Generated Narrative: ValueSet orphanet-rare-diseases

• Include these codes as defined in http://www.orpha.net/ontology/orphanet.owl version 4.3

  Code	Display
  314022	Gastric adenocarcinoma and proximal polyposis of the stomach
  363528	Intellectual disability-strabismus syndrome
  140963	Bilateral microtia-deafness-cleft palate syndrome
  20	3-hydroxy-3-methylglutaric aciduria
  98275	Myelodysplastic/myeloproliferative disease
  99796	Subcortical band heterotopia
  268940	Bilateral polymicrogyria
  1917	Fetal methylmercury syndrome
  772	Infantile Refsum disease
  163693	2p21 microdeletion syndrome
  261501	Atypical Norrie disease due to Xp11.3 microdeletion
  79373	Ectodermal dysplasia syndrome
  578	Mucolipidosis type IV
  96160	Non-distal deletion 12q
  99114	Agenesis of the superior vena cava
  79196	Disorder of the gamma-glutamyl cycle
  521308	Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome
  567546	Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance
  247525	Citrullinemia type I
  90118	Severe early-onset axonal neuropathy due to MFN2 deficiency
  140436	Primary intraosseous venous malformation
  557003	Oculoskeletodental syndrome
  3241	Deafness-craniofacial syndrome
  664	Ornithine transcarbamylase deficiency
  98756	Spinocerebellar ataxia type 2
  90078	Invasive infections due to vancomycin-resistant enterococci
  169110	Immunoglobulin heavy chain deficiency
  959	Acro-renal-ocular syndrome
  141074	External auditory canal aplasia/hypoplasia
  204	Sporadic Creutzfeldt-Jakob disease
  99844	Leukocyte adhesion deficiency type III
  79264	Juvenile neuronal ceroid lipofuscinosis
  36386	Hereditary sensory and autonomic neuropathy type 1
  97345	ABri amyloidosis
  99824	Lassa fever
  228119	Fusariosis
  1802	Ghosal hematodiaphyseal dysplasia
  231736	Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome
  95496	Pituitary stalk interruption syndrome
  55655	Pneumococcal meningitis
  183666	Hyper-IgM syndrome without susceptibility to opportunistic infections
  454	Acquired ichthyosis
  228157	Marburg acute multiple sclerosis
  139583	X-linked hereditary sensory and autonomic neuropathy with deafness
  79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form
  183	Eosinophilic granulomatosis with polyangiitis
  206549	Anoctamin-5-related limb-girdle muscular dystrophy R12
  166421	Orgasm-induced seizures
  280219	Pelizaeus-Merzbacher disease, classic form
  438178	Fatty acyl-CoA reductase 1 deficiency
  48435	Postinfectious vasculitis
  95498	Congenital anomaly of superior vena cava
  269	Facioscapulohumeral dystrophy
  268936	Isolated arhinencephaly
  96105	Distal duplication 13q
  156	Carnitine palmitoyl transferase 1A deficiency
  352718	Progressive retinal dystrophy due to retinol transport defect
  3304	Fallot complex-intellectual disability-growth delay syndrome
  1556	Cutis marmorata telangiectatica congenita
  2612	Linear nevus sebaceus syndrome
  2306	Isotretinoin-like syndrome
  519406	Thygeson superficial punctate keratitis
  397968	Charcot-Marie-Tooth disease type 2R
  101685	Rare non-syndromic intellectual disability
  180122	Septate uterus
  88621	Ichthyosis-prematurity syndrome
  470	Lysinuric protein intolerance
  352587	Focal epilepsy-intellectual disability-cerebro-cerebellar malformation
  464738	Basel-Vanagaite-Smirin-Yosef syndrome
  275872	Frontotemporal dementia with motor neuron disease
  53583	Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
  798	Schinzel-Giedion syndrome
  2839	Pelvis-shoulder dysplasia
  98842	Lymphomatoid papulosis
  86919	Keratosis palmaris et plantaris-clinodactyly syndrome
  79213	Mucopolysaccharidosis
  33208	Idiopathic hypersomnia
  163961	X-linked cerebral-cerebellar-coloboma syndrome
  276603	Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
  85297	X-linked spinocerebellar ataxia type 3
  466703	TMEM199-CDG
  2730	Postaxial tetramelic oligodactyly
  99819	Familial gestational hyperthyroidism
  500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome
  35099	Non-syndromic bicoronal craniosynostosis
  2556	Microphthalmia with linear skin defects syndrome
  64754	Nevus comedonicus syndrome
  258	Laminin subunit alpha 2-related congenital muscular dystrophy
  500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
  306669	Hemiparkinsonism-hemiatrophy syndrome
  65759	Carpenter syndrome
  251312	Overlapping connective tissue disease
  99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E
  79326	ALG2-CDG
  99856	Primary syringomyelia
  79414	Woolly hair nevus
  2115	Harrod syndrome
  424019	Squamous cell carcinoma of the anal canal
  309147	Hyper-beta-alaninemia
  79467	Verrucous nevus
  77300	Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
  73217	Müllerian aplasia
  404560	Familial atypical multiple mole melanoma syndrome
  251618	Subependymal giant cell astrocytoma
  424016	Adenocarcinoma of the anal canal
  3055	X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
  276234	Non-syndromic male infertility due to sperm motility disorder
  455	Superficial epidermolytic ichthyosis
  90068	Cocaine intoxication
  3102	Richieri Costa-Pereira syndrome
  1104	Anophthalmia plus syndrome
  2495	Meningioma
  180242	Malignant tumor of fallopian tubes
  98282	Plasma cell tumor
  53691	Congenital cornea plana
  93616	Hemoglobin H disease
  2442	X-linked lymphoproliferative disease
  94125	Recessive mitochondrial ataxia syndrome
  401923	9q31.1q31.3 microdeletion syndrome
  118	Beta-mannosidosis
  180275	Paget disease of the nipple
  295004	Central polydactyly
  476084	BVES-related limb-girdle muscular dystrophy
  2942	Postpoliomyelitis syndrome
  96177	Ring chromosome 15 syndrome
  527276	Encephalopathy due to mitochondrial and peroxisomal fission defect
  2905	POEMS syndrome
  2576	Mulibrey nanism
  2662	Keipert syndrome
  65282	Carvajal syndrome
  99940	Autosomal dominant Charcot-Marie-Tooth disease type 2F
  91412	Marcus-Gunn syndrome
  447740	Susceptibility to localized juvenile periodontitis
  209867	Autosomal dominant rhegmatogenous retinal detachment
  1020	Early-onset autosomal dominant Alzheimer disease
  93315	Spondylometaphyseal dysplasia, 'corner fracture' type
  2163	Holoprosencephaly-craniosynostosis syndrome
  1134	Isolated arrhinia
  624	Familial multiple nevi flammei
  583	Mucopolysaccharidosis type 6
  94090	Pseudohypoparathyroidism type 2
  712	Hemolytic anemia due to glucophosphate isomerase deficiency
  1178	Ataxia-tapetoretinal degeneration syndrome
  2311	Autosomal recessive spondylocostal dysostosis
  93925	Alobar holoprosencephaly
  822	Hereditary spherocytosis
  536545	Kyphoscoliotic Ehlers-Danlos syndrome
  379	Chronic granulomatous disease
  79361	Inherited epidermolysis bullosa
  2790	Endosteal hyperostosis, Worth type
  35708	Aromatic L-amino acid decarboxylase deficiency
  2964	Autosomal dominant prognathism
  93397	Brachydactyly type A7
  90076	Partial deep dermal and full thickness burns
  530	Lipoid proteinosis
  482606	X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome
  3255	Filippi syndrome
  94059	Uremic pruritus
  495930	Familial monosomy 7 syndrome
  93316	Spondylometaphyseal dysplasia, Schmidt type
  2890	Pili torti-onychodysplasia syndrome
  73229	HANAC syndrome
  1262	Böök syndrome
  464	Incontinentia pigmenti
  33314	Jessner lymphocytic infiltration of the skin
  2153	Hirschsprung disease-nail hypoplasia-dysmorphism syndrome
  254913	Isolated ATP synthase deficiency
  401	Hymenolepiasis
  435660	LIPE-related familial partial lipodystrophy
  3138	Ulnar-mammary syndrome
  363534	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
  451602	Primary cutaneous plasmacytosis
  3157	Septo-optic dysplasia spectrum
  254504	Inhalational botulism
  101046	Autosomal dominant epilepsy with auditory features
  157997	Benign cephalic histiocytosis
  2504	Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
  2380	Legg-Calvé-Perthes disease
  71862	Inherited retinal disorder
  38874	Dihydropyrimidinuria
  90797	Partial androgen insensitivity syndrome
  881	Turner syndrome
  364198	Bipartite talus
  231573	Congenital erosive and vesicular dermatosis
  35710	Glucose-galactose malabsorption
  309111	Combined pancreatic lipase-colipase deficiency
  3071	Costello syndrome
  35612	Nanophthalmos
  3305	Tetraploidy
  85172	Microcephalic osteodysplastic dysplasia, Saul-Wilson type
  90285	Lupus erythematosus panniculitis
  440437	Familial colorectal cancer Type X
  607	Nemaline myopathy
  268	Dysferlin-related limb-girdle muscular dystrophy R2
  79410	Localized dystrophic epidermolysis bullosa, pretibial form
  210	Cyclosporiasis
  2090	GMS syndrome
  589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
  33067	Metaphyseal chondrodysplasia, Jansen type
  2271	Congenital ichthyosis-microcephalus-tetraplegia syndrome
  1185	Spinocerebellar ataxia-dysmorphism syndrome
  945	Acalvaria
  254334	Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
  3348	Tracheobronchopathia osteochondroplastica
  2256	Fibulo-ulnar hypoplasia-renal anomalies syndrome
  88644	Autosomal recessive ataxia, Beauce type
  263494	DPM3-CDG
  1544	Benign focal seizures of adolescence
  782	Axenfeld-Rieger syndrome
  168984	CLAPO syndrome
  3080	Intellectual disability, Wolff type
  363558	New-onset refractory status epilepticus
  527450	Severe myopia-generalized joint laxity-short stature syndrome
  397946	Autosomal spastic paraplegia type 58
  1545	Crisponi syndrome
  398987	Malignant teratoma of ovary
  168953	Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement
  71273	Renal nutcracker syndrome
  1926	Diabetic embryopathy
  575553	Cathepsin A-related arteriopathy-strokes-leukoencephalopathy
  90065	Acquired aneurysmal subarachnoid hemorrhage
  2518	Autosomal recessive chorioretinopathy-microcephaly syndrome
  79323	MPDU1-CDG
  79127	Respiratory bronchiolitis-interstitial lung disease syndrome
  98626	Stromal corneal dystrophy
  2633	Mesomelic dysplasia, Nievergelt type
  91357	Duplication of the esophagus
  157808	Congenital pseudoarthrosis of the limbs
  51188	Ethylmalonic encephalopathy
  79155	Hydroxykynureninuria
  79455	Cutaneous mastocytoma
  2583	Mycetoma
  25968	Benign occipital epilepsy
  83600	Encephalitis lethargica
  2713	Oculoosteocutaneous syndrome
  352333	Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
  99928	Placental site trophoblastic tumor
  60041	Congenital heart block
  251582	Gliomatosis cerebri
  3383	Humerus trochlea aplasia
  101005	Autosomal recessive spastic paraplegia type 25
  498602	Sugarman brachydactyly
  240	Léri-Weill dyschondrosteosis
  3002	Immune thrombocytopenia
  314373	Chronic infantile diarrhea due to guanylate cyclase 2C overactivity
  2102	GTP cyclohydrolase I deficiency
  97240	Zebra body myopathy
  263410	Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
  480528	Lethal hydranencephaly-diaphragmatic hernia syndrome
  3167	Siegler-Brewer-Carey syndrome
  519404	Optic disc pit
  213625	Leiomyosarcoma of the corpus uteri
  294967	Amelia of upper limb
  444490	Familial chylomicronemia syndrome
  496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
  1116	Aplasia cutis congenita-intestinal lymphangiectasia syndrome
  2290	Microvillus inclusion disease
  166427	Startle epilepsy
  93328	Autosomal dominant omodysplasia
  1160	Chylous ascites
  420733	Combined oxidative phosphorylation defect type 21
  128	Diphyllobothriasis
  2515	Microcephaly-cardiomyopathy syndrome
  2116	Hartnup disease
  71277	Classic glucose transporter type 1 deficiency syndrome
  1652	Dent disease
  397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
  231237	Delta-beta-thalassemia
  35125	Epidermal nevus syndrome
  263479	Fuchs heterochromic iridocyclitis
  420611	Transient myeloproliferative syndrome
  79346	Chondrodysplasia punctata, tibial-metacarpal type
  555874	Congenital tricuspid valve dysplasia
  141118	Nasal encephalocele
  79113	Mandibulofacial dysostosis-microcephaly syndrome
  466695	Supratip dysplasia
  1070	Anisakiasis
  91489	Isolated congenital megalocornea
  3099	Rheumatic fever
  561854	FOXG1 syndrome
  79466	Inflammatory linear verrucous epidermal nevus
  180229	Polyembryoma
  2714	Oculo-palato-cerebral syndrome
  85334	X-linked neurodegenerative syndrome, Bertini type
  166035	Brachydactyly-short stature-retinitis pigmentosa syndrome
  3405	Umbilical cord ulceration-intestinal atresia syndrome
  3350	Tremor-nystagmus-duodenal ulcer syndrome
  494444	DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
  500545	Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract
  98850	Aggressive systemic mastocytosis
  163634	Maffucci syndrome
  726	Alpers-Huttenlocher syndrome
  381	Griscelli syndrome
  91135	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
  284232	Autosomal dominant Charcot-Marie-Tooth disease type 2O
  83620	Enteric anendocrinosis
  584	Mucopolysaccharidosis type 7
  137820	Extrapelvic endometriosis
  314555	Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome
  53698	Myosin storage myopathy
  1415	Cholestasis-pigmentary retinopathy-cleft palate syndrome
  79435	Oculocutaneous albinism type 4
  289586	Exfoliative ichthyosis
  139564	Hereditary sensory and autonomic neuropathy type 1B
  227976	Autosomal recessive optic atrophy, OPA7 type
  261476	Xp21 deletion syndrome
  98767	Spinocerebellar ataxia type 11
  313936	PENS syndrome
  363396	High myopia-sensorineural deafness syndrome
  100081	Neuroendocrine tumor of the rectum
  314002	Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome
  457260	X-linked intellectual disability-hypotonia-movement disorder syndrome
  228415	5q35 microduplication syndrome
  3177	Spinocerebellar degeneration-corneal dystrophy syndrome
  300849	Diffuse large B-cell lymphoma of the central nervous system
  98274	Myeloproliferative neoplasm
  293807	Ketamine-induced biliary dilatation
  370921	STT3A-CDG
  3097	Meacham syndrome
  440724	Extensive peripapillary myelinated nerve fibers
  1723	Mosaic trisomy 2
  168950	Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement
  90186	Meige disease
  300878	Hairy cell leukemia variant
  1355	Congenital heart defect-round face-developmental delay syndrome
  441	Pure autonomic failure
  98771	Spinocerebellar ataxia type 18
  100057	Renin-angiotensin-aldosterone system-blocker-induced angioedema
  2582	Myalgia-eosinophilia syndrome associated with tryptophan
  1662	Restrictive dermopathy
  93114	Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
  171612	Autosomal dominant spastic paraplegia type 37
  3426	Double outlet right ventricle
  231401	Alpha-thalassemia-myelodysplastic syndrome
  869	Triple A syndrome
  2498	Syndactyly type 8
  99749	Kostmann syndrome
  309152	GM2 gangliosidosis
  94066	Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia
  165805	Familial mesial temporal lobe epilepsy with febrile seizures
  2780	Osteopathia striata-cranial sclerosis syndrome
  409	Hyperkeratosis lenticularis perstans
  436151	Intellectual disability-expressive aphasia-facial dysmorphism syndrome
  3026	Radial ray hypoplasia-choanal atresia syndrome
  190	Coats disease
  1194	TMEM70-related mitochondrial encephalo-cardio-myopathy
  137602	Corneal endotheliitis
  2001	Cleft lip/palate-intestinal malrotation-cardiopathy syndrome
  2700	Noma
  29822	Spontaneous periodic hypothermia
  67043	Amoebic keratitis
  1345	Cardiomyopathy-cataract-hip spine disease syndrome
  1946	Amelocerebrohypohidrotic syndrome
  565782	Methotrexate toxicity
  1941	Juvenile absence epilepsy
  247	Inherited arrhythmogenic cardiomyopathy
  157973	Congenital muscular dystrophy due to LMNA mutation
  477814	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  570	Moebius syndrome
  85175	Astley-Kendall dysplasia
  309310	Mucopolysaccharidosis type 4B
  1006	Alopecia antibody deficiency
  330064	Chronic actinic dermatitis
  199351	Adult-onset dystonia-parkinsonism
  168940	Chronic eosinophilic leukemia
  521406	Dystonia-parkinsonism-hypermanganesemia syndrome
  99109	Persistent left superior vena cava connecting through coronary sinus to left-sided atrium
  575	Muckle-Wells syndrome
  3152	Sclerosteosis
  396	Chronic hiccup
  2356	Arachnoid cyst
  231457	Acute pandysautonomia
  2983	Difference of sex development-intellectual disability syndrome
  75377	Central areolar choroidal dystrophy
  2141	Diaphragmatic defect-limb deficiency-skull defect syndrome
  745	Severe hereditary thrombophilia due to congenital protein C deficiency
  1659	Dermatoleukodystrophy
  158014	Rosaï-Dorfman disease
  743	Severe hereditary thrombophilia due to congenital protein S deficiency
  2688	Adult idiopathic neutropenia
  101330	Porphyria cutanea tarda
  43117	Acute tricyclic antidepressant poisoning
  79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-
  33475	Meningococcal meningitis
  85198	Dysspondyloenchondromatosis
  3452	Whipple disease
  1513	Craniodiaphyseal dysplasia
  99771	Bifid uvula
  324636	Autoerythrocyte sensitization syndrome
  319635	Amyloidosis cutis dyschromia
  370924	STT3B-CDG
  893	WAGR syndrome
  3408	Upington disease
  275944	Hemolytic disease of the newborn with Kell alloimmunization
  186	Primary biliary cholangitis
  96190	Paternal uniparental disomy of chromosome 5
  66633	Sensorineural hearing loss-early graying-essential tremor syndrome
  137622	Intractable diarrhea-choanal atresia-eye anomalies syndrome
  306	Benign familial infantile epilepsy
  1375	Cataract-hypertrichosis-intellectual disability syndrome
  1209	Tricuspid atresia
  2909	Rothmund-Thomson syndrome
  137888	Auriculocondylar syndrome
  289573	Multiple mitochondrial dysfunctions syndrome
  498485	Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome
  1896	EEC syndrome
  93320	Ulnar hemimelia
  3184	Steatocystoma multiplex-natal teeth syndrome
  487	Krabbe disease
  2806	Subacute sclerosing leukoencephalitis
  137634	Overgrowth-macrocephaly-facial dysmorphism syndrome
  401800	Autosomal recessive spastic paraplegia type 60
  91413	Congenital Horner syndrome
  50944	Schöpf-Schulz-Passarge syndrome
  309294	Sialidosis
  457375	ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
  99095	Congenital Gerbode defect
  168566	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
  857	Townes-Brocks syndrome
  139518	Distal hereditary motor neuropathy type 1
  95427	Secondary short bowel syndrome
  485426	Isolated congenital hepatic fibrosis
  79665	Gardner syndrome
  101023	Cleft hard palate
  69084	Pure hair and nail ectodermal dysplasia
  93476	Hurler-Scheie syndrome
  1302	Cryptogenic organizing pneumonia
  637061	Isolated optic nerve hypoplasia
  281	Monosomy 5p
  169150	Immunodeficiency due to a late component of complement deficiency
  276198	Spinocerebellar ataxia type 36
  560	Marshall syndrome
  705	Pendred syndrome
  77295	Odontoleukodystrophy
  157801	Mesoaxial synostotic syndactyly with phalangeal reduction
  79156	Seizures-intellectual disability due to hydroxylysinuria syndrome
  1935	Early myoclonic encephalopathy
  99857	Secondary syringomyelia
  2604	Familial visceral myopathy
  85293	X-linked intellectual disability, Cabezas type
  130	Brugada syndrome
  84093	Hereditary thermosensitive neuropathy
  251643	Myxopapillary ependymoma
  158008	Papular xanthoma
  364063	Infantile epileptic-dyskinetic encephalopathy
  776	Lujan-Fryns syndrome
  2878	Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome
  313838	Coats plus syndrome
  284227	TEMPI syndrome
  1658	Absence of fingerprints-congenital milia syndrome
  459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
  391311	Susceptibility to viral and mycobacterial infections due to STAT1 deficiency
  54	X-linked recessive ocular albinism
  293173	Acute generalized exanthematous pustulosis
  439232	AApoAIV amyloidosis
  79263	Infantile neuronal ceroid lipofuscinosis
  1110	Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
  251927	Extraventricular neurocytoma
  2201	Palmoplantar keratoderma-spastic paralysis syndrome
  98833	Acute myeloblastic leukemia without maturation
  2561	Pyramidal molars-abnormal upper lip syndrome
  199247	Corticosteroid-binding globulin deficiency
  1979	Lipodystrophy due to peptidic growth factors deficiency
  589608	Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies
  488	Urachal cyst
  171703	Microcephaly-polymicrogyria-corpus callosum agenesis syndrome
  2039	Congenital systemic arteriovenous fistula
  357332	Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome
  399808	Male infertility with teratozoospermia due to single gene mutation
  364577	Intellectual disability-brachydactyly-Pierre Robin syndrome
  93585	Immune-mediated thrombotic thrombocytopenic purpura
  98807	Primary dystonia, DYT13 type
  888	Van der Woude syndrome
  251304	Infantile onset panniculitis with uveitis and systemic granulomatosis
  459051	Spondyloepiphyseal dysplasia, Stanescu type
  228000	Idiopathic CD4 lymphocytopenia
  14	Abetalipoproteinemia
  98975	Congenital hereditary endothelial dystrophy type I
  1059	Blue rubber bleb nevus
  254803	Mitochondrial DNA depletion syndrome, encephalomyopathic form
  163662	Spondyloepiphyseal dysplasia, Reardon type
  703	Bullous pemphigoid
  2077	German syndrome
  1336	Hyperkeratosis-hyperpigmentation syndrome
  275864	Behavioral variant of frontotemporal dementia
  79292	Fish-eye disease
  957	Acropectorovertebral dysplasia
  1661	X-linked corneal dermoid
  96172	Ring chromosome 3 syndrome
  3325	Heparin-induced thrombocytopenia
  391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
  98893	Congenital muscular dystrophy type 1B
  2926	Digital extensor muscle aplasia-polyneuropathy
  398166	Focal facial dermal dysplasia
  412181	Epidermolysis bullosa simplex due to BP230 deficiency
  99901	Acyl-CoA dehydrogenase 9 deficiency
  457365	Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome
  483	Congenital high-molecular-weight kininogen deficiency
  93351	Spondyloepimetaphyseal dysplasia, Irapa type
  357154	Oral submucous fibrosis
  2655	Thanatophoric dysplasia
  212	Cystathioninuria
  251975	Rosette-forming glioneuronal tumor
  411590	Wolfram-like syndrome
  568056	Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome
  169467	Recurrent Neisseria infections due to factor D deficiency
  248340	Isolated delta-storage pool disease
  177	Rhizomelic chondrodysplasia punctata
  55595	TNP03-related limb-girdle muscular dystrophy D2
  306692	Cyanide-induced parkinsonism-dystonia
  424943	Adenocarcinoma of the liver and intrahepatic biliary tract
  319182	Wiedemann-Steiner syndrome
  98267	Genetic non-syndromic obesity
  141091	Polyrrhinia
  83311	Rocky Mountain spotted fever
  307	Juvenile myoclonic epilepsy
  448264	Isolated focal non-epidermolytic palmoplantar keratoderma
  43	X-linked adrenoleukodystrophy
  125	Bloom syndrome
  519930	Fungal keratitis
  171	Primary sclerosing cholangitis
  319199	Autosomal recessive spastic paraplegia type 53
  319589	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
  139455	Autosomal recessive bestrophinopathy
  2571	X-linked immunoneurologic disorder
  454750	Isolated tracheoesophageal fistula
  401840	Autosomal recessive spastic paraplegia type 71
  1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
  2104	Dysmorphism-pectus carinatum-joint laxity syndrome
  137908	Hypotonia with lactic acidemia and hyperammonemia
  314769	Somatomammotropinoma
  443173	Postpartum psychosis
  1672	Diencephalic syndrome
  140941	Short stature due to primary acid-labile subunit deficiency
  2807	Papilloma of choroid plexus
  1770	XY type gonadal dysgenesis-associated anomalies syndrome
  66661	Mast cell sarcoma
  331187	Immunodeficiency due to MASP-2 deficiency
  99969	Pleomorphic liposarcoma
  464458	Paracetamol poisoning
  85163	Hypomyelination-congenital cataract syndrome
  280553	Fatal infantile hypertonic myofibrillar myopathy
  2379	Early-onset parkinsonism-intellectual disability syndrome
  397623	Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
  309256	Metachromatic leukodystrophy, late infantile form
  169090	Combined immunodeficiency due to CRAC channel dysfunction
  530995	Mixed phenotype acute leukemia
  69088	Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
  90157	Drug-induced localized lipodystrophy
  42	Medium chain acyl-CoA dehydrogenase deficiency
  90026	Primary erythromelalgia
  93337	Polydactyly of an index finger
  2597	Mitochondrial myopathy-lactic acidosis-deafness syndrome
  415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
  369847	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
  280068	Visceral calciphylaxis
  3310	Tetrasomy 9p
  96170	Emanuel syndrome
  228243	Elastofibroma dorsi
  449563	IgG4-related ophthalmic disease
  85194	Spondylo-ocular syndrome
  316	Progressive symmetric erythrokeratodermia
  511	Maple syrup urine disease
  506358	Gabriele-de Vries syndrome
  793	SAPHO syndrome
  465	Congenital plasminogen activator inhibitor type 1 deficiency
  67038	B-cell chronic lymphocytic leukemia
  2228	Hypodontia-dysplasia of nails syndrome
  99829	Yellow fever
  67036	Autosomal dominant optic atrophy and cataract
  1948	Epilepsy-microcephaly-skeletal dysplasia syndrome
  83601	Steroid-responsive encephalopathy associated with autoimmune thyroiditis
  158	Systemic primary carnitine deficiency
  16	Blue cone monochromatism
  480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
  495875	Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
  79327	ALG1-CDG
  2511	Microbrachycephaly-ptosis-cleft lip syndrome
  498494	Mirror-image polydactyly
  581	Mucopolysaccharidosis type 3
  99090	Malposition of a coronary ostium
  223727	Bone sarcoma
  65684	Monomelic amyotrophy
  2272	Ichthyosis-oral and digital anomalies syndrome
  3472	Yunis-Varon syndrome
  727	Microscopic polyangiitis
  1959	Evans syndrome
  519386	Isolated congenital entropion
  93349	X-linked spondyloepimetaphyseal dysplasia
  3191	Subaortic stenosis-short stature syndrome
  803	Amyotrophic lateral sclerosis
  369	Glycogen storage disease due to liver glycogen phosphorylase deficiency
  141174	Mandibular arteriovenous malformation
  352490	Autism spectrum disorder due to AUTS2 deficiency
  404521	Spinal muscular atrophy with respiratory distress type 2
  2678	Familial isolated café-au-lait macules
  99741	King-Denborough syndrome
  44	Neonatal adrenoleukodystrophy
  93404	Syndactyly type 3
  457095	Actinomycosis
  478664	Hereditary sensory and autonomic neuropathy type 8
  3374	Unilateral ocular duplication
  251604	Gemistocytic astrocytoma
  300324	Persistent polyclonal B-cell lymphocytosis
  899	Walker-Warburg syndrome
  53690	Congenital lactase deficiency
  300504	Onychocytic matricoma
  79394	Congenital ichthyosiform erythroderma
  3121	Ruvalcaba syndrome
  83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
  341	Viral hemorrhagic fever
  97230	Solar urticaria
  319675	Microcephalic primordial dwarfism, Dauber type
  98942	Coloboma of choroid and retina
  213716	Squamous cell carcinoma of the corpus uteri
  3291	Teebi-Shaltout syndrome
  228374	Charcot-Marie-Tooth disease type 2B5
  505652	CDKL5-deficiency disorder
  137776	Lethal congenital contracture syndrome type 2
  598	Multiminicore myopathy
  370079	Proximal 16p11.2 microduplication syndrome
  568065	EPHB4-related lymphatic-related hydrops fetalis
  213767	Squamous cell carcinoma of the cervix uteri
  100045	Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
  353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5
  217055	Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
  99172	Euryblepharon
  98870	Congenital dyserythropoietic anemia type III
  2322	Kabuki syndrome
  861	Treacher-Collins syndrome
  496751	EVEN-plus syndrome
  79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
  529	Roch-Leri mesosomatous lipomatosis
  1040	Metaphyseal anadysplasia
  98911	Distal myotilinopathy
  485418	EMILIN-1-related connective tissue disease
  496686	Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome
  397615	Obesity due to CEP19 deficiency
  321	Multiple osteochondromas
  730	Autosomal dominant polycystic kidney disease
  93958	Oromandibular dystonia
  295	Fetal parvovirus syndrome
  171881	Cap myopathy
  247378	Autosomal recessive secondary polycythemia not associated with VHL gene
  764	Pyomyositis
  402003	Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
  348	Fructose-1,6-bisphosphatase deficiency
  100071	Mosaic trisomy 3
  183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency
  77298	Anophthalmia/microphthalmia-esophageal atresia syndrome
  505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
  26792	Short chain acyl-CoA dehydrogenase deficiency
  95465	Cleft mitral valve
  314478	Ovarian fibrothecoma
  217560	Neuroendocrine cell hyperplasia of infancy
  251325	Drug-induced vasculitis
  480	Kearns-Sayre syndrome
  73	Gorham-Stout disease
  1401	CHAND syndrome
  100996	Autosomal recessive spastic paraplegia type 15
  137807	Primary cutaneous amyloidosis
  79324	ALG12-CDG
  293707	Blepharophimosis-intellectual disability syndrome, MKB type
  1525	Cranio-osteoarthropathy
  86845	Acute myeloid leukaemia with myelodysplasia-related features
  87876	Sialidosis type 2
  86870	Blastic plasmacytoid dendritic cell neoplasm
  544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
  90282	Hypertrophic or verrucous lupus erythematosus
  356978	D,L-2-hydroxyglutaric aciduria
  2513	Microcephaly-albinism-digital anomalies syndrome
  79147	Familial reactive perforating collagenosis
  86911	Epilepsy with myoclonic absences
  1660	Dermoodontodysplasia
  2932	Chronic inflammatory demyelinating polyneuropathy
  319298	Papillary renal cell carcinoma
  915	Aarskog-Scott syndrome
  2519	Microcephaly-seizures-intellectual disability-heart disease syndrome
  221139	Combined immunodeficiency with facio-oculo-skeletal anomalies
  443162	NDE1-related microhydranencephaly
  100014	Lissencephaly with cerebellar hypoplasia type D
  401795	Autosomal recessive spastic paraplegia type 59
  436169	Thrombomodulin-related bleeding disorder
  295044	Macrodactyly of fingers
  370052	SCALP syndrome
  2510	Micro syndrome
  538574	Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome
  324442	Autosomal recessive axonal neuropathy with neuromyotonia
  544503	RNF13-related severe early-onset epileptic encephalopathy
  369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
  96123	Monosomy 22
  445038	3-methylglutaconic aciduria type 7
  544	Diffuse large B-cell lymphoma
  228012	Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome
  329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
  70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
  98676	Autosomal recessive isolated optic atrophy
  2437	Czeizel-Losonci syndrome
  79325	ALG8-CDG
  3454	Intellectual disability-developmental delay-contractures syndrome
  280365	Autosomal semi-dominant severe lipodystrophic laminopathy
  99408	Pituitary adenoma
  2346	Angioosteohypertrophic syndrome
  168601	Congenital enteropathy due to enteropeptidase deficiency
  314632	ATP13A2-related juvenile neuronal ceroid lipofuscinosis
  1879	Melorheostosis with osteopoikilosis
  569164	Angiomatoid fibrous histiocytoma
  85276	X-linked intellectual disability, Armfield type
  68378	Congenital limb malformation
  85275	Microphthalmia-ankyloblepharon-intellectual disability syndrome
  829	Adult-onset Still disease
  472	Isosporiasis
  64722	Granulomatous mastitis
  100032	Hypocalcified amelogenesis imperfecta
  96192	Paternal uniparental disomy of chromosome 7
  52054	Craniosynostosis-intracranial calcifications syndrome
  1478	Interatrial communication
  91359	Chronic pneumonitis of infancy
  783	Rubinstein-Taybi syndrome
  314621	Duplication of the pituitary gland
  3085	Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
  2375	Laryngeal abductor paralysis-intellectual disability syndrome
  314603	Autosomal recessive spastic ataxia with leukoencephalopathy
  1072	Ankyloblepharon filiforme adnatum-cleft palate syndrome
  60026	Pulmonary nodular lymphoid hyperplasia
  2721	Odonto-onycho-dermal dysplasia
  770	Rabies
  3077	X-linked intellectual disability-psychosis-macroorchidism syndrome
  3343	Toxocariasis
  2793	Otoonychoperoneal syndrome
  563671	Mucinous cystadenoma of childhood
  495818	9q33.3q34.11 microdeletion syndrome
  464288	Short stature-brachydactyly-obesity-global developmental delay syndrome
  459074	Corpus callosum agenesis-macrocephaly-hypertelorism syndrome
  98306	Familial partial lipodystrophy
  2611	Linear verrucous nevus syndrome
  464359	Benign metanephric tumor
  402075	Familial bicuspid aortic valve
  98261	Progressive myoclonic epilepsy
  319605	X-linked mendelian susceptibility to mycobacterial diseases
  98922	Blake pouch cyst
  1055	Congenital left ventricular aneurysm
  496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome
  324364	Mixed sclerosing bone dystrophy with extra-skeletal manifestations
  303	Dystrophic epidermolysis bullosa
  3225	Hearing loss-familial salivary gland insensitivity to aldosterone syndrome
  2133	Hemoglobin E disease
  280779	Cutaneous collagenous vasculopathy
  134	Beta-ketothiolase deficiency
  3181	Sprengel deformity
  424002	Squamous cell carcinoma of the rectum
  86788	X-linked severe congenital neutropenia
  97332	Kienbock disease
  97567	Immunotactoid glomerulopathy
  1399	Richards-Rundle syndrome
  66637	Diaphanospondylodysostosis
  734	Alpha delta granule deficiency
  329228	Microcephalic primordial dwarfism due to ZNF335 deficiency
  476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
  49	Penile agenesis
  2438	Hand-foot-genital syndrome
  329942	Transient neonatal multiple acyl-CoA dehydrogenase deficiency
  536471	Spondylodysplastic Ehlers-Danlos syndrome
  1340	Cardiofaciocutaneous syndrome
  3447	Weaver syndrome
  64746	Autosomal dominant Charcot-Marie-Tooth disease type 2
  597	Central core disease
  93256	Fragile X-associated tremor/ataxia syndrome
  1830	Schimke immuno-osseous dysplasia
  1727	22q11.2 duplication syndrome
  504523	Severe combined immunodeficiency due to LAT deficiency
  1671	Split cord malformation type I
  522037	Primary autoimmune enteropathy
  2476	Dysraphism-cleft lip/palate-limb reduction defects syndrome
  2643	Microcephalic primordial dwarfism, Toriello type
  908	Fragile X syndrome
  2565	Mononen-Karnes-Senac syndrome
  63862	Schisis association
  1855	Spondyloenchondrodysplasia
  53347	Brody myopathy
  399175	Traumatic avascular necrosis
  85436	Psoriasis-related juvenile idiopathic arthritis
  627	Nance-Horan syndrome
  51636	WHIM syndrome
  93304	Autosomal dominant brachyolmia
  3270	Radioulnar synostosis-developmental delay-hypotonia syndrome
  566175	Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome
  33276	Kaposi sarcoma
  476093	Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome
  1876	Oculogastrointestinal muscular dystrophy
  79643	Autosomal recessive hyperinsulinism due to SUR1 deficiency
  251639	Subependymoma
  101039	Female restricted epilepsy with intellectual disability
  79404	Severe generalized junctional epidermolysis bullosa
  2744	Horizontal gaze palsy with progressive scoliosis
  391655	Off-periods in Parkinson disease not responding to oral treatment
  2140	Congenital diaphragmatic hernia
  365	Glycogen storage disease due to acid maltase deficiency
  412189	Epidermolysis bullosa simplex due to exophilin 5 deficiency
  331176	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  1065	Aniridia-cerebellar ataxia-intellectual disability syndrome
  300888	Diffuse large B-cell lymphoma with chronic inflammation
  3010	Qazi-Markouizos syndrome
  173	Cholera
  52530	Pseudo-von Willebrand disease
  314485	Young adult-onset distal hereditary motor neuropathy
  300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
  217467	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
  2339	Keratosis follicularis-dwarfism-cerebral atrophy syndrome
