 3";0
"Fetal and neonatal alloimmune thrombocytopenia";80
"X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome";0
"X-linked intellectual disability-precocious puberty-obesity syndrome";0
"X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome";0
"X-linked intellectual disability-macrocephaly-macroorchidism syndrome";0
"Deafness-intellectual disability syndrome, Martin-Probst type";0
"X-linked intellectual disability, Pai type";0
"X-linked intellectual disability, Seemanova type";0
"X-linked intellectual disability, Shrimpton type";0
"X-linked intellectual disability, Stevenson type";0
"X-linked intellectual disability, Stoll type";0
"X-linked intellectual disability-acromegaly-hyperactivity syndrome";0
"X-linked intellectual disability, Turner type";0
"X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome";0
"X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome";0
"X-linked intellectual disability-retinitis pigmentosa syndrome";0
"X-linked intellectual disability-spastic paraplegia with iron deposits syndrome";0
"X-linked neurodegenerative syndrome, Bertini type";0
"Fried syndrome";4
"X-linked neurodegenerative syndrome, Hamel type";0
"X-linked intellectual disability, Zorick type";0
"X-linked intellectual disability-ataxia-apraxia syndrome";0
"Primitive portal vein thrombosis";0
"Rheumatoid factor-negative juvenile idiopathic arthritis";1
"Oligoarticular juvenile idiopathic arthritis";39
"Systemic-onset juvenile idiopathic arthritis";152
"Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis";0
"Psoriasis-related juvenile idiopathic arthritis";0
"Enthesitis-related juvenile idiopathic arthritis";0
"Short stature-pituitary and cerebellar defects-small sella turcica syndrome";0
"AL amyloidosis";1159
"AA amyloidosis";645
"Wild type ABeta2M amyloidosis";0
"ATTRV30M amyloidosis";0
"AGel amyloidosis";13
"Hereditary amyloidosis with primary renal involement";0
"ATTRV122I amyloidosis";0
"X-linked reticulate pigmentary disorder";10
"Hereditary cerebral hemorrhage with amyloidosis";152
"Townes-Brocks syndrome";75
"Congenital toxoplasmosis";1319
"Transcobalamin deficiency";11
"Familial abdominal aortic aneurysm";8
"Congenitally uncorrected transposition of the great arteries";0
"Treacher-Collins syndrome";399
"Trichinellosis";872
"DPAGT1-CDG";6
"Trichofolliculoma";71
"Familial multiple trichoepithelioma";0
"X-linked severe congenital neutropenia";3
"Patella aplasia/hypoplasia";0
"Localized lichen myxedematosus";7
"Atypical lichen myxedematosus";0
"Triose phosphate-isomerase deficiency";16
"Autosomal recessive limb-girdle muscular dystrophy type 2K";0
"Helicoid peripapillary chorioretinal degeneration";5
"Benign adult familial myoclonic epilepsy";23
"Aplasia of lacrimal and salivary glands";8
"Congenital analbuminemia";14
"Hemolytic anemia due to adenylate kinase deficiency";0
"Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome";0
"Atrichia with papular lesions";42
"Familial avascular necrosis of femoral head";0
"Lissencephaly type 3-familial fetal akinesia sequence syndrome";0
"Lissencephaly type 3-metacarpal bone dysplasia syndrome";0
"Lissencephaly with cerebellar hypoplasia";0
"Chronic neutrophilic leukemia";152
"Chronic myeloproliferative disease, unclassifiable";0
"Juvenile myelomonocytic leukemia";350
"Refractory cytopenia with multilineage dysplasia";120
"Refractory anemia with excess blasts";353
"Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality";0
"Acute panmyelosis with myelofibrosis";12
"Acute myeloid leukemia with multilineage dysplasia";18
"Therapy related acute myeloid leukemia and myelodysplastic syndrome";6
"Acute basophilic leukemia";29
"Myeloid sarcoma";594
"Acute leukemia of ambiguous lineage";12
"B-cell prolymphocytic leukemia";67
"Splenic marginal zone lymphoma";330
"Plasmacytoma";3638
"Non-amyloid monoclonal immunoglobulin deposition disease";0
"Heavy chain disease";399
"Nodal marginal zone B-cell lymphoma";46
"Lymphomatoid granulomatosis";521
"CD4+/CD56+ hematodermic neoplasm";5
"T-cell prolymphocytic leukemia";188
"T-cell large granular lymphocyte leukemia";63
"Aggressive NK-cell leukemia";79
"Adult T-cell leukemia/lymphoma";1216
"Extranodal nasal NK/T cell lymphoma";4
"Enteropathy-associated T-cell lymphoma";263
"Hepatosplenic T-cell lymphoma";152
"Subcutaneous panniculitis-like T-cell lymphoma";196
"Primary cutaneous peripheral T-cell lymphoma not otherwise specified";0
"Angioimmunoblastic T-cell lymphoma";505
"Nodular lymphocyte predominant Hodgkin lymphoma";174
"Histiocytic sarcoma";442
"Langerhans cell sarcoma";52
"Triple A syndrome";132
"Interdigitating dendritic cell sarcoma";67
"Follicular dendritic cell sarcoma";197
"Dendritic cell sarcoma not otherwise specified";0
"Methotrexate-associated lymphoproliferative disorders";14
"Hypothalamic hamartomas with gelastic seizures";0
"Idiopathic hemiconvulsion-hemiplegia syndrome";0
"Myoclonic epilepsy of infancy";158
"Epilepsy with myoclonic absences";30
"Myoclonic epilepsy in non-progressive encephalopathies";0
"Lymphedema-cerebral arteriovenous anomaly syndrome";0
"Lymphedema-atrial septal defects-facial changes syndrome";0
"Diffuse palmoplantar keratoderma-acrocyanosis syndrome";0
"Keratosis palmaris et plantaris-clinodactyly syndrome";0
"Dermatopathia pigmentosa reticularis";15
"Hereditary palmoplantar keratoderma, Gamborg-Nielsen type";0
"Apert syndrome";473
"Down syndrome";15879
"Familial progressive cardiac conduction defect";0
"Rare intellectual disability";4
"Desmoid tumor";686
"Primary adult heart tumor";0
"Primary pediatric heart tumor";0
"Mal de Meleda";70
"Yolk sac tumor";963
"Neuroendocrine tumor";2495
"Sialidosis type 2";7
"Non-syndromic genetic deafness";0
"Tungiasis";161
"Idiopathic aplastic anemia";81
"Turner syndrome";4187
"Tyrosinemia type 1";82
"Extragonadal teratoma";21
"Tetrasomy 12p";62
"Usher syndrome";641
"Autosomal recessive non-syndromic intellectual disability";2
"Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency";0
"Familial acute necrotizing encephalopathy";1
"Isolated congenital anosmia";19
"Ichthyosis prematurity syndrome";12
"Posterior column ataxia-retinitis pigmentosa syndrome";0
"Tritanopia";68
"Terminal osseous dysplasia-pigmentary defects syndrome";0
"Anterior segment dysgenesis";146
"Superior limbic keratoconjunctivitis";69
"Myopathy due to calsequestrin and SERCA1 protein overload";0
"Aortic dilatation-joint hypermobility-arterial tortuosity syndrome";0
"Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome";0
"Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency";0
"Channelopathy-associated congenital insensitivity to pain";0
"Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome";0
"Autosomal recessive ataxia, Beauce type";0
"Autosomal dominant progressive nephropathy with hypertension";0
"Pseudohyperaldosteronism type 2";0
"Amelogenesis imperfecta";575
"Hepatocellular carcinoma";63771
"VACTERL/VATER association";6
"Van der Woude syndrome";190
"Cutaneous leukocytoclastic angiitis";14
"X-linked Alport syndrome";141
"Autosomal dominant Alport syndrome";14
"Autosomal recessive Alport syndrome";48
"Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis";0
"Pseudohypoaldosteronism type 2A";0
"Pseudohypoaldosteronism type 2B";0
"Pseudohypoaldosteronism type 2C";0
"Autosomal dominant medullary cystic kidney disease without hyperuricemia";0
"Autosomal dominant medullary cystic kidney disease with hyperuricemia";0
"Congenital heart malformation";122
"Esophageal malformation";8
"Hepatic veno-occlusive disease";1050
"Rare dementia";7
"Familial exudative vitreoretinopathy";211
"Von Hippel-Lindau disease";2120
"WAGR syndrome";134
"Waardenburg syndrome type 1";32
"Waardenburg syndrome type 2";54
"Waardenburg syndrome type 3";4
"Waardenburg-Shah syndrome";23
"Wagner disease";11
"Rare skin disease";93
"Syndromic lymphedema";0
"Palmoplantar keratoderma with tonotubular keratin";0
"KRT14-related epidermolysis bullosa simplex";0
"Epidermolysis bullosa simplex superficialis";1
"Junctional epidermolysis bullosa, non-Herlitz type";0
"Centripetalis recessive dystrophic epidermolysis bullosa";0
"Recessive dystrophic epidermolysis bullosa-generalized other";0
"Dystrophic epidermolysis bullosa pruriginosa";10
"Lissencephaly syndrome, Norman-Roberts type";0
"Walker-Warburg syndrome";287
"X-linked hypophosphatemia";161
"Autosomal dominant hypophosphatemic rickets";88
"Infantile Bartter syndrome with sensorineural deafness";0
"Tetrasomy X";11
"Argininemia";37
"Granulomatosis with polyangiitis";4070
"Erythema elevatum diutinum";185
"X-linked cone dysfunction syndrome with myopia";0
"Undifferentiated connective tissue syndrome";6
"IgG4-related hepatopathy";2
"Amyotrophic lateral sclerosis-parkinsonism-dementia complex";72
"Radiation myelitis";84
"Cardiomyopathy-renal anomalies syndrome";0
"Primary immunodeficiency syndrome due to p14 deficiency";0
