| Package | hl7.eu.terminology.ehdsi |
| Type | ValueSet |
| Id | Id |
| FHIR Version | R4 |
| Source | http://hl7europe.org/fhir/terminology/ehdsi/https://build.fhir.org/ig/hl7-eu/EHDSI-Terminology-package/ValueSet-eHDSIRareDisease.html |
| Url | http://terminology.ehdsi.eu/ValueSet/eHDSIRareDisease |
| Version | 0.1.0 |
| Status | draft |
| Date | 2024-12-23T16:41:37+00:00 |
| Name | EHDSIRareDisease |
| Title | eHDSI Rare Disease |
| Experimental | False |
| Realm | eu |
| Authority | hl7 |
| Description | The Value Set is used to describe the problems and medication reasons. |
| ValueSet | |
http://hl7.eu/fhir/ig/xpandh/ps/ValueSet/eHDSICondition  | Conditions |
| http://hl7.eu/fhir/ig/xpandh/ps/ValueSet/eHDSIProblemCode | Problems (including unknown conditions) |
No resources found
FHIR{
"resourceType" : "ValueSet",
"id" : "eHDSIRareDisease",
"url" : "http://terminology.ehdsi.eu/ValueSet/eHDSIRareDisease",
"identifier" : [
{
"system" : "urn:ietf:rfc:3986",
"value" : "urn:oid:1.3.6.1.4.1.12559.11.10.1.3.1.42.63"
}
],
"version" : "0.1.0",
"name" : "EHDSIRareDisease",
"title" : "eHDSI Rare Disease",
"status" : "draft",
"experimental" : false,
"date" : "2024-12-23T16:41:37+00:00",
"publisher" : "HL7 Europe",
"contact" : [
{
"name" : "HL7 Europe",
"telecom" : [
{
"system" : "url",
"value" : "http://hl7europe.org"
}
]
}
],
"description" : "The Value Set is used to describe the problems and medication reasons.",
"compose" : {
"include" : [
{
"system" : "https://www.orpha.net",
"concept" : [
{
"code" : "18",
"display" : "Distal renal tubular acidosis"
},
{
"code" : "26",
"display" : "Methylmalonic acidemia with homocystinuria"
},
{
"code" : "35",
"display" : "Propionic acidemia"
},
{
"code" : "36",
"display" : "Acrocallosal syndrome"
},
{
"code" : "49",
"display" : "Penile agenesis"
},
{
"code" : "76",
"display" : "Strongyloidiasis"
},
{
"code" : "93",
"display" : "Aspartylglucosaminuria"
},
{
"code" : "96",
"display" : "Ataxia with vitamin E deficiency"
},
{
"code" : "123",
"display" : "Björnstad syndrome"
},
{
"code" : "456369",
"display" : "Polyglucosan body myopathy type 2"
},
{
"code" : "457083",
"display" : "Isolated splenogonadal fusion"
},
{
"code" : "457223",
"display" : "Syndromic sensorineural deafness due to combined oxidative phosphorylation defect"
},
{
"code" : "457265",
"display" : "Progressive myoclonic epilepsy type 9"
},
{
"code" : "457485",
"display" : "Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome"
},
{
"code" : "459056",
"display" : "Autosomal recessive spastic paraplegia type 75"
},
{
"code" : "464288",
"display" : "Short stature-brachydactyly-obesity-global developmental delay syndrome"
},
{
"code" : "464318",
"display" : "Verrucous hemangioma"
},
{
"code" : "464359",
"display" : "Benign metanephric tumor"
},
{
"code" : "466650",
"display" : "Exercise-induced malignant hyperthermia"
},
{
"code" : "466688",
"display" : "Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome"
},
{
"code" : "466784",
"display" : "Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect"
},
{
"code" : "468635",
"display" : "Cryptogenic multifocal ulcerous stenosing enteritis"
},
{
"code" : "476093",
"display" : "Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome"
},
{
"code" : "476119",
"display" : "Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome"
},
{
"code" : "477787",
"display" : "Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder"
},
{
"code" : "477993",
"display" : "Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome"
},
{
"code" : "478664",
"display" : "Hereditary sensory and autonomic neuropathy type 8"
},
{
"code" : "480483",
"display" : "Progressive familial intrahepatic cholestasis type 4"
},
{
"code" : "480501",
"display" : "Choledochal cyst"
},
{
"code" : "480512",
"display" : "Idiopathic ductopenia"
},
{
"code" : "480528",
"display" : "Lethal hydranencephaly-diaphragmatic hernia syndrome"
},
{
"code" : "480553",
"display" : "Aneurysmal bone cyst"
},
{
"code" : "480851",
"display" : "Hereditary thrombocytopenia with early-onset myelofibrosis"
},
{
"code" : "485426",
"display" : "Isolated congenital hepatic fibrosis"
},
{
"code" : "487809",
"display" : "Pediatric collagenous gastritis"
},
{
"code" : "488437",
"display" : "SIX2-related frontonasal dysplasia"
},
{
"code" : "488627",
"display" : "Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome"
},
{
"code" : "495844",
"display" : "C11ORF73-related autosomal recessive hypomyelinating leukodystrophy"
},
{
"code" : "495875",
"display" : "Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome"
},
{
"code" : "496641",
"display" : "Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome"
},
{
"code" : "498251",
"display" : "Menstrual cycle-dependent periodic fever"
},
{
"code" : "500163",
"display" : "Witteveen-Kolk syndrome"
},
{
"code" : "506353",
"display" : "Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction"
},
{
"code" : "508476",
"display" : "Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome"
},
{
"code" : "508488",
"display" : "8q24.3 microdeletion syndrome"
},
{
"code" : "508523",
"display" : "Hyperphenylalaninemia due to DNAJC12 deficiency"
},
{
"code" : "519398",
"display" : "Isolated foveal hypoplasia"
},
{
"code" : "521219",
"display" : "Mirizzi syndrome"
},
{
"code" : "525731",
"display" : "Pediatric-onset Graves disease"
},
{
"code" : "528091",
"display" : "Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome"
},
{
"code" : "529468",
"display" : "Monoclonal mast cell activation syndrome"
},
{
"code" : "529831",
"display" : "Letrozole toxicity"
},
{
"code" : "529962",
"display" : "17q24.2 microdeletion syndrome"
},
{
"code" : "529980",
"display" : "Inflammatory bowel disease-recurrent sinopulmonary infections syndrome"
},
{
"code" : "530033",
"display" : "Dermoid or epidermoid cyst of the central nervous system"
},
{
"code" : "530303",
"display" : "Progressive dementia with neuroserpin inclusion bodies"
},
{
"code" : "538574",
"display" : "Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome"
},
{
"code" : "538963",
"display" : "Combined immunodeficiency due to ITK deficiency"
},
{
"code" : "541423",
"display" : "Growth delay-intellectual disability-hepatopathy syndrome"
},
{
"code" : "542585",
"display" : "Auditory neuropathy-optic atrophy syndrome"
},
{
"code" : "544472",
"display" : "Atypical hemolytic uremic syndrome with complement gene abnormality"
},
{
"code" : "544578",
"display" : "Congenital primary megaureter, refluxing and obstructed form"
},
{
"code" : "544602",
"display" : "Congenital myopathy with reduced type 2 muscle fibers"
},
{
"code" : "558411",