  31824	Colchicine poisoning
  131	Budd-Chiari syndrome
  93606	Nephrogenic syndrome of inappropriate antidiuresis
  35889	Acute opioid intoxication
  1484	Contractures-ectodermal dysplasia-cleft lip/palate syndrome
  99936	Autosomal dominant Charcot-Marie-Tooth disease type 2B
  247353	Generalized pustular psoriasis
  502444	Alkaline ceramidase 3 deficiency
  672	Pallister-Hall syndrome
  252175	Vestibular schwannoma
  230857	Ehlers-Danlos/osteogenesis imperfecta syndrome
  2302	Asbestos intoxication
  2251	Thumb deformity-alopecia-pigmentation anomaly syndrome
  927	Hyperammonemia due to N-acetylglutamate synthase deficiency
  562639	Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome
  2671	Neu-Laxova syndrome
  2868	Short stature-valvular heart disease-characteristic facies syndrome
  2377	Laurence-Moon syndrome
  251019	2q32q33 microdeletion syndrome
  324290	Early-onset Lafora body disease
  240760	Nijmegen breakage syndrome-like disorder
  521	Chronic myeloid leukemia
  75234	Cholesteryl ester storage disease
  1794	Oculomaxillofacial dysostosis
  101076	X-linked Charcot-Marie-Tooth disease type 2
  98813	Hypohidrotic ectodermal dysplasia with immunodeficiency
  166277	Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia
  163596	Hb Bart's hydrops fetalis
  3098	Rhizomelic syndrome, Urbach type
  231393	Beta-thalassemia-X-linked thrombocytopenia syndrome
  576370	Variant Creutzfeldt-Jakob disease
  71	Chylomicron retention disease
  223735	Lymphoma
  567	22q11.2 deletion syndrome
  1041	Hydrops fetalis
  88924	Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
  3409	Urban-Rogers-Meyer syndrome
  93284	Spondyloepiphyseal dysplasia tarda
  71272	Sandifer syndrome
  513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
  700	Alopecia totalis
  98944	Coloboma of iris
  1021	Amaurosis-hypertrichosis syndrome
  91481	Ring dermoid of cornea
  420259	Secondary pulmonary alveolar proteinosis
  168491	Late infantile neuronal ceroid lipofuscinosis
  79105	Myxofibrosarcoma
  2856	Persistent Müllerian duct syndrome
  529980	Inflammatory bowel disease-recurrent sinopulmonary infections syndrome
  319558	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
  324540	Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
  2461	Marden-Walker syndrome
  527497	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy
  566841	Liver adenomatosis
  103910	Congenital enterocyte heparan sulfate deficiency
  99742	Amish lethal microcephaly
  70596	Congenital Epstein-Barr virus infection
  1263	Boomerang dysplasia
  86915	Lymphedema-atrial septal defects-facial changes syndrome
  254905	Isolated cytochrome C oxidase deficiency
  96171	Ring chromosome 2 syndrome
  1837	Ulna metaphyseal dysplasia syndrome
  1566	Dandy-Walker malformation-postaxial polydactyly syndrome
  98797	Isochromosomy Yp
  93930	Bladder exstrophy
  139466	SERKAL syndrome
  99118	Coronary sinus atresia
  96263	48,XXXY syndrome
  991	PAGOD syndrome
  2994	Short stature-craniofacial anomalies-genital hypoplasia syndrome
  126	Blepharophimosis-ptosis-epicanthus inversus syndrome
  399096	Distal anoctaminopathy
  35689	Primary lateral sclerosis
  497737	Epidermolytic nevus
  1772	45,X/46,XY mixed gonadal dysgenesis
  2062	Progressive non-infectious anterior vertebral fusion
  276183	Spinocerebellar ataxia type 32
  1954	Congenital lethal erythroderma
  251515	Distal arthrogryposis type 10
  65285	Lhermitte-Duclos disease
  1784	Acrofrontofacionasal dysostosis
  180176	Familial juvenile hypertrophy of the breast
  255132	Adult-onset autosomal recessive sideroblastic anemia
  641	Multifocal motor neuropathy
  37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  456298	1p35.2 microdeletion syndrome
  3347	Mounier-Kühn syndrome
  375	Anti-glomerular basement membrane disease
  319678	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
  247790	FTH1-related iron overload
  1699	Trisomy 12p
  457240	X-linked intellectual disability-short stature-overweight syndrome
  65288	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
  2826	Spastic paraplegia-precocious puberty syndrome
  494541	Childhood-onset benign chorea with striatal involvement
  199642	Isolated congenital microcephaly
  95708	Rare precocious puberty
  369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
  75233	Wolman disease
  34520	Congenital muscular dystrophy with integrin alpha-7 deficiency
  1216	Autosomal dominant congenital benign spinal muscular atrophy
  252050	Primary melanoma of the central nervous system
  251393	Localized junctional epidermolysis bullosa
  85279	KDM5C-related syndromic X-linked intellectual disability
  542657	Isolated hyperchlorhidrosis
  101063	Situs inversus totalis
  158676	Localized dystrophic epidermolysis bullosa, nails only
  30924	Primary hypomagnesemia with secondary hypocalcemia
  180237	Benign tumor of fallopian tubes
  26793	Very long chain acyl-CoA dehydrogenase deficiency
  2745	Opitz GBBB syndrome
  314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
  3439	Von Voss-Cherstvoy syndrome
  1532	Gómez-López-Hernández syndrome
  369979	Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome
  2406	Locked-in syndrome
  3204	Stormorken-Sjaastad-Langslet syndrome
  449291	Symptomatic form of fragile X syndrome in female carriers
  3389	Tuberculosis
  228277	Familial anetoderma
  352563	Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
  447	Paroxysmal nocturnal hemoglobinuria
  199340	Muscular dystrophy, Selcen type
  435438	Progressive myoclonic epilepsy type 7
  1358	Carey-Fineman-Ziter syndrome
  83465	Narcolepsy type 2
  90069	Systemic monochloroacetate poisoning
  33572	5-oxoprolinase deficiency
  496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
  2724	Odontomatosis-aortae esophagus stenosis syndrome
  73267	Non-24-hour sleep-wake syndrome
  1519	SPECC1L-related hypertelorism syndrome
  231222	Beta-thalassemia intermedia
  217059	Isolated congenital digital clubbing
  352745	Oculocutaneous albinism type 7
  1177	Early-onset cerebellar ataxia with retained tendon reflexes
  31837	Pulmonary venoocclusive disease
  32960	Tumor necrosis factor receptor 1 associated periodic syndrome
  1788	Acrofacial dysostosis, Rodríguez type
  95455	Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum
  94089	Pseudohypoparathyroidism type 1B
  214	Cystinuria
  191	Cockayne syndrome
  98606	Syndromic orbital border hypoplasia
  595356	Localized dystrophic epidermolysis bullosa
  228371	Foodborne botulism
  95430	Congenital tracheomalacia
  2065	Galloway-Mowat syndrome
  86893	Nodular lymphocyte predominant Hodgkin lymphoma
  85288	X-linked intellectual disability, Stocco Dos Santos type
  2720	Oculocerebral hypopigmentation syndrome, Preus type
  98976	Congenital glaucoma
  226	Dihydropteridine reductase deficiency
  238763	Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
  1521	Craniofrontonasal dysplasia-Poland anomaly syndrome
  391417	HSD10 disease
  168606	Seborrhea-like dermatitis with psoriasiform elements
  363992	Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
  2920	Oliver syndrome
  2965	Prolactinoma
  263432	Nevus of Ito
  314422	Ameloblastic carcinoma
  93387	Brachydactyly type E
  2928	Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
  329802	5p13 microduplication syndrome
  1764	Familial dysautonomia
  411712	Maternal riboflavin deficiency
  178338	UV-sensitive syndrome
  140286	Secondary hypoparathyroidism due to impaired parathormon secretion
  98766	Spinocerebellar ataxia type 5
  1508	Coxoauricular syndrome
  468726	Severe primary trimethylaminuria
  2820	Spastic paraplegia-nephritis-deafness syndrome
  53271	Muenke syndrome
  521305	Proximal myopathy with focal depletion of mitochondria
  98805	Primary dystonia, DYT4 type
  1217	Spinal atrophy-ophthalmoplegia-pyramidal syndrome
  137831	X-linked intellectual disability-cerebellar hypoplasia syndrome
  98845	Classic Hodgkin lymphoma, lymphocyte-rich type
  202	Crandall syndrome
  247604	Juvenile primary lateral sclerosis
  574918	Predisposition to severe viral infection due to IRF7 deficiency
  93108	Renal dysplasia
  75391	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
  251014	2q31.1 microdeletion syndrome
  1834	Axial mesodermal dysplasia spectrum
  2145	Craniosynostosis, Herrmann-Opitz type
  141037	Fourth branchial cleft anomaly
  93358	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
  169802	Severe hemophilia A
  529852	Combined hepatocellular carcinoma and cholangiocarcinoma
  171442	Adult-onset nemaline myopathy
  171706	Short stature-delayed bone age due to thyroid hormone metabolism deficiency
  2669	Nephrosis-deafness-urinary tract-digital malformations syndrome
  2940	Porencephaly
  398063	Refractory celiac disease
  875	Primary pediatric heart tumor
  319266	Omsk hemorrhagic fever
  2371	Lethal Larsen-like syndrome
  293725	Blepharophimosis-intellectual disability syndrome, Verloes type
  370059	NEVADA syndrome
  480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
  178544	Primary cutaneous diffuse large B-cell lymphoma, leg type
  442582	AH amyloidosis
  2751	Orofaciodigital syndrome type 2
  477781	Primary condylar hyperplasia
  300493	Sagliker syndrome
  457185	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  570422	Galactose mutarotase deficiency
  88633	Superior limbic keratoconjunctivitis
  3286	Catecholaminergic polymorphic ventricular tachycardia
  2333	Kenny-Caffey syndrome
  391343	Fatal post-viral neurodegenerative disorder
  159	Carnitine-acylcarnitine translocase deficiency
  499096	Isolated optic neuritis
  320406	Spastic paraplegia-optic atrophy-neuropathy syndrome
  289478	PASH syndrome
  569821	Congenital primary lymphedema of Gordon
  100075	Neuroendocrine tumor of stomach
  93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type
  98980	Cogan-Reese syndrome
  293165	Skin fragility-woolly hair-palmoplantar keratoderma syndrome
  293462	Pre-Descemet corneal dystrophy
  178382	Congenital vertical talus
  171607	X-linked spastic paraplegia type 34
  210576	Congenital temporomandibular joint ankylosis
  710	Pfeiffer syndrome
  178400	Distal myopathy with anterior tibial onset
  2025	Gingival fibromatosis-facial dysmorphism syndrome
  1551	Familial benign copper deficiency
  50	Aicardi syndrome
  238523	Atypical hypotonia-cystinuria syndrome
  2869	Peutz-Jeghers syndrome
  2330	Kasabach-Merritt syndrome
  63446	Acrocapitofemoral dysplasia
  97280	Glucagonoma
  79099	Interstitial granulomatous dermatitis with arthritis
  199260	Calcifying aponeurotic fibroma
  213777	High-grade neuroendocrine carcinoma of the cervix uteri
  342	Familial Mediterranean fever
  370968	Congenital muscular dystrophy with intellectual disability
  677	Pancreatoblastoma
  101011	Autosomal dominant spastic paraplegia type 31
  673	Malaria
  286	Vascular Ehlers-Danlos syndrome
  36235	Staphylococcal scarlet fever
  319189	Familial cortical myoclonus
  284160	8q21.11 microdeletion syndrome
  99931	Idiopathic pulmonary hemosiderosis
  99657	Primary dystonia, DYT2 type
  431344	Urachal sinus
  2825	PARC syndrome
  98835	Acute undifferentiated leukemia
  329191	Tall stature-long halluces-multiple extra-epiphyses syndrome
  166032	Multiple epiphyseal dysplasia, with miniepiphyses
  206572	Overlap myositis
  315	Erythrokeratoderma ''en cocardes''
  166038	Metaphyseal chondrodysplasia, Kaitila type
  3346	Tracheal agenesis
  101006	Autosomal recessive spastic paraplegia type 26
  231450	Acute pure sensory neuropathy
  431272	X-linked scapuloperoneal muscular dystrophy
  1225	Baller-Gerold syndrome
  228379	Virus-associated trichodysplasia spinulosa
  314777	Familial isolated pituitary adenoma
  720	Pili bifurcati
  399293	Osteonecrosis of the jaw
  83484	St. Louis encephalitis
  324632	Hendra virus infection
  1113	Aphalangy-syndactyly-microcephaly syndrome
  79320	ALG6-CDG
  541423	Growth delay-intellectual disability-hepatopathy syndrome
  93277	Monostotic fibrous dysplasia
  294971	Tetra-amelia
  1307	Distal limb deficiencies-micrognathia syndrome
  210272	Mal de débarquement
  180074	True unicornuate uterus
  2107	Hall-Riggs syndrome
  219	Delta-sarcoglycan-related limb-girdle muscular dystrophy R6
  78	Ankylostomiasis
  268369	Open spinal dysraphism
  349	Fucosidosis
  221120	Pseudoaminopterin syndrome
  247245	Superficial siderosis
  79493	Brooke-Spiegler syndrome
  439167	Placental insufficiency
  561	Marshall-Smith syndrome
  268882	Arnold-Chiari malformation type I
  436166	Periodic fever-infantile enterocolitis-autoinflammatory syndrome
  2407	Laryngo-onycho-cutaneous syndrome
  71518	Benign paroxysmal torticollis of infancy
  2414	Congenital pulmonary lymphangiectasia
  458763	Retiform hemangioendothelioma
  1473	Uveal coloboma-cleft lip and palate-intellectual disability
  79135	Episodic ataxia type 3
  324381	Hereditary inclusion body myopathy type 4
  1466	COFS syndrome
  436141	Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome
  2764	Osteochondritis dissecans
  504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
  2750	Orofaciodigital syndrome type 1
  2997	Ptosis-vocal cord paralysis syndrome
  261222	Distal 16p11.2 microdeletion syndrome
  98829	Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
  454887	Corticobasal syndrome
  99070	Aorto-right ventricular tunnel
  3344	Weismann-Netter syndrome
  3417	Van den Bosch syndrome
  99121	Azygos continuation of the inferior vena cava
  845	Tay-Sachs disease
  243343	Dimethylglycine dehydrogenase deficiency
  77301	Monosomy 9q22.3
  2254	Pontocerebellar hypoplasia type 1
  52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
  1448	Ring chromosome 6 syndrome
  168555	Spondylometaphyseal dysplasia, A4 type
  2884	Piebaldism
  325124	Testicular agenesis
  324416	Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome
  98832	Acute myeloid leukemia with minimal differentiation
  307967	Punctate palmoplantar keratoderma
  264580	Glycogen storage disease due to liver phosphorylase kinase deficiency
  357001	19p13.13 microdeletion syndrome
  97341	Persistent placoid maculopathy
  1184	Ataxia-photosensitivity-short stature syndrome
  85451	ATTRV122I amyloidosis
  3027	Caudal regression syndrome
  86920	Dermatopathia pigmentosa reticularis
  1018	X-linked Alport syndrome-diffuse leiomyomatosis
  238305	Infundibulo-neurohypophysitis
  35120	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
  495	Transgrediens et progrediens palmoplantar keratoderma
  93329	Autosomal recessive omodysplasia
  1329	Complete atrioventricular septal defect
  228272	Primary anetoderma
  36236	Staphylococcal scalded skin syndrome
  391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
  85191	Singleton-Merten dysplasia
  363623	GMPPB-related limb-girdle muscular dystrophy R19
  408	Isolated glycerol kinase deficiency
  444	Marie Unna hereditary hypotrichosis
  454836	Avian influenza
  319325	Tubulocystic renal cell carcinoma
  3151	Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome
  1506	Thin ribs-tubular bones-dysmorphism syndrome
  2053	Freeman-Sheldon syndrome
  199257	Superficial fibromatosis
  34514	Telethonin-related limb-girdle muscular dystrophy R7
  1359	Carney complex
  247815	Autosomal recessive ataxia due to PEX10 deficiency
  268129	Spheroid body myopathy
  1453	Cleidorhizomelic syndrome
  40	Acromesomelic dysplasia, Maroteaux type
  206644	Progressive muscular dystrophy
  37612	Episodic ataxia type 1
  494424	Extracranial carotid artery aneurysm
  79126	Acute interstitial pneumonia
  206538	Malignant non-dysgerminomatous germ cell tumor of ovary
  440731	L-ferritin deficiency
  217399	Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation
  468684	CCDC115-CDG
  1916	Diethylstilbestrol syndrome
  75325	Osteosclerosis-ichthyosis-premature ovarian failure syndrome
  565909	Calpain-3-related limb-girdle muscular dystrophy D4
  90348	Autosomal dominant cutis laxa
  79256	GM1 gangliosidosis type 2
  169139	Transient hypogammaglobulinemia of infancy
  251679	Astroblastoma
  448010	CAD-CDG
  79499	Autosomal dominant deafness-onychodystrophy syndrome
  2475	White forelock with malformations
  3465	Worster-Drought syndrome
  1822	Dysplasia epiphysealis hemimelica
  96180	Maternal uniparental disomy of chromosome 4
  363677	Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
  254492	Frontal fibrosing alopecia
  498228	Phyllodes tumor of the prostate
  98904	Congenital myopathy with excess of thin filaments
  1988	Femoral-facial syndrome
  89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
  163654	Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome
  93321	Radial hemimelia
  79254	Classic phenylketonuria
  1980	Bilateral striopallidodentate calcinosis
  502437	4q25 proximal deletion syndrome
  1826	Frontometaphyseal dysplasia
  294983	Acheiria
  141327	Orofaciodigital syndrome type 12
  2400	Peripheral motor neuropathy-dysautonomia syndrome
  65753	Charcot-Marie-Tooth disease type 1
  911	Combined immunodeficiency due to ZAP70 deficiency
  2479	Megalocornea-intellectual disability syndrome
  169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
  2224	Hypertryptophanemia
  2919	Orofaciodigital syndrome type 5
  85325	X-linked intellectual disability, Stevenson type
  86884	Subcutaneous panniculitis-like T-cell lymphoma
  431140	X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
  502318	Cochlear nerve deficiency
  1435	Xq21 microdeletion syndrome
  628	Diastrophic dysplasia
  83461	Congenital primary aphakia
  518	Acute megakaryoblastic leukemia
  98879	Hemophilia B
  42062	Iminoglycinuria
  71289	Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
  221091	Trigeminal neuralgia
  2066	Gamma-aminobutyric acid transaminase deficiency
  352662	Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
  2549	Oculoauriculovertebral spectrum with radial defects
  53296	Familial cutaneous collagenoma
  431347	Urachal diverticulum
  1067	Aniridia-ptosis-intellectual disability-familial obesity syndrome
  2075	Genitopalatocardiac syndrome
  319462	Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
  98686	Congenital trochlear nerve palsy
  289601	Hereditary arterial and articular multiple calcification syndrome
  319651	Constitutional megaloblastic anemia with severe neurologic disease
  37	Acrodermatitis enteropathica
  2232	Primary hypergonadotropic hypogonadism-partial alopecia syndrome
  166412	Hot water reflex epilepsy
  79272	Sanfilippo syndrome type D
  135	CACH syndrome
  369873	Obesity due to SIM1 deficiency
  317473	Pancytopenia due to IKZF1 mutations
  521127	Osteoradionecrosis of the mandible
  2538	Microgastria-limb reduction defect syndrome
  49566	Acquired purpura fulminans
  314613	Growing teratoma syndrome
  141046	Cervical dermoid cyst
  104008	Short bowel syndrome
  181428	Hyperalphalipoproteinemia
  66646	Cutaneous mastocytosis
  1915	Fetal alcohol syndrome
  650	LCAT deficiency
  284271	Autosomal recessive cerebellar ataxia-psychomotor delay syndrome
  77292	Infantile neurovisceral acid sphingomyelinase deficiency
  163708	Cryptogenic late-onset epileptic spasms
  1135	Arrhinia-choanal atresia-microphthalmia syndrome
  828	Stickler syndrome
  62	Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3
  2557	Mietens syndrome
  3337	Primary Fanconi renotubular syndrome
  99057	Congenital mitral stenosis
  874	Primary adult heart tumor
  648	Noonan syndrome
  401973	MEND syndrome
  2109	Hallermann-Streiff-like syndrome
  488594	Autosomal recessive spastic paraplegia type 76
  485405	16p12.1p12.3 triplication syndrome
  1410	Uncombable hair syndrome
  494428	Idiopathic pleuroparenchymal fibroelastosis
  306431	Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies
  3218	Deafness-epiphyseal dysplasia-short stature syndrome
  2487	Lower limb malformation-hypospadias syndrome
  1547	Cryptomicrotia-brachydactyly-excess fingertip arch syndrome
  2900	Leri pleonosteosis
  3166	Sialuria
  2496	Mesomelia-synostoses syndrome
  280620	Progressive myoclonic epilepsy type 6
  73271	Bleeding diathesis due to a collagen receptor defect
  412206	Primary failure of tooth eruption
  75376	Familial drusen
  66625	Cerebrooculonasal syndrome
  508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
  452	X-linked lissencephaly with abnormal genitalia
  263665	NK-cell enteropathy
  36234	Bacterial toxic-shock syndrome
  466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
  251370	Sickle cell-hemoglobin D disease syndrome
  100974	FRAXF syndrome
  180139	Uterine hypoplasia
  2074	Gemignani syndrome
  611	Inclusion body myositis
  98969	Macular corneal dystrophy
  401959	Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
  1205	Mitral atresia
  251038	3q29 microduplication syndrome
  7	3C syndrome
  268366	Closed iniencephaly
  3280	Syringomyelia
  276145	Malignant epithelial tumor of salivary glands
  158011	Necrobiotic xanthogranuloma
  99735	Myotonia permanens
  357225	Primary non-essential cutis verticis gyrata
  2792	Otofaciocervical syndrome
  1812	Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
  99828	Dengue fever
  1068	Aniridia-intellectual disability syndrome
  531	Miller-Dieker syndrome
  499009	Congenital syphilis
  1063	Tufted angioma
  3268	Radioulnar synostosis-microcephaly-scoliosis syndrome
  96169	Koolen-De Vries syndrome
  308425	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
  481665	USP18 deficiency
  95707	Idiopathic isolated micropenis
  3376	Triploidy
  217026	Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type
  55	Oculocutaneous albinism
  766	Hemolytic anemia due to red cell pyruvate kinase deficiency
  370933	GM3 synthase deficiency
  500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
  213	Cystinosis
  324525	Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation
  2348	Familial partial lipodystrophy, Dunnigan type
  2587	Myeloperoxidase deficiency
  401777	Optic atrophy-intellectual disability syndrome
  583097	Congenital infiltrating lipomatosis of the face
  431320	Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder
  85192	Calvarial doughnut lesions-bone fragility syndrome
  86873	Aggressive NK-cell leukemia
  220	Denys-Drash syndrome
  93269	Short rib-polydactyly syndrome, Majewski type
  166305	Benign infantile seizures associated with mild gastroenteritis
  526	Liddle syndrome
  300605	Juvenile amyotrophic lateral sclerosis
  3169	Sirenomelia
  749	Congenital prekallikrein deficiency
  141330	Orofaciodigital syndrome type 13
  217340	17q21.31 microduplication syndrome
  99843	Leukocyte adhesion deficiency type II
  3186	Holoprosencephaly-radial heart renal anomalies syndrome
  347	Frasier syndrome
  166093	Von Willebrand disease type 2N
  3082	Intellectual disability-polydactyly-uncombable hair syndrome
  1797	Autosomal dominant spondylocostal dysostosis
  369897	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
  255235	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
  397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
  2435	Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome
  1451	CINCA syndrome
  1441	Ring chromosome 17 syndrome
  181	X-linked hypohidrotic ectodermal dysplasia
  319465	Inherited acute myeloid leukemia
  495844	C11ORF73-related autosomal recessive hypomyelinating leukodystrophy
  523	Hereditary leiomyomatosis and renal cell cancer
  3275	Spondylocarpotarsal synostosis
  1203	Duodenal atresia
  603	Distal myopathy, Welander type
  423	Malignant hyperthermia of anesthesia
  653	Multiple endocrine neoplasia type 2
  79087	Acquired partial lipodystrophy
  289	Ellis Van Creveld syndrome
  499103	Recurrent idiopathic neuroretinitis
  93969	Open spinal dysraphism with a myelomeningocele
  1143	Neurogenic arthrogryposis multiplex congenita
  229	Familial aortic dissection
  98249	Ehlers-Danlos syndrome
  447774	Secondary sclerosing cholangitis
  75858	MORM syndrome
  268861	Primary tethered cord syndrome
  488618	Transketolase deficiency
  725	Continuous spikes and waves during sleep
  1261	Bonnemann-Meinecke-Reich syndrome
  168999	Malignant melanoma of the mucosa
  198	Occipital horn syndrome
  542585	Auditory neuropathy-optic atrophy syndrome
  232	Sickle cell anemia
  169186	Autosomal recessive centronuclear myopathy
  53689	Congenital chloride diarrhea
  397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
  261311	20q13.33 microdeletion syndrome
  93976	Anotia
  794	Saethre-Chotzen syndrome
  2886	TARP syndrome
  178464	Hereditary myopathy with early respiratory failure
  90291	Systemic sclerosis
  306504	Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome
  89936	X-linked hypophosphatemia
  458792	Mixed cystic lymphatic malformation
  111	Barth syndrome
  79403	Junctional epidermolysis bullosa with pyloric atresia
  88619	Familial acute necrotizing encephalopathy
  79452	Milroy disease
  221046	Poikiloderma with neutropenia
  79321	ALG3-CDG
  280403	Familial omphalocele syndrome with facial dysmorphism
  1715	Trisomy 18p
  420794	Cono-spondylar dysplasia
  401859	Lipoic acid synthetase deficiency
  50839	Cat-scratch disease
  279888	Acute endophthalmitis
  93356	Spondyloepimetaphyseal dysplasia, Missouri type
  220448	Macrothrombocytopenia with mitral valve insufficiency
  79473	Porphyria variegata
  735	Porokeratosis of Mibelli
  221	Dermatomyositis
  1856	Spondyloperipheral dysplasia-short ulna syndrome
  97214	Eisenmenger syndrome
  95506	Primary hypophysitis
  401935	14q24.1q24.3 microdeletion syndrome
  304	Epidermolysis bullosa simplex
  79447	X-linked lethal multiple pterygium syndrome
  1325	Camptodactyly-taurinuria syndrome
  96183	Maternal uniparental disomy of chromosome 9
  2297	Insulin-resistance syndrome type A
  1895	Edinburgh malformation syndrome
  221126	Fowler vasculopathy
  63260	Craniorachischisis
  88620	Isolated congenital anosmia
  163937	X-linked intellectual disability, Najm type
  370026	Acute myeloid leukemia with t(8;16)(p11;p13) translocation
  99324	Paternal uniparental disomy of chromosome 13
  439175	Pediatric arterial ischemic stroke
  2016	Cleft palate-lateral synechia syndrome
  85438	Enthesitis-related juvenile idiopathic arthritis
  1747	Mosaic trisomy 7
  79083	PPARG-related familial partial lipodystrophy
  85322	X-linked intellectual disability, Pai type
  481662	Familial Chilblain lupus
  3164	Omphalocele syndrome, Shprintzen-Goldberg type
  238446	15q11q13 microduplication syndrome
  228293	Pseudoxanthoma elasticum-like papillary dermal elastolysis
  373	Simpson-Golabi-Behmel syndrome
  569	Familial or sporadic hemiplegic migraine
  114	Auriculoosteodysplasia
  2980	Acrootoocular syndrome
  90156	Centrifugal lipodystrophy
  988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
  1929	Rasmussen subacute encephalitis
  1908	Aminopterin/methotrexate embryofetopathy
  564003	Osteochondrosis of the metatarsal bone
  752	46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
  294	Fetal cytomegalovirus syndrome
  93297	Hypochondrogenesis
  83616	Rubella panencephalitis
  137932	Congenital laryngeal palsy
  542323	CAR T cell therapy-associated cytokine release syndrome
  1305	Feingold syndrome
  228254	Elastoma
  50811	Lipodystrophy-intellectual disability-deafness syndrome
  141209	Diffuse lymphatic malformation
  100999	Autosomal dominant spastic paraplegia type 19
  79230	HJV or HAMP-related hemochromatosis
  97340	Hunter-McAlpine syndrome
  562559	Anterior maxillary protrusion-strabismus-intellectual disability syndrome
  261330	Distal 22q11.2 microdeletion syndrome
  449280	Scedosporiosis
  85458	Hereditary cerebral hemorrhage with amyloidosis
  63275	Pemphigoid gestationis
  728	Relapsing polychondritis
  247667	Childhood-onset hypophosphatasia
  569290	Multiple mitochondrial dysfunctions syndrome type 6
  3339	Toriello-Lacassie-Droste syndrome
  98815	Benign childhood occipital epilepsy, Panayiotopoulos type
  101010	Autosomal spastic paraplegia type 30
  64743	Hepatoportal sclerosis
  424991	Adenocarcinoma of the gallbladder and extrahepatic biliary tract
  96060	Mosaic trisomy 5
  97	Familial paroxysmal ataxia
  99120	Persistent eustachian valve
  85199	Craniosynostosis-anal anomalies-porokeratosis syndrome
  2723	Odontotrichomelic syndrome
  1493	Vici syndrome
  83597	Acute disseminated encephalomyelitis
  2117	Hartsfield syndrome
  544628	Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome
  2963	Progeroid syndrome, Petty type
  404443	Tatton-Brown-Rahman syndrome
  99951	Charcot-Marie-Tooth disease type 4E
  163985	Hyperekplexia-epilepsy syndrome
  97548	Right sided atrial isomerism
  85166	Platyspondylic dysplasia, Torrance type
  188	Systemic capillary leak syndrome
  60	Alpha-1-antitrypsin deficiency
  329211	Autosomal dominant neovascular inflammatory vitreoretinopathy
  58040	Osteoblastoma
  824	Primary myelofibrosis
  231013	Congenital trigeminal anesthesia
  141007	Orofaciodigital syndrome type 9
  2759	Imperforate oropharynx-costovertebral anomalies syndrome
  141145	Hemifacial hyperplasia
  314029	High bone mass osteogenesis imperfecta
  83594	Eastern equine encephalitis
  2323	Sanjad-Sakati syndrome
  99141	Lymphedema-posterior choanal atresia syndrome
  228179	Autosomal dominant Charcot-Marie-Tooth disease type 2M
  3190	Subpulmonary stenosis
  90674	Isolated thyroid-stimulating hormone deficiency
  398147	Persistent idiopathic facial pain
  171445	Muscle filaminopathy
  364043	ALK-positive large B-cell lymphoma
  221039	Hereditary sclerosing poikiloderma, Weary type
  411696	Proton-pump inhibitor-responsive esophageal eosinophilia
  158000	Juvenile xanthogranuloma
  314432	Spigelian hernia-cryptorchidism syndrome
  210128	Urocanic aciduria
  1653	Dentin dysplasia
  98880	Familial afibrinogenemia
  370039	Angora hair nevus
  238	Digestive duplication
  98973	Posterior polymorphous corneal dystrophy
  67046	3-methylglutaconic aciduria type 1
  213807	Leiomyosarcoma of the cervix uteri
  171723	White sponge nevus
  970	Hereditary sensory and autonomic neuropathy type 2
  632	Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
  398079	SIM1-related Prader-Willi-like syndrome
  295002	Hyperphalangy
  529962	17q24.2 microdeletion syndrome
  499085	Chronic relapsing inflammatory optic neuropathy
  95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  761	Immunoglobulin A vasculitis
  860	Congenitally uncorrected transposition of the great arteries
  529977	Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome
  99179	Kandori fleck retina
  85410	Oligoarticular juvenile idiopathic arthritis
  508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
  139515	Charcot-Marie-Tooth disease type 4J
  251066	8p11.2 deletion syndrome
  182095	Interstitial lung disease
  457223	Syndromic sensorineural deafness due to combined oxidative phosphorylation defect
  140966	Palmoplantar keratoderma, Nagashima type
  1538	Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
  85283	X-linked intellectual disability, Miles-Carpenter type
  499	Kerion celsi
  166100	Autosomal dominant otospondylomegaepiphyseal dysplasia
  261337	Distal 22q11.2 microduplication syndrome
  63259	Iniencephaly
  2849	Perlman syndrome
  439202	Non-recovering obstetric brachial plexus lesion
  443988	Ventriculomegaly-cystic kidney disease
  100082	Neuroendocrine tumor of anal canal
  792	X-linked retinoschisis
  95854	Levocardia
  418951	Undifferentiated carcinoma of esophagus
  576242	Intermediate atrioventricular septal defect
  397725	COASY protein-associated neurodegeneration
  448251	Progressive autosomal recessive ataxia-deafness syndrome
  391330	X-linked osteoporosis with fractures
  309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
  901	Wells syndrome
  139436	Multicentric reticulohistiocytosis
  79118	Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome
  306734	Primary dystonia, DYT21 type
  477817	PMP22-RAI1 contiguous gene duplication syndrome
  397951	Microcephaly-thin corpus callosum-intellectual disability syndrome
  3316	Thomas syndrome
  284	Alveolar echinococcosis
  252212	Malignant triton tumor
  45	Adenosine monophosphate deaminase deficiency
  420402	Semicircular canal dehiscence syndrome
  79389	Premature aging
  1031	Enamel-renal syndrome
  97239	Reducing body myopathy
  75508	Angioosteohypotrophic syndrome
  363412	Hypomyelination with brain stem and spinal cord involvement and leg spasticity
  675	Annular pancreas
  363483	Testicular teratoma
  88918	Autosomal dominant Alport syndrome
  49804	Lichen amyloidosis
  519410	Terrien marginal degeneration
  2824	Paraplegia-intellectual disability-hyperkeratosis syndrome
  456312	Infantile multisystem neurologic-endocrine-pancreatic disease
  502363	Squamous cell carcinoma of the oral cavity
  447961	Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
  754	Androgen insensitivity syndrome
  443236	Postural orthostatic tachycardia syndrome due to NET deficiency
  79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
  210548	Macrocephaly-intellectual disability-autism syndrome
  251915	Papillary tumor of the pineal region
  208524	Herpetiform pemphigus
  2015	Cleft palate-short stature-vertebral anomalies syndrome
  443159	Lymphoplasmacytic lymphoma without IgM production
  254704	Genetic hyperferritinemia without iron overload
  309025	Mevalonate kinase deficiency
  284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form
  166119	Isolated osteopoikilosis
  210163	Congenital lethal myopathy, Compton-North type
  251598	Protoplasmic astrocytoma
  1335	Pentalogy of Cantrell
  96167	Recombinant 8 syndrome
  319244	Chapare hemorrhagic fever
  2547	Microphthalmia-microtia-fetal akinesia syndrome
  3202	Dehydrated hereditary stomatocytosis
  251630	Anaplastic oligodendroglioma
  98907	Neutral lipid storage disease with ichthyosis
  37559	Acquired kinky hair syndrome
  280062	Calciphylaxis
  913	Zollinger-Ellison syndrome
  3162	Sézary syndrome
  495879	Congenital agenesis of the scrotum
  100051	Hereditary angioedema type 2
  31709	Infantile convulsions and choreoathetosis
  95232	Lissencephaly due to LIS1 mutation
  168486	Congenital neuronal ceroid lipofuscinosis
  140949	Low-flow priapism
  3365	Trigonocephaly-broad thumbs syndrome
  101081	Charcot-Marie-Tooth disease type 1A
  85193	Idiopathic juvenile osteoporosis
  261519	Maternal uniparental disomy of chromosome X
  572428	Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia
  171673	Limbal stem cell deficiency
  93307	Multiple epiphyseal dysplasia type 4
  424982	Biliary cystadenocarcinoma
  883	Extragonadal teratoma
  90652	Otopalatodigital syndrome type 2
  268826	Parietal encephalocele
  64686	Tolosa-Hunt syndrome
  47045	Familial cold urticaria
  436159	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
  96109	Distal duplication 22q
  528	Congenital generalized lipodystrophy
  99050	Abnormal origin of right or left pulmonary artery from the aorta
  543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
  53	Albers-Schönberg osteopetrosis
  95719	Thyroid hemiagenesis
  209978	Alternating hemiplegia
  444458	Combined oxidative phosphorylation defect type 24
  1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
  3386	American trypanosomiasis
  2464	Marfanoid syndrome, De Silva type
  2085	Glaucoma-sleep apnea syndrome
  276152	Multiple endocrine neoplasia type 4
  99081	Right aortic arch
  289869	Disorder of ornithine metabolism
  9	Tetrasomy X
  90	Argininemia
  100998	Autosomal dominant spastic paraplegia type 17
  95613	Pituitary apoplexy
  329874	Idiopathic giant cell myocarditis
  101	Dentatorubral pallidoluysian atrophy
  2777	Osteomesopyknosis
  569248	Microcystic stromal tumor
  90340	Blau syndrome
  494547	Squamous cell carcinoma of the hypopharynx
  52688	Myelodysplastic syndrome
  53697	Gnathodiaphyseal dysplasia
  99903	Spirillary rat-bite fever
  508410	Familial intestinal malrotation
  92050	Congenital tufting enteropathy
  33001	Lymphedema-distichiasis syndrome
