Generated Narrative: ValueSet eHDSIRareDisease

• Include these codes as defined in urn:oid:1.3.6.1.4.1.12559.11.10.1.3.1.44.5

  Code	Display
  18	Distal renal tubular acidosis
  26	Methylmalonic acidemia with homocystinuria
  35	Propionic acidemia
  36	Acrocallosal syndrome
  49	Penile agenesis
  76	Strongyloidiasis
  93	Aspartylglucosaminuria
  96	Ataxia with vitamin E deficiency
  123	Björnstad syndrome
  456369	Polyglucosan body myopathy type 2
  457083	Isolated splenogonadal fusion
  457223	Syndromic sensorineural deafness due to combined oxidative phosphorylation defect
  457265	Progressive myoclonic epilepsy type 9
  457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
  459056	Autosomal recessive spastic paraplegia type 75
  464288	Short stature-brachydactyly-obesity-global developmental delay syndrome
  464318	Verrucous hemangioma
  464359	Benign metanephric tumor
  466650	Exercise-induced malignant hyperthermia
  466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
  466784	Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect
  468635	Cryptogenic multifocal ulcerous stenosing enteritis
  476093	Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome
  476119	Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome
  477787	Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
  477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
  478664	Hereditary sensory and autonomic neuropathy type 8
  480483	Progressive familial intrahepatic cholestasis type 4
  480501	Choledochal cyst
  480512	Idiopathic ductopenia
  480528	Lethal hydranencephaly-diaphragmatic hernia syndrome
  480553	Aneurysmal bone cyst
  480851	Hereditary thrombocytopenia with early-onset myelofibrosis
  485426	Isolated congenital hepatic fibrosis
  487809	Pediatric collagenous gastritis
  488437	SIX2-related frontonasal dysplasia
  488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
  495844	C11ORF73-related autosomal recessive hypomyelinating leukodystrophy
  495875	Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
  496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
  498251	Menstrual cycle-dependent periodic fever
  500163	Witteveen-Kolk syndrome
  506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
  508476	Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome
  508488	8q24.3 microdeletion syndrome
  508523	Hyperphenylalaninemia due to DNAJC12 deficiency
  519398	Isolated foveal hypoplasia
  521219	Mirizzi syndrome
  525731	Pediatric-onset Graves disease
  528091	Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
  529468	Monoclonal mast cell activation syndrome
  529831	Letrozole toxicity
  529962	17q24.2 microdeletion syndrome
  529980	Inflammatory bowel disease-recurrent sinopulmonary infections syndrome
  530033	Dermoid or epidermoid cyst of the central nervous system
  530303	Progressive dementia with neuroserpin inclusion bodies
  538574	Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome
  538963	Combined immunodeficiency due to ITK deficiency
  541423	Growth delay-intellectual disability-hepatopathy syndrome
  542585	Auditory neuropathy-optic atrophy syndrome
  544472	Atypical hemolytic uremic syndrome with complement gene abnormality
  544578	Congenital primary megaureter, refluxing and obstructed form
  544602	Congenital myopathy with reduced type 2 muscle fibers
  558411	Idiopathic gastroparesis
  563666	Serous cystadenoma of childhood
  144	Lynch syndrome
  156	Carnitine palmitoyl transferase 1A deficiency
  168	Loose anagen syndrome
  189	Hidrotic ectodermal dysplasia
  193	Cohen syndrome
  199	Cornelia de Lange syndrome
  212	Cystathioninuria
  222	Erosive pustular dermatosis of the scalp
  233	Duane retraction syndrome
  245	Nager syndrome
  246	Postaxial acrofacial dysostosis
  256	Early-onset generalized limb-onset dystonia
  272	Congenital muscular dystrophy, Fukuyama type
  296	Ollier disease
  308	Progressive myoclonic epilepsy type 1
  318	Acute erythroid leukemia
  319	Skeletal Ewing sarcoma
  377	Gorlin syndrome
  382	Guanidinoacetate methyltransferase deficiency
  407	Glycine encephalopathy
  417	Neonatal severe primary hyperparathyroidism
  444	Marie Unna hereditary hypotrichosis
  461	Recessive X-linked ichthyosis
  506	Leigh syndrome
  509	Leptospirosis
  529	Roch-Leri mesosomatous lipomatosis
  530	Lipoid proteinosis
  549	Legionnaires disease
  551	MERRF
  566	Congenital microcoria
  568	Microphthalmia, Lenz type
  616	Medulloblastoma
  622	Homocystinuria without methylmalonic aciduria
  631	Non-acquired isolated growth hormone deficiency
  641	Multifocal motor neuropathy
  656	Genetic steroid-resistant nephrotic syndrome
  668	Osteosarcoma
  675	Annular pancreas
  676	Hereditary chronic pancreatitis
  714	Hemolytic anemia due to diphosphoglycerate mutase deficiency
  723	Pneumocystosis
  746	Mitochondrial trifunctional protein deficiency
  753	46,XY difference of sex development due to 5-alpha-reductase 2 deficiency
  770	Rabies
  565858	Craniosynostosis-microretrognathia-severe intellectual disability syndrome
  566243	Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
  566862	Left sided atrial isomerism
  567544	Idiopathic non-lupus full-house nephropathy
  570470	Ricin poisoning
  576074	Middle East respiratory syndrome
  576232	Partial atrioventricular septal defect with ventricular hypoplasia
  576379	Iatrogenic Creutzfeldt-Jakob disease
  583607	Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency
  589527	Spinocerebellar ataxia type 45
  589827	Juvenile-onset Steinert myotonic dystrophy
  595105	Timothy syndrome type 2
  597743	SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
  599490	Acquired factor V deficiency
  600663	NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance
  600668	CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome
  600691	Combined deficiency of factor VII and factor X
  600961	Non-syndromic anorectal malformation with rectourethral fistula
  600966	Non-syndromic anorectal malformation with rectourethral fistula, bulbar type
  600993	Non-syndromic anorectal malformation with vestibular fistula
  600998	Non-syndromic cloacal malformation
  601002	Non-syndromic anorectal malformation without fistula
  601028	Non-syndromic anorectal malformation with rectovaginal fistula
  603694	KLHL7-related Crisponi/cold-induced sweating-like syndrome
  610573	CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome
  615954	Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome
  615970	Chronic intervillositis of unknown etiology
  616874	Rare disorder without a determined diagnosis after full investigation
  617449	Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome
  617910	Conjunctival malignant melanoma
  619941	Immune deficiency due to impaired neutrophil phagocytosis and migration
  620198	Non-syndromic bicoronal and metopic craniosynostosis
  620363	Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome
  622925	X-linked severe syndromic thoracic aortic aneurysm and dissection
  624166	Non-specific autoimmune supratentorial encephalitis with characteristic antibodies
  624190	Paraneoplastic isolated brainstem encephalitis
  624216	Non-specific autoimmune brainstem encephalitis without characteristic antibodies
  624259	Non-specific autoimmune cerebellar ataxia with characteristic antibodies
  631068	Autosomal dominant spastic paraplegia type 80
  631082	Autosomal recessive spastic paraplegia type 85
  631085	Autosomal recessive spastic paraplegia type 86
  631106	Spinocerebellar ataxia type 49
  632603	Mesomelic dysplasia-digital anomalies-intellectual disability syndrome
  633076	Split cord malformation, composite type
  634461	Mosaic neurofibromatosis type 1
  636965	Autosomal dominant myosin storage myopathy
  641368	Autosomal recessive hyper-IgE syndrome
  641396	Central nervous system tuberculosis
  642788	Cushing syndrome due to cortisol-producing adrenocortical adenoma
  643538	Hao-Fountain syndrome due to USP7 mutation
  645288	Terminal extramedullary conus spinal cord lipoma
  645362	Dorsal spinal cord lipoma
  645388	Hemi-myelomeningocele
  645393	Hemi-myeloschisis
  647788	Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome
  648681	Immune-mediated scleritis
  648919	Idiopathic catatonia
  650077	Genetic central precocious puberty in female
  650087	Primary central precocious puberty in male
  650102	Non-genetic central precocious puberty in male
  780	Rhabdomyosarcoma
  793	SAPHO syndrome
  797	Sarcoidosis
  798	Schinzel-Giedion syndrome
  803	Amyotrophic lateral sclerosis
  854	Primitive portal vein thrombosis
  874	Primary adult heart tumor
  889	Cutaneous small vessel vasculitis
  892	Von Hippel-Lindau disease
  903	Von Willebrand disease
  905	Wilson disease
  920	Ablepharon macrostomia syndrome
  939	3-hydroxyisobutyric aciduria
  958	Acro-renal-mandibular syndrome
  959	Acro-renal-ocular syndrome
  969	Acromicric dysplasia
  1005	Alopecia-contractures-dwarfism-intellectual disability syndrome
  1052	Mosaic variegated aneuploidy syndrome
  1063	Tufted angioma
  1074	Ankyloblepharon filiforme adnatum-imperforate anus syndrome
  1112	Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
  1160	Chylous ascites
  1178	Ataxia-tapetoretinal degeneration syndrome
  1180	Ataxia-hypogonadism-choroidal dystrophy syndrome
  1194	TMEM70-related mitochondrial encephalo-cardio-myopathy
  1201	Small bowel atresia
  1209	Tricuspid atresia
  1214	Progressive hemifacial atrophy
  1223	Balantidiasis
  1231	Barber-Say syndrome
  1270	Bowen-Conradi syndrome
  1278	Brachydactyly-preaxial hallux varus syndrome
  1302	Cryptogenic organizing pneumonia
  1304	Brucellosis
  1335	Pentalogy of Cantrell
  1377	Cataract-microcornea syndrome
  1410	Uncombable hair syndrome
  1445	Ring chromosome 21 syndrome
  1453	Cleidorhizomelic syndrome
  1454	Joubert syndrome with hepatic defect
  1486	Lethal congenital contracture syndrome type 1
  1508	Coxoauricular syndrome
  1513	Craniodiaphyseal dysplasia
  1520	Craniofrontonasal dysplasia
  1525	Cranio-osteoarthropathy
  1527	Craniosynostosis, Philadelphia type
  1556	Cutis marmorata telangiectatica congenita
  1600	Monosomy 18q
  1642	Distal deletion 9p
  1671	Split cord malformation type I
  1685	Distomatosis
  1711	Mosaic trisomy 17
  1715	Trisomy 18p
  1765	Dyschondrosteosis-nephritis syndrome
  1766	Dysequilibrium syndrome
  1770	XY type gonadal dysgenesis-associated anomalies syndrome
  1779	Dysmorphism-cleft palate-loose skin syndrome
  1798	Dysostosis, Stanescu type
  1799	Familial developmental dysphasia
  1842	Bone dysplasia, lethal Holmgren type
  1855	Spondyloenchondrodysplasia
  1860	Thanatophoric dysplasia type 1
  1861	Thoracic dysplasia-hydrocephalus syndrome
  1891	Intellectual disability-spasticity-ectrodactyly syndrome
  1909	Indomethacin embryofetopathy
  1912	Fetal hydantoin syndrome
  1937	Eng-Strom syndrome
  1946	Amelocerebrohypohidrotic syndrome
  2017	Sternal cleft
  2025	Gingival fibromatosis-facial dysmorphism syndrome
  2027	Gingival fibromatosis-progressive deafness syndrome
  2035	Lymphatic filariasis
  2039	Congenital systemic arteriovenous fistula
  2062	Progressive non-infectious anterior vertebral fusion
  2065	Galloway-Mowat syndrome
  2083	Prominent glabella-microcephaly-hypogenitalism syndrome
  2091	Multinodular goiter-cystic kidney-polydactyly syndrome
  2092	Focal dermal hypoplasia
  2131	Alternating hemiplegia of childhood
  2139	Hernández-Aguirre Negrete syndrome
  2140	Congenital diaphragmatic hernia
  2141	Diaphragmatic defect-limb deficiency-skull defect syndrome
  2155	Hirschsprung disease-deafness-polydactyly syndrome
  2162	Holoprosencephaly
  2195	Dicarboxylic aminoaciduria
  2196	Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
  2200	Focal palmoplantar and gingival keratoderma
  2220	Hypertrichosis cubiti
  2224	Hypertryptophanemia
  2252	Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
  2254	Pontocerebellar hypoplasia type 1
  2256	Fibulo-ulnar hypoplasia-renal anomalies syndrome
  2269	Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
  2274	Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
  2282	Dysmorphism-short stature-deafness-difference of sex development syndrome
  2301	Congenital short bowel syndrome
  2323	Sanjad-Sakati syndrome
  2333	Kenny-Caffey syndrome
  2334	Autosomal dominant keratitis
  2342	Haim-Munk syndrome
  2351	Kousseff syndrome
  2356	Arachnoid cyst
  2371	Lethal Larsen-like syndrome
  2399	Nasopalpebral lipoma-coloboma syndrome
  2427	Macrocephaly-short stature-paraplegia syndrome
  2432	Macrosomia-microphthalmia-cleft palate syndrome
  2462	Shprintzen-Goldberg syndrome
  2494	Ménétrier disease
  2497	Upper limb mesomelic dysplasia
  2573	Moyamoya disease
  2578	Mayer-Rokitansky-Küster-Hauser syndrome type 2
  2583	Mycetoma
  2604	Familial visceral myopathy
  2609	Isolated complex I deficiency
  2637	Microcephalic osteodysplastic primordial dwarfism type II
  2646	Parastremmatic dwarfism
  2663	Nathalie syndrome
  2669	Nephrosis-deafness-urinary tract-digital malformations syndrome
  2698	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
  2715	Severe oculo-renal-cerebellar syndrome
  2721	Odonto-onycho-dermal dysplasia
  2729	Okamoto syndrome
  2750	Orofaciodigital syndrome type 1
  2755	Orofaciodigital syndrome type 8
  2764	Osteochondritis dissecans
  2769	Familial osteodysplasia, Anderson type
  2779	Osteopathia striata-pigmentary dermopathy-white forelock syndrome
  2780	Osteopathia striata-cranial sclerosis syndrome
  2788	Osteoporosis-pseudoglioma syndrome
  2812	Parana hard skin syndrome
  2826	Spastic paraplegia-precocious puberty syndrome
  2832	Short tarsus-absence of lower eyelashes syndrome
  2834	Wrinkly skin syndrome
  2849	Perlman syndrome
  2868	Short stature-valvular heart disease-characteristic facies syndrome
  2876	PHAVER syndrome
  2888	Pierre Robin syndrome-faciodigital anomaly syndrome
  2899	Brachyolmia-amelogenesis imperfecta syndrome
  2907	Hereditary acrokeratotic poikiloderma
  2911	Poland syndrome
  2912	Poliomyelitis
  2956	Acrodysplasia scoliosis
  2959	Progeria-short stature-pigmented nevi syndrome
  2967	Transcobalamin I deficiency
  2969	Proteus-like syndrome
  2999	Ptosis-strabismus-ectopic pupils syndrome
  3011	Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
  3020	Ramsay Hunt syndrome
  3038	Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
  3057	Monoamine oxidase A deficiency
  3086	Autosomal dominant vitreoretinochoroidopathy
  3107	Autosomal dominant Robinow syndrome
  3115	Roussy-Lévy syndrome
  3124	Saccharopinuria
  3130	Satoyoshi syndrome
  3138	Ulnar-mammary syndrome
  3156	Senior-Loken syndrome
  3166	Sialuria
  3169	Sirenomelia
  3197	Hereditary hyperekplexia
  3216	Conductive deafness-malformed external ear syndrome
  3241	Deafness-craniofacial syndrome
  3242	Renpenning syndrome
  3259	Syndactyly-polydactyly-ear lobe syndrome
  3262	Dobrow syndrome
  3266	Humero-radio-ulnar synostosis
  3286	Catecholaminergic polymorphic ventricular tachycardia
  3307	Tetrasomy 18p
  3324	Familial thrombomodulin anomalies
  3325	Heparin-induced thrombocytopenia
  3329	Tibial aplasia-ectrodactyly syndrome
  3347	Mounier-Kühn syndrome
  3365	Trigonocephaly-broad thumbs syndrome
  3375	Trisomy X
  3385	African trypanosomiasis
  3386	American trypanosomiasis
  3403	Uhl anomaly
  3405	Umbilical cord ulceration-intestinal atresia syndrome
  3447	Weaver syndrome
  3466	WT limb-blood syndrome
  32960	Tumor necrosis factor receptor 1 associated periodic syndrome
  33108	Lethal multiple pterygium syndrome
  33445	Neuroectodermal melanolysosomal disease
  33573	Gamma-glutamyl transpeptidase deficiency
  34520	Congenital muscular dystrophy with integrin alpha-7 deficiency
  34592	Immunodeficiency by defective expression of MHC class I
  35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency
  35125	Epidermal nevus syndrome
  35704	L-Arginine:glycine amidinotransferase deficiency
  35706	Glutaric acidemia type 3
  36387	Generalized epilepsy with febrile seizures-plus
  37748	Schnitzler syndrome
  40366	Acitretin/etretinate embryopathy
  40923	Eales disease
  43115	Hereditary myopathy with lactic acidosis due to ISCU deficiency
  43393	Lambert-Eaton myasthenic syndrome
  46627	Char syndrome
  48435	Postinfectious vasculitis
  49827	Thiamine-responsive megaloblastic anemia syndrome
  50251	Pleural mesothelioma
  50809	Talo-patello-scaphoid osteolysis
  50811	Lipodystrophy-intellectual disability-deafness syndrome
  50812	Zellweger-like syndrome without peroxisomal anomalies
  50942	Striate palmoplantar keratoderma
  50944	Schöpf-Schulz-Passarge syndrome
  51188	Ethylmalonic encephalopathy
  52054	Craniosynostosis-intracranial calcifications syndrome
  52416	Mantle cell lymphoma
  53035	Caroli disease
  53583	Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
  53721	Spinal arteriovenous metameric syndrome
  56305	Atelosteogenesis type III
  60039	Pudendal neuralgia
  63269	Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
  63275	Pemphigoid gestationis
  63455	Paraneoplastic pemphigus
  64753	Spinocerebellar ataxia with axonal neuropathy type 2
  64754	Nevus comedonicus syndrome
  65285	Lhermitte-Duclos disease
  65286	3q29 microdeletion syndrome
  65681	Vaginal atresia
  66624	PANDAS
  66627	Tenosynovial giant cell tumor
  66629	Goldberg-Shprintzen megacolon syndrome
  69084	Pure hair and nail ectodermal dysplasia
  69663	Low phospholipid-associated cholelithiasis
  69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
  69736	Bilateral acute depigmentation of the iris
  70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
  70475	Radiation proctitis
  70568	Post-transplant lymphoproliferative disease
  70578	Adult acute respiratory distress syndrome
  70589	Bronchopulmonary dysplasia
  70592	Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
  71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
  73245	Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome
  73271	Bleeding diathesis due to a collagen receptor defect
  75326	Retinal arterial tortuosity
  77297	Majeed syndrome
  77298	Anophthalmia/microphthalmia-esophageal atresia syndrome
  79076	Juvenile polyposis of infancy
  79084	Familial partial lipodystrophy, Köbberling type
  79093	Foix-Alajouanine syndrome
  79095	Congenital bile acid synthesis defect type 4
  79126	Acute interstitial pneumonia
  79127	Respiratory bronchiolitis-interstitial lung disease syndrome
  79135	Episodic ataxia type 3
  79136	Episodic ataxia type 4
  79137	Generalized epilepsy-paroxysmal dyskinesia syndrome
  79146	Familial progressive hyperpigmentation
  79153	Idiopathic trachyonychia
  79155	Hydroxykynureninuria
  79159	Isobutyryl-CoA dehydrogenase deficiency
  79230	HJV or HAMP-related hemochromatosis
  79238	Galactose epimerase deficiency
  79241	Biotinidase deficiency
  79269	Sanfilippo syndrome type A
  79270	Sanfilippo syndrome type B
  79278	Autosomal erythropoietic protoporphyria
  79293	Familial LCAT deficiency
  79314	L-2-hydroxyglutaric aciduria
  79394	Congenital ichthyosiform erythroderma
  79404	Severe generalized junctional epidermolysis bullosa
  79432	Oculocutaneous albinism type 2
  79435	Oculocutaneous albinism type 4
  79445	Pseudopseudohypoparathyroidism
  79452	Milroy disease
  79474	Atypical Werner syndrome
  79493	Brooke-Spiegler syndrome
  83317	Scrub typhus
  83451	Florid cemento-osseous dysplasia
  83593	Western equine encephalitis
  83642	Microcytic anemia with liver iron overload
  85138	Addison disease
  85172	Microcephalic osteodysplastic dysplasia, Saul-Wilson type
  85191	Singleton-Merten dysplasia
  85199	Craniosynostosis-anal anomalies-porokeratosis syndrome
  85273	X-linked intellectual disability, Abidi type
  85275	Microphthalmia-ankyloblepharon-intellectual disability syndrome
  85322	X-linked intellectual disability, Pai type
  85414	Systemic-onset juvenile idiopathic arthritis
  86817	Hemolytic anemia due to adenylate kinase deficiency
  86839	Refractory anemia with excess blasts
  86843	Acute panmyelosis with myelofibrosis
  86854	Splenic marginal zone lymphoma
  86886	Angioimmunoblastic T-cell lymphoma
  88616	Autosomal recessive non-syndromic intellectual disability
  88939	Pseudohypoaldosteronism type 2B
  88949	MUC1-related autosomal dominant tubulointerstitial kidney disease
  90020	Parkinson-dementia complex of Guam
  90021	Radiation myelitis
  90066	Pneumonia caused by Pseudomonas aeruginosa infection
  90069	Systemic monochloroacetate poisoning
  90117	Hereditary motor and sensory neuropathy, Okinawa type
  90186	Meige disease
  90389	Telangiectasia macularis eruptiva perstans
  90400	Scleromyxedema without monoclonal gammopathy
  90794	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
  91352	Germinoma of the central nervous system
  91397	Isolated ankyloblepharon filiforme adnatum
  91416	Isolated congenital alacrima
  91496	Snowflake vitreoretinal degeneration
  91547	Relapsing fever
  93101	Renal hypoplasia
  93109	Congenital megacalycosis
  93256	Fragile X-associated tremor/ataxia syndrome
  93258	Pfeiffer syndrome type 1
  93267	Cloverleaf skull-multiple congenital anomalies syndrome
  93270	Short rib-polydactyly syndrome, Saldino-Noonan type
  93279	Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
  93307	Multiple epiphyseal dysplasia type 4
  93315	Spondylometaphyseal dysplasia, 'corner fracture' type
  93322	Tibial hemimelia
  93339	Polydactyly of a biphalangeal thumb and/or hallux
  93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type
  93347	Anauxetic dysplasia
  93358	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
  93396	Brachydactyly type A2
  93399	Juvenile sialidosis type 2
  93600	Primary hyperoxaluria type 3
  93602	Xanthinuria type II
  93613	Cystinuria type B
  93930	Bladder exstrophy
  93939	Laryngotracheoesophageal cleft type 2
  93946	Hamel cerebro-palato-cardiac syndrome
  93976	Anotia
  94056	Humero-ulnar synostosis
  94063	12q14 microdeletion syndrome
  94087	Cytophagic histiocytic panniculitis
  94125	Recessive mitochondrial ataxia syndrome
  95409	Acute adrenal insufficiency
  95430	Congenital tracheomalacia
  95431	Twin to twin transfusion syndrome
  95443	Mesocardia
  95462	Accessory tricuspid valve tissue
  95491	Congenital coronary artery aneurysm
  95507	Congenital anomaly of hepatic vein
  95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  96071	Distal duplication 3p
  96101	Distal duplication 9q
  96112	Non-distal duplication 9q
  96129	Distal deletion 19p
  96145	Distal deletion 4q
  96169	Koolen-De Vries syndrome
  96171	Ring chromosome 2 syndrome
  96178	Ring chromosome 16 syndrome
  96184	Temple syndrome due to maternal uniparental disomy of chromosome 14
  96188	Maternal uniparental disomy of chromosome 22
  97230	Solar urticaria
  97232	Fingerprint body myopathy
  97282	VIPoma
  97336	Panner disease
  97355	Caribbean parkinsonism
  97566	Non-amyloid fibrillary glomerulopathy
  98759	Spinocerebellar ataxia type 17
  98765	Spinocerebellar ataxia type 4
  98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
  98823	Chronic myelomonocytic leukemia
  98832	Acute myeloid leukemia with minimal differentiation
  98838	Primary mediastinal large B-cell lymphoma
  98846	Classic Hodgkin lymphoma, lymphocyte-depleted type
  98863	X-linked Emery-Dreifuss muscular dystrophy
  98871	Transient erythroblastopenia of childhood
  98892	Periventricular nodular heterotopia
  98896	Duchenne muscular dystrophy
  98934	Huntington disease-like 2
  98943	Coloboma of eye lens
  98954	Meesmann corneal dystrophy
  98962	Granular corneal dystrophy type I
  98967	Schnyder corneal dystrophy
  98970	Fleck corneal dystrophy
  98975	Congenital hereditary endothelial dystrophy type I
  98979	Chandler syndrome
  98981	Essential iris atrophy
  98990	Coralliform cataract
  99014	X-linked Charcot-Marie-Tooth disease type 5
  99057	Congenital mitral stenosis
  99058	Hypoplasia of the mitral valve annulus
  99062	Mitral valve agenesis
  99082	Dysphagia lusoria
  99110	Right superior vena cava connecting to left-sided atrium
  99120	Persistent eustachian valve
  99179	Kandori fleck retina
  99226	Monosomy X
  99228	Mosaic monosomy X
  99361	Familial medullary thyroid carcinoma
  99413	Turner syndrome due to structural X chromosome anomalies
  99688	Dermotrichic syndrome
  99748	Pontiac fever
  99772	Cleft velum
  99792	Dentin dysplasia-sclerotic bones syndrome
  99811	Neuronal intestinal pseudoobstruction
  99829	Yellow fever
  99879	Familial isolated hyperparathyroidism
  99905	Streptobacillary rat-bite fever
  99912	Malignant dysgerminomatous germ cell tumor of the ovary
  99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E
  99944	Autosomal dominant Charcot-Marie-Tooth disease type 2K
  99948	Charcot-Marie-Tooth disease type 4A
  99953	Charcot-Marie-Tooth disease type 4G
  99965	O'Sullivan-McLeod syndrome
  99991	Relapsing epidemic typhus
  100001	Sclerosing perineurioma
  100025	Alpha-heavy chain disease
  100026	Gamma-heavy chain disease
  100046	Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
  100067	Waterhouse-Friderichsen syndrome
  100085	Primary hepatic neuroendocrine carcinoma
  100086	Gallbladder neuroendocrine tumor
  100986	Autosomal recessive spastic paraplegia type 5A
  100994	Autosomal dominant spastic paraplegia type 13
  101001	Autosomal recessive spastic paraplegia type 21
  101006	Autosomal recessive spastic paraplegia type 26
  101008	Autosomal recessive spastic paraplegia type 28
  101023	Cleft hard palate
  101043	Congenital aortic valve dysplasia
  101088	X-linked hyper-IgM syndrome
  101330	Porphyria cutanea tarda
  103908	Congenital sodium diarrhea
  103909	Trehalase deficiency
  137628	Cardiac anomalies-heterotaxy syndrome
  137639	Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome
  137681	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
  137698	Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk
  137810	Nodular cutaneous amyloidosis
  137817	Arachnoiditis
  137820	Extrapelvic endometriosis
  139406	Encephalopathy due to prosaposin deficiency
  139444	Leukoencephalopathy with bilateral anterior temporal lobe cysts
  139485	Autosomal recessive ataxia due to ubiquinone deficiency
  139578	Mutilating hereditary sensory neuropathy with spastic paraplegia
  140286	Secondary hypoparathyroidism due to impaired parathormon secretion
  140927	Benign familial neonatal-infantile seizures
  140933	Linear atrophoderma of Moulin
  140957	Autosomal dominant macrothrombocytopenia
  141007	Orofaciodigital syndrome type 9
  141067	Cervicofacial fibrochondroma
  141107	Nasopharyngeal teratoma
  141121	Congenital subglottic stenosis
  141163	Glossopalatine ankylosis
  141179	Non-involuting congenital hemangioma
  141214	Isolated congenital syngnathia
  141265	Tessier number 6 facial cleft
  141288	Midline cervical cleft
  157215	Hereditary hypophosphatemic rickets with hypercalciuria
  157794	Hereditary mixed polyposis syndrome
  157946	Huntington disease-like 3
  157949	Combined immunodeficiency with granulomatosis
  158022	Progressive nodular histiocytosis
  158061	Macrophage activation syndrome
  158676	Localized dystrophic epidermolysis bullosa, nails only
  160148	Cap polyposis
  163525	Subacute cutaneous lupus erythematosus
  163690	Hypotonia-cystinuria syndrome
  163927	Pustulosis palmaris et plantaris
  166087	Von Willebrand disease type 2B
  166286	Porokeratotic eccrine ostial and dermal duct nevus
  167635	Scleromyxedema
  168577	Hereditary cryohydrocytosis with reduced stomatin
  168598	Methionine adenosyltransferase I/III deficiency
  168796	Heart-hand syndrome, Slovenian type
  168947	Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement
  169186	Autosomal recessive centronuclear myopathy
  169189	Autosomal dominant centronuclear myopathy
  169805	Moderate hemophilia A
  171839	Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
  171863	Autosomal dominant spastic paraplegia type 42
  177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
  177929	Bleeding disorder in hemophilia B carriers
  178029	Central diabetes insipidus
  178148	Antenatal multiminicore disease with arthrogryposis multiplex congenita
  178303	8q22.1 microdeletion syndrome
  178315	Undifferentiated embryonal sarcoma of the liver
  178478	Infant botulism
  178540	Primary cutaneous follicle center lymphoma
  180226	Embryonal carcinoma
  180234	Mixed germ cell tumor
  182050	MYH9-related disease
  182127	Extragonadal germinoma
  199251	Ledderhose disease
  199299	Late-onset isolated ACTH deficiency
  199351	Adult-onset dystonia-parkinsonism
  200421	Immunodeficiency with factor H anomaly
  206448	Adult Krabbe disease
  208999	Paraneoplastic sensory ganglionopathy
  209867	Autosomal dominant rhegmatogenous retinal detachment
  209959	Phacoanaphylactic uveitis
  213504	Adenocarcinoma of ovary
  213823	Adenoid cystic carcinoma of the cervix uteri
  216729	Congenitally uncorrected transposition of the great arteries with cardiac malformation
  216981	Niemann-Pick disease type C, juvenile neurologic onset
  216986	Niemann-Pick disease type C, adult neurologic onset
  217026	Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type
  217560	Neuroendocrine cell hyperplasia of infancy
  217622	Sensorineural deafness with dilated cardiomyopathy
  220386	Semilobar holoprosencephaly
  221039	Hereditary sclerosing poikiloderma, Weary type
  221046	Poikiloderma with neutropenia
  221120	Pseudoaminopterin syndrome
  225123	TFR2-related hemochromatosis
  225147	Sporadic infantile bilateral striatal necrosis
  226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function
  227796	Fundus albipunctatus
  227972	Toxic oil syndrome
  227982	Autoimmune polyendocrinopathy type 3
  228003	Severe combined immunodeficiency due to CORO1A deficiency
  228113	Anal fistula
  228190	Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
  228254	Elastoma
  228299	Mid-dermal elastolysis
  228308	Carnitine palmitoyl transferase II deficiency, neonatal form
  228366	CLN7 disease
  228374	Charcot-Marie-Tooth disease type 2B5
  228399	8q12 microduplication syndrome
  228402	2q23.1 microdeletion syndrome
  228423	Monocytopenia with susceptibility to infections
  230857	Ehlers-Danlos/osteogenesis imperfecta syndrome
  231040	Familial generalized lentiginosis
  231226	Dominant beta-thalassemia
  231568	Autosomal dominant generalized dystrophic epidermolysis bullosa
  231742	Epibulbar lipodermoid-preauricular appendage-polythelia syndrome
  238523	Atypical hypotonia-cystinuria syndrome
  238569	Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
  238583	Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
  238624	Idiopathic intracranial hypertension
  238666	Isolated congenital hypogonadotropic hypogonadism
  238763	Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
  247378	Autosomal recessive secondary polycythemia not associated with VHL gene
  247525	Citrullinemia type I
  247638	Prenatal benign hypophosphatasia
  247685	Odontohypophosphatasia
  250989	1q21.1 microdeletion syndrome
  251028	SATB2-associated syndrome due to a chromosomal rearrangement
  251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
  251623	Pituicytoma
  251630	Anaplastic oligodendroglioma
  251855	Anaplastic/large cell medulloblastoma
  251867	Classic medulloblastoma
  251877	Ganglioneuroblastoma
  251915	Papillary tumor of the pineal region
  251937	Gangliocytoma
  252006	Yolk sac tumor of central nervous system
  252021	Mixed germ cell tumor of central nervous system
  252046	Meningeal melanocytoma
  254334	Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
  254449	Atrophic lichen planus
  254478	Lichen planus pemphigoides
  254519	Kagami-Ogata syndrome
  254525	Temple syndrome due to paternal 14q32.2 microdeletion
  254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
  254898	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
  255132	Adult-onset autosomal recessive sideroblastic anemia
  255138	Pyruvate dehydrogenase E1-beta deficiency
  255210	Mitochondrial DNA-associated Leigh syndrome
  261120	14q11.2 microdeletion syndrome
  261243	16p13.11 microduplication syndrome
  261279	17q23.1q23.2 microdeletion syndrome
  261290	Trisomy 17p
  261537	Mowat-Wilson syndrome due to monosomy 2q22
  263432	Nevus of Ito
  263455	Congenital hyperinsulinism due to HNF4A deficiency
  263479	Fuchs heterochromic iridocyclitis
  264200	14q22q23 microdeletion syndrome
  264691	Isolated pulmonary capillaritis
  268173	Intermittent maple syrup urine disease
  268363	Open iniencephaly
  268943	Unilateral polymicrogyria
  269209	Isolated partial cerebellar vermis agenesis
  269221	Isolated bilateral hemispheric cerebellar hypoplasia
  269510	Congenital non-communicating hydrocephalus
  276066	Bile acid CoA ligase deficiency and defective amidation
  276608	Non-insulinoma pancreatogenous hypoglycemia syndrome
  279928	Paraneoplastic uveitis
  279934	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
  280205	Laryngotracheoesophageal cleft type 0
  280210	Pelizaeus-Merzbacher disease, connatal form
  280302	Autoimmune pancreatitis type 1
  280325	Distal deletion 12p
  280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
  280397	Familial Alzheimer-like prion disease
  280779	Cutaneous collagenous vasculopathy
  284139	Larsen-like syndrome, B3GAT3 type
  284271	Autosomal recessive cerebellar ataxia-psychomotor delay syndrome
  284289	Adult-onset autosomal recessive cerebellar ataxia
  284324	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
  284411	Glycerol kinase deficiency, juvenile form
  284979	Neonatal Marfan syndrome
  289377	Early-onset myopathy with fatal cardiomyopathy
  289478	PASH syndrome
  289483	Intellectual disability-alacrima-achalasia syndrome
  289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
  293202	Epithelioid sarcoma
  293284	Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
  293807	Ketamine-induced biliary dilatation
  293888	Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
  294023	Neonatal inflammatory skin and bowel disease
  294969	Amelia of lower limb
  294977	Congenital absence of thigh and lower leg with foot present
  295002	Hyperphalangy
  295004	Central polydactyly
  295016	Camptodactyly of fingers
  295044	Macrodactyly of fingers
  295051	Lower limb hypertrophy
  295199	Synpolydactyly type 3
  295203	Congenital vertical talus, bilateral
  295217	Radio-ulnar synostosis, unilateral
  295225	Congenital elbow dislocation, unilateral
  300313	Congenital cataract-hearing loss-severe developmental delay syndrome
  300324	Persistent polyclonal B-cell lymphocytosis
  300345	Autosomal systemic lupus erythematosus
  300501	Painful orbital and systemic neurofibromas-marfanoid habitus syndrome
  300504	Onychocytic matricoma
  300557	Carcinoma of the ampulla of Vater
  306431	Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies
  306504	Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome
  306669	Hemiparkinsonism-hemiatrophy syndrome
  306692	Cyanide-induced parkinsonism-dystonia
  306776	Sporadic hyperekplexia
  307766	Curly hair-acral keratoderma-caries syndrome
  308638	Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
  309020	Familial apolipoprotein C-II deficiency
  309192	Tay-Sachs disease, B variant, adult form
  309246	GM2 gangliosidosis, AB variant
  309297	Mucopolysaccharidosis type 4A
  309310	Mucopolysaccharidosis type 4B
  313795	Jawad syndrome
  313855	FGFR2-related bent bone dysplasia
  314597	Chudley-McCullough syndrome
  314603	Autosomal recessive spastic ataxia with leukoencephalopathy
  314613	Growing teratoma syndrome
  314652	Variant ABeta2M amyloidosis
  314662	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
  314709	Primary localized amyloidosis
  314721	Atypical dentin dysplasia due to SMOC2 deficiency
  314786	Silent pituitary adenoma
  314889	Autosomal dominant proximal renal tubular acidosis
  314911	Severe Canavan disease
  314962	Secondary hypereosinophilic syndrome
  315311	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
  317473	Pancytopenia due to IKZF1 mutations
  319160	Congenital myopathy with internal nuclei and atypical cores
  319171	Distal 17p13.1 microdeletion syndrome
  319189	Familial cortical myoclonus
  319199	Autosomal recessive spastic paraplegia type 53
  319234	Venezuelan hemorrhagic fever
  319303	Chromophobe renal cell carcinoma
  319325	Tubulocystic renal cell carcinoma
  319514	Combined oxidative phosphorylation defect type 13
  319563	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
  319581	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
  319612	X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
  319623	X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
  324561	Hypopigmentation-punctate palmoplantar keratoderma syndrome
  324581	Benign Samaritan congenital myopathy
  324601	X-linked cleft palate and ankyloglossia
  324703	ABetaL34V amyloidosis
  325448	Leydig cell hypoplasia due to LHB deficiency
  325524	Classic congenital lipoid adrenal hyperplasia due to STAR deficency
  329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
  329894	Juvenile overlap myositis
  330058	Hydroa vacciniforme
  352479	ISPD-related limb-girdle muscular dystrophy R20
  352490	Autism spectrum disorder due to AUTS2 deficiency
  352712	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
  352734	Minimal pigment oculocutaneous albinism type 1
  353334	Congenital retinal arteriovenous communication
  356978	D,L-2-hydroxyglutaric aciduria
  357225	Primary non-essential cutis verticis gyrata
  363432	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
  363454	BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
  363528	Intellectual disability-strabismus syndrome
  363611	CTCF-related neurodevelopmental disorder
  363654	X-linked parkinsonism-spasticity syndrome
  363665	Acroosteolysis-keloid-like lesions-premature aging syndrome
  363710	Spinocerebellar ataxia type 37
  363746	Balint syndrome
  363958	17q21.31 microdeletion syndrome
  364577	Intellectual disability-brachydactyly-Pierre Robin syndrome
  369873	Obesity due to SIM1 deficiency
  369992	Severe dermatitis-multiple allergies-metabolic wasting syndrome
  370002	Focal palmoplantar keratoderma with joint keratoses
  370034	Familial syringomyelia
  370980	Congenital muscular dystrophy without intellectual disability
  391366	Growth retardation-mild developmental delay-chronic hepatitis syndrome
  391411	Atypical juvenile parkinsonism
  391490	Adult-onset myasthenia gravis
  391504	Transient neonatal myasthenia gravis
  391651	Glomus tumor
  394532	Multiple acyl-CoA dehydrogenase deficiency, mild type
  397587	Deep dermatophytosis
  397593	Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
  397615	Obesity due to CEP19 deficiency
  397618	Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome
  397946	Autosomal spastic paraplegia type 58
  398058	Squamous cell carcinoma of the penis
  398147	Persistent idiopathic facial pain
  398987	Malignant teratoma of ovary
  399175	Traumatic avascular necrosis
  399808	Male infertility with teratozoospermia due to single gene mutation
  401764	Pancytopenia-developmental delay syndrome
  401780	Autosomal recessive spastic paraplegia type 61
  401840	Autosomal recessive spastic paraplegia type 71
  401911	AXIN2-related attenuated familial adenomatous polyposis
  401920	Fibrolamellar hepatocellular carcinoma
  401945	Moyamoya disease with early-onset achalasia
  402823	Hepatitis delta
  404437	Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
  404448	ADNP syndrome
  404521	Spinal muscular atrophy with respiratory distress type 2
  404546	DITRA
  411641	Ocular cystinosis
  411696	Proton-pump inhibitor-responsive esophageal eosinophilia
  411709	Renal agenesis
  411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
  412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency
  412217	Dystonia-aphonia syndrome
  418951	Undifferentiated carcinoma of esophagus
  420702	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  423384	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
  423461	Mucolipidosis type III alpha/beta
  424073	Serous cystadenocarcinoma of pancreas
  424099	Colobomatous microphthalmia-rhizomelic dysplasia syndrome
  435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y
  435819	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation
  436166	Periodic fever-infantile enterocolitis-autoinflammatory syndrome
  436274	Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
  438207	Severe autosomal recessive macrothrombocytopenia
  438266	Progressive encephalomyelitis with rigidity and myoclonus
  439196	Zinc-responsive necrolytic acral erythema
  439218	KCNQ2-related epileptic encephalopathy
  440233	Congenital abducens nerve palsy
  441447	Early-onset posterior subcapsular cataract
  444013	Combined oxidative phosphorylation defect type 23
  444092	Autoimmune interstitial lung disease-arthritis syndrome
  445062	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
  445110	Limb-girdle muscular dystrophy due to POMK deficiency