"Deafness with labyrinthine aplasia, microtia, and microdontia";0
"Syndactyly";2115
"Primary erythermalgia";31
"Hemolytic anemia due to glutathione reductase deficiency";0
"Non-spherocytic hemolytic anemia due to hexokinase deficiency";0
"Autoimmune hemolytic anemia, warm type";0
"Paroxysmal cold hemoglobinuria";59
"Mixed-type autoimmune hemolytic anemia";11
"Drug-induced autoimmune hemolytic anemia";4
"Typical hemolytic-uremic syndrome";32
"Hemoglobin D disease";2
"Gaisböck syndrome";2
"Primary familial polycythemia";1
"Familial pseudohyperkalemia";10
"Hereditary folate malabsorption";43
"Retinopathy of prematurity";4309
"Sepsis in premature infants";0
"Recurrent hepatitis C virus induced liver disease in liver transplant recipients";0
"Hematopoietic stem cell transplantation";28837
"Moderate and severe traumatic brain injury";0
"Spinal cord injury";16586
"Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma";0
"Diffuse alveolar hemorrhage";426
"Non-infectious posterior uveitis";11
"Acute liver failure";4322
"Acute peripheral arterial occlusion";44
"Acquired aneurysmal subarachnoid hemorrhage";0
"Pneumonia caused by Pseudomonas aeruginosa infection";0
"Cocaine intoxication";182
"Systemic monochloroacetate poisoning";0
"Hepatitis B reinfection following liver transplantation";0
"Partial deep dermal and full thickness burns";0
"Other acquired skin disease";0
"Invasive infections due to vancomycin-resistant enterococci";0
"Anthracycline extravasation";26
"Scarring in glaucoma filtration surgical procedures";0
"AIDS wasting syndrome";51
"Wells syndrome";328
"Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome";0
"Autosomal dominant intermediate Charcot-Marie-Tooth disease";0
"Hereditary motor and sensory neuropathy, Okinawa type";0
"Severe early-onset axonal neuropathy due to MFN2 deficiency";0
"Hereditary motor and sensory neuropathy with acrodystrophy";0
"Hereditary motor and sensory neuropathy type 6";0
"Mandibuloacral dysplasia with type A lipodystrophy";8
"Mandibuloacral dysplasia with type B lipodystrophy";2
"Centrifugal lipodystrophy";5
"Drug-induced localized lipodystrophy";0
"Idiopathic localized lipodystrophy";0
"Panniculitis and localized lipodystrophy";0
"Pressure-induced localized lipoatrophy";0
"Non-hereditary late-onset primary lymphedema";0
"Meige disease";12
"Werner syndrome";1187
"Chilblain lupus";69
"Discoid lupus erythematosus";1263
"Hypertrophic or verrucous lupus erythematosus";0
"Lupus erythematosus tumidus";41
"Lupus erythematosus panniculitis";148
"Localized scleroderma";1886
"CREST syndrome";487
"Systemic sclerosis";9425
"Von Willebrand disease";2046
"Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome";0
"Parkes Weber syndrome";57
"Klippel-Trénaunay syndrome";450
"Ehlers-Danlos syndrome type 1";1
"Ehlers-Danlos syndrome type 2";2
"Cockayne syndrome type 1";0
"Cockayne syndrome type 2";0
"Cockayne syndrome type 3";0
"Margarita island ectodermal dysplasia";1
"Blau syndrome";149
"Early-onset sarcoidosis";53
"Xeroderma pigmentosum variant";152
"Autosomal dominant cutis laxa";16
"Autosomal recessive cutis laxa type 1";0
"Autosomal recessive cutis laxa type 2";5
"Brittle cornea syndrome";30
"Primary intestinal lymphangiectasia";73
"Secondary intestinal lymphangiectasia";5
"Hypotrichosis simplex of the scalp";0
"Telangiectasia macularis eruptiva perstans";46
"Anonychia-onychodystrophy syndrome";0
"Nodular lichen myxedematosus";0
"Discrete papular lichen myxedematosus";4
"Papular mucinosis of infancy";0
"Acral persistent papular mucinosis";18
"Self-healing papular mucinosis";0
"Localized lichen myxedematosus with mixed features of different subtypes";0
"Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms";0
"Williams syndrome";1521
"Scleromyxedema without monoclonal gammopathy";0
"Wilson disease";1191
"Wiskott-Aldrich syndrome";1808
"X-linked non-syndromic sensorineural deafness type DFN";0
"Autosomal dominant non-syndromic sensorineural deafness type DFNA";0
"Autosomal recessive non-syndromic sensorineural deafness type DFNB";0
"Mitochondrial non-syndromic sensorineural deafness";0
"Syndromic genetic deafness";0
"Deafness-hypogonadism syndrome";0
"Jervell and Lange-Nielsen syndrome";107
"Orofaciodigital syndrome type 7";0
"Otopalatodigital syndrome type 1";4
"Otopalatodigital syndrome type 2";7
"Stickler syndrome type 1";47
"Stickler syndrome type 2";6
"Charcot-Marie-Tooth disease type 1E";0
"Hypothyroidism due to TSH receptor mutations";0
"Isolated thyroid-stimulating hormone deficiency";4
"Rare endocrine growth disease";0
"Panhypopituitarism";901
"Disorder of sex development";188
"46,XX disorder of sex development induced by fetal androgens excess";0
"46,XY disorder of sex development due to a testosterone synthesis defect";0
"46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect";0
"46,XY disorder of sex development due to testicular steroidogenesis defect";0
"Congenital lipoid adrenal hyperplasia due to STAR deficency";0
"Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency";0
"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency";0
"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency";0
"Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency";48
"46,XY disorder of sex development due to isolated 17,20-lyase deficiency";0
"Partial androgen insensitivity syndrome";117
"Fragile X syndrome";4014
"Cerebrotendinous xanthomatosis";445
"Primary lipodystrophy";0
"Aromatase deficiency";121
"Xeroderma pigmentosum";4095
"Autosomal recessive axonal hereditary motor and sensory neuropathy";0
"Other metabolic disease";11
"Combined immunodeficiency due to ZAP70 deficiency";0
"Adenovirus infection in immunocompromised patients";0
"Anophthalmia-heart and pulmonary anomalies-intellectual disability syndrome";0
"Cardiomyopathy-hypotonia-lactic acidosis syndrome";0
"DK1-CDG";2
"Ichthyosis-hypotrichosis syndrome";0
"Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome";0
"Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency";0
"Acquired monoclonal Ig light chain-associated Fanconi syndrome";0
"Immunotactoid or fibrillary glomerulopathy";0
"Cryoglobulinemic vasculitis";164
"Simple cryoglobulinemia";0
"Unspecified juvenile idiopathic arthritis";0
"46,XX disorder of sex development induced by maternal-derived androgen";0
"Zellweger syndrome";688
"Zollinger-Ellison syndrome";1565
"TSH-secreting pituitary adenoma";93
"Functioning gonadotropic adenoma";0
"Non-functioning pituitary adenoma";133
"Pituitary deficiency due to Rathke's pouch cysts";0
"Pituitary dermoid and epidermoid cysts";0
"Germinoma of the central nervous system";5
"Pituitary deficiency due to empty sella turcica syndrome";0
"Sheehan syndrome";60
"Duplication of the esophagus";0
"Congenital esophageal diverticulum";3
"Chronic pneumonitis of infancy";9
"Non-specific interstitial pneumonia";223
"Hereditary angioedema";1146
"Acquired angioedema";159
"Familial thoracic aortic aneurysm and aortic dissection";0
"Isolated cryptophthalmia";0
"Isolated ankyloblepharon filiforme adnatum";0
"Congenital ptosis";293
"Marcus-Gunn syndrome";12
"Congenital Horner syndrome";13
"Pilomatrixoma";470
"Isolated congenital alacrima";0
"Ring dermoid of cornea";1
"Rieger anomaly";55
"Isolated congenital megalocornea";0
"Isolated congenital sclerocornea";0
"Congenital ectropion uveae";11
"Early-onset non-syndromic cataract";0
"Macular coloboma-cleft palate-hallux valgus syndrome";0
"Persistent hyperplastic primary vitreous";259
"Snowflake vitreoretinal degeneration";10
"Familial congenital palsy of trochlear nerve";0
"Aarskog-Scott syndrome";31
"Tubulointerstitial nephritis and uveitis syndrome";62
"Lyme disease";5827
"Relapsing fever";510
"Aase-Smith syndrome";9
"ABCD syndrome";2
"Juvenile idiopathic arthritis";3160
"Ablepharon macrostomia syndrome";18
"Congenital tufting enteropathy";15
"Abruzzo-Erickson syndrome";3
"Familial nasal acilia";0
"Acatalasemia";52
"Hyperammonemia due to N-acetylglutamate synthase deficiency";0
"Achalasia-microcephaly syndrome";2
"Aspartylglucosaminuria";147
"Idiopathic achalasia";118
"Acheiropodia";18
"Renal agenesis, unilateral";0
"Renal hypoplasia";299
"Renal dysplasia";903
"Congenital megacalycosis";6
"Posterior urethral valve";213
"Renal cysts and diabetes syndrome";29
"Autosomal dominant intermediate Charcot-Marie-Tooth disease type E";0
"Pauci-immune glomerulonephritis";90
"Hypocalcemic vitamin D-resistant rickets";9
"Transient pseudohypoaldosteronism";14
"Renal dysplasia, unilateral";0
"Renal dysplasia, bilateral";0
"Unilateral congenital megacalycosis";0
"Congenital bilateral megacalycosis";0
"Achondrogenesis";160
"Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis";0
"Idiopathic steroid-sensitive nephrotic syndrome with minimal change";0
"Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation";0
"Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis";0
"Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation";0
"Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes";0
"Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis";0
"Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis";0
"Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis";0
"Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes";0
"Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation";0
"Fragile X-associated tremor/ataxia syndrome";256
"Pfeiffer syndrome type 1";3
"Pfeiffer syndrome type 2";9
"Pfeiffer syndrome type 3";3
"Crouzon syndrome-acanthosis nigricans syndrome";0
"Cloverleaf skull-multiple congenital anomalies syndrome";0
"Short rib-polydactyly syndrome, Beemer-Langer type";0
"Short rib-polydactyly syndrome, Majewski type";4
"Short rib-polydactyly syndrome, Saldino-Noonan type";0
"Short rib-polydactyly syndrome, Verma-Naumoff type";7
"Thanatophoric dysplasia type 2";11
"Thanatophoric dysplasia, Glasgow variant";0
"Polyostotic fibrous dysplasia";862
"Monostotic fibrous dysplasia";300
"Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis";0
"Spondyloepiphyseal dysplasia, Omani type";2
"Spondyloepimetaphyseal dysplasia, PAPSS2 type";0
"Spondyloepiphyseal dysplasia, Kimberley type";0
"Spondyloepiphyseal dysplasia tarda";101
"Adenoma of pancreas";0
"Okihiro syndrome";26
"Achondrogenesis type 2";8
"Hypochondrogenesis";42
"Achondrogenesis type 1B";12
"Achondrogenesis type 1A";4
"Brachyolmia type 1, Hobaek type";0
"Brachyolmia, Maroteaux type";0
"Brachyolmia type 1, Toledo type";0
"Autosomal dominant brachyolmia";7
"Multiple epiphyseal dysplasia type 4";0
"Multiple epiphyseal dysplasia type 1";0
"Multiple epiphyseal dysplasia type 5";0
"Spondylometaphyseal dysplasia, Kozlowski type";3
"Spondylometaphyseal dysplasia, 'corner fracture' type";1
"Spondylometaphyseal dysplasia, Schmidt type";0
"Spondylometaphyseal dysplasia, Sedaghatian type";2
"Ulnar hemimelia";3
"Radial hemimelia";6
"Tibial hemimelia";69
"Fibular hemimelia";80
"Autosomal recessive Kenny-Caffey syndrome";2
"Autosomal dominant Kenny-Caffey syndrome";0
"Autosomal dominant omodysplasia";2
"Autosomal recessive omodysplasia";9
"Pelviscapular dysplasia";1
"Postaxial polydactyly type A";20
"Postaxial polydactyly type B";7
"Polydactyly of a triphalangeal thumb";0
"Polydactyly of an index finger";0
"Polysyndactyly";159
"Polydactyly of a biphalangeal thumb";0
"Spondyloepimetaphyseal dysplasia congenita, Strudwick type";0
"Anauxetic dysplasia";7
"X-linked spondyloepimetaphyseal dysplasia";0
"Spondyloepimetaphyseal dysplasia, Irapa type";0
"Spondyloepimetaphyseal dysplasia, Shohat type";1
"Spondyloepimetaphyseal dysplasia, Missouri type";0
"SPONASTRIME dysplasia";13
"Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome";0
"Spondyloepimetaphyseal dysplasia with joint laxity";17
"Spondyloepimetaphyseal dysplasia with multiple dislocations";6
"Familial hypocalciuric hypercalcemia type 1";0
"Brachydactyly type A6";0
"Brachydactyly type B";41
"Brachydactyly type C";26
"Brachydactyly type E";44
"Brachydactyly type A1";21
"Brachydactyly type A5";0
"Brachydactyly type A4";2
"Ballard syndrome";0
"Brachydactyly type A2";12
"Brachydactyly type A7";0
"Genochondromatosis type 2";0
"Juvenile sialidosis type 2";0
"Congenital sialidosis type 2";0
"Syndactyly type 1";5
"Syndactyly type 2";0
"Syndactyly type 3";0
"Syndactyly type 4";0
"Syndactyly type 5";0
"Brachydactyly-syndactyly, Zhao type";0
"Rare bone disease";23
"FGFR3-related chondrodysplasia";3
"Type 2 collagen-related bone disorder";0
"Type 11 collagen-related bone disorder";0
"Sulfation-related bone disorder";0
"Perlecan-related bone disorder";0
"Filamin-related bone disorder";0
"Short rib dysplasia";5
"Multiple epiphyseal dysplasia and pseudoachondroplasia";0
"Multiple metaphyseal dysplasia";0
"Spondylodysplastic dysplasia";0
"Acromelic dysplasia";8
"Acromesomelic dysplasia";55
"Mesomelic and rhizo-mesomelic dysplasia";0
"Bent bone dysplasia";9
"Slender bone dysplasia";0
"Primary bone dysplasia with multiple joint dislocations";0
"Chondrodysplasia punctata";628
"Neonatal osteosclerotic dysplasia";0
"Primary bone dysplasia with increased bone density";0
"Primary bone dysplasia with decreased bone density";0
"Primary bone dysplasia with defective bone mineralization";0
"Lysosomal storage disease with skeletal involvement";0
"Primary osteolysis";6
"Primary bone dysplasia with disorganized development of skeletal components";0
"Cleidocranial dysplasia and isolated cranial ossification defect";0
"Dysostosis with predominant craniofacial involvement";0
"Dysostosis with predominant vertebral and costal involvement";0
"Patellar dysostosis";0
"Non-syndromic limb reduction defect";0
"Non-syndromic polydactyly, syndactyly and/or hyperphalangy";0
"Syndrome with synostosis or other joint formation defect";0
"Overgrowth syndrome";293
"Chromosomal disease with overgrowth";0
"Lethal chondrodysplasia";41
"Hurler syndrome";272
"Scheie syndrome";88
"Hurler-Scheie syndrome";42
"Short-limb skeletal dysplasia with severe combined immunodeficiency";0
"Renal or urinary tract malformation";0
"Non-syndromic renal or urinary tract malformation";0
"Syndromic renal or urinary tract malformation";0
"Glomerular disease";1717
"Basement membrane disease";1014
"Secondary glomerular disease";30
"Pediatric systemic lupus erythematosus";117
"Type II mixed cryoglobulinemia";104
"Mixed cryoglobulinemia type III";0
"Heavy chain deposition disease";61
"Light and heavy chain deposition disease";24
"Light chain deposition disease";270
"C3 deposition glomerulonephritis without proliferation";0
"AApoAI amyloidosis";5
"ALys amyloidosis";1
"AFib amyloidosis";7
"Juvenile polymyositis";25
"Polymyalgia rheumatica";1638
"Dense deposit disease";188
"Thrombotic microangiopathy";1759
"Atypical hemolytic-uremic syndrome with C3 anomaly";0
"Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly";0
"Atypical hemolytic-uremic syndrome with B factor anomaly";0
"Atypical hemolytic-uremic syndrome with H factor anomaly";0
"Atypical hemolytic-uremic syndrome with I factor anomaly";0
"Atypical hemolytic-uremic syndrome with anti-factor H antibodies";0
"Congenital thrombotic thrombocytopenic purpura";56
"Acquired thrombotic thrombocytopenic purpura";110
"Familial cystic renal disease";0
"Late-onset nephronophthisis";0
"Infantile nephronophthisis";11
"Juvenile nephronophthisis";131
"Nephropathy secondary to a storage or other metabolic disease";0
"Primary hyperoxaluria type 1";277
"Primary hyperoxaluria type 2";32
"Succinic acidemia";1
"Primary hyperoxaluria type 3";6
"Xanthinuria type I";17
"Xanthinuria type II";5
"Rare renal tubular disease";0
"Antenatal Bartter syndrome";40
"Classic Bartter syndrome";30
"Nephrogenic syndrome of inappropriate antidiuresis";31
"Autosomal recessive proximal renal tubular acidosis";3
"Autosomal dominant distal renal tubular acidosis";9
"Autosomal recessive distal renal tubular acidosis without deafness";0
"Distal renal tubular acidosis with anemia";0
"Autosomal recessive distal renal tubular acidosis with deafness";0
"Cystinuria type A";2
"Cystinuria type B";2
"Hematological disorder with renal involvement";0
"Hemoglobin H disease";166
"Rare cause of hypertension";0
"Rare renal tumor";32
"Dent disease type 1";0
"Dent disease type 2";0
"Rare renal disease";17
"Autoinflammatory syndrome";200
"Juvenile dermatomyositis";711
"Pediatric Castleman disease";3
"Localized Castleman disease";11
"Multicentric Castleman disease";229
"Rare developmental defect during embryogenesis";0
"3-hydroxyisobutyric aciduria";11
"Neurofibromatosis type 3";0
"Lobar holoprosencephaly";65
"Alobar holoprosencephaly";131
"Midline interhemispheric variant of holoprosencephaly";0
"Epispadias";687
"Cloacal exstrophy";324
"Bladder exstrophy";1365
"FG syndrome type 1";0
"Terminal transverse defects of arm";0
"Laryngotracheoesophageal cleft type 1";0
"Laryngotracheoesophageal cleft type 2";0
"Laryngotracheoesophageal cleft type 3";0
"Laryngotracheoesophageal cleft type 4";0
"Celosomia";5
"Corpus callosum dysgenesis-hypopituitarism syndrome";0
"X-linked intellectual disability, Fichera type";0
"X-linked intellectual disability, Porteous type";0
"Hamel cerebro-palato-cardiac syndrome";0
"X-linked intellectual disability, Golabi-Ito-Hall type";0
"X-linked intellectual disability, Sutherland-Haan type";0
"X-linked dominant intellectual disability-epilepsy syndrome";0
"X-linked intellectual disability, Hedera type";0
"Familial thyroglossal duct cyst";1
"Oromandibular dystonia";202
"Blepharospasm-oromandibular dystonia syndrome";5
"Meningocele";1673
"Myelomeningocele";2329
"Holmes-Gang syndrome";0
"Chudley-Lowry-Hoar syndrome";0
"Juberg-Marsidi syndrome";8
"Carpenter-Waziri syndrome";0
"Smith-Fineman-Myers syndrome";10
"Renier-Gabreels-Jasper syndrome";0