  443291	HIV-associated cancer
  3143	Autoimmune polyendocrinopathy type 2
  480524	Idiopathic peliosis hepatis
  93599	Primary hyperoxaluria type 2
  93405	Syndactyly type 4
  90021	Radiation myelitis
  93598	Primary hyperoxaluria type 1
  2216	Maternal hyperthermia-induced birth defects
  319547	Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
  99842	Leukocyte adhesion deficiency type I
  317476	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
  171700	Diffuse panbronchiolitis
  250999	1q41q42 microdeletion syndrome
  300536	DDOST-CDG
  139411	Carney triad
  95700	Familial adrenal hypoplasia with absent pituitary luteinizing hormone
  294060	Multiple pterygium syndrome
  180247	Vaginal carcinoma
  1574	Retinal degeneration-nanophthalmos-glaucoma syndrome
  228165	Baló concentric sclerosis
  308487	Generalized galactose epimerase deficiency
  244305	Dominant hypophosphatemia with nephrolithiasis or osteoporosis
  199267	Infantile digital fibromatosis
  244283	Biliary atresia with splenic malformation syndrome
  261323	21q22.11q22.12 microdeletion syndrome
  247868	NLRP12-associated hereditary periodic fever syndrome
  97349	Postencephalitic parkinsonism
  538963	Combined immunodeficiency due to ITK deficiency
  709	Peters plus syndrome
  1597	Distal deletion 17q
  251009	Maternal uniparental disomy of chromosome 1
  447881	Idiopathic dropped head syndrome
  216796	Osteogenesis imperfecta type 1
  247762	Lipoblastoma
  557064	Neonatal epileptic encephalopathy due to glutaminase deficiency
  93110	Posterior urethral valve
  423786	Undifferentiated carcinoma of stomach
  85446	Wild type ABeta2M amyloidosis
  701	Alopecia universalis
  293168	Infantile-onset ascending hereditary spastic paralysis
  506090	Serotonin-producing neuroendocrine tumor of pancreas
  1052	Mosaic variegated aneuploidy syndrome
  93622	Dent disease type 1
  91139	Simple cryoglobulinemia
  352470	DNA2-related mitochondrial DNA deletion syndrome
  79150	Linear and whorled nevoid hypermelanosis
  99131	Pleuro-pericardial cyst
  576278	SATB2-associated syndrome
  98967	Schnyder corneal dystrophy
  99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2
  353220	Familial primary localized cutaneous amyloidosis
  57777	Cirrhotic cardiomyopathy
  289390	Primary Sjögren syndrome
  251880	Ependymoblastoma
  254875	Mitochondrial DNA depletion syndrome, myopathic form
  97355	Caribbean parkinsonism
  448267	Regressive spondylometaphyseal dysplasia
  141261	Tessier number 5 facial cleft
  2314	Autosomal dominant hyper-IgE syndrome
  3361	Trichodysplasia-xeroderma syndrome
  94087	Cytophagic histiocytic panniculitis
  500135	Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
  180226	Embryonal carcinoma
  99926	Gestational choriocarcinoma
  99084	Peripheral pulmonary stenosis
  331226	Susceptibility to infection due to TYK2 deficiency
  98912	Late-onset distal myopathy, Markesbery-Griggs type
  477738	Pediatric multiple sclerosis
  140	Campomelic dysplasia
  79095	Congenital bile acid synthesis defect type 4
  79179	Disorder of glycerol metabolism
  527468	Diaphragmatic hernia-short bowel-asplenia syndrome
  2098	Acromesomelic dysplasia, Grebe type
  508501	Oral-facial-digital syndrome with short stature and brachymesophalangy
  26790	Pseudomyxoma peritonei
  528623	Hereditary angioedema with C1Inh deficiency
  1231	Barber-Say syndrome
  64744	IgG4-related thyroid disease
  58	Alexander disease
  401805	Autosomal recessive spastic paraplegia type 63
  75566	Loeffler endocarditis
  1987	Femoral agenesis/hypoplasia
  368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency
  465508	Symptomatic form of HFE-related hemochromatosis
  352636	Phalangeal microgeodic syndrome
  498251	Menstrual cycle-dependent periodic fever
  83639	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
  207	Crouzon syndrome
  157791	Epithelioid hemangioendothelioma
  2010	Cleft palate-stapes fixation-oligodontia syndrome
  363489	Sex cord-stromal tumor of testis
  324561	Hypopigmentation-punctate palmoplantar keratoderma syndrome
  2044	Floating-Harbor syndrome
  314566	Primary progressive apraxia of speech
  2838	Renal caliceal diverticuli-deafness syndrome
  2746	Opsismodysplasia
  99803	Haddad syndrome
  79154	2-aminoadipic 2-oxoadipic aciduria
  96176	Ring chromosome 13 syndrome
  438134	PCNA-related progressive neurodegenerative photosensitivity syndrome
  443197	X-linked erythropoietic protoporphyria
  466718	Martinique crinkled retinal pigment epitheliopathy
  779	Reynolds syndrome
  790	Retinoblastoma
  276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
  2494	Ménétrier disease
  314667	TMEM165-CDG
  306558	Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
  319303	Chromophobe renal cell carcinoma
  306686	Delayed encephalopathy due to carbon monoxide poisoning
  140471	Hereditary sensory and autonomic neuropathy
  314473	Ovarian fibroma
  786	Generalized glucocorticoid resistance syndrome
  93314	Spondylometaphyseal dysplasia, Kozlowski type
  60033	Idiopathic bronchiectasis
  401815	Autosomal recessive spastic paraplegia type 66
  39044	Uveal melanoma
  178389	Osteopetrosis-hypogammaglobulinemia syndrome
  1488	Cooper-Jabs syndrome
  466784	Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect
  449427	IgG4-related pachymeningitis
  86909	Myoclonic epilepsy of infancy
  85184	Craniometadiaphyseal dysplasia, wormian bone type
  100986	Autosomal recessive spastic paraplegia type 5A
  79270	Sanfilippo syndrome type B
  88659	Autosomal dominant progressive nephropathy with hypertension
  420584	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
  488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
  38	Acrokeratoelastoidosis of Costa
  64694	Trench fever
  2073	Narcolepsy type 1
  366	Glycogen storage disease due to glycogen debranching enzyme deficiency
  264691	Isolated pulmonary capillaritis
  411709	Renal agenesis
  519408	Mooren ulcer
  528663	Acquired angioedema with C1Inh deficiency
  3237	Multiple synostoses syndrome
  3130	Satoyoshi syndrome
  401996	Karyomegalic interstitial nephritis
  391411	Atypical juvenile parkinsonism
  1278	Brachydactyly-preaxial hallux varus syndrome
  319251	Rift valley fever
  2110	Hallux varus-preaxial polysyndactyly syndrome
  280598	Hereditary sensorimotor neuropathy with hyperelastic skin
  3262	Dobrow syndrome
  68	Amoebiasis due to free-living amoebae
  99941	Autosomal dominant Charcot-Marie-Tooth disease type 2G
  91483	Rieger anomaly
  2930	Cronkhite-Canada syndrome
  254361	Plectin-related limb-girdle muscular dystrophy R17
  300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
  199627	Atypical autism
  93271	Short rib-polydactyly syndrome, Verma-Naumoff type
  93402	Syndactyly type 1
  101078	X-linked Charcot-Marie-Tooth disease type 4
  1759	Thoraco-abdominal enteric duplication
  35698	Mitochondrial DNA depletion syndrome
  75389	Brain malformation-congenital heart disease-postaxial polydactyly syndrome
  563612	Isolated exencephaly
  750	Pseudoachondroplasia
  457406	Multiple mitochondrial dysfunctions syndrome type 4
  180142	Absence of uterine body
  79503	Ichthyosis hystrix of Curth-Macklin
  1782	Dysosteosclerosis
  3248	Distal symphalangism
  66624	PANDAS
  565837	Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23
  289504	Combined malonic and methylmalonic acidemia
  66629	Goldberg-Shprintzen megacolon syndrome
  217017	Zechi-Ceide syndrome
  1806	Ectodermal dysplasia-blindness syndrome
  133	Chronic beryllium disease
  367	Glycogen storage disease due to glycogen branching enzyme deficiency
  79235	Crigler-Najjar syndrome type 2
  485358	Propylthiouracil embryofetopathy
  2673	Neurofaciodigitorenal syndrome
  228116	Hughes-Stovin syndrome
  289877	Transient hyperammonemia of the newborn
  351	Galactosialidosis
  263534	Acral peeling skin syndrome
  206428	Hypoxanthine-guanine phosphoribosyltransferase deficiency
  168811	Malignant peritoneal mesothelioma
  1101	Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
  1949	Benign familial neonatal epilepsy
  251307	Idiopathic recurrent pericarditis
  3384	Truncus arteriosus
  363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
  1366	Autosomal recessive palmoplantar keratoderma and congenital alopecia
  324313	9p13 microdeletion syndrome
  166424	Thinking seizures
  427	Familial hypoaldosteronism
  2084	Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome
  3261	Autoimmune lymphoproliferative syndrome
  377	Gorlin syndrome
  99886	Transient neonatal diabetes mellitus
  567502	B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome
  99981	Apnea of prematurity
  93396	Brachydactyly type A2
  1865	Dyssegmental dysplasia, Silverman-Handmaker type
  33226	Waldenström macroglobulinemia
  102724	Acute myeloid leukemia with t(8;21)(q22;q22) translocation
  99014	X-linked Charcot-Marie-Tooth disease type 5
  280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16
  53372	Hereditary geniospasm
  199241	Pulmonary capillary hemangiomatosis
  36899	Myoclonus-dystonia syndrome
  79191	Disorder of purine metabolism
  565	Menkes disease
  357064	Autosomal recessive cutis laxa type 2B
  245	Nager syndrome
  99647	Cheirospondyloenchondromatosis
  1842	Bone dysplasia, lethal Holmgren type
  99135	6-phosphogluconate dehydrogenase deficiency
  70482	Carcinoma of esophagus
  52901	Isolated follicle stimulating hormone deficiency
  87884	Non-syndromic genetic deafness
  165955	Wound myiasis
  314597	Chudley-McCullough syndrome
  247511	Autosomal dominant secondary polycythemia
  247598	Neonatal intrahepatic cholestasis due to citrin deficiency
  213512	Malignant mixed Müllerian tumor of the ovary
  2704	Ochoa syndrome
  369881	2p21 microdeletion syndrome without cystinuria
  100991	Autosomal dominant spastic paraplegia type 10
  401920	Fibrolamellar hepatocellular carcinoma
  352596	Progressive myoclonic epilepsy with dystonia
  260305	Autosomal recessive sideroblastic anemia
  171851	MEDNIK syndrome
  213802	Rhabdomyosarcoma of the cervix uteri
  1129	Arachnodactyly-abnormal ossification-intellectual disability syndrome
  1121	Radial deficiency-tibial hypoplasia syndrome
  79314	L-2-hydroxyglutaric aciduria
  2037	Congenital aortopulmonary window
  1112	Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
  313846	Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome
  572798	WARS2-related combined oxidative phosphorylation defect
  2666	Adult familial nephronophthisis-spastic quadriparesia syndrome
  2891	Pili torti-developmental delay-neurological abnormalities syndrome
  319487	Familial papillary or follicular thyroid carcinoma
  2485	Melorheostosis
  70567	Cholangiocarcinoma
  1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
  86814	Benign adult familial myoclonic epilepsy
  100006	ABeta amyloidosis, Dutch type
  98839	Intravascular large B-cell lymphoma
  2970	Prune belly syndrome
  99688	Dermotrichic syndrome
  139589	Distal hereditary motor neuropathy type 7
  99921	Chronic graft versus host disease
  163927	Pustulosis palmaris et plantaris
  2235	Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
  79159	Isobutyryl-CoA dehydrogenase deficiency
  2477	Megalencephaly
  329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
  251579	Giant cell glioblastoma
  319667	Primary lymphoma of the conjunctiva
  320360	MT-ATP6-related mitochondrial spastic paraplegia
  391665	Homozygous familial hypercholesterolemia
  2321	Jung syndrome
  43393	Lambert-Eaton myasthenic syndrome
  101109	Spinocerebellar ataxia type 28
  225123	TFR2-related hemochromatosis
  494418	Vulvar carcinoma
  295047	Macrodactyly of toes
  737	Porokeratosis plantaris palmaris et disseminata
  1444	Ring chromosome 20 syndrome
  79277	Congenital erythropoietic porphyria
  2234	Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
  431166	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
  2573	Moyamoya disease
  93	Aspartylglucosaminuria
  1125	Ocular motor apraxia, Cogan type
  166260	Dentinogenesis imperfecta type 2
  1460	Isolated complex III deficiency
  93928	Isolated epispadias
  411593	Insulin autoimmune syndrome
  295036	Congenital patella dislocation
  99004	Fundus pulverulentus
  98995	Early-onset zonular cataract
  298	Mitochondrial neurogastrointestinal encephalomyopathy
  65682	Benign recurrent intrahepatic cholestasis
  353351	Idiopathic macular telangiectasia type 3
  156731	Dyssegmental dysplasia, Rolland-Desbuquois type
  244275	De novo thrombotic microangiopathy after kidney transplantation
  99062	Mitral valve agenesis
  79102	Thyrotoxic periodic paralysis
  132	Butyrylcholinesterase deficiency
  2846	Congenital pericardium anomaly
  139444	Leukoencephalopathy with bilateral anterior temporal lobe cysts
  1540	Jackson-Weiss syndrome
  182	Chromomycosis
  254892	Autosomal dominant progressive external ophthalmoplegia
  480556	Isolated neonatal sclerosing cholangitis
  86886	Angioimmunoblastic T-cell lymphoma
  477787	Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
  280654	Autosomal recessive nail dysplasia
  199276	Familial multiple lipomatosis
  538096	Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
  169095	Severe combined immunodeficiency due to FOXN1 deficiency
  2165	Holoprosencephaly-caudal dysgenesis syndrome
  98834	Acute myeloblastic leukemia with maturation
  164726	Acute myeloid leukemia and myelodysplastic syndromes related to radiation
  280917	Idiopathic posterior uveitis
  91496	Snowflake vitreoretinal degeneration
  220443	Bleeding diathesis due to thromboxane synthesis deficiency
  168966	Composite lymphoma
  435998	Autosomal recessive intermediate Charcot-Marie-Tooth disease type D
  1144	Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
  3378	Trisomy 13
  96100	Distal duplication 8q
  99885	Isolated permanent neonatal diabetes mellitus
  85203	Acropectoral syndrome
  99917	Theca steroid-producing cell malignant tumor of ovary, not further specified
  247651	Infantile hypophosphatasia
  98873	Congenital dyserythropoietic anemia type II
  238637	Megacystis-megaureter syndrome
  162526	Isolated congenital auditory ossicle malformation
  206994	Bacterial myositis
  84087	Collagen type III glomerulopathy
  88637	Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
  404437	Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
  849	Glanzmann thrombasthenia
  163703	Febrile infection-related epilepsy syndrome
  1873	Jalili syndrome
  79405	Junctional epidermolysis bullosa inversa
  280406	Familial steroid-resistant nephrotic syndrome with sensorineural deafness
  79084	Familial partial lipodystrophy, Köbberling type
  2737	Onchocerciasis
  3217	Deafness-small bowel diverticulosis-neuropathy syndrome
  98806	Primary dystonia, DYT6 type
  873	Desmoid tumor
  425120	STING-associated vasculopathy with onset in infancy
  97286	Carney-Stratakis syndrome
  93126	Pauci-immune glomerulonephritis
  412	Dysbetalipoproteinemia
  90020	Parkinson-dementia complex of Guam
  477742	Nodular fasciitis
  1373	Cataract-aberrant oral frenula-growth delay syndrome
  2836	PEHO syndrome
  498693	MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
  254925	Combined oxidative phosphorylation defect type 4
  1433	Choroidal atrophy-alopecia syndrome
  47044	Hereditary papillary renal cell carcinoma
  158061	Macrophage activation syndrome
  1310	Caffey disease
  99792	Dentin dysplasia-sclerotic bones syndrome
  1752	Trisomy 8q
  217382	Neurodegenerative syndrome due to cerebral folate transport deficiency
  75497	X-linked Ehlers-Danlos syndrome
  306731	Sydenham chorea
  519396	Isolated microspherophakia
  52429	Branchiootic syndrome
  79347	Chondrodysplasia punctata, Toriello type
  397593	Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
  2482	Melhem-Fahl syndrome
  447964	Autosomal dominant Charcot-Marie-Tooth disease type 2V
  306530	Congenital hereditary facial paralysis-variable hearing loss syndrome
  521219	Mirizzi syndrome
  2524	Pontocerebellar hypoplasia type 2
  500062	Infantile-onset periodic fever-panniculitis-dermatosis syndrome
  163934	Atopic keratoconjunctivitis
  1227	Bangstad syndrome
  171622	Autosomal recessive spastic paraplegia type 32
  86897	Langerhans cell sarcoma
  585867	Acute myeloid leukemia with t(9;22)(q34.1;q11.2)
  1259	Blepharoptosis-myopia-ectopia lentis syndrome
  538101	Congenital axonal neuropathy with encephalopathy
  1226	Bamforth-Lazarus syndrome
  386	Hepatic cystic hamartoma
  1993	Pai syndrome
  435953	Progeroid features-hepatocellular carcinoma predisposition syndrome
  2019	Femur-fibula-ulna complex
  369992	Severe dermatitis-multiple allergies-metabolic wasting syndrome
  137639	Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome
  179	Birdshot chorioretinopathy
  3063	X-linked intellectual disability, Snyder type
  180145	Uterine cervical aplasia and agenesis
  217330	REN-related autosomal dominant tubulointerstitial kidney disease
  364033	Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood
  458785	Partially involuting congenital hemangioma
  275	Severe combined immunodeficiency due to DCLRE1C deficiency
  476119	Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome
  95429	Angioma serpiginosum
  57	Glycogen storage disease due to aldolase A deficiency
  314993	Cataract-congenital heart disease-neural tube defect syndrome
  254346	19p13.12 microdeletion syndrome
  781	Q fever
  2345	Isolated Klippel-Feil syndrome
  220493	Joubert syndrome with ocular defect
  420566	Bleeding disorder due to CalDAG-GEFI deficiency
  98810	Paroxysmal non-kinesigenic dyskinesia
  1168	Ataxia-oculomotor apraxia type 1
  47159	Proximal renal tubular acidosis
  758	Pseudoxanthoma elasticum
  99098	Cor triatriatum dexter
  100085	Primary hepatic neuroendocrine carcinoma
  93583	Congenital thrombotic thrombocytopenic purpura
  2636	Microcephalic osteodysplastic primordial dwarfism types I and III
  294422	Chronic intestinal failure
  284400	Small cell carcinoma of the bladder
  98848	Indolent systemic mastocytosis
  85165	Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
  352723	Attenuated Chédiak-Higashi syndrome
  606	Proximal myotonic myopathy
  622	Homocystinuria without methylmalonic aciduria
  1028	Amelo-onycho-hypohidrotic syndrome
  1666	Dextrocardia
  542592	Necrobiosis lipoidica
  99170	Tarsal kink syndrome
  2596	Myopathy and diabetes mellitus
  33574	Glutamate-cysteine ligase deficiency
  530983	Lamb-Shaffer syndrome
  1872	Cone rod dystrophy
  1791	Frontofacionasal dysplasia
  2989	Familial pterygium of the conjunctiva
  209967	Episodic ataxia type 6
  1479	Atrial septal defect-atrioventricular conduction defects syndrome
  1787	Acrofacial dysostosis, Palagonia type
  231214	Beta-thalassemia major
  73246	Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
  251589	Anaplastic astrocytoma
  657	Congenital isolated hyperinsulinism
  90041	Gaisböck syndrome
  1457	Aorta coarctation
  261494	Kleefstra syndrome
  2197	Idiopathic hypercalciuria
  3101	Richieri Costa-da Silva syndrome
  1780	Thakker-Donnai syndrome
  356996	ANK3-related intellectual disability-sleep disturbance syndrome
  506307	Stromme syndrome
  521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect
  457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
  261183	15q11.2 microdeletion syndrome
  157820	Cold-induced sweating syndrome
  1667	Wolcott-Rallison syndrome
  399180	Secondary non-traumatic avascular necrosis
  75840	Congenital muscular dystrophy, Ullrich type
  3057	Monoamine oxidase A deficiency
  220465	Laron syndrome with immunodeficiency
  488434	Camptodactyly syndrome, Guadalajara type 3
  488280	14q32 duplication syndrome
  2206	Ankylosing vertebral hyperostosis with tylosis
  1436	X-linked skeletal dysplasia-intellectual disability syndrome
  404476	Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
  92	Juvenile idiopathic arthritis
  251004	Paternal uniparental disomy of chromosome 1
  166415	Audiogenic seizures
  99129	Congenital complete agenesis of pericardium
  389	Langerhans cell histiocytosis
  91130	Cardiomyopathy-hypotonia-lactic acidosis syndrome
  989	Hypoglossia-hypodactyly syndrome
  280325	Distal deletion 12p
  502305	Cochleovestibular malformation
  46487	Epidermolysis bullosa acquisita
  1912	Fetal hydantoin syndrome
  293822	MITF-related melanoma and renal cell carcinoma predisposition syndrome
  464329	Kaposiform lymphangiomatosis
  225154	Familial infantile bilateral striatal necrosis
  683	Progressive supranuclear palsy
  169157	T-B+ severe combined immunodeficiency due to CD45 deficiency
  91349	Non-functioning pituitary adenoma
  346	Quinquaud folliculitis decalvans
  369867	Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
  1528	Craniotelencephalic dysplasia
  178315	Undifferentiated embryonal sarcoma of the liver
  458803	Spinocerebellar ataxia type 42
  180134	Bicornuate uterus
  371428	Multicentric osteolysis-nodulosis-arthropathy spectrum
  397927	Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
  166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly
  2616	3M syndrome
  98849	Systemic mastocytosis with associated hematologic neoplasm
  90066	Pneumonia caused by Pseudomonas aeruginosa infection
  588	Muscle-eye-brain disease
  319319	Renal medullary carcinoma
  251279	Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome
  199296	Congenital isolated ACTH deficiency
  47	X-linked agammaglobulinemia
  644	NARP syndrome
  84081	Senior-Boichis syndrome
  440392	Interstitial lung disease due to SP-C deficiency
  141242	Paramedian nasal cleft
  984	Pulmonary agenesis
  2767	Carpotarsal osteochondromatosis
  231080	High-grade dysplasia in patients with Barrett esophagus
  453510	Congenital insensitivity to pain with severe intellectual disability
  480541	High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement
  64692	Oroya fever
  281139	Annular epidermolytic ichthyosis
  99060	Congenital unguarded mitral orifice
  254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
  199332	Endocrine-cerebro-osteodysplasia syndrome
  228285	Acquired cutis laxa
  99869	Thymic neuroendocrine carcinoma
  2489	Upper limb defect-eye and ear abnormalities syndrome
  141064	Lower lip fistula
  8	47,XYY syndrome
  97336	Panner disease
  2150	Hirschsprung disease-type D brachydactyly syndrome
  180261	Phyllodes tumor of the breast
  70	Proximal spinal muscular atrophy
  1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
  319574	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
  1899	Arthrochalasia Ehlers-Danlos syndrome
  506334	Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
  254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
  79151	Acrokeratosis verruciformis of Hopf
  1429	Benign hereditary chorea
  2917	Polydactyly-myopia syndrome
  2990	Autosomal recessive multiple pterygium syndrome
  59181	Sorsby pseudoinflammatory fundus dystrophy
  1208	Pulmonary atresia-intact ventricular septum syndrome
  79237	Galactokinase deficiency
  2180	Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome
  974	Adams-Oliver syndrome
  79358	Porokeratosis
  163976	X-linked intellectual disability, Van Esch type
  54251	Corticosteroid-sensitive aseptic abscess syndrome
  137834	Frank-Ter Haar syndrome
  1560	Cysticercosis
  284289	Adult-onset autosomal recessive cerebellar ataxia
  320355	Autosomal dominant spastic paraplegia type 41
  64753	Spinocerebellar ataxia with axonal neuropathy type 2
  642	Hereditary sensory and autonomic neuropathy type 4
  480512	Idiopathic ductopenia
  281201	Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
  140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome
  301	Ependymal tumor
  1711	Mosaic trisomy 17
  93473	Hurler syndrome
  401862	Lipoyl transferase 1 deficiency
  1383	Cataract-deafness-hypogonadism syndrome
  1037	Arthrogryposis multiplex congenita
  352654	Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
  293939	Distal Xq28 microduplication syndrome
  2151	Hirschsprung disease-ganglioneuroblastoma syndrome
  640	Hereditary neuropathy with liability to pressure palsies
  424065	Solid pseudopapillary carcinoma of pancreas
  2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome
  519	Acute myeloid leukemia
  2103	Guillain-Barré syndrome
  319192	Diencephalic-mesencephalic junction dysplasia
  34515	FKRP-related limb-girdle muscular dystrophy R9
  1487	Cooks syndrome
  96188	Maternal uniparental disomy of chromosome 22
  55880	Chondrosarcoma
  54370	Primary membranoproliferative glomerulonephritis
  1485	Arthrogryposis-hyperkeratosis syndrome, lethal form
  1590	Distal deletion 13q
  93474	Scheie syndrome
  117	Behçet disease
  67044	Thrombocytopenia with congenital dyserythropoietic anemia
  90023	Primary immunodeficiency syndrome due to LAMTOR2 deficiency
  97261	GRFoma
  31043	Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
  209	Cutis laxa
  498359	Aquagenic palmoplantar keratoderma
  2773	Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
  141071	Digestive duplication cyst of the tongue
  2412	Dislocation of the hip-dysmorphism syndrome
  3265	Humero-radial synostosis
  466921	Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome
  99887	Acute megakaryoblastic leukemia in Down syndrome
  565641	Primary desmosis coli
  83419	Proximal spinal muscular atrophy type 3
  314662	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
  261120	14q11.2 microdeletion syndrome
  398073	Prader-Willi-like syndrome
  213615	Rhabdomyosarcoma of the corpus uteri
  141265	Tessier number 6 facial cleft
  93270	Short rib-polydactyly syndrome, Saldino-Noonan type
  3299	Tetanus
  178345	Aromatase excess syndrome
  329284	Beta-propeller protein-associated neurodegeneration
  280576	Nestor-Guillermo progeria syndrome
  228399	8q12 microduplication syndrome
  53035	Caroli disease
  397587	Deep dermatophytosis
  93268	Short rib-polydactyly syndrome, Beemer-Langer type
  36387	Generalized epilepsy with febrile seizures-plus
  139552	Distal hereditary motor neuropathy, Jerash type
  3269	Congenital radioulnar synostosis
  36913	Autoimmune hypoparathyroidism
  252015	Choriocarcinoma of the central nervous system
  2218	Cervical hypertrichosis-peripheral neuropathy syndrome
  3402	Transient tyrosinemia of the newborn
  949	Acrocraniofacial dysostosis
  329249	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
  98755	Spinocerebellar ataxia type 1
  661	Congenital central hypoventilation syndrome
  400	Cystic echinococcosis
  1795	Peripheral dysostosis
  559	Marinesco-Sjögren syndrome
  97283	Somatostatinoma
  439254	ITM2B amyloidosis
  1945	Rolandic epilepsy
  263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
  2958	X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
  314585	15q overgrowth syndrome
  324581	Benign Samaritan congenital myopathy
  293936	EDICT syndrome
  971	Acrorenal syndrome
  93924	Lobar holoprosencephaly
  90045	Hereditary folate malabsorption
  438213	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
  3019	Ramon syndrome
  324299	Multiple paragangliomas associated with polycythemia
  2390	Lichtenstein syndrome
  555407	NAD(P)HX epimerase deficiency
  98844	Classic Hodgkin lymphoma, mixed cellularity type
  75857	6q terminal deletion syndrome
  500464	Squamous cell carcinoma of the nasal cavity and paranasal sinuses
  79145	Dowling-Degos disease
  352675	X-linked Charcot-Marie-Tooth disease type 6
  254685	Gestational trophoblastic disease
  99944	Autosomal dominant Charcot-Marie-Tooth disease type 2K
  2131	Alternating hemiplegia of childhood
  466806	Autosomal dominant thrombocytopenia with platelet secretion defect
  90159	Panniculitis-induced localized lipodystrophy
  401835	Autosomal recessive spastic paraplegia type 70
  85442	Short stature-pituitary and cerebellar defects-small sella turcica syndrome
  816	Sjögren-Larsson syndrome
  324307	Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome
  22	Succinic semialdehyde dehydrogenase deficiency
  566862	Left sided atrial isomerism
  231426	Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome
  1765	Dyschondrosteosis-nephritis syndrome
  569274	Multiple mitochondrial dysfunctions syndrome type 5
  1703	Mosaic trisomy 14
  168816	Peritoneal cystic mesothelioma
  1326	Camptodactyly syndrome, Guadalajara type 2
  73272	Growth delay due to insulin-like growth factor type 1 deficiency
  79350	3-phosphoserine phosphatase deficiency, infantile/juvenile form
  94068	Spondyloepiphyseal dysplasia congenita
  5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
  247257	Inhalational anthrax
  1328	Camurati-Engelmann disease
  444069	Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
  398058	Squamous cell carcinoma of the penis
  72	Angelman syndrome
  319171	Distal 17p13.1 microdeletion syndrome
  101007	Autosomal recessive spastic paraplegia type 27
  506098	Neuroendocrine carcinoma of pancreas
  3238	Cardiospondylocarpofacial syndrome
  46135	Primary central nervous system lymphoma
  768	Familial long QT syndrome
  213772	Adenocarcinoma of the cervix uteri
  1548	Cryptorchidism-arachnodactyly-intellectual disability syndrome
  538756	Familial multiple discoid fibromas
  402020	Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)
  163717	Benign familial mesial temporal lobe epilepsy
  525	Lichen planopilaris
  88642	Congenital insensitivity to pain-anosmia-neuropathic arthropathy
  811	Shwachman-Diamond syndrome
  2328	Kapur-Toriello syndrome
  275517	Autoimmune lymphoproliferative syndrome with recurrent viral infections
  163699	Alveolar soft tissue sarcoma
  141022	Second branchial cleft anomaly
  2222	Hypertrichosis lanuginosa congenita
  2364	Glycogen storage disease due to lactate dehydrogenase deficiency
  60030	Loeys-Dietz syndrome
  268943	Unilateral polymicrogyria
  370002	Focal palmoplantar keratoderma with joint keratoses
  319276	Clear cell renal carcinoma
  79062	Disorder of amino acid and other organic acid metabolism
  2399	Nasopalpebral lipoma-coloboma syndrome
  217080	Pulmonary fungal infections in patients deemed at risk
  2892	Pilodental dysplasia-refractive errors syndrome
  216820	Osteogenesis imperfecta type 4
  300284	Connective tissue disorder due to lysyl hydroxylase-3 deficiency
  2457	Mandibuloacral dysplasia
  31740	Hypersensitivity pneumonitis
  83452	Complex regional pain syndrome
  3375	Trisomy X
  318	Acute erythroid leukemia
  217377	Microduplication Xp11.22p11.23 syndrome
  101001	Autosomal recessive spastic paraplegia type 21
  206580	Autosomal recessive lower motor neuron disease with childhood onset
  2108	Hallermann-Streiff syndrome
  213731	High-grade neuroendocrine carcinoma of the corpus uteri
  96194	Paternal uniparental disomy of chromosome 20
  141099	Proboscis lateralis
  90396	Acral persistent papular mucinosis
  98725	Ascending aorta anomaly
  90389	Telangiectasia macularis eruptiva perstans
  404463	Multisystemic smooth muscle dysfunction syndrome
  279897	Primary oculocerebral lymphoma
  169142	Recurrent infection due to specific granule deficiency
  2552	Microsporidiosis
  397941	MAN1B1-CDG
  2959	Progeria-short stature-pigmented nevi syndrome
  94080	Non-functioning paraganglioma
  261304	Paternal 20q13.2q13.3 microdeletion syndrome
  312	Autosomal dominant epidermolytic ichthyosis
  137681	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
  1304	Brucellosis
  306644	Complication after organ transplantation
  99059	Congenital supravalvular mitral ring
  35706	Glutaric acidemia type 3
  565899	POMGNT2-related limb-girdle muscular dystrophy R24
  1902	Ehrlichiosis
  397685	Familial hyperprolactinemia
  1897	EEM syndrome
  36412	Hypocomplementemic urticarial vasculitis
  309246	GM2 gangliosidosis, AB variant
  100035	Solitary necrotic nodule of the liver
  458718	Idiopathic spontaneous coronary artery dissection
  217385	17p13.3 microduplication syndrome
  254519	Kagami-Ogata syndrome
  2101	Grubben-de Cock-Borghgraef syndrome
  98943	Coloboma of eye lens
  279943	Hereditary neutrophilia
  294023	Neonatal inflammatory skin and bowel disease
  49042	Dentinogenesis imperfecta
  169464	Primary CD59 deficiency
  99914	Gynandroblastoma
  454745	Kuru
  538931	X-linked lymphoproliferative disease due to SH2D1A deficiency
  279947	Postorgasmic illness syndrome
  846	Alpha-thalassemia
  443101	Hypothalamic adipsic hypernatraemia syndrome
  439854	Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease
  440402	Interstitial lung disease due to ABCA3 deficiency
  3194	Corneodermatoosseous syndrome
  6	3-methylcrotonyl-CoA carboxylase deficiency
  171430	Severe congenital nemaline myopathy
  2999	Ptosis-strabismus-ectopic pupils syndrome
  221074	Marchiafava-Bignami disease
  98978	Axenfeld anomaly
  353334	Congenital retinal arteriovenous communication
  293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy
  486	Autosomal dominant severe congenital neutropenia
  1522	Craniometaphyseal dysplasia
  2833	Stiff skin syndrome
  99772	Cleft velum
  84064	Syndromic diarrhea
  96092	8p inverted duplication/deletion syndrome
  217	Isolated Dandy-Walker malformation
  1461	Criss-cross heart
  95494	Combined pituitary hormone deficiencies, genetic forms
  738	Porphyria
  558	Marfan syndrome
  2045	FLOTCH syndrome
  2299	Aortic arch interruption
  2623	Geleophysic dysplasia
  412217	Dystonia-aphonia syndrome
  1014	Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome
  324588	Familial dyskinesia and facial myokymia
  226313	Congenital hypothyroidism due to maternal intake of antithyroid drugs
  1496	Corpus callosum agenesis-neuronopathy syndrome
  251946	Dysembryoplastic neuroepithelial tumor
  99937	Autosomal dominant Charcot-Marie-Tooth disease type 2C
  263413	Angiosarcoma
  139426	Perioral myoclonia with absences
  168588	Hyperandrogenism due to cortisone reductase deficiency
  91547	Relapsing fever
  468641	Chronic enteropathy associated with SLCO2A1 gene
  295012	Syndactyly type 6
  90636	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
  158057	Acquired hemophagocytic lymphohistiocytosis associated with malignant disease
  2785	Osteopetrosis with renal tubular acidosis
  566243	Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
  2186	Hydrocephalus-blue sclerae-nephropathy syndrome
  1277	Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
  79401	PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement
  228003	Severe combined immunodeficiency due to CORO1A deficiency
  1193	Atkin-Flaitz syndrome
  3243	Sweet syndrome
  2207	Familial primary hyperparathyroidism
  2473	McKusick-Kaufman syndrome
  295030	True congenital shoulder dislocation
  86815	Aplasia of lacrimal and salivary glands
  3092	Fixed subaortic stenosis
  2897	Pityriasis rubra pilaris
  100088	Rare thyroid carcinoma
  101043	Congenital aortic valve dysplasia
  453499	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
  902	Werner syndrome
  2976	Pseudoleprechaunism syndrome, Patterson type
  313906	Congenital pancreatic cyst
  79271	Sanfilippo syndrome type C
  2756	Orofaciodigital syndrome type 10
  95409	Acute adrenal insufficiency
  1198	Colonic atresia
  1223	Balantidiasis
  370959	Congenital muscular dystrophy with cerebellar involvement
  1552	Currarino syndrome
  46059	Lathosterolosis
  99112	Absence of innominate vein
  1883	Ectodermal dysplasia-sensorineural deafness syndrome
  497757	MME-related autosomal dominant Charcot Marie Tooth disease type 2
  158019	Indeterminate cell histiocytosis
  96126	Distal deletion 7p
  3466	WT limb-blood syndrome
  2086	Optic pathway glioma
  480501	Choledochal cyst
  2572	Spastic ataxia-corneal dystrophy syndrome
  2123	Diffuse neonatal hemangiomatosis
  34528	Autosomal dominant primary hypomagnesemia with hypocalciuria
  444092	Autoimmune interstitial lung disease-arthritis syndrome
  99082	Dysphagia lusoria
  2136	Hennekam syndrome
  98155	Sex-chromosome anomaly
  99970	Dedifferentiated liposarcoma
  238459	SLC35A1-CDG