"display" : "Idiopathic gastroparesis"
},
{
"code" : "563666",
"display" : "Serous cystadenoma of childhood"
},
{
"code" : "144",
"display" : "Lynch syndrome"
},
{
"code" : "156",
"display" : "Carnitine palmitoyl transferase 1A deficiency"
},
{
"code" : "168",
"display" : "Loose anagen syndrome"
},
{
"code" : "189",
"display" : "Hidrotic ectodermal dysplasia"
},
{
"code" : "193",
"display" : "Cohen syndrome"
},
{
"code" : "199",
"display" : "Cornelia de Lange syndrome"
},
{
"code" : "212",
"display" : "Cystathioninuria"
},
{
"code" : "222",
"display" : "Erosive pustular dermatosis of the scalp"
},
{
"code" : "233",
"display" : "Duane retraction syndrome"
},
{
"code" : "245",
"display" : "Nager syndrome"
},
{
"code" : "246",
"display" : "Postaxial acrofacial dysostosis"
},
{
"code" : "256",
"display" : "Early-onset generalized limb-onset dystonia"
},
{
"code" : "272",
"display" : "Congenital muscular dystrophy, Fukuyama type"
},
{
"code" : "296",
"display" : "Ollier disease"
},
{
"code" : "308",
"display" : "Progressive myoclonic epilepsy type 1"
},
{
"code" : "318",
"display" : "Acute erythroid leukemia"
},
{
"code" : "319",
"display" : "Skeletal Ewing sarcoma"
},
{
"code" : "377",
"display" : "Gorlin syndrome"
},
{
"code" : "382",
"display" : "Guanidinoacetate methyltransferase deficiency"
},
{
"code" : "407",
"display" : "Glycine encephalopathy"
},
{
"code" : "417",
"display" : "Neonatal severe primary hyperparathyroidism"
},
{
"code" : "444",
"display" : "Marie Unna hereditary hypotrichosis"
},
{
"code" : "461",
"display" : "Recessive X-linked ichthyosis"
},
{
"code" : "506",
"display" : "Leigh syndrome"
},
{
"code" : "509",
"display" : "Leptospirosis"
},
{
"code" : "529",
"display" : "Roch-Leri mesosomatous lipomatosis"
},
{
"code" : "530",
"display" : "Lipoid proteinosis"
},
{
"code" : "549",
"display" : "Legionnaires disease"
},
{
"code" : "551",
"display" : "MERRF"
},
{
"code" : "566",
"display" : "Congenital microcoria"
},
{
"code" : "568",
"display" : "Microphthalmia, Lenz type"
},
{
"code" : "616",
"display" : "Medulloblastoma"
},
{
"code" : "622",
"display" : "Homocystinuria without methylmalonic aciduria"
},
{
"code" : "631",
"display" : "Non-acquired isolated growth hormone deficiency"
},
{
"code" : "641",
"display" : "Multifocal motor neuropathy"
},
{
"code" : "656",
"display" : "Genetic steroid-resistant nephrotic syndrome"
},
{
"code" : "668",
"display" : "Osteosarcoma"
},
{
"code" : "675",
"display" : "Annular pancreas"
},
{
"code" : "676",
"display" : "Hereditary chronic pancreatitis"
},
{
"code" : "714",
"display" : "Hemolytic anemia due to diphosphoglycerate mutase deficiency"
},
{
"code" : "723",
"display" : "Pneumocystosis"
},
{
"code" : "746",
"display" : "Mitochondrial trifunctional protein deficiency"
},
{
"code" : "753",
"display" : "46,XY difference of sex development due to 5-alpha-reductase 2 deficiency"
},
{
"code" : "770",
"display" : "Rabies"
},
{
"code" : "565858",
"display" : "Craniosynostosis-microretrognathia-severe intellectual disability syndrome"
},
{
"code" : "566243",
"display" : "Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta"
},
{
"code" : "566862",
"display" : "Left sided atrial isomerism"
},
{
"code" : "567544",
"display" : "Idiopathic non-lupus full-house nephropathy"
},
{
"code" : "570470",
"display" : "Ricin poisoning"
},
{
"code" : "576074",
"display" : "Middle East respiratory syndrome"
},
{
"code" : "576232",
"display" : "Partial atrioventricular septal defect with ventricular hypoplasia"
},
{
"code" : "576379",
"display" : "Iatrogenic Creutzfeldt-Jakob disease"
},
{
"code" : "583607",
"display" : "Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency"
},
{
"code" : "589527",
"display" : "Spinocerebellar ataxia type 45"
},
{
"code" : "589827",
"display" : "Juvenile-onset Steinert myotonic dystrophy"
},
{
"code" : "595105",
"display" : "Timothy syndrome type 2"
},
{
"code" : "597743",
"display" : "SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome"
},
{
"code" : "599490",
"display" : "Acquired factor V deficiency"
},
{
"code" : "600663",
"display" : "NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance"
},
{
"code" : "600668",
"display" : "CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome"
},
{
"code" : "600691",
"display" : "Combined deficiency of factor VII and factor X"
},
{
"code" : "600961",
"display" : "Non-syndromic anorectal malformation with rectourethral fistula"
},
{
"code" : "600966",
"display" : "Non-syndromic anorectal malformation with rectourethral fistula, bulbar type"
},
{
"code" : "600993",
"display" : "Non-syndromic anorectal malformation with vestibular fistula"
},
{
"code" : "600998",
"display" : "Non-syndromic cloacal malformation"
},
{
"code" : "601002",
"display" : "Non-syndromic anorectal malformation without fistula"
},
{
"code" : "601028",
"display" : "Non-syndromic anorectal malformation with rectovaginal fistula"
},
{
"code" : "603694",
"display" : "KLHL7-related Crisponi/cold-induced sweating-like syndrome"
},
{
"code" : "610573",
"display" : "CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome"
},
{
"code" : "615954",
"display" : "Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome"
},
{
"code" : "615970",
"display" : "Chronic intervillositis of unknown etiology"
},
{
"code" : "616874",
"display" : "Rare disorder without a determined diagnosis after full investigation"
},
{
"code" : "617449",
"display" : "Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome"
},
{
"code" : "617910",
"display" : "Conjunctival malignant melanoma"
},
{
"code" : "619941",
"display" : "Immune deficiency due to impaired neutrophil phagocytosis and migration"
},
{
"code" : "620198",
"display" : "Non-syndromic bicoronal and metopic craniosynostosis"
},
{
"code" : "620363",
"display" : "Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome"
},
{
"code" : "622925",
"display" : "X-linked severe syndromic thoracic aortic aneurysm and dissection"
},
{
"code" : "624166",
"display" : "Non-specific autoimmune supratentorial encephalitis with characteristic antibodies"
},
{
"code" : "624190",
"display" : "Paraneoplastic isolated brainstem encephalitis"
},
{
"code" : "624216",
"display" : "Non-specific autoimmune brainstem encephalitis without characteristic antibodies"
},
{
"code" : "624259",
"display" : "Non-specific autoimmune cerebellar ataxia with characteristic antibodies"
},
{
"code" : "631068",
"display" : "Autosomal dominant spastic paraplegia type 80"
},
{
"code" : "631082",
"display" : "Autosomal recessive spastic paraplegia type 85"
},
{
"code" : "631085",
"display" : "Autosomal recessive spastic paraplegia type 86"