"Anotia";91
"Astrocytoma";13390
"Humero-ulnar synostosis";1
"Neovascular glaucoma";1256
"Uremic pruritus";154
"12q14 microdeletion syndrome";11
"Deafness-infertility syndrome";2
"15q24 microdeletion syndrome";7
"Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia";0
"Spondyloepiphyseal dysplasia congenita";95
"Severe immune-mediated enteropathy";0
"Non-secreting paraganglioma";6
"Partington syndrome";19
"Pachygyria-epilepsy-intellectual disability-dysmorphism syndrome";0
"Blue diaper syndrome";6
"Cytophagic histiocytic panniculitis";61
"Hereditary renal hypouricemia";16
"Pseudohypoparathyroidism type 1B";57
"Pseudohypoparathyroidism type 2";5
"Mills syndrome";9
"Neuroleptic malignant syndrome";1264
"Spondylocostal dysostosis-anal and genitourinary malformations syndrome";0
"D-glyceric aciduria";11
"Cerebellar ataxia, Cayman type";0
"Spinocerebellar ataxia type 1 with axonal neuropathy";0
"Recessive mitochondrial ataxia syndrome";0
"Autosomal dominant cerebellar ataxia type I";22
"Spinocerebellar ataxia type 7";116
"Autosomal dominant cerebellar ataxia type III";8
"Autosomal dominant cerebellar ataxia type IV";0
"Anonychia congenita totalis";0
"Malonic aciduria";22
"Acalvaria";13
"Acrocephalosyndactyly";116
"Acrocraniofacial dysostosis";4
"Friedreich ataxia";1662
"Acrodysostosis";55
"Acute hepatic porphyria";78
"Hepatoerythropoietic porphyria";175
"Chronic hepatic porphyria";31
"Acrofacial dysostosis, Weyers type";0
"Lissencephaly due to LIS1 mutation";0
"Acute adrenal insufficiency";182
"Chronic pain requiring intraspinal analgesia";0
"Secondary short bowel syndrome";0
"COG8-CDG";1
"Angioma serpiginosum";31
"Congenital tracheomalacia";15
"Twin to twin transfusion syndrome";540
"Primary progressive aphasia";756
"Autosomal recessive cerebellar ataxia-blindness-deafness syndrome";0
"Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome";0
"Mesocardia";32
"Aortic valve atresia";38
"Congenital aortic valve insufficiency";3
"Toxic epidermal necrolysis";1794
"Tricuspid valve agenesis";0
"Tricuspid valve prolapse";119
"Congenital tricuspid stenosis";8
"Straddling or overriding tricuspid valve";0
"Accessory tricuspid valve tissue";4
"Anomaly of the tricuspid subvalvular apparatus";0
"Congenital mitral valve insufficiency and/or stenosis";0
"Cleft mitral valve";59
"Double-orifice mitral valve";99
"Univentricular cardiopathy";0
"Aneurysm or dilatation of ascending aorta";0
"Arterial duct anomaly";0
"Premature closure of the arterial duct";0
"Non-acquired pituitary hormone deficiency";0
"Congenital coronary artery aneurysm";5
"Abnormal origin or aberrant course of coronary artery";0
"Combined pituitary hormone deficiencies, genetic forms";0
"Disease associated with non-acquired combined pituitary hormone deficiency";0
"Pituitary stalk interruption syndrome";52
"Congenital anomaly of superior vena cava";0
"Congenital anomaly of the inferior vena cava";0
"Acroosteolysis dominant type";0
"Congenital anomaly of the coronary sinus";0
"Congenital central diabetes insipidus";1
"Acquired pituitary hormone deficiency";0
"Pituitary hormone deficiency from tumoral origin";0
"Pituitary hormone deficiency from meningeal origin";0
"Primary hypophysitis";20
"Congenital anomaly of hepatic vein";0
"Atrial appendage anomaly";0
"Adenohypophysitis";74
"Panhypophysitis";11
"Acropectororenal dysplasia";0
"Pituitary hormone defiency from vascular origin";0
"Pituitary apoplexy";718
"Pituitary hormone deficiency secondary to a granulomatous disease";0
"Pituitary hormone deficiency secondary to storage disease";0
"Iatrogenic or traumatic pituitary deficiency";0
"Acquired central diabetes insipidus";8
"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency";0
"Acropectorovertebral dysplasia";0
"Familial adrenal hypoplasia with absent pituitary luteinizing hormone";0
"Congenital adrenal hypoplasia of maternal cause";0
"Cytomegalic congenital adrenal hypoplasia";0
"Posterior hypospadias";46
"Isolated micropenis";16
"Precocious puberty";3152
"Acquired premature ovarian failure";0
"Non-acquired premature ovarian failure";0
"Congenital hypothyroidism due to developmental anomaly";0
"Thyroid ectopia";39
"Athyreosis";103
"Primary congenital hypothyroidism without thyroid developmental anomaly";0
"Congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies";0
"Familial thyroid dyshormonogenesis";0
"Idiopathic congenital hypothyroidism";0
"Congenital thyroid malformation without hypothyroidism";0
"Thyroid hemiagenesis";87
"Thyroid hypoplasia";79
"Acro-renal-mandibular syndrome";4
"Levocardia";131
"Acro-renal-ocular syndrome";9
"Ataxia with vitamin E deficiency";49
"Tetrasomy 21";33
"Mosaic trisomy 4";2
"Mosaic trisomy 5";2
"Mosaic trisomy 8";55
"Mosaic trisomy 10";0
"Mosaic trisomy 22";25
"Distal trisomy 1p36";0
"Distal trisomy 2p";0
"Distal trisomy 3p";3
"4p16.3 microduplication syndrome";0
"Distal trisomy 7p";0
"Beckwith-Wiedemann syndrome due to 11p15 microduplication";0
"16p13.3 microduplication syndrome";0
"8p inverted duplication/deletion syndrome";0
"Distal trisomy 2q";3
"3q26 microduplication syndrome";0
"Distal trisomy 4q";0
"Distal trisomy 5q";0
"Distal trisomy 6q";0
"Distal trisomy 8q";0
"Distal trisomy 9q";0
"Distal trisomy 10q";6
"Distal trisomy 11q";2
"Distal trisomy 13q";2
"Distal trisomy 16q";0
"Distal trisomy 20q";0
"Distal trisomy 22q";0
"Non-distal trisomy 9q";0
"7q11.23 microduplication syndrome";3
"Monosomy 22";175
"Distal monosomy 6p";0
"Distal monosomy 7p";0
"Distal monosomy 19p13.3";0
"Non-distal monosomy 7p";0
"Distal monosomy 4q";0
"Kleefstra syndrome due to 9q34 microdeletion";0
"Distal monosomy 10q";2
"Distal monosomy 12q";0
"Distal monosomy 14q";0
"Distal monosomy 20q";0
"Non-distal monosomy 12q";0
"Non-distal monosomy 20q";0
"Recombinant 8 syndrome";7
"Monosomy 13q34";0
"Koolen-De Vries syndrome";5
"Emanuel syndrome";15
"Ring chromosome 2";10
"Ring chromosome 3";10
"Ring chromosome 9";18
"Ring chromosome 11";11
"Ring chromosome 13";37
"Ring chromosome 15";45
"Ring chromosome 16";4
"Maternal uniparental disomy of chromosome 2";0
"Maternal uniparental disomy of chromosome 4";0
"Maternal uniparental disomy of chromosome 6";0
"Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7";0
"Maternal uniparental disomy of chromosome 9";0
"Maternal uniparental disomy of chromosome 14";13
"Maternal uniparental disomy of chromosome 16";0
"Maternal uniparental disomy of chromosome 20";0
"Maternal uniparental disomy of chromosome 21";0
"Maternal uniparental disomy of chromosome 22";0
"Paternal uniparental disomy of chromosome 5";0
"Paternal uniparental disomy of chromosome 6";0
"Paternal uniparental disomy of chromosome 7";0
"Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11";0
"Paternal uniparental disomy of chromosome 20";0
"Paternal uniparental disomy of chromosome 21";0
"X small rings";0
"Cushing disease";436
"Somatotropic adenoma";11
"48,XXXY syndrome";0
"49,XXXXY syndrome";30
"Leydig cell hypoplasia due to complete LH resistance";0
"Leydig cell hypoplasia due to partial LH resistance";0
"Isolated partial vaginal agenesis";0
"Acromegaly";5796
"Polyploidy";2410
"Isochromosome Y";2
"Rare otorhinolaryngological malformation";0
"Paternal uniparental disomy of chromosome 14";0
"Rare gynecologic or obstetric disease";0
"Anorectal malformation";651
"Early-onset schizophrenia";376
"Acromegaly-cutis verticis gyrata-corneal leukoma syndrome";0
"Acromegaloid facial appearance syndrome";6
"Hypertrichosis-acromegaloid facial appearance syndrome";0
"Acromesomelic dysplasia, Hunter-Thompson type";0
"Acromicric dysplasia";29
"Familial paroxysmal ataxia";7
"Hereditary sensory and autonomic neuropathy type 2";12
"Acrorenal syndrome";8
"Distal arthrogryposis";167
"Hereditary continuous muscle fiber activity";0
"Eisenmenger syndrome";386
"Riboflavin transporter deficiency";3
"Solar urticaria";193
"Ligneous conjunctivitis";97
"Fingerprint body myopathy";2
"Glycogen storage disease due to phosphoglycerate mutase deficiency";0
"Rippling muscle disease";59
"Reducing body myopathy";38
"Zebra body myopathy";5
"Congenital muscular dystrophy";1058
"Rigid spine syndrome";114
"Congenital myopathy";518
"Pontocerebellar hypoplasia type 3";4
"Mega-cisterna magna";83
"Pancreatic neuroendocrine tumor";351
"GRFoma";1
"Encephalitis";20015
"PPoma";12
"Insulinoma";3312
"Glucagonoma";646
"VIPoma";367
"Somatostatinoma";293
"Thyroid lymphoma";263
"Carney-Stratakis syndrome";40
"Bronchial endocrine tumor";0
"Thymic neuroendocrine tumor";13
"Familial papillary thyroid carcinoma with renal papillary neoplasia";0
"Cardiogenic shock";7776
"Rare benign ovarian tumor";3
"Furlong syndrome";2
"Bohring-Opitz syndrome";20
"Congenital absence/hypoplasia of fingers excluding thumb, unilateral";0
"Thoracic outlet syndrome";1272
"Kienbock disease";108
"Osgood-Schlatter disease";112
"Panner disease";5