  2269	Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
  2741	Ophthalmomandibulomelic dysplasia
  1901	Dermatosparaxis Ehlers-Danlos syndrome
  178481	Intestinal botulism
  402023	Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)
  93398	Genochondromatosis type 2
  890	Hepatic veno-occlusive disease
  369939	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
  251056	6q25 microdeletion syndrome
  309297	Mucopolysaccharidosis type 4A
  34587	Glycogen storage disease due to LAMP-2 deficiency
  2459	Mansonelliasis
  1677	Familial idiopathic dilatation of the right atrium
  67039	Segmental odontomaxillary dysplasia
  86902	Follicular dendritic cell sarcoma
  1803	Thoracomelic dysplasia
  96102	Distal duplication 10q
  264675	Hereditary pulmonary alveolar proteinosis
  218	Darier disease
  1182	Spastic ataxia with congenital miosis
  1188	Ataxia-deafness-intellectual disability syndrome
  519402	Isolated megalopapilla
  119	Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
  994	Fetal akinesia deformation sequence
  98759	Spinocerebellar ataxia type 17
  505208	3-methylglutaconic aciduria type 8
  3353	Trichodermodysplasia-dental alterations syndrome
  352629	16q24.1 microdeletion syndrome
  261257	Distal 17p13.3 microdeletion syndrome
  2315	Johanson-Blizzard syndrome
  293633	PYCR1-related De Barsy syndrome
  227796	Fundus albipunctatus
  324964	Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis
  502366	Squamous cell carcinoma of the lip
  90064	Acute peripheral arterial occlusion
  33111	Granulomatous slack skin
  508476	Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome
  99942	Autosomal dominant Charcot-Marie-Tooth disease type 2I
  330032	Hemoglobin Lepore-beta-thalassemia syndrome
  2934	Polysyndactyly-cardiac malformation syndrome
  1318	Campomelia, Cumming type
  1126	Aprosencephaly cerebellar dysgenesis
  391376	Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
  542643	Livedoid vasculopathy
  98938	Colobomatous microphthalmia
  3032	NPHP3-related Meckel-like syndrome
  535	Rare cutaneous lupus erythematosus
  289522	Microtriplication 11q24.1
  75567	Primary progressive freezing gait
  101008	Autosomal recessive spastic paraplegia type 28
  140905	Hyperlipidemia due to hepatic triacylglycerol lipase deficiency
  1600	Monosomy 18q
  158673	Localized dystrophic epidermolysis bullosa, acral form
  3355	Trichoodontoonychial dysplasia
  94056	Humero-ulnar synostosis
  281190	Congenital reticular ichthyosiform erythroderma
  371	Glycogen storage disease due to muscle phosphofructokinase deficiency
  1380	Cataract-nephropathy-encephalopathy syndrome
  723	Pneumocystosis
  320411	Autosomal recessive spastic paraplegia type 56
  357175	Short ulna-dysmorphism-hypotonia-intellectual disability syndrome
  319509	Combined oxidative phosphorylation defect type 9
  1665	Sporadic fetal brain disruption sequence
  163668	Spondyloepiphyseal dysplasia, MacDermot type
  1465	Coffin-Siris syndrome
  392	Holt-Oram syndrome
  950	Acrodysostosis
  324575	Hyperinsulinism due to HNF1A deficiency
  90003	Inflammatory pseudotumor of the liver
  353356	Vasoproliferative tumor of the retina
  137617	Nephrogenic systemic fibrosis
  609	Tibial muscular dystrophy
  87503	Mal de Meleda
  95619	Post-traumatic pituitary deficiency
  251290	Parietal foramina with clavicular hypoplasia
  98843	Classic Hodgkin lymphoma, nodular sclerosis type
  454706	Progressive muscular atrophy
  46627	Char syndrome
  254516	Temple syndrome
  370109	Ataxia-telangiectasia variant
  85321	Deafness-intellectual disability syndrome, Martin-Probst type
  401866	Childhood-onset spasticity with hyperglycinemia
  450322	Polyclonal hyperviscosity syndrome
  320396	Autosomal recessive spastic paraplegia type 45
  443073	Charcot-Marie-Tooth disease type 2S
  494526	Infantile-onset generalized dyskinesia with orofacial involvement
  369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
  1159	Progressive pseudorheumatoid arthropathy of childhood
  34217	Naxos disease
  580940	QRICH1-related intellectual disability-chondrodysplasia syndrome
  155884	Coloboma of superior eyelid
  464336	BENTA disease
  466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy
  85274	Syndromic X-linked intellectual disability 7
  180	Choroideremia
  139414	Congenital panfollicular nevus
  353344	Idiopathic macular telangiectasia type 1
  1394	Cerebrofaciothoracic dysplasia
  1777	Temtamy syndrome
  2238	Familial isolated hypoparathyroidism
  137	Congenital disorder of glycosylation
  3088	Revesz syndrome
  90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
  1927	Emery-Nelson syndrome
  86914	Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome
  439881	Plastic bronchitis
  293812	Fixed drug eruption
  98831	Acute myeloid leukemia with 11q23 abnormalities
  453533	Polyendocrine-polyneuropathy syndrome
  2092	Focal dermal hypoplasia
  169189	Autosomal dominant centronuclear myopathy
  699	Pearson syndrome
  2588	Myhre syndrome
  1891	Intellectual disability-spasticity-ectrodactyly syndrome
  140944	CLOVES syndrome
  85450	Hereditary amyloidosis with primary renal involvement
  163931	Acrodermatitis continua of Hallopeau
  221061	Familial cerebral cavernous malformation
  29073	Multiple myeloma
  1077	Dental ankylosis
  488632	TBCK-related intellectual disability syndrome
  199348	Thiamine-responsive encephalopathy
  457083	Isolated splenogonadal fusion
  86820	Familial avascular necrosis of femoral head
  858	Congenital toxoplasmosis
  268322	Hereditary thrombocytopenia with normal platelets
  231720	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
  99827	Crimean-Congo hemorrhagic fever
  247198	Progressive cerebello-cerebral atrophy
  2021	Fibrochondrogenesis
  79146	Familial progressive hyperpigmentation
  512260	Congenital cerebellar ataxia due to RNU12 mutation
  178333	Åland Islands eye disease
  98957	Gelatinous drop-like corneal dystrophy
  541454	Anomalous aortic origin of the right coronary artery
  3203	Overhydrated hereditary stomatocytosis
  217371	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  227982	Autoimmune polyendocrinopathy type 3
  268817	Cephalocele
  98956	Epithelial basement membrane dystrophy
  3463	Wolfram syndrome
  251282	Autosomal dominant spastic ataxia type 1
  1884	Ectopia lentis-chorioretinal dystrophy-myopia syndrome
  83450	Regional odontodysplasia
  28	Vitamin B12-responsive methylmalonic acidemia
  1627	Deletion 5q35
  646	Niemann-Pick disease type C
  863	Trichinellosis
  180188	Isolated congenital breast hypoplasia/aplasia
  99880	Hyperparathyroidism-jaw tumor syndrome
  97339	Dural sinus malformation
  363981	Charcot-Marie-Tooth disease type 4B3
  99907	House allergic alveolitis
  172	Progressive familial intrahepatic cholestasis
  447784	Mitochondrial pyruvate carrier deficiency
  102012	Pure hereditary spastic paraplegia
  85323	X-linked intellectual disability, Seemanova type
  1824	Lowry-Wood syndrome
  48471	Lissencephaly
  320375	Autosomal recessive spastic paraplegia type 55
  444002	11q22.2q22.3 microdeletion syndrome
  2902	Idiopathic chronic eosinophilic pneumonia
  320401	Autosomal recessive spastic paraplegia type 44
  1531	Craniosynostosis
  98974	Fuchs endothelial corneal dystrophy
  137754	Neurological conditions associated with aminoacylase 1 deficiency
  69082	Odonto-tricho-ungual-digito-palmar syndrome
  443087	46,XY difference of sex development due to testicular 17,20-desmolase deficiency
  252128	Malignant peripheral nerve sheath tumor with perineurial differentiation
  98868	Southeast Asian ovalocytosis
  2253	Foveal hypoplasia-presenile cataract syndrome
  178342	Inflammatory myofibroblastic tumor
  86841	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
  104076	Leiomyosarcoma of small intestine
  397922	Ferro-cerebro-cutaneous syndrome
  99089	Abnormal number of coronary ostia
  436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
  268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
  64755	Becker nevus syndrome
  2372	Laryngocele
  443079	Central serous chorioretinopathy
  99861	Precursor T-cell acute lymphoblastic leukemia
  98761	Spinocerebellar ataxia type 10
  1412	Tarsal-carpal coalition syndrome
  2801	Juvenile Paget disease
  519388	Autosomal recessive anterior segment dysgenesis
  141199	Cerebrofacial arteriovenous metameric syndrome type 3
  85443	AL amyloidosis
  466943	WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
  521426	PLAA-associated neurodevelopmental disorder
  2719	Oculocerebral hypopigmentation syndrome, Cross type
  238769	1q44 microdeletion syndrome
  478029	Combined oxidative phosphorylation defect type 29
  438075	Ketoacidosis due to monocarboxylate transporter-1 deficiency
  73260	Paracoccidioidomycosis
  1117	Aplasia cutis-myopia syndrome
  314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
  2929	Juvenile polyposis syndrome
  507	Leishmaniasis
  618	Familial melanoma
  513436	Autosomal recessive spastic paraplegia type 78
  166084	Von Willebrand disease type 2A
  566943	Mueller-Weiss syndrome
  97352	Pellagra
  909	Cerebrotendinous xanthomatosis
  1724	Mosaic trisomy 20
  1071	Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
  542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome
  370348	Peripheral primitive neuroectodermal tumor
  64720	Leiomyosarcoma
  94091	Mills syndrome
  180267	Giant adenofibroma of the breast
  275523	Dianzani autoimmune lymphoproliferative disease
  319569	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
  263458	Hyperinsulinism due to INSR deficiency
  363659	20q11.2 microduplication syndrome
  2278	Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
  289483	Intellectual disability-alacrima-achalasia syndrome
  3230	Deafness-oligodontia syndrome
  101206	Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome
  293958	Hypertelorism-preauricular sinus-punctual pits-deafness syndrome
  247724	Idiopathic eosinophilic myositis
  464366	NEK9-related lethal skeletal dysplasia
  442	Congenital hypothyroidism
  319218	Ebola hemorrhagic fever
  268823	Occipital encephalocele
  801	Scleroderma
  2027	Gingival fibromatosis-progressive deafness syndrome
  390	Histoplasmosis
  98765	Spinocerebellar ataxia type 4
  167	Chédiak-Higashi syndrome
  1919	Phenobarbital embryopathy
  137583	Vulvar intraepithelial neoplasia
  654	Nephroblastoma
  192	Coffin-Lowry syndrome
  482077	HTRA1-related autosomal dominant cerebral small vessel disease
  182098	Pneumoconiosis
  93317	Spondylometaphyseal dysplasia, Sedaghatian type
  76	Strongyloidiasis
  478049	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
  147	Carbamoyl-phosphate synthetase 1 deficiency
  228169	Autosomal dominant striatal neurodegeneration
  380	Greig cephalopolysyndactyly syndrome
  295051	Lower limb hypertrophy
  399	Huntington disease
  474	Jeune syndrome
  2755	Orofaciodigital syndrome type 8
  33364	Trichothiodystrophy
  3240	Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome
  210115	Sterile multifocal osteomyelitis with periostitis and pustulosis
  99950	Charcot-Marie-Tooth disease type 4D
  86821	Lissencephaly type 3-familial fetal akinesia sequence syndrome
  570491	QRSL1-related combined oxidative phosphorylation defect
  449	Hepatoblastoma
  95159	Hepatoerythropoietic porphyria
  438114	RARS-related autosomal recessive hypomyelinating leukodystrophy
  806	Scott syndrome
  98902	Amish nemaline myopathy
  65	Leber congenital amaurosis
  165958	Cavitary myiasis
  424039	Squamous cell carcinoma of pancreas
  254411	Annular atrophic lichen planus
  251931	Cerebellar liponeurocytoma
  269221	Isolated bilateral hemispheric cerebellar hypoplasia
  760	Purine nucleoside phosphorylase deficiency
  2722	Odonto-onycho dysplasia-alopecia syndrome
  580572	Intraductal tubulopapillary neoplasm of pancreas
  98971	Posterior amorphous corneal dystrophy
  95715	Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies
  685	Hereditary spastic paraplegia
  137926	Primary laryngeal lymphangioma
  352403	Spectrin-associated autosomal recessive cerebellar ataxia
  2028	Juvenile hyaline fibromatosis
  85162	Facial onset sensory and motor neuronopathy
  55596	HNRNPDL-related limb-girdle muscular dystrophy D3
  920	Ablepharon macrostomia syndrome
  402082	Progressive myoclonic epilepsy type 5
  249	Fibrous dysplasia of bone
  2598	Mitochondrial myopathy and sideroblastic anemia
  281097	Autosomal recessive congenital ichthyosis
  615	Familial atrial myxoma
  263463	CHST3-related skeletal dysplasia
  1871	Progressive cone dystrophy
  83617	Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
  330041	Hemoglobin M disease
  254886	Autosomal recessive progressive external ophthalmoplegia
  2867	Short stature, Brussels type
  2040	Congenital respiratory-biliary fistula
  31828	Digitalis poisoning
  477650	Fibroblastic rheumatism
  211017	Spinocerebellar ataxia type 30
  2462	Shprintzen-Goldberg syndrome
  96068	Mosaic trisomy 22
  364028	X-linked intellectual disability due to GRIA3 mutations
  88643	Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome
  158029	Sea-blue histiocytosis
  140976	RHYNS syndrome
  279922	Infectious anterior uveitis
  85273	X-linked intellectual disability, Abidi type
  31	Oxoglutaric aciduria
  3210	Summitt syndrome
  35069	Infantile neuroaxonal dystrophy
  563991	Osteochondrosis of the tarsal bone
  488642	TELO2-related intellectual disability-neurodevelopmental disorder
  1381	Cataract-intellectual disability-anal atresia-urinary defects syndrome
  65748	Multiple self-healing squamous epithelioma
  1757	Fibular dimelia-diplopodia syndrome
  166090	Von Willebrand disease type 2M
  443180	Spontaneous intracranial hypotension
  23	Argininosuccinic aciduria
  293208	Celiac artery compression syndrome
  1878	TRIM32-related limb-girdle muscular dystrophy R8
  402823	Hepatitis delta
  314575	Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome
  251295	Pigmented paravenous retinochoroidal atrophy
  867	Familial multiple trichoepithelioma
  1931	Frontal encephalocele
  2589	Myoclonus-cerebellar ataxia-deafness syndrome
  99757	Embryonal rhabdomyosarcoma
  306547	Porencephaly-microcephaly-bilateral congenital cataract syndrome
  1303	Bronchiolitis obliterans with obstructive pulmonary disease
  141051	Facial dermoid cyst
  93403	Syndactyly type 2
  1201	Small bowel atresia
  284324	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
  456333	Hereditary neuroendocrine tumor of small intestine
  808	Seckel syndrome
  2762	Progressive osseous heteroplasia
  79093	Foix-Alajouanine syndrome
  482601	Adenylosuccinate synthetase-like 1-related distal myopathy
  363447	Autosomal dominant childhood-onset proximal spinal muscular atrophy
  73256	Central neurocytoma
  363549	Acute encephalopathy with biphasic seizures and late reduced diffusion
  496693	Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
  306527	Isolated hereditary congenital facial paralysis
  401979	Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type
  1852	X-linked retinal dysplasia
  404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
  268865	Neurenteric cyst
  109	Bannayan-Riley-Ruvalcaba syndrome
  2420	Primary pulmonary lymphoma
  1292	Brachymorphism-onychodysplasia-dysphalangism syndrome
  2230	Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome
  91396	Isolated cryptophthalmia
  500478	Squamous cell carcinoma of the oropharynx
  294973	Humeral agenesis/hypoplasia
  1942	Myoclonic-astatic epilepsy
  2183	Hydrocephalus-obesity-hypogonadism syndrome
  3172	Eyebrow duplication-syndactyly syndrome
  168632	Generalized basaloid follicular hamartoma syndrome
  85324	X-linked intellectual disability, Shrimpton type
  562509	Heme oxygenase-1 deficiency
  398109	Neonatal autoimmune hemolytic anemia
  96150	Distal deletion 14q
  487809	Pediatric collagenous gastritis
  251046	6p22 microdeletion syndrome
  300373	X-linked acrogigantism
  294026	Syndactyly-nystagmus syndrome due to 2q31.1 microduplication
  2427	Macrocephaly-short stature-paraplegia syndrome
  231111	Drug-induced lupus erythematosus
  199310	Tetragametic chimerism
  231226	Dominant beta-thalassemia
  459056	Autosomal recessive spastic paraplegia type 75
  589856	Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
  55881	Adamantinoma
  142	Anaplastic thyroid carcinoma
  251940	Desmoplastic infantile astrocytoma/ganglioglioma
  2070	Eosinophilic gastroenteritis
  90035	Paroxysmal cold hemoglobinuria
  2898	X-linked intellectual disability-plagiocephaly syndrome
  363710	Spinocerebellar ataxia type 37
  104075	Adenocarcinoma of the small intestine
  313	Lamellar ichthyosis
  1145	Infantile-onset X-linked spinal muscular atrophy
  206559	POMT2-related limb-girdle muscular dystrophy R14
  1636	Distal monosomy 7q36
  137814	Macular amyloidosis
  2718	Oculotrichodysplasia
  3403	Uhl anomaly
  178	Chordoma
  99718	Leber plus disease
  439822	PDE4D haploinsufficiency syndrome
  247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  91494	Macular coloboma-cleft palate-hallux valgus syndrome
  79301	Congenital bile acid synthesis defect type 1
  393	46,XX testicular difference of sex development
  184	Cherubism
  98672	Autosomal dominant optic atrophy
  220393	Diffuse cutaneous systemic sclerosis
  79328	ALG9-CDG
  3231	Deafness-onychodystrophy syndrome
  451612	Familial congenital nasolacrimal duct obstruction
  444072	Cerebellar-facial-dental syndrome
  254851	Mitochondrial DNA-related dystonia
  290	Congenital rubella syndrome
  93558	Light chain deposition disease
  3199	Stimmler syndrome
  261524	Paternal uniparental disomy of chromosome X
  586130	Sporadic fatal insomnia
  168577	Hereditary cryohydrocytosis with reduced stomatin
  674	Accessory pancreas
  52427	Retinitis punctata albescens
  477831	Kosaki overgrowth syndrome
  166024	Multiple epiphyseal dysplasia, Al-Gazali type
  3406	Ulerythema ophryogenesis
  2783	Autosomal dominant osteopetrosis type 1
  71493	Familial thrombocytosis
  247794	Juvenile cataract-microcornea-renal glucosuria syndrome
  251601	Fibrillary astrocytoma
  85186	Endosteal sclerosis-cerebellar hypoplasia syndrome
  468699	SLC39A8-CDG
  270	Oculopharyngeal muscular dystrophy
  79106	Eiken syndrome
  567983	Parenteral nutrition-associated cholestasis
  2508	Corpus callosum agenesis-abnormal genitalia syndrome
  3411	Double uterus-hemivagina-renal agenesis syndrome
  261483	Xq27.3q28 duplication syndrome
  2305	Isotretinoin syndrome
  363972	Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
  98920	Spinal muscular atrophy with respiratory distress type 1
  444138	Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome
  97232	Fingerprint body myopathy
  26349	Protein S acquired deficiency
  217390	Combined immunodeficiency due to DOCK8 deficiency
  2670	Pierson syndrome
  2796	Pachydermoperiostosis
  2788	Osteoporosis-pseudoglioma syndrome
  626	Large congenital melanocytic nevus
  79276	Acute intermittent porphyria
  2500	Acrogeria
  2268	ICF syndrome
  169082	Combined immunodeficiency due to CD3gamma deficiency
  2753	Orofaciodigital syndrome type 4
  2069	Gastrocutaneous syndrome
  70588	Meconium aspiration syndrome
  276630	Symptomatic form of Coffin-Lowry syndrome in female carriers
  444463	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
  60015	Enlarged parietal foramina
  592	Macrophagic myofasciitis
  99748	Pontiac fever
  79501	Punctate palmoplantar keratoderma type 1
  239	Dyggve-Melchior-Clausen disease
  449432	IgG4-related submandibular gland disease
  3306	Inverted duplicated chromosome 15 syndrome
  2707	Oculocerebrofacial syndrome, Kaufman type
  958	Acro-renal-mandibular syndrome
  247676	Adult hypophosphatasia
  340	Hemorrhagic fever-renal syndrome
  610	Bethlem myopathy
  101150	Autosomal recessive dopa-responsive dystonia
  98919	Miller Fisher syndrome
  220295	Xeroderma pigmentosum-Cockayne syndrome complex
  100070	Progressive non-fluent aphasia
  69744	Circumscribed palmoplantar hypokeratosis
  93394	Brachydactyly type A4
  652	Multiple endocrine neoplasia type 1
  98763	Spinocerebellar ataxia type 14
  54057	Thrombotic thrombocytopenic purpura
  221145	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
  95431	Twin to twin transfusion syndrome
  99918	Streptococcal toxic-shock syndrome
  96195	Paternal uniparental disomy of chromosome 21
  171629	Autosomal recessive spastic paraplegia type 35
  2177	Hydranencephaly
  166418	Eating reflex epilepsy
  141096	Supernumerary nostril
  401874	Multiple mitochondrial dysfunctions syndrome type 2
  101075	X-linked Charcot-Marie-Tooth disease type 1
  449566	Eosinophilic angiocentric fibrosis
  2879	Phocomelia, Schinzel type
  314689	Combined immunodeficiency due to STK4 deficiency
  73224	Kidney tubulopathy-dilated cardiomyopathy syndrome
  230839	Classical-like Ehlers-Danlos syndrome type 1
  1069	Aniridia-absent patella syndrome
  91138	Cryoglobulinemic vasculitis
  95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome
  2126	Solitary fibrous tumor
  1440	Ring chromosome 14 syndrome
  64542	Acrofacial dysostosis, Kennedy-Teebi type
  79212	Mucolipidosis
  477	KID syndrome
  157823	Klüver-Bucy syndrome
  98890	Early-onset X-linked optic atrophy
  101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
  530838	KRT1-related diffuse nonepidermolytic keratoderma
  141219	Nasal dorsum fistula
  589547	GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
  704	Pemphigus vulgaris
  251912	Pineocytoma
  707	Plague
  141103	Nasal dermoid cyst
  2158	Histidinuria-renal tubular defect syndrome
  319332	Autosomal recessive myogenic arthrogryposis multiplex congenita
  98760	Spinocerebellar ataxia type 8
  254449	Atrophic lichen planus
  217260	Progressive multifocal leukoencephalopathy
  1880	Ebstein malformation of the tricuspid valve
  614	Thomsen and Becker disease
  180079	Pseudounicornuate uterus
  2261	Hypospadias-intellectual disability, Goldblatt type syndrome
  163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type
  57196	Medial condensing osteitis of the clavicle
  2585	Ataxia-pancytopenia syndrome
  140927	Benign familial neonatal-infantile seizures
  1832	Lethal osteosclerotic bone dysplasia
  370046	Didymosis aplasticosebacea
  178522	Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma
  58017	Classic hairy cell leukemia
  251902	Atypical papilloma of choroid plexus
  98365	Hereditary stomatocytosis
  85136	Cystic leukoencephalopathy without megalencephaly
  486811	Prenatal-onset spinal muscular atrophy with congenital bone fractures
  71519	Psychogenic movement disorders
  3392	Tularemia
  163921	Posttransplant acute limbic encephalitis
  309263	Metachromatic leukodystrophy, juvenile form
  137783	Lethal congenital contracture syndrome type 3
  1295	Brachytelephalangy-dysmorphism-Kallmann syndrome
  103918	Tropical pancreatitis
  124	Diamond-Blackfan anemia
  99177	Isolated distichiasis
  3342	Arterial tortuosity syndrome
  209943	IRVAN syndrome
  1425	Desbuquois syndrome
  94122	Cerebellar ataxia, Cayman type
  1527	Craniosynostosis, Philadelphia type
  79239	Classic galactosemia
  1074	Ankyloblepharon filiforme adnatum-imperforate anus syndrome
  447980	19p13.3 microduplication syndrome
  251028	SATB2-associated syndrome due to a chromosomal rearrangement
  2754	Orofaciodigital syndrome type 6
  832	Succinyl-CoA:3-oxoacid CoA transferase deficiency
  98979	Chandler syndrome
  70578	Adult acute respiratory distress syndrome
  293955	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  2863	Short stature-wormian bones-dextrocardia syndrome
  103909	Trehalase deficiency
  90073	Hepatitis B reinfection following liver transplantation
  99976	Adenocarcinoma of the esophagus
  280200	Microform holoprosencephaly
  79445	Pseudopseudohypoparathyroidism
  352731	Oculocutaneous albinism type 1
  488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome
  139536	Distal hereditary motor neuropathy type 5
  391651	Glomus tumor
  33355	Reticular dysgenesis
  481152	PYCR2-related microcephaly-progressive leukoencephalopathy
  2246	Cerebellar hypoplasia-tapetoretinal degeneration syndrome
  48818	Aceruloplasminemia
  79433	Oculocutaneous albinism type 3
  48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome
  308473	Erythrocyte galactose epimerase deficiency
  263501	COG4-CDG
  3086	Autosomal dominant vitreoretinochoroidopathy
  97330	Thoracic outlet syndrome
  1909	Indomethacin embryofetopathy
  3206	Stüve-Wiedemann syndrome
  95486	Premature closure of the arterial duct
  2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome
  33108	Lethal multiple pterygium syndrome
  376	Gordon syndrome
  26791	Multiple acyl-CoA dehydrogenase deficiency
  251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
  500055	Hao-Fountain syndrome due to 16p13.2 microdeletion
  363417	Temtamy preaxial brachydactyly syndrome
  85338	X-linked intellectual disability-ataxia-apraxia syndrome
  100995	Autosomal recessive spastic paraplegia type 14
  401948	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
  96264	49,XXXXY syndrome
  1489	Whooping cough
  45448	Miyoshi myopathy
  29207	Reactive arthritis
  436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
  2855	Perrault syndrome
  300	Bifunctional enzyme deficiency
  370334	Extraskeletal Ewing sarcoma
  238583	Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
  252202	Constitutional mismatch repair deficiency syndrome
  276621	Sporadic pheochromocytoma/secreting paraganglioma
  79197	Disorder of branched-chain amino acid metabolism
  369970	Microcornea-myopic chorioretinal atrophy-telecanthus syndrome
  319239	Brazilian hemorrhagic fever
  293948	1p21.3 microdeletion syndrome
  168572	Native American myopathy
  199318	15q13.3 microdeletion syndrome
  50918	Kikuchi-Fujimoto disease
  93282	Spondyloepimetaphyseal dysplasia, PAPSS2 type
  563951	Isolated congenital aglossia
  206470	Cystadenoma of childhood
  51208	Formiminoglutamic aciduria
  494	Keratoderma hereditarium mutilans
  508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
  65743	Autosomal dominant multiple pterygium syndrome
  2815	Spastic paraparesis-deafness syndrome
  209919	Idiopathic copper-associated cirrhosis
  1974	Autosomal recessive faciodigitogenital syndrome
  141291	Cleft lip and alveolus
  2551	Microspherophakia-metaphyseal dysplasia syndrome
  206997	Parasitic myositis
  254898	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
  431341	Patent urachus
  289307	Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
  1655	Müllerian derivatives-lymphangiectasia-polydactyly syndrome
  168451	Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome
  398156	Oculoauriculofrontonasal syndrome
  2828	Young-onset Parkinson disease
  35062	Severe disseminated cytomegalovirus infection in immunocompetent patients
  502430	Metopic ridging-ptosis-facial dysmorphism syndrome
  90059	Sudden sensorineural hearing loss
  1221	Cheilitis glandularis
  99797	Anodontia
  100976	Bathing suit ichthyosis
  566067	CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome
  98872	Primary acquired pure red cell aplasia
  572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
  263	Limb-girdle muscular dystrophy
  157850	Pantothenate kinase-associated neurodegeneration
  1970	Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
  1062	Hereditary neurocutaneous malformation
  64545	Benign idiopathic neonatal seizures
  1445	Ring chromosome 21 syndrome
  289290	Hypermethioninemia encephalopathy due to adenosine kinase deficiency
  1314	Symmetrical thalamic calcifications
  140936	Lelis syndrome
  163979	X-linked intellectual disability-craniofacioskeletal syndrome
  276280	Hemihyperplasia-multiple lipomatosis syndrome
  2285	Primary basilar invagination
  859	Transcobalamin deficiency
  2769	Familial osteodysplasia, Anderson type
  168549	Axial spondylometaphyseal dysplasia
  99983	Cutaneous myiasis
  2840	Pelvic dysplasia-arthrogryposis of lower limbs syndrome
  251359	Sickle cell-beta-thalassemia disease syndrome
  2834	Wrinkly skin syndrome
  363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
  93308	Multiple epiphyseal dysplasia type 1
  269197	Glioependymal/ependymal cyst
  2203	Hyperlysinemia
  95716	Familial thyroid dyshormonogenesis
  3078	Severe X-linked intellectual disability, Gustavson type
  2899	Brachyolmia-amelogenesis imperfecta syndrome
  255229	Navajo neurohepatopathy
  96321	Polyploidy
  101082	Charcot-Marie-Tooth disease type 1B
  83313	Boutonneuse fever
  144	Lynch syndrome
  36258	Buerger disease
  210136	Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome
  52022	Potocki-Shaffer syndrome
  231679	Isolated growth hormone deficiency type II
  1183	Opsoclonus-myoclonus syndrome
  1459	Celiac disease-epilepsy-cerebral calcification syndrome
  31202	Melioidosis
  2987	Antecubital pterygium syndrome
  79489	Macrocystic lymphatic malformation
  99849	Glycogen storage disease due to muscle beta-enolase deficiency
  851	Paris-Trousseau thrombocytopenia
  439	Isolated right ventricular hypoplasia
  306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
  477857	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  169079	Cernunnos-XLF deficiency
  99789	Dentin dysplasia type I
  319671	Alazami syndrome
  401768	Proximal myopathy with extrapyramidal signs
  86908	Idiopathic hemiconvulsion-hemiplegia syndrome
  313855	FGFR2-related bent bone dysplasia
  2614	Nail-patella syndrome
  320380	Autosomal recessive spastic paraplegia type 54
  101003	Autosomal recessive spastic paraplegia type 23
  306682	Manganese poisoning
  59135	Laing early-onset distal myopathy
  168	Loose anagen syndrome
  2896	Pitt-Hopkins syndrome
  79303	Congenital bile acid synthesis defect type 2
  420789	Autoimmune encephalopathy with parasomnia and obstructive sleep apnea
  284282	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
  425	Apolipoprotein A-I deficiency
  536532	Classical-like Ehlers-Danlos syndrome type 2
  99955	Charcot-Marie-Tooth disease type 4B1
  139557	X-linked distal spinal muscular atrophy type 3
  85128	Bothnia retinal dystrophy
  596	X-linked centronuclear myopathy
  79402	Intermediate generalized junctional epidermolysis bullosa
  353298	Roifman syndrome
  398127	Neonatal scleroderma
  1918	Fetal minoxidil syndrome
  99912	Malignant dysgerminomatous germ cell tumor of the ovary
  171929	Trisomy 10p
  457088	Predisposition to invasive fungal disease due to CARD9 deficiency
  2282	Dysmorphism-short stature-deafness-difference of sex development syndrome
  251909	Pineoblastoma
  86906	Hypothalamic hamartomas with gelastic seizures
  2512	Autosomal recessive primary microcephaly
  647	Nijmegen breakage syndrome
  99100	Juxtaposition of the atrial appendages
  285	Hypermobile Ehlers-Danlos syndrome
  79262	Adult neuronal ceroid lipofuscinosis
  329466	Autosomal dominant focal dystonia, DYT25 type
  79479	Pemphigus vegetans
  1463	Triatrial heart
  1267	Botulism
  247522	Primary ciliary dyskinesia-retinitis pigmentosa syndrome
  1064	Aniridia-renal agenesis-psychomotor retardation syndrome
  52368	Mohr-Tranebjaerg syndrome
  589522	Spinocerebellar ataxia type 46
  602	GNE myopathy
  543	Burkitt lymphoma
  1598	Monosomy 18p
  236	Trisomy 9p
  497906	Childhood-onset basal ganglia degeneration syndrome
  79345	Brachytelephalangic chondrodysplasia punctata
  519400	Peripapillary staphyloma
  464318	Verrucous hemangioma
  91136	Acquired monoclonal Ig light chain-associated Fanconi syndrome
  73263	Zygomycosis
  397758	Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
  329235	X-linked central congenital hypothyroidism with late-onset testicular enlargement
  99049	Pulmonary artery coming from patent ductus arteriosus
  391677	Short stature-optic atrophy-Pelger-Huët anomaly syndrome
  90794	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
  364055	Severe early-childhood-onset retinal dystrophy
  2312	Transient familial neonatal hyperbilirubinemia
  1937	Eng-Strom syndrome
  141121	Congenital subglottic stenosis
  443995	Mandibulofacial dysostosis with alopecia
  1229	Congenital intrauterine infection-like syndrome
  3363	Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
  330021	Mercury poisoning
  2248	Hypoplastic left heart syndrome
  98909	Desminopathy
  1621	3q13 microdeletion syndrome
  209956	Idiopathic uveal effusion syndrome
  137839	Lemierre syndrome
  34516	DNAJB6-related limb-girdle muscular dystrophy D1
  505227	Combined immunodeficiency due to GINS1 deficiency
  528084	Non-specific syndromic intellectual disability
  163649	Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome
  139480	Autosomal recessive spastic paraplegia type 39
  397735	Autosomal dominant Charcot-Marie-Tooth disease type 2U
  79094	Grange syndrome
  88919	Autosomal recessive Alport syndrome
  178517	Localized pagetoid reticulosis
  753	46,XY difference of sex development due to 5-alpha-reductase 2 deficiency
  478042	Combined oxidative phosphorylation defect type 30
  3176	Spina bifida-hypospadias syndrome
  98562	Cryptophthalmia
  2865	Short stature-webbed neck-heart disease syndrome
  228387	Spondylo-megaepiphyseal-metaphyseal dysplasia
  3327	Thyrocerebrorenal syndrome
  499182	Pilomatrix carcinoma
  50815	Branchiogenic deafness syndrome
  508523	Hyperphenylalaninemia due to DNAJC12 deficiency
  2319	Juberg-Hayward syndrome
  2369	Limb body wall complex
  231742	Epibulbar lipodermoid-preauricular appendage-polythelia syndrome
  209970	Episodic ataxia type 7
  217335	RIN2 syndrome
  137672	Pellucid marginal degeneration
  314399	Autosomal dominant aplasia and myelodysplasia
  104	Leber hereditary optic neuropathy
  283	Demodicidosis
  3103	Roberts syndrome
  100019	Refractory anemia with excess blasts type 1
  86839	Refractory anemia with excess blasts
  251076	8p23.1 duplication syndrome
  85174	Pseudodiastrophic dysplasia
  263435	Congenital smooth muscle hamartoma
  3309	Tetrasomy 5p
  17	Fatal infantile lactic acidosis with methylmalonic aciduria
  254854	Pure mitochondrial myopathy
  282166	Inherited Creutzfeldt-Jakob disease
  423894	Microcephaly-complex motor and sensory axonal neuropathy syndrome
  139441	Hypomyelination with atrophy of basal ganglia and cerebellum
  93552	Pediatric systemic lupus erythematosus
  77293	Chronic visceral acid sphingomyelinase deficiency
  85164	Camptodactyly-tall stature-scoliosis-hearing loss syndrome
  1319	Camptobrachydactyly
  97289	Thymic neuroendocrine tumor
  2088	Fanconi-Bickel syndrome
  418959	Squamous cell carcinoma of the stomach
  329	Congenital factor XI deficiency
  99105	Atrial septal defect, sinus venosus type
  284180	Xp22.13p22.2 duplication syndrome
  294979	Congenital absence of both forearm and hand
  2921	Preaxial polydactyly-colobomata-intellectual disability syndrome
  166409	Photosensitive epilepsy
  150	Nasopharyngeal carcinoma
  457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
  563954	Isolated congenital hypoglossia
  95491	Congenital coronary artery aneurysm
  228240	Elastoderma
  2579	Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
  2220	Hypertrichosis cubiti
  158668	Ectodermal dysplasia-skin fragility syndrome
  1705	Distal duplication 14q
  254395	Actinic lichen planus
  1078	Thumb stiffness-brachydactyly-intellectual disability syndrome
  589515	PUM1-associated developmental disability-ataxia-seizure syndrome
  99054	Valvular pulmonary stenosis
  261318	Trisomy 20p
  2298	Insulin-resistance syndrome type B
  1123	Caudal appendage-deafness syndrome
  905	Wilson disease
  2881	Cutaneous photosensitivity-lethal colitis syndrome
  85195	Familial expansile osteolysis
  1617	2q24 microdeletion syndrome
  810	Shigellosis
  98869	Congenital dyserythropoietic anemia type I
  90119	Hereditary motor and sensory neuropathy with acrodystrophy
  332	Congenital intrinsic factor deficiency
  2733	Omodysplasia
  1686	Cardiac diverticulum
  3134	SCARF syndrome
  83628	LUMBAR syndrome