},
{
"code" : "631106",
"display" : "Spinocerebellar ataxia type 49"
},
{
"code" : "632603",
"display" : "Mesomelic dysplasia-digital anomalies-intellectual disability syndrome"
},
{
"code" : "633076",
"display" : "Split cord malformation, composite type"
},
{
"code" : "634461",
"display" : "Mosaic neurofibromatosis type 1"
},
{
"code" : "636965",
"display" : "Autosomal dominant myosin storage myopathy"
},
{
"code" : "641368",
"display" : "Autosomal recessive hyper-IgE syndrome"
},
{
"code" : "641396",
"display" : "Central nervous system tuberculosis"
},
{
"code" : "642788",
"display" : "Cushing syndrome due to cortisol-producing adrenocortical adenoma"
},
{
"code" : "643538",
"display" : "Hao-Fountain syndrome due to USP7 mutation"
},
{
"code" : "645288",
"display" : "Terminal extramedullary conus spinal cord lipoma"
},
{
"code" : "645362",
"display" : "Dorsal spinal cord lipoma"
},
{
"code" : "645388",
"display" : "Hemi-myelomeningocele"
},
{
"code" : "645393",
"display" : "Hemi-myeloschisis"
},
{
"code" : "647788",
"display" : "Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome"
},
{
"code" : "648681",
"display" : "Immune-mediated scleritis"
},
{
"code" : "648919",
"display" : "Idiopathic catatonia"
},
{
"code" : "650077",
"display" : "Genetic central precocious puberty in female"
},
{
"code" : "650087",
"display" : "Primary central precocious puberty in male"
},
{
"code" : "650102",
"display" : "Non-genetic central precocious puberty in male"
},
{
"code" : "780",
"display" : "Rhabdomyosarcoma"
},
{
"code" : "793",
"display" : "SAPHO syndrome"
},
{
"code" : "797",
"display" : "Sarcoidosis"
},
{
"code" : "798",
"display" : "Schinzel-Giedion syndrome"
},
{
"code" : "803",
"display" : "Amyotrophic lateral sclerosis"
},
{
"code" : "854",
"display" : "Primitive portal vein thrombosis"
},
{
"code" : "874",
"display" : "Primary adult heart tumor"
},
{
"code" : "889",
"display" : "Cutaneous small vessel vasculitis"
},
{
"code" : "892",
"display" : "Von Hippel-Lindau disease"
},
{
"code" : "903",
"display" : "Von Willebrand disease"
},
{
"code" : "905",
"display" : "Wilson disease"
},
{
"code" : "920",
"display" : "Ablepharon macrostomia syndrome"
},
{
"code" : "939",
"display" : "3-hydroxyisobutyric aciduria"
},
{
"code" : "958",
"display" : "Acro-renal-mandibular syndrome"
},
{
"code" : "959",
"display" : "Acro-renal-ocular syndrome"
},
{
"code" : "969",
"display" : "Acromicric dysplasia"
},
{
"code" : "1005",
"display" : "Alopecia-contractures-dwarfism-intellectual disability syndrome"
},
{
"code" : "1052",
"display" : "Mosaic variegated aneuploidy syndrome"
},
{
"code" : "1063",
"display" : "Tufted angioma"
},
{
"code" : "1074",
"display" : "Ankyloblepharon filiforme adnatum-imperforate anus syndrome"
},
{
"code" : "1112",
"display" : "Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome"
},
{
"code" : "1160",
"display" : "Chylous ascites"
},
{
"code" : "1178",
"display" : "Ataxia-tapetoretinal degeneration syndrome"
},
{
"code" : "1180",
"display" : "Ataxia-hypogonadism-choroidal dystrophy syndrome"
},
{
"code" : "1194",
"display" : "TMEM70-related mitochondrial encephalo-cardio-myopathy"
},
{
"code" : "1201",
"display" : "Small bowel atresia"
},
{
"code" : "1209",
"display" : "Tricuspid atresia"
},
{
"code" : "1214",
"display" : "Progressive hemifacial atrophy"
},
{
"code" : "1223",
"display" : "Balantidiasis"
},
{
"code" : "1231",
"display" : "Barber-Say syndrome"
},
{
"code" : "1270",
"display" : "Bowen-Conradi syndrome"
},
{
"code" : "1278",
"display" : "Brachydactyly-preaxial hallux varus syndrome"
},
{
"code" : "1302",
"display" : "Cryptogenic organizing pneumonia"
},
{
"code" : "1304",
"display" : "Brucellosis"
},
{
"code" : "1335",
"display" : "Pentalogy of Cantrell"
},
{
"code" : "1377",
"display" : "Cataract-microcornea syndrome"
},
{
"code" : "1410",
"display" : "Uncombable hair syndrome"
},
{
"code" : "1445",
"display" : "Ring chromosome 21 syndrome"
},
{
"code" : "1453",
"display" : "Cleidorhizomelic syndrome"
},
{
"code" : "1454",
"display" : "Joubert syndrome with hepatic defect"
},
{
"code" : "1486",
"display" : "Lethal congenital contracture syndrome type 1"
},
{
"code" : "1508",
"display" : "Coxoauricular syndrome"
},
{
"code" : "1513",
"display" : "Craniodiaphyseal dysplasia"
},
{
"code" : "1520",
"display" : "Craniofrontonasal dysplasia"
},
{
"code" : "1525",
"display" : "Cranio-osteoarthropathy"
},
{
"code" : "1527",
"display" : "Craniosynostosis, Philadelphia type"
},
{
"code" : "1556",
"display" : "Cutis marmorata telangiectatica congenita"
},
{
"code" : "1600",
"display" : "Monosomy 18q"
},
{
"code" : "1642",
"display" : "Distal deletion 9p"
},
{
"code" : "1671",
"display" : "Split cord malformation type I"
},
{
"code" : "1685",
"display" : "Distomatosis"
},
{
"code" : "1711",
"display" : "Mosaic trisomy 17"
},
{
"code" : "1715",
"display" : "Trisomy 18p"
},
{
"code" : "1765",
"display" : "Dyschondrosteosis-nephritis syndrome"
},
{
"code" : "1766",
"display" : "Dysequilibrium syndrome"
},
{
"code" : "1770",
"display" : "XY type gonadal dysgenesis-associated anomalies syndrome"
},
{
"code" : "1779",
"display" : "Dysmorphism-cleft palate-loose skin syndrome"
},
{
"code" : "1798",
"display" : "Dysostosis, Stanescu type"
},
{
"code" : "1799",
"display" : "Familial developmental dysphasia"
},
{
"code" : "1842",
"display" : "Bone dysplasia, lethal Holmgren type"
},
{
"code" : "1855",
"display" : "Spondyloenchondrodysplasia"
},
{
"code" : "1860",
"display" : "Thanatophoric dysplasia type 1"
},
{
"code" : "1861",
"display" : "Thoracic dysplasia-hydrocephalus syndrome"
},
{
"code" : "1891",
"display" : "Intellectual disability-spasticity-ectrodactyly syndrome"
},
{
"code" : "1909",
"display" : "Indomethacin embryofetopathy"
},
{
"code" : "1912",
"display" : "Fetal hydantoin syndrome"
},
{
"code" : "1937",
"display" : "Eng-Strom syndrome"
},
{
"code" : "1946",
"display" : "Amelocerebrohypohidrotic syndrome"
},
{
"code" : "2017",
"display" : "Sternal cleft"
},
{
"code" : "2025",
"display" : "Gingival fibromatosis-facial dysmorphism syndrome"
},
{
"code" : "2027",
"display" : "Gingival fibromatosis-progressive deafness syndrome"
},
{
"code" : "2035",
"display" : "Lymphatic filariasis"
},
{
"code" : "2039",
"display" : "Congenital systemic arteriovenous fistula"
},
{
"code" : "2062",
"display" : "Progressive non-infectious anterior vertebral fusion"
},
{
"code" : "2065",
"display" : "Galloway-Mowat syndrome"
},
{
"code" : "2083",
"display" : "Prominent glabella-microcephaly-hypogenitalism syndrome"
},
{
"code" : "2091",
"display" : "Multinodular goiter-cystic kidney-polydactyly syndrome"