  447961	Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
  448251	Progressive autosomal recessive ataxia-deafness syndrome
  449285	Snakebite envenomation
  449400	IgG4-related aortitis
  450322	Polyclonal hyperviscosity syndrome
  454723	Endometrioid carcinoma of ovary
  454750	Isolated tracheoesophageal fistula
  29	Mevalonic aciduria
  39	Acromelanosis
  43	X-linked adrenoleukodystrophy
  45	Adenosine monophosphate deaminase deficiency
  46	Adenylosuccinate lyase deficiency
  47	X-linked agammaglobulinemia
  56	Alkaptonuria
  63	Alport syndrome
  70	Proximal spinal muscular atrophy
  83	Antley-Bixler syndrome
  87	Apert syndrome
  109	Bannayan-Riley-Ruvalcaba syndrome
  111	Barth syndrome
  115	Congenital contractural arachnodactyly
  142	Anaplastic thyroid carcinoma
  456318	Hereditary sensory neuropathy-deafness-dementia syndrome
  457050	Autosomal dominant mitochondrial myopathy with exercise intolerance
  457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
  458718	Idiopathic spontaneous coronary artery dissection
  458785	Partially involuting congenital hemangioma
  459051	Spondyloepiphyseal dysplasia, Stanescu type
  464738	Basel-Vanagaite-Smirin-Yosef syndrome
  466026	Class I glucose-6-phosphate dehydrogenase deficiency
  466926	Seizures-scoliosis-macrocephaly syndrome
  466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy
  468641	Chronic enteropathy associated with SLCO2A1 gene
  468678	White-Sutton syndrome
  476113	Combined immunodeficiency due to TFRC deficiency
  476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
  477749	Pontine autosomal dominant microangiopathy with leukoencephalopathy
  480491	MYO5B-related progressive familial intrahepatic cholestasis
  482601	Adenylosuccinate synthetase-like 1-related distal myopathy
  494451	Vulvar basal cell carcinoma
  494454	Vulvar adenocarcinoma
  494550	Squamous cell carcinoma of the larynx
  495274	Charcot-Marie-Tooth disease type 2T
  495879	Congenital agenesis of the scrotum
  496686	Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome
  498497	Short rib-polydactyly syndrome type 5
  499085	Chronic relapsing inflammatory optic neuropathy
  499103	Recurrent idiopathic neuroretinitis
  500135	Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
  500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
  502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
  502430	Metopic ridging-ptosis-facial dysmorphism syndrome
  505395	Ventilator-induced diaphragmatic dysfunction
  506090	Serotonin-producing neuroendocrine tumor of pancreas
  506358	Gabriele-de Vries syndrome
  519388	Autosomal recessive anterior segment dysgenesis
  519404	Optic disc pit
  521258	Xq25 microduplication syndrome
  521426	PLAA-associated neurodevelopmental disorder
  521450	LAMA5-related multisystemic syndrome
  522037	Primary autoimmune enteropathy
  529977	Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome
  530838	KRT1-related diffuse nonepidermolytic keratoderma
  530983	Lamb-Shaffer syndrome
  535453	Familial lipase maturation factor 1 deficiency
  536471	Spondylodysplastic Ehlers-Danlos syndrome
  538934	X-linked lymphoproliferative disease due to XIAP deficiency
  542310	Leukoencephalopathy with calcifications and cysts
  542592	Necrobiosis lipoidica
  542657	Isolated hyperchlorhidrosis
  544482	Infection-related hemolytic uremic syndrome
  544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
  544503	RNF13-related severe early-onset epileptic encephalopathy
  555877	FLNA-related X-linked myxomatous valvular dysplasia
  561854	FOXG1 syndrome
  562509	Heme oxygenase-1 deficiency
  562559	Anterior maxillary protrusion-strabismus-intellectual disability syndrome
  562569	TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome
  563690	Furuncular myiasis due to Cordylobia rodhaini
  145	Hereditary breast and/or ovarian cancer syndrome
  154	Familial isolated dilated cardiomyopathy
  169	Ringed hair disease
  170	Woolly hair
  173	Cholera
  185	Scimitar syndrome
  186	Primary biliary cholangitis
  195	Cat-eye syndrome
  235	Dubowitz syndrome
  249	Fibrous dysplasia of bone
  280	Wolf-Hirschhorn syndrome
  295	Fetal parvovirus syndrome
  297	Tick-borne encephalitis
  302	Epidermodysplasia verruciformis
  317	Erythrokeratodermia variabilis
  330	Congenital factor XII deficiency
  335	Congenital fibrinogen deficiency
  342	Familial Mediterranean fever
  343	Hyperimmunoglobulinemia D with periodic fever
  348	Fructose-1,6-bisphosphatase deficiency
  349	Fucosidosis
  366	Glycogen storage disease due to glycogen debranching enzyme deficiency
  368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency
  371	Glycogen storage disease due to muscle phosphofructokinase deficiency
  386	Hepatic cystic hamartoma
  392	Holt-Oram syndrome
  401	Hymenolepiasis
  404	Familial hyperaldosteronism type II
  405	Familial hypocalciuric hypercalcemia
  416	Primary hyperoxaluria
  422	Idiopathic/heritable pulmonary arterial hypertension
  429	Hypochondroplasia
  465	Congenital plasminogen activator inhibitor type 1 deficiency
  469	Hereditary fructose intolerance
  486	Autosomal dominant severe congenital neutropenia
  490	Omphalomesenteric cyst
  502	Trichorhinophalangeal syndrome type 2
  510	Lesch-Nyhan syndrome
  537	Toxic epidermal necrolysis
  558	Marfan syndrome
  560	Marshall syndrome
  561	Marshall-Smith syndrome
  572	Immunodeficiency by defective expression of MHC class II
  577	Mucolipidosis type III
  587	Muir-Torre syndrome
  589	Myasthenia gravis
  592	Macrophagic myofasciitis
  600	Vocal cord and pharyngeal distal myopathy
  602	GNE myopathy
  609	Tibial muscular dystrophy
  611	Inclusion body myositis
  621	Hereditary methemoglobinemia
  629	Short stature due to growth hormone qualitative anomaly
  643	Giant axonal neuropathy
  650	LCAT deficiency
  654	Nephroblastoma
  661	Congenital central hypoventilation syndrome
  667	Autosomal recessive malignant osteopetrosis
  701	Alopecia universalis
  716	Phenylketonuria
  727	Microscopic polyangiitis
  735	Porokeratosis of Mibelli
  741	Familial mitral valve prolapse
  566393	Acute mast cell leukemia
  566847	Aprosencephaly/atelencephaly spectrum
  566852	Atelencephaly
  567502	B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome
  567552	Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy
  569290	Multiple mitochondrial dysfunctions syndrome type 6
  572385	Brachydactyly type B1
  576278	SATB2-associated syndrome
  580572	Intraductal tubulopapillary neoplasm of pancreas
  580940	QRICH1-related intellectual disability-chondrodysplasia syndrome
  580951	Punctate inner choroidopathy
  583612	Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency
  585877	B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality
  585956	B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)
  589522	Spinocerebellar ataxia type 46
  589595	Mixed phenotype acute leukemia with t(v;11q23.3)
  592894	Acute disseminated encephalomyelitis with anti-MOG antibodies
  596448	IgG4-related systemic disease
  596937	Portosinusoidal vascular disease
  596941	Incomplete septal cirrhosis
  597623	IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome
  597939	Euthyroid dysprealbuminemic hyperthyroxinemia
  600731	Clark-Baraitser syndrome
  601013	Non-syndromic anorectal malformation with pouch colon
  611216	Aplastic anemia-intellectual disability-dwarfism syndrome
  611223	EN1-related dorsoventral syndrome
  613267	Pontocerebellar hypoplasia type 13
  615983	Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation
  617301	Selective intrauterine growth restriction
  619948	Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome
  619972	CADINS disease
  620113	Non-syndromic unilambdoid craniosynostosis
  620205	Non-syndromic bicoronal and sagittal craniosynostosis
  620212	Non-syndromic pansynostosis
  623626	Paraneoplastic cerebellar degeneration
  624178	Non-specific autoimmune supratentorial encephalitis without characteristic antibodies
  624268	Non-specific autoimmune cerebellar ataxia without characteristic antibodies
  631248	Mitchell Syndrome
  633024	SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome
  641350	Immunotherapy induced hypophysitis
  641829	Neonatal compartment syndrome
  645188	Spinal dermal sinus
  645310	Fibroneural non-saccular limited dorsal myeloschisis
  645350	Segmental arterial mediolysis
  645383	True myelomeningocele
  645854	Multifocal tuberculosis
  647815	Keratoendotheliitis fugax hereditaria
  649029	Isolated left bronchial isomerism
  650097	Genetic central precocious puberty in male
  778	Rett syndrome
  791	Retinitis pigmentosa
  819	Smith-Magenis syndrome
  826	Sporotrichosis
  828	Stickler syndrome
  834	Free sialic acid storage disease
  881	Turner syndrome
  897	Waardenburg-Shah syndrome
  906	Wiskott-Aldrich syndrome
  950	Acrodysostosis
  984	Pulmonary agenesis
  994	Fetal akinesia deformation sequence
  999	Ermine phenotype
  1020	Early-onset autosomal dominant Alzheimer disease
  1023	Congenital generalized hypertrichosis, Ambras type
  1059	Blue rubber bleb nevus
  1083	Microlissencephaly
  1084	Isolated lissencephaly type 1 without known genetic defects
  1144	Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
  1202	Larynx atresia
  1226	Bamforth-Lazarus syndrome
  1229	Congenital intrauterine infection-like syndrome
  1248	Maxillonasal dysplasia
  1262	Böök syndrome
  1267	Botulism
  1277	Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
  1305	Feingold syndrome
  1307	Distal limb deficiencies-micrognathia syndrome
  1318	Campomelia, Cumming type
  1340	Cardiofaciocutaneous syndrome
  1345	Cardiomyopathy-cataract-hip spine disease syndrome
  1354	Heart defects-limb shortening syndrome
  1383	Cataract-deafness-hypogonadism syndrome
  1390	Night blindness-skeletal anomalies-dysmorphism syndrome
  1394	Cerebrofaciothoracic dysplasia
  1416	Familial calcium pyrophosphate deposition
  1444	Ring chromosome 20 syndrome
  1449	Ring chromosome 7 syndrome
  1459	Celiac disease-epilepsy-cerebral calcification syndrome
  1465	Coffin-Siris syndrome
  1484	Contractures-ectodermal dysplasia-cleft lip/palate syndrome
  1489	Whooping cough
  1509	Coxopodopatellar syndrome
  1519	SPECC1L-related hypertelorism syndrome
  1521	Craniofrontonasal dysplasia-Poland anomaly syndrome
  1546	Cryptococcosis
  1547	Cryptomicrotia-brachydactyly-excess fingertip arch syndrome
  1560	Cysticercosis
  1574	Retinal degeneration-nanophthalmos-glaucoma syndrome
  1621	3q13 microdeletion syndrome
  1658	Absence of fingerprints-congenital milia syndrome
  1661	X-linked corneal dermoid
  1665	Sporadic fetal brain disruption sequence
  1676	Idiopathic pulmonary artery dilatation
  1686	Cardiac diverticulum
  1702	Non-distal duplication 13q
  1703	Mosaic trisomy 14
  1705	Distal duplication 14q
  1738	Trisomy 4p
  1745	Distal duplication 6p
  1752	Trisomy 8q
  1762	Proximal Xq28 duplication syndrome
  1778	Facial dysmorphism-shawl scrotum-joint laxity syndrome
  1784	Acrofrontofacionasal dysostosis
  1787	Acrofacial dysostosis, Palagonia type
  1794	Oculomaxillofacial dysostosis
  1803	Thoracomelic dysplasia
  1806	Ectodermal dysplasia-blindness syndrome
  1810	Autosomal dominant hypohidrotic ectodermal dysplasia
  1832	Lethal osteosclerotic bone dysplasia
  1839	Hereditary mucoepithelial dysplasia
  1856	Spondyloperipheral dysplasia-short ulna syndrome
  1879	Melorheostosis with osteopoikilosis
  1914	Vitamin K antagonist embryofetopathy
  1927	Emery-Nelson syndrome
  1943	Early-onset progressive encephalopathy with migrant continuous myoclonus
  2016	Cleft palate-lateral synechia syndrome
  2023	Undifferentiated pleomorphic sarcoma
  2038	Pulmonary arteriovenous malformation
  2044	Floating-Harbor syndrome
  2057	Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
  2069	Gastrocutaneous syndrome
  2075	Genitopalatocardiac syndrome
  2077	German syndrome
  2098	Acromesomelic dysplasia, Grebe type
  2102	GTP cyclohydrolase I deficiency
  2116	Hartnup disease
  2122	Kaposiform hemangioendothelioma
  2128	Isolated hemihyperplasia
  2143	Donnai-Barrow syndrome
  2169	Methylcobalamin deficiency type cblE
  2177	Hydranencephaly
  2211	Hypertelorism-hypospadias-polysyndactyly syndrome
  2215	Multiple pterygium-malignant hyperthermia syndrome
  2221	Acquired hypertrichosis lanuginosa
  2232	Primary hypergonadotropic hypogonadism-partial alopecia syndrome
  2233	Hypogonadism-mitral valve prolapse-intellectual disability syndrome
  2248	Hypoplastic left heart syndrome
  2251	Thumb deformity-alopecia-pigmentation anomaly syndrome
  2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
  2257	Primary pulmonary hypoplasia
  2261	Hypospadias-intellectual disability, Goldblatt type syndrome
  2268	ICF syndrome
  2291	Congenital velopharyngeal incompetence
  2309	Pachyonychia congenita
  2310	Absence deformity of leg-cataract syndrome
  2311	Autosomal recessive spondylocostal dysostosis
  2319	Juberg-Hayward syndrome
  2329	Karsch-Neugebauer syndrome
  2340	Keratosis follicularis spinulosa decalvans
  2345	Isolated Klippel-Feil syndrome
  2363	Lacrimoauriculodentodigital syndrome
  2374	Congenital laryngeal web
  2387	Leukonychia totalis
  2398	Multiple symmetric lipomatosis
  2404	Loiasis
  2430	Congenital macroglossia
  2439	Patterson-Stevenson-Fontaine syndrome
  2451	Mucocutaneous venous malformations
  2461	Marden-Walker syndrome
  2475	White forelock with malformations
  2484	Melnick-Needles syndrome
  2491	Müllerian duct anomalies-limb anomalies syndrome
  2495	Meningioma
  2498	Syndactyly type 8
  2514	Autosomal dominant primary microcephaly
  2516	Microcephaly-cardiac defect-lung malsegmentation syndrome
  2522	Microcephaly-cervical spine fusion anomalies syndrome
  2538	Microgastria-limb reduction defect syndrome
  2549	Oculoauriculovertebral spectrum with radial defects
  2571	X-linked immunoneurologic disorder
  2572	Spastic ataxia-corneal dystrophy syndrome
  2575	Cystic fibrosis-gastritis-megaloblastic anemia syndrome
  2585	Ataxia-pancytopenia syndrome
  2596	Myopathy and diabetes mellitus
  2597	Mitochondrial myopathy-lactic acidosis-deafness syndrome
  2658	Lenz-Majewski hyperostotic dwarfism
  2666	Adult familial nephronophthisis-spastic quadriparesia syndrome
  2697	Arthrogryposis-renal dysfunction-cholestasis syndrome
  2700	Noma
  2701	Noonan syndrome-like disorder with loose anagen hair
  2710	Oculodentodigital dysplasia
  2713	Oculoosteocutaneous syndrome
  2719	Oculocerebral hypopigmentation syndrome, Cross type
  2732	Olivopontocerebellar atrophy-deafness syndrome
  2736	Lethal omphalocele-cleft palate syndrome
  2746	Opsismodysplasia
  2759	Imperforate oropharynx-costovertebral anomalies syndrome
  2771	Bruck syndrome
  2786	Osteoporosis-oculocutaneous hypopigmentation syndrome
  2795	Fowler urethral sphincter dysfunction syndrome
  2798	Pachygyria-intellectual disability-epilepsy syndrome
  2820	Spastic paraplegia-nephritis-deafness syndrome
  2822	Autosomal recessive spastic paraplegia type 11
  2825	PARC syndrome
  2841	Familial benign chronic pemphigus
  2850	Alopecia-intellectual disability syndrome
  2865	Short stature-webbed neck-heart disease syndrome
  2871	Pfeiffer-Palm-Teller syndrome
  2880	Phosphoenolpyruvate carboxykinase deficiency
  2886	TARP syndrome
  2889	Pili torti
  2890	Pili torti-onychodysplasia syndrome
  2901	Neuralgic amyotrophy
  2903	Familial spontaneous pneumothorax
  2919	Orofaciodigital syndrome type 5
  2930	Cronkhite-Canada syndrome
  2935	Crossed polysyndactyly
  2946	Brachydactyly-long thumb syndrome
  2965	Prolactinoma
  2978	Chronic intestinal pseudoobstruction
  2988	Pterygium colli-intellectual disability-digital anomalies syndrome
  2990	Autosomal recessive multiple pterygium syndrome
  3004	Mirror polydactyly-vertebral segmentation-limbs defects syndrome
  3005	Pyle disease
  3044	Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
  3047	Blepharophimosis-intellectual disability syndrome, SBBYS type
  3085	Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
  3092	Fixed subaortic stenosis
  3095	Atypical Rett syndrome
  3121	Ruvalcaba syndrome
  3137	Alpha-N-acetylgalactosaminidase deficiency
  3172	Eyebrow duplication-syndactyly syndrome
  3202	Dehydrated hereditary stomatocytosis
  3219	Fountain syndrome
  3230	Deafness-oligodontia syndrome
  3248	Distal symphalangism
  3255	Filippi syndrome
  3275	Spondylocarpotarsal synostosis
  3282	Multifocal atrial tachycardia
  3291	Teebi-Shaltout syndrome
  3301	Tetraamelia-multiple malformations syndrome
  3304	Fallot complex-intellectual disability-growth delay syndrome
  3341	Torticollis-keloids-cryptorchidism-renal dysplasia syndrome
  3344	Weismann-Netter syndrome
  3348	Tracheobronchopathia osteochondroplastica
  3353	Trichodermodysplasia-dental alterations syndrome
  3368	Trigonocephaly-bifid nose-acral anomalies syndrome
  3378	Trisomy 13
  3392	Tularemia
  3409	Urban-Rogers-Meyer syndrome
  3411	Double uterus-hemivagina-renal agenesis syndrome
  3416	Hyperostosis corticalis generalisata
  3453	Autoimmune polyendocrinopathy type 1
  3455	Wiedemann-Rautenstrauch syndrome
  26790	Pseudomyxoma peritonei
  26792	Short chain acyl-CoA dehydrogenase deficiency
  31204	Nocardiosis
  31825	Methanol poisoning
  33067	Metaphyseal chondrodysplasia, Jansen type
  33069	Dravet syndrome
  33314	Jessner lymphocytic infiltration of the skin
  33574	Glutamate-cysteine ligase deficiency
  34514	Telethonin-related limb-girdle muscular dystrophy R7
  35093	Non-syndromic sagittal craniosynostosis
  35858	Imerslund-Gräsbeck syndrome
  36234	Bacterial toxic-shock syndrome
  36238	Staphylococcal necrotizing pneumonia
  36355	Bleeding disorder due to P2Y12 defect
  36397	Adiposis dolorosa
  42775	PHACE syndrome
  47045	Familial cold urticaria
  48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome
  48736	Embryonal carcinoma of the central nervous system
  52047	Braddock syndrome
  52056	Ulnar/fibula ray defect-brachydactyly syndrome
  52530	Pseudo-von Willebrand disease
  52901	Isolated follicle stimulating hormone deficiency
  53271	Muenke syndrome
  53696	Arthrogryposis-anterior horn cell disease syndrome
  54057	Thrombotic thrombocytopenic purpura
  54260	Left ventricular noncompaction
  54595	Craniopharyngioma
  57145	SUNCT syndrome
  58017	Classic hairy cell leukemia
  58040	Osteoblastoma
  59135	Laing early-onset distal myopathy
  60033	Idiopathic bronchiectasis
  64542	Acrofacial dysostosis, Kennedy-Teebi type
  64692	Oroya fever
  64720	Leiomyosarcoma
  64743	Hepatoportal sclerosis
  65250	Perineural cyst
  65284	Biotin-thiamine-responsive basal ganglia disease
  65682	Benign recurrent intrahepatic cholestasis
  65720	Arthrogryposis-severe scoliosis syndrome
  66625	Cerebrooculonasal syndrome
  66631	CEDNIK syndrome
  69125	Anonychia with flexural pigmentation
  69745	Warty dyskeratoma
  71275	Rh deficiency syndrome
  71505	Cancer-associated retinopathy
  71518	Benign paroxysmal torticollis of infancy
  73246	Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
  75377	Central areolar choroidal dystrophy
  75840	Congenital muscular dystrophy, Ullrich type
  77300	Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
  79086	Acquired generalized lipodystrophy
  79097	Folinic acid-responsive seizures
  79099	Interstitial granulomatous dermatitis with arthritis
  79102	Thyrotoxic periodic paralysis
  79105	Myxofibrosarcoma
  79124	Hepatic veno-occlusive disease-immunodeficiency syndrome
  79157	2-methylbutyryl-CoA dehydrogenase deficiency
  79242	Holocarboxylase synthetase deficiency
  79243	Pyruvate dehydrogenase E1-alpha deficiency
  79253	Mild phenylketonuria
  79273	Hereditary coproporphyria
  79279	Alpha-N-acetylgalactosaminidase deficiency type 1
  79302	Congenital bile acid synthesis defect type 3
  79305	Progressive familial intrahepatic cholestasis type 3
  79306	Progressive familial intrahepatic cholestasis type 1
  79318	PMM2-CDG
  79319	MPI-CDG
  79326	ALG2-CDG
  79328	ALG9-CDG
  79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
  79395	Keratoderma hereditarium mutilans with ichthyosis
  79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form
  79502	Punctate palmoplantar keratoderma type 2
  83450	Regional odontodysplasia
  83461	Congenital primary aphakia
  83483	La Crosse encephalitis
  83484	St. Louis encephalitis
  83600	Encephalitis lethargica
  83620	Enteric anendocrinosis
  83628	LUMBAR syndrome
  84081	Senior-Boichis syndrome
  84132	Desmin-related myopathy with Mallory body-like inclusions
  84142	Isaacs syndrome
  85166	Platyspondylic dysplasia, Torrance type
  85186	Endosteal sclerosis-cerebellar hypoplasia syndrome
  85198	Dysspondyloenchondromatosis
  85202	Keutel syndrome
  85203	Acropectoral syndrome
  85274	Syndromic X-linked intellectual disability 7
  85276	X-linked intellectual disability, Armfield type
  85325	X-linked intellectual disability, Stevenson type
  86309	DPAGT1-CDG
  86788	X-linked severe congenital neutropenia
  86820	Familial avascular necrosis of femoral head
  86850	Myeloid sarcoma
  86871	T-cell prolymphocytic leukemia
  86885	Primary cutaneous peripheral T-cell lymphoma not otherwise specified
  86904	Methotrexate-associated lymphoproliferative disorders
  86909	Myoclonic epilepsy of infancy
  88621	Ichthyosis-prematurity syndrome
  88633	Superior limbic keratoconjunctivitis
  88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
  88918	Autosomal dominant Alport syndrome
  88924	Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
  90024	Deafness with labyrinthine aplasia, microtia, and microdontia
  90059	Sudden sensorineural hearing loss
  90080	Scarring in glaucoma filtration surgical procedures
  90118	Severe early-onset axonal neuropathy due to MFN2 deficiency
  90321	Cockayne syndrome type 1
  90324	Cockayne syndrome type 3
  90354	Brittle cornea syndrome
  90398	Localized lichen myxedematosus with mixed features of different subtypes
  90636	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
  90653	Stickler syndrome type 1
  90695	Non-acquired panhypopituitarism
  90797	Partial androgen insensitivity syndrome
  91127	Adenovirus infection in immunocompromised patients
  91132	Ichthyosis-hypotrichosis syndrome
  91139	Simple cryoglobulinemia
  91347	TSH-secreting pituitary adenoma
  93297	Hypochondrogenesis
  93316	Spondylometaphyseal dysplasia, Schmidt type
  93317	Spondylometaphyseal dysplasia, Sedaghatian type
  93323	Fibular hemimelia
  93333	Pelviscapular dysplasia
  93337	Polydactyly of an index finger
  93383	Brachydactyly type B
  93398	Genochondromatosis type 2
  93474	Scheie syndrome
  93560	AApoAI amyloidosis
  93561	ALys amyloidosis
  93585	Immune-mediated thrombotic thrombocytopenic purpura
  93589	Late-onset nephronophthisis
  93591	Infantile nephronophthisis
  93592	Juvenile nephronophthisis
  93612	Cystinuria type A
  93921	Full schwannomatosis
  93926	Midline interhemispheric variant of holoprosencephaly
  93940	Laryngotracheoesophageal cleft type 3
  94066	Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia
  94090	Pseudohypoparathyroidism type 2
  94150	Anonychia congenita totalis
  95232	Lissencephaly due to LIS1 mutation
  95429	Angioma serpiginosum
  95474	Double-orifice mitral valve
  95713	Athyreosis
  95715	Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies
  95716	Familial thyroid dyshormonogenesis
  96059	Mosaic trisomy 4
  96095	3q26 microduplication syndrome
  96173	Ring chromosome 9 syndrome
  96180	Maternal uniparental disomy of chromosome 4
  96181	Maternal uniparental disomy of chromosome 6
  96187	Maternal uniparental disomy of chromosome 21
  96190	Paternal uniparental disomy of chromosome 5
  96201	X small rings
  96253	Cushing disease
  97240	Zebra body myopathy
  97261	GRFoma
  97278	PPoma
  97280	Glucagonoma
  97283	Somatostatinoma
  97290	Familial papillary thyroid carcinoma with renal papillary neoplasia
  97338	Melanoma of soft tissue
  97352	Pellagra
  97360	Robinow syndrome
  97564	Pauci-immune glomerulonephritis without ANCA
  98673	Autosomal dominant optic atrophy, classic form
  98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
  98757	Spinocerebellar ataxia type 3
  98761	Spinocerebellar ataxia type 10
  98816	Benign childhood occipital epilepsy, Gastaut type
  98833	Acute myeloblastic leukemia without maturation
  98834	Acute myeloblastic leukemia with maturation
  98835	Acute undifferentiated leukemia
  98855	Autosomal recessive Emery-Dreifuss muscular dystrophy
  98856	Charcot-Marie-Tooth disease type 2B1
  98870	Congenital dyserythropoietic anemia type III
  98879	Hemophilia B
  98886	Bleeding diathesis due to integrin alpha2-beta1 deficiency
  98889	Bilateral perisylvian polymicrogyria
  98918	Acute motor axonal neuropathy
  98956	Epithelial basement membrane dystrophy
  98971	Posterior amorphous corneal dystrophy
  98977	Juvenile glaucoma
  98984	Pulverulent cataract
  98992	Early-onset partial cataract
  99027	Adult-onset autosomal dominant leukodystrophy
  99070	Aorto-right ventricular tunnel
  99071	Aorto-left ventricular tunnel
  99078	Neuhauser anomaly
  99083	Pulmonary artery hypoplasia
  99111	Persistent left superior vena cava connecting to the roof of left-sided atrium
  99117	Coronary sinus stenosis
  99119	Right inferior vena cava connecting to left-sided atrium
  99122	Congenital stenosis of the inferior vena cava
  99124	Congenital partial pulmonary venous return anomaly
  99131	Pleuro-pericardial cyst
  99169	Epiblepharon
  99176	Congenital eyelid retraction
  99330	49,XYYYY syndrome
  99701	Mesial temporal lobe epilepsy with hippocampal sclerosis
  99731	Isolated sulfite oxidase deficiency
  99791	Dentin dysplasia type II
  99798	Oligodontia
  99807	PEHO-like syndrome
  99825	Nipah virus disease
  99846	Autosomal dominant myoglobinuria
  99852	Ravine syndrome
  99856	Primary syringomyelia
  99858	Idiopathic syringomyelia
  99861	Precursor T-cell acute lymphoblastic leukemia
  99886	Transient neonatal diabetes mellitus
  99887	Acute megakaryoblastic leukemia in Down syndrome
  99906	Farmer's lung disease
  99919	Staphylococcal toxic-shock syndrome
  99922	Ocular cicatricial pemphigoid
  99927	Hydatidiform mole
  99933	Pleuropulmonary blastoma type 1
  99943	Autosomal dominant Charcot-Marie-Tooth disease type 2J
  99960	Benign recurrent intrahepatic cholestasis type 1
  99966	Atypical teratoid rhabdoid tumor
  99977	Squamous cell carcinoma of the esophagus
  99981	Apnea of prematurity
  99994	Complex regional pain syndrome type 2
  100031	Hypoplastic amelogenesis imperfecta
  100043	Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
  100044	Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
  100069	Semantic dementia
  100083	Laryngeal neuroendocrine tumor
  100976	Bathing suit ichthyosis
  100995	Autosomal recessive spastic paraplegia type 14
  100999	Autosomal dominant spastic paraplegia type 19
  101000	Autosomal recessive spastic paraplegia type 20
  101029	Sub-cortical nodular heterotopia
  101039	Female restricted epilepsy with intellectual disability
  101351	Familial isolated congenital asplenia
  101932	Anomaly of the mitral subvalvular apparatus
  137622	Intractable diarrhea-choanal atresia-eye anomalies syndrome
  137754	Neurological conditions associated with aminoacylase 1 deficiency
  137932	Congenital laryngeal palsy
  139396	X-linked cerebral adrenoleukodystrophy
  139399	Adrenomyeloneuropathy
  139447	Progressive cavitating leukoencephalopathy
  139507	Dietary iron overload disease
  139512	Neuropathy with hearing impairment
  139525	Distal hereditary motor neuropathy type 2
  140896	Severe acute respiratory syndrome
  140949	Low-flow priapism
  140969	Saldino-Mainzer syndrome
  141030	Third branchial cleft anomaly
  141061	Commissural lip fistula
  141091	Polyrrhinia
  155889	Coloboma of inferior eyelid
  158684	Epidermolysis bullosa simplex with pyloric atresia
  158778	Isolated bone marrow mastocytosis
  163654	Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome
  163668	Spondyloepiphyseal dysplasia, MacDermot type
  163684	Leukoencephalopathy-dystonia-motor neuropathy syndrome
  163693	2p21 microdeletion syndrome
  163921	Posttransplant acute limbic encephalitis
  163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type
  163979	X-linked intellectual disability-craniofacioskeletal syndrome
  165805	Familial mesial temporal lobe epilepsy with febrile seizures
  166011	Multiple epiphyseal dysplasia, Beighton type
  166078	Von Willebrand disease type 1
  166096	Von Willebrand disease type 3
  166265	Dentinogenesis imperfecta type 3
  166409	Photosensitive epilepsy
  166412	Hot water reflex epilepsy
  166433	Reading seizures
  168552	Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome
  168555	Spondylometaphyseal dysplasia, A4 type
  168572	Native American myopathy
  168593	Sudden infant death-dysgenesis of the testes syndrome
  168811	Malignant peritoneal mesothelioma
  168999	Malignant melanoma of the mucosa
  169079	Cernunnos-XLF deficiency
  169090	Combined immunodeficiency due to CRAC channel dysfunction
  169100	Immunodeficiency due to CD25 deficiency
  169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
  169464	Primary CD59 deficiency
  171617	Autosomal dominant spastic paraplegia type 38
  171703	Microcephaly-polymicrogyria-corpus callosum agenesis syndrome
  177910	Prader-Willi syndrome due to imprinting mutation
  177926	Bleeding disorder in hemophilia A carriers
  178333	Åland Islands eye disease
  178338	UV-sensitive syndrome
  178469	Autosomal dominant non-syndromic intellectual disability
  178475	Wound botulism
  178528	Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma
  178536	Primary cutaneous marginal zone B-cell lymphoma
  180182	Supernumerary breasts
  180188	Isolated congenital breast hypoplasia/aplasia
  183678	Hermansky-Pudlak syndrome due to AP-3 deficiency
  199260	Calcifying aponeurotic fibroma
  199276	Familial multiple lipomatosis
  199306	Cleft lip/palate
  199310	Tetragametic chimerism
  199326	Isolated autosomal dominant hypomagnesemia, Glaudemans type
  199337	Pancreatic insufficiency-anemia-hyperostosis syndrome
  199348	Thiamine-responsive encephalopathy
  206484	Gonadoblastoma
  206538	Malignant non-dysgerminomatous germ cell tumor of ovary
  206559	POMT2-related limb-girdle muscular dystrophy R14
  206569	Immune-mediated necrotizing myopathy
  206594	Subacute inflammatory demyelinating polyneuropathy
  208989	Non-paraneoplastic sensory ganglionopathy
  209919	Idiopathic copper-associated cirrhosis
  209943	IRVAN syndrome
  209964	Solitary rectal ulcer syndrome
  209981	IRIDA syndrome
  210110	Intermediate osteopetrosis
  211017	Spinocerebellar ataxia type 30
  211067	Episodic ataxia type 5
  213605	Carcinofibroma of the corpus uteri
  213630	Primitive neuroectodermal tumor of the corpus uteri
  213787	Carcinosarcoma of the cervix uteri
  213807	Leiomyosarcoma of the cervix uteri
  213812	Primitive neuroectodermal tumor of the cervix uteri
  213828	Adenoid basal carcinoma of the cervix uteri
  216804	Osteogenesis imperfecta type 2
  216873	Atypical pantothenate kinase-associated neurodegeneration
  216978	Niemann-Pick disease type C, late infantile neurologic onset
  217253	NMDA receptor encephalitis
  217346	19q13.11 microdeletion syndrome
  217656	Familial isolated arrhythmogenic right ventricular dysplasia
  220407	Limited systemic sclerosis
  221083	Hemifacial spasm
  221117	Gerstmann syndrome
  226313	Congenital hypothyroidism due to maternal intake of antithyroid drugs
  228000	Idiopathic CD4 lymphocytopenia
  228272	Primary anetoderma
  228329	CLN1 disease
  228387	Spondylo-megaepiphyseal-metaphyseal dysplasia
  231013	Congenital trigeminal anesthesia
  231130	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
  231154	Combined immunodeficiency due to partial RAG1 deficiency
  231632	Ectopic aldosterone-producing tumor
  231671	Isolated growth hormone deficiency type IB
  238642	Primary megaureter, adult-onset form
  238646	Congenital primary megaureter, obstructed form
  244283	Biliary atresia with splenic malformation syndrome
  247676	Adult hypophosphatasia
  251061	7q31 microdeletion syndrome
  251332	Unexplained long-lasting fever/inflammatory syndrome
  251347	Ataxia-telangiectasia-like disorder
  251643	Myxopapillary ependymoma
  251671	Angiocentric glioma
  251858	Medulloblastoma with extensive nodularity
  251880	Ependymoblastoma
  251909	Pineoblastoma
  252018	Teratoma of the central nervous system
  254346	19p13.12 microdeletion syndrome
  254531	Temple syndrome due to paternal 14q32.2 hypomethylation
  254688	Complete hydatidiform mole
  254875	Mitochondrial DNA depletion syndrome, myopathic form
  261265	17q12 microdeletion syndrome
  261272	17q12 microduplication syndrome
  261600	Alagille syndrome due to 20p12 microdeletion
  263413	Angiosarcoma
  263524	Acute necrotizing encephalopathy of childhood
  263548	Peeling skin syndrome type A
  263553	Peeling skin syndrome type B
  264978	Drug or radiation exposure-related interstitial lung disease
  268114	RAS-associated autoimmune leukoproliferative disease
  268139	Intraocular medulloepithelioma
  268249	Mycophenolate mofetil embryopathy
  268861	Primary tethered cord syndrome
  268865	Neurenteric cyst
  268980	Isolated focal cortical dysplasia type Ib
  269218	Isolated unilateral hemispheric cerebellar hypoplasia
  275761	Lysosomal acid lipase deficiency
  275766	Idiopathic pulmonary arterial hypertension
  276152	Multiple endocrine neoplasia type 4
  276405	Hyperbiliverdinemia
  276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency
  279894	Toxic maculopathy due to antimalarial drugs
  279914	Intermediate uveitis
  280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16
  280356	PLIN1-related familial partial lipodystrophy
  280379	Erythropoietic uroporphyria associated with myeloid malignancy
  280615	Hemoglobinopathy Toms River
  280832	Congenital pulmonary airway malformation type 1
  281127	Acral self-healing collodion baby
  284362	Fetal lung interstitial tumor
  289307	Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
  289513	12q15q21.1 microdeletion syndrome
  289661	Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly
  289849	Glutathione synthetase deficiency without 5-oxoprolinuria
  289863	Atypical glycine encephalopathy
  289891	Hypermethioninemia due to glycine N-methyltransferase deficiency
  293144	Familial clubfoot due to 5q31 microdeletion
  293173	Acute generalized exanthematous pustulosis
  293181	Malignant migrating focal seizures of infancy
  293199	Pleomorphic rhabdomyosarcoma
  293725	Blepharophimosis-intellectual disability syndrome, Verloes type
  293825	Congenital dyserythropoietic anemia type IV
  293925	Lethal occipital encephalocele-skeletal dysplasia syndrome
  293939	Distal Xq28 microduplication syndrome
  293948	1p21.3 microdeletion syndrome
  293955	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  294415	Renal-hepatic-pancreatic dysplasia
  294967	Amelia of upper limb
  294975	Congenital absence of upper arm and forearm with hand present
  295018	Congenital pseudoarthrosis of the tibia
  295028	Tibio-fibular synostosis
  295034	Congenital knee dislocation
  295047	Macrodactyly of toes
  295189	Zygodactyly type 2
  295195	Synpolydactyly type 1
  300359	PLCG2-associated antibody deficiency and immune dysregulation
  300751	Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
  306558	Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
  306577	Sodium channelopathy-related small fiber neuropathy
  306741	Hemidystonia-hemiatrophy syndrome
  308442	Vitamin B12-responsive methylmalonic acidemia, type cblDv2
  308712	Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
  309111	Combined pancreatic lipase-colipase deficiency
  309147	Hyper-beta-alaninemia
  313920	Epstein-Barr virus-associated gastric carcinoma
  314485	Young adult-onset distal hereditary motor neuropathy
  314575	Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome
  314588	Distal triplication 15q
  314632	ATP13A2-related juvenile neuronal ceroid lipofuscinosis
  314697	Acquired porencephaly
  319287	Multilocular cystic renal neoplasm of low malignant potential
  319298	Papillary renal cell carcinoma
  319308	MiT family translocation renal cell carcinoma
  319589	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
  320360	MT-ATP6-related mitochondrial spastic paraplegia
  320365	Autosomal dominant spastic paraplegia type 36
  320391	Autosomal recessive spastic paraplegia type 46
  324313	9p13 microdeletion syndrome
  324321	Sinoatrial node dysfunction and deafness
  324636	Autoerythrocyte sensitization syndrome
  329249	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
  352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
  352636	Phalangeal microgeodic syndrome
  352654	Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
  353314	Pyruvate carboxylase deficiency, severe neonatal type
  356961	SLC35A2-CDG
  357008	Hemolytic uremic syndrome with DGKE deficiency
  357107	Arterial thoracic outlet syndrome
  357131	Venous thoracic outlet syndrome
  357158	Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome
  357175	Short ulna-dysmorphism-hypotonia-intellectual disability syndrome
  357329	Combined immunodeficiency due to IL21R deficiency
  363989	Familial benign flecked retina
  364055	Severe early-childhood-onset retinal dystrophy
  369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
  369939	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
  370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
  370026	Acute myeloid leukemia with t(8;16)(p11;p13) translocation
  370059	NEVADA syndrome
  370103	Primary dystonia, DYT17 type
  370921	STT3A-CDG
  370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy
  391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
  391417	HSD10 disease
  391457	HSD10 disease, neonatal type
  391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
  391646	Feingold syndrome type 2
  397623	Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
  397927	Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
  397968	Charcot-Marie-Tooth disease type 2R
  398166	Focal facial dermal dysplasia
  398173	Focal facial dermal dysplasia type II
  398189	Focal facial dermal dysplasia type IV
  398971	Clear cell adenocarcinoma of the ovary
  399180	Secondary non-traumatic avascular necrosis
  401785	Autosomal recessive spastic paraplegia type 62
  401805	Autosomal recessive spastic paraplegia type 63
  401815	Autosomal recessive spastic paraplegia type 66
  401835	Autosomal recessive spastic paraplegia type 70
  401859	Lipoic acid synthetase deficiency
  401874	Multiple mitochondrial dysfunctions syndrome type 2
  402020	Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)
  402082	Progressive myoclonic epilepsy type 5
  404454	Alacrimia-choreoathetosis-liver dysfunction syndrome
  404473	Severe intellectual disability-progressive spastic diplegia syndrome
  404507	Chondromyxoid fibroma
  404514	Acquired cystic disease-associated renal cell carcinoma
  404560	Familial atypical multiple mole melanoma syndrome
  411511	Angelman syndrome due to a point mutation
  411703	Pulmonary non-tuberculous mycobacterial infection
  412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
  420259	Secondary pulmonary alveolar proteinosis
  420789	Autoimmune encephalopathy with parasomnia and obstructive sleep apnea
  423454	Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
  423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
  424065	Solid pseudopapillary carcinoma of pancreas
  435660	LIPE-related familial partial lipodystrophy
  436159	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
  436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
  437552	Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
  438213	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
  438274	GCGR-related hyperglucagonemia
  439167	Placental insufficiency
  439254	ITM2B amyloidosis
  440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
  440727	Combined hamartoma of the retina and retinal pigment epithelium
  440987	Isolated agenesis of gallbladder
  443070	Hemicrania continua
  444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
  447737	DOCK2 deficiency
  447788	Cerebral visual impairment
  447896	Tremor-ataxia-central hypomyelination syndrome
  448264	Isolated focal non-epidermolytic palmoplantar keratoderma
  449291	Symptomatic form of fragile X syndrome in female carriers
  449427	IgG4-related pachymeningitis
  453499	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
  454714	Plasma cell leukemia
  8	47,XYY syndrome
  40	Acromesomelic dysplasia, Maroteaux type
  60	Alpha-1-antitrypsin deficiency
  62	Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3
  68	Amoebiasis due to free-living amoebae
  86	Familial abdominal aortic aneurysm
  104	Leber hereditary optic neuropathy
  130	Brugada syndrome
  134	Beta-ketothiolase deficiency
  456312	Infantile multisystem neurologic-endocrine-pancreatic disease