  85179	Infantile osteopetrosis with neuroaxonal dysplasia
  1423	Lethal recessive chondrodysplasia
  839	Congenital nephrotic syndrome, Finnish type
  401849	Autosomal spastic paraplegia type 72
  241	Dyschromatosis universalis hereditaria
  96107	Distal duplication 20q
  363989	Familial benign flecked retina
  1323	Camptodactyly-joint contractures-facial skeletal defects syndrome
  320365	Autosomal dominant spastic paraplegia type 36
  100012	Lissencephaly with cerebellar hypoplasia type B
  98820	Familial focal epilepsy with variable foci
  3320	Thrombocytopenia-absent radius syndrome
  384	Huriez syndrome
  2802	X-linked sideroblastic anemia and spinocerebellar ataxia
  1546	Cryptococcosis
  86871	T-cell prolymphocytic leukemia
  813	Silver-Russell syndrome
  1368	Cataract-ataxia-deafness syndrome
  91492	Early-onset non-syndromic cataract
  97338	Melanoma of soft tissue
  369920	Pontocerebellar hypoplasia type 9
  1512	Crane-Heise syndrome
  521414	Autosomal dominant Charcot-Marie-Tooth disease type 2DD
  231568	Autosomal dominant generalized dystrophic epidermolysis bullosa
  314950	Primary hypereosinophilic syndrome
  289356	Primary non-gestational choriocarcinoma of ovary
  77299	Microphthalmia-brain atrophy syndrome
  324294	T-cell immunodeficiency with epidermodysplasia verruciformis
  83314	Epidemic typhus
  2199	Epidermolytic palmoplantar keratoderma
  2185	Congenital hydrocephalus
  71528	Obesity due to prohormone convertase I deficiency
  251	Multiple epiphyseal dysplasia
  397750	Periodic paralysis with later-onset distal motor neuropathy
  3326	Thymic-renal-anal-lung dysplasia
  139474	17q11.2 microduplication syndrome
  818	Smith-Lemli-Opitz syndrome
  247585	Citrullinemia type II
  93383	Brachydactyly type B
  98768	Spinocerebellar ataxia type 13
  77296	Morgagni-Stewart-Morel syndrome
  2374	Congenital laryngeal web
  280633	Multiple congenital anomalies-hypotonia-seizures syndrome
  75327	North Carolina macular dystrophy
  1333	Familial pancreatic carcinoma
  755	Leydig cell hypoplasia
  101110	Spinocerebellar ataxia type 20
  1657	Dermatoosteolysis, Kirghizian type
  261279	17q23.1q23.2 microdeletion syndrome
  88629	Tritanopia
  454710	Anti-p200 pemphigoid
  2032	Idiopathic pulmonary fibrosis
  166286	Porokeratotic eccrine ostial and dermal duct nevus
  166302	Benign partial epilepsy with secondarily generalized seizures in infancy
  90397	Self-healing papular mucinosis
  431329	Autosomal recessive spastic paraplegia type 57
  166087	Von Willebrand disease type 2B
  329332	Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
  512103	Autosomal recessive epidermolytic ichthyosis
  182127	Extragonadal germinoma
  79315	D-2-hydroxyglutaric aciduria
  52	Alagille syndrome
  215	Congenital stationary night blindness
  99990	Brill-Zinsser disease
  86816	Congenital analbuminemia
  1778	Facial dysmorphism-shawl scrotum-joint laxity syndrome
  2308	Jacobsen syndrome
  99832	Resistance to thyrotropin-releasing hormone syndrome
  542	Primary cutaneous lymphoma
  740	Hutchinson-Gilford progeria syndrome
  95717	Idiopathic congenital hypothyroidism
  416	Primary hyperoxaluria
  93672	Juvenile dermatomyositis
  199323	Endophthalmitis
  329329	Autosomal recessive frontotemporal pachygyria
  31825	Methanol poisoning
  1596	Distal deletion 15q
  440368	Necrotizing soft tissue infection
  2639	Fibular aplasia-complex brachydactyly syndrome
  494433	MIRAGE syndrome
  2522	Microcephaly-cervical spine fusion anomalies syndrome
  443167	NUT midline carcinoma
  3250	Proximal symphalangism
  2135	Hennekam-Beemer syndrome
  68380	Mitochondrial disease
  457205	Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
  444316	Idiopathic phalangeal acro-osteolysis
  261272	17q12 microduplication syndrome
  3427	Double outlet left ventricle
  217346	19q13.11 microdeletion syndrome
  1851	Multicystic dysplastic kidney
  3329	Tibial aplasia-ectrodactyly syndrome
  820	Sneddon syndrome
  45358	Congenital fibrosis of extraocular muscles
  99330	49,XYYYY syndrome
  3456	Wildervanck syndrome
  97249	Pontocerebellar hypoplasia type 3
  466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome
  2971	Peroxisomal acyl-CoA oxidase deficiency
  2149	Nodular neuronal heterotopia
  307936	Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
  99027	Adult-onset autosomal dominant leukodystrophy
  79322	DPM1-CDG
  300359	PLCG2-associated antibody deficiency and immune dysregulation
  251919	Pineal parenchymal tumor of intermediate differentiation
  468631	Microcephalic cortical malformations-short stature due to RTTN deficiency
  35107	Desmosterolosis
  3208	Isolated succinate-CoQ reductase deficiency
  1276	Brachydactyly-arterial hypertension syndrome
  210141	Inherited congenital spastic tetraplegia
  53739	Distal hereditary motor neuropathy
  1437	Ring chromosome 1 syndrome
  97593	Pseudohypoparathyroidism
  102	Multiple system atrophy
  276432	Ogden syndrome
  363540	Leukoencephalopathy with mild cerebellar ataxia and white matter edema
  99125	Congenital total pulmonary venous return anomaly
  370103	Primary dystonia, DYT17 type
  35687	Erdheim-Chester disease
  98955	Lisch epithelial corneal dystrophy
  1163	Aspergillosis
  3005	Pyle disease
  157769	Situs ambiguus
  162	Cataract-glaucoma syndrome
  458798	Spinocerebellar ataxia type 41
  2968	Leukocyte adhesion deficiency
  1150	Arthrogryposis multiplex congenita-whistling face syndrome
  325345	46,XY ovotesticular difference of sex development
  297	Tick-borne encephalitis
  508512	Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome
  90000	Erythema elevatum diutinum
  1454	Joubert syndrome with hepatic defect
  565788	Infantile inflammatory bowel disease with neurological involvement
  3156	Senior-Loken syndrome
  171433	Intermediate nemaline myopathy
  137935	Laryngotracheal angioma
  83472	CAMOS syndrome
  306550	FADD-related immunodeficiency
  91414	Pilomatrixoma
  324	Fabry disease
  684	Paramyotonia congenita of Von Eulenburg
  101351	Familial isolated congenital asplenia
  583861	Isolated mesenteric vein thrombosis
  217012	Spinocerebellar ataxia type 31
  79097	Folinic acid-responsive seizures
  300293	Transient infantile hypertriglyceridemia and hepatosteatosis
  294415	Renal-hepatic-pancreatic dysplasia
  294016	Microcephaly-capillary malformation syndrome
  566192	Congenital autosomal recessive small-platelet thrombocytopenia
  548	Leprosy
  99906	Farmer's lung disease
  3242	Renpenning syndrome
  1642	Distal deletion 9p
  221117	Gerstmann syndrome
  2842	Penoscrotal transposition
  2030	Fibrosarcoma
  100994	Autosomal dominant spastic paraplegia type 13
  83316	Pseudotyphus of California
  968	Acromesomelic dysplasia, Hunter-Thompson type
  300573	Polymicrogyria due to TUBB2B mutation
  99946	Autosomal dominant Charcot-Marie-Tooth disease type 2A1
  889	Cutaneous small vessel vasculitis
  217563	Neonatal acute respiratory distress due to SP-B deficiency
  1439	Ring chromosome 12 syndrome
  2260	Oligomeganephronia
  231445	Paraparetic variant of Guillain-Barré syndrome
  308013	Focal acral hyperkeratosis
  3111	Rotor syndrome
  70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
  3400	Aorto-ventricular tunnel
  1027	Autosomal recessive amelia
  2478	Megalencephalic leukoencephalopathy with subcortical cysts
  221083	Hemifacial spasm
  75392	Periodontal Ehlers-Danlos syndrome
  90058	Spinal cord injury
  228264	Papular elastorrhexis
  79355	Erythrokeratoderma
  447753	Autosomal dominant spastic paraplegia type 9A
  357043	Amyotrophic lateral sclerosis type 4
  309239	Tay-Sachs disease, B1 variant
  556955	Pancreatic agenesis-holoprosencephaly syndrome
  668	Osteosarcoma
  99002	Reticular dystrophy of the retinal pigment epithelium
  324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
  208650	NLRP3-associated autoinflammatory disease
  86852	B-cell prolymphocytic leukemia
  3469	XK aprosencephaly syndrome
  141276	Tessier number 7 facial cleft
  75563	X-linked sideroblastic anemia
  2973	46,XX difference of sex development-anorectal anomalies syndrome
  3051	Nicolaides-Baraitser syndrome
  180126	Complete septate uterus
  195	Cat-eye syndrome
  284149	Craniosynostosis-dental anomalies
  3307	Tetrasomy 18p
  446	Neonatal hemochromatosis
  448270	Ectopia cordis
  466926	Seizures-scoliosis-macrocephaly syndrome
  289385	Malignancy diagnosed during pregnancy
  501	Lafora disease
  85280	X-linked intellectual disability-cubitus valgus-dysmorphism syndrome
  96078	16p13.3 microduplication syndrome
  435372	Anterior urethral valve
  231625	Adrenocortical carcinoma with pure aldosterone hypersecretion
  477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome
  90030	Hemolytic anemia due to glutathione reductase deficiency
  79507	Hypotonia-failure to thrive-microcephaly syndrome
  1643	Xp22.3 microdeletion syndrome
  226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function
  497764	Spinocerebellar ataxia type 43
  251896	Choroid plexus tumor
  2492	FATCO syndrome
  99791	Dentin dysplasia type II
  370980	Congenital muscular dystrophy without intellectual disability
  2059	Fryns syndrome
  633	Laron syndrome
  276161	Multiple endocrine neoplasia
  36238	Staphylococcal necrotizing pneumonia
  96094	Distal duplication 2q
  444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
  199279	Familial angiolipomatosis
  718	Isolated Pierre Robin syndrome
  1553	Curry-Jones syndrome
  300298	Severe congenital hypochromic anemia with ringed sideroblasts
  2697	Arthrogryposis-renal dysfunction-cholestasis syndrome
  1426	Greenberg dysplasia
  96129	Distal deletion 19p
  213823	Adenoid cystic carcinoma of the cervix uteri
  576074	Middle East respiratory syndrome
  1882	Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
  352682	Cobblestone lissencephaly without muscular or ocular involvement
  519384	Congenital cystic eye
  314647	Non-progressive cerebellar ataxia with intellectual disability
  284395	Well-differentiated fetal adenocarcinoma of the lung
  97366	Multiloculated renal cyst
  279925	Infectious panuveitis
  2499	Metachondromatosis
  310	Reflex epilepsy
  1458	CODAS syndrome
  2911	Poland syndrome
  268810	Isolated posterior meningocele
  141083	Nasolacrimal duct cyst
  904	Williams syndrome
  436144	Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome
  98252	Infectious encephalitis
  139578	Mutilating hereditary sensory neuropathy with spastic paraplegia
  431255	Scapuloperoneal spinal muscular atrophy
  565858	Craniosynostosis-microretrognathia-severe intellectual disability syndrome
  95507	Congenital anomaly of hepatic vein
  251674	Chordoid glioma
  67041	Hyaluronidase deficiency
  90062	Acute liver failure
  306511	Autosomal recessive spastic paraplegia type 48
  86869	Lymphomatoid granulomatosis
  1443	Ring chromosome 19 syndrome
  36237	Bullous impetigo
  90790	Congenital lipoid adrenal hyperplasia due to STAR deficency
  97234	Glycogen storage disease due to phosphoglycerate mutase deficiency
  308	Progressive myoclonic epilepsy type 1
  50817	Duane anomaly-myopathy-scoliosis syndrome
  436182	Microcephalic primordial dwarfism-insulin resistance syndrome
  171844	Blindness-scoliosis-arachnodactyly syndrome
  238744	Mammary-digital-nail syndrome
  2584	Classic mycosis fungoides
  171617	Autosomal dominant spastic paraplegia type 38
  418	Congenital adrenal hyperplasia
  2935	Crossed polysyndactyly
  248111	Juvenile Huntington disease
  2975	46,XX difference of sex development-skeletal anomalies syndrome
  71274	Disseminated peritoneal leiomyomatosis
  1471	Coloboma of macula-brachydactyly type B syndrome
  2768	Blount disease
  1676	Idiopathic pulmonary artery dilatation
  1562	Dacryocystitis-osteopoikilosis syndrome
  1867	Hereditary bullous dystrophy, macular type
  445018	Combined immunodeficiency due to LRBA deficiency
  51890	Anterior cutaneous nerve entrapment syndrome
  79302	Congenital bile acid synthesis defect type 3
  280379	Erythropoietic uroporphyria associated with myeloid malignancy
  178307	Reticulate acropigmentation of Kitamura
  86913	Myoclonic epilepsy in non-progressive encephalopathies
  77260	Gaucher disease type 2
  140908	Brachydactyly type B2
  99103	Atrial septal defect, ostium secundum type
  2800	Extramammary Paget disease
  54028	Plummer-Vinson syndrome
  2497	Upper limb mesomelic dysplasia
  573278	Split cord malformation
  231	Dracunculiasis
  79234	Crigler-Najjar syndrome type 1
  108	Babesiosis
  2701	Noonan syndrome-like disorder with loose anagen hair
  2695	Bifid nose
  137817	Arachnoiditis
  447795	Lipoyl transferase 2 deficiency
  171889	Myopathy with hexagonally cross-linked tubular arrays
  370010	Intellectual disability-facial dysmorphism-hand anomalies syndrome
  99092	Interventricular septum aneurysm
  26348	Acquired prothrombin deficiency
  314017	Idiopathic linear interstitial keratitis
  96070	Distal duplication 2p
  71505	Cancer-associated retinopathy
  25980	X-linked myopathy with excessive autophagy
  53715	Familial tumoral calcinosis
  1192	Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
  542568	Quadricuspid aortic valve
  79255	GM1 gangliosidosis type 1
  590539	Isolated melanotic schwannoma
  681	Hypokalemic periodic paralysis
  391397	Hereditary sensory and autonomic neuropathy type 7
  404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  86872	T-cell large granular lymphocyte leukemia
  251595	Diffuse astrocytoma
  99147	Acquired von Willebrand syndrome
  300751	Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
  95448	Congenital aortic valve atresia
  555905	IgA pemphigus
  35808	Malignant sex cord stromal tumor of ovary
  502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
  443950	DNAJB2-related Charcot-Marie-Tooth disease type 2
  458768	Primary intralymphatic angioendothelioma
  178536	Primary cutaneous marginal zone B-cell lymphoma
  238505	Combined immunodeficiency due to CD27 deficiency
  562538	Autosomal recessive extra-oral halitosis
  1442	Ring chromosome 18 syndrome
  319322	Mucinous tubular and spindle cell renal carcinoma
  100046	Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
  99117	Coronary sinus stenosis
  1321	Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome
  50943	Keratolytic winter erythema
  586	Cystic fibrosis
  363717	Alexander disease type I
  1713	17p11.2 microduplication syndrome
  93443	Neonatal osteosclerotic dysplasia
  248408	Familial hypodysfibrinogenemia
  1427	Otospondylomegaepiphyseal dysplasia
  112	Bartter syndrome
  519390	Isolated blepharochalasis
  1005	Alopecia-contractures-dwarfism-intellectual disability syndrome
  251607	Pleomorphic xanthoastrocytoma
  330	Congenital factor XII deficiency
  69745	Warty dyskeratoma
  496756	Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
  79101	Hyperprolinemia type 2
  171719	Cutis laxa-Marfanoid syndrome
  519278	Infective keratitis
  85201	Genitopatellar syndrome
  3124	Saccharopinuria
  289494	4H leukodystrophy
  319600	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  456369	Polyglucosan body myopathy type 2
  99078	Neuhauser anomaly
  37553	Andersen-Tawil syndrome
  3175	X-linked spasticity-intellectual disability-epilepsy syndrome
  228426	Syndromic multisystem autoimmune disease due to Itch deficiency
  127	Borjeson-Forssman-Lehmann syndrome
  99826	Marburg hemorrhagic fever
  280886	Anterior uveitis
  206569	Immune-mediated necrotizing myopathy
  2962	De Barsy syndrome
  2287	Fused mandibular incisors
  71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
  99952	Charcot-Marie-Tooth disease type 4F
  36367	Distal deletion 1q
  3467	Hereditary xanthinuria
  819	Smith-Magenis syndrome
  141061	Commissural lip fistula
  98846	Classic Hodgkin lymphoma, lymphocyte-depleted type
  2574	Moynahan syndrome
  1456	Atypical coarctation of aorta
  64741	Pulmonary blastoma
  3196	Steroid dehydrogenase deficiency-dental anomalies syndrome
  1309	Medullary sponge kidney
  100067	Waterhouse-Friderichsen syndrome
  3008	Pyruvate carboxylase deficiency
  107	BOR syndrome
  402035	Eosinophilic colitis
  93279	Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
  370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy
  402364	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  398961	Mucinous adenocarcinoma of ovary
  420556	Visual snow syndrome
  122	Birt-Hogg-Dubé syndrome
  99810	Familial porencephaly
  480682	POGLUT1-related limb-girdle muscular dystrophy R21
  53696	Arthrogryposis-anterior horn cell disease syndrome
  99119	Right inferior vena cava connecting to left-sided atrium
  93335	Postaxial polydactyly type B
  99731	Isolated sulfite oxidase deficiency
  976	Adenine phosphoribosyltransferase deficiency
  85435	Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis
  280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
  157794	Hereditary mixed polyposis syndrome
  293925	Lethal occipital encephalocele-skeletal dysplasia syndrome
  1397	Hydrocephaly-cerebellar agenesis syndrome
  59303	Neonatal ichthyosis-sclerosing cholangitis syndrome
  320	Apparent mineralocorticoid excess
  70589	Bronchopulmonary dysplasia
  3222	Phosphoribosylpyrophosphate synthetase superactivity
  412022	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
  309020	Familial apolipoprotein C-II deficiency
  2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
  252183	Neurofibroma
  99825	Nipah virus disease
  33577	Nodular non-suppurative panniculitis
  1270	Bowen-Conradi syndrome
  482	Kimura disease
  420573	Severe combined immunodeficiency due to CTPS1 deficiency
  420492	Adult-onset cervical dystonia, DYT23 type
  659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques
  254351	Distal 7q11.23 microdeletion syndrome
  250831	Logopenic progressive aphasia
  276174	Idiopathic recurrent stupor
  464453	Acquired methemoglobinemia
  900	Granulomatosis with polyangiitis
  324972	MAGIC syndrome
  94058	Neovascular glaucoma
  93298	Achondrogenesis type 1B
  79201	Glycogen storage disease
  1475	Renal coloboma syndrome
  140481	Autosomal dominant slowed nerve conduction velocity
  213557	Salivary gland type cancer of the breast
  2819	Spastic paraplegia-facial-cutaneous lesions syndrome
  101111	Spinocerebellar ataxia type 25
  86	Familial abdominal aortic aneurysm
  96181	Maternal uniparental disomy of chromosome 6
  2988	Pterygium colli-intellectual disability-digital anomalies syndrome
  90037	Drug-induced autoimmune hemolytic anemia
  3429	Verloove Vanhorick-Brubakk syndrome
  79430	Hermansky-Pudlak syndrome
  91350	Pituitary deficiency due to Rathke cleft cysts
  210584	Spindle cell hemangioma
  3224	Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
  84090	Fibronectin glomerulopathy
  254902	Renal tubulopathy-encephalopathy-liver failure syndrome
  468672	Colobomatous macrophthalmia-microcornea syndrome
  54247	Posterior cortical atrophy
  300576	Oligodontia-cancer predisposition syndrome
  3232	Deafness-ear malformation-facial palsy syndrome
  98818	Landau-Kleffner syndrome
  86849	Acute basophilic leukemia
  508	Leprechaunism
  1786	Acrofacial dysostosis, Catania type
  98824	Atypical chronic myeloid leukemia
  411777	Generalized eruptive keratoacanthoma
  423296	Spinocerebellar ataxia type 38
  251962	Papillary glioneuronal tumor
  300496	Multiple congenital anomalies-hypotonia-seizures syndrome type 2
  2712	Oculofaciocardiodental syndrome
  90283	Lupus erythematosus tumidus
  166272	Odontochondrodysplasia
  397606	PrP systemic amyloidosis
  505395	Ventilator-induced diaphragmatic dysfunction
  166265	Dentinogenesis imperfecta type 3
  941	D-glyceric aciduria
  313892	Developmental and speech delay due to SOX5 deficiency
  3144	Schneckenbecken dysplasia
  71290	Familial platelet disorder with associated myeloid malignancy
  519392	Isolated iridoschisis
  500163	Witteveen-Kolk syndrome
  1568	X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
  79107	Developmental malformations-deafness-dystonia syndrome
  51083	Familial short QT syndrome
  99077	Kommerell diverticulum
  3110	Rombo syndrome
  330058	Hydroa vacciniforme
  2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
  2889	Pili torti
  363705	Craniofaciofrontodigital syndrome
  549	Legionnaires disease
  454723	Endometrioid carcinoma of ovary
  100924	Porphyria due to ALA dehydratase deficiency
  93336	Polydactyly of a triphalangeal thumb
  79204	Lipid storage disease
  616	Medulloblastoma
  50812	Zellweger-like syndrome without peroxisomal anomalies
  85332	X-linked intellectual disability-retinitis pigmentosa syndrome
  178540	Primary cutaneous follicle center lymphoma
  71278	Congenital brain dysgenesis due to glutamine synthetase deficiency
  293202	Epithelioid sarcoma
  79411	Self-improving dystrophic epidermolysis bullosa
  100	Ataxia-telangiectasia
  411527	Central retinal vein occlusion
  88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
  254463	Lichen planus pigmentosus
  329173	Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
  2505	Multiple benign circumferential skin creases on limbs
  182130	Tumor of endocrine glands
  26	Methylmalonic acidemia with homocystinuria
  1702	Non-distal duplication 13q
  250989	1q21.1 microdeletion syndrome
  1811	Odontomicronychial dysplasia
  477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
  729	Polycythemia vera
  529468	Monoclonal mast cell activation syndrome
  166011	Multiple epiphyseal dysplasia, Beighton type
  2609	Isolated complex I deficiency
  171439	Childhood-onset nemaline myopathy
  85182	Diaphyseal medullary stenosis-bone malignancy syndrome
  71276	Silent sinus syndrome
  423275	Spinocerebellar ataxia type 40
  101108	Spinocerebellar ataxia type 23
  2143	Donnai-Barrow syndrome
  97282	VIPoma
  1000	Ocular albinism with late-onset sensorineural deafness
  3132	Say-Barber-Miller syndrome
  404553	Vasculitis due to ADA2 deficiency
  435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y
  85102	Perineurioma
  308410	Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
  79091	Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
  231154	Combined immunodeficiency due to partial RAG1 deficiency
  3385	African trypanosomiasis
  228236	Linear focal elastosis
  329319	Thrombocythemia with distal limb defects
  1573	Hypotrichosis with juvenile macular degeneration
  329258	Autosomal dominant Charcot-Marie-Tooth disease type 2Q
  2132	Hemoglobin C disease
  178355	Smith-McCort dysplasia
  96253	Cushing disease
  293181	Malignant migrating focal seizures of infancy
  2307	IVIC syndrome
  3283	His bundle tachycardia
  3292	Tel Hashomer camptodactyly syndrome
  85202	Keutel syndrome
  1414	Cholestasis-lymphedema syndrome
  305	Junctional epidermolysis bullosa
  90103	Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
  440221	Congenital oculomotor nerve palsy
  64742	Pleuropulmonary blastoma
  199326	Isolated autosomal dominant hypomagnesemia, Glaudemans type
  77261	Gaucher disease type 3
  488265	Osteofibrous dysplasia
  96069	Distal duplication 1p36
  86854	Splenic marginal zone lymphoma
  461	Recessive X-linked ichthyosis
  74	Angiostrongyliasis
  206575	Rippling muscle disease with myasthenia gravis
  96095	3q26 microduplication syndrome
  1299	Branchioskeletogenital syndrome
  66529	Tako-Tsubo cardiomyopathy
  79149	Dermochondrocorneal dystrophy
  2014	Cleft palate
  570470	Ricin poisoning
  319234	Venezuelan hemorrhagic fever
  391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
  88950	UMOD-related autosomal dominant tubulointerstitial kidney disease
  31827	Paraquat poisoning
  422526	Hereditary clear cell renal cell carcinoma
  1349	Mitochondrial DNA-related cardiomyopathy and hearing loss
  488239	Acute macular neuroretinopathy
  98838	Primary mediastinal large B-cell lymphoma
  63273	Distal myopathy with posterior leg and anterior hand involvement
  228113	Anal fistula
  98757	Spinocerebellar ataxia type 3
  139547	Distal spinal muscular atrophy type 3
  906	Wiskott-Aldrich syndrome
  3253	Cleft lip/palate-ectodermal dysplasia syndrome
  2632	Langer mesomelic dysplasia
  397618	Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome
  447977	Progressive scapulohumeroperoneal distal myopathy
  314419	Ameloblastoma
  99110	Right superior vena cava connecting to left-sided atrium
  1133	AREDYLD syndrome
  87	Apert syndrome
  2182	Hydrocephalus with stenosis of the aqueduct of Sylvius
  2818	Spastic paraplegia-glaucoma-intellectual disability syndrome
  826	Sporotrichosis
  423306	Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome
  324321	Sinoatrial node dysfunction and deafness
  60025	Pulmonary alveolar microlithiasis
  97337	Sinding-Larsen-Johansson disease
  141288	Midline cervical cleft
  1675	Dihydropyrimidine dehydrogenase deficiency
  178311	Isolated sternocostoclavicular hyperostosis
  234	Dubin-Johnson syndrome
  3038	Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
  3366	Non-syndromic metopic craniosynostosis
  853	Fetal and neonatal alloimmune thrombocytopenia
  81	Antisynthetase syndrome
  401780	Autosomal recessive spastic paraplegia type 61
  319229	Bolivian hemorrhagic fever
  294969	Amelia of lower limb
  431149	Combined immunodeficiency due to OX40 deficiency
  563609	Isolated anencephaly
  3004	Mirror polydactyly-vertebral segmentation-limbs defects syndrome
  56425	Cold agglutinin disease
  289685	Myopericytoma
  213751	Malignant germ cell tumor of the corpus uteri
  314376	Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
  1572	Common variable immunodeficiency
  244	Primary ciliary dyskinesia
  797	Sarcoidosis
  279934	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
  251899	Choroid plexus carcinoma
  2440	Isolated split hand-split foot malformation
  2176	Infantile systemic hyalinosis
  363429	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
  2047	Flynn-Aird syndrome
  1762	Proximal Xq28 duplication syndrome
  3239	Deafness-vitiligo-achalasia syndrome
  71211	Neuromyelitis optica spectrum disorder
  75564	Acquired idiopathic sideroblastic anemia
  85138	Addison disease
  228247	Acquired pseudoxanthoma elasticum
  324353	Congenital achiasma
  99072	Congenital patent ductus arteriosus aneurysm
  391474	Frontorhiny
  69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
  848	Beta-thalassemia
  70593	Immunodeficiency due to selective anti-polysaccharide antibody deficiency
  317425	Severe combined immunodeficiency due to DNA-PKcs deficiency
  544254	SYNGAP1-related developmental and epileptic encephalopathy
  722	Hypoplasminogenemia
  488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
  1452	Cleidocranial dysplasia
  178533	Primary cutaneous gamma/delta-positive T-cell lymphoma
  90117	Hereditary motor and sensory neuropathy, Okinawa type
  2787	Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome
  68364	Hemoglobinopathy
  54272	Hepatocellular adenoma
  157846	Neuroferritinopathy
  175	Cartilage-hair hypoplasia
  399058	Alpha-B crystallin-related late-onset myopathy
  2064	Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
  2564	Tetramelic monodactyly
  1202	Larynx atresia
  398069	MAGEL2-related Prader-Willi-like syndrome
  268184	Thiamine-responsive maple syrup urine disease
  562569	TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome
  382	Guanidinoacetate methyltransferase deficiency
  487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
  2736	Lethal omphalocele-cleft palate syndrome
  36383	COL4A1-related familial vascular leukoencephalopathy
  46486	Mucous membrane pemphigoid
  146	Differentiated thyroid carcinoma
  48377	Subcorneal pustular dermatosis
  529574	Duane retraction syndrome with congenital deafness
  98916	Acute inflammatory demyelinating polyradiculoneuropathy
  210571	Dystonia 16
  2429	Macrocephaly-spastic paraplegia-dysmorphism syndrome
  63	Alport syndrome
  488197	Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
  352670	Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
  345	Dissecting cellulitis of the scalp
  330029	Hypotrichosis-deafness syndrome
  542310	Leukoencephalopathy with calcifications and cysts
  95513	Panhypophysitis
  2791	Otodental syndrome
  137667	Capillary malformation-arteriovenous malformation
  263662	Familial multiple meningioma
  261236	16p13.11 microdeletion syndrome
  3433	Microcephaly-brachydactyly-kyphoscoliosis syndrome
  568051	GJC2-related late-onset primary lymphedema
  247203	Collecting duct carcinoma
  268868	Isolated amyelia
  94	Astrocytoma
  3018	Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome
  98878	Hemophilia A
  331235	Selective IgM deficiency
  93409	Brachydactyly-syndactyly, Zhao type
  79319	MPI-CDG
  296	Ollier disease
  370396	Small cell carcinoma of the ovary
  102379	Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent
  357220	Primary essential cutis verticis gyrata
  63455	Paraneoplastic pemphigus
  424073	Serous cystadenocarcinoma of pancreas
  456328	X-linked myotubular myopathy-abnormal genitalia syndrome
  52417	MALT lymphoma
  99107	Atrial septal aneurysm
  587	Muir-Torre syndrome
  2698	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
  168558	46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
  86861	Non-amyloid monoclonal immunoglobulin deposition disease
  435819	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation
  75326	Retinal arterial tortuosity
  85294	X-linked epilepsy-learning disabilities-behavior disorders syndrome
  2057	Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
  3145	Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome
  158775	Smoldering systemic mastocytosis
  97252	Mega-cisterna magna
  1490	Corneal dystrophy-perceptive deafness syndrome
  169085	Susceptibility to respiratory infections associated with CD8alpha chain mutation
  90280	Chilblain lupus
  1344	Atrial standstill
  403	Familial hyperaldosteronism type I
  141132	Oculo-auriculo-vertebral spectrum
  247768	Müllerian aplasia and hyperandrogenism
  2329	Karsch-Neugebauer syndrome
  228402	2q23.1 microdeletion syndrome
  207000	Fungal myositis
  85285	X-linked intellectual disability, Schimke type
  96148	Distal deletion 10q
  499107	Idiopathic optic perineuritis
  96173	Ring chromosome 9 syndrome
  79	Congenital alpha2-antiplasmin deficiency
  99949	Charcot-Marie-Tooth disease type 4C
  331190	Immunodeficiency due to ficolin3 deficiency
  99925	Invasive mole
  2876	PHAVER syndrome
  79100	Atrophoderma vermiculata
  221054	Acrocephalopolydactyly
  2771	Bruck syndrome
  1885	Isolated ectopia lentis
  314572	Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome
  2471	McDonough syndrome
  93569	Polymyalgia rheumatica
  1768	Familial caudal dysgenesis
  48372	Nodular regenerative hyperplasia of the liver
  35063	Fulminant viral hepatitis
  464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome
  90695	Non-acquired panhypopituitarism
  364	Glycogen storage disease due to glucose-6-phosphatase deficiency
  33069	Dravet syndrome
  2368	Gastroschisis
  88661	Amelogenesis imperfecta
  95457	Tricuspid valve agenesis
  251615	Pilomyxoid astrocytoma
  2316	Johnson neuroectodermal syndrome
  363400	Severe neurodegenerative syndrome with lipodystrophy
  475	Joubert syndrome
  397964	Combined immunodeficiency due to MALT1 deficiency
  2095	Gorlin-Chaudhry-Moss syndrome
  488437	SIX2-related frontonasal dysplasia
  85453	X-linked reticulate pigmentary disorder
  93360	Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
  69	Amyloidosis
  324648	Invasive non-typhoidal salmonellosis
  3189	Congenital pulmonary valvar stenosis
  295229	Congenital genu recurvatum
  99994	Complex regional pain syndrome type 2
  85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
  404	Familial hyperaldosteronism type II
  1766	Dysequilibrium syndrome
  220407	Limited systemic sclerosis
  69665	Intrahepatic cholestasis of pregnancy
  99916	Malignant Sertoli-Leydig cell tumor of the ovary
  1892	Ectrodactyly-polydactyly syndrome
  91358	Congenital esophageal diverticulum
  37202	Interstitial cystitis
  1296	Lambert syndrome
  180234	Mixed germ cell tumor
  228410	Polyvalvular heart disease syndrome
  1930	Herpes simplex virus encephalitis
  488647	DDX41-related hematologic malignancy predisposition syndrome
  364039	Hydroa vacciniforme-like lymphoma
  831	Congenital cervical spinal stenosis
  95499	Congenital anomaly of the inferior vena cava
  139431	Jeavons syndrome
  137625	Glycogen storage disease due to muscle and heart glycogen synthase deficiency
  621	Hereditary methemoglobinemia
  254881	Spinocerebellar ataxia with epilepsy
  500548	Osteosclerotic metaphyseal dysplasia
  983	Testicular regression syndrome
  137686	Asherman syndrome
  238624	Idiopathic intracranial hypertension
  308993	Glycerol kinase deficiency
  136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
  93160	Hypocalcemic vitamin D-resistant rickets
  930	Idiopathic achalasia
  2204	Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type
  69723	Tyrosinemia type 3
  1081	Coronary artery congenital malformation
  100016	Lissencephaly with cerebellar hypoplasia type F
  169147	Immunodeficiency due to a classical component pathway complement deficiency
  137608	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
  488232	Split-foot malformation-mesoaxial polydactyly syndrome
  314459	Pseudo-Meigs syndrome
  555402	NAD(P)HX dehydratase deficiency
  168624	Familial scaphocephaly syndrome, McGillivray type
  93283	Spondyloepiphyseal dysplasia, Kimberley type
  79128	Lymphoid interstitial pneumonia
  1964	Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
  261857	Partial deletion of the short arm of chromosome 1
  99099	Cor triatriatum sinister
  435930	Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
  404448	ADNP syndrome
  180114	Unicervical bicornuate uterus
  454718	Holmes-Adie syndrome
  398117	Neonatal dermatomyositis
  293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome
  2843	Pentosuria
  477661	IL21-related infantile inflammatory bowel disease
  391316	Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
  2872	Cardiocranial syndrome, Pfeiffer type
  1858	Skeletal dysplasia-epilepsy-short stature syndrome
  423454	Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
  96346	Anorectal malformation
  576	Mucolipidosis type II
  90060	Diffuse alveolar hemorrhage
  363478	Paratesticular adenocarcinoma
  96125	Distal deletion 6p
  3294	Extensor tendons of finger anomalies
  99977	Squamous cell carcinoma of the esophagus
  69085	Limb-mammary syndrome
  370091	Oculocutaneous albinism type 5
  512017	Chronic lymphoproliferative disorder of natural killer cells
  477684	Combined oxidative phosphorylation defect type 26
  98723	Hypoplastic right heart syndrome
  97362	Renal hypoplasia, bilateral
  213837	Malignant germ cell tumor of the cervix uteri
  95712	Thyroid ectopia
  544602	Congenital myopathy with reduced type 2 muscle fibers
  854	Primitive portal vein thrombosis
  50942	Striate palmoplantar keratoderma
  39812	Graft versus host disease
  171839	Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
  314	Erythroderma desquamativum
  1190	Atelosteogenesis type I
  68373	Peroxisomal disease
  3137	Alpha-N-acetylgalactosaminidase deficiency
  157798	Serrated polyposis syndrome
  171918	T-cell non-Hodgkin lymphoma
  46	Adenylosuccinate lyase deficiency
  68354	Rare sleep disorder
  289377	Early-onset myopathy with fatal cardiomyopathy
  369913	Combined oxidative phosphorylation defect type 17
  263352	Postcardiotomy right ventricular failure
  64739	Ovarian hyperstimulation syndrome
  98954	Meesmann corneal dystrophy
  493342	Vibratory urticaria
  261190	Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion
  95428	COG8-CDG
  86882	Hepatosplenic T-cell lymphoma
  280615	Hemoglobinopathy Toms River
  141112	Nasal glial heterotopia
  39	Acromelanosis
  2152	Mowat-Wilson syndrome
  531151	9q21.13 microdeletion syndrome
  93274	Thanatophoric dysplasia type 2