"Sinding-Larsen-Johansson disease";14
"Melanoma of soft tissue";0
"Dural sinus malformation";28
"Hunter-McAlpine craniosynostosis";1
"Persistent placoid maculopathy";10
"ABri amyloidosis";1
"ADan amyloidosis";0
"Postencephalitic parkinsonism";87
"Pellagra";326
"Dementia pugilistica";76
"Parkinsonism with dementia of Guadeloupe";0
"Robinow syndrome";101
"Renal hypoplasia, unilateral";0
"Renal hypoplasia, bilateral";0
"Unilateral multicystic dysplastic kidney";61
"Bilateral multicystic dysplastic kidney";4
"Multiloculated renal cyst";3
"Renal tubular dysgenesis due to twin-twin transfusion";0
"Drug-related renal tubular dysgenesis";0
"Renal tubular dysgenesis of genetic origin";0
"Adams-Oliver syndrome";106
"Ivemark syndrome";45
"Steroid-sensitive nephrotic syndrome without renal biopsy";0
"Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy";0
"Congenital and infantile nephrotic syndrome";0
"Idiopathic membranous glomerulonephritis";103
"Pauci-immune glomerulonephritis with ANCA";0
"Pauci-immune glomerulonephritis without ANCA";0
"Non-amyloid fibrillary glomerulopathy";0
"Immunotactoid glomerulopathy";84
"Pseudohypoparathyroidism";895
"Congenital renal artery stenosis";3
"Adenine phosphoribosyltransferase deficiency";68
"Maternal uniparental disomy of chromosome 13";0
"17q11 microdeletion syndrome";0
"Adrenomyodystrophy";1
"ADULT syndrome";33
"Peripheral resistance to thyroid hormones";0
"Rare cardiac disease";12
"Rare gastroenterologic disease";0
"Gastroduodenal malformation";0
"Intestinal malformation";22
"Rare respiratory disease";3
"Respiratory or thoracic malformation";0
"Rare surgical thoracic disease";0
"Rare surgical cardiac disease";0
"Rare eye disease";7
"Rare endocrine disease";9
"Rare hematologic disease";13
"Autosomal recessive spastic ataxia of Charlevoix-Saguenay";93
"Absence of the pulmonary artery";22
"Rare immune disease";0
"Rare neurologic disease";12
"Infectious disease of the nervous system";0
"Rare headache";40
"Rare systemic or rheumatologic disease";0
"Rare odontologic disease";0
"Rare disease with odontological manifestation";0
"Rare circulatory system disease";0
"Rare disease in anaesthesiology";0
"Rare neurologic disease with psychiatric involvement";0
"Rare otorhinolaryngologic disease";0
"Cranial malformation";19
"Digestive tract malformation";4
"Visceral malformation of the liver, biliary tract, pancreas or spleen";0
"Diaphragmatic or abdominal wall malformation";0
"Central nervous system malformation";60
"Respiratory or mediastinal malformation";0
"Rare infertility";0
"Rare male infertility";0
"Rare female infertility";0
"Rare allergic disease";4
"Rare allergic respiratory disease";0
"Rare genetic disease";336
"Rare genetic cardiac disease";0
"Rare genetic renal disease";0
"Rare tumor";4914
"Rare urinary tract tumor";0
"Rare digestive tumor";0
"Rare respiratory tumor";0
"Rare otorhinolaryngologic tumor";0
"Rare nervous system tumor";0
"Rare gynecological tumor";5
"Rare surgical neurologic disease";0
"Rare disease in plastic and reconstructive surgery";0
"Rare disease in surgical orthopedic";0
"Autosomal dominant spinocerebellar ataxia due to a polyglutamine anomaly";0
"Autosomal dominant spinocerebellar ataxia due to a channelopathy";0
"Autosomal dominant spinocerebellar ataxia due to repeat expansions that do not encode polyglutamine";0
"Autosomal dominant spinocerebellar ataxia due to a point mutation";0
"Unclassified autosomal dominant spinocerebellar ataxia";0
"Gonadal dysgenesis of gynecological interest";0
"46,XX disorder of sex development induced by androgens excess";0
"46,XY disorder of sex development";32
"46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue";0
"Syndrome with 46,XY disorder of sex development";0
"Autosomal recessive congenital cerebellar ataxia";3
"Autosomal recessive metabolic cerebellar ataxia";0
"Autosomal recessive cerebellar ataxia due to a DNA repair defect";0
"Autosomal recessive degenerative and progressive cerebellar ataxia";0
"Autosomal recessive syndromic cerebellar ataxia";0
"Internal carotid agenesis";6
"Pore-loop channelopathy";0
"Channelopathy due to an inwardly rectifying potassium channel defect";0
"Channelopathy due to a voltage-gated potassium channel defect";0
"Channelopathy due to a transient receptor potential channel defect";0
"Channelopathy due to cyclic nucleotide-gated ion channels";0
"Channelopathy due to a calcium-activated potassium channel defect";0
"Channelopathy due to a voltage-gated sodium channel defect";0
"Channelopathy due to a voltage-gated calcium channel defect";0
"Non-pore-loop channelopathy";0
"Channelopathy due to an epithelial sodium channel defect";0
"Channelopathy due to a skeletal muscle sarcoplasmic reticulum calcium release channel defect";0
"Channelopathy due to a cardiac muscle sarcoplasmic reticulum calcium release channel defect";0
"Non-pore-loop channelopathy due to epithelial Cl- channel CFTR anomaly";0
"Non-pore-loop channelopathy due to epithelial Cl- channel bestrophin anomaly";0
"Non-pore-loop channelopathy due to Cl- channel skeletal muscle Clc1 anomaly";0
"Non-pore-loop channelopathy due to Cl- channel Clc2 anomaly";0
"Non-pore-loop channelopathy due to Cl- transporter kidney Clc5 anomaly";0
"Non-pore-loop channelopathy due to Cl- transporter Clc7anomaly";0
"Non-pore-loop channelopathy due to Cl- channels kidney CLCKA and CLCKB anomaly";0
"Non-pore-loop channelopathy due to Cl- channel barttin anomaly";0
"Cys-loop receptor channelopathy";0
"Channelopathy due to a neuronal glycine receptor defect";0
"Channelopathy due to a neuronal kidney GABA receptor defect";0
"Channelopathy due to a skeletal muscle acetylcholine receptor defect";0
"Channelopathy due to a neuronal acetylcholine receptor defect";0
"Autosomal anomaly";8
"Autosomal trisomy";136
"Total autosomal trisomy";0
"Partial autosomal trisomy/tetrasomy";0
"Total autosomal monosomy";0
"Partial autosomal monosomy";0
"Autosomal uniparental disomy";0
"Uniparental disomy of maternal origin";0
"Uniparental disomy of paternal origin";0
"Gonosome anomaly";2
"Gonosome number anomaly";0
"Gonosome structural anomaly";0
"Chromosome Y structural anomaly";0
"Chromosome X structural anomaly";0
"Malformation syndrome with hamartosis";0
"Pulmonary valve agenesis";8
"Combined dystonia";10
"Ehlers-Danlos syndrome";1939
"Infectious encephalitis";113
"Postinfectious encephalitis";30
"Chronic encephalitis";86
"Neonatal epilepsy syndrome";0
"Infantile epilepsy syndrome";9
"Childhood-onset epilepsy syndrome";4
"Adolescent-onset epilepsy syndrome";0
"Progressive myoclonic epilepsy";186
"Genetic non-syndromic obesity";0
"Myeloproliferative neoplasm";650
"Myelodysplastic/myeloproliferative disease";19
"Acute myeloid leukemia with recurrent genetic anomaly";0
"Plasma cell tumor";101
"Histiocytic and dendritic cell tumor";0
"Macrophage or histiocytic tumor";0
"Dendritic cell tumor";113
"Immunodeficiency-associated lymphoproliferative disease";0
"Lymphoproliferative disease associated with primary immune disease";0
"Mastocytosis";2145
"Hodgkin lymphoma";10791
"Ichthyosis associated with a cornified cell envelope and epidermal lipid metabolism anomaly";0
"Ichthyosis associated with a protein catabolism anomaly";0
"Ichthyosis associated with a peroxisomal disease";0
"Ichthyosis associated with a nucleotide excision repair anomaly";0
"Testicular regression syndrome";26
"Idiopathic interstitial pneumonia";531
"Laminopathy";148
"Genetic lipodystrophy";0
"Familial partial lipodystrophy";232
"Acquired lipodystrophy";32
"Male infertility due to gonadal dysgenesis";0
"Male infertility due to obstructive azoospermia";0
"Rare idiopathic male infertility";0
"Autosomal dominant isolated diffuse palmoplantar keratoderma";0
"Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature";0
"Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature";0
"Autosomal recessive isolated diffuse palmoplantar keratoderma";0
"Autosomal recessive disease with focal palmoplantar keratoderma as a major feature";0
"Constitutional anemia due to iron metabolism disorder";0
"Constitutional sideroblastic anemia";0
"Rare hemolytic anemia";9
"Rare constitutional hemolytic anemia due to a red cell membrane anomaly";0
"Hereditary stomatocytosis";105
"Constitutional hemolytic anemia due to acanthocytosis";0
"Rare constitutional hemolytic anemia due to an enzyme disorder";0
"Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies";0
"Hemolytic anemia due to a disorder of glycolytic enzymes";0
"Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder";0
"Autoimmune hemolytic anemia";1674
"Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder";0
"Pulmonary agenesis";117
"Constitutional megaloblastic anemia due to folate metabolism disorder";0
"Vitamin B12- and folate-independent constitutional megaloblastic anemia";0
"Red cell aplasia";1351
"Polycythemia";5940