  457088	Predisposition to invasive fungal disease due to CARD9 deficiency
  457185	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  457365	Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome
  458768	Primary intralymphatic angioendothelioma
  458803	Spinocerebellar ataxia type 42
  464366	NEK9-related lethal skeletal dysplasia
  464440	Primary dystonia, DYT27 type
  466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome
  476096	Erythrokeratodermia-cardiomyopathy syndrome
  476394	PMP2-related Charcot-Marie-Tooth disease type 1
  477661	IL21-related infantile inflammatory bowel disease
  477742	Nodular fasciitis
  477857	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  478042	Combined oxidative phosphorylation defect type 30
  478049	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
  480531	Congenital portosystemic shunt
  481662	Familial Chilblain lupus
  481665	USP18 deficiency
  481986	Familial schizencephaly
  485405	16p12.1p12.3 triplication syndrome
  487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
  488642	TELO2-related intellectual disability-neurodevelopmental disorder
  494421	Sacrococcygeal teratoma
  494444	DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
  494541	Childhood-onset benign chorea with striatal involvement
  495818	9q33.3q34.11 microdeletion syndrome
  498485	Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome
  499107	Idiopathic optic perineuritis
  500166	SIN3A-related intellectual disability syndrome due to a point mutation
  500481	Squamous cell carcinoma of salivary glands
  500548	Osteosclerotic metaphyseal dysplasia
  506136	Neuroendocrine neoplasm of esophagus
  508529	Intermediate epidermolysis bullosa simplex with cardiomyopathy
  508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
  512103	Autosomal recessive epidermolytic ichthyosis
  519384	Congenital cystic eye
  519392	Isolated iridoschisis
  521127	Osteoradionecrosis of the mandible
  521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome
  528105	Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome
  529574	Duane retraction syndrome with congenital deafness
  536545	Kyphoscoliotic Ehlers-Danlos syndrome
  541443	Anomalous aortic origin of the left coronary artery
  541454	Anomalous aortic origin of the right coronary artery
  541507	Anomalous origin of coronary artery from the pulmonary artery
  542323	CAR T cell therapy-associated cytokine release syndrome
  544254	SYNGAP1-related developmental and epileptic encephalopathy
  555437	Lymphoplasmacytic inflammatory pseudotumor of the liver
  555874	Congenital tricuspid valve dysplasia
  146	Differentiated thyroid carcinoma
  163	Hereditary hyperferritinemia-cataract syndrome
  167	Chédiak-Higashi syndrome
  171	Primary sclerosing cholangitis
  177	Rhizomelic chondrodysplasia punctata
  181	X-linked hypohidrotic ectodermal dysplasia
  182	Chromomycosis
  214	Cystinuria
  217	Isolated Dandy-Walker malformation
  219	Delta-sarcoglycan-related limb-girdle muscular dystrophy R6
  220	Denys-Drash syndrome
  223	Nephrogenic diabetes insipidus
  225	Maternally-inherited diabetes and deafness
  239	Dyggve-Melchior-Clausen disease
  242	46,XY complete gonadal dysgenesis
  322	Exstrophy-epispadias complex
  333	Farber disease
  340	Hemorrhagic fever-renal syndrome
  361	Familial glucocorticoid deficiency
  379	Chronic granulomatous disease
  393	46,XX testicular difference of sex development
  395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency
  409	Hyperkeratosis lenticularis perstans
  432	Normosmic congenital hypogonadotropic hypogonadism
  436	Hypophosphatasia
  466	Fatal familial insomnia
  477	KID syndrome
  481	Kennedy disease
  483	Congenital high-molecular-weight kininogen deficiency
  503	Larsen syndrome
  508	Leprechaunism
  543	Burkitt lymphoma
  562	McCune-Albright syndrome
  567	22q11.2 deletion syndrome
  579	Mucopolysaccharidosis type 1
  586	Cystic fibrosis
  632	Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
  655	Nephronophthisis
  663	Mitochondrial DNA-related progressive external ophthalmoplegia
  703	Bullous pemphigoid
  721	Gray platelet syndrome
  722	Hypoplasminogenemia
  724	Idiopathic acute eosinophilic pneumonia
  737	Porokeratosis plantaris palmaris et disseminata
  739	Prader-Willi syndrome
  565641	Primary desmosis coli
  565782	Methotrexate toxicity
  566067	CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome
  566943	Mueller-Weiss syndrome
  568056	Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome
  572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus
  572361	Blepharophimosis-ptosis-epicanthus inversus syndrome type 2
  572543	RFVT2-related riboflavin transporter deficiency
  572761	DONSON-related microcephaly-short stature-limb abnormalities spectrum
  575553	Cathepsin A-related arteriopathy-strokes-leukoencephalopathy
  576283	SATB2-associated syndrome due to a pathogenic variant
  583595	Serine biosynthesis pathway deficiency, infantile/juvenile form
  589821	Congenital-onset Steinert myotonic dystrophy
  592564	GNAO1-related developmental delay-seizures-movement disorder spectrum
  595133	Perivascular epithelioid cell neoplasm
  597887	ALPI-related inflammatory bowel disease
  598216	Upper tract urothelial carcinoma
  599485	Acquired hemophilia B
  600952	Non-syndromic anorectal malformation with perineal fistula
  611201	Oculogastrointestinal-neurodevelopmental syndrome
  611256	Pontocerebellar hypoplasia type 12
  617919	F12-associated cold autoinflammatory syndrome
  619979	Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome
  620178	Non-syndromic bilambdoid craniosynostosis
  623615	Autoimmune limbic encephalitis
  633028	CPE-related Prader-Willi-like syndrome
  633228	Proximal femoral focal deficiency
  634492	Mosaic schwannomatosis
  636941	Vascular Ehlers-Danlos-polymicrogyria syndrome
  636945	Invasive Candidiasis
  636970	Autosomal recessive myosin storage myopathy
  637051	Borna virus encephalitis
  641390	PsAPASH syndrome
  645297	Extramedullary conus spinal cord lipoma
  645300	Lipomatous non-saccular limited dorsal myeloschisis
  645613	Classical dermatomyositis
  645814	Primary pulmonary tuberculosis
  645874	Primary genito-urinary tuberculosis
  647676	Multiple epiphyseal dysplasia type 7
  647834	SLC40A1-related hemochromatosis
  648992	Non-syndromic bridging bronchus
  783	Rubinstein-Taybi syndrome
  785	Estrogen resistance syndrome
  796	Sandhoff disease
  799	Schizencephaly
  800	Schwartz-Jampel syndrome
  805	Tuberous sclerosis complex
  809	Mixed connective tissue disease
  813	Silver-Russell syndrome
  824	Primary myelofibrosis
  827	Stargardt disease
  832	Succinyl-CoA:3-oxoacid CoA transferase deficiency
  863	Trichinellosis
  868	Triose phosphate-isomerase deficiency
  870	Down syndrome
  886	Usher syndrome
  890	Hepatic veno-occlusive disease
  893	WAGR syndrome
  898	Wagner disease
  911	Combined immunodeficiency due to ZAP70 deficiency
  921	Abruzzo-Erickson syndrome
  945	Acalvaria
  968	Acromesomelic dysplasia, Hunter-Thompson type
  971	Acrorenal syndrome
  983	Testicular regression syndrome
  1021	Amaurosis-hypertrichosis syndrome
  1040	Metaphyseal anadysplasia
  1054	Aneurysm of sinus of Valsalva
  1055	Congenital left ventricular aneurysm
  1067	Aniridia-ptosis-intellectual disability-familial obesity syndrome
  1077	Dental ankylosis
  1110	Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
  1122	Ulnar hypoplasia-split foot syndrome
  1145	Infantile-onset X-linked spinal muscular atrophy
  1149	Kuskokwim syndrome
  1150	Arthrogryposis multiplex congenita-whistling face syndrome
  1170	Autosomal recessive cerebelloparenchymal disorder type 3
  1182	Spastic ataxia with congenital miosis
  1195	Congenital atransferrinemia
  1198	Colonic atresia
  1199	Esophageal atresia
  1200	Burn-McKeown syndrome
  1205	Mitral atresia
  1221	Cheilitis glandularis
  1225	Baller-Gerold syndrome
  1237	Beemer-Ertbruggen syndrome
  1261	Bonnemann-Meinecke-Reich syndrome
  1327	Camptodactyly syndrome, Guadalajara type 1
  1330	Partial atrioventricular septal defect
  1331	Familial prostate cancer
  1333	Familial pancreatic carcinoma
  1342	Heart-hand syndrome type 3
  1352	Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
  1361	Carnosinase deficiency
  1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
  1388	Catel-Manzke syndrome
  1393	Cerebrocostomandibular syndrome
  1397	Hydrocephaly-cerebellar agenesis syndrome
  1398	Isolated cerebellar agenesis
  1399	Richards-Rundle syndrome
  1401	CHAND syndrome
  1415	Cholestasis-pigmentary retinopathy-cleft palate syndrome
  1422	Chondrodysplasia-difference of sex development syndrome
  1438	Ring chromosome 10 syndrome
  1440	Ring chromosome 14 syndrome
  1442	Ring chromosome 18 syndrome
  1447	Ring chromosome 4 syndrome
  1451	CINCA syndrome
  1475	Renal coloboma syndrome
  1479	Atrial septal defect-atrioventricular conduction defects syndrome
  1493	Vici syndrome
  1497	X-linked complicated corpus callosum dysgenesis
  1515	Cranioectodermal dysplasia
  1553	Curry-Jones syndrome
  1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
  1568	X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
  1572	Common variable immunodeficiency
  1617	2q24 microdeletion syndrome
  1620	Distal deletion 3p
  1636	Distal monosomy 7q36
  1643	Xp22.3 microdeletion syndrome
  1660	Dermoodontodysplasia
  1662	Restrictive dermopathy
  1723	Mosaic trisomy 2
  1747	Mosaic trisomy 7
  1756	Caudal duplication
  1757	Fibular dimelia-diplopodia syndrome
  1786	Acrofacial dysostosis, Catania type
  1791	Frontofacionasal dysplasia
  1797	Autosomal dominant spondylocostal dysostosis
  1822	Dysplasia epiphysealis hemimelica
  1834	Axial mesodermal dysplasia spectrum
  1837	Ulna metaphyseal dysplasia syndrome
  1851	Multicystic dysplastic kidney
  1875	Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
  1882	Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
  1885	Isolated ectopia lentis
  1896	EEC syndrome
  1906	Fetal valproate spectrum disorder
  1916	Diethylstilbestrol syndrome
  1918	Fetal minoxidil syndrome
  1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  1934	Early infantile epileptic encephalopathy
  1947	Progressive epilepsy-intellectual disability syndrome, Finnish type
  1951	Epilepsy-telangiectasia syndrome
  1964	Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
  1997	Blepharo-cheilo-odontic syndrome
  2001	Cleft lip/palate-intestinal malrotation-cardiopathy syndrome
  2015	Cleft palate-short stature-vertebral anomalies syndrome
  2021	Fibrochondrogenesis
  2030	Fibrosarcoma
  2048	Foix-Chavany-Marie syndrome
  2059	Fryns syndrome
  2066	Gamma-aminobutyric acid transaminase deficiency
  2067	GAPO syndrome
  2088	Fanconi-Bickel syndrome
  2109	Hallermann-Streiff-like syndrome
  2110	Hallux varus-preaxial polysyndactyly syndrome
  2134	Atypical hemolytic uremic syndrome
  2137	Autoimmune hepatitis
  2150	Hirschsprung disease-type D brachydactyly syndrome
  2153	Hirschsprung disease-nail hypoplasia-dysmorphism syndrome
  2158	Histidinuria-renal tubular defect syndrome
  2185	Congenital hydrocephalus
  2197	Idiopathic hypercalciuria
  2201	Palmoplantar keratoderma-spastic paralysis syndrome
  2229	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
  2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome
  2246	Cerebellar hypoplasia-tapetoretinal degeneration syndrome
  2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
  2300	Multiple intestinal atresia
  2302	Asbestos intoxication
  2314	Autosomal dominant hyper-IgE syndrome
  2326	Kallmann syndrome-heart disease syndrome
  2330	Kasabach-Merritt syndrome
  2348	Familial partial lipodystrophy, Dunnigan type
  2372	Laryngocele
  2380	Legg-Calvé-Perthes disease
  2394	Pyruvate dehydrogenase E3 deficiency
  2405	Thickened earlobes-conductive deafness syndrome
  2489	Upper limb defect-eye and ear abnormalities syndrome
  2515	Microcephaly-cardiomyopathy syndrome
  2521	Microcephaly-cleft palate-abnormal retinal pigmentation syndrome
  2554	Ear-patella-short stature syndrome
  2558	Mikati-Najjar-Sahli syndrome
  2576	Mulibrey nanism
  2587	Myeloperoxidase deficiency
  2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
  2591	Infantile myofibromatosis
  2598	Mitochondrial myopathy and sideroblastic anemia
  2608	N syndrome
  2616	3M syndrome
  2623	Geleophysic dysplasia
  2632	Langer mesomelic dysplasia
  2653	Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome
  2680	Hypomyelination neuropathy-arthrogryposis syndrome
  2699	Median nodule of the upper lip
  2714	Oculo-palato-cerebral syndrome
  2717	Oculotrichoanal syndrome
  2718	Oculotrichodysplasia
  2722	Odonto-onycho dysplasia-alopecia syndrome
  2723	Odontotrichomelic syndrome
  2743	Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome
  2745	Opitz GBBB syndrome
  2751	Orofaciodigital syndrome type 2
  2752	Orofaciodigital syndrome type 3
  2770	Nasu-Hakola disease
  2785	Osteopetrosis with renal tubular acidosis
  2787	Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome
  2789	Lateral meningocele syndrome
  2793	Otoonychoperoneal syndrome
  2801	Juvenile Paget disease
  2804	W syndrome
  2808	Laryngeal abductor paralysis
  2809	Familial recurrent peripheral facial palsy
  2819	Spastic paraplegia-facial-cutaneous lesions syndrome
  2881	Cutaneous photosensitivity-lethal colitis syndrome
  2891	Pili torti-developmental delay-neurological abnormalities syndrome
  2892	Pilodental dysplasia-refractive errors syndrome
  2902	Idiopathic chronic eosinophilic pneumonia
  2916	Postaxial polydactyly-dental and vertebral anomalies syndrome
  2920	Oliver syndrome
  2951	Absent thumb-short stature-immunodeficiency syndrome
  2958	X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
  2962	De Barsy syndrome
  2964	Autosomal dominant prognathism
  2971	Peroxisomal acyl-CoA oxidase deficiency
  2973	46,XX difference of sex development-anorectal anomalies syndrome
  3000	Familial peripheral male-limited precocious puberty
  3010	Qazi-Markouizos syndrome
  3035	Growth delay-hydrocephaly-lung hypoplasia syndrome
  3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
  3063	X-linked intellectual disability, Snyder type
  3078	Severe X-linked intellectual disability, Gustavson type
  3093	Congenital aortic valve stenosis
  3144	Schneckenbecken dysplasia
  3152	Sclerosteosis
  3162	Sézary syndrome
  3163	SHORT syndrome
  3175	X-linked spasticity-intellectual disability-epilepsy syndrome
  3181	Sprengel deformity
  3191	Subaortic stenosis-short stature syndrome
  3196	Steroid dehydrogenase deficiency-dental anomalies syndrome
  3205	Sturge-Weber syndrome
  3222	Phosphoribosylpyrophosphate synthetase superactivity
  3232	Deafness-ear malformation-facial palsy syndrome
  3246	Symphalangism with multiple anomalies of hands and feet
  3263	Syngnathia-cleft palate syndrome
  3269	Congenital radioulnar synostosis
  3270	Radioulnar synostosis-developmental delay-hypotonia syndrome
  3293	Telecanthus-hypertelorism-strabismus-pes cavus syndrome
  3312	Thalidomide embryopathy
  3320	Thrombocytopenia-absent radius syndrome
  3322	Hoyeraal-Hreidarsson syndrome
  3346	Tracheal agenesis
  3366	Non-syndromic metopic craniosynostosis
  3383	Humerus trochlea aplasia
  3404	Ulbright-Hodes syndrome
  3406	Ulerythema ophryogenesis
  3417	Van den Bosch syndrome
  3426	Double outlet right ventricle
  3448	Weaver-Williams syndrome
  3451	Infantile spasms syndrome
  3465	Worster-Drought syndrome
  26106	Hereditary diffuse gastric cancer
  26137	Juvenile temporal arteritis
  29822	Spontaneous periodic hypothermia
  30391	Isolated biliary atresia
  31202	Melioidosis
  31709	Infantile convulsions and choreoathetosis
  31828	Digitalis poisoning
  34587	Glycogen storage disease due to LAMP-2 deficiency
  35063	Fulminant viral hepatitis
  35120	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
  35710	Glucose-galactose malabsorption
  35737	Morning glory disc anomaly
  36236	Staphylococcal scalded skin syndrome
  36367	Distal deletion 1q
  36382	Familial cervical artery dissection
  36412	Hypocomplementemic urticarial vasculitis
  36426	Stevens-Johnson syndrome
  43116	Serotonin syndrome
  45448	Miyoshi myopathy
  46059	Lathosterolosis
  46486	Mucous membrane pemphigoid
  48104	Pyoderma gangrenosum
  49382	Achromatopsia
  50918	Kikuchi-Fujimoto disease
  50945	Blomstrand lethal chondrodysplasia
  51208	Formiminoglutamic aciduria
  52429	Branchiootic syndrome
  53347	Brody myopathy
  53691	Congenital cornea plana
  53693	GRACILE syndrome
  53719	Wyburn-Mason syndrome
  54251	Corticosteroid-sensitive aseptic abscess syndrome
  59181	Sorsby pseudoinflammatory fundus dystrophy
  60025	Pulmonary alveolar microlithiasis
  60032	Recurrent respiratory papillomatosis
  63446	Acrocapitofemoral dysplasia
  64686	Tolosa-Hunt syndrome
  64741	Pulmonary blastoma
  64742	Pleuropulmonary blastoma
  64752	Hereditary sensory and autonomic neuropathy type 5
  65283	Timothy syndrome
  65684	Monomelic amyotrophy
  65748	Multiple self-healing squamous epithelioma
  65759	Carpenter syndrome
  66628	Obesity due to congenital leptin deficiency
  67046	3-methylglutaconic aciduria type 1
  69063	Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization
  69077	Rhabdoid tumor
  70594	Dopa-responsive dystonia due to sepiapterin reductase deficiency
  71211	Neuromyelitis optica spectrum disorder
  71272	Sandifer syndrome
  71528	Obesity due to prohormone convertase I deficiency
  73223	Global developmental delay-osteopenia-ectodermal defect syndrome
  73260	Paracoccidioidomycosis
  73263	Zygomycosis
  73272	Growth delay due to insulin-like growth factor type 1 deficiency
  73273	Growth delay due to insulin-like growth factor I resistance
  75234	Cholesteryl ester storage disease
  75325	Osteosclerosis-ichthyosis-premature ovarian failure syndrome
  75373	Progressive bifocal chorioretinal atrophy
  75392	Periodontal Ehlers-Danlos syndrome
  77258	Trichorhinophalangeal syndrome type 1
  77260	Gaucher disease type 2
  77293	Chronic visceral acid sphingomyelinase deficiency
  79078	IgG4-related dacryoadenitis and sialadenitis
  79094	Grange syndrome
  79107	Developmental malformations-deafness-dystonia syndrome
  79134	DEND syndrome
  79148	Elastosis perforans serpiginosa
  79233	Hypoxanthine guanine phosphoribosyltransferase partial deficiency
  79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
  79277	Congenital erythropoietic porphyria
  79280	Alpha-N-acetylgalactosaminidase deficiency type 2
  79310	Vitamin B12-responsive methylmalonic acidemia type cblA
  79320	ALG6-CDG
  79327	ALG1-CDG
  79329	MGAT2-CDG
  79403	Junctional epidermolysis bullosa with pyloric atresia
  79434	Oculocutaneous albinism type 1B
  79467	Verrucous nevus
  79484	Phakomatosis cesiomarmorata
  79495	X-linked congenital generalized hypertrichosis
  79501	Punctate palmoplantar keratoderma type 1
  79651	Mild hyperphenylalaninemia
  79665	Gardner syndrome
  83313	Boutonneuse fever
  83314	Epidemic typhus
  83330	Proximal spinal muscular atrophy type 1
  83418	Proximal spinal muscular atrophy type 2
  83476	West-Nile encephalitis
  83601	Steroid-responsive encephalopathy associated with autoimmune thyroiditis
  83616	Rubella panencephalitis
  85136	Cystic leukoencephalopathy without megalencephaly
  85173	IMAGe syndrome
  85175	Astley-Kendall dysplasia
  85200	Ischiovertebral syndrome
  85278	Christianson syndrome
  85279	KDM5C-related syndromic X-linked intellectual disability
  85280	X-linked intellectual disability-cubitus valgus-dysmorphism syndrome
  85436	Psoriasis-related juvenile idiopathic arthritis
  85446	Wild type ABeta2M amyloidosis
  85447	ATTRV30M amyloidosis
  86815	Aplasia of lacrimal and salivary glands
  86822	Lissencephaly type 3-metacarpal bone dysplasia syndrome
  86855	Plasmacytoma
  86880	Enteropathy-associated T-cell lymphoma
  86884	Subcutaneous panniculitis-like T-cell lymphoma
  86902	Follicular dendritic cell sarcoma
  86913	Myoclonic epilepsy in non-progressive encephalopathies
  86918	Diffuse palmoplantar keratoderma-acrocyanosis syndrome
  87884	Non-syndromic genetic deafness
  88637	Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
  88917	X-linked Alport syndrome
  89838	Autosomal recessive generalized epidermolysis bullosa simplex
  89936	X-linked hypophosphatemia
  90003	Inflammatory pseudotumor of the liver
  90044	Familial pseudohyperkalemia
  90045	Hereditary folate malabsorption
  90053	Complications after hematopoietic stem cell transplantation
  90056	Moderate and severe traumatic brain injury
  90058	Spinal cord injury
  90076	Partial deep dermal and full thickness burns
  90153	Mandibuloacral dysplasia with type A lipodystrophy
  90160	Pressure-induced localized lipoatrophy
  90340	Blau syndrome
  90362	Primary intestinal lymphangiectasia
  90390	Anonychia-onychodystrophy syndrome
  90395	Papular mucinosis of infancy
  90650	Otopalatodigital syndrome type 1
  90673	Hypothyroidism due to TSH receptor mutations
  90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
  91130	Cardiomyopathy-hypotonia-lactic acidosis syndrome
  91131	DK1-CDG
  91138	Cryoglobulinemic vasculitis
  91348	Functioning gonadotropic adenoma
  91350	Pituitary deficiency due to Rathke cleft cysts
  91354	Pituitary deficiency due to empty sella turcica syndrome
  91358	Congenital esophageal diverticulum
  91412	Marcus-Gunn syndrome
  91494	Macular coloboma-cleft palate-hallux valgus syndrome
  91495	Persistent hyperplastic primary vitreous
  92050	Congenital tufting enteropathy
  93100	Renal agenesis, unilateral
  93176	Unilateral congenital megacalycosis
  93271	Short rib-polydactyly syndrome, Verma-Naumoff type
  93277	Monostotic fibrous dysplasia
  93292	Adenoma of pancreas
  93349	X-linked spondyloepimetaphyseal dysplasia
  93382	Brachydactyly type A6
  93400	Congenital sialidosis type 2
  93402	Syndactyly type 1
  93404	Syndactyly type 3
  93405	Syndactyly type 4
  93406	Syndactyly type 5
  93552	Pediatric systemic lupus erythematosus
  93556	Heavy chain deposition disease
  93562	AFib amyloidosis
  93685	Unicentric Castleman disease
  93928	Isolated epispadias
  93929	Cloacal exstrophy
  93932	FG syndrome type 1
  93947	X-linked intellectual disability, Golabi-Ito-Hall type
  93969	Open spinal dysraphism with a myelomeningocele
  94058	Neovascular glaucoma
  94122	Cerebellar ataxia, Cayman type
  95512	Adenohypophysitis
  95854	Levocardia
  96055	Tetrasomy 21
  96092	8p inverted duplication/deletion syndrome
  96097	Distal duplication 5q
  96102	Distal duplication 10q
  96126	Distal deletion 7p
  96147	Kleefstra syndrome due to 9q34 microdeletion
  96177	Ring chromosome 15 syndrome
  96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
  96193	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
  97249	Pontocerebellar hypoplasia type 3
  97286	Carney-Stratakis syndrome
  97332	Kienbock disease
  97339	Dural sinus malformation
  97349	Postencephalitic parkinsonism
  97367	Renal tubular dysgenesis due to twin-twin transfusion
  97368	Drug-related renal tubular dysgenesis
  97598	Congenital renal artery stenosis
  98619	Rare isolated myopia
  98760	Spinocerebellar ataxia type 8
  98762	Spinocerebellar ataxia type 12
  98794	Angelman syndrome due to maternal 15q11q13 deletion
  98818	Landau-Kleffner syndrome
  98827	Unclassified myelodysplastic syndrome
  98843	Classic Hodgkin lymphoma, nodular sclerosis type
  98845	Classic Hodgkin lymphoma, lymphocyte-rich type
  98850	Aggressive systemic mastocytosis
  98878	Hemophilia A
  98912	Late-onset distal myopathy, Markesbery-Griggs type
  98938	Colobomatous microphthalmia
  98944	Coloboma of iris
  98948	Congenital symblepharon
  98949	Complete cryptophthalmia
  98960	Thiel-Behnke corneal dystrophy
  98969	Macular corneal dystrophy
  98985	Early-onset sutural cataract
  98993	Early-onset posterior polar cataract
  99004	Fundus pulverulentus
  99049	Pulmonary artery coming from patent ductus arteriosus
  99053	Tunnel subaortic stenosis
  99054	Valvular pulmonary stenosis
  99072	Congenital patent ductus arteriosus aneurysm
  99092	Interventricular septum aneurysm
  99100	Juxtaposition of the atrial appendages
  99101	Ectasia of the right atrial appendage
  99107	Atrial septal aneurysm
  99113	Subaortic course of innominate vein
  99114	Agenesis of the superior vena cava
  99123	Inferior vena cava interruption without azygos continuation
  99756	Alveolar rhabdomyosarcoma
  99853	Ovarioleukodystrophy
  99867	Thymoma
  99885	Isolated permanent neonatal diabetes mellitus
  99898	Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
  99932	Heiner syndrome
  99934	Pleuropulmonary blastoma type 2
  99951	Charcot-Marie-Tooth disease type 4E
  99952	Charcot-Marie-Tooth disease type 4F
  99955	Charcot-Marie-Tooth disease type 4B1
  99961	Benign recurrent intrahepatic cholestasis type 2
  99978	Klatskin tumor
  100012	Lissencephaly with cerebellar hypoplasia type B
  100051	Hereditary angioedema type 2
  100054	F12-related hereditary angioedema with normal C1Inh
  100080	Neuroendocrine tumor of the colon
  100989	Autosomal dominant spastic paraplegia type 8
  100997	X-linked spastic paraplegia type 16
  101003	Autosomal recessive spastic paraplegia type 23
  101009	Autosomal dominant spastic paraplegia type 29
  101041	Familial hypofibrinogenemia
  101071	Unilateral hemispheric polymicrogyria
  101108	Spinocerebellar ataxia type 23
  101206	Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome
  101685	Rare non-syndromic intellectual disability
  103920	Undetermined colitis
  137675	Histiocytoid cardiomyopathy
  137834	Frank-Ter Haar syndrome
  137893	Male infertility due to large-headed multiflagellar polyploid spermatozoa
  137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
  137929	Neonatal brainstem dysfunction
  139441	Hypomyelination with atrophy of basal ganglia and cerebellum
  139450	Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
  139471	Microphthalmia with brain and digit anomalies
  140481	Autosomal dominant slowed nerve conduction velocity
  140917	Stapes ankylosis with broad thumbs and toes
  140936	Lelis syndrome
  141013	First branchial cleft anomaly
  141022	Second branchial cleft anomaly
  141046	Cervical dermoid cyst
  141064	Lower lip fistula
  141112	Nasal glial heterotopia
  141148	Hemifacial myohyperplasia
  141184	Rapidly involuting congenital hemangioma
  141276	Tessier number 7 facial cleft
  141330	Orofaciodigital syndrome type 13
  157823	Klüver-Bucy syndrome
  158057	Acquired hemophagocytic lymphohistiocytosis associated with malignant disease
  158668	Ectodermal dysplasia-skin fragility syndrome
  162516	Isolated congenital nasal pyriform aperture stenosis
  163596	Hb Bart's hydrops fetalis
  163961	X-linked cerebral-cerebellar-coloboma syndrome
  166032	Multiple epiphyseal dysplasia, with miniepiphyses
  166282	Familial sick sinus syndrome
  166418	Eating reflex epilepsy
  168443	Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome
  168486	Congenital neuronal ceroid lipofuscinosis
  168566	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
  168816	Peritoneal cystic mesothelioma
  168940	Chronic eosinophilic leukemia
  168950	Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement
  169105	Good syndrome
  169157	T-B+ severe combined immunodeficiency due to CD45 deficiency
  169796	Moderate hemophilia B
  169808	Mild hemophilia A
  171673	Limbal stem cell deficiency
  171690	Metabolic myopathy due to lactate transporter defect
  171709	Male infertility due to globozoospermia
  171929	Trisomy 10p
  177907	Prader-Willi syndrome due to translocation
  178145	Moderate multiminicore disease with hand involvement
  178396	Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
  178509	Perry syndrome
  180142	Absence of uterine body
  180242	Malignant tumor of fallopian tubes
  183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency
  199241	Pulmonary capillary hemangiomatosis
  199329	Congenital myopathy, Paradas type
  208447	Bilateral generalized polymicrogyria
  208513	Spinocerebellar ataxia type 29
  208524	Herpetiform pemphigus
  209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
  209967	Episodic ataxia type 6
  209989	Non-papillary transitional cell carcinoma of the bladder
  210141	Inherited congenital spastic tetraplegia
  210144	Lethal polymalformative syndrome, Boissel type
  213711	Endometrial stromal sarcoma
  213731	High-grade neuroendocrine carcinoma of the corpus uteri
  213736	Low-grade neuroendocrine tumor of the corpus uteri
  213746	Transitional cell carcinoma of the corpus uteri
  216820	Osteogenesis imperfecta type 4
  216866	Classic pantothenate kinase-associated neurodegeneration
  217064	5-fluorouracil poisoning
  217093	Mucopolysaccharidosis type 2, attenuated form
  217382	Neurodegenerative syndrome due to cerebral folate transport deficiency
  217396	Progressive polyneuropathy with bilateral striatal necrosis
  217566	Chronic respiratory distress with surfactant metabolism deficiency
  220393	Diffuse cutaneous systemic sclerosis
  220443	Bleeding diathesis due to thromboxane synthesis deficiency
  221142	Confetti-like macular atrophy
  228119	Fusariosis
  228123	Coccidioidomycosis
  228140	Idiopathic ventricular fibrillation, non Brugada type
  228371	Foodborne botulism
  228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome
  231080	High-grade dysplasia in patients with Barrett esophagus
  231108	Rhabdoid tumor predisposition syndrome
  231512	Hermansky-Pudlak syndrome due to BLOC-2 deficiency
  238468	Hypohidrotic ectodermal dysplasia
  238613	Beckwith-Wiedemann syndrome due to NSD1 mutation
  238688	Neonatal iodine exposure
  240085	Progressive supranuclear palsy-parkinsonism syndrome
  243367	Acute fatty liver of pregnancy
  247198	Progressive cerebello-cerebral atrophy
  247262	Hyperphosphatasia-intellectual disability syndrome
  247598	Neonatal intrahepatic cholestasis due to citrin deficiency
  247667	Childhood-onset hypophosphatasia
  247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  247724	Idiopathic eosinophilic myositis
  247762	Lipoblastoma
  247815	Autosomal recessive ataxia due to PEX10 deficiency
  247820	Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome
  250999	1q41q42 microdeletion syndrome
  251009	Maternal uniparental disomy of chromosome 1
  251019	2q32q33 microdeletion syndrome
  251262	Familial osteochondritis dissecans
  251295	Pigmented paravenous retinochoroidal atrophy
  251582	Gliomatosis cerebri
  251604	Gemistocytic astrocytoma
  251607	Pleomorphic xanthoastrocytoma
  251615	Pilomyxoid astrocytoma
  251636	Ependymoma
  251639	Subependymoma
  251902	Atypical papilloma of choroid plexus
  251927	Extraventricular neurocytoma
  251940	Desmoplastic infantile astrocytoma/ganglioglioma
  251975	Rosette-forming glioneuronal tumor
  252164	Benign schwannoma
  252202	Constitutional mismatch repair deficiency syndrome
  254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
  254424	Annular lichen planus
  254698	Epithelioid trophoblastic tumor
  254905	Isolated cytochrome C oxidase deficiency
  261102	Distal 7q11.23 microduplication syndrome
  261144	FOXG1 syndrome due to 14q12 microdeletion
  261211	16p11.2p12.2 microdeletion syndrome
  261323	21q22.11q22.12 microdeletion syndrome
  261337	Distal 22q11.2 microduplication syndrome
  261349	2p15p16.1 microdeletion syndrome
  261476	Xp21 deletion syndrome
  261529	Ring chromosome Y syndrome
  261534	49,XXXYY syndrome
  261629	Alagille syndrome due to a NOTCH2 point mutation
  261638	Okihiro syndrome due to 20q13 microdeletion
  263324	Thymoma type AB
  263331	Well-differentiated thymic neuroendocrine carcinoma
  263458	Hyperinsulinism due to INSR deficiency
  263463	CHST3-related skeletal dysplasia
  263516	Progressive myoclonic epilepsy type 3
  263665	NK-cell enteropathy
  264580	Glycogen storage disease due to liver phosphorylase kinase deficiency
  264675	Hereditary pulmonary alveolar proteinosis
  268184	Thiamine-responsive maple syrup urine disease
  268829	Basal encephalocele
  268947	Unilateral focal polymicrogyria
  268961	Isolated focal cortical dysplasia type I
  269008	Isolated focal cortical dysplasia type IIb
  269229	Pontine tegmental cap dysplasia
  275523	Dianzani autoimmune lymphoproliferative disease
  276174	Idiopathic recurrent stupor
  276193	Spinocerebellar ataxia type 35
  276223	Mucopolysaccharidosis type 6, slowly progressing
  276244	Machado-Joseph disease type 3
  276280	Hemihyperplasia-multiple lipomatosis syndrome
  276598	Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
  276630	Symptomatic form of Coffin-Lowry syndrome in female carriers
  279925	Infectious panuveitis
  280183	Methylmalonic aciduria due to transcobalamin receptor defect
  280234	Null syndrome
  280288	Pelizaeus-Merzbacher-like disease due to HSPD1 mutation
  280403	Familial omphalocele syndrome with facial dysmorphism
  280553	Fatal infantile hypertonic myofibrillar myopathy
  280576	Nestor-Guillermo progeria syndrome
  280620	Progressive myoclonic epilepsy type 6
  280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
  280774	Generalized essential telangiectasia
  280811	Extralobar congenital pulmonary sequestration
  280917	Idiopathic posterior uveitis
  281190	Congenital reticular ichthyosiform erythroderma
  284180	Xp22.13p22.2 duplication syndrome
  284339	Pontocerebellar hypoplasia type 7
  284388	Reversible cerebral vasoconstriction syndrome
  289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0
  293150	Familial clubfoot due to PITX1 point mutation
  293462	Pre-Descemet corneal dystrophy
  293843	3MC syndrome
  293864	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
  293958	Hypertelorism-preauricular sinus-punctual pits-deafness syndrome
  294026	Syndactyly-nystagmus syndrome due to 2q31.1 microduplication
  294422	Chronic intestinal failure
  294971	Tetra-amelia
  294983	Acheiria
  295020	Congenital pseudoarthrosis of the femur
  295032	Isolated congenital radial head dislocation
  295187	Zygodactyly type 1
  295191	Zygodactyly type 3
  295245	Macrodactyly of toes, bilateral
  300293	Transient infantile hypertriglyceridemia and hepatosteatosis
  300319	Charcot-Marie-Tooth disease type 2P
  300564	Combined pulmonary fibrosis-emphysema syndrome
  306530	Congenital hereditary facial paralysis-variable hearing loss syndrome
  306682	Manganese poisoning
  306734	Primary dystonia, DYT21 type
  308410	Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
  309108	Pancreatic colipase deficiency
  309155	Sandhoff disease, infantile form
  309178	Tay-Sachs disease, B variant, infantile form
  309331	Intermediate severe Salla disease
  309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
  313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
  313846	Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome
  314017	Idiopathic linear interstitial keratitis
  314689	Combined immunodeficiency due to STK4 deficiency
  314777	Familial isolated pituitary adenoma
  314970	Lymphocytic hypereosinophilic syndrome
  317430	Combined immunodeficiency due to STIM1 deficiency
  317476	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
  319229	Bolivian hemorrhagic fever
  319552	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
  319678	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
  320355	Autosomal dominant spastic paraplegia type 41
  320375	Autosomal recessive spastic paraplegia type 55
  320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
  320411	Autosomal recessive spastic paraplegia type 56
  324262	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
  324294	T-cell immunodeficiency with epidermodysplasia verruciformis
  324307	Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome
  324718	ABetaA21G amyloidosis
  324737	SRD5A3-CDG
  324964	Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis
  324972	MAGIC syndrome
  329217	Cerebral sinovenous thrombosis
  329466	Autosomal dominant focal dystonia, DYT25 type
  329475	Spastic paraplegia-Paget disease of bone syndrome
  329971	Generalized juvenile polyposis/juvenile polyposis coli
  329977	Classic neuroendocrine tumor of appendix
  330001	Wild type ATTR amyloidosis
  330021	Mercury poisoning
  330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect
  331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency
  352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome
  352563	Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
  352587	Focal epilepsy-intellectual disability-cerebro-cerebellar malformation
  352709	CLN13 disease
  352723	Attenuated Chédiak-Higashi syndrome
  353277	Rubinstein-Taybi syndrome due to CREBBP mutations
  363412	Hypomyelination with brain stem and spinal cord involvement and leg spasticity
  363424	Multiple mitochondrial dysfunctions syndrome type 3
  363534	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
  363623	GMPPB-related limb-girdle muscular dystrophy R19
  363677	Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
  363992	Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
  364033	Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood
  369840	TRAPPC11-related limb-girdle muscular dystrophy R18
  369970	Microcornea-myopic chorioretinal atrophy-telecanthus syndrome
  370039	Angora hair nevus
  370930	XYLT1-CDG
  370933	GM3 synthase deficiency
  391376	Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
  391384	Familial episodic pain syndrome
  391474	Frontorhiny
  391723	Mucinous adenocarcinoma of the appendix
  397685	Familial hyperprolactinemia
  397695	3q27.3 microdeletion syndrome
  397735	Autosomal dominant Charcot-Marie-Tooth disease type 2U
  397922	Ferro-cerebro-cutaneous syndrome
  397959	TCR-alpha-beta-positive T-cell deficiency
  398088	Hereditary cryohydrocytosis with normal stomatin
  398117	Neonatal dermatomyositis
  399103	Distal nebulin myopathy
  399293	Osteonecrosis of the jaw
  401849	Autosomal spastic paraplegia type 72
  401866	Childhood-onset spasticity with hyperglycinemia
  401948	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
  402014	Acute myeloid leukemia with t(6;9)(p23;q34)
  402023	Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)
  402364	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  404553	Vasculitis due to ADA2 deficiency
  411515	Angelman syndrome due to imprinting defect in 15q11-q13
  412181	Epidermolysis bullosa simplex due to BP230 deficiency
  412206	Primary failure of tooth eruption
  420179	Malan overgrowth syndrome
  420429	Glycogen storage disease due to acid maltase deficiency, late-onset
  420561	Temple-Baraitser syndrome
  420573	Severe combined immunodeficiency due to CTPS1 deficiency
  420733	Combined oxidative phosphorylation defect type 21
  420794	Cono-spondylar dysplasia
  423306	Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome
  423693	Double outlet right ventricle with subaortic or doubly committed ventricular septal defect
  423786	Undifferentiated carcinoma of stomach
  423968	Squamous cell carcinoma of the small intestine
  423994	Squamous cell carcinoma of the colon
  424046	Acinar cell carcinoma of pancreas
  424053	Mucinous cystadenocarcinoma of the pancreas
  424058	Intraductal papillary mucinous carcinoma of pancreas
  435628	Keppen-Lubinsky syndrome
  435651	CIDEC-related familial partial lipodystrophy
  435804	Short stature-advanced bone age-early-onset osteoarthritis syndrome
  436169	Thrombomodulin-related bleeding disorder
  438134	PCNA-related progressive neurodegenerative photosensitivity syndrome
  438159	STAT3-related early-onset multisystem autoimmune disease
  440713	Isolated sedoheptulokinase deficiency
  441452	Early-onset lamellar cataract
  443062	Familial porphyria cutanea tarda
  443079	Central serous chorioretinopathy
  443098	Hyperostosis cranialis interna
  443101	Hypothalamic adipsic hypernatraemia syndrome
  444002	11q22.2q22.3 microdeletion syndrome
  447740	Susceptibility to localized juvenile periodontitis
  447877	Polymerase proofreading-related adenomatous polyposis
  447893	Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
  447974	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
  447977	Progressive scapulohumeroperoneal distal myopathy
  449266	Pleural empyema
  453510	Congenital insensitivity to pain with severe intellectual disability
  454821	Pleomorphic salivary gland adenoma
  454840	NTHL1-related attenuated familial adenomatous polyposis
  6	3-methylcrotonyl-CoA carboxylase deficiency
  13	6-pyruvoyl-tetrahydropterin synthase deficiency
  37	Acrodermatitis enteropathica
  52	Alagille syndrome
  59	Allan-Herndon-Dudley syndrome
  64	Alström syndrome
  79	Congenital alpha2-antiplasmin deficiency
  90	Argininemia
  95	Friedreich ataxia
  98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay
  113	Bazex-Dupré-Christol syndrome
  117	Behçet disease
  128	Diphyllobothriasis
  139	CHILD syndrome
  457095	Actinomycosis
  457246	Clear cell sarcoma of kidney
  457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
  457406	Multiple mitochondrial dysfunctions syndrome type 4