},
{
"code" : "2092",
"display" : "Focal dermal hypoplasia"
},
{
"code" : "2131",
"display" : "Alternating hemiplegia of childhood"
},
{
"code" : "2139",
"display" : "Hernández-Aguirre Negrete syndrome"
},
{
"code" : "2140",
"display" : "Congenital diaphragmatic hernia"
},
{
"code" : "2141",
"display" : "Diaphragmatic defect-limb deficiency-skull defect syndrome"
},
{
"code" : "2155",
"display" : "Hirschsprung disease-deafness-polydactyly syndrome"
},
{
"code" : "2162",
"display" : "Holoprosencephaly"
},
{
"code" : "2195",
"display" : "Dicarboxylic aminoaciduria"
},
{
"code" : "2196",
"display" : "Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement"
},
{
"code" : "2200",
"display" : "Focal palmoplantar and gingival keratoderma"
},
{
"code" : "2220",
"display" : "Hypertrichosis cubiti"
},
{
"code" : "2224",
"display" : "Hypertryptophanemia"
},
{
"code" : "2252",
"display" : "Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome"
},
{
"code" : "2254",
"display" : "Pontocerebellar hypoplasia type 1"
},
{
"code" : "2256",
"display" : "Fibulo-ulnar hypoplasia-renal anomalies syndrome"
},
{
"code" : "2269",
"display" : "Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome"
},
{
"code" : "2274",
"display" : "Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome"
},
{
"code" : "2282",
"display" : "Dysmorphism-short stature-deafness-difference of sex development syndrome"
},
{
"code" : "2301",
"display" : "Congenital short bowel syndrome"
},
{
"code" : "2323",
"display" : "Sanjad-Sakati syndrome"
},
{
"code" : "2333",
"display" : "Kenny-Caffey syndrome"
},
{
"code" : "2334",
"display" : "Autosomal dominant keratitis"
},
{
"code" : "2342",
"display" : "Haim-Munk syndrome"
},
{
"code" : "2351",
"display" : "Kousseff syndrome"
},
{
"code" : "2356",
"display" : "Arachnoid cyst"
},
{
"code" : "2371",
"display" : "Lethal Larsen-like syndrome"
},
{
"code" : "2399",
"display" : "Nasopalpebral lipoma-coloboma syndrome"
},
{
"code" : "2427",
"display" : "Macrocephaly-short stature-paraplegia syndrome"
},
{
"code" : "2432",
"display" : "Macrosomia-microphthalmia-cleft palate syndrome"
},
{
"code" : "2462",
"display" : "Shprintzen-Goldberg syndrome"
},
{
"code" : "2494",
"display" : "Ménétrier disease"
},
{
"code" : "2497",
"display" : "Upper limb mesomelic dysplasia"
},
{
"code" : "2573",
"display" : "Moyamoya disease"
},
{
"code" : "2578",
"display" : "Mayer-Rokitansky-Küster-Hauser syndrome type 2"
},
{
"code" : "2583",
"display" : "Mycetoma"
},
{
"code" : "2604",
"display" : "Familial visceral myopathy"
},
{
"code" : "2609",
"display" : "Isolated complex I deficiency"
},
{
"code" : "2637",
"display" : "Microcephalic osteodysplastic primordial dwarfism type II"
},
{
"code" : "2646",
"display" : "Parastremmatic dwarfism"
},
{
"code" : "2663",
"display" : "Nathalie syndrome"
},
{
"code" : "2669",
"display" : "Nephrosis-deafness-urinary tract-digital malformations syndrome"
},
{
"code" : "2698",
"display" : "Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome"
},
{
"code" : "2715",
"display" : "Severe oculo-renal-cerebellar syndrome"
},
{
"code" : "2721",
"display" : "Odonto-onycho-dermal dysplasia"
},
{
"code" : "2729",
"display" : "Okamoto syndrome"
},
{
"code" : "2750",
"display" : "Orofaciodigital syndrome type 1"
},
{
"code" : "2755",
"display" : "Orofaciodigital syndrome type 8"
},
{
"code" : "2764",
"display" : "Osteochondritis dissecans"
},
{
"code" : "2769",
"display" : "Familial osteodysplasia, Anderson type"
},
{
"code" : "2779",
"display" : "Osteopathia striata-pigmentary dermopathy-white forelock syndrome"
},
{
"code" : "2780",
"display" : "Osteopathia striata-cranial sclerosis syndrome"
},
{
"code" : "2788",
"display" : "Osteoporosis-pseudoglioma syndrome"
},
{
"code" : "2812",
"display" : "Parana hard skin syndrome"
},
{
"code" : "2826",
"display" : "Spastic paraplegia-precocious puberty syndrome"
},
{
"code" : "2832",
"display" : "Short tarsus-absence of lower eyelashes syndrome"
},
{
"code" : "2834",
"display" : "Wrinkly skin syndrome"
},
{
"code" : "2849",
"display" : "Perlman syndrome"
},
{
"code" : "2868",
"display" : "Short stature-valvular heart disease-characteristic facies syndrome"
},
{
"code" : "2876",
"display" : "PHAVER syndrome"
},
{
"code" : "2888",
"display" : "Pierre Robin syndrome-faciodigital anomaly syndrome"
},
{
"code" : "2899",
"display" : "Brachyolmia-amelogenesis imperfecta syndrome"
},
{
"code" : "2907",
"display" : "Hereditary acrokeratotic poikiloderma"
},
{
"code" : "2911",
"display" : "Poland syndrome"
},
{
"code" : "2912",
"display" : "Poliomyelitis"
},
{
"code" : "2956",
"display" : "Acrodysplasia scoliosis"
},
{
"code" : "2959",
"display" : "Progeria-short stature-pigmented nevi syndrome"
},
{
"code" : "2967",
"display" : "Transcobalamin I deficiency"
},
{
"code" : "2969",
"display" : "Proteus-like syndrome"
},
{
"code" : "2999",
"display" : "Ptosis-strabismus-ectopic pupils syndrome"
},
{
"code" : "3011",
"display" : "Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome"
},
{
"code" : "3020",
"display" : "Ramsay Hunt syndrome"
},
{
"code" : "3038",
"display" : "Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome"
},
{
"code" : "3057",
"display" : "Monoamine oxidase A deficiency"
},
{
"code" : "3086",
"display" : "Autosomal dominant vitreoretinochoroidopathy"
},
{
"code" : "3107",
"display" : "Autosomal dominant Robinow syndrome"
},
{
"code" : "3115",
"display" : "Roussy-Lévy syndrome"
},
{
"code" : "3124",
"display" : "Saccharopinuria"
},
{
"code" : "3130",
"display" : "Satoyoshi syndrome"
},
{
"code" : "3138",
"display" : "Ulnar-mammary syndrome"
},
{
"code" : "3156",
"display" : "Senior-Loken syndrome"
},
{
"code" : "3166",
"display" : "Sialuria"
},
{
"code" : "3169",
"display" : "Sirenomelia"
},
{
"code" : "3197",
"display" : "Hereditary hyperekplexia"
},
{
"code" : "3216",
"display" : "Conductive deafness-malformed external ear syndrome"
},
{
"code" : "3241",
"display" : "Deafness-craniofacial syndrome"
},
{
"code" : "3242",
"display" : "Renpenning syndrome"
},
{
"code" : "3259",
"display" : "Syndactyly-polydactyly-ear lobe syndrome"
},
{
"code" : "3262",
"display" : "Dobrow syndrome"
},
{
"code" : "3266",
"display" : "Humero-radio-ulnar synostosis"
},
{
"code" : "3286",
"display" : "Catecholaminergic polymorphic ventricular tachycardia"
},
{
"code" : "3307",
"display" : "Tetrasomy 18p"
},
{
"code" : "3324",
"display" : "Familial thrombomodulin anomalies"
},
{
"code" : "3325",
"display" : "Heparin-induced thrombocytopenia"
},
{
"code" : "3329",
"display" : "Tibial aplasia-ectrodactyly syndrome"
},
{
"code" : "3347",