"Secondary polycythemia";174
"Rare coagulation disorder";44
"Hereditary combined deficiency of vitamin K-dependent clotting factors";0
"Alpha granule disease";0
"Dense granule disease";0
"X-linked syndromic intellectual disability";0
"Congenital muscular dystrophy due to extracellular matrix protein anomaly";0
"Congenital muscular dystrophy due to glycosyltransferase anomaly";0
"Congenital muscular dystrophy due to proteins of the endoplasmic reticulum anomaly";0
"Skeletal muscle disease";125
"Muscular dystrophy";12019
"Idiopathic inflammatory myopathy";296
"Metabolic myopathy";234
"Neuromuscular junction disease";12
"Acquired neuromuscular junction disease";0
"Genetic neuromuscular junction disease";0
"Rare peripheral neuropathy";6
"Genetic peripheral neuropathy";0
"Motor neuron disease";4622
"Genetic motor neuron disease";0
"Acquired motor neuron disease";1
"Malformation of the cerebellar vermis";0
"Malformation of the cerebellar hemispheres";0
"Cranial nerve and nuclear aplasia";0
"Posterior fossa malformation";34
"Cystic malformation of the posterior fossa";0
"Non-syndromic pontocerebellar hypoplasia";0
"Tauopathy";853
"Tauopathy with non-Alzheimer non-Pick frontal lobe degeneration";0
"Tauopathy with a major tau triplet at 60, 64 and 69 kDa";0
"Tauopathy with a major tau doublet at 64 and 69 kDa";0
"Tauopathy with a major tau doublet at 60 and 64 kDa";0
"Tauopathy with a major tau at 60 kDa";0
"Neurodegenerative disease with dementia";0
"Frontotemporal degeneration with dementia";0
"Ataxia with dementia";0
"Early-onset ataxia with dementia";0
"Late-onset ataxia with dementia";0
"Infectious disease with dementia";0
"Metabolic disease with dementia";0
"Cerebral lipidosis with dementia";0
"Cerebrovascular dementia";70
"Developmental defect of the eye";0
"Major induction processes eye anomaly";0
"Anophthalmia-microphthalmia syndrome";0
"Syndromic aniridia";0
"Rare eye disease due to a differentiation anomaly";0
"Rare palpebral, lacrimal system and conjunctival disease";0
"Rare palpebral disease";0
"Eyelid malformation";26
"Cryptophthalmia";10
"Microblepharon-ablephara syndrome";0
"Eyelid border anomaly";0
"Syndromic ankyloblepharon";0
"Syndromic palpebral coloboma";0
"Eyelids malposition disorder";0
"Congenital entropion";27
"Secondary entropion";0
"Congenital ectropion";29
"Secondary ectropion";9
"Canthal anomaly";3
"Epicanthal fold";61
"Syndromic epicanthus";0
"Telecanthus";296
"Malposition of external canthus";0
"Kinetic eyelid anomaly";0
"Rare disorder with ptosis";0
"Congenital upper palpebral retraction";0
"Palpebral tumor";9
"Palpebral epidermal tumor";0
"Benign tumor of palpebral epidermis";0
"Precancerous lesion of palpebral epidermis";0
"Malignant tumor of palpebral epidermis";0
"Palpebral sebaceous gland tumor";0
"Pigmented palpebral tumor";0
"Palpebral lentiginosis";0
"Palpebral nevus";0
"Palpebral piliary tumor";0
"Mesenchymatous palpebral tumor";0
"Palpebral tumor with a vascular malformation";0
"Neurogenic palpebral tumor";0
"Rare eyebrow/eyelashes anomaly";0
"Eyebrow/eyelashes hypertrichosis";0
"Eyebrow hypertrophy";0
"Eyelashes hypertrophy";0
"Congenital absence of the eyebrow/eyelashes";0
"Eyebrow/eyelashes structural anomaly";0
"Eyebrow/eyelashes distichiasis";0
"Eyebrow/eyelashes pigmentation anomaly";0
"Rare lacrimal system disease";0
"Secretory apparatus of the lacrimal system anomaly";0
"Congenital alacrima";9
"Excretory apparatus of the lacrimal system anomaly";0
"Syndromic orbital border hypoplasia";0
"Anomaly of the secretory and excretory apparatus of the lacrimal system";0
"EEC syndrome and related syndrome";0
"Rare conjunctival disease";0
"Conjunctival vascular anomaly";0
"Conjunctival hemangioma or hemolymphangioma";0
"Conjunctival telangiectasia";11
"Conjunctival lymphangiectasia";8
"Pigmented conjunctival lesion";8
"Conjunctival tumor";75
"Bulbar conjunctival dermoid or conjunctival dermolipoma";0
"Rare refraction anomaly";0
"Rare isolated myopia";0
"Syndromic myopia";0
"Rare hyperopia and astigmatism";0
"Syndromic hyperopia";0
"Syndromic keratoconus";0
"Superficial corneal dystrophy";2
"Stromal corneal dystrophy";16
"Posterior corneal dystrophy";3
"Syndromic corneal dystrophy";0
"Secondary dysgenetic glaucoma";0
"Glaucoma associated with neural crest cell migration anomaly";0
"Goniodysgenesis";58
"Iridogoniodysgenesis";28
"Corneogoniodysgenesis";0
"Corneoiridogoniodysgenesis";0
"Secondary glaucoma due to a proliferation and differentiation anomaly";0
"Rare disease with glaucoma as a major feature";0
"Lens and zonula anomaly";0
"Rare cataract";0
"Syndromic cataract";7
"Chromosomal anomaly with cataract";0
"Systemic disease with cataract";0
"Cataract associated with a metabolic disease";0
"Cerebral disease with cataract";0
"Renal disease with cataract";0
"Cardiac disease with cataract";0
"Musculoskeletal disease with cataract";0
"Dentocutaneous disease with cataract";0
"Craniofacial anomaly with cataract";0
"Lens size anomaly";0
"Lens position anomaly";0
"Lens shape anomaly";0
"Genetic vitreous-retinal disease";0
"Color-vision disease";0
"Syndromic retinitis pigmentosa";17
"Unclassified familial retinal dystrophy";0
"Genetic macular dystrophy";0
"Colobomatous and areolar dystrophy";0
"Unclassified primitive or secondary maculopathy";0
"Disease predisposing to age-related macular degeneration";0
"Vitreoretinopathy";2445
"Congenital vitreoretinal dysplasia";0
"Vitreoretinal degeneration";85
"Hereditary optic neuropathy";1010
"Autosomal dominant optic atrophy";246
"Autosomal dominant optic atrophy, classic form";0
"Autosomal recessive isolated optic atrophy";0
"Rare strabismus and restriction syndrome";0
"Essential strabismus";0
"Syndrome with a symptomatic strabismus";0
"Craniostenosis associated with a strabismus";0
"Oculomotor palsy";345
"Congenital trochlear nerve palsy";4
"Supranuclear oculomotor palsy";4
"Oculomotor apraxia or related oculomotor disease";0
"Myopathy with eye involvement";0
"Myasthenic syndrome with eye involvement";0
"Abnormal eye movements";256
"Nervous system anomaly with eye involvement";0
"Spinocerebellar ataxia with oculomotor anomaly";0
"Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly";0
"Mitochondrial disease with eye involvement";0
"Genodermatosis with ocular features";0
"Genetic keratinization disorder associated with ocular features";0
"Ichthyosis associated with ocular features";0
"Syndromic ichthyosis associated with ocular features";0
"Pigmentation disorder with eye involvement";0
"Phakomatosis with eye involvement";0
"Connective tissue disease with eye involvement";0
"Disease with potential neoplastic degeneration associated with ocular features";0
"Onycho-patellar syndrome with eye involvement";0
"Oculocutaneous or ocular albinism";0
"Pigmentation disorder with eye involvement, excluding albinism";0
"Ectodermal malformation syndrome associated with ocular features";0
"Metabolic disease associated with ocular features";0
"Metabolic disease with corneal opacity";0
"Metabolic disease with cataract";0
"Metabolic disease with pigmentary retinitis";0
"Metabolic disease with macular cherry-red spot";0
"Uveitis";11038
"Heart position anomaly";0
"Transposition of the great arteries and conotruncal cardiac anomaly";0
"Aortic malformation";12
"Pulmonary artery or pulmonary branch anomaly";0
"Atrioventricular valve anomaly";0
"Congenital tricuspid malformation";0
"Atrioventricular canal defect";160
"Hypoplastic right heart syndrome";29
"Congenital anomaly of the great arteries";0
"Ascending aorta anomaly";0
"Atrial defect and interatrial communication";0
"Congenital pulmonary veins anomaly";0
"Congenital arteriovenous fistula";70
"Noonan syndrome and Noonan-related syndrome";0
"Genetic neurological channelopathy";0
"Genetic neurological muscular channelopathy";0
"Neurological muscular channelopathy due to a genetic sodium channel defect";0
"Neurological muscular channelopathy due to a genetic chloride channel defect";0
"Neurological muscular channelopathy due to a genetic calcium channel defect";0
"Neurological muscular channelopathy due to a genetic potassium channel defect";0
"Neurological muscular channelopathy due to a genetic ryanodine receptor defect";0
"Genetic neurological channelopathy of the central nervous system";0
"Neurological channelopathy of the central nervous system due to a genetic sodium channel defect";0
"Neurological channelopathy of the central nervous system due to a genetic calcium channel defect";0
"Neurological channelopathy of the central nervous system due to a genetic potassium channel defect";0
"Neurological channelopathy of the central nervous system due to a genetic glycine receptor defect";0
"Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect";0
"Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect";0
"Autoimmune neurological channelopathy";0