  464306	DYRK1A-related intellectual disability syndrome
  464329	Kaposiform lymphangiomatosis
  464724	Fever-associated acute infantile liver failure syndrome
  466695	Supratip dysplasia
  468666	Isolated generalized anhidrosis with normal sweat glands
  480556	Isolated neonatal sclerosing cholangitis
  480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
  480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
  480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
  482077	HTRA1-related autosomal dominant cerebral small vessel disease
  485358	Propylthiouracil embryofetopathy
  485418	EMILIN-1-related connective tissue disease
  486811	Prenatal-onset spinal muscular atrophy with congenital bone fractures
  486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
  487814	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
  487825	Pierpont syndrome
  488168	Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
  488265	Osteofibrous dysplasia
  488586	Congenital amyoplasia
  488618	Transketolase deficiency
  494418	Vulvar carcinoma
  494526	Infantile-onset generalized dyskinesia with orofacial involvement
  496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
  497737	Epidermolytic nevus
  498359	Aquagenic palmoplantar keratoderma
  502305	Cochleovestibular malformation
  502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
  502437	4q25 proximal deletion syndrome
  505216	3-methylglutaconic aciduria type 9
  505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
  505242	Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
  508410	Familial intestinal malrotation
  519930	Fungal keratitis
  521308	Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome
  528623	Hereditary angioedema with C1Inh deficiency
  528663	Acquired angioedema with C1Inh deficiency
  529965	Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome
  530298	Progressive myoclonic epilepsy with neuroserpin inclusion bodies
  530792	RELA fusion-positive ependymoma
  538756	Familial multiple discoid fibromas
  538869	Bullous pyoderma gangrenosum
  538872	Vegetative pyoderma gangrenosum
  543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
  544493	Streptococcus pneumoniae-associated hemolytic uremic syndrome
  544628	Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome
  556037	Late-onset familial hypoaldosteronism
  557003	Oculoskeletodental syndrome
  557056	Spastic ataxia-dysarthria due to glutaminase deficiency
  562528	Congenital limbs-face contractures-hypotonia-developmental delay syndrome
  562538	Autosomal recessive extra-oral halitosis
  563612	Isolated exencephaly
  563676	Seromucinous cystadenoma of childhood
  160	Castleman disease
  162	Cataract-glaucoma syndrome
  202	Crandall syndrome
  232	Sickle cell anemia
  241	Dyschromatosis universalis hereditaria
  266	Autosomal dominant limb-girdle muscular dystrophy type 1A
  267	Calpain-3-related limb-girdle muscular dystrophy R1
  276	T-B+ severe combined immunodeficiency due to gamma chain deficiency
  287	Classical Ehlers-Danlos syndrome
  288	Hereditary elliptocytosis
  306	Benign familial infantile epilepsy
  313	Lamellar ichthyosis
  324	Fabry disease
  332	Congenital intrinsic factor deficiency
  345	Dissecting cellulitis of the scalp
  381	Griscelli syndrome
  396	Chronic hiccup
  397	Giant cell arteritis
  403	Familial hyperaldosteronism type I
  408	Isolated glycerol kinase deficiency
  414	Gyrate atrophy of choroid and retina
  427	Familial hypoaldosteronism
  439	Isolated right ventricular hypoplasia
  441	Pure autonomic failure
  446	Neonatal hemochromatosis
  452	X-linked lissencephaly with abnormal genitalia
  454	Acquired ichthyosis
  474	Jeune syndrome
  485	Kniest dysplasia
  488	Urachal cyst
  493	Familial keratoacanthoma
  494	Keratoderma hereditarium mutilans
  514	Acute monoblastic/monocytic leukemia
  518	Acute megakaryoblastic leukemia
  521	Chronic myeloid leukemia
  534	Oculocerebrorenal syndrome of Lowe
  545	Follicular lymphoma
  552	MODY
  569	Familial or sporadic hemiplegic migraine
  581	Mucopolysaccharidosis type 3
  588	Muscle-eye-brain disease
  644	NARP syndrome
  649	Norrie disease
  662	Yellow nail syndrome
  674	Accessory pancreas
  679	Malignant atrophic papulosis
  726	Alpers-Huttenlocher syndrome
  729	Polycythemia vera
  731	Autosomal recessive polycystic kidney disease
  734	Alpha delta granule deficiency
  742	Prolidase deficiency
  755	Leydig cell hypoplasia
  760	Purine nucleoside phosphorylase deficiency
  766	Hemolytic anemia due to red cell pyruvate kinase deficiency
  565837	Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23
  566857	Aprosencephaly
  567546	Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance
  567550	Idiopathic multidrug-resistant nephrotic syndrome
  570438	HHV-8-associated multicentric Castleman disease
  572798	WARS2-related combined oxidative phosphorylation defect
  574918	Predisposition to severe viral infection due to IRF7 deficiency
  576370	Variant Creutzfeldt-Jakob disease
  583097	Congenital infiltrating lipomatosis of the face
  583602	Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency
  589515	PUM1-associated developmental disability-ataxia-seizure syndrome
  589542	Myeloid/lymphoid neoplasm associated with JAK2 rearrangement
  592856	Neuromyelitis optica spectrum disorder with anti-MOG antibodies
  596759	Combined immunodeficiency due to RELA haploinsufficiency
  599376	Hypomyelination of early myelinating structures
  599519	Factor V short isoforms-related bleeding disorder
  600984	Non-syndromic anorectal malformation with rectovesical fistula
  603515	Isolated female hypospadias
  611207	Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome
  615943	Granuloma faciale
  617916	Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia
  617930	Hemophilia B Leyden
  619363	Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18
  620186	Non-syndromic unicoronal and sagittal craniosynostosis
  620192	Non-syndromic metopic and sagittal craniosynostosis
  621758	Fibrosis-neurodegeneration-cerebral angiomatosis syndrome
  623695	MIR140-related spondyloepiphyseal dysplasia
  624199	Non-specific autoimmune brainstem encephalitis with characteristic antibodies
  633035	Intellectual disability-early-onset cataract-microcephaly syndrome
  641380	PAPASH syndrome
  641385	PASS syndrome
  642085	Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type
  642763	Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation
  645291	Transitional extramedullary conus spinal cord lipoma
  645294	Posterior extramedullary conus spinal cord lipoma
  645322	Isolated transitional filum lipoma
  645354	Saccular limited dorsal myeloschisis
  645401	True myeloschisis
  645807	Primary tuberculous lymphadenitis
  647782	Isolated micronodular adrenocortical disease
  647804	Combined immunodeficiency due to FCHO1 deficiency
  647823	Idiopathic pregnancy-associated osteoporosis
  782	Axenfeld-Rieger syndrome
  806	Scott syndrome
  808	Seckel syndrome
  811	Shwachman-Diamond syndrome
  833	Encephalopathy due to sulfite oxidase deficiency
  838	Susac syndrome
  840	Syringocystadenoma papilliferum
  841	Sebocystomatosis
  867	Familial multiple trichoepithelioma
  894	Waardenburg syndrome type 1
  899	Walker-Warburg syndrome
  908	Fragile X syndrome
  949	Acrocraniofacial dysostosis
  952	Acrofacial dysostosis, Weyers type
  963	Acromegaly
  974	Adams-Oliver syndrome
  978	ADULT syndrome
  988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
  1000	Ocular albinism with late-onset sensorineural deafness
  1003	Scalp defects-postaxial polydactyly syndrome
  1006	Alopecia antibody deficiency
  1053	Vein of Galen aneurysmal malformation
  1068	Aniridia-intellectual disability syndrome
  1072	Ankyloblepharon filiforme adnatum-cleft palate syndrome
  1116	Aplasia cutis congenita-intestinal lymphangiectasia syndrome
  1118	Fibular aplasia-ectrodactyly syndrome
  1125	Ocular motor apraxia, Cogan type
  1133	AREDYLD syndrome
  1164	Allergic bronchopulmonary aspergillosis
  1183	Opsoclonus-myoclonus syndrome
  1227	Bangstad syndrome
  1264	Tricho-retino-dento-digital syndrome
  1276	Brachydactyly-arterial hypertension syndrome
  1295	Brachytelephalangy-dysmorphism-Kallmann syndrome
  1314	Symmetrical thalamic calcifications
  1321	Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome
  1328	Camurati-Engelmann disease
  1373	Cataract-aberrant oral frenula-growth delay syndrome
  1381	Cataract-intellectual disability-anal atresia-urinary defects syndrome
  1456	Atypical coarctation of aorta
  1466	COFS syndrome
  1467	Cogan syndrome
  1478	Interatrial communication
  1482	Gonococcal conjunctivitis
  1487	Cooks syndrome
  1490	Corneal dystrophy-perceptive deafness syndrome
  1522	Craniometaphyseal dysplasia
  1524	Craniomicromelic syndrome
  1541	Craniosynostosis, Boston type
  1563	Dahlberg-Borer-Newcomer syndrome
  1566	Dandy-Walker malformation-postaxial polydactyly syndrome
  1578	Pterin-4 alpha-carbinolamine dehydratase deficiency
  1580	Distal deletion 10p
  1590	Distal deletion 13q
  1667	Wolcott-Rallison syndrome
  1692	Mosaic trisomy 1
  1706	Mosaic trisomy 15
  1707	Distal duplication 15q
  1713	17p11.2 microduplication syndrome
  1768	Familial caudal dysgenesis
  1772	45,X/46,XY mixed gonadal dysgenesis
  1811	Odontomicronychial dysplasia
  1812	Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
  1826	Frontometaphyseal dysplasia
  1876	Oculogastrointestinal muscular dystrophy
  1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
  1913	Fetal trimethadione syndrome
  1931	Frontal encephalocele
  1941	Juvenile absence epilepsy
  1942	Myoclonic-astatic epilepsy
  1959	Evans syndrome
  1969	Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
  1986	Gollop-Wolfgang complex
  2003	Cleft lip/palate-deafness-sacral lipoma syndrome
  2008	Acrocardiofacial syndrome
  2020	Congenital fiber-type disproportion myopathy
  2024	Hereditary gingival fibromatosis
  2056	Essential fructosuria
  2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
  2073	Narcolepsy type 1
  2090	GMS syndrome
  2095	Gorlin-Chaudhry-Moss syndrome
  2101	Grubben-de Cock-Borghgraef syndrome
  2115	Harrod syndrome
  2118	Hawkinsinuria
  2119	HEC syndrome
  2180	Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome
  2203	Hyperlysinemia
  2204	Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type
  2218	Cervical hypertrichosis-peripheral neuropathy syndrome
  2230	Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome
  2239	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
  2266	Hypotrichosis-intellectual disability, Lopes type
  2272	Ichthyosis-oral and digital anomalies syndrome
  2278	Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
  2295	Familial articular hypermobility syndrome
  2299	Aortic arch interruption
  2315	Johanson-Blizzard syndrome
  2324	Osteopenia-intellectual disability-sparse hair syndrome
  2368	Gastroschisis
  2382	Lennox-Gastaut syndrome
  2390	Lichtenstein syndrome
  2409	Lowry-MacLean syndrome
  2429	Macrocephaly-spastic paraplegia-dysmorphism syndrome
  2435	Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome
  2440	Isolated split hand-split foot malformation
  2459	Mansonelliasis
  2464	Marfanoid syndrome, De Silva type
  2470	Matthew-Wood syndrome
  2476	Dysraphism-cleft lip/palate-limb reduction defects syndrome
  2483	Melkersson-Rosenthal syndrome
  2501	Metaphyseal chondrodysplasia, Spahr type
  2512	Autosomal recessive primary microcephaly
  2526	Microcephaly-lymphedema-chorioretinopathy syndrome
  2528	Microcephaly-microcornea syndrome, Seemanova type
  2564	Tetramelic monodactyly
  2566	Chronic Epstein-Barr virus infection syndrome
  2574	Moynahan syndrome
  2589	Myoclonus-cerebellar ataxia-deafness syndrome
  2613	Nail-patella-like renal disease
  2614	Nail-patella syndrome
  2617	Microcephalic primordial dwarfism, Montreal type
  2645	Osteoglosphonic dysplasia
  2662	Keipert syndrome
  2670	Pierson syndrome
  2671	Neu-Laxova syndrome
  2672	Neuhauser-Eichner-Opitz syndrome
  2673	Neurofaciodigitorenal syndrome
  2678	Familial isolated café-au-lait macules
  2695	Bifid nose
  2709	Oculodental syndrome, Rutherfurd type
  2712	Oculofaciocardiodental syndrome
  2800	Extramammary Paget disease
  2805	Partial pancreatic agenesis
  2815	Spastic paraparesis-deafness syndrome
  2818	Spastic paraplegia-glaucoma-intellectual disability syndrome
  2821	Spastic paraplegia-neuropathy-poikiloderma syndrome
  2824	Paraplegia-intellectual disability-hyperkeratosis syndrome
  2836	PEHO syndrome
  2840	Pelvic dysplasia-arthrogryposis of lower limbs syndrome
  2843	Pentosuria
  2847	Pericardial and diaphragmatic defect
  2856	Persistent Müllerian duct syndrome
  2898	X-linked intellectual disability-plagiocephaly syndrome
  2905	POEMS syndrome
  2909	Rothmund-Thomson syndrome
  2921	Preaxial polydactyly-colobomata-intellectual disability syndrome
  2926	Digital extensor muscle aplasia-polyneuropathy
  2940	Porencephaly
  2957	Guttmacher syndrome
  2989	Familial pterygium of the conjunctiva
  2994	Short stature-craniofacial anomalies-genital hypoplasia syndrome
  2997	Ptosis-vocal cord paralysis syndrome
  3015	Radio-renal syndrome
  3021	RAPADILINO syndrome
  3023	External auditory canal atresia-vertical talus-hypertelorism syndrome
  3080	Intellectual disability, Wolff type
  3101	Richieri Costa-da Silva syndrome
  3104	Robin sequence-oligodactyly syndrome
  3111	Rotor syndrome
  3132	Say-Barber-Miller syndrome
  3161	Congenital pulmonary sequestration
  3192	Supravalvular pulmonary stenosis
  3193	Supravalvular aortic stenosis
  3206	Stüve-Wiedemann syndrome
  3217	Deafness-small bowel diverticulosis-neuropathy syndrome
  3220	Deafness-enamel hypoplasia-nail defects syndrome
  3226	Deafness-lymphedema-leukemia syndrome
  3240	Central nervous system calcification-deafness-tubular acidosis-anemia syndrome
  3253	Cleft lip/palate-ectodermal dysplasia syndrome
  3268	Radioulnar synostosis-microcephaly-scoliosis syndrome
  3292	Tel Hashomer camptodactyly syndrome
  3306	Inverted duplicated chromosome 15 syndrome
  3317	Thoracolaryngopelvic dysplasia
  3339	Toriello-Lacassie-Droste syndrome
  3352	Tricho-dento-osseous syndrome
  25968	Benign occipital epilepsy
  28378	Tyrosinemia type 2
  31112	Dermatofibrosarcoma protuberans
  31826	Ethylene glycol poisoning
  33276	Kaposi sarcoma
  33364	Trichothiodystrophy
  33572	5-oxoprolinase deficiency
  34528	Autosomal dominant primary hypomagnesemia with hypocalciuria
  35099	Non-syndromic bicoronal craniosynostosis
  35173	X-linked dominant chondrodysplasia punctata
  35612	Nanophthalmos
  35708	Aromatic L-amino acid decarboxylase deficiency
  35878	Hyperinsulinism-hyperammonemia syndrome
  38874	Dihydropyrimidinuria
  39041	Omenn syndrome
  41751	Bietti crystalline dystrophy
  42665	Tietz syndrome
  45453	Incessant infant ventricular tachycardia
  46488	Linear IgA dermatosis
  47159	Proximal renal tubular acidosis
  48686	Primary effusion lymphoma
  49042	Dentinogenesis imperfecta
  50839	Cat-scratch disease
  52427	Retinitis punctata albescens
  52503	X-linked creatine transporter deficiency
  53698	Myosin storage myopathy
  54028	Plummer-Vinson syndrome
  54368	Sarcocystosis
  55595	TNP03-related limb-girdle muscular dystrophy D2
  55596	HNRNPDL-related limb-girdle muscular dystrophy D3
  55655	Pneumococcal meningitis
  56304	Atelosteogenesis type II
  56425	Cold agglutinin disease
  60015	Enlarged parietal foramina
  63273	Distal myopathy with posterior leg and anterior hand involvement
  64722	Granulomatous mastitis
  65743	Autosomal dominant multiple pterygium syndrome
  66529	Tako-Tsubo cardiomyopathy
  66634	Dilated cardiomyopathy with ataxia
  67038	B-cell chronic lymphocytic leukemia
  67039	Segmental odontomaxillary dysplasia
  67042	Late-onset retinal degeneration
  69076	Familial renal glucosuria
  69085	Limb-mammary syndrome
  69087	Naegeli-Franceschetti-Jadassohn syndrome
  71279	CANOMAD syndrome
  73229	HANAC syndrome
  73230	Ossification anomalies-psychomotor developmental delay syndrome
  73267	Non-24-hour sleep-wake syndrome
  75233	Wolman disease
  75381	Cystoid macular dystrophy
  75508	Angioosteohypotrophic syndrome
  77292	Infantile neurovisceral acid sphingomyelinase deficiency
  77295	Odontoleukodystrophy
  79083	PPARG-related familial partial lipodystrophy
  79118	Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome
  79129	Trichodysplasia-amelogenesis imperfecta syndrome
  79144	Isolated congenital onychodysplasia
  79145	Dowling-Degos disease
  79149	Dermochondrocorneal dystrophy
  79152	Disseminated superficial actinic porokeratosis
  79235	Crigler-Najjar syndrome type 2
  79244	Pyruvate dehydrogenase E2 deficiency
  79246	Pyruvate dehydrogenase phosphatase deficiency
  79255	GM1 gangliosidosis type 1
  79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
  79271	Sanfilippo syndrome type C
  79284	Methylmalonic acidemia with homocystinuria type cblF
  79292	Fish-eye disease
  79303	Congenital bile acid synthesis defect type 2
  79304	Progressive familial intrahepatic cholestasis type 2
  79311	Vitamin B12-responsive methylmalonic acidemia type cblB
  79315	D-2-hydroxyglutaric aciduria
  79325	ALG8-CDG
  79333	COG7-CDG
  79350	3-phosphoserine phosphatase deficiency, infantile/juvenile form
  79400	Localized epidermolysis bullosa simplex
  79405	Junctional epidermolysis bullosa inversa
  79406	Late-onset junctional epidermolysis bullosa
  79411	Self-improving dystrophic epidermolysis bullosa
  79431	Oculocutaneous albinism type 1A
  79433	Oculocutaneous albinism type 3
  79457	Maculopapular cutaneous mastocytosis
  79483	Phakomatosis cesioflammea
  79489	Macrocystic lymphatic malformation
  79643	Autosomal recessive hyperinsulinism due to SUR1 deficiency
  83463	Microtia
  83469	Desmoplastic small round cell tumor
  83472	CAMOS syndrome
  83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
  83482	Mycoplasma encephalitis
  83595	Colorado tick fever
  83597	Acute disseminated encephalomyelitis
  83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
  84065	Idiopathic malabsorption due to bile acid synthesis defects
  84085	Hinman syndrome
  84087	Collagen type III glomerulopathy
  85146	Neurogenic scapuloperoneal syndrome, Kaeser type
  85169	Familial digital arthropathy-brachydactyly
  85195	Familial expansile osteolysis
  85294	X-linked epilepsy-learning disabilities-behavior disorders syndrome
  85295	HSD10 disease, atypical type
  85323	X-linked intellectual disability, Seemanova type
  85326	X-linked intellectual disability, Stoll type
  85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
  85410	Oligoarticular juvenile idiopathic arthritis
  85442	Short stature-pituitary and cerebellar defects-small sella turcica syndrome
  86789	Patella aplasia/hypoplasia
  86814	Benign adult familial myoclonic epilepsy
  86829	Chronic neutrophilic leukemia
  86864	Heavy chain disease
  86873	Aggressive NK-cell leukemia
  86875	Adult T-cell leukemia/lymphoma
  87503	Mal de Meleda
  88620	Isolated congenital anosmia
  88629	Tritanopia
  88642	Congenital insensitivity to pain-anosmia-neuropathic arthropathy
  88659	Autosomal dominant progressive nephropathy with hypertension
  89844	Lissencephaly syndrome, Norman-Roberts type
  90001	X-linked cone dysfunction syndrome with myopia
  90030	Hemolytic anemia due to glutathione reductase deficiency
  90051	Sepsis in premature infants
  90291	Systemic sclerosis
  90308	Klippel-Trénaunay syndrome
  90348	Autosomal dominant cutis laxa
  90349	Autosomal recessive cutis laxa type 1
  90393	Nodular lichen myxedematosus
  90397	Self-healing papular mucinosis
  90641	Rare mitochondrial non-syndromic sensorineural deafness
  90654	Stickler syndrome type 2
  90658	Charcot-Marie-Tooth disease type 1E
  91411	Congenital ptosis
  91414	Pilomatrixoma
  91481	Ring dermoid of cornea
  91489	Isolated congenital megalocornea
  91490	Isolated congenital sclerocornea
  91498	Familial congenital palsy of trochlear nerve
  91546	Lyme disease
  93110	Posterior urethral valve
  93160	Hypocalcemic vitamin D-resistant rickets
  93173	Renal dysplasia, bilateral
  93262	Crouzon syndrome-acanthosis nigricans syndrome
  93296	Achondrogenesis type 2
  93320	Ulnar hemimelia
  93338	Polysyndactyly
  93352	Spondyloepimetaphyseal dysplasia, Shohat type
  93356	Spondyloepimetaphyseal dysplasia, Missouri type
  93387	Brachydactyly type E
  93394	Brachydactyly type A4
  93568	Juvenile polymyositis
  93583	Congenital thrombotic thrombocytopenic purpura
  93606	Nephrogenic syndrome of inappropriate antidiuresis
  93607	Autosomal recessive proximal renal tubular acidosis
  93610	Distal renal tubular acidosis with anemia
  93945	X-linked intellectual disability, Porteous type
  94080	Non-functioning paraganglioma
  95428	COG8-CDG
  95448	Congenital aortic valve atresia
  95457	Tricuspid valve agenesis
  95486	Premature closure of the arterial duct
  95496	Pituitary stalk interruption syndrome
  95626	Acquired central diabetes insipidus
  95702	X-linked adrenal hypoplasia congenita
  95706	Non-syndromic posterior hypospadias
  96061	Mosaic trisomy 8
  96070	Distal duplication 2p
  96074	Distal duplication 7p
  96098	Distal duplication 6q
  96123	Monosomy 22
  96167	Recombinant 8 syndrome
  96183	Maternal uniparental disomy of chromosome 9
  96186	Maternal uniparental disomy of chromosome 20
  96192	Paternal uniparental disomy of chromosome 7
  96195	Paternal uniparental disomy of chromosome 21
  96264	49,XXXXY syndrome
  97285	Thyroid lymphoma
  97292	Cardiogenic shock
  97337	Sinding-Larsen-Johansson disease
  97340	Hunter-McAlpine syndrome
  97364	Bilateral multicystic dysplastic kidney
  97548	Right sided atrial isomerism
  97685	17q11 microdeletion syndrome
  98676	Autosomal recessive isolated optic atrophy
  98758	Spinocerebellar ataxia type 6
  98763	Spinocerebellar ataxia type 14
  98768	Spinocerebellar ataxia type 13
  98772	Spinocerebellar ataxia type 19/22
  98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15
  98809	Paroxysmal kinesigenic dyskinesia
  98810	Paroxysmal non-kinesigenic dyskinesia
  98829	Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
  98852	Desquamative interstitial pneumonia
  98893	Congenital muscular dystrophy type 1B
  98895	Becker muscular dystrophy
  98904	Congenital myopathy with excess of thin filaments
  98919	Miller Fisher syndrome
  98920	Spinal muscular atrophy with respiratory distress type 1
  98946	Coloboma of eyelid
  98973	Posterior polymorphous corneal dystrophy
  99046	Double outlet right ventricle with non-committed subpulmonary ventricular septal defect
  99048	Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome
  99051	Discrete fixed membranous subaortic stenosis
  99055	Congenital anomaly of the tricuspid valve chordae
  99056	Parachute tricuspid valve
  99059	Congenital supravalvular mitral ring
  99060	Congenital unguarded mitral orifice
  99067	Complete atrioventricular septal defect with ventricular hypoplasia
  99075	Encircling double aortic arch
  99103	Atrial septal defect, ostium secundum type
  99106	Atrial septal defect, ostium primum type
  99109	Persistent left superior vena cava connecting through coronary sinus to left-sided atrium
  99126	Congenital pulmonary vein atresia
  99135	6-phosphogluconate dehydrogenase deficiency
  99170	Tarsal kink syndrome
  99172	Euryblepharon
  99657	Primary dystonia, DYT2 type
  99735	Myotonia permanens
  99741	King-Denborough syndrome
  99742	Amish lethal microcephaly
  99771	Bifid uvula
  99797	Anodontia
  99818	Turcot syndrome with polyposis
  99826	Marburg hemorrhagic fever
  99832	Resistance to thyrotropin-releasing hormone syndrome
  99845	Genetic recurrent myoglobinuria
  99868	Thymic carcinoma
  99869	Thymic neuroendocrine carcinoma
  99916	Malignant Sertoli-Leydig cell tumor of the ovary
  99931	Idiopathic pulmonary hemosiderosis
  99941	Autosomal dominant Charcot-Marie-Tooth disease type 2G
  99942	Autosomal dominant Charcot-Marie-Tooth disease type 2I
  99946	Autosomal dominant Charcot-Marie-Tooth disease type 2A1
  99949	Charcot-Marie-Tooth disease type 4C
  99954	Charcot-Marie-Tooth disease type 4H
  100003	Intraneural perineurioma
  100032	Hypocalcified amelogenesis imperfecta
  100057	Renin-angiotensin-aldosterone system-blocker-induced angioedema
  100071	Mosaic trisomy 3
  100078	Ileal neuroendocrine tumor
  100079	Neuroendocrine neoplasm of appendix
  100082	Neuroendocrine tumor of anal canal
  100093	Carcinoid syndrome
  101011	Autosomal dominant spastic paraplegia type 31
  101028	Transaldolase deficiency
  101046	Autosomal dominant epilepsy with auditory features
  101049	Familial hypocalciuric hypercalcemia type 2
  101063	Situs inversus totalis
  101085	Charcot-Marie-Tooth disease type 1F
  101110	Spinocerebellar ataxia type 20
  104076	Leiomyosarcoma of small intestine
  137602	Corneal endotheliitis
  137605	Legius syndrome
  137667	Capillary malformation-arteriovenous malformation
  137686	Asherman syndrome
  137814	Macular amyloidosis
  137831	X-linked intellectual disability-cerebellar hypoplasia syndrome
  137867	Madras motor neuron disease
  137908	Hypotonia with lactic acidemia and hyperammonemia
  137917	Choanal atresia, unilateral
  139402	Drug reaction with eosinophilia and systemic symptoms
  139547	Distal spinal muscular atrophy type 3
  140436	Primary intraosseous venous malformation
  140944	CLOVES syndrome
  140963	Bilateral microtia-deafness-cleft palate syndrome
  140989	Primary angiitis of the central nervous system
  141077	Epignathus
  141096	Supernumerary nostril
  141118	Nasal encephalocele
  141127	Congenital tracheal stenosis
  141239	Median cleft of the upper lip and maxilla
  141333	Biemond syndrome type 2
  155838	Pinnae fistula or cyst
  155884	Coloboma of superior eyelid
  156728	Spondyloepimetaphyseal dysplasia, matrilin-3 type
  157798	Serrated polyposis syndrome
  157808	Congenital pseudoarthrosis of the limbs
  157826	Congenital epulis
  157832	Craniorhiny
  157846	Neuroferritinopathy
  157962	Oculoauricular syndrome, Schorderet type
  157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
  157997	Benign cephalic histiocytosis
  158014	Rosaï-Dorfman disease
  158048	Hemophagocytic syndrome associated with an infection
  158775	Smoldering systemic mastocytosis
  163699	Alveolar soft tissue sarcoma
  163931	Acrodermatitis continua of Hallopeau
  163934	Atopic keratoconjunctivitis
  165991	Exercise-induced hyperinsulinism
  166073	Pontocerebellar hypoplasia type 6
  166119	Isolated osteopoikilosis
  166260	Dentinogenesis imperfecta type 2
  166308	Benign infantile focal epilepsy with midline spikes and waves during sleep
  166415	Audiogenic seizures
  168454	Spondyloepimetaphyseal dysplasia, Geneviève type
  168544	Spondylometaphyseal dysplasia, Golden type
  168601	Congenital enteropathy due to enteropeptidase deficiency
  168612	Congenital deficiency in alpha-fetoprotein
  168984	CLAPO syndrome
  169085	Susceptibility to respiratory infections associated with CD8alpha chain mutation
  169110	Immunoglobulin heavy chain deficiency
  169799	Mild hemophilia B
  171220	Rectal duplication
  171433	Intermediate nemaline myopathy
  171442	Adult-onset nemaline myopathy
  171680	Lissencephaly due to TUBA1A mutation
  171719	Cutis laxa-Marfanoid syndrome
  171723	White sponge nevus
  178311	Isolated sternocostoclavicular hyperostosis
  178364	Syndromic microphthalmia type 5
  178461	X-linked myopathy with postural muscle atrophy
  178522	Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma
  179490	Obesity due to congenital leptin resistance
  180074	True unicornuate uterus
  180129	Partial septate uterus
  180154	Septate vagina
  180157	Longitudinal vaginal septum
  180160	Transverse vaginal septum
  180176	Familial juvenile hypertrophy of the breast
  180267	Giant adenofibroma of the breast
  180275	Paget disease of the nipple
  189466	Familial isolated hypoparathyroidism due to impaired PTH secretion
  199293	Congenital microgastria
  199340	Muscular dystrophy, Selcen type
  199343	EAST syndrome
  199647	Isolated encephalocele
  206443	Late-infantile/juvenile Krabbe disease
  206489	Malignant germ cell tumor of the vagina
  209341	DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy
  209970	Episodic ataxia type 7
  210115	Sterile multifocal osteomyelitis with periostitis and pustulosis
  210133	Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome
  210159	Adult hepatocellular carcinoma
  210548	Macrocephaly-intellectual disability-autism syndrome
  210584	Spindle cell hemangioma
  213802	Rhabdomyosarcoma of the cervix uteri
  216828	Osteogenesis imperfecta type 5
  217008	Bockenheimer syndrome
  217059	Isolated congenital digital clubbing
  217085	Mucopolysaccharidosis type 2, severe form
  217330	REN-related autosomal dominant tubulointerstitial kidney disease
  217467	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
  220493	Joubert syndrome with ocular defect
  221098	Glossopharyngeal neuralgia
  226316	Genetic transient congenital hypothyroidism
  227976	Autosomal recessive optic atrophy, OPA7 type
  227990	Autoimmune polyendocrinopathy type 4
  228165	Baló concentric sclerosis
  228169	Autosomal dominant striatal neurodegeneration
  228337	CLN10 disease
  228426	Syndromic multisystem autoimmune disease due to Itch deficiency
  229717	Isolated agammaglobulinemia
  230800	Toxin-mediated infectious botulism
  230839	Classical-like Ehlers-Danlos syndrome type 1
  231147	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
  231500	Hermansky-Pudlak syndrome due to BLOC-3 deficiency
  231580	Primary unilateral adrenal hyperplasia
  231736	Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome
  238459	SLC35A1-CDG
  238475	Familial hypercholanemia
  238578	Familial clubfoot due to 17q23.1q23.2 microduplication
  238650	Congenital primary megaureter, refluxing form
  238654	Congenital primary megaureter, nonrefluxing and unobstructed form
  240760	Nijmegen breakage syndrome-like disorder
  244275	De novo thrombotic microangiopathy after kidney transplantation
  247203	Collecting duct carcinoma
  247585	Citrullinemia type II
  247651	Infantile hypophosphatasia
  247718	Inflammatory myopathy with abundant macrophages
  247790	FTH1-related iron overload
  248408	Familial hypodysfibrinogenemia
  250831	Logopenic progressive aphasia
  251014	2q31.1 microdeletion syndrome
  251066	8p11.2 deletion syndrome
  251325	Drug-induced vasculitis
  251589	Anaplastic astrocytoma
  251598	Protoplasmic astrocytoma
  251646	Anaplastic ependymoma
  251863	Desmoplastic/nodular medulloblastoma
  251912	Pineocytoma
  251992	Ganglioneuroma
  252015	Choriocarcinoma of the central nervous system
  252031	Diffuse leptomeningeal melanocytosis
  252183	Neurofibroma
  254411	Annular atrophic lichen planus
  254492	Frontal fibrosing alopecia
  254704	Genetic hyperferritinemia without iron overload
  254854	Pure mitochondrial myopathy
  254886	Autosomal recessive progressive external ophthalmoplegia
  254930	Combined oxidative phosphorylation defect type 7
  255235	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
  261183	15q11.2 microdeletion syndrome
  261229	14q11.2 microduplication syndrome
  261257	Distal 17p13.3 microdeletion syndrome
  261311	20q13.33 microdeletion syndrome
  261483	Xq27.3q28 duplication syndrome
  261619	Alagille syndrome due to a JAG1 point mutation
  263482	Spondyloepiphyseal dysplasia, Maroteaux type
  268129	Spheroid body myopathy
  268322	Hereditary thrombocytopenia with normal platelets
  268936	Isolated arhinencephaly
  269206	Isolated total cerebellar vermis agenesis
  269215	Isolated Dandy-Walker malformation without hydrocephalus
  275543	L1 syndrome
  276234	Non-syndromic male infertility due to sperm motility disorder
  276422	10q22.3q23.3 microduplication syndrome
  279888	Acute endophthalmitis
  279904	Primary intraocular lymphoma
  279919	Infectious posterior uveitis
  280068	Visceral calciphylaxis
  280282	Pelizaeus-Merzbacher-like disease due to GJC2 mutation
  280406	Familial steroid-resistant nephrotic syndrome with sensorineural deafness
  280598	Hereditary sensorimotor neuropathy with hyperelastic skin
  280628	Familial progressive hyper- and hypopigmentation
  280633	Multiple congenital anomalies-hypotonia-seizures syndrome
  280654	Autosomal recessive nail dysplasia
  280821	Communicating congenital bronchopulmonary-foregut malformation
  284149	Craniosynostosis-dental anomalies
  284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form
  284460	Acute annular outer retinopathy
  289362	Non-central nervous system-localized embryonal carcinoma
  289465	Isolated congenital adermatoglyphia
  289504	Combined malonic and methylmalonic acidemia
  289539	BAP1-related tumor predisposition syndrome
  289560	Mitochondrial membrane protein-associated neurodegeneration
  293165	Skin fragility-woolly hair-palmoplantar keratoderma syndrome
  293208	Celiac artery compression syndrome
  293633	PYCR1-related De Barsy syndrome
  293707	Blepharophimosis-intellectual disability syndrome, MKB type
  293812	Fixed drug eruption
  293822	MITF-related melanoma and renal cell carcinoma predisposition syndrome
  293899	Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
  293910	Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
  293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy
  294988	Congenital hypoplasia of thumb
  295014	Familial isolated clinodactyly of fingers
  295022	Congenital pseudoarthrosis of the fibula
  295024	Congenital pseudoarthrosis of the radius
  295215	Humero-ulnar synostosis, bilateral
  295227	Congenital elbow dislocation, bilateral
  295232	Congenital genu flexum
  300373	X-linked acrogigantism
  300552	Follicular cholangitis and pancreatitis
  300849	Diffuse large B-cell lymphoma of the central nervous system
  300857	T-cell/histiocyte rich large B cell lymphoma
  300865	Primary cutaneous anaplastic large cell lymphoma
  306516	Primary hypomagnesemia with hypercalciuria and nephrocalcinosis
  306553	Myospherulosis
  307936	Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
  308655	Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
  309252	Atypical Gaucher disease due to saposin C deficiency
  313892	Developmental and speech delay due to SOX5 deficiency
  314022	Gastric adenocarcinoma and proximal polyposis of the stomach
  314029	High bone mass osteogenesis imperfecta
  314034	7p22.1 microduplication syndrome
  314051	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
  314373	Chronic infantile diarrhea due to guanylate cyclase 2C overactivity
  314376	Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
  314381	Hereditary sensory and autonomic neuropathy type 6
  314394	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
  314399	Autosomal dominant aplasia and myelodysplasia
  314451	Meigs syndrome
  314478	Ovarian fibrothecoma
  314566	Primary progressive apraxia of speech
  314621	Duplication of the pituitary gland
  314637	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  314769	Somatomammotropinoma
  314795	SHOX-related short stature
  314918	Mild Canavan disease
  314993	Cataract-congenital heart disease-neural tube defect syndrome
  317428	Combined immunodeficiency due to ORAI1 deficiency
  319192	Diencephalic-mesencephalic junction dysplasia
  319205	Bilateral massive adrenal hemorrhage
  319218	Ebola hemorrhagic fever
  319276	Clear cell renal carcinoma
  319509	Combined oxidative phosphorylation defect type 9
  319519	Combined oxidative phosphorylation defect type 14
  319574	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
  319635	Amyloidosis cutis dyschromia
  319646	PGM1-CDG
  319675	Microcephalic primordial dwarfism, Dauber type
  320396	Autosomal recessive spastic paraplegia type 45
  320406	Spastic paraplegia-optic atrophy-neuropathy syndrome
  324422	ALG13-CDG
  324525	Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation
  324604	Classic multiminicore myopathy
  324723	ABeta amyloidosis, Arctic type
  325345	46,XY ovotesticular difference of sex development
  325529	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
  329195	Developmental delay with autism spectrum disorder and gait instability
  330064	Chronic actinic dermatitis
  352596	Progressive myoclonic epilepsy with dystonia
  352629	16q24.1 microdeletion syndrome
  352675	X-linked Charcot-Marie-Tooth disease type 6
  352731	Oculocutaneous albinism type 1
  353217	Epileptic encephalopathy with global cerebral demyelination
  353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
  353351	Idiopathic macular telangiectasia type 3
  357034	Non-hereditary retinoblastoma
  357043	Amyotrophic lateral sclerosis type 4
  357058	Autosomal recessive cutis laxa type 2A
  357220	Primary essential cutis verticis gyrata
  363417	Temtamy preaxial brachydactyly syndrome
  363741	Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
  363969	Autosomal recessive cerebral atrophy
  364013	Immune hydrops fetalis
  364043	ALK-positive large B-cell lymphoma
  369897	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
  369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
  370052	SCALP syndrome
  370109	Ataxia-telangiectasia variant
  370927	SSR4-CDG
  391343	Fatal post-viral neurodegenerative disorder
  391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome
  391392	Familial episodic pain syndrome with predominantly lower limb involvement
  391641	Feingold syndrome type 1
  397725	COASY protein-associated neurodegeneration
  397937	Polyglucosan body myopathy type 1
  398097	Neonatal antiphospholipid syndrome
  398127	Neonatal scleroderma
  399096	Distal anoctaminopathy
  399307	Idiopathic avascular necrosis
  401942	Familial median cleft of the upper and lower lips
  401986	1p31p32 microdeletion syndrome
  404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  404463	Multisystemic smooth muscle dysfunction syndrome
  404466	Female infertility due to zona pellucida defect
  404493	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
  411527	Central retinal vein occlusion
  411536	Mild phosphoribosylpyrophosphate synthetase superactivity
  411593	Insulin autoimmune syndrome
  420556	Visual snow syndrome
  420686	Woolly hair-palmoplantar keratoderma syndrome
  424019	Squamous cell carcinoma of the anal canal
  424027	Progressive myoclonic epilepsy type 8
  424261	TOR1AIP1-related limb-girdle muscular dystrophy
  424943	Adenocarcinoma of the liver and intrahepatic biliary tract
  424991	Adenocarcinoma of the gallbladder and extrahepatic biliary tract
  431341	Patent urachus
  434179	Orofaciodigital syndrome type 14
  438117	Steel syndrome
  438279	Human infection by orthopoxvirus
  439762	Systemic polyarteritis nodosa
  439881	Plastic bronchitis
  440437	Familial colorectal cancer Type X
  440731	L-ferritin deficiency
  443159	Lymphoplasmacytic lymphoma without IgM production
  443162	NDE1-related microhydranencephaly
  443192	Classic stiff person syndrome
  443291	HIV-associated cancer
  443804	Focal stiff limb syndrome
  443995	Mandibulofacial dysostosis with alopecia
  444048	46,XX ovarian dysgenesis-short stature syndrome
  444051	20q11.2 microdeletion syndrome
  444072	Cerebellar-facial-dental syndrome
  444316	Idiopathic phalangeal acro-osteolysis
  445038	3-methylglutaconic aciduria type 7
  447757	Autosomal dominant spastic paraplegia type 9B
  447760	Autosomal recessive spastic paraplegia type 9B
  447774	Secondary sclerosing cholangitis
  448267	Regressive spondylometaphyseal dysplasia
  449432	IgG4-related submandibular gland disease
  449566	Eosinophilic angiocentric fibrosis
  453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
  454706	Progressive muscular atrophy
  454831	Acute radiation syndrome
  454887	Corticobasal syndrome
  7	3C syndrome
  22	Succinic semialdehyde dehydrogenase deficiency
  25	Glutaryl-CoA dehydrogenase deficiency
  28	Vitamin B12-responsive methylmalonic acidemia
  31	Oxoglutaric aciduria
  32	Glutathione synthetase deficiency
  42	Medium chain acyl-CoA dehydrogenase deficiency
  51	Aicardi-Goutières syndrome
  54	X-linked recessive ocular albinism
  57	Glycogen storage disease due to aldolase A deficiency
  61	Alpha-mannosidosis
  72	Angelman syndrome
  100	Ataxia-telangiectasia
  105	Atresia of urethra
  122	Birt-Hogg-Dubé syndrome
  124	Diamond-Blackfan anemia
  456328	X-linked myotubular myopathy-abnormal genitalia syndrome
  457378	Complex lethal osteochondrodysplasia
  458758	Composite hemangioendothelioma
  458763	Retiform hemangioendothelioma
  459033	Ataxia-oculomotor apraxia type 4
  459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
  464321	Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome
  464336	BENTA disease
  466670	Cyanide poisoning
  466677	Scorpion envenomation
  466806	Autosomal dominant thrombocytopenia with platelet secretion defect
  466943	WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
  468631	Microcephalic cortical malformations-short stature due to RTTN deficiency
  468717	Rhizomelic chondrodysplasia punctata type 5