"display" : "Mounier-Kühn syndrome"
},
{
"code" : "3365",
"display" : "Trigonocephaly-broad thumbs syndrome"
},
{
"code" : "3375",
"display" : "Trisomy X"
},
{
"code" : "3385",
"display" : "African trypanosomiasis"
},
{
"code" : "3386",
"display" : "American trypanosomiasis"
},
{
"code" : "3403",
"display" : "Uhl anomaly"
},
{
"code" : "3405",
"display" : "Umbilical cord ulceration-intestinal atresia syndrome"
},
{
"code" : "3447",
"display" : "Weaver syndrome"
},
{
"code" : "3466",
"display" : "WT limb-blood syndrome"
},
{
"code" : "32960",
"display" : "Tumor necrosis factor receptor 1 associated periodic syndrome"
},
{
"code" : "33108",
"display" : "Lethal multiple pterygium syndrome"
},
{
"code" : "33445",
"display" : "Neuroectodermal melanolysosomal disease"
},
{
"code" : "33573",
"display" : "Gamma-glutamyl transpeptidase deficiency"
},
{
"code" : "34520",
"display" : "Congenital muscular dystrophy with integrin alpha-7 deficiency"
},
{
"code" : "34592",
"display" : "Immunodeficiency by defective expression of MHC class I"
},
{
"code" : "35078",
"display" : "T-B+ severe combined immunodeficiency due to JAK3 deficiency"
},
{
"code" : "35125",
"display" : "Epidermal nevus syndrome"
},
{
"code" : "35704",
"display" : "L-Arginine:glycine amidinotransferase deficiency"
},
{
"code" : "35706",
"display" : "Glutaric acidemia type 3"
},
{
"code" : "36387",
"display" : "Generalized epilepsy with febrile seizures-plus"
},
{
"code" : "37748",
"display" : "Schnitzler syndrome"
},
{
"code" : "40366",
"display" : "Acitretin/etretinate embryopathy"
},
{
"code" : "40923",
"display" : "Eales disease"
},
{
"code" : "43115",
"display" : "Hereditary myopathy with lactic acidosis due to ISCU deficiency"
},
{
"code" : "43393",
"display" : "Lambert-Eaton myasthenic syndrome"
},
{
"code" : "46627",
"display" : "Char syndrome"
},
{
"code" : "48435",
"display" : "Postinfectious vasculitis"
},
{
"code" : "49827",
"display" : "Thiamine-responsive megaloblastic anemia syndrome"
},
{
"code" : "50251",
"display" : "Pleural mesothelioma"
},
{
"code" : "50809",
"display" : "Talo-patello-scaphoid osteolysis"
},
{
"code" : "50811",
"display" : "Lipodystrophy-intellectual disability-deafness syndrome"
},
{
"code" : "50812",
"display" : "Zellweger-like syndrome without peroxisomal anomalies"
},
{
"code" : "50942",
"display" : "Striate palmoplantar keratoderma"
},
{
"code" : "50944",
"display" : "Schöpf-Schulz-Passarge syndrome"
},
{
"code" : "51188",
"display" : "Ethylmalonic encephalopathy"
},
{
"code" : "52054",
"display" : "Craniosynostosis-intracranial calcifications syndrome"
},
{
"code" : "52416",
"display" : "Mantle cell lymphoma"
},
{
"code" : "53035",
"display" : "Caroli disease"
},
{
"code" : "53583",
"display" : "Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity"
},
{
"code" : "53721",
"display" : "Spinal arteriovenous metameric syndrome"
},
{
"code" : "56305",
"display" : "Atelosteogenesis type III"
},
{
"code" : "60039",
"display" : "Pudendal neuralgia"
},
{
"code" : "63269",
"display" : "Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis"
},
{
"code" : "63275",
"display" : "Pemphigoid gestationis"
},
{
"code" : "63455",
"display" : "Paraneoplastic pemphigus"
},
{
"code" : "64753",
"display" : "Spinocerebellar ataxia with axonal neuropathy type 2"
},
{
"code" : "64754",
"display" : "Nevus comedonicus syndrome"
},
{
"code" : "65285",
"display" : "Lhermitte-Duclos disease"
},
{
"code" : "65286",
"display" : "3q29 microdeletion syndrome"
},
{
"code" : "65681",
"display" : "Vaginal atresia"
},
{
"code" : "66624",
"display" : "PANDAS"
},
{
"code" : "66627",
"display" : "Tenosynovial giant cell tumor"
},
{
"code" : "66629",
"display" : "Goldberg-Shprintzen megacolon syndrome"
},
{
"code" : "69084",
"display" : "Pure hair and nail ectodermal dysplasia"
},
{
"code" : "69663",
"display" : "Low phospholipid-associated cholelithiasis"
},
{
"code" : "69735",
"display" : "Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome"
},
{
"code" : "69736",
"display" : "Bilateral acute depigmentation of the iris"
},
{
"code" : "70472",
"display" : "Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type"
},
{
"code" : "70475",
"display" : "Radiation proctitis"
},
{
"code" : "70568",
"display" : "Post-transplant lymphoproliferative disease"
},
{
"code" : "70578",
"display" : "Adult acute respiratory distress syndrome"
},
{
"code" : "70589",
"display" : "Bronchopulmonary dysplasia"
},
{
"code" : "70592",
"display" : "Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency"
},
{
"code" : "71212",
"display" : "Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency"
},
{
"code" : "73245",
"display" : "Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome"
},
{
"code" : "73271",
"display" : "Bleeding diathesis due to a collagen receptor defect"
},
{
"code" : "75326",
"display" : "Retinal arterial tortuosity"
},
{
"code" : "77297",
"display" : "Majeed syndrome"
},
{
"code" : "77298",
"display" : "Anophthalmia/microphthalmia-esophageal atresia syndrome"
},
{
"code" : "79076",
"display" : "Juvenile polyposis of infancy"
},
{
"code" : "79084",
"display" : "Familial partial lipodystrophy, Köbberling type"
},
{
"code" : "79093",
"display" : "Foix-Alajouanine syndrome"
},
{
"code" : "79095",
"display" : "Congenital bile acid synthesis defect type 4"
},
{
"code" : "79126",
"display" : "Acute interstitial pneumonia"
},
{
"code" : "79127",
"display" : "Respiratory bronchiolitis-interstitial lung disease syndrome"
},
{
"code" : "79135",
"display" : "Episodic ataxia type 3"
},
{
"code" : "79136",
"display" : "Episodic ataxia type 4"
},
{
"code" : "79137",
"display" : "Generalized epilepsy-paroxysmal dyskinesia syndrome"
},
{
"code" : "79146",
"display" : "Familial progressive hyperpigmentation"
},
{
"code" : "79153",
"display" : "Idiopathic trachyonychia"
},
{
"code" : "79155",
"display" : "Hydroxykynureninuria"
},
{
"code" : "79159",
"display" : "Isobutyryl-CoA dehydrogenase deficiency"
},
{
"code" : "79230",
"display" : "HJV or HAMP-related hemochromatosis"
},
{
"code" : "79238",
"display" : "Galactose epimerase deficiency"
},
{
"code" : "79241",
"display" : "Biotinidase deficiency"
},
{
"code" : "79269",
"display" : "Sanfilippo syndrome type A"
},
{
"code" : "79270",
"display" : "Sanfilippo syndrome type B"
},
{
"code" : "79278",
"display" : "Autosomal erythropoietic protoporphyria"
},
{
"code" : "79293",
"display" : "Familial LCAT deficiency"
},
{
"code" : "79314",
"display" : "L-2-hydroxyglutaric aciduria"
},
{
"code" : "79394",
"display" : "Congenital ichthyosiform erythroderma"
},
{
"code" : "79404",