"Autoimmune neurological channelopathy due to a p/q-type voltage gated calcium channel defect";0
"Autoimmune neurological channelopathy due to a potassium channel defect";0
"Autoimmune neurological channelopathy due to an acetylcholine receptor subunits defect";0
"Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15";0
"Spinocerebellar ataxia type 1";293
"Spinocerebellar ataxia type 2";268
"Spinocerebellar ataxia type 3";304
"Spinocerebellar ataxia type 6";197
"Spinocerebellar ataxia type 17";47
"Spinocerebellar ataxia type 8";42
"Spinocerebellar ataxia type 10";43
"Spinocerebellar ataxia type 12";22
"Spinocerebellar ataxia type 14";32
"Spinocerebellar ataxia type 27";0
"Spinocerebellar ataxia type 4";9
"Spinocerebellar ataxia type 5";23
"Spinocerebellar ataxia type 11";10
"Spinocerebellar ataxia type 13";12
"Spinocerebellar ataxia type 15/16";0
"Spinocerebellar ataxia type 16";2
"Spinocerebellar ataxia type 18";0
"Spinocerebellar ataxia type 19/22";2
"Spinocerebellar ataxia type 21";0
"Autosomal dominant nocturnal frontal lobe epilepsy";161
"Pitt-Rogers-Danks syndrome";17
"Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16";0
"Prader-Willi syndrome due to paternal 15q11q13 deletion";0
"Angelman syndrome due to maternal 15q11q13 deletion";0
"Angelman syndrome due to paternal uniparental disomy of chromosome 15";0
"Isochromosomy Yp";0
"Isochromosomy Yq";0
"Absent tibia-polydactyly syndrome";0
"Primary dystonia, DYT4 type";0
"Primary dystonia, DYT6 type";0
"Primary dystonia, DYT13 type";0
"Autosomal dominant dopa-responsive dystonia";12
"Paroxysmal kinesigenic dyskinesia";141
"Paroxysmal non-kinesigenic dyskinesia";24
"Paroxysmal exertion-induced dyskinesia";17
"Paroxysmal hypnogenic dyskinesia";5
"Hypohidrotic ectodermal dysplasia with immunodeficiency";0
"Benign childhood occipital epilepsy, Panayiotopoulos type";0
"Benign childhood occipital epilepsy, Gastaut type";0
"Landau-Kleffner syndrome";357
"Familial temporal epilepsy";2
"Familial focal epilepsy with variable foci";9
"Chronic myelomonocytic leukemia";1067
"Atypical chronic myeloid leukemia";84
"Unclassified myelodysplastic/myeloproliferative disease";0
"Refractory anemia";2168
"Unclassified myelodysplastic syndrome";0
"Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)";0
"Acute myeloid leukemia with 11q23 abnormalities";0
"Acute myeloid leukemia with minimal differentiation";4
"Acute myeloblastic leukemia without maturation";5
"Acute myeloblastic leukemia with maturation";15
"Acute undifferentiated leukemia";157
"Bilineal acute leukemia";4
"Acute biphenotypic leukemia";51
"Primary mediastinal large B-cell lymphoma";166
"Intravascular large B-cell lymphoma";225
"Anaplastic large cell lymphoma";2105
"Lymphomatoid papulosis";570
"Classic Hodgkin lymphoma, nodular sclerosis type";0
"Classic Hodgkin lymphoma, mixed cellularity type";0
"Classic Hodgkin lymphoma, lymphocyte-rich type";0
"Classic Hodgkin lymphoma, lymphocyte-depleted type";0
"Indolent systemic mastocytosis";90
"Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease";0
"Aggressive systemic mastocytosis";61
"Mast cell leukemia";220
"Desquamative interstitial pneumonia";236
"Autosomal dominant Emery-Dreifuss muscular dystrophy";48
"Autosomal recessive Emery-Dreifuss muscular dystrophy";3
"Charcot-Marie-Tooth disease type 2B1";0
"Primary ciliary dyskinesia, Kartagener type";0
"X-linked Emery-Dreifuss muscular dystrophy";66
"Common hereditary elliptocytosis";5
"Homozygous hereditary elliptocytosis";6
"Hereditary pyropoikilocytosis";75
"Southeast Asian ovalocytosis";72
"Congenital dyserythropoietic anemia type I";44
"Congenital dyserythropoietic anemia type III";10
"Transient erythroblastopenia of childhood";75
"Adult pure red cell aplasia";4
"Congenital dyserythropoietic anemia type II";79
"Hemophilia A";10340
"Hemophilia B";2667
"Familial afibrinogenemia";0
"Familial dysfibrinogenemia";3
"Bleeding diathesis due to glycoprotein VI deficiency";0
"Bleeding diathesis due to integrin alpha2-beta1 deficiency";0
"X-linked complex spastic paraplegia";0
"Bilateral perisylvian polymicrogyria";61
"Early-onset X-linked optic atrophy";0
"Periventricular nodular heterotopia";207
"Congenital muscular dystrophy type 1B";0
"Congenital muscular dystrophy type 1D";6
"Becker muscular dystrophy";1120
"Duchenne muscular dystrophy";5517
"Oculopharyngodistal myopathy";16
"Hypoglossia-hypodactyly syndrome";8
"Amish nemaline myopathy";7
"Congenital myopathy with excess of thin filaments";0
"Congenital multicore myopathy with external ophthalmoplegia";0
"Dorfman-Chanarin disease";0
"Neutral lipid storage myopathy";2
"Desminopathy";59
"Alpha-crystallinopathy";3
"Distal myotilinopathy";0
"Late-onset distal myopathy, Markesbery-Griggs type";0
"Postsynaptic congenital myasthenic syndromes";2
"Presynaptic congenital myasthenic syndromes";1
"Synaptic congenital myasthenic syndromes";0
"Acute inflammatory demyelinating polyradiculoneuropathy";124
"Acute motor and sensory axonal neuropathy";34
"Acute motor axonal neuropathy";227
"Miller-Fisher syndrome";615
"Spinal muscular atrophy with respiratory distress type 1";30
"Blake pouch cyst";4
"Multiple system atrophy, parkinsonian type";0
"Huntington disease-like 2";18
"Colobomatous microphthalmia";30
"Von Hippel anomaly";0
"Coloboma of choroid and retina";0
"Coloboma of eye lens";0
"Coloboma of iris";16
"Coloboma of macula";3
"Coloboma of eyelid";0
"Coloboma of optic disc";1
"Congenital symblepharon";4
"Complete cryptophthalmia";0
"Partial cryptophthalmia";0
"Inverse Marcus-Gunn phenomenon";5
"Meesmann corneal dystrophy";12
"Lisch epithelial corneal dystrophy";3
"Microcystic corneal dystrophy";4
"Gelatinous drop-like corneal dystrophy";59
"Honey-droplet corneal dystrophy";0
"Subepithelial mucinous corneal dystrophy";1
"Thiel-Behnke corneal dystrophy";23
"Reis-Bücklers corneal dystrophy";43
"Granular corneal dystrophy type I";5
"Granular corneal dystrophy type II";13
"Lattice corneal dystrophy type I";36
"Schnyder corneal dystrophy";20
"Central discoid corneal dystrophy";2
"Macular corneal dystrophy";138
"Fleck corneal dystrophy";10
"Posterior amorphous corneal dystrophy";10
"Central cloudy dystrophy of François";2
"Posterior polymorphous corneal dystrophy";93
"Fuchs endothelial corneal dystrophy";143
"Congenital hereditary endothelial dystrophy type I";0
"Congenital glaucoma";940
"Juvenile glaucoma";167
"Axenfeld anomaly";13
"Chandler syndrome";13
"Cogan-Reese syndrome";41
"Essential iris atrophy";51
"Pulverulent cataract";31
"Early-onset sutural cataract";0
"Early-onset anterior polar cataract";3
"Cerulean cataract";14
"Coralliform cataract";15
"Early-onset nuclear cataract";0
"Early-onset partial cataract";0
"Early-onset posterior polar cataract";0
"Total early-onset cataract";0
"Early-onset zonular cataract";0
"Autosomal dominant cerebellar ataxia";251
"Agnathia-holoprosencephaly-situs inversus syndrome";0
"Adult-onset foveomacular vitelliform dystrophy";47
"Butterfly-shaped pigment dystrophy";11
"Reticular dystrophy of the retinal pigment epithelium";0
"Multifocal pattern dystrophy simulating fundus flavimaculatus";0
"Fundus pulverulentus";6
"Spastic paraplegia type 7";10
"X-linked Charcot-Marie-Tooth disease type 5";0
"Spastic paraplegia type 2";27
"Niemann-Pick disease type E";0
"Adult-onset autosomal dominant leukodystrophy";29
"Congenitally uncorrected transposition of the great arteries with coarctation";0
"Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis";0
"Double outlet right ventricle with subaortic ventricular septal defect";6
"Double outlet right ventricle with subpulmonary ventricular septal defect";26
"Double outlet right ventricle with non-committed subpulmonary ventricular septal defect";0
"Double outlet right ventricle with doubly committed ventricular septal defect";0
"Pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome";0
"Pulmonary artery coming from patent ductus arteriosus";0
"Pulmonary artery coming from the aorta";0
"Discrete fixed membranous subaortic stenosis";0
"Discrete fibromuscular subaortic stenosis";0
"Tunnel subaortic stenosis";15
"Valvular pulmonary stenosis";143
"Anomaly of the tricuspid valve chordae";0
"Parachute tricuspid valve";7
"Congenital mitral stenosis";95
"Hypoplasia of the mitral valve annulus";0
"Congenital supravalvular mitral ring";0
"Congenital unguarded mitral orifice";0
"Accessory mitral valve tissue";57
"Mitral valve agenesis";0
"Shone complex";17
"Straddling and/or overriding mitral valve";0
"Complete atrioventricular canal-left heart obstruction syndrome";0
"Complete atrioventricular canal-ventricle hypoplasia syndrome";0
"Complete atrioventricular canal-tetralogy of Fallot syndrome";0
"Univentricular heart with single atrio-ventricular valve";0
"Aorto-right ventricular tunnel";5
"Aorto-left ventricular tunnel";22
"Congenital patent ductus arteriosus aneurysm";0