  476084	BVES-related limb-girdle muscular dystrophy
  476406	Congenital generalized hypercontractile muscle stiffness syndrome
  477650	Fibroblastic rheumatism
  477684	Combined oxidative phosphorylation defect type 26
  477774	Combined oxidative phosphorylation defect type 27
  478029	Combined oxidative phosphorylation defect type 29
  480536	MSH3-related attenuated familial adenomatous polyposis
  485350	CLCN4-related X-linked intellectual disability syndrome
  488632	TBCK-related intellectual disability syndrome
  488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome
  494448	Vulvar squamous cell carcinoma
  496756	Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
  497188	Diffuse intrinsic pontine glioma
  497757	MME-related autosomal dominant Charcot Marie Tooth disease type 2
  498228	Phyllodes tumor of the prostate
  498474	Hyaline fibromatosis syndrome
  499009	Congenital syphilis
  500095	Tall stature-intellectual disability-renal anomalies syndrome
  500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
  500464	Squamous cell carcinoma of the nasal cavity and paranasal sinuses
  502366	Squamous cell carcinoma of the lip
  504523	Severe combined immunodeficiency due to LAT deficiency
  505208	3-methylglutaconic aciduria type 8
  505227	Combined immunodeficiency due to GINS1 deficiency
  506098	Neuroendocrine carcinoma of pancreas
  506307	Stromme syndrome
  508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
  512017	Chronic lymphoproliferative disorder of natural killer cells
  513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
  519390	Isolated blepharochalasis
  519410	Terrien marginal degeneration
  521305	Proximal myopathy with focal depletion of mitochondria
  521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect
  527468	Diaphragmatic hernia-short bowel-asplenia syndrome
  528084	Non-specific syndromic intellectual disability
  530995	Mixed phenotype acute leukemia
  536532	Classical-like Ehlers-Danlos syndrome type 2
  538096	Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
  542301	Combined immunodeficiency due to CARMIL2 deficiency
  555402	NAD(P)HX dehydratase deficiency
  562639	Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome
  563671	Mucinous cystadenoma of childhood
  563684	Furuncular myiasis due to Dermatobia hominis
  563687	Furuncular myiasis due to Cordylobia anthropophaga
  563708	Syndromic congenital sodium diarrhea
  563991	Osteochondrosis of the tarsal bone
  143	Parathyroid carcinoma
  150	Nasopharyngeal carcinoma
  159	Carnitine-acylcarnitine translocase deficiency
  175	Cartilage-hair hypoplasia
  178	Chordoma
  180	Choroideremia
  188	Systemic capillary leak syndrome
  207	Crouzon syndrome
  215	Congenital stationary night blindness
  221	Dermatomyositis
  226	Dihydropteridine reductase deficiency
  229	Familial aortic dissection
  238	Digestive duplication
  240	Léri-Weill dyschondrosteosis
  277	Severe combined immunodeficiency due to adenosine deaminase deficiency
  293	Congenital herpes simplex virus infection
  316	Progressive symmetric erythrokeratodermia
  347	Frasier syndrome
  351	Galactosialidosis
  354	GM1 gangliosidosis
  356	Gerstmann-Straussler-Scheinker syndrome
  358	Gitelman syndrome
  360	Glioblastoma
  364	Glycogen storage disease due to glucose-6-phosphatase deficiency
  380	Greig cephalopolysyndactyly syndrome
  388	Hirschsprung disease
  391	Classic Hodgkin lymphoma
  400	Cystic echinococcosis
  457	Harlequin ichthyosis
  475	Joubert syndrome
  478	Kallmann syndrome
  480	Kearns-Sayre syndrome
  523	Hereditary leiomyomatosis and renal cell cancer
  525	Lichen planopilaris
  531	Miller-Dieker syndrome
  576	Mucolipidosis type II
  578	Mucolipidosis type IV
  596	X-linked centronuclear myopathy
  597	Central core disease
  603	Distal myopathy, Welander type
  618	Familial melanoma
  627	Nance-Horan syndrome
  642	Hereditary sensory and autonomic neuropathy type 4
  647	Nijmegen breakage syndrome
  648	Noonan syndrome
  653	Multiple endocrine neoplasia type 2
  659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques
  677	Pancreatoblastoma
  704	Pemphigus vulgaris
  705	Pendred syndrome
  707	Plague
  710	Pfeiffer syndrome
  728	Relapsing polychondritis
  733	Familial adenomatous polyposis
  749	Congenital prekallikrein deficiency
  763	Pycnodysostosis
  764	Pyomyositis
  777	X-linked non-syndromic intellectual disability
  567983	Parenteral nutrition-associated cholestasis
  568062	PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis
  570371	Bartter syndrome type 5
  570431	Idiopathic multicentric Castleman disease
  570762	Infective endocarditis
  572428	Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia
  572550	RFVT3-related riboflavin transporter deficiency
  573253	Split cord malformation type II
  574957	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency
  580933	Lethal brain and heart developmental defects
  581271	Cramp-fasciculation syndrome
  583861	Isolated mesenteric vein thrombosis
  585942	B-lymphoblastic leukemia/lymphoma with hypodiploidy
  589442	Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome
  589547	GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
  592570	TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome
  595098	Timothy syndrome type 1
  597733	Oculocutaneous albinism type 8
  597738	Luscan-Lumish syndrome
  598603	Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome
  599082	CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome
  599418	Hereditary angioedema with normal C1Inh not related to F12 or PLG variant
  603684	KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome
  604680	Symptomatic form of X-linked centronuclear myopathy in female carriers
  610569	KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome
  611237	Parkinsonism with polyneuropathy
  613274	Pontocerebellar hypoplasia type 14
  619233	Hereditary persistence of fetal hemoglobin-intellectual disability syndrome
  620217	Bartter syndrome type 1
  620220	Bartter syndrome type 2
  623801	Acute flaccid myelitis
  631088	Autosomal recessive spastic paraplegia type 87
  631095	Spinocerebellar ataxia type 44
  633014	SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome
  633021	SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome
  633099	PAICS deficiency
  637064	Isolated optic nerve aplasia
  641353	Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome
  641375	B-lymphoblastic leukemia/lymphoma with t(17;19)
  642071	Primary pulmonary vein stenosis
  642099	Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type
  642671	Familial hyperaldosteronism type IV
  642747	PUM1-related cerebellar ataxia
  642965	Autosomal recessive ataxia due to PEX2 deficiency
  643549	Hao-Fountain syndrome
  645378	Myelic limited dorsal malformation
  645617	Amyopathic dermatomyositis
  645793	Spontaneous intestinal perforation
  645822	Primary bone and joint tuberculosis
  645849	Primary cutaneous tuberculosis
  645859	Primary tuberculosis of the digestive system
  646139	Dysplastic cortical hyperostosis
  647811	Cardiac-urogenital syndrome
  648562	Ferroportin Disease
  648675	Idiopathic scleritis
  648684	Central retinal artery occlusion
  779	Reynolds syndrome
  812	Sialidosis type 1
  816	Sjögren-Larsson syndrome
  821	Sotos syndrome
  847	Alpha-thalassemia-X-linked intellectual disability syndrome
  849	Glanzmann thrombasthenia
  869	Triple A syndrome
  873	Desmoid tumor
  875	Primary pediatric heart tumor
  876	Yolk sac tumor
  882	Tyrosinemia type 1
  887	VACTERL/VATER association
  888	Van der Woude syndrome
  891	Familial exudative vitreoretinopathy
  895	Waardenburg syndrome type 2
  900	Granulomatosis with polyangiitis
  910	Xeroderma pigmentosum
  922	Familial nasal acilia
  932	Achondrogenesis
  955	Hajdu-Cheney syndrome
  977	Adrenomyodystrophy
  980	Absence of the pulmonary artery
  991	PAGOD syndrome
  998	Albinism-deafness syndrome
  1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia
  1018	X-linked Alport syndrome-diffuse leiomyomatosis
  1051	Ramos-Arroyo syndrome
  1064	Aniridia-renal agenesis-psychomotor retardation syndrome
  1065	Aniridia-cerebellar ataxia-intellectual disability syndrome
  1070	Anisakiasis
  1121	Radial deficiency-tibial hypoplasia syndrome
  1134	Isolated arrhinia
  1143	Neurogenic arthrogryposis multiplex congenita
  1171	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
  1174	Cerebellar ataxia-ectodermal dysplasia syndrome
  1177	Early-onset cerebellar ataxia with retained tendon reflexes
  1192	Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
  1217	Spinal atrophy-ophthalmoplegia-pyramidal syndrome
  1236	Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
  1241	Bencze syndrome
  1243	Best vitelliform macular dystrophy
  1259	Blepharoptosis-myopia-ectopia lentis syndrome
  1263	Boomerang dysplasia
  1292	Brachymorphism-onychodysplasia-dysphalangism syndrome
  1296	Lambert syndrome
  1300	Autosomal dominant popliteal pterygium syndrome
  1323	Camptodactyly-joint contractures-facial skeletal defects syndrome
  1329	Complete atrioventricular septal defect
  1344	Atrial standstill
  1355	Congenital heart defect-round face-developmental delay syndrome
  1366	Autosomal recessive palmoplantar keratoderma and congenital alopecia
  1412	Tarsal-carpal coalition syndrome
  1426	Greenberg dysplasia
  1435	Xq21 microdeletion syndrome
  1452	Cleidocranial dysplasia
  1455	Autosomal dominant coarctation of aorta
  1460	Isolated complex III deficiency
  1461	Criss-cross heart
  1514	Craniodigital-intellectual disability syndrome
  1528	Craniotelencephalic dysplasia
  1544	Benign focal seizures of adolescence
  1552	Currarino syndrome
  1653	Dentin dysplasia
  1655	Müllerian derivatives-lymphangiectasia-polydactyly syndrome
  1656	Dermatitis herpetiformis
  1659	Dermatoleukodystrophy
  1666	Dextrocardia
  1670	Chronic diarrhea with villous atrophy
  1677	Familial idiopathic dilatation of the right atrium
  1695	Non-distal duplication 10q
  1698	Mosaic trisomy 12
  1708	Mosaic trisomy 16
  1716	Distal duplication 18q
  1717	Distal duplication 19q
  1807	Focal facial dermal dysplasia type III
  1816	Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
  1824	Lowry-Wood syndrome
  1848	Renal agenesis, bilateral
  1867	Hereditary bullous dystrophy, macular type
  1873	Jalili syndrome
  1880	Ebstein malformation of the tricuspid valve
  1901	Dermatosparaxis Ehlers-Danlos syndrome
  1917	Fetal methylmercury syndrome
  1919	Phenobarbital embryopathy
  1930	Herpes simplex virus encephalitis
  1952	Epiphyseal stippling-osteoclastic hyperplasia syndrome
  1962	Exostoses-anetodermia-brachydactyly type E syndrome
  1972	Lethal faciocardiomelic dysplasia
  1974	Autosomal recessive faciodigitogenital syndrome
  2006	Median cleft lip/mandible
  2031	Hepatic fibrosis-renal cysts-intellectual disability syndrome
  2037	Congenital aortopulmonary window
  2053	Freeman-Sheldon syndrome
  2063	Splenogonadal fusion-limb defects-micrognathia syndrome
  2084	Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome
  2086	Optic pathway glioma
  2108	Hallermann-Streiff syndrome
  2114	Hip dysplasia, Beukes type
  2135	Hennekam-Beemer syndrome
  2138	46,XX ovotesticular difference of sex development
  2148	Lissencephaly type 1 due to doublecortin gene mutation
  2149	Nodular neuronal heterotopia
  2152	Mowat-Wilson syndrome
  2163	Holoprosencephaly-craniosynostosis syndrome
  2183	Hydrocephalus-obesity-hypogonadism syndrome
  2216	Maternal hyperthermia-induced birth defects
  2238	Familial isolated hypoparathyroidism
  2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome
  2260	Oligomeganephronia
  2287	Fused mandibular incisors
  2318	Joubert syndrome with oculorenal defect
  2337	Non-epidermolytic palmoplantar keratoderma
  2349	Muscular pseudohypertrophy-hypothyroidism syndrome
  2369	Limb body wall complex
  2370	Larsen-like osseous dysplasia-short stature syndrome
  2373	Congenital laryngomalacia
  2377	Laurence-Moon syndrome
  2386	Leukoencephalopathy-palmoplantar keratoderma syndrome
  2391	Congenitally short costocoracoid ligament
  2396	Encephalocraniocutaneous lipomatosis
  2444	Congenital pulmonary airway malformation
  2473	McKusick-Kaufman syndrome
  2482	Melhem-Fahl syndrome
  2487	Lower limb malformation-hypospadias syndrome
  2499	Metachondromatosis
  2513	Microcephaly-albinism-digital anomalies syndrome
  2547	Microphthalmia-microtia-fetal akinesia syndrome
  2556	Microphthalmia with linear skin defects syndrome
  2563	MOMO syndrome
  2611	Linear verrucous nevus syndrome
  2688	Adult idiopathic neutropenia
  2704	Ochoa syndrome
  2724	Odontomatosis-aortae esophagus stenosis syndrome
  2741	Ophthalmomandibulomelic dysplasia
  2767	Carpotarsal osteochondromatosis
  2774	Multicentric carpo-tarsal osteolysis with or without nephropathy
  2776	Autosomal recessive distal osteolysis syndrome
  2828	Young-onset Parkinson disease
  2854	Fuhrmann syndrome
  2863	Short stature-wormian bones-dextrocardia syndrome
  2872	Cardiocranial syndrome, Pfeiffer type
  2879	Phocomelia, Schinzel type
  2882	Sitosterolemia
  2908	Kindler epidermolysis bullosa
  2917	Polydactyly-myopia syndrome
  2934	Polysyndactyly-cardiac malformation syndrome
  2941	Porencephaly-cerebellar hypoplasia-internal malformations syndrome
  2952	Adducted thumbs-arthrogryposis syndrome, Christian type
  2970	Prune belly syndrome
  3003	Pyknoachondrogenesis
  3027	Caudal regression syndrome
  3032	NPHP3-related Meckel-like syndrome
  3033	Renal tubular dysgenesis
  3041	Intellectual disability-balding-patella luxation-acromicria syndrome
  3079	Intellectual disability, Buenos-Aires type
  3099	Rheumatic fever
  3102	Richieri Costa-Pereira syndrome
  3157	Septo-optic dysplasia spectrum
  3165	Eosinophilic fasciitis
  3167	Siegler-Brewer-Carey syndrome
  3190	Subpulmonary stenosis
  3194	Corneodermatoosseous syndrome
  3199	Stimmler syndrome
  3203	Overhydrated hereditary stomatocytosis
  3204	Stormorken-Sjaastad-Langslet syndrome
  3208	Isolated succinate-CoQ reductase deficiency
  3218	Deafness-epiphyseal dysplasia-short stature syndrome
  3233	Cochleosaccular degeneration-cataract syndrome
  3237	Multiple synostoses syndrome
  3243	Sweet syndrome
  3273	Synovial sarcoma
  3294	Extensor tendons of finger anomalies
  3309	Tetrasomy 5p
  3310	Tetrasomy 9p
  3326	Thymic-renal-anal-lung dysplasia
  3327	Thyrocerebrorenal syndrome
  3337	Primary Fanconi renotubular syndrome
  3384	Truncus arteriosus
  3437	Vogt-Koyanagi-Harada disease
  3467	Hereditary xanthinuria
  3473	Zimmermann-Laband syndrome
  3474	CHIME syndrome
  25980	X-linked myopathy with excessive autophagy
  26349	Protein S acquired deficiency
  26793	Very long chain acyl-CoA dehydrogenase deficiency
  31150	Tangier disease
  33111	Granulomatous slack skin
  33226	Waldenström macroglobulinemia
  33355	Reticular dysgenesis
  35107	Desmosterolosis
  35121	Lysosomal acid phosphatase deficiency
  35664	ALDH18A1-related De Barsy syndrome
  35689	Primary lateral sclerosis
  35909	Combined deficiency of factor V and factor VIII
  36258	Buerger disease
  36899	Myoclonus-dystonia syndrome
  43117	Acute tricyclic antidepressant poisoning
  48918	Focal myositis
  49041	IgG4-related retroperitoneal fibrosis
  49804	Lichen amyloidosis
  51083	Familial short QT syndrome
  51084	Torsade-de-pointes syndrome with short coupling interval
  51890	Anterior cutaneous nerve entrapment syndrome
  52022	Potocki-Shaffer syndrome
  53296	Familial cutaneous collagenoma
  60014	Argyria
  63442	Angel-shaped phalango-epiphyseal dysplasia
  65288	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
  66633	Sensorineural hearing loss-early graying-essential tremor syndrome
  67041	Hyaluronidase deficiency
  67047	3-methylglutaconic aciduria type 3
  69078	Liposarcoma
  69126	PAPA syndrome
  70596	Congenital Epstein-Barr virus infection
  71213	Retinal capillary malformation
  71267	Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
  71271	Split hand-split foot-deafness syndrome
  71273	Renal nutcracker syndrome
  71277	Classic glucose transporter type 1 deficiency syndrome
  71278	Congenital brain dysgenesis due to glutamine synthetase deficiency
  71290	Familial platelet disorder with associated myeloid malignancy
  71517	Rapid-onset dystonia-parkinsonism
  71519	Psychogenic movement disorders
  71526	Obesity due to pro-opiomelanocortin deficiency
  71529	Obesity due to melanocortin 4 receptor deficiency
  75327	North Carolina macular dystrophy
  75376	Familial drusen
  75857	6q terminal deletion syndrome
  77301	Monosomy 9q22.3
  79091	Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
  79096	Pyridoxal phosphate-responsive seizures
  79128	Lymphoid interstitial pneumonia
  79140	Cutaneous neuroendocrine carcinoma
  79154	2-aminoadipic 2-oxoadipic aciduria
  79156	Seizures-intellectual disability due to hydroxylysinuria syndrome
  79257	GM1 gangliosidosis type 3
  79262	Adult neuronal ceroid lipofuscinosis
  79263	Infantile neuronal ceroid lipofuscinosis
  79282	Methylmalonic acidemia with homocystinuria, type cblC
  79283	Methylmalonic acidemia with homocystinuria, type cblD
  79299	Congenital glucokinase-related hyperinsulinism
  79301	Congenital bile acid synthesis defect type 1
  79321	ALG3-CDG
  79323	MPDU1-CDG
  79397	Epidermolysis bullosa simplex with mottled pigmentation
  79409	Recessive dystrophic epidermolysis bullosa inversa
  79443	Pseudohypoparathyroidism type 1A
  79447	X-linked lethal multiple pterygium syndrome
  79455	Cutaneous mastocytoma
  79456	Diffuse cutaneous mastocytosis
  79466	Inflammatory linear verrucous epidermal nevus
  79476	Griscelli syndrome type 1
  79477	Griscelli syndrome type 2
  79499	Autosomal dominant deafness-onychodystrophy syndrome
  83453	Vulvovaginal gingival syndrome
  83454	Glomuvenous malformation
  83468	Solitary bone cyst
  83471	T-cell immunodeficiency with thymic aplasia
  84090	Fibronectin glomerulopathy
  85162	Facial onset sensory and motor neuronopathy
  85168	Craniofacial conodysplasia
  85174	Pseudodiastrophic dysplasia
  85184	Craniometadiaphyseal dysplasia, wormian bone type
  85193	Idiopathic juvenile osteoporosis
  85201	Genitopatellar syndrome
  85212	Fetal Gaucher disease
  85277	X-linked intellectual disability, Cantagrel type
  85317	X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome
  85334	X-linked neurodegenerative syndrome, Bertini type
  85336	X-linked neurodegenerative syndrome, Hamel type
  85451	ATTRV122I amyloidosis
  85453	X-linked reticulate pigmentary disorder
  86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
  86830	Chronic myeloproliferative disease, unclassifiable
  86845	Acute myeloid leukaemia with myelodysplasia-related features
  86879	Extranodal nasal NK/T cell lymphoma
  86897	Langerhans cell sarcoma
  86906	Hypothalamic hamartomas with gelastic seizures
  86915	Lymphedema-atrial septal defects-facial changes syndrome
  86919	Keratosis palmaris et plantaris-clinodactyly syndrome
  87876	Sialidosis type 2
  88919	Autosomal recessive Alport syndrome
  88938	Pseudohypoaldosteronism type 2A
  88940	Pseudohypoaldosteronism type 2C
  90023	Primary immunodeficiency syndrome due to LAMTOR2 deficiency
  90031	Non-spherocytic hemolytic anemia due to hexokinase deficiency
  90037	Drug-induced autoimmune hemolytic anemia
  90042	Primary familial polycythemia
  90060	Diffuse alveolar hemorrhage
  90064	Acute peripheral arterial occlusion
  90065	Acquired aneurysmal subarachnoid hemorrhage
  90068	Cocaine intoxication
  90073	Hepatitis B reinfection following liver transplantation
  90078	Invasive infections due to vancomycin-resistant enterococci
  90154	Mandibuloacral dysplasia with type B lipodystrophy
  90156	Centrifugal lipodystrophy
  90158	Idiopathic localized lipodystrophy
  90281	Discoid lupus erythematosus
  90289	Localized scleroderma
  90342	Xeroderma pigmentosum variant
  90625	Rare X-linked non-syndromic sensorineural deafness type DFN
  90635	Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
  90796	46,XY difference of sex development due to isolated 17,20-lyase deficiency
  91359	Chronic pneumonitis of infancy
  91483	Rieger anomaly
  91491	Congenital ectropion uveae
  91492	Early-onset non-syndromic cataract
  93172	Renal dysplasia, unilateral
  93282	Spondyloepimetaphyseal dysplasia, PAPSS2 type
  93298	Achondrogenesis type 1B
  93299	Achondrogenesis type 1A
  93302	Brachyolmia, Maroteaux type
  93314	Spondylometaphyseal dysplasia, Kozlowski type
  93336	Polydactyly of a triphalangeal thumb
  93351	Spondyloepimetaphyseal dysplasia, Irapa type
  93384	Brachydactyly type C
  93403	Syndactyly type 2
  93557	Light and heavy chain deposition disease
  93601	Xanthinuria type I
  93605	Bartter syndrome type 3
  93952	X-linked intellectual disability, Hedera type
  94064	Deafness-infertility syndrome
  94086	Blue diaper syndrome
  94088	Hereditary renal hypouricemia
  94093	Neuroleptic malignant syndrome
  95513	Panhypophysitis
  95707	Idiopathic isolated micropenis
  96060	Mosaic trisomy 5
  96063	Mosaic trisomy 10
  96072	4p16.3 microduplication syndrome
  96078	16p13.3 microduplication syndrome
  96094	Distal duplication 2q
  96105	Distal duplication 13q
  96148	Distal deletion 10q
  96149	Distal deletion 12q
  96269	Isolated partial vaginal agenesis
  97214	Eisenmenger syndrome
  97252	Mega-cisterna magna
  97289	Thymic neuroendocrine tumor
  97335	Osgood-Schlatter disease
  97341	Persistent placoid maculopathy
  97678	Maternal uniparental disomy of chromosome 13
  98686	Congenital trochlear nerve palsy
  98764	Spinocerebellar ataxia type 27
  98797	Isochromosomy Yp
  98819	Familial temporal lobe epilepsy
  98853	Autosomal dominant Emery-Dreifuss muscular dystrophy
  98869	Congenital dyserythropoietic anemia type I
  98873	Congenital dyserythropoietic anemia type II
  98881	Familial dysfibrinogenemia
  98905	Congenital multicore myopathy with external ophthalmoplegia
  98909	Desminopathy
  98915	Synaptic congenital myasthenic syndromes
  98989	Cerulean cataract
  98991	Early-onset nuclear cataract
  99002	Reticular dystrophy of the retinal pigment epithelium
  99076	Persistent fifth aortic arch
  99090	Malposition of a coronary ostium
  99105	Atrial septal defect, sinus venosus type
  99118	Coronary sinus atresia
  99138	Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
  99177	Isolated distichiasis
  99642	Spondyloepimetaphyseal dysplasia, Handigodu type
  99647	Cheirospondyloenchondromatosis
  99725	Pituitary gigantism
  99732	Sulfite oxidase deficiency due to molybdenum cofactor deficiency
  99745	Typhoid
  99757	Embryonal rhabdomyosarcoma
  99776	Mosaic trisomy 9
  99827	Crimean-Congo hemorrhagic fever
  99828	Dengue fever
  99842	Leukocyte adhesion deficiency type I
  99843	Leukocyte adhesion deficiency type II
  99854	Cree leukoencephalopathy
  99860	Precursor B-cell acute lymphoblastic leukemia
  99915	Maligant granulosa cell tumor of the ovary
  99928	Placental site trophoblastic tumor
  99935	Pleuropulmonary blastoma type 3
  99937	Autosomal dominant Charcot-Marie-Tooth disease type 2C
  99945	Autosomal dominant Charcot-Marie-Tooth disease type 2L
  99956	Charcot-Marie-Tooth disease type 4B2
  99969	Pleomorphic liposarcoma
  99989	Intermediate DEND syndrome
  100002	Extraneural perineurioma
  100006	ABeta amyloidosis, Dutch type
  100011	Lissencephaly with cerebellar hypoplasia type A
  100016	Lissencephaly with cerebellar hypoplasia type F
  100045	Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
  100048	Tubular duplication of the esophagus
  100056	Acquired angioedema type 1
  100075	Neuroendocrine tumor of stomach
  100084	Middle ear neuroendocrine tumor
  100984	Autosomal dominant spastic paraplegia type 3
  100985	Autosomal dominant spastic paraplegia type 4
  100993	Autosomal dominant spastic paraplegia type 12
  101004	Autosomal recessive spastic paraplegia type 24
  101005	Autosomal recessive spastic paraplegia type 25
  101050	Familial hypocalciuric hypercalcemia type 3
  101068	Congenital stromal corneal dystrophy
  101077	X-linked Charcot-Marie-Tooth disease type 3
  101102	Charcot-Marie-Tooth disease type 2H
  101109	Spinocerebellar ataxia type 28
  101111	Spinocerebellar ataxia type 25
  102379	Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent
  102724	Acute myeloid leukemia with t(8;21)(q22;q22) translocation
  104077	Myopathic intestinal pseudoobstruction
  137583	Vulvar intraepithelial neoplasia
  137599	Herpes simplex virus stromal keratitis
  137608	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
  137625	Glycogen storage disease due to muscle and heart glycogen synthase deficiency
  137672	Pellucid marginal degeneration
  137776	Lethal congenital contracture syndrome type 2
  139423	Idiopathic acute transverse myelitis
  139455	Autosomal recessive bestrophinopathy
  139466	SERKAL syndrome
  139480	Autosomal recessive spastic paraplegia type 39
  139536	Distal hereditary motor neuropathy type 5
  139583	X-linked hereditary sensory and autonomic neuropathy with deafness
  140905	Hyperlipidemia due to hepatic triacylglycerol lipase deficiency
  140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome
  141000	Orofaciodigital syndrome type 11
  141051	Facial dermoid cyst
  141099	Proboscis lateralis
  141132	Oculo-auriculo-vertebral spectrum
  141209	Diffuse lymphatic malformation
  141258	Tessier number 4 facial cleft
  141291	Cleft lip and alveolus
  141327	Orofaciodigital syndrome type 12
  157769	Situs ambiguus
  157954	ANE syndrome
  157973	Congenital muscular dystrophy due to LMNA mutation
  158003	Xanthoma disseminatum
  158008	Papular xanthoma
  158673	Localized dystrophic epidermolysis bullosa, acral form
  158687	Lethal acantholytic erosive disorder
  163681	CNTNAP2-related developmental and epileptic encephalopathy
  163703	Febrile infection-related epilepsy syndrome
  163721	Rolandic epilepsy-speech dyspraxia syndrome
  163971	X-linked intellectual disability, Cilliers type
  165955	Wound myiasis
  166093	Von Willebrand disease type 2N
  166272	Odontochondrodysplasia
  166302	Benign partial epilepsy with secondarily generalized seizures in infancy
  166305	Benign infantile seizures associated with mild gastroenteritis
  166430	Micturation-induced seizures
  168563	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
  168588	Hyperandrogenism due to cortisone reductase deficiency
  168629	Autosomal thrombocytopenia with normal platelets
  168632	Generalized basaloid follicular hamartoma syndrome
  168960	Refractory anemia with excess blasts in transformation
  168966	Composite lymphoma
  169142	Recurrent infection due to specific granule deficiency
  171439	Childhood-onset nemaline myopathy
  171844	Blindness-scoliosis-arachnodactyly syndrome
  171871	Renal pseudohypoaldosteronism type 1
  171886	Cylindrical spirals myopathy
  177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
  178307	Reticulate acropigmentation of Kitamura
  178382	Congenital vertical talus
  178400	Distal myopathy with anterior tibial onset
  178493	Myopic macular degeneration
  180106	Bicervical bicornuate uterus and blind hemivagina
  180237	Benign tumor of fallopian tubes
  183666	Hyper-IgM syndrome without susceptibility to opportunistic infections
  183713	Bacterial susceptibility due to TLR signaling pathway deficiency
  189427	Cushing syndrome due to bilateral macronodular adrenocortical disease
  199282	Harlequin syndrome
  199318	15q13.3 microdeletion syndrome
  206583	Adult polyglucosan body disease
  206586	Neurolymphomatosis
  208444	Bilateral frontal polymicrogyria
  209004	Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy
  209916	Extraskeletal myxoid chondrosarcoma
  209973	Benign nocturnal alternating hemiplegia of childhood
  210163	Congenital lethal myopathy, Compton-North type
  213625	Leiomyosarcoma of the corpus uteri
  213777	High-grade neuroendocrine carcinoma of the cervix uteri
  216812	Osteogenesis imperfecta type 3
  216975	Niemann-Pick disease type C, severe early infantile neurologic onset
  217017	Zechi-Ceide syndrome
  217335	RIN2 syndrome
  217390	Combined immunodeficiency due to DOCK8 deficiency
  217407	Hereditary hypotrichosis with recurrent skin vesicles
  220436	Quebec platelet disorder
  221043	Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome
  228157	Marburg acute multiple sclerosis
  228179	Autosomal dominant Charcot-Marie-Tooth disease type 2M
  228227	Late-onset focal dermal elastosis
  228247	Acquired pseudoxanthoma elasticum
  228302	Carnitine palmitoyl transferase II deficiency, myopathic form
  228343	CLN4B disease
  228357	CLN9 disease
  228384	5q14.3 microdeletion syndrome
  228396	Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
  228415	5q35 microduplication syndrome
  230851	Cardiac-valvular Ehlers-Danlos syndrome
  231137	Silver-Russell syndrome due to 7p11.2p13 microduplication
  231160	Familial cerebral saccular aneurysm
  231183	Usher syndrome type 3
  231214	Beta-thalassemia major
  231222	Beta-thalassemia intermedia
  231445	Paraparetic variant of Guillain-Barré syndrome
  231457	Acute pandysautonomia
  231466	Acute sensory ataxic neuropathy
  231556	Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
  231573	Congenital erosive and vesicular dermatosis
  231662	Isolated growth hormone deficiency type IA
  231679	Isolated growth hormone deficiency type II
  231692	Isolated growth hormone deficiency type III
  238455	Infantile dystonia-parkinsonism
  238505	Combined immunodeficiency due to CD27 deficiency
  238621	Ileal pouch anal anastomosis related faecal incontinence
  238744	Mammary-digital-nail syndrome
  238750	4q21 microdeletion syndrome
  240103	Progressive supranuclear palsy-corticobasal syndrome
  244242	HELLP syndrome
  244310	RFT1-CDG
  247165	Infantile mercury poisoning
  247234	Sporadic adult-onset ataxia of unknown etiology
  247257	Inhalational anthrax
  247353	Generalized pustular psoriasis
  247546	Acute neonatal citrullinemia type I
  247604	Juvenile primary lateral sclerosis
  247623	Perinatal lethal hypophosphatasia
  247798	MUTYH-related attenuated familial adenomatous polyposis
  247806	APC-related attenuated familial adenomatous polyposis
  247834	Occult macular dystrophy
  250977	AICA-ribosiduria
  250984	Autosomal recessive Stickler syndrome
  251038	3q29 microduplication syndrome
  251056	6q25 microdeletion syndrome
  251071	8p23.1 microdeletion syndrome
  251290	Parietal foramina with clavicular hypoplasia
  251365	Sickle cell-hemoglobin C disease syndrome
  251383	CK syndrome
  251523	Hyperzincemia and hypercalprotectinemia
  251595	Diffuse astrocytoma
  251679	Astroblastoma
  251899	Choroid plexus carcinoma
  251919	Pineal parenchymal tumor of intermediate differenciation
  252175	Vestibular schwannoma
  254504	Inhalational botulism
  254509	Iatrogenic botulism
  254693	Partial hydatidiform mole
  254892	Autosomal dominant progressive external ophthalmoplegia
  254920	Combined oxidative phosphorylation defect type 2
  254925	Combined oxidative phosphorylation defect type 4
  255182	Pyruvate dehydrogenase E3-binding protein deficiency
  255229	Navajo neurohepatopathy
  261250	16q24.3 microdeletion syndrome
  261501	Atypical Norrie disease due to Xp11.3 microdeletion
  261552	Mowat-Wilson syndrome due to a ZEB2 point mutation
  261584	Familial adenomatous polyposis due to 5q22.2 microdeletion
  261647	Okihiro syndrome due to a point mutation
  263310	Thymoma type A
  263339	Poorly differentiated thymic neuroendocrine carcinoma
  263501	COG4-CDG
  264688	Congenital chylothorax
  268145	Classic maple syrup urine disease
  268882	Arnold-Chiari malformation type I
  268940	Bilateral polymicrogyria
  269001	Isolated focal cortical dysplasia type IIa
  269197	Glioependymal/ependymal cyst
  275777	Heritable pulmonary arterial hypertension
  275944	Hemolytic disease of the newborn with Kell alloimmunization
  276198	Spinocerebellar ataxia type 36
  276399	Familial multinodular goiter
  276413	10q22.3q23.3 microdeletion syndrome
  276429	Hypnic headache
  279897	Primary oculocerebral lymphoma
  280071	ALG11-CDG
  280133	Complement component 3 deficiency
  280219	Pelizaeus-Merzbacher disease, classic form
  280224	Pelizaeus-Merzbacher disease, transitional form
  280229	Pelizaeus-Merzbacher disease in female carriers
  280315	Autoimmune pancreatitis type 2
  280640	Occipital pachygyria and polymicrogyria
  280671	Megaconial congenital muscular dystrophy
  280785	Bullous diffuse cutaneous mastocytosis
  280802	Intralobar congenital pulmonary sequestration
  280921	Idiopathic panuveitis
  281122	Self-improving collodion baby
  281201	Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
  284160	8q21.11 microdeletion syndrome
  284282	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
  284332	Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
  284426	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
  284448	CLIPPERS
  284963	Marfan syndrome type 1
  289176	Autosomal recessive hypophosphatemic rickets
  289290	Hypermethioninemia encephalopathy due to adenosine kinase deficiency
  289326	Tropical spastic paraparesis
  289666	Plasmablastic lymphoma
  289860	Infantile glycine encephalopathy
  289877	Transient hyperammonemia of the newborn
  294016	Microcephaly-capillary malformation syndrome
  295197	Synpolydactyly type 2
  295229	Congenital genu recurvatum
  300298	Severe congenital hypochromic anemia with ringed sideroblasts
  300305	11p15.4 microduplication syndrome
  300496	Multiple congenital anomalies-hypotonia-seizures syndrome type 2
  300536	DDOST-CDG
  300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
  300573	Polymicrogyria due to TUBB2B mutation
  306527	Isolated hereditary congenital facial paralysis
  306686	Delayed encephalopathy due to carbon monoxide poisoning
  308487	Generalized galactose epimerase deficiency
  309239	Tay-Sachs disease, B1 variant
  309263	Metachromatic leukodystrophy, juvenile form
  313850	Infantile cerebellar-retinal degeneration
  313884	12p12.1 microdeletion syndrome
  313906	Congenital pancreatic cyst
  313936	PENS syndrome
  314002	Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome
  314041	Marfanoid habitus-inguinal hernia-advanced bone age syndrome
  314432	Spigelian hernia-cryptorchidism syndrome
  314466	Atypical Meigs syndrome
  314585	15q overgrowth syndrome
  314718	Lethal arteriopathy syndrome due to fibulin-4 deficiency
  314811	Short stature due to GHSR deficiency
  314978	X-linked non progressive cerebellar ataxia
  319223	Argentine hemorrhagic fever
  319244	Chapare hemorrhagic fever
  319266	Omsk hemorrhagic fever
  319332	Autosomal recessive myogenic arthrogryposis multiplex congenita
  319547	Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
  319640	Retinal macular dystrophy type 2
  319671	Alazami syndrome
  320401	Autosomal recessive spastic paraplegia type 44
  324299	Multiple paragangliomas associated with polycythemia
  324364	Mixed sclerosing bone dystrophy with extra-skeletal manifestations
  324416	Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome
  324442	Autosomal recessive axonal neuropathy with neuromyotonia
  324585	Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
  324625	Chikungunya
  329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy
  329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome
  329242	Congenital chronic diarrhea with protein-losing enteropathy
  329258	Autosomal dominant Charcot-Marie-Tooth disease type 2Q
  329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
  329457	Distal arthrogryposis type 5D
  329813	Mosaic genome-wide paternal uniparental disomy
  330041	Hemoglobin M disease
  330054	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
  330061	Actinic prurigo
  331190	Immunodeficiency due to ficolin3 deficiency
  352403	Spectrin-associated autosomal recessive cerebellar ataxia
  352470	DNA2-related mitochondrial DNA deletion syndrome
  352577	Bainbridge-Ropers syndrome
  352582	Familial infantile myoclonic epilepsy
  352662	Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
  353253	Burning mouth syndrome
  353308	Pyruvate carboxylase deficiency, infantile type
  353320	Pyruvate carboxylase deficiency, benign type
  353327	Congenital myasthenic syndromes with glycosylation defect
  353344	Idiopathic macular telangiectasia type 1
  356947	3q26q27 microdeletion syndrome
  357001	19p13.13 microdeletion syndrome
  363558	New-onset refractory status epilepticus
  363705	Craniofaciofrontodigital syndrome
  363722	Alexander disease type II
  364063	Infantile epileptic-dyskinetic encephalopathy
  369852	Congenital neutropenia-myelofibrosis-nephromegaly syndrome
  369950	Intellectual disability-seizures-macrocephaly-obesity syndrome
  369955	Methylmalonic acidemia with homocystinuria, type cblJ
  369999	Diffuse palmoplantar keratoderma with painful fissures
  370046	Didymosis aplasticosebacea
  370079	Proximal 16p11.2 microduplication syndrome
  370127	Medich giant platelet syndrome
  370334	Extraskeletal Ewing sarcoma
  371007	Congenital muscular dystrophy with hyperlaxity
  371428	Multicentric osteolysis-nodulosis-arthropathy spectrum
  391311	Susceptibility to viral and mycobacterial infections due to STAT1 deficiency
  391330	X-linked osteoporosis with fractures
  391389	Familial episodic pain syndrome with predominantly upper body involvement
  391397	Hereditary sensory and autonomic neuropathy type 7
  391677	Short stature-optic atrophy-Pelger-Huët anomaly syndrome
  394529	Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
  397606	PrP systemic amyloidosis
  397755	Periodic paralysis with transient compartment-like syndrome
  397758	Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
  398053	Adenocarcinoma of the penis
  398063	Refractory celiac disease
  399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation
  401810	Autosomal recessive spastic paraplegia type 64
  401820	Autosomal recessive spastic paraplegia type 67
  401901	Huntington disease-like syndrome due to C9ORF72 expansions
  401953	Episodic ataxia with slurred speech
  401979	Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type
  402026	Acute myeloid leukemia with NPM1 somatic mutations
  404476	Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
  411634	Juvenile nephropathic cystinosis
  411777	Generalized eruptive keratoacanthoma
  411788	Familial isolated trichomegaly
  412189	Epidermolysis bullosa simplex due to exophilin 5 deficiency
  418959	Squamous cell carcinoma of the stomach
  420566	Bleeding disorder due to CalDAG-GEFI deficiency
  420611	Transient myeloproliferative syndrome
  422526	Hereditary clear cell renal cell carcinoma
  423717	Cutaneous larva migrans
  424002	Squamous cell carcinoma of the rectum
  424080	Undifferentiated carcinoma with osteoclast-like giant cells of pancreas
  424107	Congenital myopathy with myasthenic-like onset
  424970	Undifferentiated carcinoma of liver and intrahepatic biliary tract
  424996	Squamous cell carcinoma of gallbladder and extrahepatic biliary tract
  425120	STING-associated vasculopathy with onset in infancy
  435372	Anterior urethral valve
  435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
  436141	Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome
  436242	Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease
  436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
  438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
  439212	Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
  439232	AApoAIV amyloidosis
  440221	Congenital oculomotor nerve palsy
  440427	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  442582	AH amyloidosis
  443087	46,XY difference of sex development due to testicular 17,20-desmolase deficiency
  443197	X-linked erythropoietic protoporphyria
  443811	PGM3-CDG
  443950	DNAJB2-related Charcot-Marie-Tooth disease type 2
  444458	Combined oxidative phosphorylation defect type 24
  444463	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
  447753	Autosomal dominant spastic paraplegia type 9A
  447881	Idiopathic dropped head syndrome
  447964	Autosomal dominant Charcot-Marie-Tooth disease type 2V
  448270	Ectopia cordis
  454710	Anti-p200 pemphigoid
  454742	Variably protease-sensitive prionopathy
  456298	1p35.2 microdeletion syndrome
  5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
  14	Abetalipoproteinemia
  17	Fatal infantile lactic acidosis with methylmalonic aciduria
  24	Fumaric aciduria
  41	Dyschromatosis symmetrica hereditaria
  50	Aicardi syndrome
  67	Amoebiasis due to Entamoeba histolytica
  74	Angiostrongyliasis
  82	Hereditary thrombophilia due to congenital antithrombin deficiency
  101	Dentatorubral pallidoluysian atrophy
  107	BOR syndrome
  110	Bardet-Biedl syndrome
  119	Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
  125	Bloom syndrome
  127	Borjeson-Forssman-Lehmann syndrome
  133	Chronic beryllium disease
  136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
  138	CHARGE syndrome
  140	Campomelic dysplasia
  464458	Paracetamol poisoning