"display" : "Severe generalized junctional epidermolysis bullosa"
},
{
"code" : "79432",
"display" : "Oculocutaneous albinism type 2"
},
{
"code" : "79435",
"display" : "Oculocutaneous albinism type 4"
},
{
"code" : "79445",
"display" : "Pseudopseudohypoparathyroidism"
},
{
"code" : "79452",
"display" : "Milroy disease"
},
{
"code" : "79474",
"display" : "Atypical Werner syndrome"
},
{
"code" : "79493",
"display" : "Brooke-Spiegler syndrome"
},
{
"code" : "83317",
"display" : "Scrub typhus"
},
{
"code" : "83451",
"display" : "Florid cemento-osseous dysplasia"
},
{
"code" : "83593",
"display" : "Western equine encephalitis"
},
{
"code" : "83642",
"display" : "Microcytic anemia with liver iron overload"
},
{
"code" : "85138",
"display" : "Addison disease"
},
{
"code" : "85172",
"display" : "Microcephalic osteodysplastic dysplasia, Saul-Wilson type"
},
{
"code" : "85191",
"display" : "Singleton-Merten dysplasia"
},
{
"code" : "85199",
"display" : "Craniosynostosis-anal anomalies-porokeratosis syndrome"
},
{
"code" : "85273",
"display" : "X-linked intellectual disability, Abidi type"
},
{
"code" : "85275",
"display" : "Microphthalmia-ankyloblepharon-intellectual disability syndrome"
},
{
"code" : "85322",
"display" : "X-linked intellectual disability, Pai type"
},
{
"code" : "85414",
"display" : "Systemic-onset juvenile idiopathic arthritis"
},
{
"code" : "86817",
"display" : "Hemolytic anemia due to adenylate kinase deficiency"
},
{
"code" : "86839",
"display" : "Refractory anemia with excess blasts"
},
{
"code" : "86843",
"display" : "Acute panmyelosis with myelofibrosis"
},
{
"code" : "86854",
"display" : "Splenic marginal zone lymphoma"
},
{
"code" : "86886",
"display" : "Angioimmunoblastic T-cell lymphoma"
},
{
"code" : "88616",
"display" : "Autosomal recessive non-syndromic intellectual disability"
},
{
"code" : "88939",
"display" : "Pseudohypoaldosteronism type 2B"
},
{
"code" : "88949",
"display" : "MUC1-related autosomal dominant tubulointerstitial kidney disease"
},
{
"code" : "90020",
"display" : "Parkinson-dementia complex of Guam"
},
{
"code" : "90021",
"display" : "Radiation myelitis"
},
{
"code" : "90066",
"display" : "Pneumonia caused by Pseudomonas aeruginosa infection"
},
{
"code" : "90069",
"display" : "Systemic monochloroacetate poisoning"
},
{
"code" : "90117",
"display" : "Hereditary motor and sensory neuropathy, Okinawa type"
},
{
"code" : "90186",
"display" : "Meige disease"
},
{
"code" : "90389",
"display" : "Telangiectasia macularis eruptiva perstans"
},
{
"code" : "90400",
"display" : "Scleromyxedema without monoclonal gammopathy"
},
{
"code" : "90794",
"display" : "Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency"
},
{
"code" : "91352",
"display" : "Germinoma of the central nervous system"
},
{
"code" : "91397",
"display" : "Isolated ankyloblepharon filiforme adnatum"
},
{
"code" : "91416",
"display" : "Isolated congenital alacrima"
},
{
"code" : "91496",
"display" : "Snowflake vitreoretinal degeneration"
},
{
"code" : "91547",
"display" : "Relapsing fever"
},
{
"code" : "93101",
"display" : "Renal hypoplasia"
},
{
"code" : "93109",
"display" : "Congenital megacalycosis"
},
{
"code" : "93256",
"display" : "Fragile X-associated tremor/ataxia syndrome"
},
{
"code" : "93258",
"display" : "Pfeiffer syndrome type 1"
},
{
"code" : "93267",
"display" : "Cloverleaf skull-multiple congenital anomalies syndrome"
},
{
"code" : "93270",
"display" : "Short rib-polydactyly syndrome, Saldino-Noonan type"
},
{
"code" : "93279",
"display" : "Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis"
},
{
"code" : "93307",
"display" : "Multiple epiphyseal dysplasia type 4"
},
{
"code" : "93315",
"display" : "Spondylometaphyseal dysplasia, 'corner fracture' type"
},
{
"code" : "93322",
"display" : "Tibial hemimelia"
},
{
"code" : "93339",
"display" : "Polydactyly of a biphalangeal thumb and/or hallux"
},
{
"code" : "93346",
"display" : "Spondyloepimetaphyseal dysplasia congenita, Strudwick type"
},
{
"code" : "93347",
"display" : "Anauxetic dysplasia"
},
{
"code" : "93358",
"display" : "Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome"
},
{
"code" : "93396",
"display" : "Brachydactyly type A2"
},
{
"code" : "93399",
"display" : "Juvenile sialidosis type 2"
},
{
"code" : "93600",
"display" : "Primary hyperoxaluria type 3"
},
{
"code" : "93602",
"display" : "Xanthinuria type II"
},
{
"code" : "93613",
"display" : "Cystinuria type B"
},
{
"code" : "93930",
"display" : "Bladder exstrophy"
},
{
"code" : "93939",
"display" : "Laryngotracheoesophageal cleft type 2"
},
{
"code" : "93946",
"display" : "Hamel cerebro-palato-cardiac syndrome"
},
{
"code" : "93976",
"display" : "Anotia"
},
{
"code" : "94056",
"display" : "Humero-ulnar synostosis"
},
{
"code" : "94063",
"display" : "12q14 microdeletion syndrome"
},
{
"code" : "94087",
"display" : "Cytophagic histiocytic panniculitis"
},
{
"code" : "94125",
"display" : "Recessive mitochondrial ataxia syndrome"
},
{
"code" : "95409",
"display" : "Acute adrenal insufficiency"
},
{
"code" : "95430",
"display" : "Congenital tracheomalacia"
},
{
"code" : "95431",
"display" : "Twin to twin transfusion syndrome"
},
{
"code" : "95443",
"display" : "Mesocardia"
},
{
"code" : "95462",
"display" : "Accessory tricuspid valve tissue"
},
{
"code" : "95491",
"display" : "Congenital coronary artery aneurysm"
},
{
"code" : "95507",
"display" : "Congenital anomaly of hepatic vein"
},
{
"code" : "95699",
"display" : "Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency"
},
{
"code" : "96071",
"display" : "Distal duplication 3p"
},
{
"code" : "96101",
"display" : "Distal duplication 9q"
},
{
"code" : "96112",
"display" : "Non-distal duplication 9q"
},
{
"code" : "96129",
"display" : "Distal deletion 19p"
},
{
"code" : "96145",
"display" : "Distal deletion 4q"
},
{
"code" : "96169",
"display" : "Koolen-De Vries syndrome"
},
{
"code" : "96171",
"display" : "Ring chromosome 2 syndrome"
},
{
"code" : "96178",
"display" : "Ring chromosome 16 syndrome"
},
{
"code" : "96184",
"display" : "Temple syndrome due to maternal uniparental disomy of chromosome 14"
},
{
"code" : "96188",
"display" : "Maternal uniparental disomy of chromosome 22"
},
{
"code" : "97230",
"display" : "Solar urticaria"
},
{
"code" : "97232",
"display" : "Fingerprint body myopathy"
},
{
"code" : "97282",
"display" : "VIPoma"
},
{
"code" : "97336",
"display" : "Panner disease"
},
{
"code" : "97355",
"display" : "Caribbean parkinsonism"
},
{
"code" : "97566",
"display" : "Non-amyloid fibrillary glomerulopathy"
},
{
"code" : "98759",
"display" : "Spinocerebellar ataxia type 17"
},
{
"code" : "98765",
"display" : "Spinocerebellar ataxia type 4"