  440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
  397959	TCR-alpha-beta-positive T-cell deficiency
  3095	Atypical Rett syndrome
  591	Furuncular myiasis
  99130	Congenital partial agenesis of pericardium
  827	Stargardt disease
  91411	Congenital ptosis
  83483	La Crosse encephalitis
  314811	Short stature due to GHSR deficiency
  467176	Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
  3449	Weill-Marchesani syndrome
  97244	Rigid spine syndrome
  2501	Metaphyseal chondrodysplasia, Spahr type
  363654	X-linked parkinsonism-spasticity syndrome
  466650	Exercise-induced malignant hyperthermia
  157	Carnitine palmitoyltransferase II deficiency
  85146	Neurogenic scapuloperoneal syndrome, Kaeser type
  2882	Sitosterolemia
  485	Kniest dysplasia
  576349	NLRC4-related familial cold autoinflammatory syndrome
  178364	Syndromic microphthalmia type 5
  2196	Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
  1008	Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
  90158	Idiopathic localized lipodystrophy
  2674	Cyprus facial-neuromusculoskeletal syndrome
  83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
  414	Gyrate atrophy of choroid and retina
  319519	Combined oxidative phosphorylation defect type 14
  178320	Acute lung injury
  2760	OSLAM syndrome
  163525	Subacute cutaneous lupus erythematosus
  3448	Weaver-Williams syndrome
  2635	Metatropic dysplasia
  99048	Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome
  643	Giant axonal neuropathy
  99139	Unstable hemoglobin disease
  300903	ALK-negative anaplastic large cell lymphoma
  216804	Osteogenesis imperfecta type 2
  309120	Acyl-CoA dehydrogenase deficiency
  85290	X-linked intellectual disability, Wilson type
  2690	Neutropenia-monocytopenia-deafness syndrome
  171695	Parkinsonian-pyramidal syndrome
  171886	Cylindrical spirals myopathy
  59298	Schilder disease
  589442	Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome
  3233	Cochleosaccular degeneration-cataract syndrome
  168612	Congenital deficiency in alpha-fetoprotein
  2672	Neuhauser-Eichner-Opitz syndrome
  2631	Mesomelic dwarfism-cleft palate-camptodactyly syndrome
  563708	Syndromic congenital sodium diarrhea
  99094	Laubry-Pezzi syndrome
  83468	Solitary bone cyst
  438117	Steel syndrome
  100025	Alpha-heavy chain disease
  86817	Hemolytic anemia due to adenylate kinase deficiency
  238455	Infantile dystonia-parkinsonism
  3293	Telecanthus-hypertelorism-strabismus-pes cavus syndrome
  932	Achondrogenesis
  444013	Combined oxidative phosphorylation defect type 23
  2200	Focal palmoplantar and gingival keratoderma
  213736	Low-grade neuroendocrine tumor of the corpus uteri
  300385	Pituitary carcinoma
  397755	Periodic paralysis with transient compartment-like syndrome
  48	Congenital bilateral absence of vas deferens
  71275	Rh deficiency syndrome
  88949	MUC1-related autosomal dominant tubulointerstitial kidney disease
  466775	Autosomal recessive Charcot-Marie-Tooth disease type 2X
  505242	Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
  97346	ADan amyloidosis
  93292	Adenoma of pancreas
  284460	Acute annular outer retinopathy
  363424	Multiple mitochondrial dysfunctions syndrome type 3
  3379	Distal duplication 17q
  448242	Autosomal recessive brachyolmia
  83418	Proximal spinal muscular atrophy type 2
  158681	Epidermolysis bullosa simplex with circinate migratory erythema
  88628	Posterior column ataxia-retinitis pigmentosa syndrome
  447737	DOCK2 deficiency
  370131	White platelet syndrome
  284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
  99329	48,XYYY syndrome
  500188	X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
  420686	Woolly hair-palmoplantar keratoderma syndrome
  75381	Cystoid macular dystrophy
  399103	Distal nebulin myopathy
  139512	Neuropathy with hearing impairment
  160148	Cap polyposis
  480520	Caroli syndrome
  64751	Hereditary motor and sensory neuropathy type 5
  178377	Osteosclerosis-developmental delay-craniosynostosis syndrome
  56305	Atelosteogenesis type III
  70590	Infantile apnea
  86797	Atypical lichen myxedematosus
  521123	Radiation-induced plexopathy
  101101	Charcot-Marie-Tooth disease type 2B2
  37748	Schnitzler syndrome
  363665	Acroosteolysis-keloid-like lesions-premature aging syndrome
  504	Creeping myiasis
  97560	Primary membranous glomerulonephritis
  98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay
  91355	Sheehan syndrome
  141124	Congenital laryngeal cyst
  269203	Isolated cerebellar vermis agenesis
  141030	Third branchial cleft anomaly
  99971	Well-differentiated liposarcoma
  98896	Duchenne muscular dystrophy
  53351	X-linked dystonia-parkinsonism
  99111	Persistent left superior vena cava connecting to the roof of left-sided atrium
  168829	Primary peritoneal carcinoma
  90363	Secondary intestinal lymphangiectasia
  1046	Lethal hemolytic anemia-genital anomalies syndrome
  98959	Subepithelial mucinous corneal dystrophy
  45452	Idiopathic neonatal atrial flutter
  166308	Benign infantile focal epilepsy with midline spikes and waves during sleep
  209335	Autosomal dominant adult-onset proximal spinal muscular atrophy
  96269	Isolated partial vaginal agenesis
  1187	Lethal ataxia with deafness and optic atrophy
  2444	Congenital pulmonary airway malformation
  2023	Undifferentiated pleomorphic sarcoma
  168552	Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome
  329478	Adult-onset distal myopathy due to VCP mutation
  280558	Warsaw breakage syndrome
  330061	Actinic prurigo
  294981	Congenital absence of both lower leg and foot
  3474	CHIME syndrome
  100993	Autosomal dominant spastic paraplegia type 12
  2809	Familial recurrent peripheral facial palsy
  774	Hereditary hemorrhagic telangiectasia
  247718	Inflammatory myopathy with abundant macrophages
  656	Genetic steroid-resistant nephrotic syndrome
  313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
  79502	Punctate palmoplantar keratoderma type 2
  137628	Cardiac anomalies-heterotaxy syndrome
  293381	Epithelial recurrent erosion dystrophy
  352657	Hereditary benign intraepithelial dyskeratosis
  96061	Mosaic trisomy 8
  1342	Heart-hand syndrome type 3
  217396	Progressive polyneuropathy with bilateral striatal necrosis
  269218	Isolated unilateral hemispheric cerebellar hypoplasia
  230851	Cardiac-valvular Ehlers-Danlos syndrome
  2017	Sternal cleft
  580951	Punctate inner choroidopathy
  163721	Rolandic epilepsy-speech dyspraxia syndrome
  1827	Acromelic frontonasal dysplasia
  261349	2p15p16.1 microdeletion syndrome
  319563	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
  589435	Spondylometaphyseal dysplasia-corneal dystrophy syndrome
  75110	Myiasis
  420728	Combined oxidative phosphorylation defect type 20
  1692	Mosaic trisomy 1
  90001	X-linked cone dysfunction syndrome with myopia
  313808	Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
  2617	Microcephalic primordial dwarfism, Montreal type
  137596	Neurotrophic keratopathy
  160	Castleman disease
  63442	Angel-shaped phalango-epiphyseal dysplasia
  289347	Infective dermatitis associated with HTLV-1
  823	Spina bifida and other spinal dysraphisms
  3165	Eosinophilic fasciitis
  1943	Early-onset progressive encephalopathy with migrant continuous myoclonus
  31826	Ethylene glycol poisoning
  570762	Infective endocarditis
  47612	Felty syndrome
  363649	Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome
  744	Proteus syndrome
  79329	MGAT2-CDG
  77259	Gaucher disease type 1
  79143	Isolated congenital anonychia
  2953	Musculocontractural Ehlers-Danlos syndrome
  1973	Faciocardiorenal syndrome
  420741	RIDDLE syndrome
  420561	Temple-Baraitser syndrome
  1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  85110	Familial encephalopathy with neuroserpin inclusion bodies
  99922	Ocular cicatricial pemphigoid
  3236	Conductive deafness-ptosis-skeletal anomalies syndrome
  79406	Late-onset junctional epidermolysis bullosa
  251949	Ganglioglioma
  69126	PAPA syndrome
  94064	Deafness-infertility syndrome
  75378	Oligocone trichromacy
  436274	Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
  261344	Trisomy 1q
  3188	Congenital pulmonary veins atresia or stenosis
  96098	Distal duplication 6q
  266	Autosomal dominant limb-girdle muscular dystrophy type 1A
  252054	Hemangioblastoma
  140969	Saldino-Mainzer syndrome
  140917	Stapes ankylosis with broad thumbs and toes
  2903	Familial spontaneous pneumothorax
  2516	Microcephaly-cardiac defect-lung malsegmentation syndrome
  31112	Dermatofibrosarcoma protuberans
  476113	Combined immunodeficiency due to TFRC deficiency
  251365	Sickle cell-hemoglobin C disease syndrome
  101004	Autosomal recessive spastic paraplegia type 24
  1620	Distal deletion 3p
  233	Duane retraction syndrome
  79144	Isolated congenital onychodysplasia
  284332	Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
  35981	Polymicrogyria
  100978	Cloverleaf skull-asphyxiating thoracic dysplasia syndrome
  88630	Terminal osseous dysplasia-pigmentary defects syndrome
  2006	Median cleft lip/mandible
  547	Non-Hodgkin lymphoma
  457265	Progressive myoclonic epilepsy type 9
  370927	SSR4-CDG
  96097	Distal duplication 5q
  289365	Familial vesicoureteral reflux
  93302	Brachyolmia, Maroteaux type
  533	Listeriosis
  572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus
  1248	Maxillonasal dysplasia
  3173	Infantile spasms-broad thumbs syndrome
  314652	Variant ABeta2M amyloidosis
  423717	Cutaneous larva migrans
  179494	Obesity due to leptin receptor gene deficiency
  98819	Familial temporal lobe epilepsy
  453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
  447777	Keratocystic odontogenic tumor
  98908	Neutral lipid storage myopathy
  1094	Anonychia-microcephaly syndrome
  102009	Classic lissencephaly
  529808	Chronic bilirubin encephalopathy
  155889	Coloboma of inferior eyelid
  2463	Marfanoid habitus-autosomal recessive intellectual disability syndrome
  2289	Neuronal intranuclear inclusion disease
  98960	Thiel-Behnke corneal dystrophy
  439212	Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
  1957	Esthesioneuroblastoma
  200421	Immunodeficiency with factor H anomaly
  247262	Hyperphosphatasia-intellectual disability syndrome
  809	Mixed connective tissue disease
  238593	IgG4-related mesenteritis
  1913	Fetal trimethadione syndrome
  1131	X-linked mandibulofacial dysostosis
  1149	Kuskokwim syndrome
  293199	Pleomorphic rhabdomyosarcoma
  77297	Majeed syndrome
  333	Farber disease
  1199	Esophageal atresia
  54595	Craniopharyngioma
  137593	Infectious epithelial keratitis
  183663	Hyper-IgM syndrome with susceptibility to opportunistic infections
  276598	Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
  174	Metaphyseal chondrodysplasia, Schmid type
  100033	Hypomaturation amelogenesis imperfecta
  521432	Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome
  25	Glutaryl-CoA dehydrogenase deficiency
  291	Congenital varicella syndrome
  238688	Neonatal iodine exposure
  767	Polyarteritis nodosa
  2391	Congenitally short costocoracoid ligament
  139406	Encephalopathy due to prosaposin deficiency
  163727	Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
  79224	Disorder of purine or pyrimidine metabolism
  3459	Wilson-Turner syndrome
  96191	Paternal uniparental disomy of chromosome 6
  95461	Straddling or overriding tricuspid valve
  660	Omphalocele
  457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
  89844	Lissencephaly syndrome, Norman-Roberts type
  405	Familial hypocalciuric hypercalcemia
  498474	Hyaline fibromatosis syndrome
  169808	Mild hemophilia A
  227	Diphallia
  157991	Generalized eruptive histiocytosis
  228227	Late-onset focal dermal elastosis
  79148	Elastosis perforans serpiginosa
  100043	Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
  261204	16p11.2p12.2 microduplication syndrome
  490	Omphalomesenteric cyst
  3455	Wiedemann-Rautenstrauch syndrome
  397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome
  216694	Congenitally corrected transposition of the great arteries
  31153	Hypoalphalipoproteinemia
  95459	Congenital tricuspid stenosis
  402017	Acute myeloid leukemia with t(9;11)(p22;q23)
  99138	Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
  2022	Endocardial fibroelastosis
  306577	Sodium channelopathy-related small fiber neuropathy
  2821	Spastic paraplegia-neuropathy-poikiloderma syndrome
  171680	Lissencephaly due to TUBA1A mutation
  508093	MEPAN syndrome
  842	Testicular seminomatous germ cell tumor
  178563	Primary cutaneous B-cell lymphoma
  841	Sebocystomatosis
  97290	Familial papillary thyroid carcinoma with renal papillary neoplasia
  357158	Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome
  158003	Xanthoma disseminatum
  466677	Scorpion envenomation
  3377	Trismus-pseudocamptodactyly syndrome
  79181	Disorder of histidine metabolism
  2668	Nephropathy-deafness-hyperparathyroidism syndrome
  263516	Progressive myoclonic epilepsy type 3
  1215	Autosomal dominant optic atrophy plus syndrome
  765	Pyruvate dehydrogenase deficiency
  85320	X-linked intellectual disability-macrocephaly-macroorchidism syndrome
  238666	Isolated congenital hypogonadotropic hypogonadism
  454831	Acute radiation syndrome
  634	Netherton syndrome
  508529	Intermediate epidermolysis bullosa simplex with cardiomyopathy
  3440	Waardenburg syndrome
  324611	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
  2885	Piebald trait-neurologic defects syndrome
  295028	Tibio-fibular synostosis
  520	Acute promyelocytic leukemia
  3200	Arthrogryposis-ectodermal dysplasia syndrome
  166081	Von Willebrand disease type 2
  79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
  1354	Heart defects-limb shortening syndrome
  352540	Oncogenic osteomalacia
  3129	Sarcosinemia
  90394	Discrete papular lichen myxedematosus
  99058	Hypoplasia of the mitral valve annulus
  2134	Atypical hemolytic uremic syndrome
  79269	Sanfilippo syndrome type A
  84085	Hinman syndrome
  2181	Hydrocephaly-tall stature-joint laxity syndrome
  183713	Bacterial susceptibility due to TLR signaling pathway deficiency
  66634	Dilated cardiomyopathy with ataxia
  101334	African tick typhus
  289596	Juvenile nasopharyngeal angiofibroma
  892	Von Hippel-Lindau disease
  168544	Spondylometaphyseal dysplasia, Golden type
  1195	Congenital atransferrinemia
  876	Yolk sac tumor
  2342	Haim-Munk syndrome
  35	Propionic acidemia
  423968	Squamous cell carcinoma of the small intestine
  847	Alpha-thalassemia-X-linked intellectual disability syndrome
  141067	Cervicofacial fibrochondroma
  879	Tungiasis
  1906	Fetal valproate spectrum disorder
  70573	Small cell lung cancer
  330054	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
  90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
  2634	Mesomelic dwarfism, Reinhardt-Pfeiffer type
  404514	Acquired cystic disease-associated renal cell carcinoma
  457378	Complex lethal osteochondrodysplasia
  521450	LAMA5-related multisystemic syndrome
  100008	ACys amyloidosis
  56044	Carcinoma of gallbladder and extrahepatic biliary tract
  293967	Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
  70568	Post-transplant lymphoproliferative disease
  557056	Spastic ataxia-dysarthria due to glutaminase deficiency
  242	46,XY complete gonadal dysgenesis
  319308	MiT family translocation renal cell carcinoma
  98994	Total early-onset cataract
  2155	Hirschsprung disease-deafness-polydactyly syndrome
  780	Rhabdomyosarcoma
  391327	X-linked calvarial hyperostosis
  1514	Craniodigital-intellectual disability syndrome
  67	Amoebiasis due to Entamoeba histolytica
  163665	Spondyloepiphyseal dysplasia tarda, Kohn type
  98764	Spinocerebellar ataxia type 27
  306741	Hemidystonia-hemiatrophy syndrome
  52047	Braddock syndrome
  217656	Inherited isolated arrhythmogenic cardiomyopathy
  238329	Severe X-linked mitochondrial encephalomyopathy
  454714	Plasma cell leukemia
  3115	Roussy-Lévy syndrome
  171690	Metabolic myopathy due to lactate transporter defect
  397612	Macrocephaly-developmental delay syndrome
  282	Frontotemporal dementia
  84065	Idiopathic malabsorption due to bile acid synthesis defects
  100011	Lissencephaly with cerebellar hypoplasia type A
  79434	Oculocutaneous albinism type 1B
  246	Postaxial acrofacial dysostosis
  319514	Combined oxidative phosphorylation defect type 13
  447954	Combined oxidative phosphorylation defect type 25
  280586	Chondrodysplasia with joint dislocations, gPAPP type
  98772	Spinocerebellar ataxia type 19/22
  573	Monilethrix
  2985	Pseudoprogeria syndrome
  277	Severe combined immunodeficiency due to adenosine deaminase deficiency
  424058	Intraductal papillary mucinous carcinoma of pancreas
  337	Fibrodysplasia ossificans progressiva
  2901	Neuralgic amyotrophy
  2874	Phakomatosis pigmentokeratotica
  79481	Pemphigus foliaceus
  397596	Activated PI3K-delta syndrome
  289499	Congenital cataract microcornea with corneal opacity
  137599	Herpes simplex virus stromal keratitis
  440233	Congenital abducens nerve palsy
  163690	Hypotonia-cystinuria syndrome
  171866	Spondyloepimetaphyseal dysplasia, aggrecan type
  46488	Linear IgA dermatosis
  404473	Severe intellectual disability-progressive spastic diplegia syndrome
  300319	Charcot-Marie-Tooth disease type 2P
  48686	Primary effusion lymphoma
  189	Hidrotic ectodermal dysplasia
  93262	Crouzon syndrome-acanthosis nigricans syndrome
  100002	Extraneural perineurioma
  583856	Isolated splenic vein thrombosis
  96055	Tetrasomy 21
  1320	Idiopathic camptocormia
  26106	Hereditary diffuse gastric cancer
  488191	Female infertility due to oocyte meiotic arrest
  217253	NMDA receptor encephalitis
  98897	Oculopharyngodistal myopathy
  101000	Autosomal recessive spastic paraplegia type 20
  99071	Aorto-left ventricular tunnel
  476394	PMP2-related Charcot-Marie-Tooth disease type 1
  10	48,XXYY syndrome
  2729	Okamoto syndrome
  276413	10q22.3q23.3 microdeletion syndrome
  73245	Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome
  3015	Radio-renal syndrome
  2521	Microcephaly-cleft palate-abnormal retinal pigmentation syndrome
  2554	Ear-patella-short stature syndrome
  678	Papillon-Lefèvre syndrome
  97285	Thyroid lymphoma
  99860	Precursor B-cell acute lymphoblastic leukemia
  1330	Partial atrioventricular septal defect
  2776	Autosomal recessive distal osteolysis syndrome
  1179	Benign paroxysmal tonic upgaze of childhood with ataxia
  93109	Congenital megacalycosis
  464443	COG6-CGD
  139402	Drug reaction with eosinophilia and systemic symptoms
  3287	Takayasu arteritis
  66630	Congenital pseudoarthrosis of the clavicle
  314795	SHOX-related short stature
  238750	4q21 microdeletion syndrome
  86834	Juvenile myelomonocytic leukemia
  98375	Autoimmune hemolytic anemia
  514352	Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome
  2340	Keratosis follicularis spinulosa decalvans
  98871	Transient erythroblastopenia of childhood
  1486	Lethal congenital contracture syndrome type 1
  447974	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
  363976	Giant cell tumor of bone
  79098	Sympathetic ophthalmia
  93334	Postaxial polydactyly type A
  91387	Familial thoracic aortic aneurysm and aortic dissection
  98917	Acute motor and sensory axonal neuropathy
  141214	Isolated congenital syngnathia
  263425	Nevus of Ota
  275766	Idiopathic pulmonary arterial hypertension
  100050	Hereditary angioedema type 1
  98811	Paroxysmal exertion-induced dyskinesia
  213605	Carcinofibroma of the corpus uteri
  398088	Hereditary cryohydrocytosis with normal stomatin
  59	Allan-Herndon-Dudley syndrome
  89838	Autosomal recessive generalized epidermolysis bullosa simplex
  1861	Thoracic dysplasia-hydrocephalus syndrome
  71517	Rapid-onset dystonia-parkinsonism
  702	Pelizaeus-Merzbacher disease
  840	Syringocystadenoma papilliferum
  319552	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
  69077	Rhabdoid tumor
  500180	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
  35093	Non-syndromic sagittal craniosynostosis
  943	Malonic aciduria
  99868	Thymic carcinoma
  91354	Pituitary deficiency due to empty sella turcica syndrome
  171829	6q16 microdeletion syndrome
  509	Leptospirosis
  140933	Linear atrophoderma of Moulin
  79225	Sphingolipidosis
  65250	Perineural cyst
  99123	Inferior vena cava interruption without azygos continuation
  238621	Ileal pouch anal anastomosis related faecal incontinence
  251262	Familial osteochondritis dissecans
  2646	Parastremmatic dwarfism
  3079	Intellectual disability, Buenos-Aires type
  939	3-hydroxyisobutyric aciduria
  3273	Synovial sarcoma
  682	Hyperkalemic periodic paralysis
  1171	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
  33402	Pediatric hepatocellular carcinoma
  68356	Leukodystrophy
  276405	Hyperbiliverdinemia
  324585	Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
  163	Hereditary hyperferritinemia-cataract syndrome
  46724	Cerebral arteriovenous malformation
  187	Citrullinemia
  91131	DK1-CDG
  98773	Spinocerebellar ataxia type 21
  231160	Familial cerebral saccular aneurysm
  280183	Methylmalonic aciduria due to transcobalamin receptor defect
  319646	PGM1-CDG
  391320	East Texas bleeding disorder
  269229	Pontine tegmental cap dysplasia
  99953	Charcot-Marie-Tooth disease type 4G
  90024	Deafness with labyrinthine aplasia, microtia, and microdontia
  363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
  447788	Cerebral visual impairment
  3453	Autoimmune polyendocrinopathy type 1
  29	Mevalonic aciduria
  487814	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
  488650	Distal myopathy, Tateyama type
  716	Phenylketonuria
  505216	3-methylglutaconic aciduria type 9
  2111	Cystic hamartoma of lung and kidney
  467166	Tubulinopathy-associated dysgyria
  90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
  363611	CTCF-related neurodevelopmental disorder
  96059	Mosaic trisomy 4
  98961	Reis-Bücklers corneal dystrophy
  263524	Acute necrotizing encephalopathy of childhood
  180182	Supernumerary breasts
  141194	Cerebrofacial arteriovenous metameric syndrome type 1
  280774	Generalized essential telangiectasia
  903	Von Willebrand disease
  91491	Congenital ectropion uveae
  98809	Paroxysmal kinesigenic dyskinesia
  2128	Isolated hemihyperplasia
  438274	GCGR-related hyperglucagonemia
  314802	Short stature due to partial GHR deficiency
  580933	Lethal brain and heart developmental defects
  99846	Autosomal dominant myoglobinuria
  93568	Juvenile polymyositis
  404454	Alacrimia-choreoathetosis-liver dysfunction syndrome
  2563	MOMO syndrome
  2213	Hypertelorism-microtia-facial clefting syndrome
  314034	7p22.1 microduplication syndrome
  96149	Distal deletion 12q
  1928	Congenital lobar emphysema
  437552	Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
  70475	Radiation proctitis
  140896	Severe acute respiratory syndrome
  495274	Charcot-Marie-Tooth disease type 2T
  1084	Isolated lissencephaly type 1 without known genetic defects
  438207	Severe autosomal recessive macrothrombocytopenia
  156728	Spondyloepimetaphyseal dysplasia, matrilin-3 type
  401986	1p31p32 microdeletion syndrome
  295014	Familial isolated clinodactyly of fingers
  93299	Achondrogenesis type 1A
  79136	Episodic ataxia type 4
  200	Isolated corpus callosum agenesis
  1685	Distomatosis
  457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
  24	Fumaric aciduria
  289661	Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly
  1047	Sideroblastic anemia
  420485	Cranio-cervical dystonia with laryngeal and upper-limb involvement
  261250	16q24.3 microdeletion syndrome
  3220	Deafness-enamel hypoplasia-nail defects syndrome
  1972	Lethal faciocardiomelic dysplasia
  93388	Brachydactyly type A1
  391673	Necrotizing enterocolitis
  401901	Huntington disease-like syndrome due to C9ORF72 expansions
  268145	Classic maple syrup urine disease
  2774	Multicentric carpo-tarsal osteolysis with or without nephropathy
  589618	Dystonia 28
  1501	Adrenocortical carcinoma
  370930	XYLT1-CDG
  90002	Undifferentiated connective tissue syndrome
  101088	X-linked hyper-IgM syndrome
  171863	Autosomal dominant spastic paraplegia type 42
  90160	Pressure-induced localized lipoatrophy
  99905	Streptobacillary rat-bite fever
  280898	Panuveitis
  137929	Neonatal brainstem dysfunction
  217622	Sensorineural deafness with dilated cardiomyopathy
  3471	Young syndrome
  166078	Von Willebrand disease type 1
  466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
  79137	Generalized epilepsy-paroxysmal dyskinesia syndrome
  250932	Autosomal dominant optic atrophy and peripheral neuropathy
  921	Abruzzo-Erickson syndrome
  98010	Infectious disease of the nervous system
  2273	Ichthyosis follicularis-alopecia-photophobia syndrome
  95702	X-linked adrenal hypoplasia congenita
  206594	Subacute inflammatory demyelinating polyneuropathy
  166096	Von Willebrand disease type 3
  2138	46,XX ovotesticular difference of sex development
  98972	Central cloudy dystrophy of François
  313947	2q23.1 microduplication syndrome
  2526	Microcephaly-lymphedema-chorioretinopathy syndrome
  2941	Porencephaly-cerebellar hypoplasia-internal malformations syndrome
  352	Galactosemia
  65286	3q29 microdeletion syndrome
  480701	Facial diplegia with paresthesias
  480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
  423994	Squamous cell carcinoma of the colon
  139507	Dietary iron overload disease
  314394	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
  2326	Kallmann syndrome-heart disease syndrome
  2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
  480531	Congenital portosystemic shunt
  157215	Hereditary hypophosphatemic rickets with hypercalciuria
  238569	Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
  361	Familial glucocorticoid deficiency
  778	Rett syndrome
  90031	Non-spherocytic hemolytic anemia due to hexokinase deficiency
  163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
  35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency
  268162	Intermediate maple syrup urine disease
  71279	CANOMAD syndrome
  2167	Holzgreve syndrome
  412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
  306648	Non-infectious anterior uveitis
  86851	Acute leukemia of ambiguous lineage
  2007	Alar cartilages hypoplasia-coloboma-telecanthus syndrome
  747	Autoimmune pulmonary alveolar proteinosis
  97229	Riboflavin transporter deficiency
  503	Larsen syndrome
  329883	Non-hypoproteinemic hypertrophic gastropathy
  93573	Thrombotic microangiopathy
  494550	Squamous cell carcinoma of the larynx
  251646	Anaplastic ependymoma
  224	Neonatal diabetes mellitus
  468666	Isolated generalized anhidrosis with normal sweat glands
  329242	Congenital chronic diarrhea with protein-losing enteropathy
  166282	Familial sick sinus syndrome
  293603	Congenital hereditary endothelial dystrophy type II
  280071	ALG11-CDG
  1790	Hypomandibular faciocranial dysostosis
  2717	Oculotrichoanal syndrome
  3096	Reye syndrome
  314451	Meigs syndrome
  300501	Painful orbital and systemic neurofibromas-marfanoid habitus syndrome
  168796	Heart-hand syndrome, Slovenian type
  1681	Diprosopus
  636	Neurofibromatosis type 1
  140957	Autosomal dominant macrothrombocytopenia
  166016	Multiple epiphyseal dysplasia, Lowry type
  3104	Robin sequence-oligodactyly syndrome
  50814	Craniolenticulosutural dysplasia
  567544	Idiopathic non-lupus full-house nephropathy
  163681	CNTNAP2-related developmental and epileptic encephalopathy
  3314	Thiemann disease, familial form
  435329	Familial ossifying fibroma
  293375	Grayson-Wilbrandt corneal dystrophy
  435988	Chronic atrial and intestinal dysrhythmia syndrome
  228299	Mid-dermal elastolysis
  157832	Craniorhiny
  566231	Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha
  163956	X-linked intellectual disability, Nascimento type
  93338	Polysyndactyly
  1293	Brachyolmia
  1716	Distal duplication 18q
  324530	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
  2645	Osteoglosphonic dysplasia
  1297	Branchio-oculo-facial syndrome
  313850	Infantile cerebellar-retinal degeneration
  79086	Acquired generalized lipodystrophy
  53719	Wyburn-Mason syndrome
  261102	Distal 7q11.23 microduplication syndrome
  209908	Isolated childhood apraxia of speech
  99083	Pulmonary artery hypoplasia
  565612	Primary triglyceride deposit cardiomyovasculopathy
  2460	Van den Ende-Gupta syndrome
  563684	Furuncular myiasis due to Dermatobia hominis
  521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome
  98856	Charcot-Marie-Tooth disease type 2B1
  280356	PLIN1-related familial partial lipodystrophy
  447731	NIK deficiency
  2779	Osteopathia striata-pigmentary dermopathy-white forelock syndrome
  1122	Ulnar hypoplasia-split foot syndrome
  244310	RFT1-CDG
  284339	Pontocerebellar hypoplasia type 7
  165991	Exercise-induced hyperinsulinism
  86867	Nodal marginal zone B-cell lymphoma
  99879	Familial isolated hyperparathyroidism
  2439	Patterson-Stevenson-Fontaine syndrome
  141013	First branchial cleft anomaly
  83463	Microtia
  466962	SMARCA4-deficient sarcoma of thorax
  423384	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
  275543	L1 syndrome
  280133	Complement component 3 deficiency
  2710	Oculodentodigital dysplasia
  166291	Dirofilariasis
  572761	DONSON-related microcephaly-short stature-limb abnormalities spectrum
  2334	Autosomal dominant keratitis
  98825	Unclassified myelodysplastic/myeloproliferative disease
  2386	Leukoencephalopathy-palmoplantar keratoderma syndrome
  90362	Primary intestinal lymphangiectasia
  935	Short-limb skeletal dysplasia with severe combined immunodeficiency
  66631	CEDNIK syndrome
  353253	Burning mouth syndrome
  59306	McLeod neuroacanthocytosis syndrome
  86850	Myeloid sarcoma
  838	Susac syndrome
  2831	Rhizomelic dysplasia, Patterson-Lowry type
  1910	Fetal iodine syndrome
  394	Classic homocystinuria
  33445	Neuroectodermal melanolysosomal disease
  288	Hereditary elliptocytosis
  231632	Ectopic aldosterone-producing tumor
  506136	Neuroendocrine neoplasm of esophagus
  199630	Isolated cerebellar vermis hypoplasia
  99061	Accessory mitral valve tissue
  2795	Fowler urethral sphincter dysfunction syndrome
  79400	Localized epidermolysis bullosa simplex
  98758	Spinocerebellar ataxia type 6
  210133	Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome
  505	Graham Little-Piccardi-Lassueur syndrome
  99076	Persistent fifth aortic arch
  978	ADULT syndrome
  418945	Carcinoma of esophagus, salivary gland type
  2266	Hypotrichosis-intellectual disability, Lopes type
  91378	Hereditary angioedema
  263487	COG5-CDG
  329894	Juvenile overlap myositis
  309830	Disorder of catecholamine synthesis
  97360	Robinow syndrome
  505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
  193	Cohen syndrome
  3303	Tetralogy of Fallot
  41	Dyschromatosis symmetrica hereditaria
  732	Polymyositis
  2249	Ulna hypoplasia-intellectual disability syndrome
  86812	POMT1-related limb-girdle muscular dystrophy R11
  300564	Combined pulmonary fibrosis-emphysema syndrome
  276422	10q22.3q23.3 microduplication syndrome
  1130	Arachnodactyly-intellectual disability-dysmorphism syndrome
  882	Tyrosinemia type 1
  50945	Blomstrand lethal chondrodysplasia
  3394	Soft tissue sarcoma
  1495	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
  2353	Schilbach-Rott syndrome
  639	Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG
  83482	Mycoplasma encephalitis
  398053	Adenocarcinoma of the penis
  79357	Hereditary palmoplantar keratoderma
  568062	PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis
  93953	Familial thyroglossal duct cyst
  166108	Intellectual disability, Birk-Barel type
  209951	Autosomal spastic paraplegia type 18
  268316	Complication in hemodialysis
  2394	Pyruvate dehydrogenase E3 deficiency
  93293	Okihiro syndrome
  231466	Acute sensory ataxic neuropathy
  231580	Primary unilateral adrenal hyperplasia
  329217	Cerebral sinovenous thrombosis
  438279	Human infection by orthopoxvirus
  2966	Properdin deficiency
  319160	Congenital myopathy with internal nuclei and atypical cores
  83454	Glomuvenous malformation
  158684	Epidermolysis bullosa simplex with pyloric atresia
  545	Follicular lymphoma
  83593	Western equine encephalitis
  439224	ALECT2 amyloidosis
  213721	Undifferentiated carcinoma of the corpus uteri
  90052	Recurrent hepatitis C virus induced liver disease in liver transplant recipients
  63999	IgG4-related mediastinitis
  466026	Class I glucose-6-phosphate dehydrogenase deficiency
  99967	Myxoid/round cell liposarcoma
  871	Familial progressive cardiac conduction defect
  90650	Otopalatodigital syndrome type 1
  238468	Hypohidrotic ectodermal dysplasia
  401953	Episodic ataxia with slurred speech
  100973	FRAXE intellectual disability
  209981	IRIDA syndrome
  420702	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  3193	Supravalvular aortic stenosis
  86896	Histiocytic sarcoma
  1911	Cocaine embryofetopathy
  320370	Autosomal recessive spastic paraplegia type 43
  98963	Granular corneal dystrophy type II
  52056	Ulnar/fibula ray defect-brachydactyly syndrome
  465824	Fetal encasement syndrome
  2003	Cleft lip/palate-deafness-sacral lipoma syndrome
  85445	AA amyloidosis
  508488	8q24.3 microdeletion syndrome
  352763	Scleredema
  2804	W syndrome
  79140	Cutaneous neuroendocrine carcinoma
  251656	Oligoastrocytoma
  264200	14q22q23 microdeletion syndrome
  60039	Pudendal neuralgia
  1561	Fatal infantile cytochrome C oxidase deficiency
  1114	Aplasia cutis congenita
  229717	Isolated agammaglobulinemia
  103919	Autoimmune pancreatitis
  79242	Holocarboxylase synthetase deficiency
  96096	Distal duplication 4q
  494439	Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
  399086	Finnish upper limb-onset distal myopathy
  247573	Late-onset citrullinemia type I
  36204	Intestinal lymphangiectasia
  251627	Oligodendroglioma
  268249	Mycophenolate mofetil embryopathy
  2952	Adducted thumbs-arthrogryposis syndrome, Christian type
  178512	Folliculotropic mycosis fungoides
  34592	Immunodeficiency by defective expression of MHC class I
  243	46,XX gonadal dysgenesis
  2888	Pierre Robin syndrome-faciodigital anomaly syndrome
  140997	Orofaciodigital syndrome
  52503	X-linked creatine transporter deficiency
  1520	Craniofrontonasal dysplasia
  324535	Combined oxidative phosphorylation defect type 11
  85278	Christianson syndrome
  3197	Hereditary hyperekplexia
  1875	Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
  293987	Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
  1352	Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
  157843	Trigeminal autonomic cephalalgia
  209905	Brain-lung-thyroid syndrome
  330001	Wild type ATTR amyloidosis
  2835	Pectus excavatum-macrocephaly-dysplastic nails syndrome
  3338	Toriello-Carey syndrome
  90635	Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
  83476	West-Nile encephalitis
  93276	Polyostotic fibrous dysplasia
  178478	Infant botulism
  309324	Free sialic acid storage disease, infantile form
  577	Mucolipidosis type III
  1986	Gollop-Wolfgang complex
  79480	Pemphigus erythematosus
  2063	Splenogonadal fusion-limb defects-micrognathia syndrome
  329195	Developmental delay with autism spectrum disorder and gait instability
  309282	Alpha-mannosidosis, infantile form
  457077	TAFRO syndrome
  90044	Familial pseudohyperkalemia
  551	MERRF
  506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
  2036	Scalp-ear-nipple syndrome
  99122	Congenital stenosis of the inferior vena cava
  251576	Gliosarcoma
  2772	Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
  3404	Ulbright-Hodes syndrome
  769	Rabson-Mendenhall syndrome
  300865	Primary cutaneous anaplastic large cell lymphoma
  68335	Rare chromosomal anomaly
  314978	X-linked non progressive cerebellar ataxia
  93164	Transient pseudohypoaldosteronism
  261144	FOXG1 syndrome due to 14q12 microdeletion