  464756	Familial gastric type 1 neuroendocrine tumor
  464760	Familial cavitary optic disc anomaly
  466775	Autosomal recessive Charcot-Marie-Tooth disease type 2X
  467176	Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
  468661	Autosomal recessive spastic paraplegia type 74
  468684	CCDC115-CDG
  468726	Severe primary trimethylaminuria
  476102	Hereditary pediatric Behçet-like disease
  477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome
  477781	Primary condylar hyperplasia
  477831	Kosaki overgrowth syndrome
  480476	Progressive familial intrahepatic cholestasis type 5
  480541	High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement
  480682	POGLUT1-related limb-girdle muscular dystrophy R21
  485275	Acquired schizencephaly
  488232	Split-foot malformation-mesoaxial polydactyly syndrome
  488280	14q32 duplication syndrome
  488434	Camptodactyly syndrome, Guadalajara type 3
  488647	DDX41-related hematologic malignancy predisposition syndrome
  493342	Vibratory urticaria
  494344	RERE-related neurodevelopmental syndrome
  494439	Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
  495930	Familial monosomy 7 syndrome
  496693	Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
  496751	EVEN-plus syndrome
  497906	Childhood-onset basal ganglia degeneration syndrome
  498481	LRP5-related primary osteoporosis
  499096	Isolated optic neuritis
  500062	Infantile-onset periodic fever-panniculitis-dermatosis syndrome
  500478	Squamous cell carcinoma of the oropharynx
  502318	Cochlear nerve deficiency
  502444	Alkaline ceramidase 3 deficiency
  504530	Combined immunodeficiency due to Moesin deficiency
  505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
  506112	Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas
  506334	Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
  512260	Congenital cerebellar ataxia due to RNU12 mutation
  513436	Autosomal recessive spastic paraplegia type 78
  519386	Isolated congenital entropion
  519396	Isolated microspherophakia
  521123	Radiation-induced plexopathy
  521406	Dystonia-parkinsonism-hypermanganesemia syndrome
  521432	Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome
  525738	Prepubertal anorexia nervosa
  527276	Encephalopathy due to mitochondrial and peroxisomal fission defect
  528647	Hereditary angioedema with normal C1Inh
  529808	Chronic bilirubin encephalopathy
  536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
  538866	Pustular pyoderma gangrenosum
  555407	NAD(P)HX epimerase deficiency
  556955	Pancreatic agenesis-holoprosencephaly syndrome
  563589	Seronegative autoimmune hepatitis
  563609	Isolated anencephaly
  174	Metaphyseal chondrodysplasia, Schmid type
  179	Birdshot chorioretinopathy
  191	Cockayne syndrome
  204	Sporadic Creutzfeldt-Jakob disease
  205	Crigler-Najjar syndrome
  210	Cyclosporiasis
  234	Dubin-Johnson syndrome
  236	Trisomy 9p
  237	Duplication of urethra
  243	46,XX gonadal dysgenesis
  244	Primary ciliary dyskinesia
  248	Autosomal recessive hypohidrotic ectodermal dysplasia
  258	Laminin subunit alpha 2-related congenital muscular dystrophy
  270	Oculopharyngeal muscular dystrophy
  283	Demodicidosis
  298	Mitochondrial neurogastrointestinal encephalomyopathy
  320	Apparent mineralocorticoid excess
  321	Multiple osteochondromas
  325	Congenital factor II deficiency
  346	Quinquaud folliculitis decalvans
  365	Glycogen storage disease due to acid maltase deficiency
  367	Glycogen storage disease due to glycogen branching enzyme deficiency
  369	Glycogen storage disease due to liver glycogen phosphorylase deficiency
  415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
  425	Apolipoprotein A-I deficiency
  447	Paroxysmal nocturnal hemoglobinuria
  504	Creeping myiasis
  507	Leishmaniasis
  526	Liddle syndrome
  563	Peripartum cardiomyopathy
  575	Muckle-Wells syndrome
  582	Mucopolysaccharidosis type 4
  590	Congenital myasthenic syndrome
  598	Multiminicore myopathy
  610	Bethlem myopathy
  617	Congenital primary megaureter
  637	Full NF2-related schwannomatosis
  640	Hereditary neuropathy with liability to pressure palsies
  652	Multiple endocrine neoplasia type 1
  664	Ornithine transcarbamylase deficiency
  666	Osteogenesis imperfecta
  683	Progressive supranuclear palsy
  699	Pearson syndrome
  700	Alopecia totalis
  709	Peters plus syndrome
  743	Severe hereditary thrombophilia due to congenital protein S deficiency
  744	Proteus syndrome
  750	Pseudoachondroplasia
  757	Pseudohypoaldosteronism type 2
  769	Rabson-Mendenhall syndrome
  773	Refsum disease
  566396	Chronic mast cell leukemia
  566841	Liver adenomatosis
  568065	EPHB4-related lymphatic-related hydrops fetalis
  572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
  576227	Complete atrioventricular septal defect without ventricular hypoplasia
  585867	Acute myeloid leukemia with t(9;22)(q34.1;q11.2)
  585909	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)
  585918	B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)
  585936	B-lymphoblastic leukemia/lymphoma with hyperdiploidy
  586130	Sporadic fatal insomnia
  592900	Acute disseminated encephalomyelitis without anti-MOG antibodies
  595109	Atypical Timothy syndrome
  595356	Localized dystrophic epidermolysis bullosa
  597874	MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome
  598164	FOXG1 syndrome due to intragenic alteration
  599501	Acquired factor X deficiency
  599507	Acquired factor XI deficiency
  600194	Factor V Atlanta bleeding disorder
  601008	Non-syndromic anorectal malformation with anal stenosis
  601018	Non-syndromic anorectal malformation with rectal atresia
  615964	Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate
  617304	Amniotic fluid embolism
  619367	SAMD9L-associated autoinflammatory syndrome
  620102	Non-syndromic unicoronal craniosynostosis
  620368	EGF-related primary hypomagnesemia with intellectual disability
  624244	Postinfectious cerebellitis
  631076	Autosomal recessive spastic paraplegia type 83
  634475	Mosaic NF2-related schwannomatosis
  641361	Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome
  641496	Childhood-onset schizophrenia
  642976	Perrault syndrome type 2
  645343	Non-saccular limited dorsal myeloschisis
  645359	Intramedullary non-dysraphic spinal cord lipoma
  645398	Myeloschisis
  646113	Intermediate collagen VI-related muscular dystrophy
  647667	Mandibuloacral dysplasia associated to MTX2
  781	Q fever
  792	X-linked retinoschisis
  794	Saethre-Chotzen syndrome
  829	Adult-onset Still disease
  839	Congenital nephrotic syndrome, Finnish type
  852	X-linked thrombocytopenia with normal platelets
  860	Congenitally uncorrected transposition of the great arteries
  861	Treacher-Collins syndrome
  871	Familial progressive cardiac conduction defect
  883	Extragonadal teratoma
  916	Aase-Smith syndrome
  927	Hyperammonemia due to N-acetylglutamate synthase deficiency
  941	D-glyceric aciduria
  970	Hereditary sensory and autonomic neuropathy type 2
  1001	2q37 microdeletion syndrome
  1028	Amelo-onycho-hypohidrotic syndrome
  1035	Beta-mercaptolactate cysteine disulfiduria
  1041	Hydrops fetalis
  1046	Lethal hemolytic anemia-genital anomalies syndrome
  1078	Thumb stiffness-brachydactyly-intellectual disability syndrome
  1094	Anonychia-microcephaly syndrome
  1113	Aphalangy-syndactyly-microcephaly syndrome
  1114	Aplasia cutis congenita
  1123	Caudal appendage-deafness syndrome
  1126	Aprosencephaly cerebellar dysgenesis
  1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
  1168	Ataxia-oculomotor apraxia type 1
  1175	X-linked progressive cerebellar ataxia
  1187	Lethal ataxia with deafness and optic atrophy
  1190	Atelosteogenesis type I
  1203	Duodenal atresia
  1228	Banki syndrome
  1246	Brachydactyly-nystagmus-cerebellar ataxia syndrome
  1247	Schistosomiasis
  1303	Bronchiolitis obliterans with obstructive pulmonary disease
  1309	Medullary sponge kidney
  1313	Infantile choroidocerebral calcification syndrome
  1319	Camptobrachydactyly
  1338	Heart defect-tongue hamartoma-polysyndactyly syndrome
  1406	Charlie M syndrome
  1423	Lethal recessive chondrodysplasia
  1441	Ring chromosome 17 syndrome
  1446	Ring chromosome 22 syndrome
  1448	Ring chromosome 6 syndrome
  1457	Aorta coarctation
  1464	Univentricular heart
  1473	Uveal coloboma-cleft lip and palate-intellectual disability
  1488	Cooper-Jabs syndrome
  1495	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
  1507	Autosomal recessive Robinow syndrome
  1532	Gómez-López-Hernández syndrome
  1545	Crisponi syndrome
  1548	Cryptorchidism-arachnodactyly-intellectual disability syndrome
  1571	Knobloch syndrome
  1596	Distal deletion 15q
  1597	Distal deletion 17q
  1646	Partial chromosome Y deletion
  1675	Dihydropyrimidine dehydrogenase deficiency
  1699	Trisomy 12p
  1724	Mosaic trisomy 20
  1727	22q11.2 duplication syndrome
  1802	Ghosal hematodiaphyseal dysplasia
  1808	Hidrotic ectodermal dysplasia, Christianson-Fourie type
  1871	Progressive cone dystrophy
  1883	Ectodermal dysplasia-sensorineural deafness syndrome
  1908	Aminopterin/methotrexate embryofetopathy
  1911	Cocaine embryofetopathy
  1920	Toluene embryopathy
  1935	Early myoclonic encephalopathy
  1945	Rolandic epilepsy
  1979	Lipodystrophy due to peptidic growth factors deficiency
  1993	Pai syndrome
  2010	Cleft palate-stapes fixation-oligodontia syndrome
  2045	FLOTCH syndrome
  2047	Flynn-Aird syndrome
  2052	Fraser syndrome
  2064	Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
  2078	Geroderma osteodysplastica
  2097	Grant syndrome
  2145	Craniosynostosis, Herrmann-Opitz type
  2165	Holoprosencephaly-caudal dysgenesis syndrome
  2167	Holzgreve syndrome
  2176	Infantile systemic hyalinosis
  2184	Hydrocephaly-low insertion umbilicus syndrome
  2186	Hydrocephalus-blue sclerae-nephropathy syndrome
  2222	Hypertrichosis lanuginosa congenita
  2249	Ulna hypoplasia-intellectual disability syndrome
  2253	Foveal hypoplasia-presenile cataract syndrome
  2289	Neuronal intranuclear inclusion disease
  2297	Insulin-resistance syndrome type A
  2305	Isotretinoin syndrome
  2322	Kabuki syndrome
  2407	Laryngo-onycho-cutaneous syndrome
  2412	Dislocation of the hip-dysmorphism syndrome
  2420	Primary pulmonary lymphoma
  2457	Mandibuloacral dysplasia
  2471	McDonough syndrome
  2477	Megalencephaly
  2478	Megalencephalic leukoencephalopathy with subcortical cysts
  2481	Neurocutaneous melanocytosis
  2496	Mesomelia-synostoses syndrome
  2504	Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
  2505	Multiple benign circumferential skin creases on limbs
  2519	Microcephaly-seizures-intellectual disability-heart disease syndrome
  2533	Microcephaly-deafness-intellectual disability syndrome
  2565	Mononen-Karnes-Senac syndrome
  2584	Classic mycosis fungoides
  2593	Tubular aggregate myopathy
  2634	Mesomelic dwarfism, Reinhardt-Pfeiffer type
  2635	Metatropic dysplasia
  2686	Cyclic neutropenia
  2707	Oculocerebrofacial syndrome, Kaufman type
  2720	Oculocerebral hypopigmentation syndrome, Preus type
  2733	Omodysplasia
  2744	Horizontal gaze palsy with progressive scoliosis
  2753	Orofaciodigital syndrome type 4
  2756	Orofaciodigital syndrome type 10
  2768	Blount disease
  2772	Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
  2783	Autosomal dominant osteopetrosis type 1
  2790	Endosteal hyperostosis, Worth type
  2791	Otodental syndrome
  2796	Pachydermoperiostosis
  2867	Short stature, Brussels type
  2875	Phakomatosis pigmentovascularis
  2878	Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome
  2896	Pitt-Hopkins syndrome
  2924	Isolated polycystic liver disease
  2947	Triphalangeal thumbs-brachyectrodactyly syndrome
  2966	Properdin deficiency
  2972	Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome
  2975	46,XX difference of sex development-skeletal anomalies syndrome
  2985	Pseudoprogeria syndrome
  3019	Ramon syndrome
  3026	Radial ray hypoplasia-choanal atresia syndrome
  3097	Meacham syndrome
  3110	Rombo syndrome
  3129	Sarcosinemia
  3143	Autoimmune polyendocrinopathy type 2
  3168	Sillence syndrome
  3173	Infantile spasms-broad thumbs syndrome
  3176	Spina bifida-hypospadias syndrome
  3184	Steatocystoma multiplex-natal teeth syndrome
  3200	Arthrogryposis-ectodermal dysplasia syndrome
  3201	Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome
  3207	White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
  3210	Summitt syndrome
  3235	Progressive deafness with stapes fixation
  3238	Cardiospondylocarpofacial syndrome
  3239	Deafness-vitiligo-achalasia syndrome
  3318	Essential thrombocythemia
  3338	Toriello-Carey syndrome
  3342	Arterial tortuosity syndrome
  3369	Trigonocephaly-short stature-developmental delay syndrome
  3400	Aorto-ventricular tunnel
  3433	Microcephaly-brachydactyly-kyphoscoliosis syndrome
  3463	Wolfram syndrome
  3469	XK aprosencephaly syndrome
  26791	Multiple acyl-CoA dehydrogenase deficiency
  29207	Reactive arthritis
  30924	Primary hypomagnesemia with secondary hypocalcemia
  31043	Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
  31205	Rat-bite fever
  31837	Pulmonary venoocclusive disease
  33110	Autosomal agammaglobulinemia
  33402	Pediatric hepatocellular carcinoma
  33408	Bullous lichen planus
  33543	Kleine-Levin syndrome
  34217	Naxos disease
  35122	Congenital sucrase-isomaltase deficiency
  35686	Serpiginous choroiditis
  35687	Erdheim-Chester disease
  36235	Staphylococcal scarlet fever
  36913	Autoimmune hypoparathyroidism
  37559	Acquired kinky hair syndrome
  42642	PFAPA syndrome
  45452	Idiopathic neonatal atrial flutter
  46487	Epidermolysis bullosa acquisita
  48162	Lewis-Sumner syndrome
  48818	Aceruloplasminemia
  50810	Microlissencephaly-micromelia syndrome
  52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
  52417	MALT lymphoma
  53689	Congenital chloride diarrhea
  53690	Congenital lactase deficiency
  53715	Familial tumoral calcinosis
  55881	Adamantinoma
  57777	Cirrhotic cardiomyopathy
  57782	Mazabraud syndrome
  60026	Pulmonary nodular lymphoid hyperplasia
  60030	Loeys-Dietz syndrome
  60041	Congenital heart block
  63259	Iniencephaly
  63260	Craniorachischisis
  64545	Benign idiopathic neonatal seizures
  64694	Trench fever
  64739	Ovarian hyperstimulation syndrome
  64745	Pruritic urticarial papules and plaques of pregnancy
  64755	Becker nevus syndrome
  65282	Carvajal syndrome
  66637	Diaphanospondylodysostosis
  66662	Extracutaneous mastocytoma
  69061	Idiopathic steroid-sensitive nephrotic syndrome
  69083	Ectodermal dysplasia with natal teeth, Turnpenny type
  69088	Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
  69723	Tyrosinemia type 3
  70476	Vernal keratoconjunctivitis
  70567	Cholangiocarcinoma
  70573	Small cell lung cancer
  70590	Infantile apnea
  70593	Immunodeficiency due to selective anti-polysaccharide antibody deficiency
  71289	Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
  71493	Familial thrombocytosis
  75389	Brain malformation-congenital heart disease-postaxial polydactyly syndrome
  75567	Primary progressive freezing gait
  77259	Gaucher disease type 1
  77261	Gaucher disease type 3
  77296	Morgagni-Stewart-Morel syndrome
  77299	Microphthalmia-brain atrophy syndrome
  79087	Acquired partial lipodystrophy
  79106	Eiken syndrome
  79138	Bickerstaff brainstem encephalitis
  79151	Acrokeratosis verruciformis of Hopf
  79239	Classic galactosemia
  79254	Classic phenylketonuria
  79272	Sanfilippo syndrome type D
  79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-
  79322	DPM1-CDG
  79324	ALG12-CDG
  79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
  79478	Griscelli syndrome type 3
  79481	Pemphigus foliaceus
  79506	Cholesterol-ester transfer protein deficiency
  79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
  83316	Pseudotyphus of California
  83619	Macrostomia-preauricular tags-external ophthalmoplegia syndrome
  83639	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
  85112	Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
  85163	Hypomyelination-congenital cataract syndrome
  85165	Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
  85188	Metaphyseal dysplasia, Braun-Tinschert type
  85192	Calvarial doughnut lesions-bone fragility syndrome
  85194	Spondylo-ocular syndrome
  85197	Genochondromatosis type 1
  85282	MEHMO syndrome
  85292	X-linked spinocerebellar ataxia type 4
  85319	X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome
  85320	X-linked intellectual disability-macrocephaly-macroorchidism syndrome
  85327	X-linked intellectual disability-acromegaly-hyperactivity syndrome
  85329	X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome
  85332	X-linked intellectual disability-retinitis pigmentosa syndrome
  85335	Fried syndrome
  85438	Enthesitis-related juvenile idiopathic arthritis
  85450	Hereditary amyloidosis with primary renal involvement
  86813	Helicoid peripapillary chorioretinal degeneration
  86834	Juvenile myelomonocytic leukemia
  86841	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
  86849	Acute basophilic leukemia
  86852	B-cell prolymphocytic leukemia
  86870	Blastic plasmacytoid dendritic cell neoplasm
  86908	Idiopathic hemiconvulsion-hemiplegia syndrome
  86920	Dermatopathia pigmentosa reticularis
  88618	S-adenosylhomocysteine hydrolase deficiency
  88628	Posterior column ataxia-retinitis pigmentosa syndrome
  88630	Terminal osseous dysplasia-pigmentary defects syndrome
  88643	Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome
  88950	UMOD-related autosomal dominant tubulointerstitial kidney disease
  89843	Dystrophic epidermolysis bullosa pruriginosa
  89938	Bartter syndrome type 4
  90026	Primary erythromelalgia
  90035	Paroxysmal cold hemoglobinuria
  90036	Mixed-type autoimmune hemolytic anemia
  90038	Shiga toxin-associated hemolytic uremic syndrome
  90041	Gaisböck syndrome
  90119	Hereditary motor and sensory neuropathy with acrodystrophy
  90157	Drug-induced localized lipodystrophy
  90282	Hypertrophic or verrucous lupus erythematosus
  90285	Lupus erythematosus panniculitis
  90307	Parkes Weber syndrome
  90647	Jervell and Lange-Nielsen syndrome
  90674	Isolated thyroid-stimulating hormone deficiency
  91136	Acquired monoclonal Ig light chain-associated Fanconi syndrome
  91140	Unspecified juvenile idiopathic arthritis
  93108	Renal dysplasia
  93114	Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
  93259	Pfeiffer syndrome type 2
  93260	Pfeiffer syndrome type 3
  93268	Short rib-polydactyly syndrome, Beemer-Langer type
  93269	Short rib-polydactyly syndrome, Majewski type
  93274	Thanatophoric dysplasia type 2
  93284	Spondyloepiphyseal dysplasia tarda
  93304	Autosomal dominant brachyolmia
  93325	Autosomal dominant Kenny-Caffey syndrome
  93329	Autosomal recessive omodysplasia
  93372	Familial hypocalciuric hypercalcemia type 1
  93388	Brachydactyly type A1
  93409	Brachydactyly-syndactyly, Zhao type
  93476	Hurler-Scheie syndrome
  93598	Primary hyperoxaluria type 1
  93608	Autosomal dominant distal renal tubular acidosis
  93622	Dent disease type 1
  93623	Dent disease type 2
  93672	Juvenile dermatomyositis
  93924	Lobar holoprosencephaly
  93938	Laryngotracheoesophageal cleft type 1
  93953	Familial thyroglossal duct cyst
  94059	Uremic pruritus
  94083	Partington syndrome
  94091	Mills syndrome
  94147	Spinocerebellar ataxia type 7
  95461	Straddling or overriding tricuspid valve
  95465	Cleft mitral valve
  95619	Post-traumatic pituitary deficiency
  95700	Familial adrenal hypoplasia with absent pituitary luteinizing hormone
  95717	Idiopathic congenital hypothyroidism
  96076	Beckwith-Wiedemann syndrome due to 11p15 microduplication
  96100	Distal duplication 8q
  96150	Distal deletion 14q
  96160	Non-distal deletion 12q
  96168	Monosomy 13q34
  96263	48,XXXY syndrome
  96265	Leydig cell hypoplasia due to complete LH resistance
  97244	Rigid spine syndrome
  97287	Bronchial neuroendocrine tumor
  97297	Bohring-Opitz syndrome
  97345	ABri amyloidosis
  97361	Renal hypoplasia, unilateral
  97560	Primary membranous glomerulonephritis
  98606	Syndromic orbital border hypoplasia
  98766	Spinocerebellar ataxia type 5
  98784	Autosomal dominant nocturnal frontal lobe epilepsy
  98793	Prader-Willi syndrome due to paternal 15q11q13 deletion
  98798	Isochromosomy Yq
  98808	Autosomal dominant dopa-responsive dystonia
  98825	Unclassified myelodysplastic/myeloproliferative disease
  98831	Acute myeloid leukemia with 11q23 abnormalities
  98841	Anaplastic large cell lymphoma
  98868	Southeast Asian ovalocytosis
  98872	Primary acquired pure red cell aplasia
  98880	Familial afibrinogenemia
  98897	Oculopharyngodistal myopathy
  98902	Amish nemaline myopathy
  98907	Neutral lipid storage disease with ichthyosis
  98922	Blake pouch cyst
  98942	Coloboma of choroid and retina
  98945	Coloboma of macula
  98964	Lattice corneal dystrophy type I
  98972	Central cloudy dystrophy of François
  98974	Fuchs endothelial corneal dystrophy
  98976	Congenital glaucoma
  98980	Cogan-Reese syndrome
  98994	Total early-onset cataract
  99001	Butterfly-shaped pigment dystrophy
  99003	Multifocal pattern dystrophy simulating fundus flavimaculatus
  99042	Congenitally uncorrected transposition of the great arteries with coarctation
  99045	Double outlet right ventricle with subpulmonary ventricular septal defect
  99064	Straddling and/or overriding mitral valve
  99068	Complete atrioventricular septal defect-tetralogy of Fallot
  99081	Right aortic arch
  99099	Cor triatriatum sinister
  99102	Ectasia of the left atrial appendage
  99121	Azygos continuation of the inferior vena cava
  99125	Congenital total pulmonary venous return anomaly
  99130	Congenital partial agenesis of pericardium
  99139	Unstable hemoglobin disease
  99324	Paternal uniparental disomy of chromosome 13
  99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
  99672	Fried's tooth and nail syndrome
  99710	Punctate acrokeratoderma freckle-like pigmentation
  99749	Kostmann syndrome
  99796	Subcortical band heterotopia
  99810	Familial porencephaly
  99819	Familial gestational hyperthyroidism
  99880	Hyperparathyroidism-jaw tumor syndrome
  99907	House allergic alveolitis
  99914	Gynandroblastoma
  99920	Acute graft versus host disease
  99921	Chronic graft versus host disease
  99926	Gestational choriocarcinoma
  99971	Well-differentiated liposarcoma
  100008	ACys amyloidosis
  100019	Refractory anemia with excess blasts type 1
  100021	Primary plasmacytoma of the bone
  100022	Extramedullary soft tissue plasmacytoma
  100070	Progressive non-fluent aphasia
  100974	FRAXF syndrome
  100988	Autosomal dominant spastic paraplegia type 6
  100996	Autosomal recessive spastic paraplegia type 15
  101007	Autosomal recessive spastic paraplegia type 27
  101030	Subependymal nodular heterotopia
  101070	Bilateral frontoparietal polymicrogyria
  101078	X-linked Charcot-Marie-Tooth disease type 4
  101081	Charcot-Marie-Tooth disease type 1A
  101090	Hyper-IgM syndrome type 3
  101096	Aregenerative anemia
  101104	Marin-Amat syndrome
  103910	Congenital enterocyte heparan sulfate deficiency
  104078	Unclassified intestinal pseudoobstruction
  137888	Auriculocondylar syndrome
  139414	Congenital panfollicular nevus
  139436	Multicentric reticulohistiocytosis
  139515	Charcot-Marie-Tooth disease type 4J
  139564	Hereditary sensory and autonomic neuropathy type 1B
  139573	Hereditary sensory and autonomic neuropathy with deafness and global delay
  140922	Titin-related limb-girdle muscular dystrophy R10
  140966	Palmoplantar keratoderma, Nagashima type
  141037	Fourth branchial cleft anomaly
  141115	Nasal ganglioglioma
  141194	Cerebrofacial arteriovenous metameric syndrome type 1
  155878	Submucosal cleft palate
  156731	Dyssegmental dysplasia, Rolland-Desbuquois type
  157713	Congenital or early infantile CACH syndrome
  157716	Late infantile CACH syndrome
  158019	Indeterminate cell histiocytosis
  158029	Sea-blue histiocytosis
  163634	Maffucci syndrome
  163649	Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome
  163662	Spondyloepiphyseal dysplasia, Reardon type
  163696	Action myoclonus-renal failure syndrome
  163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
  164726	Acute myeloid leukemia and myelodysplastic syndromes related to radiation
  164736	Familial advanced sleep-phase syndrome
  166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly
  166024	Multiple epiphyseal dysplasia, Al-Gazali type
  166038	Metaphyseal chondrodysplasia, Kaitila type
  166063	Pontocerebellar hypoplasia type 4
  166084	Von Willebrand disease type 2A
  166100	Autosomal dominant otospondylomegaepiphyseal dysplasia
  166108	Intellectual disability, Birk-Barel type
  166277	Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia
  166291	Dirofilariasis
  168782	Childhood disintegrative disorder
  169095	Severe combined immunodeficiency due to FOXN1 deficiency
  169139	Transient hypogammaglobulinemia of infancy
  169467	Recurrent Neisseria infections due to factor D deficiency
  171436	Typical nemaline myopathy
  171445	Muscle filaminopathy
  171612	Autosomal dominant spastic paraplegia type 37
  171695	Parkinsonian-pyramidal syndrome
  171706	Short stature-delayed bone age due to thyroid hormone metabolism deficiency
  171829	6q16 microdeletion syndrome
  171851	MEDNIK syndrome
  171881	Cap myopathy
  171889	Myopathy with hexagonally cross-linked tubular arrays
  178506	Brain calcification, Rajab type
  178512	Folliculotropic mycosis fungoides
  178517	Localized pagetoid reticulosis
  179494	Obesity due to leptin receptor gene deficiency
  180114	Unicervical bicornuate uterus
  180126	Complete septate uterus
  180139	Uterine hypoplasia
  180145	Uterine cervical aplasia and agenesis
  180229	Polyembryoma
  180261	Phyllodes tumor of the breast
  199244	Nelson syndrome
  199247	Corticosteroid-binding globulin deficiency
  199279	Familial angiolipomatosis
  199285	Hereditary hypercarotenemia and vitamin A deficiency
  199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy
  199642	Isolated congenital microcephaly
  206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
  206549	Anoctamin-5-related limb-girdle muscular dystrophy R12
  208441	Bilateral parasagittal parieto-occipital polymicrogyria
  209370	Severe neonatal-onset encephalopathy with microcephaly
  209951	Autosomal spastic paraplegia type 18
  210272	Mal de débarquement
  213512	Malignant mixed Müllerian tumor of the ovary
  213531	Metaplastic carcinoma of the breast
  213600	Adenosarcoma of the corpus uteri
  213772	Adenocarcinoma of the cervix uteri
  216718	Isolated congenitally uncorrected transposition of the great arteries
  217055	Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
  217080	Pulmonary fungal infections in patients deemed at risk
  217340	17q21.31 microduplication syndrome
  217377	Microduplication Xp11.22p11.23 syndrome
  220402	Limited cutaneous systemic sclerosis
  220460	Attenuated familial adenomatous polyposis
  221061	Familial cerebral cavernous malformation
  221074	Marchiafava-Bignami disease
  227535	Hereditary breast cancer
  228012	Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome
  228174	Autosomal dominant Charcot-Marie-Tooth disease type 2N
  228240	Elastoderma
  228349	CLN2 disease
  228354	CLN8 disease
  228379	Virus-associated trichodysplasia spinulosa
  231120	Beckwith-Wiedemann syndrome due to CDKN1C mutation
  231127	Beckwith-Wiedemann syndrome due to 11p15 microdeletion
  231140	Silver-Russell syndrome due to an imprinting defect of 11p15
  231169	Usher syndrome type 1
  231450	Acute pure sensory neuropathy
  231625	Adrenocortical carcinoma with pure aldosterone hypersecretion
  238305	Infundibulo-neurohypophysitis
  238557	Chuvash erythrocytosis
  238606	Primary orthostatic tremor
  238637	Megacystis-megaureter syndrome
  244305	Dominant hypophosphatemia with nephrolithiasis or osteoporosis
  247522	Primary ciliary dyskinesia-retinitis pigmentosa syndrome
  247709	Multiple endocrine neoplasia type 2B
  248111	Juvenile Huntington disease
  251004	Paternal uniparental disomy of chromosome 1
  251046	6p22 microdeletion syndrome
  251076	8p23.1 duplication syndrome
  251274	Familial hyperaldosteronism type III
  251279	Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome
  251307	Idiopathic recurrent pericarditis
  251375	Sickle cell-hemoglobin E disease syndrome
  251515	Distal arthrogryposis type 10
  251612	Pilocytic astrocytoma
  251883	Medulloepithelioma of the central nervous system
  251946	Dysembryoplastic neuroepithelial tumor
  251957	Anaplastic ganglioglioma
  252054	Hemangioblastoma
  254902	Renal tubulopathy-encephalopathy-liver failure syndrome
  261190	15q14 microdeletion syndrome
  261222	Distal 16p11.2 microdeletion syndrome
  261236	16p13.11 microdeletion syndrome
  261304	Paternal 20q13.2q13.3 microdeletion syndrome
  261344	Trisomy 1q
  261652	Kleefstra syndrome due to a point mutation
  263335	Moderately-differentiated thymic neuroendocrine carcinoma
  263347	MRCS syndrome
  263352	Postcardiotomy right ventricular failure
  263410	Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
  263425	Nevus of Ota
  263435	Congenital smooth muscle hamartoma
  264450	Trisomy 8p
  268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
  268810	Isolated posterior meningocele
  268823	Occipital encephalocele
  268868	Isolated amyelia
  269505	Congenital communicating hydrocephalus
  275517	Autoimmune lymphoproliferative syndrome with recurrent viral infections
  275864	Behavioral variant of frontotemporal dementia
  276432	Ogden syndrome
  276556	Hyperinsulinism due to UCP2 deficiency
  276621	Sporadic pheochromocytoma/secreting paraganglioma
  279943	Hereditary neutrophilia
  279947	Postorgasmic illness syndrome
  280062	Calciphylaxis
  280065	Calciphylaxis cutis
  280142	Severe combined immunodeficiency due to LCK deficiency
  280270	Pelizaeus-Merzbacher-like disease
  280293	Pelizaeus-Merzbacher-like disease due to AIMP1 mutation
  281090	Syndromic recessive X-linked ichthyosis
  281139	Annular epidermolytic ichthyosis
  282166	Inherited Creutzfeldt-Jakob disease
  284414	Glycerol kinase deficiency, adult form
  289157	Hypocalcemic vitamin D-dependent rickets
  289390	Primary Sjögren syndrome
  289522	Microtriplication 11q24.1
  289553	Dysmorphism-conductive hearing loss-heart defect syndrome
  289601	Hereditary arterial and articular multiple calcification syndrome
  289682	Lymphoepithelial-like carcinoma
  289685	Myopericytoma
  293967	Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
  293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome
  294979	Congenital absence of both forearm and hand
  295012	Syndactyly type 6
  295030	True congenital shoulder dislocation
  295049	Upper limb hypertrophy
  295193	Zygodactyly type 4
  295201	Congenital vertical talus, unilateral
  295213	Humero-ulnar synostosis, unilateral
  300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
  300333	Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome
  300493	Sagliker syndrome
  300512	Onychomatricoma
  300530	Pseudohypoaldosteronism type 2E
  300869	Splenic diffuse red pulp small B-cell lymphoma
  306617	X-linked complicated spastic paraplegia type 1
  306658	Familial normophosphatemic tumoral calcinosis
  306731	Sydenham chorea
  308400	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
  308552	Glycogen storage disease due to acid maltase deficiency, infantile onset
  309015	Familial lipoprotein lipase deficiency
  309162	Sandhoff disease, juvenile form
  309169	Sandhoff disease, adult form
  309185	Tay-Sachs disease, B variant, juvenile form
  309256	Metachromatic leukodystrophy, late infantile form
  309334	Salla disease
  313781	20p13 microdeletion syndrome
  314419	Ameloblastoma
  314555	Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome
  314572	Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome
  314629	CLN11 disease
  314679	Cerebrofacioarticular syndrome
  314802	Short stature due to partial GHR deficiency
  317425	Severe combined immunodeficiency due to DNA-PKcs deficiency
  319182	Wiedemann-Steiner syndrome
  319239	Brazilian hemorrhagic fever
  319319	Renal medullary carcinoma
  319340	Carney complex-trismus-pseudocamptodactyly syndrome
  319462	Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
  319524	Combined oxidative phosphorylation defect type 15
  319558	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
  319605	X-linked mendelian susceptibility to mycobacterial diseases
  319667	Primary lymphoma of the conjunctiva
  320380	Autosomal recessive spastic paraplegia type 54
  324290	Early-onset Lafora body disease
  324353	Congenital achiasma
  324588	Familial dyskinesia and facial myokymia
  324648	Invasive non-typhoidal salmonellosis
  324977	Proteasome-associated autoinflammatory syndrome
  325124	Testicular agenesis
  329173	Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
  329235	X-linked central congenital hypothyroidism with late-onset testicular enlargement
  329308	Fatty acid hydroxylase-associated neurodegeneration
  329332	Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
  329469	Acute megakaryoblastic leukemia without Down syndrome
  329874	Idiopathic giant cell myocarditis
  329883	Non-hypoproteinemic hypertrophic gastropathy
  329903	Immunoglobulin-mediated membranoproliferative glomerulonephritis
  330015	Lead poisoning
  330032	Hemoglobin Lepore-beta-thalassemia syndrome
  331187	Immunodeficiency due to MASP-2 deficiency
  352328	MEGDEL syndrome
  352540	Oncogenic osteomalacia
  352641	Autosomal recessive cerebellar ataxia with late-onset spasticity
  352657	Hereditary benign intraepithelial dyskeratosis
  352670	Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
  352718	Progressive retinal dystrophy due to retinol transport defect
  352745	Oculocutaneous albinism type 7
  353356	Vasoproliferative tumor of the retina
  357064	Autosomal recessive cutis laxa type 2B
  363396	High myopia-sensorineural deafness syndrome
  363478	Paratesticular adenocarcinoma
  363483	Testicular teratoma
  363540	Leukoencephalopathy with mild cerebellar ataxia and white matter edema
  363549	Acute encephalopathy with biphasic seizures and late reduced diffusion
  363649	Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome
  363680	2p13.2 microdeletion syndrome
  363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
  363727	X-linked dyserythropoietic anemia with abnormal platelets and neutropenia
  363972	Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
  364028	X-linked intellectual disability due to GRIA3 mutations
  364039	Hydroa vacciniforme-like lymphoma
  369942	CADDS
  370015	Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
  370091	Oculocutaneous albinism type 5
  370097	Oculocutaneous albinism type 6
  370396	Small cell carcinoma of the ovary
  370924	STT3B-CDG
  391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
  391428	HSD10 disease, infantile type
  397590	Silver-Russell syndrome due to a point mutation
  397596	Activated PI3K-delta syndrome
  397612	Macrocephaly-developmental delay syndrome
  397750	Periodic paralysis with later-onset distal motor neuropathy
  398961	Mucinous adenocarcinoma of ovary
  399058	Alpha-B crystallin-related late-onset myopathy
  401777	Optic atrophy-intellectual disability syndrome
  401795	Autosomal recessive spastic paraplegia type 59
  401935	14q24.1q24.3 microdeletion syndrome
  401959	Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
  402041	Autosomal recessive distal renal tubular acidosis
  404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
  404499	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency
  411493	Pontocerebellar hypoplasia type 10
  412035	13q12.3 microdeletion syndrome
  412066	PRKAR1B-related neurodegenerative dementia with intermediate filaments
  420699	Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
  424016	Adenocarcinoma of the anal canal
  424039	Squamous cell carcinoma of pancreas
  424975	Squamous cell carcinoma of liver and intrahepatic biliary tract
  424982	Biliary cystadenocarcinoma
  431140	X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
  431272	X-linked scapuloperoneal muscular dystrophy
  431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency
  435953	Progeroid features-hepatocellular carcinoma predisposition syndrome
  435988	Chronic atrial and intestinal dysrhythmia syndrome
  436182	Microcephalic primordial dwarfism-insulin resistance syndrome
  436252	Combined immunodeficiency-enteropathy spectrum
  438114	RARS-related autosomal recessive hypomyelinating leukodystrophy
  438178	Fatty acyl-CoA reductase 1 deficiency
  439737	Primary polyarteritis nodosa
  439746	Secondary polyarteritis nodosa
  439854	Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease
  440368	Necrotizing soft tissue infection
  440402	Interstitial lung disease due to ABCA3 deficiency
  440706	Ribose-5-P isomerase deficiency
  443167	NUT midline carcinoma
  443173	Postpartum psychosis
  443180	Spontaneous intracranial hypotension
  443988	Ventriculomegaly-cystic kidney disease
  447764	IgG4-related sclerosing cholangitis
  447777	Keratocystic odontogenic tumor
  447795	Lipoyl transferase 2 deficiency
  447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
  448237	Zika virus disease
  449395	IgG4-related kidney disease
  449563	IgG4-related ophthalmic disease
  451602	Primary cutaneous plasmacytosis
  453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
  15	Achondroplasia
  16	Blue cone monochromatism
  23	Argininosuccinic aciduria
  27	Vitamin B12-unresponsive methylmalonic acidemia
  33	Isovaleric acidemia
  48	Congenital bilateral absence of vas deferens
  58	Alexander disease
  65	Leber congenital amaurosis
  73	Gorham-Stout disease
  78	Ankylostomiasis
  97	Familial paroxysmal ataxia
  102	Multiple system atrophy
  112	Bartter syndrome
  118	Beta-mannosidosis
  129	Pseudopelade of Brocq
  131	Budd-Chiari syndrome
  132	Butyrylcholinesterase deficiency
  141	Canavan disease
  457205	Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
  457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
  464311	Intellectual disability syndrome due to a DYRK1A point mutation
  464343	Catastrophic antiphospholipid syndrome
  465508	Symptomatic form of HFE-related hemochromatosis
  466703	TMEM199-CDG
  466718	Martinique crinkled retinal pigment epitheliopathy
  466722	Autosomal recessive spastic paraplegia type 77
  466729	Familial patent arterial duct
  466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z
  466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
  466921	Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome
  466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
  467166	Tubulinopathy-associated dysgyria
  468620	Intellectual disability-epilepsy-extrapyramidal syndrome
  468672	Colobomatous macrophthalmia-microcornea syndrome
  477814	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  477817	PMP22-RAI1 contiguous gene duplication syndrome
  480506	Primary intrahepatic lithiasis
  480520	Caroli syndrome
  482606	X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome
  485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect
  488191	Female infertility due to oocyte meiotic arrest
  488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W
  494424	Extracranial carotid artery aneurysm
  494428	Idiopathic pleuroparenchymal fibroelastosis
  494433	MIRAGE syndrome
  494547	Squamous cell carcinoma of the hypopharynx
  498494	Mirror-image polydactyly
  498693	MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
  499182	Pilomatrix carcinoma
  500055	Hao-Fountain syndrome due to 16p13.2 microdeletion
  500180	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
  502363	Squamous cell carcinoma of the oral cavity
  502499	Erythema multiforme major
  504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
  508512	Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome
  521414	Autosomal dominant Charcot-Marie-Tooth disease type 2DD
  521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
  529852	Combined hepatocellular carcinoma and cholangiocarcinoma
  529864	Secondary erythromelalgia
  535458	Familial GPIHBP1 deficiency
  538101	Congenital axonal neuropathy with encephalopathy
  538958	Combined immunodeficiency due to CD70 deficiency
  542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome
  542568	Quadricuspid aortic valve
  555434	Fibrohistiocytic inflammatory pseudotumor of the liver
  556985	Early-onset calcifying leukoencephalopathy-skeletal dysplasia
  563576	Autoimmune hepatitis type 1
  563581	Autoimmune hepatitis type 2
  563951	Isolated congenital aglossia
  563954	Isolated congenital hypoglossia
  147	Carbamoyl-phosphate synthetase 1 deficiency
  184	Cherubism
  190	Coats disease
  200	Isolated corpus callosum agenesis
  213	Cystinosis
  268	Dysferlin-related limb-girdle muscular dystrophy R2
  273	Steinert myotonic dystrophy