},
{
"code" : "98791",
"display" : "Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16"
},
{
"code" : "98823",
"display" : "Chronic myelomonocytic leukemia"
},
{
"code" : "98832",
"display" : "Acute myeloid leukemia with minimal differentiation"
},
{
"code" : "98838",
"display" : "Primary mediastinal large B-cell lymphoma"
},
{
"code" : "98846",
"display" : "Classic Hodgkin lymphoma, lymphocyte-depleted type"
},
{
"code" : "98863",
"display" : "X-linked Emery-Dreifuss muscular dystrophy"
},
{
"code" : "98871",
"display" : "Transient erythroblastopenia of childhood"
},
{
"code" : "98892",
"display" : "Periventricular nodular heterotopia"
},
{
"code" : "98896",
"display" : "Duchenne muscular dystrophy"
},
{
"code" : "98934",
"display" : "Huntington disease-like 2"
},
{
"code" : "98943",
"display" : "Coloboma of eye lens"
},
{
"code" : "98954",
"display" : "Meesmann corneal dystrophy"
},
{
"code" : "98962",
"display" : "Granular corneal dystrophy type I"
},
{
"code" : "98967",
"display" : "Schnyder corneal dystrophy"
},
{
"code" : "98970",
"display" : "Fleck corneal dystrophy"
},
{
"code" : "98975",
"display" : "Congenital hereditary endothelial dystrophy type I"
},
{
"code" : "98979",
"display" : "Chandler syndrome"
},
{
"code" : "98981",
"display" : "Essential iris atrophy"
},
{
"code" : "98990",
"display" : "Coralliform cataract"
},
{
"code" : "99014",
"display" : "X-linked Charcot-Marie-Tooth disease type 5"
},
{
"code" : "99057",
"display" : "Congenital mitral stenosis"
},
{
"code" : "99058",
"display" : "Hypoplasia of the mitral valve annulus"
},
{
"code" : "99062",
"display" : "Mitral valve agenesis"
},
{
"code" : "99082",
"display" : "Dysphagia lusoria"
},
{
"code" : "99110",
"display" : "Right superior vena cava connecting to left-sided atrium"
},
{
"code" : "99120",
"display" : "Persistent eustachian valve"
},
{
"code" : "99179",
"display" : "Kandori fleck retina"
},
{
"code" : "99226",
"display" : "Monosomy X"
},
{
"code" : "99228",
"display" : "Mosaic monosomy X"
},
{
"code" : "99361",
"display" : "Familial medullary thyroid carcinoma"
},
{
"code" : "99413",
"display" : "Turner syndrome due to structural X chromosome anomalies"
},
{
"code" : "99688",
"display" : "Dermotrichic syndrome"
},
{
"code" : "99748",
"display" : "Pontiac fever"
},
{
"code" : "99772",
"display" : "Cleft velum"
},
{
"code" : "99792",
"display" : "Dentin dysplasia-sclerotic bones syndrome"
},
{
"code" : "99811",
"display" : "Neuronal intestinal pseudoobstruction"
},
{
"code" : "99829",
"display" : "Yellow fever"
},
{
"code" : "99879",
"display" : "Familial isolated hyperparathyroidism"
},
{
"code" : "99905",
"display" : "Streptobacillary rat-bite fever"
},
{
"code" : "99912",
"display" : "Malignant dysgerminomatous germ cell tumor of the ovary"
},
{
"code" : "99939",
"display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2E"
},
{
"code" : "99944",
"display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2K"
},
{
"code" : "99948",
"display" : "Charcot-Marie-Tooth disease type 4A"
},
{
"code" : "99953",
"display" : "Charcot-Marie-Tooth disease type 4G"
},
{
"code" : "99965",
"display" : "O'Sullivan-McLeod syndrome"
},
{
"code" : "99991",
"display" : "Relapsing epidemic typhus"
},
{
"code" : "100001",
"display" : "Sclerosing perineurioma"
},
{
"code" : "100025",
"display" : "Alpha-heavy chain disease"
},
{
"code" : "100026",
"display" : "Gamma-heavy chain disease"
},
{
"code" : "100046",
"display" : "Autosomal dominant intermediate Charcot-Marie-Tooth disease type D"
},
{
"code" : "100067",
"display" : "Waterhouse-Friderichsen syndrome"
},
{
"code" : "100085",
"display" : "Primary hepatic neuroendocrine carcinoma"
},
{
"code" : "100086",
"display" : "Gallbladder neuroendocrine tumor"
},
{
"code" : "100986",
"display" : "Autosomal recessive spastic paraplegia type 5A"
},
{
"code" : "100994",
"display" : "Autosomal dominant spastic paraplegia type 13"
},
{
"code" : "101001",
"display" : "Autosomal recessive spastic paraplegia type 21"
},
{
"code" : "101006",
"display" : "Autosomal recessive spastic paraplegia type 26"
},
{
"code" : "101008",
"display" : "Autosomal recessive spastic paraplegia type 28"
},
{
"code" : "101023",
"display" : "Cleft hard palate"
},
{
"code" : "101043",
"display" : "Congenital aortic valve dysplasia"
},
{
"code" : "101088",
"display" : "X-linked hyper-IgM syndrome"
},
{
"code" : "101330",
"display" : "Porphyria cutanea tarda"
},
{
"code" : "103908",
"display" : "Congenital sodium diarrhea"
},
{
"code" : "103909",
"display" : "Trehalase deficiency"
},
{
"code" : "137628",
"display" : "Cardiac anomalies-heterotaxy syndrome"
},
{
"code" : "137639",
"display" : "Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome"
},
{
"code" : "137681",
"display" : "Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1"
},
{
"code" : "137698",
"display" : "Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk"
},
{
"code" : "137810",
"display" : "Nodular cutaneous amyloidosis"
},
{
"code" : "137817",
"display" : "Arachnoiditis"
},
{
"code" : "137820",
"display" : "Extrapelvic endometriosis"
},
{
"code" : "139406",
"display" : "Encephalopathy due to prosaposin deficiency"
},
{
"code" : "139444",
"display" : "Leukoencephalopathy with bilateral anterior temporal lobe cysts"
},
{
"code" : "139485",
"display" : "Autosomal recessive ataxia due to ubiquinone deficiency"
},
{
"code" : "139578",
"display" : "Mutilating hereditary sensory neuropathy with spastic paraplegia"
},
{
"code" : "140286",
"display" : "Secondary hypoparathyroidism due to impaired parathormon secretion"
},
{
"code" : "140927",
"display" : "Benign familial neonatal-infantile seizures"
},
{
"code" : "140933",
"display" : "Linear atrophoderma of Moulin"
},
{
"code" : "140957",
"display" : "Autosomal dominant macrothrombocytopenia"
},
{
"code" : "141007",
"display" : "Orofaciodigital syndrome type 9"
},
{
"code" : "141067",
"display" : "Cervicofacial fibrochondroma"
},
{
"code" : "141107",
"display" : "Nasopharyngeal teratoma"
},
{
"code" : "141121",
"display" : "Congenital subglottic stenosis"
},
{
"code" : "141163",
"display" : "Glossopalatine ankylosis"
},
{
"code" : "141179",
"display" : "Non-involuting congenital hemangioma"
},
{
"code" : "141214",
"display" : "Isolated congenital syngnathia"
},
{
"code" : "141265",
"display" : "Tessier number 6 facial cleft"
},
{
"code" : "141288",
"display" : "Midline cervical cleft"
},
{
"code" : "157215",
"display" : "Hereditary hypophosphatemic rickets with hypercalciuria"
},
{
"code" : "157794",
"display" : "Hereditary mixed polyposis syndrome"
},
{
"code" : "157946",