"Encircling double aortic arch";0
"Persistent fifth aortic arch";38
"Kommerell diverticulum";48
"Neuhauser anomaly";0
"Cervical aortic arch";80
"Right aortic arch";619
"Dysphagia lusoria";62
"Pulmonary artery hypoplasia";58
"Pulmonary branch stenosis";27
"Coronary artery intramyocardial course";0
"Aortopulmonary coronary arterial course";0
"Stenosis or atrophy of the coronary ostium";0
"Intramural coronary arterial course";0
"Abnormal number of coronary ostia";0
"Malposition of the coronary ostium";0
"Interventricular septum aneurysm";2
"Laubry-Pezzi syndrome";8
"Gerbode defect";46
"Cor triatriatum dexter";54
"Cor triatriatum sinister";70
"PAGOD syndrome";4
"Juxtaposition of the atrial appendages";0
"Ectasia of the right atrial appendage";0
"Ectasia of the left appendage";0
"Atrial septal defect, ostium secundum type";1
"Atrial septal defect, coronary sinus type";0
"Atrial septal defect, sinus venosus type";0
"Atrial septal defect, ostium primum type";0
"Atrial septal aneurysm";514
"Patent foramen ovale";3186
"Persistent left superior vena cava connecting to the left-sided atrium";0
"Right superior vena cava connecting to left-sided atrium";0
"Left superior vena cava persisting to left-sided atrium";0
"Absence of innominate vein";0
"Subaortic course of innominate vein";0
"Agenesis of the superior vena cava";0
"Coronary sinus stenosis";8
"Coronary sinus atresia";4
"Right inferior vena cava connecting to left-sided atrium";0
"Persistent eustachian valve";2
"Azygos continuation of the inferior vena cava";32
"Congenital stenosis of the inferior vena cava";0
"Inferior vena cava interruption";48
"Congenital partial pulmonary venous return anomaly";0
"Congenital total pulmonary venous return anomaly";0
"Congenital complete agenesis of pericardium";0
"Congenital partial agenesis of pericardium";0
"Pleuro-pericardial cyst";5
"6-phosphogluconate dehydrogenase deficiency";1
"Hemolytic anemia due to erythrocyte adenosine deaminase overproduction";0
"Unstable hemoglobin disease";4
"Lymphedema-posterior choanal atresia syndrome";0
"Acquired von Willebrand syndrome";206
"Epiblepharon";84
"Tarsal kink syndrome";4
"Isolated congenital ectropion";0
"Euryblepharon";22
"Congenital eyelid retraction";4
"Isolated distichiasis";0
"Kandori fleck retina";0
"Monosomy X";335
"Mosaic monosomy X";9
"Paternal uniparental disomy of chromosome 13";0
"48,XYYY syndrome";0
"49,XYYYY syndrome";0
"Familial medullary thyroid carcinoma";335
"Fetal akinesia deformation sequence";57
"Pituitary adenoma";5275
"Turner syndrome due to structural X chromosome anomalies";0
"Complete androgen insensitivity syndrome";272
"X-linked fetal akinesia syndrome";0
"Spondyloepimetaphyseal dysplasia, Handigodu type";0
"Dappled diaphyseal dysplasia";0
"Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria";0
"Cheirospondyloenchondromatosis";1
"Fibrocalculous pancreatopathy";7
"Primary dystonia, DYT2 type";0
"Atlantoaxial subluxation";392
"Fried's tooth and nail syndrome";0
"Dermotrichic syndrome";1
"Alveolar synechia-ankyloblepharon-ectodermal dysplasia syndrome";0
"Mesial temporal lobe epilepsy with hippocampal sclerosis";79
"Progeria-associated arthropathy";0
"MASS syndrome";54
"Leber plus disease";0
"Pituitary gigantism";45
"Isolated sulfite oxidase deficiency";27
"Sulfite oxidase deficiency due to molybdenum cofactor deficiency";0
"Myotonia fluctuans";9
"Myotonia permanens";6
"Acetazolamide-responsive myotonia";0
"Rare familial disorder with hypertrophic cardiomyopathy";0
"King-Denborough syndrome";10
"Amish lethal microcephaly";3
"Typhoid";4459
"Pontiac fever";97
"Kostmann syndrome";54
"Atypical progressive supranuclear palsy syndrome";0
"Alveolar rhabdomyosarcoma";846
"Embryonal rhabdomyosarcoma";1229
"Familial hyperreninemic hypoaldosteronism type 1";0
"Familial hyperreninemic hypoaldosteronism type 2";0
"Bifid uvula";148
"Cleft velum";5
"Mosaic trisomy 9";32
"Achalasia-alacrimia syndrome";0
"Dentin dysplasia type I";22
"Dentin dysplasia type II";16
"Dentin dysplasia-sclerotic bones syndrome";0
"Subcortical band heterotopia";99
"Anodontia";2142
"Oligodontia";370
"Albinism-deafness syndrome";5
"Hemimegalencephaly";374
"Haddad syndrome";22
"Oculootodental syndrome";0
"PEHO-like syndrome";8
"Familial porencephaly";10
"Neuronal intestinal pseudoobstruction";6
"LIG4 syndrome";21
"Non-polyposis Turcot syndrome";0
"Turcot syndrome with polyposis";0
"Familial gestational hyperthyroidism";3
"Lassa fever";399
"Nipah virus disease";6
"Marburg hemorrhagic fever";40
"Crimean-Congo hemorrhagic fever";580
"Dengue fever";2558
"Yellow fever";1965
"Resistance to thyrotropin-releasing hormone syndrome";0
"Leukocyte adhesion deficiency type I";24
"Leukocyte adhesion deficiency type II";20
"Leukocyte adhesion deficiency type III";12
"Genetic recurrent myoglobinuria";0
"Autosomal dominant myoglobinuria";0
"Glycogen storage disease due to muscle beta-enolase deficiency";0
"Ravine syndrome";0
"Ovarioleukodystrophy";9
"Cree leukoencephalopathy";7
"Primary syringomyelia";4
"Secondary syringomyelia";19
"Idiopathic syringomyelia";40
"Precursor B-cell acute lymphoblastic leukemia";149
"Precursor T-cell acute lymphoblastic leukemia";21
"Spermatocytic seminoma";157
"Thymoma";5310
"Thymic carcinoma";757
"Thymic neuroendocrine carcinoma";24
"Letterer-Siwe disease";120
"Eosinophilic granuloma";1182
"Hashimoto-Pritzker syndrome";6
"Hand-Schüller-Christian disease";120
"Adult pulmonary Langerhans cell histiocytosis";10
"Ehlers-Danlos syndrome type 7A";0
"Ehlers-Danlos syndrome type 7B";0
"Familial parathyroid adenoma";0
"Primary parathyroid hyperplasia";46
"Familial isolated hyperparathyroidism";65
"Hyperparathyroidism-jaw tumor syndrome";70
"Permanent neonatal diabetes mellitus";118
"Transient neonatal diabetes mellitus";116
"Acute megakaryoblastic leukemia in Down syndrome";0
"Cushing syndrome due to ectopic ACTH secretion";0
"ACTH-dependent Cushing syndrome";19
"ACTH-independent Cushing syndrome";23
"Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency";0
"Ermine phenotype";2
"Long chain acyl-CoA dehydrogenase deficiency";121
"Acyl-CoA dehydrogenase 9 deficiency";0
"Spirillary rat-bite fever";0
"Streptobacillary rat-bite fever";5
"Farmer's lung disease";112
"House allergic alveolitis";0
"Pigeon-breeder lung disease";0
"Occupational allergic alveolitis";3
"Malignant dysgerminomatous germ cell tumor of ovary";0
"Extragonadal non-dysgerminomatous germ cell tumor";0
"Gynandroblastoma";37
"Maligant granulosa cell tumor of ovary";0
"Malignant Sertoli-Leydig cell tumor of ovary";0
"Theca steroid-producing cell malignant tumor of ovary, not further specified";0
"Streptococcal toxic-shock syndrome";420
"Staphylococcal toxic-shock syndrome";117
"Acute graft versus host disease";3292
"Chronic graft versus host disease";2613
"Ocular pemphigoid";64
"Invasive mole";310
"Gestational choriocarcinoma";248
"Hydatidiform mole";2748
"Placental site trophoblastic tumor";381
"Secondary pulmonary hemosiderosis";1
"Idiopathic pulmonary hemosiderosis";172
"Heiner syndrome";4
"Pleuropulmonary blastoma type 1";0
"Pleuropulmonary blastoma type 2";0
"Pleuropulmonary blastoma type 3";0
"Autosomal dominant Charcot-Marie-Tooth disease type 2B";0
"Autosomal dominant Charcot-Marie-Tooth disease type 2C";0
"Autosomal dominant Charcot-Marie-Tooth disease type 2D";0
"Autosomal dominant Charcot-Marie-Tooth disease type 2E";0
"Autosomal dominant Charcot-Marie-Tooth disease type 2F";0
"Autosomal dominant Charcot-Marie-Tooth disease type 2G";0
"Autosomal dominant Charcot-Marie-Tooth disease type 2I";0
"Autosomal dominant Charcot-Marie-Tooth disease type 2J";0
"Autosomal dominant Charcot-Marie-Tooth disease type 2K";0
"Autosomal dominant Charcot-Marie-Tooth disease type 2L";0
"Autosomal dominant Charcot-Marie-Tooth disease type 2A1";0
"Autosomal dominant Charcot-Marie-Tooth disease type 2A2";0
"Charcot-Marie-Tooth disease type 4A";15
"Charcot-Marie-Tooth disease type 4C";14
"Charcot-Marie-Tooth disease type 4D";5
"Charcot-Marie-Tooth disease type 4E";0
"Charcot-Marie-Tooth disease type 4F";1
"Charcot-Marie-Tooth disease type 4G";0
"Charcot-Marie-Tooth disease type 4H";4
"Charcot-Marie-Tooth disease type 4B1";10
"Charcot-Marie-Tooth disease type 4B2";0
"Benign recurrent intrahepatic cholestasis type 1";5
"Benign recurrent intrahepatic cholestasis type 2";7
"O'Sullivan-McLeod syndrome";2
"Atypical teratoid rhabdoid tumor";330
"Myxoid/round cell liposarcoma";64
"Pleomorphic liposarcoma";210
"Dedifferentiated liposarcoma";345
"Well-differentiated liposarcoma";536
"Adenocarcinoma of esophagus";675
"Squamous cell carcinoma of esophagus";65
"Klatskin tumor";428
"Apnea of prematurity";297
"Cutaneous myiasis";123
"Intermediate DEND syndrome";6
"Brill-Zinsser disease";18
"Relapsing epidemic typhus";0
"Complex regional pain syndrome type 2";6
"Complex regional pain syndrome type 1";164