  275	Severe combined immunodeficiency due to DCLRE1C deficiency
  281	Monosomy 5p
  285	Hypermobile Ehlers-Danlos syndrome
  289	Ellis Van Creveld syndrome
  290	Congenital rubella syndrome
  294	Fetal cytomegalovirus syndrome
  300	Bifunctional enzyme deficiency
  307	Juvenile myoclonic epilepsy
  315	Erythrokeratoderma ''en cocardes''
  326	Congenital factor V deficiency
  327	Congenital factor VII deficiency
  328	Congenital factor X deficiency
  353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5
  384	Huriez syndrome
  389	Langerhans cell histiocytosis
  394	Classic homocystinuria
  399	Huntington disease
  412	Dysbetalipoproteinemia
  419	Hyperprolinemia type 1
  455	Superficial epidermolytic ichthyosis
  482	Kimura disease
  487	Krabbe disease
  492	Proliferating trichilemmal cyst
  500	Noonan syndrome with multiple lentigines
  505	Graham Little-Piccardi-Lassueur syndrome
  511	Maple syrup urine disease
  517	Acute myelomonocytic leukemia
  533	Listeriosis
  550	MELAS
  559	Marinesco-Sjögren syndrome
  570	Moebius syndrome
  574	21q deletion syndrome
  584	Mucopolysaccharidosis type 7
  606	Proximal myotonic myopathy
  614	Thomsen and Becker disease
  615	Familial atrial myxoma
  624	Familial multiple nevi flammei
  634	Netherton syndrome
  635	Neuroblastoma
  636	Neurofibromatosis type 1
  638	Neurofibromatosis-Noonan syndrome
  646	Niemann-Pick disease type C
  712	Hemolytic anemia due to glucophosphate isomerase deficiency
  713	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
  718	Isolated Pierre Robin syndrome
  720	Pili bifurcati
  772	Infantile Refsum disease
  564178	Primary hypomagnesemia-refractory seizures-intellectual disability syndrome
  565612	Primary triglyceride deposit cardiomyovasculopathy
  566175	Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome
  566231	Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha
  567548	Idiopathic steroid-resistant nephrotic syndrome
  569248	Microcystic stromal tumor
  569821	Congenital primary lymphedema of Gordon
  570422	Galactose mutarotase deficiency
  572354	Blepharophimosis-ptosis-epicanthus inversus syndrome type 1
  576235	Partial atrioventricular septal defect without ventricular hypoplasia
  576242	Intermediate atrioventricular septal defect
  589435	Spondylometaphyseal dysplasia-corneal dystrophy syndrome
  589534	Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)
  589830	Adult-onset Steinert myotonic dystrophy
  589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
  590539	Isolated melanotic schwannoma
  592850	Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies
  592873	Acute transverse myelitis with anti-MOG antibodies
  597746	Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome
  598363	Multisystem inflammatory syndrome in children and adults
  599513	Acquired factor XIII deficiency
  599579	Factor V Amsterdam bleeding disorder
  601023	Non-syndromic anorectal malformation with rectal stenosis
  603448	Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
  603689	KLHL7-related Bohring-Opitz-like syndrome
  617294	Twin anemia-polycythemia sequence
  617297	Twin-reversed arterial perfusion sequence
  620146	Non-syndromic unisquamosal craniosynostosis
  620158	Non-syndromic non-specific multisutural craniosynostosis
  620371	Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation
  622099	Superior mesenteric artery syndrome
  631073	Autosomal recessive spastic paraplegia type 82
  631251	Cancer of unknown primary site
  633211	Preaxial digit brachydactyly-webbed fingers
  634511	Mosaic Legius syndrome
  637061	Isolated optic nerve hypoplasia
  642675	CHD8 overgrowth syndrome
  642691	Fragile X-associated primary ovarian insufficiency
  642954	Autosomal recessive ataxia due to PEX16 deficiency
  643503	Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome
  645340	Non-terminal myelocystocele
  646136	Dysplastic cortical hyperostosis, Al-Gazali type
  647681	Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome
  647772	Isolated primary pigmented nodular adrenocortical disease
  648581	Digenic hemochromatosis
  649010	Non-syndromic congenital bronchial atresia
  786	Generalized glucocorticoid resistance syndrome
  790	Retinoblastoma
  818	Smith-Lemli-Opitz syndrome
  820	Sneddon syndrome
  822	Hereditary spherocytosis
  842	Testicular seminomatous germ cell tumor
  845	Tay-Sachs disease
  848	Beta-thalassemia
  853	Fetal and neonatal alloimmune thrombocytopenia
  859	Transcobalamin deficiency
  864	Trichofolliculoma
  879	Tungiasis
  901	Wells syndrome
  909	Cerebrotendinous xanthomatosis
  915	Aarskog-Scott syndrome
  972	Hereditary continuous muscle fiber activity
  973	Congenital absence/hypoplasia of fingers excluding thumb, unilateral
  989	Hypoglossia-hypodactyly syndrome
  990	Agnathia-holoprosencephaly-situs inversus syndrome
  1014	Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome
  1071	Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
  1106	Microphthalmia with limb anomalies
  1117	Aplasia cutis-myopia syndrome
  1130	Arachnodactyly-intellectual disability-dysmorphism syndrome
  1135	Arrhinia-choanal atresia-microphthalmia syndrome
  1146	Distal arthrogryposis type 1
  1147	Sheldon-Hall syndrome
  1163	Aspergillosis
  1166	Congenital unilateral hypoplasia of depressor anguli oris
  1173	Cerebellar ataxia-hypogonadism syndrome
  1188	Ataxia-deafness-intellectual disability syndrome
  1193	Atkin-Flaitz syndrome
  1207	Pulmonary atresia with ventricular septal defect
  1216	Autosomal dominant congenital benign spinal muscular atrophy
  1240	Metaphyseal acroscyphodysplasia
  1253	Ascher syndrome
  1272	Aymé-Gripp syndrome
  1297	Branchio-oculo-facial syndrome
  1308	C syndrome
  1320	Idiopathic camptocormia
  1332	Medullary thyroid carcinoma
  1358	Carey-Fineman-Ziter syndrome
  1368	Cataract-ataxia-deafness syndrome
  1375	Cataract-hypertrichosis-intellectual disability syndrome
  1414	Cholestasis-lymphedema syndrome
  1425	Desbuquois syndrome
  1433	Choroidal atrophy-alopecia syndrome
  1436	X-linked skeletal dysplasia-intellectual disability syndrome
  1439	Ring chromosome 12 syndrome
  1458	CODAS syndrome
  1471	Coloboma of macula-brachydactyly type B syndrome
  1496	Corpus callosum agenesis-neuronopathy syndrome
  1506	Thin ribs-tubular bones-dysmorphism syndrome
  1517	Cantú syndrome
  1551	Familial benign copper deficiency
  1562	Dacryocystitis-osteopoikilosis syndrome
  1570	Symbrachydactyly of hands and feet
  1581	Non-distal deletion 10q
  1587	Monosomy 13q14
  1606	1p36 deletion syndrome
  1657	Dermatoosteolysis, Kirghizian type
  1679	Diphtheria
  1742	Trisomy 5p
  1759	Thoraco-abdominal enteric duplication
  1780	Thakker-Donnai syndrome
  1782	Dysosteosclerosis
  1790	Hypomandibular faciocranial dysostosis
  1809	Hidrotic ectodermal dysplasia, Halal type
  1825	Epiphyseal dysplasia-hearing loss-dysmorphism syndrome
  1827	Acromelic frontonasal dysplasia
  1830	Schimke immuno-osseous dysplasia
  1865	Dyssegmental dysplasia, Silverman-Handmaker type
  1872	Cone rod dystrophy
  1878	TRIM32-related limb-girdle muscular dystrophy R8
  1884	Ectopia lentis-chorioretinal dystrophy-myopia syndrome
  1892	Ectrodactyly-polydactyly syndrome
  1899	Arthrochalasia Ehlers-Danlos syndrome
  1915	Fetal alcohol syndrome
  1929	Rasmussen subacute encephalitis
  1949	Benign familial neonatal epilepsy
  1954	Congenital lethal erythroderma
  1957	Esthesioneuroblastoma
  1970	Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
  1973	Faciocardiorenal syndrome
  1980	Bilateral striopallidodentate calcinosis
  1987	Femoral agenesis/hypoplasia
  1995	Cleft lip-retinopathy syndrome
  2028	Juvenile hyaline fibromatosis
  2032	Idiopathic pulmonary fibrosis
  2041	Coronary arterial fistula
  2050	Cole-Carpenter syndrome
  2074	Gemignani syndrome
  2111	Cystic hamartoma of lung and kidney
  2117	Hartsfield syndrome
  2123	Diffuse neonatal hemangiomatosis
  2132	Hemoglobin C disease
  2136	Hennekam syndrome
  2157	Histidinemia
  2172	Microcephaly-glomerulonephritis-marfanoid habitus syndrome
  2181	Hydrocephaly-tall stature-joint laxity syndrome
  2198	Palmoplantar keratoderma-esophageal carcinoma syndrome
  2228	Hypodontia-dysplasia of nails syndrome
  2234	Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
  2235	Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
  2273	Ichthyosis follicularis-alopecia-photophobia syndrome
  2285	Primary basilar invagination
  2290	Microvillus inclusion disease
  2298	Insulin-resistance syndrome type B
  2306	Isotretinoin-like syndrome
  2307	IVIC syndrome
  2308	Jacobsen syndrome
  2312	Transient familial neonatal hyperbilirubinemia
  2321	Jung syndrome
  2331	Kawasaki disease
  2347	Lethal Kniest-like dysplasia
  2379	Early-onset parkinsonism-intellectual disability syndrome
  2414	Congenital pulmonary lymphangiectasia
  2438	Hand-foot-genital syndrome
  2466	MASA syndrome
  2485	Melorheostosis
  2492	FATCO syndrome
  2500	Acrogeria
  2502	Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
  2518	Autosomal recessive chorioretinopathy-microcephaly syndrome
  2523	Microcephaly-brain defect-spasticity-hypernatremia syndrome
  2524	Pontocerebellar hypoplasia type 2
  2536	Microcornea-glaucoma-absent frontal sinuses syndrome
  2551	Microspherophakia-metaphyseal dysplasia syndrome
  2552	Microsporidiosis
  2560	Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
  2582	Myalgia-eosinophilia syndrome associated with tryptophan
  2612	Linear nevus sebaceus syndrome
  2619	Brachydactylous dwarfism, Mseleni type
  2633	Mesomelic dysplasia, Nievergelt type
  2639	Fibular aplasia-complex brachydactyly syndrome
  2643	Microcephalic primordial dwarfism, Toriello type
  2655	Thanatophoric dysplasia
  2674	Cyprus facial-neuromusculoskeletal syndrome
  2730	Postaxial tetramelic oligodactyly
  2737	Onchocerciasis
  2754	Orofaciodigital syndrome type 6
  2763	Osteocraniostenosis
  2773	Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
  2802	X-linked sideroblastic anemia and spinocerebellar ataxia
  2806	Subacute sclerosing leukoencephalitis
  2807	Papilloma of choroid plexus
  2831	Rhizomelic dysplasia, Patterson-Lowry type
  2833	Stiff skin syndrome
  2835	Pectus excavatum-macrocephaly-dysplastic nails syndrome
  2838	Renal caliceal diverticuli-deafness syndrome
  2842	Penoscrotal transposition
  2855	Perrault syndrome
  2866	Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
  2928	Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
  2953	Musculocontractural Ehlers-Danlos syndrome
  2968	Leukocyte adhesion deficiency
  2976	Pseudoleprechaunism syndrome, Patterson type
  3006	Pyridoxine-dependent epilepsy
  3008	Pyruvate carboxylase deficiency
  3018	Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome
  3051	Nicolaides-Baraitser syndrome
  3052	X-linked intellectual disability-seizures-psoriasis syndrome
  3074	Intellectual disability-short stature-hypertelorism syndrome
  3077	X-linked intellectual disability-psychosis-macroorchidism syndrome
  3088	Revesz syndrome
  3096	Reye syndrome
  3103	Roberts syndrome
  3134	SCARF syndrome
  3148	Malignant peripheral nerve sheath tumor
  3151	Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome
  3164	Omphalocele syndrome, Shprintzen-Goldberg type
  3180	Spondylocamptodactyly syndrome
  3261	Autoimmune lymphoproliferative syndrome
  3265	Humero-radial synostosis
  3283	His bundle tachycardia
  3299	Tetanus
  3316	Thomas syndrome
  3328	Absent tibia-polydactyly-arachnoid cyst syndrome
  3355	Trichoodontoonychial dysplasia
  3374	Unilateral ocular duplication
  3402	Transient tyrosinemia of the newborn
  3429	Verloove Vanhorick-Brubakk syndrome
  3434	MMEP syndrome
  3439	Von Voss-Cherstvoy syndrome
  3454	Intellectual disability-developmental delay-contractures syndrome
  3456	Wildervanck syndrome
  3471	Young syndrome
  26348	Acquired prothrombin deficiency
  29073	Multiple myeloma
  34149	Autosomal dominant tubulointerstitial kidney disease
  34515	FKRP-related limb-girdle muscular dystrophy R9
  34516	DNAJB6-related limb-girdle muscular dystrophy D1
  35069	Infantile neuroaxonal dystrophy
  35701	3-hydroxy-3-methylglutaryl-CoA synthase deficiency
  36386	Hereditary sensory and autonomic neuropathy type 1
  39044	Uveal melanoma
  39812	Graft versus host disease
  44890	Gastrointestinal stromal tumor
  46135	Primary central nervous system lymphoma
  46348	Paroxysmal extreme pain disorder
  46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
  47612	Felty syndrome
  48377	Subcorneal pustular dermatosis
  50815	Branchiogenic deafness syndrome
  52368	Mohr-Tranebjaerg syndrome
  53697	Gnathodiaphyseal dysplasia
  55654	Hypotrichosis simplex
  55880	Chondrosarcoma
  59298	Schilder disease
  59303	Neonatal ichthyosis-sclerosing cholangitis syndrome
  59306	McLeod neuroacanthocytosis syndrome
  60040	Megalencephaly-capillary malformation-polymicrogyria syndrome
  63862	Schisis association
  63999	IgG4-related mediastinitis
  64734	Iridocorneal endothelial syndrome
  64744	IgG4-related thyroid disease
  64751	Hereditary motor and sensory neuropathy type 5
  65683	Isolated focal cortical dysplasia
  65798	Goodman syndrome
  66630	Congenital pseudoarthrosis of the clavicle
  67043	Amoebic keratitis
  67048	3-methylglutaconic aciduria type 4
  69665	Intrahepatic cholestasis of pregnancy
  69744	Circumscribed palmoplantar hypokeratosis
  70588	Meconium aspiration syndrome
  70591	Chronic thromboembolic pulmonary hypertension
  70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
  71274	Disseminated peritoneal leiomyomatosis
  71276	Silent sinus syndrome
  73423	Acute ackee fruit intoxication
  75249	Familial isolated restrictive cardiomyopathy
  75374	Bradyopsia
  75378	Oligocone trichromacy
  75391	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
  75563	X-linked sideroblastic anemia
  75566	Loeffler endocarditis
  79101	Hyperprolinemia type 2
  79113	Mandibulofacial dysostosis-microcephaly syndrome
  79133	Focal facial dermal dysplasia type I
  79141	Hereditary painful callosities
  79147	Familial reactive perforating collagenosis
  79237	Galactokinase deficiency
  79256	GM1 gangliosidosis type 2
  79258	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
  79332	B4GALT1-CDG
  79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form
  79414	Woolly hair nevus
  79444	Pseudohypoparathyroidism type 1C
  79473	Porphyria variegata
  79485	Phakomatosis spilorosea
  79492	Pili gemini
  83315	Murine typhus
  83419	Proximal spinal muscular atrophy type 3
  83420	Proximal spinal muscular atrophy type 4
  83594	Eastern equine encephalitis
  85164	Camptodactyly-tall stature-scoliosis-hearing loss syndrome
  85179	Infantile osteopetrosis with neuroaxonal dysplasia
  85283	X-linked intellectual disability, Miles-Carpenter type
  85286	X-linked intellectual disability, Shashi type
  85287	X-linked intellectual disability, Siderius type
  85321	Deafness-intellectual disability syndrome, Martin-Probst type
  85338	X-linked intellectual disability-ataxia-apraxia syndrome
  85443	AL amyloidosis
  85445	AA amyloidosis
  85448	AGel amyloidosis
  85458	Hereditary cerebral hemorrhage with amyloidosis
  86797	Atypical lichen myxedematosus
  86812	POMT1-related limb-girdle muscular dystrophy R11
  86816	Congenital analbuminemia
  86819	Atrichia with papular lesions
  86821	Lissencephaly type 3-familial fetal akinesia sequence syndrome
  86867	Nodal marginal zone B-cell lymphoma
  86872	T-cell large granular lymphocyte leukemia
  86893	Nodular lymphocyte predominant Hodgkin lymphoma
  86896	Histiocytic sarcoma
  86903	Dendritic cell sarcoma not otherwise specified
  86914	Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome
  88619	Familial acute necrotizing encephalopathy
  88635	Vacuolar myopathy with sarcoplasmic reticulum protein aggregates
  88644	Autosomal recessive ataxia, Beauce type
  89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
  90002	Undifferentiated connective tissue syndrome
  90050	Retinopathy of prematurity
  90062	Acute liver failure
  90081	AIDS wasting syndrome
  90103	Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
  90120	Hereditary motor and sensory neuropathy type 6
  90283	Lupus erythematosus tumidus
  90301	Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome
  90363	Secondary intestinal lymphangiectasia
  90394	Discrete papular lichen myxedematosus
  90396	Acral persistent papular mucinosis
  90399	Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms
  90646	Deafness-hypogonadism syndrome
  90652	Otopalatodigital syndrome type 2
  90790	Congenital lipoid adrenal hyperplasia due to STAR deficency
  91135	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
  91351	Pituitary dermoid and epidermoid cysts
  91355	Sheehan syndrome
  91364	Non-specific interstitial pneumonia
  91396	Isolated cryptophthalmia
  91500	Tubulointerstitial nephritis and uveitis syndrome
  93164	Transient pseudohypoaldosteronism
  93276	Polyostotic fibrous dysplasia
  93283	Spondyloepiphyseal dysplasia, Kimberley type
  93293	Okihiro syndrome
  93555	Mixed cryoglobulinemia type III
  93558	Light chain deposition disease
  93571	Dense deposit disease
  93925	Alobar holoprosencephaly
  93958	Oromandibular dystonia
  93964	Blepharospasm-oromandibular dystonia syndrome
  94089	Pseudohypoparathyroidism type 1B
  94124	Spinocerebellar ataxia with axonal neuropathy type 1
  95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
  95494	Combined pituitary hormone deficiencies, genetic forms
  95613	Pituitary apoplexy
  96096	Distal duplication 4q
  96103	Distal duplication 11q
  96107	Distal duplication 20q
  96121	7q11.23 microduplication syndrome
  96170	Emanuel syndrome
  96179	Maternal uniparental disomy of chromosome 2
  96191	Paternal uniparental disomy of chromosome 6
  96194	Paternal uniparental disomy of chromosome 20
  96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
  97229	Riboflavin transporter deficiency
  97238	Rippling muscle disease
  97239	Reducing body myopathy
  97330	Thoracic outlet syndrome
  97346	ADan amyloidosis
  97362	Renal hypoplasia, bilateral
  97563	Pauci-immune glomerulonephritis with ANCA
  97567	Immunotactoid glomerulopathy
  98267	Genetic non-syndromic obesity
  98769	Spinocerebellar ataxia type 15/16
  98811	Paroxysmal exertion-induced dyskinesia
  98813	Hypohidrotic ectodermal dysplasia with immunodeficiency
  98815	Benign childhood occipital epilepsy, Panayiotopoulos type
  98842	Lymphomatoid papulosis
  98890	Early-onset X-linked optic atrophy
  98911	Distal myotilinopathy
  98917	Acute motor and sensory axonal neuropathy
  98950	Partial cryptophthalmia
  98951	Inverse Marcus-Gunn phenomenon
  98955	Lisch epithelial corneal dystrophy
  98958	Climatic droplet keratopathy
  98959	Subepithelial mucinous corneal dystrophy
  98988	Early-onset anterior polar cataract
  99043	Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis
  99063	Shone complex
  99079	Cervical aortic arch
  99087	Coronary ostial stenosis or atresia
  99089	Abnormal number of coronary ostia
  99094	Laubry-Pezzi syndrome
  99095	Congenital Gerbode defect
  99098	Cor triatriatum dexter
  99112	Absence of innominate vein
  99329	48,XYYY syndrome
  99704	Early-onset obesity-hyperphagia-severe developmental delay syndrome
  99736	Acetazolamide-responsive myotonia
  99789	Dentin dysplasia type I
  99802	Hemimegalencephaly
  99803	Haddad syndrome
  99806	Oculootodental syndrome
  99824	Lassa fever
  99844	Leukocyte adhesion deficiency type III
  99857	Secondary syringomyelia
  99865	Spermatocytic seminoma
  99903	Spirillary rat-bite fever
  99918	Streptococcal toxic-shock syndrome
  99925	Invasive mole
  99940	Autosomal dominant Charcot-Marie-Tooth disease type 2F
  99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2
  99967	Myxoid/round cell liposarcoma
  99970	Dedifferentiated liposarcoma
  99995	Complex regional pain syndrome type 1
  100000	Reticular perineurioma
  100013	Lissencephaly with cerebellar hypoplasia type C
  100014	Lissencephaly with cerebellar hypoplasia type D
  100020	Refractory anemia with excess blasts type 2
  100024	Mu-heavy chain disease
  100034	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
  100047	Esophageal duplication cyst
  100055	Acquired angioedema type 2
  100081	Neuroendocrine tumor of the rectum
  100924	Porphyria due to ALA dehydratase deficiency
  100978	Cloverleaf skull-asphyxiating thoracic dysplasia syndrome
  101075	X-linked Charcot-Marie-Tooth disease type 1
  101076	X-linked Charcot-Marie-Tooth disease type 2
  101083	Charcot-Marie-Tooth disease type 1C
  101092	Hyper-IgM syndrome type 5
  101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
  101101	Charcot-Marie-Tooth disease type 2B2
  101150	Autosomal recessive dopa-responsive dystonia
  101334	African tick typhus
  102381	Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor
  137577	Neonatal hypoxic and ischemic brain injury
  137593	Infectious epithelial keratitis
  137631	Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
  137634	Overgrowth-macrocephaly-facial dysmorphism syndrome
  137783	Lethal congenital contracture syndrome type 3
  137839	Lemierre syndrome
  137920	Choanal atresia, bilateral
  137926	Primary laryngeal lymphangioma
  137935	Laryngotracheal angioma
  139431	Jeavons syndrome
  139474	17q11.2 microduplication syndrome
  139518	Distal hereditary motor neuropathy type 1
  140908	Brachydactyly type B2
  140941	Short stature due to primary acid-labile subunit deficiency
  140976	RHYNS syndrome
  141071	Digestive duplication cyst of the tongue
  141083	Nasolacrimal duct cyst
  141103	Nasal dermoid cyst
  141124	Congenital laryngeal cyst
  141145	Hemifacial hyperplasia
  141168	Frontonasal arteriovenous malformation
  141171	Maxillary arteriovenous malformation
  141219	Nasal dorsum fistula
  158000	Juvenile xanthogranuloma
  158011	Necrobiotic xanthogranuloma
  158681	Epidermolysis bullosa simplex with circinate migratory erythema
  163665	Spondyloepiphyseal dysplasia tarda, Kohn type
  163985	Hyperekplexia-epilepsy syndrome
  166016	Multiple epiphyseal dysplasia, Lowry type
  166029	Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia
  166105	FASTKD2-related infantile mitochondrial encephalomyopathy
  166113	Bazex syndrome
  166427	Startle epilepsy
  168451	Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome
  168491	Late infantile neuronal ceroid lipofuscinosis
  168569	H syndrome
  168606	Seborrhea-like dermatitis with psoriasiform elements
  168621	Dysplasia of head of femur, Meyer type
  168953	Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement
  169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
  169793	Severe hemophilia B
  169802	Severe hemophilia A
  171607	X-linked spastic paraplegia type 34
  178342	Inflammatory myofibroblastic tumor
  178345	Aromatase excess syndrome
  178487	Adult intestinal botulism
  178533	Primary cutaneous gamma/delta-positive T-cell lymphoma
  178544	Primary cutaneous diffuse large B-cell lymphoma, leg type
  180111	Bicervical bicornuate uterus with patent cervix and vagina
  183663	Hyper-IgM syndrome with susceptibility to opportunistic infections
  199302	Isolated cleft lip
  199323	Endophthalmitis
  199630	Isolated cerebellar vermis hypoplasia
  206436	Infantile Krabbe disease
  206554	Fukutin-related limb-girdle muscular dystrophy R13
  206575	Rippling muscle disease with myasthenia gravis
  206994	Bacterial myositis
  209905	Brain-lung-thyroid syndrome
  209908	Isolated childhood apraxia of speech
  213528	Rare adenocarcinoma of the breast
  213557	Salivary gland type cancer of the breast
  213610	Carcinosarcoma of the corpus uteri
  213615	Rhabdomyosarcoma of the corpus uteri
  213716	Squamous cell carcinoma of the corpus uteri
  213721	Undifferentiated carcinoma of the corpus uteri
  213726	Serous carcinoma of the corpus uteri
  213767	Squamous cell carcinoma of the cervix uteri
  213792	Adenosarcoma of the cervix uteri
  216972	Niemann-Pick disease type C, severe perinatal form
  217067	Pouchitis
  217260	Progressive multifocal leukoencephalopathy
  217266	BNAR syndrome
  217371	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  217385	17p13.3 microduplication syndrome
  217399	Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation
  217557	Pulmonary interstitial glycogenosis
  220295	Xeroderma pigmentosum-Cockayne syndrome complex
  220448	Macrothrombocytopenia with mitral valve insufficiency
  221008	Rothmund-Thomson syndrome type 1
  221016	Rothmund-Thomson syndrome type 2
  221054	Acrocephalopolydactyly
  221091	Trigeminal neuralgia
  221126	Fowler vasculopathy
  225154	Familial infantile bilateral striatal necrosis
  227510	Multiple system atrophy, cerebellar type
  228116	Hughes-Stovin syndrome
  228236	Linear focal elastosis
  228243	Elastofibroma dorsi
  228277	Familial anetoderma
  228290	White fibrous papulosis of the neck
  228293	Pseudoxanthoma elasticum-like papillary dermal elastolysis
  228340	CLN4A disease
  228363	CLN6 disease
  228410	Polyvalvular heart disease syndrome
  231117	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
  231249	Hemoglobin E-beta-thalassemia syndrome
  238269	AApoAII amyloidosis
  238329	Severe X-linked mitochondrial encephalomyopathy
  238593	IgG4-related mesenteritis
  238670	Isolated thyrotropin-releasing hormone deficiency
  238722	Familial congenital mirror movements
  238769	1q44 microdeletion syndrome
  240071	Classic progressive supranuclear palsy syndrome
  240094	Progressive supranuclear palsy-pure akinesia with gait freezing syndrome
  240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome
  243343	Dimethylglycine dehydrogenase deficiency
  247245	Superficial siderosis
  247768	Müllerian aplasia and hyperandrogenism
  247794	Juvenile cataract-microcornea-renal glucosuria syndrome
  247827	Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome
  250923	Isolated aniridia
  251287	Benign concentric annular macular dystrophy
  251304	Infantile onset panniculitis with uveitis and systemic granulomatosis
  251370	Sickle cell-hemoglobin D disease syndrome
  251393	Localized junctional epidermolysis bullosa
  251510	46,XY partial gonadal dysgenesis
  251579	Giant cell glioblastoma
  251601	Fibrillary astrocytoma
  251627	Oligodendroglioma
  251674	Chordoid glioma
  251931	Cerebellar liponeurocytoma
  252050	Primary melanoma of the central nervous system
  252206	Melanoma and neural system tumor syndrome
  254351	Distal 7q11.23 microdeletion syndrome
  254379	Linear lichen planus
  254516	Temple syndrome
  254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
  254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
  254881	Spinocerebellar ataxia with epilepsy
  261112	Monosomy 9p
  261197	Proximal 16p11.2 microdeletion syndrome
  261494	Kleefstra syndrome
  261519	Maternal uniparental disomy of chromosome X
  263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
  263487	COG5-CDG
  263494	DPM3-CDG
  263534	Acral peeling skin syndrome
  263543	Generalized peeling skin syndrome
  268162	Intermediate maple syrup urine disease
  268820	Cranial meningocele
  268826	Parietal encephalocele
  268973	Isolated focal cortical dysplasia type Ia
  269212	Isolated Dandy-Walker malformation with hydrocephalus
  275872	Frontotemporal dementia with motor neuron disease
  276183	Spinocerebellar ataxia type 32
  276212	Mucopolysaccharidosis type 6, rapidly progressing
  276238	Machado-Joseph disease type 1
  276435	Lower motor neuron syndrome with late-adult onset
  276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
  276603	Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
  279882	Spasmus nutans
  279891	Chronic endophthalmitis
  280195	Septopreoptic holoprosencephaly
  280365	Autosomal semi-dominant severe lipodystrophic laminopathy
  280558	Warsaw breakage syndrome
  280586	Chondrodysplasia with joint dislocations, gPAPP type
  280763	Severe intellectual disability and progressive spastic paraplegia
  280794	Pseudoxanthomatous diffuse cutaneous mastocytosis
  280847	Congenital pulmonary airway malformation type 3
  284395	Well-differentiated fetal adenocarcinoma of the lung
  284454	Acute zonal occult outer retinopathy
  284973	Marfan syndrome type 2
  289347	Infective dermatitis associated with HTLV-1
  289356	Primary non-gestational choriocarcinoma of ovary
  289365	Familial vesicoureteral reflux
  289385	Malignancy diagnosed during pregnancy
  289499	Congenital cataract microcornea with corneal opacity
  289596	Juvenile nasopharyngeal angiofibroma
  293168	Infantile-onset ascending hereditary spastic paralysis
  293375	Grayson-Wilbrandt corneal dystrophy
  293621	X-linked endothelial corneal dystrophy
  293936	EDICT syndrome
  294986	Apodia
  295036	Congenital patella dislocation
  295241	Macrodactyly of fingers, bilateral
  295243	Macrodactyly of toes, unilateral
  300382	Progeroid and marfanoid aspect-lipodystrophy syndrome
  300525	Pseudohypoaldosteronism type 2D
  300547	Autosomal recessive infantile hypercalcemia
  300576	Oligodontia-cancer predisposition syndrome
  300605	Juvenile amyotrophic lateral sclerosis
  306511	Autosomal recessive spastic paraplegia type 48
  306550	FADD-related immunodeficiency
  306661	Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
  308386	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
  308393	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
  308621	Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
  308684	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
  308698	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
  309031	Pancreatic triacylglycerol lipase deficiency
  309271	Metachromatic leukodystrophy, adult form
  309282	Alpha-mannosidosis, infantile form
  309288	Alpha-mannosidosis, adult form
  309803	Rhizomelic chondrodysplasia punctata type 3
  313808	Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
  314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
  314422	Ameloblastic carcinoma
  314473	Ovarian fibroma
  314647	Non-progressive cerebellar ataxia with intellectual disability
  314684	Primary bone lymphoma
  314790	Null pituitary adenoma
  319195	Chondroectodermal dysplasia with night blindness
  319213	Lujo hemorrhagic fever
  319254	Kyasanur forest disease
  319480	Acute myeloid leukemia with CEBPA somatic mutations
  319487	Familial papillary or follicular thyroid carcinoma
  319595	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
  319600	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  319651	Constitutional megaloblastic anemia with severe neurologic disease
  324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
  324708	ABeta amyloidosis, Iowa type
  329324	Inverse Klippel-Trénaunay syndrome
  329329	Autosomal recessive frontotemporal pachygyria
  329931	C3 glomerulonephritis
  329942	Transient neonatal multiple acyl-CoA dehydrogenase deficiency
  331235	Selective IgM deficiency
  352649	Brain dopamine-serotonin vesicular transport disease
  352682	Cobblestone lissencephaly without muscular or ocular involvement
  352763	Scleredema
  353220	Familial primary localized cutaneous amyloidosis
  353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  357074	Autosomal recessive cutis laxa type 2, classic type
  357154	Oral submucous fibrosis
  357237	Severe combined immunodeficiency due to CARD11 deficiency
  357332	Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome
  363409	Fetal akinesia-cerebral and retinal hemorrhage syndrome
  363429	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
  363447	Autosomal dominant childhood-onset proximal spinal muscular atrophy
  363489	Sex cord-stromal tumor of testis
  363494	Non-seminomatous germ cell tumor of testis
  363618	LMNA-related cardiocutaneous progeria syndrome
  363717	Alexander disease type I
  363965	Koolen-De Vries syndrome due to a point mutation
  363976	Giant cell tumor of bone
  363981	Charcot-Marie-Tooth disease type 4B3
  363999	Non-immune hydrops fetalis
  364198	Bipartite talus
  369861	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
  369867	Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
  369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
  369913	Combined oxidative phosphorylation defect type 17
  369962	Methylmalonic acidemia with homocystinuria, type cblX
  370348	Peripheral primitive neuroectodermal tumor
  370959	Congenital muscular dystrophy with cerebellar involvement
  370968	Congenital muscular dystrophy with intellectual disability
  391316	Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
  391320	East Texas bleeding disorder
  391327	X-linked calvarial hyperostosis
  391348	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
  391497	Juvenile myasthenia gravis
  391655	Off-periods in Parkinson disease not responding to oral treatment
  391673	Necrotizing enterocolitis
  397692	Hereditary isolated aplastic anemia
  397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
  397787	Severe combined immunodeficiency due to IKK2 deficiency
  397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome
  397964	Combined immunodeficiency due to MALT1 deficiency
  398069	MAGEL2-related Prader-Willi-like syndrome
  398079	SIM1-related Prader-Willi-like syndrome
  398109	Neonatal autoimmune hemolytic anemia
  398124	Neonatal lupus erythematosus
  399081	KLHL9-related early-onset distal myopathy
  399086	Finnish upper limb-onset distal myopathy
  399329	Epiphysiolysis of the hip
  401768	Proximal myopathy with extrapyramidal signs
  401923	9q31.1q31.3 microdeletion syndrome
  401964	Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
  401996	Karyomegalic interstitial nephritis
  402003	Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
  402035	Eosinophilic colitis
  402075	Familial bicuspid aortic valve
  404443	Tatton-Brown-Rahman syndrome
  411590	Wolfram-like syndrome
  411602	Hereditary late-onset Parkinson disease
  411629	Infantile nephropathic cystinosis
  418945	Carcinoma of esophagus, salivary gland type
  420728	Combined oxidative phosphorylation defect type 20
  423296	Spinocerebellar ataxia type 38
  423712	Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy
  423894	Microcephaly-complex motor and sensory axonal neuropathy syndrome
  431166	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
  431255	Scapuloperoneal spinal muscular atrophy
  431329	Autosomal recessive spastic paraplegia type 57
  431344	Urachal sinus
  431347	Urachal diverticulum
  435638	3p25.3 microdeletion syndrome
  435845	Lethal neonatal spasticity-epileptic encephalopathy syndrome
  435998	Autosomal recessive intermediate Charcot-Marie-Tooth disease type D
  436144	Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome
  436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
  439822	PDE4D haploinsufficiency syndrome
  440392	Interstitial lung disease due to SP-C deficiency
  440724	Extensive peripapillary myelinated nerve fibers
  443057	Sporadic porphyria cutanea tarda
  443073	Charcot-Marie-Tooth disease type 2S
  443084	Baroreflex failure
  443236	Postural orthostatic tachycardia syndrome due to NET deficiency
  444138	Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome
  445018	Combined immunodeficiency due to LRBA deficiency
  447731	NIK deficiency
  447784	Mitochondrial pyruvate carrier deficiency
  448010	CAD-CDG
  448242	Autosomal recessive brachyolmia
  449280	Scedosporiosis
  454718	Holmes-Adie syndrome
  454836	Avian influenza
  9	Tetrasomy X
  10	48,XXYY syndrome
  11	Pentasomy X
  20	3-hydroxy-3-methylglutaric aciduria
  30	Hereditary orotic aciduria
  38	Acrokeratoelastoidosis of Costa
  44	Neonatal adrenoleukodystrophy
  53	Albers-Schönberg osteopetrosis
  71	Chylomicron retention disease
  80	Antiphospholipid syndrome
  81	Antisynthetase syndrome
  84	Fanconi anemia
  88	Idiopathic aplastic anemia
  91	Aromatase deficiency
  108	Babesiosis
  116	Beckwith-Wiedemann syndrome
  126	Blepharophimosis-ptosis-epicanthus inversus syndrome
  135	CACH syndrome
  457077	TAFRO syndrome
  457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
  457240	X-linked intellectual disability-short stature-overweight syndrome
  457260	X-linked intellectual disability-hypotonia-movement disorder syndrome
  457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
  457375	ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
  457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
  458792	Mixed cystic lymphatic malformation
  459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
  459074	Corpus callosum agenesis-macrocephaly-hypertelorism syndrome
  464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome
  464370	Neonatal alloimmune neutropenia
  464443	COG6-CGD
  464453	Acquired methemoglobinemia
  465824	Fetal encasement syndrome
  466682	Euthyroid Graves orbitopathy
  466962	SMARCA4-deficient sarcoma of thorax
  477738	Pediatric multiple sclerosis
  480524	Idiopathic peliosis hepatis
  480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
  481152	PYCR2-related microcephaly-progressive leukoencephalopathy
  488197	Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
  488239	Acute macular neuroretinopathy
  488594	Autosomal recessive spastic paraplegia type 76
  488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
  496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome
  497764	Spinocerebellar ataxia type 43
  498488	Overgrowth syndrome with 2q37 translocation
  498602	Sugarman brachydactyly
  500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom
  500188	X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
  500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome
  500545	Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract
  506075	Non-functioning neuroendocrine tumor of pancreas
  506784	Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome
  508093	MEPAN syndrome
  508501	Oral-facial-digital syndrome with short stature and brachymesophalangy
  508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
  514352	Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome
  519400	Peripapillary staphyloma
  519402	Isolated megalopapilla
  519406	Thygeson superficial punctate keratitis
  519408	Mooren ulcer
  521438	Congenital vertebral-cardiac-renal anomalies syndrome
  522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
  527450	Severe myopia-generalized joint laxity-short stature syndrome
  527497	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy
  529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
  529799	Acute bilirubin encephalopathy
  529970	Male infertility due to acephalic spermatozoa
  531151	9q21.13 microdeletion syndrome
  536516	Myopathic Ehlers-Danlos syndrome
  538863	Classic pyoderma gangrenosum
  538931	X-linked lymphoproliferative disease due to SH2D1A deficiency
  542643	Livedoid vasculopathy
  544469	PRUNE1-related neurological syndrome
  556030	Early-onset familial hypoaldosteronism
  557064	Neonatal epileptic encephalopathy due to glutaminase deficiency
  564003	Osteochondrosis of the metatarsal bone
  157	Carnitine palmitoyltransferase II deficiency
  158	Systemic primary carnitine deficiency
  183	Eosinophilic granulomatosis with polyangiitis
  192	Coffin-Lowry syndrome
  201	Cowden syndrome
  211	Familial cylindromatosis
  218	Darier disease
  231	Dracunculiasis
  257	Epidermolysis bullosa simplex with muscular dystrophy
  261	Emery-Dreifuss muscular dystrophy
  269	Facioscapulohumeral dystrophy
  274	Bernard-Soulier syndrome
  284	Alveolar echinococcosis
  286	Vascular Ehlers-Danlos syndrome
  291	Congenital varicella syndrome
  292	Congenital enterovirus infection
  312	Autosomal dominant epidermolytic ichthyosis
  314	Erythroderma desquamativum
  329	Congenital factor XI deficiency
  331	Congenital factor XIII deficiency
  334	Familial atrial fibrillation
  337	Fibrodysplasia ossificans progressiva
  355	Gaucher disease
  373	Simpson-Golabi-Behmel syndrome
  375	Anti-glomerular basement membrane disease
  376	Gordon syndrome
  390	Histoplasmosis
  423	Malignant hyperthermia of anesthesia
  424	Familial hyperthyroidism due to mutations in TSH receptor
  428	Autosomal dominant hypocalcemia
  449	Hepatoblastoma
  464	Incontinentia pigmenti
  470	Lysinuric protein intolerance
  472	Isosporiasis
  495	Transgrediens et progrediens palmoplantar keratoderma
  499	Kerion celsi
  501	Lafora disease
  512	Metachromatic leukodystrophy
  520	Acute promyelocytic leukemia
  524	Li-Fraumeni syndrome
  528	Congenital generalized lipodystrophy
  536	Systemic lupus erythematosus
  540	Familial hemophagocytic lymphohistiocytosis
  548	Leprosy
  556	Malakoplakia
  564	Meckel syndrome
  565	Menkes disease
  580	Mucopolysaccharidosis type 2
  583	Mucopolysaccharidosis type 6
  585	Multiple sulfatase deficiency
  591	Furuncular myiasis
  626	Large congenital melanocytic nevus
  628	Diastrophic dysplasia
  639	Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG
  660	Omphalocele
  672	Pallister-Hall syndrome
  678	Papillon-Lefèvre syndrome
  682	Hyperkalemic periodic paralysis
  702	Pelizaeus-Merzbacher disease