  309127	3-hydroxyacyl-CoA dehydrogenase deficiency
  95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
  66518	Short fifth metacarpals-insulin resistance syndrome
  2184	Hydrocephaly-low insertion umbilicus syndrome
  3246	Symphalangism with multiple anomalies of hands and feet
  576379	Iatrogenic Creutzfeldt-Jakob disease
  3260	Idiopathic hypereosinophilic syndrome
  1509	Coxopodopatellar syndrome
  69087	Naegeli-Franceschetti-Jadassohn syndrome
  300345	Autosomal systemic lupus erythematosus
  2502	Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
  90796	46,XY difference of sex development due to isolated 17,20-lyase deficiency
  2951	Absent thumb-short stature-immunodeficiency syndrome
  2031	Hepatic fibrosis-renal cysts-intellectual disability syndrome
  356	Gerstmann-Straussler-Scheinker syndrome
  168563	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
  252046	Meningeal melanocytoma
  440987	Isolated agenesis of gallbladder
  331	Congenital factor XIII deficiency
  498497	Short rib-polydactyly syndrome type 5
  289326	Tropical spastic paraparesis
  1138	Abnormal origin of the pulmonary artery
  94083	Partington syndrome
  201	Cowden syndrome
  2209	Maternal phenylketonuria
  284979	Neonatal Marfan syndrome
  83642	Microcytic anemia with liver iron overload
  363494	Non-seminomatous germ cell tumor of testis
  99802	Hemimegalencephaly
  3205	Sturge-Weber syndrome
  206599	Isolated asymptomatic elevation of creatine phosphokinase
  158778	Isolated bone marrow mastocytosis
  91364	Non-specific interstitial pneumonia
  3416	Hyperostosis corticalis generalisata
  101932	Anomaly of the mitral subvalvular apparatus
  2946	Brachydactyly-long thumb syndrome
  1580	Distal deletion 10p
  79299	Congenital glucokinase-related hyperinsulinism
  275555	Preeclampsia
  94063	12q14 microdeletion syndrome
  279919	Infectious posterior uveitis
  93311	Multiple epiphyseal dysplasia type 5
  464756	Familial gastric type 1 neuroendocrine tumor
  464321	Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome
  2467	Systemic mastocytosis
  28378	Tyrosinemia type 2
  255210	Mitochondrial DNA-associated Leigh syndrome
  2370	Larsen-like osseous dysplasia-short stature syndrome
  2566	Chronic Epstein-Barr virus infection syndrome
  1962	Exostoses-anetodermia-brachydactyly type E syndrome
  247234	Sporadic adult-onset ataxia of unknown etiology
  171436	Typical nemaline myopathy
  2387	Leukonychia totalis
  326	Congenital factor V deficiency
  1738	Trisomy 4p
  464724	Fever-associated acute infantile liver failure syndrome
  99101	Ectasia of the right atrial appendage
  2456	Familial supernumerary nipples
  2653	Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome
  436252	Combined immunodeficiency-enteropathy spectrum
  2089	Glycogen storage disease due to hepatic glycogen synthase deficiency
  525738	Prepubertal anorexia nervosa
  280270	Pelizaeus-Merzbacher-like disease
  93352	Spondyloepimetaphyseal dysplasia, Shohat type
  357008	Hemolytic uremic syndrome with DGKE deficiency
  329324	Inverse Klippel-Trénaunay syndrome
  724	Idiopathic acute eosinophilic pneumonia
  2162	Holoprosencephaly
  97678	Maternal uniparental disomy of chromosome 13
  314389	Xq12-q13.3 duplication syndrome
  248	Autosomal recessive hypohidrotic ectodermal dysplasia
  319247	Hantavirus pulmonary syndrome
  517	Acute myelomonocytic leukemia
  1175	X-linked progressive cerebellar ataxia
  79157	2-methylbutyryl-CoA dehydrogenase deficiency
  1106	Microphthalmia with limb anomalies
  276608	Non-insulinoma pancreatogenous hypoglycemia syndrome
  158048	Hemophagocytic syndrome associated with an infection
  86904	Methotrexate-associated lymphoproliferative disorders
  529799	Acute bilirubin encephalopathy
  2004	Laryngotracheoesophageal cleft
  71203	Autoimmune thrombocytopenia
  324625	Chikungunya
  1438	Ring chromosome 10 syndrome
  370088	Acute infantile liver failure-multisystemic involvement syndrome
  439196	Zinc-responsive necrolytic acral erythema
  42665	Tietz syndrome
  524	Li-Fraumeni syndrome
  100048	Tubular duplication of the esophagus
  423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
  2172	Microcephaly-glomerulonephritis-marfanoid habitus syndrome
  228384	5q14.3 microdeletion syndrome
  237	Duplication of urethra
  2301	Congenital short bowel syndrome
  319581	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
  1166	Congenital unilateral hypoplasia of depressor anguli oris
  1818	Ectodermal dysplasia, trichoodontoonychial type
  18	Distal renal tubular acidosis
  88673	Hepatocellular carcinoma
  113	Bazex-Dupré-Christol syndrome
  313884	12p12.1 microdeletion syndrome
  90368	Hypotrichosis simplex of the scalp
  139485	Autosomal recessive ataxia due to ubiquinone deficiency
  289539	BAP1-related tumor predisposition syndrome
  52416	Mantle cell lymphoma
  83453	Vulvovaginal gingival syndrome
  910	Xeroderma pigmentosum
  99079	Cervical aortic arch
  51084	Torsade-de-pointes syndrome with short coupling interval
  2613	Nail-patella-like renal disease
  99898	Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
  542301	Combined immunodeficiency due to CARMIL2 deficiency
  1387	Cataract-intellectual disability-hypogonadism syndrome
  99736	Acetazolamide-responsive myotonia
  739	Prader-Willi syndrome
  2300	Multiple intestinal atresia
  449400	IgG4-related aortitis
  2048	Foix-Chavany-Marie syndrome
  90038	Shiga toxin-associated hemolytic uremic syndrome
  69739	Athabaskan brainstem dysgenesis syndrome
  314721	Atypical dentin dysplasia due to SMOC2 deficiency
  75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
  313781	20p13 microdeletion syndrome
  261534	49,XXXYY syndrome
  317	Erythrokeratodermia variabilis
  36397	Adiposis dolorosa
  295016	Camptodactyly of fingers
  3020	Ramsay Hunt syndrome
  101009	Autosomal dominant spastic paraplegia type 29
  206991	Viral myositis
  85329	X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome
  141333	Biemond syndrome type 2
  238722	Familial congenital mirror movements
  931	Acheiropodia
  158025	Hereditary progressive mucinous histiocytosis
  440706	Ribose-5-P isomerase deficiency
  487825	Pierpont syndrome
  251612	Pilocytic astrocytoma
  476406	Congenital generalized hypercontractile muscle stiffness syndrome
  97279	Insulinoma
  97120	Distal arthrogryposis
  99943	Autosomal dominant Charcot-Marie-Tooth disease type 2J
  2470	Matthew-Wood syndrome
  91348	Functioning gonadotropic adenoma
  90350	Autosomal recessive cutis laxa type 2
  447764	IgG4-related sclerosing cholangitis
  2709	Oculodental syndrome, Rutherfurd type
  129	Pseudopelade of Brocq
  95713	Athyreosis
  213711	Endometrial stromal sarcoma
  309031	Pancreatic triacylglycerol lipase deficiency
  3003	Pyknoachondrogenesis
  1581	Non-distal deletion 10q
  94086	Blue diaper syndrome
  53693	GRACILE syndrome
  99672	Fried's tooth and nail syndrome
  247820	Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome
  71213	Retinal capillary malformation
  99124	Congenital partial pulmonary venous return anomaly
  2536	Microcornea-glaucoma-absent frontal sinuses syndrome
  424996	Squamous cell carcinoma of gallbladder and extrahepatic biliary tract
  220497	Joubert syndrome with renal defect
  1246	Brachydactyly-nystagmus-cerebellar ataxia syndrome
  429	Hypochondroplasia
  171848	Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
  31204	Nocardiosis
  2728	Blepharophimosis-intellectual disability syndrome, Ohdo type
  251043	Ring chromosome 5 syndrome
  93322	Tibial hemimelia
  314684	Primary bone lymphoma
  319524	Combined oxidative phosphorylation defect type 15
  331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency
  457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
  1327	Camptodactyly syndrome, Guadalajara type 1
  101016	Romano-Ward syndrome
  206489	Malignant germ cell tumor of the vagina
  963	Acromegaly
  217067	Pouchitis
  137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
  2378	Laurin-Sandrow syndrome
  86830	Chronic myeloproliferative disease, unclassifiable
  458758	Composite hemangioendothelioma
  443811	PGM3-CDG
  213746	Transitional cell carcinoma of the corpus uteri
  439897	Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
  261112	Monosomy 9p
  1001	2q37 microdeletion syndrome
  1332	Medullary thyroid carcinoma
  96	Ataxia with vitamin E deficiency
  83469	Desmoplastic small round cell tumor
  440713	Isolated sedoheptulokinase deficiency
  476096	Erythrokeratodermia-cardiomyopathy syndrome
  2703	Port-wine nevi-mega cisterna magna-hydrocephalus syndrome
  86813	Helicoid peripapillary chorioretinal degeneration
  99956	Charcot-Marie-Tooth disease type 4B2
  3034	Delayed membranous cranial ossification
  313795	Jawad syndrome
  141234	Median facial cleft
  217064	5-fluorouracil poisoning
  817	Peeling skin syndrome
  276399	Familial multinodular goiter
  250	Frontonasal dysplasia
  100024	Mu-heavy chain disease
  261290	Trisomy 17p
  93406	Syndactyly type 5
  100073	Neurogenic thoracic outlet syndrome
  435638	3p25.3 microdeletion syndrome
  251623	Pituicytoma
  15	Achondroplasia
  79139	Japanese encephalitis
  538	Lymphangioleiomyomatosis
  100026	Gamma-heavy chain disease
  206436	Infantile Krabbe disease
  90051	Sepsis in premature infants
  48918	Focal myositis
  35704	L-Arginine:glycine amidinotransferase deficiency
  3068	Intellectual disability-myopathy-short stature-endocrine defect syndrome
  1234	Bartsocas-Papas syndrome
  556985	Early-onset calcifying leukoencephalopathy-skeletal dysplasia
  2309	Pachyonychia congenita
  411703	Pulmonary non-tuberculous mycobacterial infection
  71271	Split hand-split foot-deafness syndrome
  289157	Hypocalcemic vitamin D-dependent rickets
  206492	Vulvovaginal rhabdomyosarcoma
  1587	Monosomy 13q14
  401869	Multiple mitochondrial dysfunctions syndrome type 1
  2252	Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
  401964	Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
  100078	Ileal neuroendocrine tumor
  180129	Partial septate uterus
  247165	Infantile mercury poisoning
  538958	Combined immunodeficiency due to CD70 deficiency
  411493	Pontocerebellar hypoplasia type 10
  98895	Becker muscular dystrophy
  79456	Diffuse cutaneous mastocytosis
  96112	Non-distal duplication 9q
  2408	Lowe-Kohn-Cohen syndrome
  3207	White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
  330015	Lead poisoning
  563676	Seromucinous cystadenoma of childhood
  563690	Furuncular myiasis due to Cordylobia rodhaini
  251992	Ganglioneuroma
  319504	Combined oxidative phosphorylation defect type 8
  209932	Cone dystrophy with supernormal rod response
  498488	Overgrowth syndrome with 2q37 translocation
  356961	SLC35A2-CDG
  90289	Localized scleroderma
  251863	Desmoplastic/nodular medulloblastoma
  103907	Chronic diarrhea due to glucoamylase deficiency
  354	GM1 gangliosidosis
  292	Congenital enterovirus infection
  225147	Sporadic infantile bilateral striatal necrosis
  79257	GM1 gangliosidosis type 3
  217266	BNAR syndrome
  411501	Williams-Campbell syndrome
  90646	Deafness-hypogonadism syndrome
  93296	Achondrogenesis type 2
  567548	Idiopathic steroid-resistant nephrotic syndrome
  457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
  67048	3-methylglutaconic aciduria type 4
  67042	Late-onset retinal degeneration
  163684	Leukoencephalopathy-dystonia-motor neuropathy syndrome
  99852	Ravine syndrome
  329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy
  3214	Deaf blind hypopigmentation syndrome, Yemenite type
  85168	Craniofacial conodysplasia
  3368	Trigonocephaly-bifid nose-acral anomalies syndrome
  324737	SRD5A3-CDG
  1706	Mosaic trisomy 15
  95706	Non-syndromic posterior hypospadias
  2805	Partial pancreatic agenesis
  2533	Microcephaly-deafness-intellectual disability syndrome
  579	Mucopolysaccharidosis type 1
  589	Myasthenia gravis
  401830	Autosomal recessive spastic paraplegia type 69
  370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
  3437	Vogt-Koyanagi-Harada disease
  280065	Calciphylaxis cutis
  79138	Bickerstaff brainstem encephalitis
  100080	Neuroendocrine tumor of the colon
  443227	Paratyphoid fever
  319254	Kyasanur forest disease
  279904	Primary intraocular lymphoma
  287	Classical Ehlers-Danlos syndrome
  137631	Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
  99710	Punctate acrokeratoderma freckle-like pigmentation
  64	Alström syndrome
  2056	Essential fructosuria
  424080	Undifferentiated carcinoma with osteoclast-like giant cells of pancreas
  3219	Fountain syndrome
  2119	HEC syndrome
  868	Triose phosphate-isomerase deficiency
  308467	Disorder of galactose metabolism
  1214	Progressive hemifacial atrophy
  137675	Histiocytoid cardiomyopathy
  398097	Neonatal antiphospholipid syndrome
  39041	Omenn syndrome
  216	Neuronal ceroid lipofuscinosis
  2026	Gingival fibromatosis-hypertrichosis syndrome
  84132	Desmin-related myopathy with Mallory body-like inclusions
  77240	Primary lymphedema
  506	Leigh syndrome
  85317	X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome
  91	Aromatase deficiency
  568	Microphthalmia, Lenz type
  141171	Maxillary arteriovenous malformation
  2665	Congenital mesoblastic nephroma
  464306	DYRK1A-related intellectual disability syndrome
  3259	Syndactyly-polydactyly-ear lobe syndrome
  85173	IMAGe syndrome
  2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
  91500	Tubulointerstitial nephritis and uveitis syndrome
  565624	Combined oxidative phosphorylation defect type 39
  199285	Hereditary hypercarotenemia and vitamin A deficiency
  1968	Flat face-microstomia-ear anomaly syndrome
  65284	Biotin-thiamine-responsive basal ganglia disease
  399307	Idiopathic avascular necrosis
  300869	Splenic diffuse red pulp small B-cell lymphoma
  168947	Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement
  211067	Episodic ataxia type 5
  637	Full NF2-related schwannomatosis
  98851	Mast cell leukemia
  261229	14q11.2 microduplication syndrome
  221098	Glossopharyngeal neuralgia
  99013	Spastic paraplegia type 7
  977	Adrenomyodystrophy
  833	Encephalopathy due to sulfite oxidase deficiency
  773	Refsum disease
  497188	Diffuse intrinsic pontine glioma
  199306	Cleft lip/palate
  1054	Aneurysm of sinus of Valsalva
  799	Schizencephaly
  371007	Congenital muscular dystrophy with hyperlaxity
  3180	Spondylocamptodactyly syndrome
  555877	FLNA-related X-linked myxomatous valvular dysplasia
  637064	Isolated optic nerve aplasia
  1147	Sheldon-Hall syndrome
  2822	Autosomal recessive spastic paraplegia type 11
  141163	Glossopalatine ankylosis
  140922	Titin-related limb-girdle muscular dystrophy R10
  742	Prolidase deficiency
  741	Familial mitral valve prolapse
  438159	STAT3-related early-onset multisystem autoimmune disease
  2257	Primary pulmonary hypoplasia
  104010	Intestinal polyposis syndrome
  356947	3q26q27 microdeletion syndrome
  1947	Progressive epilepsy-intellectual disability syndrome, Finnish type
  443070	Hemicrania continua
  35122	Congenital sucrase-isomaltase deficiency
  666	Osteogenesis imperfecta
  90042	Primary familial polycythemia
  221078	Combined hyperactive dysfunction syndrome of the cranial nerves
  388	Hirschsprung disease
  2331	Kawasaki disease
  306776	Sporadic hyperekplexia
  982	Pulmonary valve agenesis
  1390	Night blindness-skeletal anomalies-dysmorphism syndrome
  370097	Oculocutaneous albinism type 6
  95462	Accessory tricuspid valve tissue
  590	Congenital myasthenic syndrome
  75382	Oguchi disease
  457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
  2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
  98964	Lattice corneal dystrophy type I
  557	Non-syndromic anorectal malformation
  164736	Familial advanced sleep-phase syndrome
  544469	PRUNE1-related neurological syndrome
  96178	Ring chromosome 16 syndrome
  257	Epidermolysis bullosa simplex with muscular dystrophy
  44890	Gastrointestinal stromal tumor
  2593	Tubular aggregate myopathy
  500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom
  1146	Distal arthrogryposis type 1
  69125	Anonychia with flexural pigmentation
  90301	Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome
  411602	Hereditary late-onset Parkinson disease
  401945	Moyamoya disease with early-onset achalasia
  3473	Zimmermann-Laband syndrome
  300512	Onychomatricoma
  116	Beckwith-Wiedemann syndrome
  75249	Familial isolated restrictive cardiomyopathy
  209964	Solitary rectal ulcer syndrome
  436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
  213630	Primitive neuroectodermal tumor of the corpus uteri
  96145	Distal deletion 4q
  35686	Serpiginous choroiditis
  157941	Huntington disease-like 1
  60040	Megalencephaly-capillary malformation-polymicrogyria syndrome
  85287	X-linked intellectual disability, Siderius type
  582	Mucopolysaccharidosis type 4
  449395	IgG4-related kidney disease
  251287	Benign concentric annular macular dystrophy
  1377	Cataract-microcornea syndrome
  275761	Lysosomal acid lipase deficiency
  70594	Dopa-responsive dystonia due to sepiapterin reductase deficiency
  757	Pseudohypoaldosteronism type 2
  167635	Scleromyxedema
  230	Dopamine beta-hydroxylase deficiency
  2743	Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome
  101028	Transaldolase deficiency
  139417	Acute transverse myelitis
  731	Autosomal recessive polycystic kidney disease
  79153	Idiopathic trachyonychia
  715	Glycogen storage disease due to muscle phosphorylase kinase deficiency
  263482	Spondyloepiphyseal dysplasia, Maroteaux type
  158032	Hemophagocytic syndrome
  289176	Autosomal recessive hypophosphatemic rickets
  70587	Infant acute respiratory distress syndrome
  300552	Follicular cholangitis and pancreatitis
  220386	Semilobar holoprosencephaly
  343	Hyperimmunoglobulinemia D with periodic fever
  71526	Obesity due to pro-opiomelanocortin deficiency
  251636	Ependymoma
  99930	Secondary pulmonary hemosiderosis
  990	Agnathia-holoprosencephaly-situs inversus syndrome
  1695	Non-distal duplication 10q
  2215	Multiple pterygium-malignant hyperthermia syndrome
  3434	MMEP syndrome
  447760	Autosomal recessive spastic paraplegia type 9B
  1264	Tricho-retino-dento-digital syndrome
  335	Congenital fibrinogen deficiency
  293825	Congenital dyserythropoietic anemia type IV
  3047	Blepharophimosis-intellectual disability syndrome, SBBYS type
  328	Congenital factor X deficiency
  85188	Metaphyseal dysplasia, Braun-Tinschert type
  90281	Discoid lupus erythematosus
  972	Hereditary continuous muscle fiber activity
  86875	Adult T-cell leukemia/lymphoma
  99102	Ectasia of the left atrial appendage
  90395	Papular mucinosis of infancy
  254688	Complete hydatidiform mole
  65720	Arthrogryposis-severe scoliosis syndrome
  2956	Acrodysplasia scoliosis
  370943	Autism spectrum disorder-epilepsy-arthrogryposis syndrome
  213610	Carcinosarcoma of the corpus uteri
  40923	Eales disease
  812	Sialidosis type 1
  79161	Disorder of carbohydrate metabolism
  3198	Stiff person spectrum disorder
  572	Immunodeficiency by defective expression of MHC class II
  981	Internal carotid absence
  746	Mitochondrial trifunctional protein deficiency
  210144	Lethal polymalformative syndrome, Boissel type
  569816	CELSR1-related late-onset primary lymphedema
  228140	Idiopathic ventricular fibrillation, non Brugada type
  2318	Joubert syndrome with oculorenal defect
  199343	EAST syndrome
  83420	Proximal spinal muscular atrophy type 4
  327	Congenital factor VII deficiency
  98970	Fleck corneal dystrophy
  251523	Hyperzincemia and hypercalprotectinemia
  86918	Diffuse palmoplantar keratoderma-acrocyanosis syndrome
  401820	Autosomal recessive spastic paraplegia type 67
  353217	Epileptic encephalopathy with global cerebral demyelination
  98841	Anaplastic large cell lymphoma
  210122	Congenital alveolar capillary dysplasia
  217407	Hereditary hypotrichosis with recurrent skin vesicles
  99001	Butterfly-shaped pigment dystrophy
  1742	Trisomy 5p
  82	Hereditary thrombophilia due to congenital antithrombin deficiency
  2560	Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
  79278	Autosomal erythropoietic protoporphyria
  519398	Isolated foveal hypoplasia
  35807	Malignant germ cell tumor of ovary
  85197	Genochondromatosis type 1
  79096	Pyridoxal phosphate-responsive seizures
  86846	Therapy related acute myeloid leukemia and myelodysplastic syndrome
  85282	MEHMO syndrome
  2373	Congenital laryngomalacia
  83315	Murine typhus
  49041	IgG4-related retroperitoneal fibrosis
  302	Epidermodysplasia verruciformis
  563666	Serous cystadenoma of childhood
  2957	Guttmacher syndrome
  263508	COG1-CDG
  254698	Epithelioid trophoblastic tumor
  252206	Melanoma and neural system tumor syndrome
  295034	Congenital knee dislocation
  480851	Hereditary thrombocytopenia with early-onset myelofibrosis
  199	Cornelia de Lange syndrome
  1541	Craniosynostosis, Boston type
  268363	Open iniencephaly
  922	Familial nasal acilia
  2699	Median nodule of the upper lip
  251937	Gangliocytoma
  451607	Cutaneous pseudolymphoma
  66662	Extracutaneous mastocytoma
  91495	Persistent hyperplastic primary vitreous
  35858	Imerslund-Gräsbeck syndrome
  435845	Lethal neonatal spasticity-epileptic encephalopathy syndrome
  77258	Trichorhinophalangeal syndrome type 1
  99745	Typhoid
  85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
  314679	Cerebrofacioarticular syndrome
  36355	Bleeding disorder due to P2Y12 defect
  279928	Paraneoplastic uveitis
  2854	Fuhrmann syndrome
  2967	Transcobalamin I deficiency
  213600	Adenosarcoma of the corpus uteri
  3380	Trisomy 18
  439218	KCNQ2-related epileptic encephalopathy
  30	Hereditary orotic aciduria
  64747	X-linked Charcot-Marie-Tooth disease
  525731	Pediatric-onset Graves disease
  91347	TSH-secreting pituitary adenoma
  31150	Tangier disease
  96179	Maternal uniparental disomy of chromosome 2
  1252	Blepharonasofacial malformation syndrome
  168443	Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome
  99063	Shone complex
  250977	AICA-ribosiduria
  309108	Pancreatic colipase deficiency
  79233	Hypoxanthine guanine phosphoribosyltransferase partial deficiency
  231556	Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
  238557	Chuvash erythrocytosis
  464370	Neonatal alloimmune neutropenia
  2349	Muscular pseudohypertrophy-hypothyroidism syndrome
  2291	Congenital velopharyngeal incompetence
  733	Familial adenomatous polyposis
  86864	Heavy chain disease
  2908	Kindler epidermolysis bullosa
  3016	Absent radius-anogenital anomalies syndrome
  424053	Mucinous cystadenocarcinoma of the pancreas
  329308	Fatty acid hydroxylase-associated neurodegeneration
  448	Hemophilia
  916	Aase-Smith syndrome
  83	Antley-Bixler syndrome
  90349	Autosomal recessive cutis laxa type 1
  370015	Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
  90033	Autoimmune hemolytic anemia, warm type
  2924	Isolated polycystic liver disease
  284247	Familial retinal arterial macroaneurysm
  93267	Cloverleaf skull-multiple congenital anomalies syndrome
  199302	Isolated cleft lip
  3312	Thalidomide embryopathy
  324422	ALG13-CDG
  369999	Diffuse palmoplantar keratoderma with painful fissures
  154	Familial isolated dilated cardiomyopathy
  2035	Lymphatic filariasis
  536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
  289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
  363618	LMNA-related cardiocutaneous progeria syndrome
  1923	Methimazole embryofetopathy
  2202	Palmoplantar keratoderma-deafness syndrome
  48652	Monosomy 22q13.3
  264688	Congenital chylothorax
  96185	Maternal uniparental disomy of chromosome 16
  75373	Progressive bifocal chorioretinal atrophy
  369852	Congenital neutropenia-myelofibrosis-nephromegaly syndrome
  100077	Jejunal neuroendocrine tumor
  99948	Charcot-Marie-Tooth disease type 4A
  2363	Lacrimoauriculodentodigital syndrome
  3324	Familial thrombomodulin anomalies
  1398	Isolated cerebellar agenesis
  57145	SUNCT syndrome
  85200	Ischiovertebral syndrome
  199337	Pancreatic insufficiency-anemia-hyperostosis syndrome
  468678	White-Sutton syndrome
  281090	Syndromic recessive X-linked ichthyosis
  529864	Secondary erythromelalgia
  268813	Myelocystocele
  139450	Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
  431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency
  99725	Pituitary gigantism
  95512	Adenohypophysitis
  476102	Hereditary pediatric Behçet-like disease
  209916	Extraskeletal myxoid chondrosarcoma
  261295	20p12.3 microdeletion syndrome
  320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
  796	Sandhoff disease
  254379	Linear lichen planus
  276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency
  250994	1q21.1 microduplication syndrome
  289891	Hypermethioninemia due to glycine N-methyltransferase deficiency
  100084	Middle ear neuroendocrine tumor
  199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy
  145	Hereditary breast and/or ovarian cancer syndrome
  445110	Limb-girdle muscular dystrophy due to POMK deficiency
  280821	Communicating congenital bronchopulmonary-foregut malformation
  279882	Spasmus nutans
  2732	Olivopontocerebellar atrophy-deafness syndrome
  93173	Renal dysplasia, bilateral
  306553	Myospherulosis
  91416	Isolated congenital alacrima
  2969	Proteus-like syndrome
  2324	Osteopenia-intellectual disability-sparse hair syndrome
  289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0
  250972	Polymicrogyria with optic nerve hypoplasia
  294977	Congenital absence of thigh and lower leg with foot present
  155878	Submucosal cleft palate
  46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
  275777	Heritable pulmonary arterial hypertension
  30391	Isolated biliary atresia
  424099	Colobomatous microphthalmia-rhizomelic dysplasia syndrome
  183707	Neutrophil immunodeficiency syndrome
  886	Usher syndrome
  213792	Adenosarcoma of the cervix uteri
  466729	Familial patent arterial duct
  399081	KLHL9-related early-onset distal myopathy
  101085	Charcot-Marie-Tooth disease type 1F
  166029	Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia
  480553	Aneurysmal bone cyst
  481	Kennedy disease
  210110	Intermediate osteopetrosis
  137577	Neonatal hypoxic and ischemic brain injury
  96187	Maternal uniparental disomy of chromosome 21
  99003	Multifocal pattern dystrophy simulating fundus flavimaculatus
  83619	Macrostomia-preauricular tags-external ophthalmoplegia syndrome
  512	Metachromatic leukodystrophy
  228123	Coccidioidomycosis
  79432	Oculocutaneous albinism type 2
  100047	Esophageal duplication cyst
  97598	Congenital renal artery stenosis
  141179	Non-involuting congenital hemangioma
  168615	Hereditary persistence of alpha-fetoprotein
  319480	Acute myeloid leukemia with CEBPA somatic mutations
  67047	3-methylglutaconic aciduria type 3
  95720	Thyroid hypoplasia
  213787	Carcinosarcoma of the cervix uteri
  329457	Distal arthrogryposis type 5D
  51608	Generalized arterial calcification of infancy
  93932	FG syndrome type 1
  99978	Klatskin tumor
  268114	RAS-associated autoimmune leukoproliferative disease
  352712	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
  206484	Gonadoblastoma
  2658	Lenz-Majewski hyperostotic dwarfism
  268173	Intermittent maple syrup urine disease
  99908	Pigeon-breeder lung disease
  1467	Cogan syndrome
  289553	Dysmorphism-conductive hearing loss-heart defect syndrome
  1717	Distal duplication 19q
  411788	Familial isolated trichomegaly
  1920	Toluene embryopathy
  168569	H syndrome
  2020	Congenital fiber-type disproportion myopathy
  268820	Cranial meningocele
  314759	Mixed functioning pituitary adenoma
  449266	Pleural empyema
  2663	Nathalie syndrome
  2157	Histidinemia
  43116	Serotonin syndrome
  85277	X-linked intellectual disability, Cantagrel type
  280628	Familial progressive hyper- and hypopigmentation
  357058	Autosomal recessive cutis laxa type 2A
  355	Gaucher disease
  2430	Congenital macroglossia
  98958	Climatic droplet keratopathy
  100984	Autosomal dominant spastic paraplegia type 3
  309144	Gangliosidosis
  83471	T-cell immunodeficiency with thymic aplasia
  79078	IgG4-related dacryoadenitis and sialadenitis
  251383	CK syndrome
  35701	3-hydroxy-3-methylglutaryl-CoA synthase deficiency
  402026	Acute myeloid leukemia with NPM1 somatic mutations
  206554	Fukutin-related limb-girdle muscular dystrophy R13
  2880	Phosphoenolpyruvate carboxykinase deficiency
  91127	Adenovirus infection in immunocompromised patients
  143	Parathyroid carcinoma
  101084	Charcot-Marie-Tooth disease type 1D
  300857	T-cell/histiocyte rich large B cell lymphoma
  199299	Late-onset isolated ACTH deficiency
  137867	Madras motor neuron disease
  54368	Sarcocystosis
  35878	Hyperinsulinism-hyperammonemia syndrome
  1969	Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
  2484	Melnick-Needles syndrome
  213833	Glassy cell carcinoma of the cervix uteri
  206586	Neurolymphomatosis
  480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
  334	Familial atrial fibrillation
  955	Hajdu-Cheney syndrome
  391366	Growth retardation-mild developmental delay-chronic hepatitis syndrome
  98946	Coloboma of eyelid
  35173	X-linked dominant chondrodysplasia punctata
  435651	CIDEC-related familial partial lipodystrophy
  617	Congenital primary megaureter
  468661	Autosomal recessive spastic paraplegia type 74
  244242	HELLP syndrome
  1200	Burn-McKeown syndrome
  280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
  36273	Gastric linitis plastica
  31205	Rat-bite fever
  97292	Cardiogenic shock
  329481	Lipoprotein glomerulopathy
  1393	Cerebrocostomandibular syndrome
  98798	Isochromosomy Yq
  1450	Ring chromosome 8 syndrome
  99429	Complete androgen insensitivity syndrome
  541443	Anomalous aortic origin of the left coronary artery
  2528	Microcephaly-microcornea syndrome, Seemanova type
  83312	Rickettsialpox
  662	Yellow nail syndrome
  2396	Encephalocraniocutaneous lipomatosis
  2166	Holoprosencephaly-postaxial polydactyly syndrome
  50251	Pleural mesothelioma
  88618	S-adenosylhomocysteine hydrolase deficiency
  2398	Multiple symmetric lipomatosis
  1798	Dysostosis, Stanescu type
  79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form
  99075	Encircling double aortic arch
  138	CHARGE syndrome
  99056	Parachute tricuspid valve
  228174	Autosomal dominant Charcot-Marie-Tooth disease type 2N
  2680	Hypomyelination neuropathy-arthrogryposis syndrome
  206976	Periodic paralysis
  276556	Hyperinsulinism due to UCP2 deficiency
  679	Malignant atrophic papulosis
  141	Canavan disease
  2024	Hereditary gingival fibromatosis
  98947	Coloboma of optic disc
  209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
  319223	Argentine hemorrhagic fever
  1524	Craniomicromelic syndrome
  94124	Spinocerebellar ataxia with axonal neuropathy type 1
  500095	Tall stature-intellectual disability-renal anomalies syndrome
  247834	Occult macular dystrophy
  600	Vocal cord and pharyngeal distal myopathy
  139471	Microphthalmia with brain and digit anomalies
  502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
  324569	Pontocerebellar hypoplasia type 8
  435804	Short stature-advanced bone age-early-onset osteoarthritis syndrome
  100083	Laryngeal neuroendocrine tumor
  294986	Apodia
  96074	Distal duplication 7p
  79490	Microcystic lymphatic malformation
  73230	Ossification anomalies-psychomotor developmental delay syndrome
  2912	Poliomyelitis
  200418	Immunodeficiency with factor I anomaly
  3226	Deafness-lymphedema-leukemia syndrome
  29072	Hereditary pheochromocytoma-paraganglioma
  3387	Isolated anterior cervical hypertrichosis
  352582	Familial infantile myoclonic epilepsy
  2295	Familial articular hypermobility syndrome
  2947	Triphalangeal thumbs-brachyectrodactyly syndrome
  90354	Brittle cornea syndrome
  102381	Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor
  100988	Autosomal dominant spastic paraplegia type 6
  412066	PRKAR1B-related neurodegenerative dementia with intermediate filaments
  721	Gray platelet syndrome
  99756	Alveolar rhabdomyosarcoma
  97297	Bohring-Opitz syndrome
  137914	Choanal atresia
  1799	Familial developmental dysphasia
  97566	Non-amyloid fibrillary glomerulopathy
  324977	Proteasome-associated autoinflammatory syndrome
  530792	RELA fusion-positive ependymoma
  57782	Mazabraud syndrome
  182050	MYH9-related disease
  83001	Urogenital tract malformation
  86903	Dendritic cell sarcoma not otherwise specified
  100985	Autosomal dominant spastic paraplegia type 4
  100013	Lissencephaly with cerebellar hypoplasia type C
  168598	Methionine adenosyltransferase I/III deficiency
  2812	Parana hard skin syndrome
  178029	Central diabetes insipidus
  420179	Malan overgrowth syndrome
  329813	Mosaic genome-wide paternal uniparental disomy
  251877	Ganglioneuroblastoma
  36382	Familial cervical artery dissection
  540	Familial hemophagocytic lymphohistiocytosis
  404493	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
  363969	Autosomal recessive cerebral atrophy
  139447	Progressive cavitating leukoencephalopathy
  252031	Diffuse leptomeningeal melanocytosis
  64734	Iridocorneal endothelial syndrome
  2083	Prominent glabella-microcephaly-hypogenitalism syndrome
  79238	Galactose epimerase deficiency
  289902	3-methylglutaconic aciduria
  391348	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
  3033	Renal tubular dysgenesis
  268139	Intraocular medulloepithelioma
  3216	Conductive deafness-malformed external ear syndrome
  99938	Autosomal dominant Charcot-Marie-Tooth disease type 2D
  398124	Neonatal lupus erythematosus
  528091	Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
  493	Familial keratoacanthoma
  456318	Hereditary sensory neuropathy-deafness-dementia syndrome
  2786	Osteoporosis-oculocutaneous hypopigmentation syndrome
  254920	Combined oxidative phosphorylation defect type 2
  3412	VACTERL with hydrocephalus
  2198	Palmoplantar keratoderma-esophageal carcinoma syndrome
  88660	Hypertension due to gain-of-function mutations in the mineralocorticoid receptor
  2514	Autosomal dominant primary microcephaly
  100044	Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
  596448	IgG4-related systemic disease
  952	Acrofacial dysostosis, Weyers type
  398971	Clear cell adenocarcinoma of the ovary
  534	Oculocerebrorenal syndrome of Lowe
  65681	Vaginal atresia
  1914	Vitamin K antagonist embryofetopathy
  99806	Oculootodental syndrome
  2866	Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
  622014	Autoimmune encephalitis
  254424	Annular lichen planus
  70591	Chronic thromboembolic pulmonary hypertension
  485350	CLCN4-related X-linked intellectual disability syndrome
  293621	X-linked endothelial corneal dystrophy
  231178	Usher syndrome type 2
  521438	Congenital vertebral-cardiac-renal anomalies syndrome
  254693	Partial hydatidiform mole
  59315	Rhombencephalosynapsis
  352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
  99701	Mesial temporal lobe epilepsy with hippocampal sclerosis
  1955	Spinocerebellar ataxia type 34
  97353	Dementia pugilistica
  168782	Childhood disintegrative disorder
  139525	Distal hereditary motor neuropathy type 2
  300305	11p15.4 microduplication syndrome
  1464	Univentricular heart
  168621	Dysplasia of head of femur, Meyer type
  85336	X-linked neurodegenerative syndrome, Hamel type
  228423	Monocytopenia with susceptibility to infections
  11	Pentasomy X
  434179	Orofaciodigital syndrome type 14
  99915	Malignant granulosa cell tumor of the ovary
  96071	Distal duplication 3p
  100021	Primary plasmacytoma of the bone
  3011	Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
  33	Isovaleric acidemia
  521258	Xq25 microduplication syndrome
  166113	Bazex syndrome
  263543	Generalized peeling skin syndrome
  289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
  276429	Hypnic headache