  708	Peters anomaly
  715	Glycogen storage disease due to muscle phosphorylase kinase deficiency
  725	Continuous spikes and waves during sleep
  730	Autosomal dominant polycystic kidney disease
  740	Hutchinson-Gilford progeria syndrome
  745	Severe hereditary thrombophilia due to congenital protein C deficiency
  752	46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
  756	Pseudohypoaldosteronism type 1
  758	Pseudoxanthoma elasticum
  761	Immunoglobulin A vasculitis
  765	Pyruvate dehydrogenase deficiency
  767	Polyarteritis nodosa
  774	Hereditary hemorrhagic telangiectasia
  776	Lujan-Fryns syndrome
  565624	Combined oxidative phosphorylation defect type 39
  565788	Infantile inflammatory bowel disease with neurological involvement
  565909	Calpain-3-related limb-girdle muscular dystrophy D4
  566192	Congenital autosomal recessive small-platelet thrombocytopenia
  568051	GJC2-related late-onset primary lymphedema
  569164	Angiomatoid fibrous histiocytoma
  569274	Multiple mitochondrial dysfunctions syndrome type 5
  569816	CELSR1-related late-onset primary lymphedema
  570491	QRSL1-related combined oxidative phosphorylation defect
  572768	Microcephaly-micromelia syndrome
  572773	Microcephaly-short stature-limb abnormalities syndrome
  576349	NLRC4-related familial cold autoinflammatory syndrome
  583856	Isolated splenic vein thrombosis
  585929	B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)
  585948	B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)
  589608	Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies
  589618	Dystonia 28
  589824	Childhood-onset Steinert myotonic dystrophy
  589833	Late-onset Steinert myotonic dystrophy
  589856	Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
  592574	Menke-Hennekam syndrome
  592869	Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies
  592885	Isolated optic neuritis without anti-MOG antibodies
  592888	Isolated optic neuritis with anti-MOG antibodies
  596008	Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis
  596753	VEXAS syndrome
  597201	TRIM22-related inflammatory bowel disease
  599373	STXBP1-related encephalopathy
  599495	Acquired factor VII deficiency
  600975	Non-syndromic anorectal malformation with rectourethral fistula, prostatic type
  601033	Non-syndromic anorectal malformation with H-type fistula
  603494	Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome
  611247	Pontocerebellar hypoplasia type 11
  615986	Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster
  617408	Classic eosinophilic pustular folliculitis
  617440	Painful legs and moving toes syndrome
  618891	Chronic neurovisceral acid sphingomyelinase deficiency
  619953	Familial hyperinflammatory lymphoproliferative immunodeficiency
  620139	Non-syndromic unifrontosphenoidal craniosynostosis
  622934	SBDS-related severe neonatal spondylometaphyseal dysplasia
  623789	Body integrity dysphoria
  631079	Autosomal recessive spastic paraplegia type 84
  631103	Spinocerebellar ataxia type 48
  633004	KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome
  633124	Invasive scopulariopsis infection
  636950	Glaucomatocyclitic crisis disease
  636955	Endemic pemphigus foliaceus
  637013	SMARCA2-related blepharophimosis-intellectual disability syndrome
  641372	B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)
  642945	Perrault syndrome type 1
  645285	Chaotic conus spinal cord lipoma
  645337	Terminal myelocystocele
  646278	CDK13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome
  647794	Isolated persistent urogenital sinus
  647799	MYT1L-related developmental delay-intellectual disability-obesity syndrome
  648665	Infectious scleritis
  650082	Secondary central precocious puberty in female
  650092	Secondary central precocious puberty in male
  810	Shigellosis
  831	Congenital cervical spinal stenosis
  844	Lown-Ganong-Levine syndrome
  846	Alpha-thalassemia
  851	Paris-Trousseau thrombocytopenia
  857	Townes-Brocks syndrome
  858	Congenital toxoplasmosis
  884	Tetrasomy 12p
  896	Waardenburg syndrome type 3
  902	Werner syndrome
  904	Williams syndrome
  912	Zellweger syndrome
  913	Zollinger-Ellison syndrome
  926	Acatalasemia
  929	Achalasia-microcephaly syndrome
  930	Idiopathic achalasia
  931	Acheiropodia
  935	Short-limb skeletal dysplasia with severe combined immunodeficiency
  943	Malonic aciduria
  976	Adenine phosphoribosyltransferase deficiency
  981	Internal carotid absence
  1027	Autosomal recessive amelia
  1031	Enamel-renal syndrome
  1048	Isolated anencephaly/exencephaly
  1062	Hereditary neurocutaneous malformation
  1069	Aniridia-absent patella syndrome
  1101	Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
  1104	Anophthalmia plus syndrome
  1120	Lung agenesis-heart defect-thumb anomalies syndrome
  1129	Arachnodactyly-abnormal ossification-intellectual disability syndrome
  1131	X-linked mandibulofacial dysostosis
  1159	Progressive pseudorheumatoid arthropathy of childhood
  1179	Benign paroxysmal tonic upgaze of childhood with ataxia
  1184	Ataxia-photosensitivity-short stature syndrome
  1185	Spinocerebellar ataxia-dysmorphism syndrome
  1186	Infantile-onset spinocerebellar ataxia
  1208	Pulmonary atresia-intact ventricular septum syndrome
  1215	Autosomal dominant optic atrophy plus syndrome
  1234	Bartsocas-Papas syndrome
  1275	Brachydactyly-elbow wrist dysplasia syndrome
  1299	Branchioskeletogenital syndrome
  1310	Caffey disease
  1325	Camptodactyly-taurinuria syndrome
  1326	Camptodactyly syndrome, Guadalajara type 2
  1334	Chronic mucocutaneous candidiasis
  1336	Hyperkeratosis-hyperpigmentation syndrome
  1349	Mitochondrial DNA-related cardiomyopathy and hearing loss
  1350	Heart-hand syndrome type 2
  1359	Carney complex
  1380	Cataract-nephropathy-encephalopathy syndrome
  1387	Cataract-intellectual disability-hypogonadism syndrome
  1389	Cortical blindness-intellectual disability-polydactyly syndrome
  1427	Otospondylomegaepiphyseal dysplasia
  1429	Benign hereditary chorea
  1437	Ring chromosome 1 syndrome
  1443	Ring chromosome 19 syndrome
  1450	Ring chromosome 8 syndrome
  1485	Arthrogryposis-hyperkeratosis syndrome, lethal form
  1512	Crane-Heise syndrome
  1516	Non-syndromic bilambdoid and sagittal craniosynostosis
  1529	Craniofacial-deafness-hand syndrome
  1538	Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
  1540	Jackson-Weiss syndrome
  1561	Fatal infantile cytochrome C oxidase deficiency
  1573	Hypotrichosis with juvenile macular degeneration
  1598	Monosomy 18p
  1627	Deletion 5q35
  1647	Oculocerebrocutaneous syndrome
  1652	Dent disease
  1672	Diencephalic syndrome
  1682	Arterial dissection-lentiginosis syndrome
  1764	Familial dysautonomia
  1775	Dyskeratosis congenita
  1777	Temtamy syndrome
  1788	Acrofacial dysostosis, Rodríguez type
  1795	Peripheral dysostosis
  1801	Kyphomelic dysplasia
  1818	Ectodermal dysplasia, trichoodontoonychial type
  1836	Mesomelic dysplasia, Kantaputra type
  1852	X-linked retinal dysplasia
  1858	Skeletal dysplasia-epilepsy-short stature syndrome
  1895	Edinburgh malformation syndrome
  1897	EEM syndrome
  1902	Ehrlichiosis
  1926	Diabetic embryopathy
  1948	Epilepsy-microcephaly-skeletal dysplasia syndrome
  1955	Spinocerebellar ataxia type 34
  1968	Flat face-microstomia-ear anomaly syndrome
  1988	Femoral-facial syndrome
  2004	Laryngotracheoesophageal cleft
  2013	Cleft palate-large ears-small head syndrome
  2019	Femur-fibula-ulna complex
  2026	Gingival fibromatosis-hypertrichosis syndrome
  2036	Scalp-ear-nipple syndrome
  2040	Congenital respiratory-biliary fistula
  2070	Eosinophilic gastroenteritis
  2085	Glaucoma-sleep apnea syndrome
  2089	Glycogen storage disease due to hepatic glycogen synthase deficiency
  2104	Dysmorphism-pectus carinatum-joint laxity syndrome
  2107	Hall-Riggs syndrome
  2126	Solitary fibrous tumor
  2133	Hemoglobin E disease
  2166	Holoprosencephaly-postaxial polydactyly syndrome
  2170	Methylcobalamin deficiency type cblG
  2182	Hydrocephalus with stenosis of the aqueduct of Sylvius
  2189	Hydrolethalus
  2194	Anti-HLA hyperimmunization
  2199	Epidermolytic palmoplantar keratoderma
  2202	Palmoplantar keratoderma-deafness syndrome
  2206	Ankylosing vertebral hyperostosis with tylosis
  2209	Maternal phenylketonuria
  2213	Hypertelorism-microtia-facial clefting syndrome
  2271	Congenital ichthyosis-microcephalus-tetraplegia syndrome
  2316	Johnson neuroectodermal syndrome
  2325	Epidermolysis bullosa simplex with anodontia/hypodontia
  2328	Kapur-Toriello syndrome
  2332	KBG syndrome
  2339	Keratosis follicularis-dwarfism-cerebral atrophy syndrome
  2364	Glycogen storage disease due to lactate dehydrogenase deficiency
  2375	Laryngeal abductor paralysis-intellectual disability syndrome
  2378	Laurin-Sandrow syndrome
  2388	Choreoacanthocytosis
  2400	Peripheral motor neuropathy-dysautonomia syndrome
  2406	Locked-in syndrome
  2408	Lowe-Kohn-Cohen syndrome
  2410	Hypergonadotropic hypogonadism-cataract syndrome
  2437	Czeizel-Losonci syndrome
  2456	Familial supernumerary nipples
  2460	Van den Ende-Gupta syndrome
  2463	Marfanoid habitus-autosomal recessive intellectual disability syndrome
  2479	Megalocornea-intellectual disability syndrome
  2508	Corpus callosum agenesis-abnormal genitalia syndrome
  2510	Micro syndrome
  2511	Microbrachycephaly-ptosis-cleft lip syndrome
  2557	Mietens syndrome
  2561	Pyramidal molars-abnormal upper lip syndrome
  2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
  2579	Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
  2588	Myhre syndrome
  2631	Mesomelic dwarfism-cleft palate-camptodactyly syndrome
  2636	Microcephalic osteodysplastic primordial dwarfism types I and III
  2668	Nephropathy-deafness-hyperparathyroidism syndrome
  2690	Neutropenia-monocytopenia-deafness syndrome
  2728	Blepharophimosis-intellectual disability syndrome, Ohdo type
  2760	OSLAM syndrome
  2762	Progressive osseous heteroplasia
  2792	Otofaciocervical syndrome
  2839	Pelvis-shoulder dysplasia
  2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
  2869	Peutz-Jeghers syndrome
  2874	Phakomatosis pigmentokeratotica
  2884	Piebaldism
  2885	Piebald trait-neurologic defects syndrome
  2897	Pityriasis rubra pilaris
  2900	Leri pleonosteosis
  2929	Juvenile polyposis syndrome
  2932	Chronic inflammatory demyelinating polyneuropathy
  2942	Postpoliomyelitis syndrome
  2963	Progeroid syndrome, Petty type
  2980	Acrootoocular syndrome
  2987	Antecubital pterygium syndrome
  2995	Baraitser-Winter cerebrofrontofacial syndrome
  3002	Immune thrombocytopenia
  3016	Absent radius-anogenital anomalies syndrome
  3034	Delayed membranous cranial ossification
  3055	X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
  3068	Intellectual disability-myopathy-short stature-endocrine defect syndrome
  3071	Costello syndrome
  3082	Intellectual disability-polydactyly-uncombable hair syndrome
  3098	Rhizomelic syndrome, Urbach type
  3109	Mayer-Rokitansky-Küster-Hauser syndrome
  3145	Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome
  3177	Spinocerebellar degeneration-corneal dystrophy syndrome
  3186	Holoprosencephaly-radial heart renal anomalies syndrome
  3198	Stiff person spectrum disorder
  3214	Deaf blind hypopigmentation syndrome, Yemenite type
  3224	Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
  3225	Hearing loss-familial salivary gland insensitivity to aldosterone syndrome
  3236	Conductive deafness-ptosis-skeletal anomalies syndrome
  3250	Proximal symphalangism
  3258	Cenani-Lenz syndrome
  3260	Idiopathic hypereosinophilic syndrome
  3287	Takayasu arteritis
  3303	Tetralogy of Fallot
  3305	Tetraploidy
  3314	Thiemann disease, familial form
  3319	Congenital amegakaryocytic thrombocytopenia
  3343	Toxocariasis
  3350	Tremor-nystagmus-duodenal ulcer syndrome
  3361	Trichodysplasia-xeroderma syndrome
  3376	Triploidy
  3377	Trismus-pseudocamptodactyly syndrome
  3379	Distal duplication 17q
  3380	Trisomy 18
  3387	Isolated anterior cervical hypertrichosis
  3408	Upington disease
  3412	VACTERL with hydrocephalus
  3424	Velo-facial-skeletal syndrome
  3427	Double outlet left ventricle
  3440	Waardenburg syndrome
  3449	Weill-Marchesani syndrome
  3452	Whipple disease
  3459	Wilson-Turner syndrome
  3464	Woodhouse-Sakati syndrome
  29072	Hereditary pheochromocytoma-paraganglioma
  30925	Hereditary central diabetes insipidus
  31824	Colchicine poisoning
  31827	Paraquat poisoning
  33001	Lymphedema-distichiasis syndrome
  33208	Idiopathic hypersomnia
  33475	Meningococcal meningitis
  33577	Nodular non-suppurative panniculitis
  35062	Severe disseminated cytomegalovirus infection in immunocompetent patients
  35889	Acute opioid intoxication
  36237	Bullous impetigo
  36273	Gastric linitis plastica
  36383	COL4A1-related familial vascular leukoencephalopathy
  37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  37202	Interstitial cystitis
  37553	Andersen-Tawil syndrome
  37612	Episodic ataxia type 1
  42062	Iminoglycinuria
  43119	Acute poisoning by drugs with membrane-stabilizing effect
  45358	Congenital fibrosis of extraocular muscles
  46724	Cerebral arteriovenous malformation
  47044	Hereditary papillary renal cell carcinoma
  48372	Nodular regenerative hyperplasia of the liver
  48652	Monosomy 22q13.3
  50814	Craniolenticulosutural dysplasia
  50817	Duane anomaly-myopathy-scoliosis syndrome
  50943	Keratolytic winter erythema
  51636	WHIM syndrome
  52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  52994	Orbital leiomyoma
  53351	X-linked dystonia-parkinsonism
  53372	Hereditary geniospasm
  53540	Goldmann-Favre syndrome
  54272	Hepatocellular adenoma
  54370	Primary membranoproliferative glomerulonephritis
  57196	Medial condensing osteitis of the clavicle
  59315	Rhombencephalosynapsis
  64280	Childhood absence epilepsy
  64748	Dejerine-Sottas syndrome
  65287	Beta-ureidopropionase deficiency
  66518	Short fifth metacarpals-insulin resistance syndrome
  66661	Mast cell sarcoma
  67036	Autosomal dominant optic atrophy and cataract
  67044	Thrombocytopenia with congenital dyserythropoietic anemia
  67045	X-linked intellectual disability with isolated growth hormone deficiency
  69082	Odonto-tricho-ungual-digito-palmar syndrome
  69737	Bosley-Salih-Alorainy syndrome
  69739	Athabaskan brainstem dysgenesis syndrome
  70587	Infant acute respiratory distress syndrome
  73256	Central neurocytoma
  75382	Oguchi disease
  75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
  75497	X-linked Ehlers-Danlos syndrome
  75564	Acquired idiopathic sideroblastic anemia
  75858	MORM syndrome
  79085	AKT2-related familial partial lipodystrophy
  79098	Sympathetic ophthalmia
  79100	Atrophoderma vermiculata
  79139	Japanese encephalitis
  79150	Linear and whorled nevoid hypermelanosis
  79234	Crigler-Najjar syndrome type 1
  79276	Acute intermittent porphyria
  79281	Alpha-N-acetylgalactosaminidase deficiency type 3
  79330	MOGS-CDG
  79345	Brachytelephalangic chondrodysplasia punctata
  79346	Chondrodysplasia punctata, tibial-metacarpal type
  79347	Chondrodysplasia punctata, Toriello type
  79401	PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement
  79410	Localized dystrophic epidermolysis bullosa, pretibial form
  79430	Hermansky-Pudlak syndrome
  79468	Acanthokeratolytic verrucous nevus
  79479	Pemphigus vegetans
  79480	Pemphigus erythematosus
  79490	Microcystic lymphatic malformation
  79500	DOORS syndrome
  79503	Ichthyosis hystrix of Curth-Macklin
  79507	Hypotonia-failure to thrive-microcephaly syndrome
  83311	Rocky Mountain spotted fever
  83312	Rickettsialpox
  83465	Narcolepsy type 2
  83617	Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
  84064	Syndromic diarrhea
  84093	Hereditary thermosensitive neuropathy
  85110	Familial encephalopathy with neuroserpin inclusion bodies
  85128	Bothnia retinal dystrophy
  85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
  85170	Mesomelic dysplasia, Savarirayan type
  85182	Diaphyseal medullary stenosis-bone malignancy syndrome
  85285	X-linked intellectual disability, Schimke type
  85288	X-linked intellectual disability, Stocco Dos Santos type
  85290	X-linked intellectual disability, Wilson type
  85293	X-linked intellectual disability, Cabezas type
  85297	X-linked spinocerebellar ataxia type 3
  85324	X-linked intellectual disability, Shrimpton type
  85435	Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis
  86861	Non-amyloid monoclonal immunoglobulin deposition disease
  86869	Lymphomatoid granulomatosis
  86882	Hepatosplenic T-cell lymphoma
  86900	Interdigitating dendritic cell sarcoma
  86911	Epilepsy with myoclonic absences
  86923	Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
  88660	Hypertension due to gain-of-function mutations in the mineralocorticoid receptor
  89937	Autosomal dominant hypophosphatemic rickets
  90000	Erythema elevatum diutinum
  90033	Autoimmune hemolytic anemia, warm type
  90039	Hemoglobin D disease
  90052	Recurrent hepatitis C virus induced liver disease in liver transplant recipients
  90159	Panniculitis-induced localized lipodystrophy
  90280	Chilblain lupus
  90322	Cockayne syndrome type 2
  90368	Hypotrichosis simplex of the scalp
  90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
  90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
  91349	Non-functioning pituitary adenoma
  91387	Familial thoracic aortic aneurysm and aortic dissection
  91413	Congenital Horner syndrome
  93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease
  93126	Pauci-immune glomerulonephritis
  93177	Congenital bilateral megacalycosis
  93308	Multiple epiphyseal dysplasia type 1
  93311	Multiple epiphyseal dysplasia type 5
  93321	Radial hemimelia
  93324	Autosomal recessive Kenny-Caffey syndrome
  93328	Autosomal dominant omodysplasia
  93335	Postaxial polydactyly type B
  93357	SPONASTRIME dysplasia
  93360	Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
  93473	Hurler syndrome
  93554	Mixed cryoglobulinemia type II
  93569	Polymyalgia rheumatica
  93581	Atypical hemolytic uremic syndrome with anti-factor H antibodies
  93599	Primary hyperoxaluria type 2
  93950	X-linked intellectual disability, Sutherland-Haan type
  94065	15q24 microdeletion syndrome
  95427	Secondary short bowel syndrome
  95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome
  95455	Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum
  95459	Congenital tricuspid stenosis
  95712	Thyroid ectopia
  95719	Thyroid hemiagenesis
  95720	Thyroid hypoplasia
  96068	Mosaic trisomy 22
  96069	Distal duplication 1p36
  96106	Distal duplication 16q
  96109	Distal duplication 22q
  96125	Distal deletion 6p
  96172	Ring chromosome 3 syndrome
  96175	Ring chromosome 11 syndrome
  96176	Ring chromosome 13 syndrome
  96266	Leydig cell hypoplasia due to partial LH resistance
  97279	Insulinoma
  97353	Dementia pugilistica
  97366	Multiloculated renal cyst
  97369	Renal tubular dysgenesis of genetic origin
  98434	Hereditary combined deficiency of vitamin K-dependent clotting factors
  98756	Spinocerebellar ataxia type 2
  98767	Spinocerebellar ataxia type 11
  98771	Spinocerebellar ataxia type 18
  98773	Spinocerebellar ataxia type 21
  98805	Primary dystonia, DYT4 type
  98806	Primary dystonia, DYT6 type
  98820	Familial focal epilepsy with variable foci
  98824	Atypical chronic myeloid leukemia
  98826	Refractory anemia
  98839	Intravascular large B-cell lymphoma
  98848	Indolent systemic mastocytosis
  98849	Systemic mastocytosis with associated hematologic neoplasm
  98851	Mast cell leukemia
  98885	Bleeding diathesis due to glycoprotein VI deficiency
  98908	Neutral lipid storage myopathy
  98913	Postsynaptic congenital myasthenic syndromes
  98914	Presynaptic congenital myasthenic syndromes
  98916	Acute inflammatory demyelinating polyradiculoneuropathy
  98933	Multiple system atrophy, parkinsonian type
  98947	Coloboma of optic disc
  98957	Gelatinous drop-like corneal dystrophy
  98961	Reis-Bücklers corneal dystrophy
  98963	Granular corneal dystrophy type II
  98978	Axenfeld anomaly
  99000	Adult-onset foveomacular vitelliform dystrophy
  99013	Spastic paraplegia type 7
  99015	Spastic paraplegia type 2
  99050	Abnormal origin of right or left pulmonary artery from the aorta
  99052	Discrete fibromuscular subaortic stenosis
  99061	Accessory mitral valve tissue
  99077	Kommerell diverticulum
  99084	Peripheral pulmonary stenosis
  99104	Atrial septal defect, coronary sinus type
  99129	Congenital complete agenesis of pericardium
  99141	Lymphedema-posterior choanal atresia syndrome
  99147	Acquired von Willebrand syndrome
  99171	Isolated congenital ectropion
  99429	Complete androgen insensitivity syndrome
  99718	Leber plus disease
  99734	Myotonia fluctuans
  99750	Atypical progressive supranuclear palsy syndrome
  99812	LIG4 syndrome
  99849	Glycogen storage disease due to muscle beta-enolase deficiency
  99889	Cushing syndrome due to ectopic ACTH secretion
  99908	Pigeon-breeder lung disease
  99917	Theca steroid-producing cell malignant tumor of ovary, not further specified
  99930	Secondary pulmonary hemosiderosis
  99936	Autosomal dominant Charcot-Marie-Tooth disease type 2B
  99938	Autosomal dominant Charcot-Marie-Tooth disease type 2D
  99990	Brill-Zinsser disease
  100015	Lissencephaly with cerebellar hypoplasia type E
  100033	Hypomaturation amelogenesis imperfecta
  100035	Solitary necrotic nodule of the liver
  100050	Hereditary angioedema type 1
  100073	Neurogenic thoracic outlet syndrome
  100973	FRAXE intellectual disability
  100991	Autosomal dominant spastic paraplegia type 10
  100998	Autosomal dominant spastic paraplegia type 17
  101010	Autosomal spastic paraplegia type 30
  101016	Romano-Ward syndrome
  101082	Charcot-Marie-Tooth disease type 1B
  101084	Charcot-Marie-Tooth disease type 1D
  101089	Hyper-IgM syndrome type 2
  101091	Hyper-IgM syndrome type 4
  101112	Spinocerebellar ataxia type 26
  103907	Chronic diarrhea due to glucoamylase deficiency
  104075	Adenocarcinoma of the small intestine
  137596	Neurotrophic keratopathy
  137617	Nephrogenic systemic fibrosis
  137678	Spondyloepiphyseal dysplasia with metatarsal shortening
  139411	Carney triad
  139417	Acute transverse myelitis
  139426	Perioral myoclonia with absences
  139557	X-linked distal spinal muscular atrophy type 3
  139589	Distal hereditary motor neuropathy type 7
  141074	External auditory canal aplasia/hypoplasia
  141199	Cerebrofacial arteriovenous metameric syndrome type 3
  141242	Paramedian nasal cleft
  141261	Tessier number 5 facial cleft
  157719	Juvenile or adult CACH syndrome
  157791	Epithelioid hemangioendothelioma
  157801	Mesoaxial synostotic syndactyly with phalangeal reduction
  157820	Cold-induced sweating syndrome
  157835	Paroxysmal hemicrania
  157850	Pantothenate kinase-associated neurodegeneration
  157941	Huntington disease-like 1
  157991	Generalized eruptive histiocytosis
  158025	Hereditary progressive mucinous histiocytosis
  158769	Plaque-form urticaria pigmentosa
  158772	Nodular urticaria pigmentosa
  163708	Cryptogenic late-onset epileptic spasms
  163717	Benign familial mesial temporal lobe epilepsy
  163727	Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
  163937	X-linked intellectual disability, Najm type
  163956	X-linked intellectual disability, Nascimento type
  163976	X-linked intellectual disability, Van Esch type
  165958	Cavitary myiasis
  166035	Brachydactyly-short stature-retinitis pigmentosa syndrome
  166090	Von Willebrand disease type 2M
  166299	Benign partial epilepsy of infancy with complex partial seizures
  166421	Orgasm-induced seizures
  166424	Thinking seizures
  168549	Axial spondylometaphyseal dysplasia
  168558	46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
  168583	Hereditary North American Indian childhood cirrhosis
  168624	Familial scaphocephaly syndrome, McGillivray type
  169082	Combined immunodeficiency due to CD3gamma deficiency
  169147	Immunodeficiency due to a classical component pathway complement deficiency
  169150	Immunodeficiency due to a late component of complement deficiency
  171622	Autosomal recessive spastic paraplegia type 32
  171629	Autosomal recessive spastic paraplegia type 35
  171684	Idiopathic bilateral vestibulopathy
  171700	Diffuse panbronchiolitis
  171848	Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
  171876	Generalized pseudohypoaldosteronism type 1
  178320	Acute lung injury
  178377	Osteosclerosis-developmental delay-craniosynostosis syndrome
  178389	Osteopetrosis-hypogammaglobulinemia syndrome
  178464	Hereditary myopathy with early respiratory failure
  178481	Intestinal botulism
  180079	Pseudounicornuate uterus
  180086	Didelphys uterus
  180247	Vaginal carcinoma
  183707	Neutrophil immunodeficiency syndrome
  199267	Infantile digital fibromatosis
  199296	Congenital isolated ACTH deficiency
  199315	Familial clubfoot with or without associated lower limb anomalies
  199332	Endocrine-cerebro-osteodysplasia syndrome
  199627	Atypical autism
  200418	Immunodeficiency with factor I anomaly
  206470	Cystadenoma of childhood
  206492	Vulvovaginal rhabdomyosarcoma
  206564	POMGNT1-related limb-girdle muscular dystrophy R15
  206580	Autosomal recessive lower motor neuron disease with childhood onset
  206991	Viral myositis
  207000	Fungal myositis
  209335	Autosomal dominant adult-onset proximal spinal muscular atrophy
  209956	Idiopathic uveal effusion syndrome
  210128	Urocanic aciduria
  210136	Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome
  210571	Dystonia 16
  210576	Congenital temporomandibular joint ankylosis
  213751	Malignant germ cell tumor of the corpus uteri
  213833	Glassy cell carcinoma of the cervix uteri
  213837	Malignant germ cell tumor of the cervix uteri
  216694	Congenitally corrected transposition of the great arteries
  216796	Osteogenesis imperfecta type 1
  217012	Spinocerebellar ataxia type 31
  217563	Neonatal acute respiratory distress due to SP-B deficiency
  220465	Laron syndrome with immunodeficiency
  220497	Joubert syndrome with renal defect
  221078	Combined hyperactive dysfunction syndrome of the cranial nerves
  221139	Combined immunodeficiency with facio-oculo-skeletal anomalies
  221145	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
  228264	Papular elastorrhexis
  228285	Acquired cutis laxa
  228305	Carnitine palmitoyl transferase II deficiency, severe infantile form
  228346	CLN3 disease
  228360	CLN5 disease
  231031	Erythema palmare hereditarium
  231111	Drug-induced lupus erythematosus
  231144	Silver-Russell syndrome due to 11p15 microduplication
  231178	Usher syndrome type 2
  231237	Delta-beta-thalassemia
  231242	Hemoglobin C-beta-thalassemia syndrome
  231393	Beta-thalassemia-X-linked thrombocytopenia syndrome
  231401	Alpha-thalassemia-myelodysplastic syndrome
  231426	Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome
  231720	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
  238446	15q11q13 microduplication syndrome
  247511	Autosomal dominant secondary polycythemia
  247573	Late-onset citrullinemia type I
  247698	Multiple endocrine neoplasia type 2A
  247775	Mayer-Rokitansky-Küster-Hauser syndrome type 1
  247868	NLRP12-associated hereditary periodic fever syndrome
  248340	Isolated delta-storage pool disease
  250932	Autosomal dominant optic atrophy and peripheral neuropathy
  250994	1q21.1 microduplication syndrome
  251043	Ring chromosome 5 syndrome
  251282	Autosomal dominant spastic ataxia type 1
  251328	Unclassified vasculitis
  251359	Sickle cell-beta-thalassemia disease syndrome
  251576	Gliosarcoma
  251656	Oligoastrocytoma
  251663	Anaplastic oligoastrocytoma
  251949	Ganglioglioma
  251962	Papillary glioneuronal tumor
  252128	Malignant peripheral nerve sheath tumor with perineurial differentiation
  252212	Malignant triton tumor
  254361	Plectin-related limb-girdle muscular dystrophy R17
  254395	Actinic lichen planus
  254463	Lichen planus pigmentosus
  254851	Mitochondrial DNA-related dystonia
  254857	Lethal infantile mitochondrial myopathy
  254913	Isolated ATP synthase deficiency
  260305	Autosomal recessive sideroblastic anemia
  261204	16p11.2p12.2 microduplication syndrome
  261295	20p12.3 microdeletion syndrome
  261318	Trisomy 20p
  261330	Distal 22q11.2 microdeletion syndrome
  261524	Paternal uniparental disomy of chromosome X
  263317	Thymoma type B
  263508	COG1-CDG
  263662	Familial multiple meningioma
  268316	Complication in hemodialysis
  268366	Closed iniencephaly
  268920	Isolated megalencephaly
  268987	Isolated focal cortical dysplasia type Ic
  268994	Isolated focal cortical dysplasia type II
  275555	Preeclampsia
  276241	Machado-Joseph disease type 2
  279922	Infectious anterior uveitis
  280200	Microform holoprosencephaly
  280827	Congenital pulmonary airway malformation type 0
  280840	Congenital pulmonary airway malformation type 2
  280854	Congenital pulmonary airway malformation type 4
  284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
  284227	TEMPI syndrome
  284232	Autosomal dominant Charcot-Marie-Tooth disease type 2O
  284247	Familial retinal arterial macroaneurysm
  284343	DICER1 tumor-predisposition syndrome
  284435	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
  284984	Aneurysm-osteoarthritis syndrome
  289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
  289380	Myosclerosis
  289494	4H leukodystrophy
  289586	Exfoliative ichthyosis
  289846	Glutathione synthetase deficiency with 5-oxoprolinuria
  289857	Neonatal glycine encephalopathy
  293381	Epithelial recurrent erosion dystrophy
  293603	Congenital hereditary endothelial dystrophy type II
  293987	Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
  294973	Humeral agenesis/hypoplasia
  295026	Congenital pseudoarthrosis of the ulna
  295239	Macrodactyly of fingers, unilateral
  300284	Connective tissue disorder due to lysyl hydroxylase-3 deficiency
  300385	Pituitary carcinoma
  300878	Hairy cell leukemia variant
  300895	ALK-positive anaplastic large cell lymphoma
  300903	ALK-negative anaplastic large cell lymphoma
  306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
  306547	Porencephaly-microcephaly-bilateral congenital cataract syndrome
  306644	Complication after organ transplantation
  306674	Kufor-Rakeb syndrome
  308013	Focal acral hyperkeratosis
  308380	Methylcobalamin deficiency type cblDv1
  308425	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
  308473	Erythrocyte galactose epimerase deficiency
  308670	Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
  309324	Free sialic acid storage disease, infantile form
  309789	Rhizomelic chondrodysplasia punctata type 1
  313800	Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome
  313838	Coats plus syndrome
  313947	2q23.1 microduplication syndrome
  314389	Xq12-q13.3 duplication syndrome
  314459	Pseudo-Meigs syndrome
  314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
  314667	TMEM165-CDG
  314701	Primary systemic amyloidosis
  314950	Primary hypereosinophilic syndrome
  315306	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
  319247	Hantavirus pulmonary syndrome
  319251	Rift valley fever
  319322	Mucinous tubular and spindle cell renal carcinoma
  319465	Inherited acute myeloid leukemia
  319569	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
  320370	Autosomal recessive spastic paraplegia type 43
  324381	Hereditary inclusion body myopathy type 4
  324530	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
  324535	Combined oxidative phosphorylation defect type 11
  324540	Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
  324569	Pontocerebellar hypoplasia type 8
  324575	Hyperinsulinism due to HNF1A deficiency
  324611	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
  324713	ABeta amyloidosis, Italian type
  329191	Tall stature-long halluces-multiple extra-epiphyses syndrome
  329211	Autosomal dominant neovascular inflammatory vitreoretinopathy
  329228	Microcephalic primordial dwarfism due to ZNF335 deficiency
  329284	Beta-propeller protein-associated neurodegeneration
  329319	Thrombocythemia with distal limb defects
  329478	Adult-onset distal myopathy due to VCP mutation
  329481	Lipoprotein glomerulopathy
  329967	Intermittent hydrarthrosis
  330012	High altitude pulmonary edema
  330029	Hypotrichosis-deafness syndrome
  331176	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  352333	Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
  352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
  352737	Temperature-sensitive oculocutaneous albinism type 1
  353298	Roifman syndrome
  356996	ANK3-related intellectual disability-sleep disturbance syndrome
  357027	Hereditary retinoblastoma
  363400	Severe neurodegenerative syndrome with lipodystrophy
  363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
  363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
  363659	20q11.2 microduplication syndrome
  363694	Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
  363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
  369847	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
  369881	2p21 microdeletion syndrome without cystinuria
  369920	Pontocerebellar hypoplasia type 9
  369979	Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome
  370010	Intellectual disability-facial dysmorphism-hand anomalies syndrome
  370076	Fetal carbamazepine syndrome
  370131	White platelet syndrome
  371364	Hypotonia-speech impairment-severe cognitive delay syndrome
  391351	SURF1-related Charcot-Marie-Tooth disease type 4
  391665	Homozygous familial hypercholesterolemia
  397941	MAN1B1-CDG
  397951	Microcephaly-thin corpus callosum-intellectual disability syndrome
  397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
  398156	Oculoauriculofrontonasal syndrome
  401800	Autosomal recessive spastic paraplegia type 60
  401830	Autosomal recessive spastic paraplegia type 69
  401973	MEND syndrome
  402017	Acute myeloid leukemia with t(9;11)(p22;q23)
  404511	Clear cell papillary renal cell carcinoma
  411543	Severe phosphoribosylpyrophosphate synthetase superactivity
  411712	Maternal riboflavin deficiency
  412022	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
  420485	Cranio-cervical dystonia with laryngeal and upper-limb involvement
  420492	Adult-onset cervical dystonia, DYT23 type
  420584	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
  420741	RIDDLE syndrome
  423275	Spinocerebellar ataxia type 40
  423470	Mucolipidosis type III gamma
  431149	Combined immunodeficiency due to OX40 deficiency
  435329	Familial ossifying fibroma
  435438	Progressive myoclonic epilepsy type 7
  435930	Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
  435934	COG2-CDG
  436003	Contractures-developmental delay-Pierre Robin syndrome
  436151	Intellectual disability-expressive aphasia-facial dysmorphism syndrome
  438075	Ketoacidosis due to monocarboxylate transporter-1 deficiency
  439175	Pediatric arterial ischemic stroke
  439202	Non-recovering obstetric brachial plexus lesion
  439729	Cutaneous polyarteritis nodosa
  439755	Single-organ polyarteritis nodosa
  439897	Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
  442835	Non-specific early-onset epileptic encephalopathy
  443227	Paratyphoid fever
  444069	Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
  444099	Autosomal dominant spastic paraplegia type 73
  444490	Familial chylomicronemia syndrome
  447954	Combined oxidative phosphorylation defect type 25
  447980	19p13.3 microduplication syndrome
  451612	Familial congenital nasolacrimal duct obstruction
  453533	Polyendocrine-polyneuropathy syndrome
  454745	Kuru
  538	Lymphangioleiomyomatosis
  633	Laron syndrome
  681	Hypokalemic periodic paralysis
  615938	Spastic paraparesis-cataracts-speech delay syndrome
  647916	Conjoined twins
  957	Acropectorovertebral dysplasia
  2058	Fryns-Smeets-Thiry syndrome
  2665	Congenital mesoblastic nephroma
  49566	Acquired purpura fulminans
  168615	Hereditary persistence of alpha-fetoprotein
  178355	Smith-McCort dysplasia
  309025	Mevalonate kinase deficiency
  329918	C3 glomerulopathy
  370088	Acute infantile liver failure-multisystemic involvement syndrome
  370943	Autism spectrum disorder-epilepsy-arthrogryposis syndrome
  401862	Lipoyl transferase 1 deficiency
  480701	Facial diplegia with paresthesias
  488650	Distal myopathy, Tateyama type
  530849	Familial apolipoprotein A5 deficiency
  537072	PLG-related hereditary angioedema with normal C1Inh
  555905	IgA pemphigus
  227	Diphallia
  684	Paramyotonia congenita of Von Eulenburg
  645626	Adermatopathic dermatomyositis
  2983	Difference of sex development-intellectual disability syndrome
  3189	Congenital pulmonary valvar stenosis
  3363	Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
  93616	Hemoglobin H disease
  94068	Spondyloepiphyseal dysplasia congenita
  97363	Unilateral multicystic dysplastic kidney
  98995	Early-onset zonular cataract
  162526	Isolated congenital auditory ossicle malformation
  269203	Isolated cerebellar vermis agenesis
  276148	Benign epithelial tumor of salivary glands
  284400	Small cell carcinoma of the bladder
  309796	Rhizomelic chondrodysplasia punctata type 2
  439224	ALECT2 amyloidosis
  451607	Cutaneous pseudolymphoma
  673	Malaria
  1501	Adrenocortical carcinoma
  1910	Fetal iodine syndrome
  2703	Port-wine nevi-mega cisterna magna-hydrocephalus syndrome
  99901	Acyl-CoA dehydrogenase 9 deficiency
  99976	Adenocarcinoma of the esophagus
  141152	Isolated congenital hypoglossia/aglossia
  209932	Cone dystrophy with supernormal rod response
  210122	Congenital alveolar capillary dysplasia
  300888	Diffuse large B-cell lymphoma with chronic inflammation
  324632	Hendra virus infection
  420402	Semicircular canal dehiscence syndrome
  458798	Spinocerebellar ataxia type 41
  505652	CDKL5-deficiency disorder
  2151	Hirschsprung disease-ganglioneuroblastoma syndrome
  2357	Bronchogenic cyst
  54247	Posterior cortical atrophy
  98807	Primary dystonia, DYT13 type
  139552	Distal hereditary motor neuropathy, Jerash type
  158766	Typical urticaria pigmentosa
  171866	Spondyloepimetaphyseal dysplasia, aggrecan type
  276145	Malignant epithelial tumor of salivary glands
  329984	Goblet cell carcinoma
  331226	Susceptibility to infection due to TYK2 deficiency
  411501	Williams-Campbell syndrome
  599480	Acquired hemophilia A
  645334	Retained medullary cord
  1008	Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
  73224	Kidney tubulopathy-dilated cardiomyopathy syndrome
  85284	BRESEK syndrome
  93397	Brachydactyly type A7
  95159	Hepatoerythropoietic porphyria
  98844	Classic Hodgkin lymphoma, mixed cellularity type
  206599	Isolated asymptomatic elevation of creatine phosphokinase
  397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
  456333	Hereditary neuroendocrine tumor of small intestine
  172	Progressive familial intrahepatic cholestasis
  230	Dopamine beta-hydroxylase deficiency
  573	Monilethrix
  645325	Isolated filum lipoma
  645749	Congenital esophageal stenosis
  2022	Endocardial fibroelastosis
  2353	Schilbach-Rott syndrome
  3472	Yunis-Varon syndrome
  75565	Tropical endomyocardial fibrosis
  79143	Isolated congenital anonychia
  79264	Juvenile neuronal ceroid lipofuscinosis
  79402	Intermediate generalized junctional epidermolysis bullosa
  83452	Complex regional pain syndrome
  83467	Morvan syndrome
  93941	Laryngotracheoesophageal cleft type 4
  141174	Mandibular arteriovenous malformation
  231531	Hermansky-Pudlak syndrome due to BLOC-1 deficiency
  250972	Polymicrogyria with optic nerve hypoplasia
  251618	Subependymal giant cell astrocytoma
  114	Auriculoosteodysplasia
  468699	SLC39A8-CDG
  198	Occipital horn syndrome
  732	Polymyositis
  1252	Blepharonasofacial malformation syndrome
  1681	Diprosopus
  1923	Methimazole embryofetopathy
  2007	Alar cartilages hypoplasia-coloboma-telecanthus syndrome
  2777	Osteomesopyknosis
  51608	Generalized arterial calcification of infancy
  93334	Postaxial polydactyly type A
  97234	Glycogen storage disease due to phosphoglycerate mutase deficiency
  99950	Charcot-Marie-Tooth disease type 4D
  166081	Von Willebrand disease type 2
  168829	Primary peritoneal carcinoma
  319504	Combined oxidative phosphorylation defect type 8
  329802	5p13 microduplication syndrome
  397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy
  747	Autoimmune pulmonary alveolar proteinosis
  565899	POMGNT2-related limb-girdle muscular dystrophy R24
  1928	Congenital lobar emphysema
  3351	Trichodental syndrome
  88661	Amelogenesis imperfecta
  96185	Maternal uniparental disomy of chromosome 16
  98755	Spinocerebellar ataxia type 1
  103918	Tropical pancreatitis
  137914	Choanal atresia
  171430	Severe congenital nemaline myopathy
  206572	Overlap myositis
  294981	Congenital absence of both lower leg and foot
  295000	Constriction rings syndrome
  295219	Radio-ulnar synostosis, bilateral
  401869	Multiple mitochondrial dysfunctions syndrome type 1