  309271	Metachromatic leukodystrophy, adult form
  85327	X-linked intellectual disability-acromegaly-hyperactivity syndrome
  98934	Huntington disease-like 2
  100031	Hypoplastic amelogenesis imperfecta
  83451	Florid cemento-osseous dysplasia
  98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
  330012	High altitude pulmonary edema
  448237	Zika virus disease
  457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  454742	Variably protease-sensitive prionopathy
  800	Schwartz-Jampel syndrome
  261211	16p11.2p12.2 microdeletion syndrome
  402014	Acute myeloid leukemia with t(6;9)(p23;q34)
  166299	Benign partial epilepsy of infancy with complex partial seizures
  2871	Pfeiffer-Palm-Teller syndrome
  171220	Rectal duplication
  73423	Acute ackee fruit intoxication
  64280	Childhood absence epilepsy
  157962	Oculoauricular syndrome, Schorderet type
  206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
  583595	Serine biosynthesis pathway deficiency, infantile/juvenile form
  397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy
  96106	Distal duplication 16q
  99045	Double outlet right ventricle with subpulmonary ventricular septal defect
  574957	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency
  99176	Congenital eyelid retraction
  370127	Medich giant platelet syndrome
  280142	Severe combined immunodeficiency due to LCK deficiency
  189427	Cushing syndrome due to bilateral macronodular adrenocortical disease
  504530	Combined immunodeficiency due to Moesin deficiency
  88917	X-linked Alport syndrome
  2715	Severe oculo-renal-cerebellar syndrome
  2608	N syndrome
  157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
  75565	Tropical endomyocardial fibrosis
  3451	Infantile spasms syndrome
  169100	Immunodeficiency due to CD25 deficiency
  64752	Hereditary sensory and autonomic neuropathy type 5
  100093	Carcinoid syndrome
  1180	Ataxia-hypogonadism-choroidal dystrophy syndrome
  329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome
  163971	X-linked intellectual disability, Cilliers type
  98977	Juvenile glaucoma
  436	Hypophosphatasia
  90036	Mixed-type autoimmune hemolytic anemia
  2091	Multinodular goiter-cystic kidney-polydactyly syndrome
  46348	Paroxysmal extreme pain disorder
  466	Fatal familial insomnia
  33573	Gamma-glutamyl transpeptidase deficiency
  1247	Schistosomiasis
  488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W
  2850	Alopecia-intellectual disability syndrome
  281127	Acral self-healing collodion baby
  100003	Intraneural perineurioma
  279914	Intermediate uveitis
  1563	Dahlberg-Borer-Newcomer syndrome
  891	Familial exudative vitreoretinopathy
  404511	Clear cell papillary renal cell carcinoma
  2139	Hernández-Aguirre Negrete syndrome
  100086	Gallbladder neuroendocrine tumor
  180086	Didelphys uterus
  90120	Hereditary motor and sensory neuropathy type 6
  199329	Congenital myopathy, Paradas type
  1810	Autosomal dominant hypohidrotic ectodermal dysplasia
  251663	Anaplastic oligoastrocytoma
  93384	Brachydactyly type C
  457	Harlequin ichthyosis
  1571	Knobloch syndrome
  98673	Autosomal dominant optic atrophy, classic form
  300557	Carcinoma of the ampulla of Vater
  115	Congenital contractural arachnodactyly
  440727	Combined hamartoma of the retina and retinal pigment epithelium
  294988	Congenital hypoplasia of thumb
  714	Hemolytic anemia due to diphosphoglycerate mutase deficiency
  90081	AIDS wasting syndrome
  264450	Trisomy 8p
  35737	Morning glory disc anomaly
  65287	Beta-ureidopropionase deficiency
  424027	Progressive myoclonic epilepsy type 8
  228396	Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
  293864	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
  73273	Growth delay due to insulin-like growth factor I resistance
  213726	Serous carcinoma of the corpus uteri
  488586	Congenital amyoplasia
  79332	B4GALT1-CDG
  528105	Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome
  2058	Fryns-Smeets-Thiry syndrome
  300547	Autosomal recessive infantile hypercalcemia
  592564	GNAO1-related developmental delay-seizures-movement disorder spectrum
  2451	Mucocutaneous venous malformations
  352649	Brain dopamine-serotonin vesicular transport disease
  397692	Hereditary isolated aplastic anemia
  79492	Pili gemini
  585	Multiple sulfatase deficiency
  213531	Metaplastic carcinoma of the breast
  251061	7q31 microdeletion syndrome
  231169	Usher syndrome type 1
  222	Erosive pustular dermatosis of the scalp
  391384	Familial episodic pain syndrome
  227990	Autoimmune polyendocrinopathy type 4
  289666	Plasmablastic lymphoma
  40366	Acitretin/etretinate embryopathy
  254478	Lichen planus pemphigoides
  676	Hereditary chronic pancreatitis
  358	Gitelman syndrome
  52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  399329	Epiphysiolysis of the hip
  88	Idiopathic aplastic anemia
  93964	Blepharospasm-oromandibular dystonia syndrome
  2875	Phakomatosis pigmentovascularis
  2038	Pulmonary arteriovenous malformation
  713	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
  86309	DPAGT1-CDG
  90658	Charcot-Marie-Tooth disease type 1E
  420699	Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
  228290	White fibrous papulosis of the neck
  86880	Enteropathy-associated T-cell lymphoma
  1228	Banki syndrome
  391372	FOXP1 Syndrome
  93952	X-linked intellectual disability, Hedera type
  667	Autosomal recessive malignant osteopetrosis
  79318	PMM2-CDG
  1083	Microlissencephaly
  158022	Progressive nodular histiocytosis
  2382	Lennox-Gastaut syndrome
  357237	Severe combined immunodeficiency due to CARD11 deficiency
  251510	46,XY partial gonadal dysgenesis
  1670	Chronic diarrhea with villous atrophy
  93323	Fibular hemimelia
  182067	Glial tumor
  97238	Rippling muscle disease
  522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
  510	Lesch-Nyhan syndrome
  3000	Familial peripheral male-limited precocious puberty
  261243	16p13.11 microduplication syndrome
  1053	Vein of Galen aneurysmal malformation
  141148	Hemifacial myohyperplasia
  141258	Tessier number 4 facial cleft
  96121	7q11.23 microduplication syndrome
  445062	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
  1272	Aymé-Gripp syndrome
  86879	Extranodal nasal NK/T cell lymphoma
  280671	Megaconial congenital muscular dystrophy
  3044	Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
  105	Atresia of urethra
  2097	Grant syndrome
  502499	Erythema multiforme major
  1952	Epiphyseal stippling-osteoclastic hyperplasia syndrome
  141184	Rapidly involuting congenital hemangioma
  363741	Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
  85319	X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome
  1482	Gonococcal conjunctivitis
  284388	Reversible cerebral vasoconstriction syndrome
  314637	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  64745	Pruritic urticarial papules and plaques of pregnancy
  435934	COG2-CDG
  52994	Orbital leiomyoma
  170	Woolly hair
  91498	Familial congenital palsy of trochlear nerve
  2481	Neurocutaneous melanocytosis
  592570	TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome
  231031	Erythema palmare hereditarium
  221109	Cranial neuralgia
  166073	Pontocerebellar hypoplasia type 6
  251855	Anaplastic/large cell medulloblastoma
  99169	Epiblepharon
  791	Retinitis pigmentosa
  2078	Geroderma osteodysplastica
  79129	Trichodysplasia-amelogenesis imperfecta syndrome
  834	Free sialic acid storage disease
  2789	Lateral meningocele syndrome
  435628	Keppen-Lubinsky syndrome
  357329	Combined immunodeficiency due to IL21R deficiency
  166063	Pontocerebellar hypoplasia type 4
  83330	Proximal spinal muscular atrophy type 1
  1775	Dyskeratosis congenita
  3369	Trigonocephaly-short stature-developmental delay syndrome
  309334	Salla disease
  424046	Acinar cell carcinoma of pancreas
  502	Trichorhinophalangeal syndrome type 2
  101102	Charcot-Marie-Tooth disease type 2H
  459033	Ataxia-oculomotor apraxia type 4
  468635	Cryptogenic multifocal ulcerous stenosing enteritis
  2351	Kousseff syndrome
  220460	Attenuated familial adenomatous polyposis
  397695	3q27.3 microdeletion syndrome
  263455	Congenital hyperinsulinism due to HNF4A deficiency
  397	Giant cell arteritis
  309015	Familial lipoprotein lipase deficiency
  100989	Autosomal dominant spastic paraplegia type 8
  69078	Liposarcoma
  52759	Vasculitis
  69083	Ectodermal dysplasia with natal teeth, Turnpenny type
  70592	Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
  254857	Lethal infantile mitochondrial myopathy
  294963	Popliteal pterygium syndrome
  169349	Immuno-osseous dysplasia
  178506	Brain calcification, Rajab type
  79134	DEND syndrome
  562	McCune-Albright syndrome
  314041	Marfanoid habitus-inguinal hernia-advanced bone age syndrome
  1313	Infantile choroidocerebral calcification syndrome
  178396	Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
  213828	Adenoid basal carcinoma of the cervix uteri
  99889	Cushing syndrome due to ectopic ACTH secretion
  252025	Tumor of meninges
  1517	Cantú syndrome
  238670	Isolated thyrotropin-releasing hormone deficiency
  220402	Limited cutaneous systemic sclerosis
  3235	Progressive deafness with stapes fixation
  99927	Hydatidiform mole
  178528	Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma
  79397	Epidermolysis bullosa simplex with mottled pigmentation
  2211	Hypertelorism-hypospadias-polysyndactyly syndrome
  3163	SHORT syndrome
  199282	Harlequin syndrome
  178475	Wound botulism
  3266	Humero-radio-ulnar synostosis
  563	Peripartum cardiomyopathy
  424107	Congenital myopathy with myasthenic-like onset
  980	Absence of the pulmonary artery
  84142	Isaacs syndrome
  2637	Microcephalic osteodysplastic primordial dwarfism type II
  424970	Undifferentiated carcinoma of liver and intrahepatic biliary tract
  101112	Spinocerebellar ataxia type 26
  2841	Familial benign chronic pemphigus
  2483	Melkersson-Rosenthal syndrome
  457050	Autosomal dominant mitochondrial myopathy with exercise intolerance
  49382	Achromatopsia
  50809	Talo-patello-scaphoid osteolysis
  999	Ermine phenotype
  324601	X-linked cleft palate and ankyloglossia
  2491	Müllerian duct anomalies-limb anomalies syndrome
  313800	Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome
  2325	Epidermolysis bullosa simplex with anodontia/hypodontia
  635	Neuroblastoma
  477774	Combined oxidative phosphorylation defect type 27
  208513	Spinocerebellar ataxia type 29
  307766	Curly hair-acral keratoderma-caries syndrome
  998	Albinism-deafness syndrome
  85292	X-linked spinocerebellar ataxia type 4
  65798	Goodman syndrome
  284454	Acute zonal occult outer retinopathy
  498481	LRP5-related primary osteoporosis
  447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
  95474	Double-orifice mitral valve
  289465	Isolated congenital adermatoglyphia
  295000	Constriction rings syndrome
  90393	Nodular lichen myxedematosus
  3301	Tetraamelia-multiple malformations syndrome
  99920	Acute graft versus host disease
  98619	Rare isolated myopia
  3093	Congenital aortic valve stenosis
  158687	Lethal acantholytic erosive disorder
  141000	Orofaciodigital syndrome type 11
  90642	Syndromic genetic deafness
  94093	Neuroleptic malignant syndrome
  137810	Nodular cutaneous amyloidosis
  139423	Idiopathic acute transverse myelitis
  289513	12q15q21.1 microdeletion syndrome
  295018	Congenital pseudoarthrosis of the tibia
  251883	Medulloepithelioma of the central nervous system
  466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z
  638	Neurofibromatosis-Noonan syndrome
  589542	Myeloid/lymphoid neoplasm associated with JAK2 rearrangement
  178461	X-linked myopathy with postural muscle atrophy
  32	Glutathione synthetase deficiency
  99945	Autosomal dominant Charcot-Marie-Tooth disease type 2L
  562528	Congenital limbs-face contractures-hypotonia-developmental delay syndrome
  929	Achalasia-microcephaly syndrome
  3168	Sillence syndrome
  90039	Hemoglobin D disease
  2558	Mikati-Najjar-Sahli syndrome
  2832	Short tarsus-absence of lower eyelashes syndrome
  2013	Cleft palate-large ears-small head syndrome
  352641	Autosomal recessive cerebellar ataxia with late-onset spasticity
  494344	RERE-related neurodevelopmental syndrome
  1708	Mosaic trisomy 16
  99954	Charcot-Marie-Tooth disease type 4H
  206443	Late-infantile/juvenile Krabbe disease
  79273	Hereditary coproporphyria
  91546	Lyme disease
  96168	Monosomy 13q34
  447757	Autosomal dominant spastic paraplegia type 9B
  168454	Spondyloepimetaphyseal dysplasia, Geneviève type
  552	MODY
  492	Proliferating trichilemmal cyst
  2686	Cyclic neutropenia
  83595	Colorado tick fever
  708	Peters anomaly
  300313	Congenital cataract-hearing loss-severe developmental delay syndrome
  314697	Acquired porencephaly
  276193	Spinocerebellar ataxia type 35
  98945	Coloboma of macula
  235	Dubowitz syndrome
  589527	Spinocerebellar ataxia type 45
  169	Ringed hair disease
  2916	Postaxial polydactyly-dental and vertebral anomalies syndrome
  79258	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
  93347	Anauxetic dysplasia
  558411	Idiopathic gastroparesis
  64748	Dejerine-Sottas syndrome
  1186	Infantile-onset spinocerebellar ataxia
  99113	Subaortic course of innominate vein
  199293	Congenital microgastria
  267	Calpain-3-related limb-girdle muscular dystrophy R1
  91132	Ichthyosis-hypotrichosis syndrome
  314051	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
  166430	Micturation-induced seizures
  85284	BRESEK syndrome
  86855	Plasmacytoma
  404546	DITRA
  137605	Legius syndrome
  93357	SPONASTRIME dysplasia
  1120	Lung agenesis-heart defect-thumb anomalies syndrome
  33543	Kleine-Levin syndrome
  444051	20q11.2 microdeletion syndrome
  2050	Cole-Carpenter syndrome
  85286	X-linked intellectual disability, Shashi type
  96063	Mosaic trisomy 10
  319640	Retinal macular dystrophy type 2
  1350	Heart-hand syndrome type 2
  1505	Short rib-polydactyly syndrome
  48104	Pyoderma gangrenosum
  2189	Hydrolethalus
  785	Estrogen resistance syndrome
  313920	Epstein-Barr virus-associated gastric carcinoma
  1808	Hidrotic ectodermal dysplasia, Christianson-Fourie type
  407	Glycine encephalopathy
  480506	Primary intrahepatic lithiasis
  1331	Familial prostate cancer
  263347	MRCS syndrome
  464343	Catastrophic antiphospholipid syndrome
  137678	Spondyloepiphyseal dysplasia with metatarsal shortening
  3161	Congenital pulmonary sequestration
  404499	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency
  53721	Spinal arteriovenous metameric syndrome
  185	Scimitar syndrome
  61	Alpha-mannosidosis
  98852	Desquamative interstitial pneumonia
  88635	Vacuolar myopathy with sarcoplasmic reticulum protein aggregates
  424975	Squamous cell carcinoma of liver and intrahepatic biliary tract
  97287	Bronchial neuroendocrine tumor
  98918	Acute motor axonal neuropathy
  363409	Fetal akinesia-cerebral and retinal hemorrhage syndrome
  1237	Beemer-Ertbruggen syndrome
  90342	Xeroderma pigmentosum variant
  102013	Complex hereditary spastic paraplegia
  464760	Familial cavitary optic disc anomaly
  69076	Familial renal glucosuria
  468620	Intellectual disability-epilepsy-extrapyramidal syndrome
  440427	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  85447	ATTRV30M amyloidosis
  280	Wolf-Hirschhorn syndrome
  99000	Adult-onset foveomacular vitelliform dystrophy
  94088	Hereditary renal hypouricemia
  411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
  2137	Autoimmune hepatitis
  250923	Isolated aniridia
  2229	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
  1606	1p36 deletion syndrome
  79124	Hepatic veno-occlusive disease-immunodeficiency syndrome
  2114	Hip dysplasia, Beukes type
  209370	Severe neonatal-onset encephalopathy with microcephaly
  53540	Goldmann-Favre syndrome
  261265	17q12 microdeletion syndrome
  363727	X-linked dyserythropoietic anemia with abnormal platelets and neutropenia
  3317	Thoracolaryngopelvic dysplasia
  1118	Fibular aplasia-ectrodactyly syndrome
  45453	Incessant infant ventricular tachycardia
  2310	Absence deformity of leg-cataract syndrome
  79152	Disseminated superficial actinic porokeratosis
  100069	Semantic dementia
  90673	Hypothyroidism due to TSH receptor mutations
  295032	Isolated congenital radial head dislocation
  371364	Hypotonia-speech impairment-severe cognitive delay syndrome
  417	Neonatal severe primary hyperparathyroidism
  225	Maternally-inherited diabetes and deafness
  276148	Benign epithelial tumor of salivary glands
  391	Classic Hodgkin lymphoma
  320391	Autosomal recessive spastic paraplegia type 46
  56304	Atelosteogenesis type II
  2052	Fraser syndrome
  2337	Diffuse palmoplantar keratoderma, Bothnian type
  404466	Female infertility due to zona pellucida defect
  2847	Pericardial and diaphragmatic defect
  280763	Severe intellectual disability and progressive spastic paraplegia
  223	Nephrogenic diabetes insipidus
  564178	Primary hypomagnesemia-refractory seizures-intellectual disability syndrome
  231040	Familial generalized lentiginosis
  401810	Autosomal recessive spastic paraplegia type 64
  99642	Spondyloepimetaphyseal dysplasia, Handigodu type
  2410	Hypergonadotropic hypogonadism-cataract syndrome
  199251	Ledderhose disease
  369861	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
  1997	Blepharo-cheilo-odontic syndrome
  93571	Dense deposit disease
  763	Pycnodysostosis
  26137	Juvenile temporal arteritis
  897	Waardenburg-Shah syndrome
  419	Hyperprolinemia type 1
  1422	Chondrodysplasia-difference of sex development syndrome
  2978	Chronic intestinal pseudoobstruction
  887	VACTERL/VATER association
  166105	FASTKD2-related infantile mitochondrial encephalomyopathy
  2781	Osteopetrosis and related disorders
  71529	Obesity due to melanocortin 4 receptor deficiency
  141127	Congenital tracheal stenosis
  3006	Pyridoxine-dependent epilepsy
  251274	Familial hyperaldosteronism type III
  3021	RAPADILINO syndrome
  2798	Pachygyria-intellectual disability-epilepsy syndrome
  69737	Bosley-Salih-Alorainy syndrome
  79395	Keratoderma hereditarium mutilans with ichthyosis
  1416	Familial calcium pyrophosphate deposition
  79444	Pseudohypoparathyroidism type 1C
  83317	Scrub typhus
  99865	Spermatocytic seminoma
  2972	Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome
  1241	Bencze syndrome
  141077	Epignathus
  86819	Atrichia with papular lesions
  95	Friedreich ataxia
  293	Congenital herpes simplex virus infection
  1170	Autosomal recessive cerebelloparenchymal disorder type 3
  1275	Brachydactyly-elbow wrist dysplasia syndrome
  281122	Self-improving collodion baby
  536	Systemic lupus erythematosus
  444048	46,XX ovarian dysgenesis-short stature syndrome
  529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
  844	Lown-Ganong-Levine syndrome
  94147	Spinocerebellar ataxia type 7
  395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency
  276066	Bile acid CoA ligase deficiency and defective amidation
  141239	Median cleft of the upper lip and maxilla
  3341	Torticollis-keloids-cryptorchidism-renal dysplasia syndrome
  821	Sotos syndrome
  31154	Hypobetalipoproteinemia
  213812	Primitive neuroectodermal tumor of the cervix uteri
  247582	Citrin deficiency
  363746	Balint syndrome
  79500	DOORS syndrome
  171684	Idiopathic bilateral vestibulopathy
  98762	Spinocerebellar ataxia type 12
  27	Vitamin B12-unresponsive methylmalonic acidemia
  477749	Pontine autosomal dominant microangiopathy with leukoencephalopathy
  401785	Autosomal recessive spastic paraplegia type 62
  274	Bernard-Soulier syndrome
  352577	Bainbridge-Ropers syndrome
  912	Zellweger syndrome
  566	Congenital microcoria
  221142	Confetti-like macular atrophy
  95443	Mesocardia
  36	Acrocallosal syndrome
  363694	Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
  228312	Autoimmune hemolytic anemia, cold type
  101077	X-linked Charcot-Marie-Tooth disease type 3
  536516	Myopathic Ehlers-Danlos syndrome
  2041	Coronary arterial fistula
  35909	Combined deficiency of factor V and factor VIII
  231242	Hemoglobin C-beta-thalassemia syndrome
  79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
  91397	Isolated ankyloblepharon filiforme adnatum
  251071	8p23.1 microdeletion syndrome
  2404	Loiasis
  98784	Autosomal dominant nocturnal frontal lobe epilepsy
  898	Wagner disease
  100034	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
  457246	Clear cell sarcoma of kidney
  306674	Kufor-Rakeb syndrome
  3201	Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome
  1995	Cleft lip-retinopathy syndrome
  391351	SURF1-related Charcot-Marie-Tooth disease type 4
  73223	Global developmental delay-osteopenia-ectodermal defect syndrome
  261529	Ring chromosome Y syndrome
  401764	Pancytopenia-developmental delay syndrome
  1682	Arterial dissection-lentiginosis syndrome
  98434	Hereditary combined deficiency of vitamin K-dependent clotting factors
  85326	X-linked intellectual disability, Stoll type
  289682	Lymphoepithelial-like carcinoma
  1656	Dermatitis herpetiformis
  360	Glioblastoma
  86923	Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
  528647	Hereditary angioedema with normal C1Inh
  1698	Mosaic trisomy 12
  157946	Huntington disease-like 3
  50810	Microlissencephaly-micromelia syndrome
  566847	Aprosencephaly/atelencephaly spectrum
  97278	PPoma
  141168	Frontonasal arteriovenous malformation
  319	Skeletal Ewing sarcoma
  1361	Carnosinase deficiency
  90050	Retinopathy of prematurity
  69061	Idiopathic steroid-sensitive nephrotic syndrome
  2995	Baraitser-Winter cerebrofrontofacial syndrome
  1836	Mesomelic dysplasia, Kantaputra type
  300333	Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome
  279894	Toxic maculopathy due to antimalarial drugs
  506112	Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas
  329967	Intermittent hydrarthrosis
  90056	Moderate and severe traumatic brain injury
  884	Tetrasomy 12p
  314466	Atypical Meigs syndrome
  1003	Scalp defects-postaxial polydactyly syndrome
  756	Pseudohypoaldosteronism type 1
  99845	Genetic recurrent myoglobinuria
  581271	Cramp-fasciculation syndrome
  75374	Bradyopsia
  580	Mucopolysaccharidosis type 2
  217557	Pulmonary interstitial glycogenosis
  55654	Hypotrichosis simplex
  2274	Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
  33408	Bullous lichen planus
  261	Emery-Dreifuss muscular dystrophy
  1300	Autosomal dominant popliteal pterygium syndrome
  166433	Reading seizures
  2907	Hereditary acrokeratotic poikiloderma
  251957	Anaplastic ganglioglioma
  98962	Granular corneal dystrophy type I
  3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
  464440	Primary dystonia, DYT27 type
  1388	Catel-Manzke syndrome
  42642	PFAPA syndrome
  319195	Chondroectodermal dysplasia with night blindness
  1646	Partial chromosome Y deletion
  314718	Lethal arteriopathy syndrome due to fibulin-4 deficiency
  3424	Velo-facial-skeletal syndrome
  280397	Familial Alzheimer-like prion disease
  238475	Familial hypercholanemia
  123	Björnstad syndrome
  93929	Cloacal exstrophy
  99919	Staphylococcal toxic-shock syndrome
  205	Crigler-Najjar syndrome
  369942	CADDS
  369840	TRAPPC11-related limb-girdle muscular dystrophy R18
  79141	Hereditary painful callosities
  498	Keratosis pilaris atrophicans
  2357	Bronchogenic cyst
  96256	Somatotropic adenoma
  252164	Benign schwannoma
  1647	Oculocerebrocutaneous syndrome
  98823	Chronic myelomonocytic leukemia
  34149	Autosomal dominant tubulointerstitial kidney disease
  157954	ANE syndrome
  592574	Menke-Hennekam syndrome
  79241	Biotinidase deficiency
  276	T-B+ severe combined immunodeficiency due to gamma chain deficiency
  391723	Mucinous adenocarcinoma of the appendix
  228190	Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
  86900	Interdigitating dendritic cell sarcoma
  99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
  443098	Hyperostosis cranialis interna
  139573	Hereditary sensory and autonomic neuropathy with deafness and global delay
  444099	Autosomal dominant spastic paraplegia type 73
  319213	Lujo hemorrhagic fever
  2591	Infantile myofibromatosis
  1529	Craniofacial-deafness-hand syndrome
  221043	Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome
  564	Meckel syndrome
  93101	Renal hypoplasia
  541507	Anomalous origin of coronary artery from the pulmonary artery
  469	Hereditary fructose intolerance
  2808	Laryngeal abductor paralysis
  289380	Myosclerosis
  69736	Bilateral acute depigmentation of the iris
  1447	Ring chromosome 4 syndrome
  506075	Non-functioning neuroendocrine tumor of pancreas
  209973	Benign nocturnal alternating hemiplegia of childhood
  99055	Congenital anomaly of the tricuspid valve chordae
  280921	Idiopathic panuveitis
  1816	Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
  178303	8q22.1 microdeletion syndrome
  424261	TOR1AIP1-related limb-girdle muscular dystrophy
  279891	Chronic endophthalmitis
  99776	Mosaic trisomy 9
  86822	Lissencephaly type 3-metacarpal bone dysplasia syndrome
  96186	Maternal uniparental disomy of chromosome 20
  3282	Multifocal atrial tachycardia
  325	Congenital factor II deficiency
  3318	Essential thrombocythemia
  1839	Hereditary mucoepithelial dysplasia
  2752	Orofaciodigital syndrome type 3
  251347	Ataxia-telangiectasia-like disorder
  1570	Symbrachydactyly of hands and feet
  101083	Charcot-Marie-Tooth disease type 1C
  178509	Perry syndrome
  157826	Congenital epulis
  550	MELAS
  649	Norrie disease
  412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency
  1951	Epilepsy-telangiectasia syndrome
  54260	Left ventricular noncompaction
  1756	Caudal duplication
  3035	Growth delay-hydrocephaly-lung hypoplasia syndrome
  293843	3MC syndrome
  401942	Familial median cleft of the upper and lower lips
  206613	Infectious disease with peripheral neuropathy
  3074	Intellectual disability-short stature-hypertelorism syndrome
  284139	Larsen-like syndrome, B3GAT3 type
  488168	Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
  459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
  2575	Cystic fibrosis-gastritis-megaloblastic anemia syndrome
  1449	Ring chromosome 7 syndrome
  563687	Furuncular myiasis due to Cordylobia anthropophaga
  397787	Severe combined immunodeficiency due to IKK2 deficiency
  79409	Recessive dystrophic epidermolysis bullosa inversa
  1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia
  100997	X-linked spastic paraplegia type 16
  65683	Isolated focal cortical dysplasia
  556	Malakoplakia
  2067	GAPO syndrome
  101068	Congenital stromal corneal dystrophy
  99812	LIG4 syndrome
  84	Fanconi anemia
  319340	Carney complex-trismus-pseudocamptodactyly syndrome
  1825	Epiphyseal dysplasia-hearing loss-dysmorphism syndrome
  60032	Recurrent respiratory papillomatosis
  314962	Secondary hypereosinophilic syndrome
  2233	Hypogonadism-mitral valve prolapse-intellectual disability syndrome
  1173	Cerebellar ataxia-hypogonadism syndrome
  574	21q deletion syndrome
  397937	Polyglucosan body myopathy type 1
  79193	Disorder of pyrimidine metabolism
  3328	Absent tibia-polydactyly-arachnoid cyst syndrome
  2619	Brachydactylous dwarfism, Mseleni type
  280892	Posterior uveitis
  227535	Hereditary breast cancer
  300382	Progeroid and marfanoid aspect-lipodystrophy syndrome
  98827	Unclassified myelodysplastic syndrome
  282196	Autoimmune polyendocrinopathy
  96175	Ring chromosome 11 syndrome
  85	Congenital dyserythropoietic anemia
  1406	Charlie M syndrome
  466682	Euthyroid Graves orbitopathy
  272	Congenital muscular dystrophy, Fukuyama type
  289560	Mitochondrial membrane protein-associated neurodegeneration
  1801	Kyphomelic dysplasia
  314381	Hereditary sensory and autonomic neuropathy type 6
  2122	Kaposiform hemangioendothelioma
  529965	Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome
  1934	Early infantile epileptic encephalopathy
  370076	Fetal carbamazepine syndrome
  102023	Typhus-group rickettsiosis
  294925	Amelia
  1516	Non-syndromic bilambdoid and sagittal craniosynostosis
  1207	Pulmonary atresia with ventricular septal defect
  86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
  805	Tuberous sclerosis complex
  85170	Mesomelic dysplasia, Savarirayan type
  85335	Fried syndrome
  85414	Systemic-onset juvenile idiopathic arthritis
  436003	Contractures-developmental delay-Pierre Robin syndrome
  969	Acromicric dysplasia
  98769	Spinocerebellar ataxia type 15/16
  1446	Ring chromosome 22 syndrome
  1035	Beta-mercaptolactate cysteine disulfiduria
  98981	Essential iris atrophy
  1779	Dysmorphism-cleft palate-loose skin syndrome
  231249	Hemoglobin E-beta-thalassemia syndrome
  864	Trichofolliculoma
  35121	Lysosomal acid phosphatase deficiency
  99015	Spastic paraplegia type 2
  247827	Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome
  91351	Pituitary dermoid and epidermoid cysts
  294975	Congenital absence of upper arm and forearm with hand present
  1515	Cranioectodermal dysplasia
  319595	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
  99734	Myotonia fluctuans
  435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
  2194	Anti-HLA hyperimmunization
  66627	Tenosynovial giant cell tumor
  89937	Autosomal dominant hypophosphatemic rickets
  51	Aicardi-Goutières syndrome
  443084	Baroreflex failure
  243367	Acute fatty liver of pregnancy
  228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome
  2221	Acquired hypertrichosis lanuginosa
  103908	Congenital sodium diarrhea
  2763	Osteocraniostenosis
  412035	13q12.3 microdeletion syndrome
  276435
  256	Early-onset generalized limb-onset dystonia
  217566	Chronic respiratory distress with surfactant metabolism deficiency
  478	Kallmann syndrome
  217008	Bockenheimer syndrome
  49827	Thiamine-responsive megaloblastic anemia syndrome
  544482	Infection-related hemolytic uremic syndrome
  216812	Osteogenesis imperfecta type 3
  284984	Aneurysm-osteoarthritis syndrome
  538934	X-linked lymphoproliferative disease due to XIAP deficiency
  1338	Heart defect-tongue hamartoma-polysyndactyly syndrome
  486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
  42775	PHACE syndrome
  352328	MEGDEL syndrome
  280640	Occipital pachygyria and polymicrogyria
  83467	Morvan syndrome
  466722	Autosomal recessive spastic paraplegia type 77
  56	Alkaptonuria
  2770	Nasu-Hakola disease
  3258	Cenani-Lenz syndrome
  89843	Dystrophic epidermolysis bullosa pruriginosa
  199244	Nelson syndrome
  206564	POMGNT1-related limb-girdle muscular dystrophy R15
  98808	Autosomal dominant dopa-responsive dystonia
  96103	Distal duplication 11q
  180154	Septate vagina
  521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
  85169	Familial digital arthropathy-brachydactyly
  655	Nephronophthisis
  1174	Cerebellar ataxia-ectodermal dysplasia syndrome
  238606	Primary orthostatic tremor
  1809	Hidrotic ectodermal dysplasia, Halal type
  3351	Trichodental syndrome
  168593	Sudden infant death-dysgenesis of the testes syndrome
  1334	Chronic mucocutaneous candidiasis
  199647	Isolated encephalocele
  251375	Sickle cell-hemoglobin E disease syndrome
  3148	Malignant peripheral nerve sheath tumor
  93333	Pelviscapular dysplasia
  90080	Scarring in glaucoma filtration surgical procedures
  96201	X small rings
  69063	Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization
  2409	Lowry-MacLean syndrome
  157949	Combined immunodeficiency with granulomatosis
  870	Down syndrome
  65283	Timothy syndrome
  877	Neuroendocrine neoplasm
  139	CHILD syndrome
  85112	Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
  162516	Isolated congenital nasal pyriform aperture stenosis
  226316	Genetic transient congenital hypothyroidism
  500	Noonan syndrome with multiple lentigines
  2405	Thickened earlobes-conductive deafness syndrome
  1253	Ascher syndrome
  210159	Adult hepatocellular carcinoma
  2148	Lissencephaly type 1 due to doublecortin gene mutation
  322	Exstrophy-epispadias complex
  169105	Good syndrome
  1745	Distal duplication 6p
  2523	Microcephaly-brain defect-spasticity-hypernatremia syndrome
  60014	Argyria
  3052	X-linked intellectual disability-seizures-psoriasis syndrome
  51577	Cobblestone lissencephaly
  96101	Distal duplication 9q
  96072	4p16.3 microduplication syndrome
  273	Steinert myotonic dystrophy
  41751	Bietti crystalline dystrophy
  3109	Mayer-Rokitansky-Küster-Hauser syndrome
  100079	Neuroendocrine neoplasm of appendix
  79333	COG7-CDG
  99867	Thymoma
  86829	Chronic neutrophilic leukemia
  178493	Myopic macular degeneration
  110	Bardet-Biedl syndrome
  43115	Hereditary myopathy with lactic acidosis due to ISCU deficiency
  85448	AGel amyloidosis
  466670	Cyanide poisoning
  3041	Intellectual disability-balding-patella luxation-acromicria syndrome
  99046	Double outlet right ventricle with non-committed subpulmonary ventricular septal defect
  79474	Atypical Werner syndrome
  2008	Acrocardiofacial syndrome
  100015	Lissencephaly with cerebellar hypoplasia type E
  3322	Hoyeraal-Hreidarsson syndrome
  369950	Intellectual disability-seizures-macrocephaly-obesity syndrome
  261197	Proximal 16p11.2 microdeletion syndrome
  352479	ISPD-related limb-girdle muscular dystrophy R20
  90647	Jervell and Lange-Nielsen syndrome
  1576	Infantile bilateral striatal necrosis
  1308	C syndrome
  79085	AKT2-related familial partial lipodystrophy
  99798	Oligodontia
  436242	Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease
  1389	Cortical blindness-intellectual disability-polydactyly syndrome
  157835	Paroxysmal hemicrania
  2432	Macrosomia-microphthalmia-cleft palate syndrome
  2332	KBG syndrome
  926	Acatalasemia
  1236	Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
  1164	Allergic bronchopulmonary aspergillosis
  404507	Chondromyxoid fibroma
  3023	External auditory canal atresia-vertical talus-hypertelorism syndrome
  363680	2p13.2 microdeletion syndrome
  2347	Lethal Kniest-like dysplasia
  254930	Combined oxidative phosphorylation defect type 7
  2118	Hawkinsinuria
  163696	Action myoclonus-renal failure syndrome
  79330	MOGS-CDG
  36426	Stevens-Johnson syndrome
  71267	Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
  69663	Low phospholipid-associated cholelithiasis
  1243	Best vitelliform macular dystrophy
  209959	Phacoanaphylactic uveitis
  251671	Angiocentric glioma
  3464	Woodhouse-Sakati syndrome
  352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome
  140989	Primary angiitis of the central nervous system
  1051	Ramos-Arroyo syndrome
  99807	PEHO-like syndrome
  2195	Dicarboxylic aminoaciduria
  1240	Metaphyseal acroscyphodysplasia
  3319	Congenital amegakaryocytic thrombocytopenia
  100020	Refractory anemia with excess blasts type 2
  99892	ACTH-dependent Cushing syndrome
  424	Familial hyperthyroidism due to mutations in TSH receptor
  449285	Snakebite envenomation
  79443	Pseudohypoparathyroidism type 1A
  91490	Isolated congenital sclerocornea
  3352	Tricho-dento-osseous syndrome
  295049	Upper limb hypertrophy
  2388	Choreoacanthocytosis
  70476	Vernal keratoconjunctivitis
  329475	Spastic paraplegia-Paget disease of bone syndrome
  227972	Toxic oil syndrome
  220436	Quebec platelet disorder
  99171	Isolated congenital ectropion
  284448	CLIPPERS
  93382	Brachydactyly type A6
  97335	Osgood-Schlatter disease
  1136
  1306
  137698
  137911
  139491
  1428
  1533
  1549
  163892
  163895
  163908
  163924
  168960
  169615
  171201
  171208
  171215
  171676
  171860
  189439
  206473
  213524
  221150
  2292
  2343
  238755
  255249
  268392
  268740
  268835
  268838
  2725
  275534
  276402
  280914
  2950
  31142
  3133
  3135
  3267
  329252
  329341
  3332
  34527
  352740
  370019
  466801
  493348
  499004
  514
  553
  63440
  73247
  73274
  759
  79457
  79506
  86836
  86843
  90290
  91133
  93359
  93921
  94095
  946
  95458
  96152
  96369
  965
  966
  98253
  98277
  98826
  93339