"display" : "Huntington disease-like 3"
},
{
"code" : "157949",
"display" : "Combined immunodeficiency with granulomatosis"
},
{
"code" : "158022",
"display" : "Progressive nodular histiocytosis"
},
{
"code" : "158061",
"display" : "Macrophage activation syndrome"
},
{
"code" : "158676",
"display" : "Localized dystrophic epidermolysis bullosa, nails only"
},
{
"code" : "160148",
"display" : "Cap polyposis"
},
{
"code" : "163525",
"display" : "Subacute cutaneous lupus erythematosus"
},
{
"code" : "163690",
"display" : "Hypotonia-cystinuria syndrome"
},
{
"code" : "163927",
"display" : "Pustulosis palmaris et plantaris"
},
{
"code" : "166087",
"display" : "Von Willebrand disease type 2B"
},
{
"code" : "166286",
"display" : "Porokeratotic eccrine ostial and dermal duct nevus"
},
{
"code" : "167635",
"display" : "Scleromyxedema"
},
{
"code" : "168577",
"display" : "Hereditary cryohydrocytosis with reduced stomatin"
},
{
"code" : "168598",
"display" : "Methionine adenosyltransferase I/III deficiency"
},
{
"code" : "168796",
"display" : "Heart-hand syndrome, Slovenian type"
},
{
"code" : "168947",
"display" : "Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement"
},
{
"code" : "169186",
"display" : "Autosomal recessive centronuclear myopathy"
},
{
"code" : "169189",
"display" : "Autosomal dominant centronuclear myopathy"
},
{
"code" : "169805",
"display" : "Moderate hemophilia A"
},
{
"code" : "171839",
"display" : "Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome"
},
{
"code" : "171863",
"display" : "Autosomal dominant spastic paraplegia type 42"
},
{
"code" : "177901",
"display" : "Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1"
},
{
"code" : "177929",
"display" : "Bleeding disorder in hemophilia B carriers"
},
{
"code" : "178029",
"display" : "Central diabetes insipidus"
},
{
"code" : "178148",
"display" : "Antenatal multiminicore disease with arthrogryposis multiplex congenita"
},
{
"code" : "178303",
"display" : "8q22.1 microdeletion syndrome"
},
{
"code" : "178315",
"display" : "Undifferentiated embryonal sarcoma of the liver"
},
{
"code" : "178478",
"display" : "Infant botulism"
},
{
"code" : "178540",
"display" : "Primary cutaneous follicle center lymphoma"
},
{
"code" : "180226",
"display" : "Embryonal carcinoma"
},
{
"code" : "180234",
"display" : "Mixed germ cell tumor"
},
{
"code" : "182050",
"display" : "MYH9-related disease"
},
{
"code" : "182127",
"display" : "Extragonadal germinoma"
},
{
"code" : "199251",
"display" : "Ledderhose disease"
},
{
"code" : "199299",
"display" : "Late-onset isolated ACTH deficiency"
},
{
"code" : "199351",
"display" : "Adult-onset dystonia-parkinsonism"
},
{
"code" : "200421",
"display" : "Immunodeficiency with factor H anomaly"
},
{
"code" : "206448",
"display" : "Adult Krabbe disease"
},
{
"code" : "208999",
"display" : "Paraneoplastic sensory ganglionopathy"
},
{
"code" : "209867",
"display" : "Autosomal dominant rhegmatogenous retinal detachment"
},
{
"code" : "209959",
"display" : "Phacoanaphylactic uveitis"
},
{
"code" : "213504",
"display" : "Adenocarcinoma of ovary"
},
{
"code" : "213823",
"display" : "Adenoid cystic carcinoma of the cervix uteri"
},
{
"code" : "216729",
"display" : "Congenitally uncorrected transposition of the great arteries with cardiac malformation"
},
{
"code" : "216981",
"display" : "Niemann-Pick disease type C, juvenile neurologic onset"
},
{
"code" : "216986",
"display" : "Niemann-Pick disease type C, adult neurologic onset"
},
{
"code" : "217026",
"display" : "Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type"
},
{
"code" : "217560",
"display" : "Neuroendocrine cell hyperplasia of infancy"
},
{
"code" : "217622",
"display" : "Sensorineural deafness with dilated cardiomyopathy"
},
{
"code" : "220386",
"display" : "Semilobar holoprosencephaly"
},
{
"code" : "221039",
"display" : "Hereditary sclerosing poikiloderma, Weary type"
},
{
"code" : "221046",
"display" : "Poikiloderma with neutropenia"
},
{
"code" : "221120",
"display" : "Pseudoaminopterin syndrome"
},
{
"code" : "225123",
"display" : "TFR2-related hemochromatosis"
},
{
"code" : "225147",
"display" : "Sporadic infantile bilateral striatal necrosis"
},
{
"code" : "226307",
"display" : "Hypothyroidism due to deficient transcription factors involved in pituitary development or function"
},
{
"code" : "227796",
"display" : "Fundus albipunctatus"
},
{
"code" : "227972",
"display" : "Toxic oil syndrome"
},
{
"code" : "227982",
"display" : "Autoimmune polyendocrinopathy type 3"
},
{
"code" : "228003",
"display" : "Severe combined immunodeficiency due to CORO1A deficiency"
},
{
"code" : "228113",
"display" : "Anal fistula"
},
{
"code" : "228190",
"display" : "Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome"
},
{
"code" : "228254",
"display" : "Elastoma"
},
{
"code" : "228299",
"display" : "Mid-dermal elastolysis"
},
{
"code" : "228308",
"display" : "Carnitine palmitoyl transferase II deficiency, neonatal form"
},
{
"code" : "228366",
"display" : "CLN7 disease"
},
{
"code" : "228374",
"display" : "Charcot-Marie-Tooth disease type 2B5"
},
{
"code" : "228399",
"display" : "8q12 microduplication syndrome"
},
{
"code" : "228402",
"display" : "2q23.1 microdeletion syndrome"
},
{
"code" : "228423",
"display" : "Monocytopenia with susceptibility to infections"
},
{
"code" : "230857",
"display" : "Ehlers-Danlos/osteogenesis imperfecta syndrome"
},
{
"code" : "231040",
"display" : "Familial generalized lentiginosis"
},
{
"code" : "231226",
"display" : "Dominant beta-thalassemia"
},
{
"code" : "231568",
"display" : "Autosomal dominant generalized dystrophic epidermolysis bullosa"
},
{
"code" : "231742",
"display" : "Epibulbar lipodermoid-preauricular appendage-polythelia syndrome"
},
{
"code" : "238523",
"display" : "Atypical hypotonia-cystinuria syndrome"
},
{
"code" : "238569",
"display" : "Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome"
},
{
"code" : "238583",
"display" : "Hyperphenylalaninemia due to tetrahydrobiopterin deficiency"
},
{
"code" : "238624",
"display" : "Idiopathic intracranial hypertension"
},
{
"code" : "238666",
"display" : "Isolated congenital hypogonadotropic hypogonadism"
},
{
"code" : "238763",
"display" : "Glaucoma secondary to spherophakia/ectopia lentis and megalocornea"
},
{
"code" : "247378",
"display" : "Autosomal recessive secondary polycythemia not associated with VHL gene"
},
{
"code" : "247525",
"display" : "Citrullinemia type I"
},
{
"code" : "247638",
"display" : "Prenatal benign hypophosphatasia"
},
{
"code" : "247685",
"display" : "Odontohypophosphatasia"
},
{
"code" : "250989",
"display" : "1q21.1 microdeletion syndrome"
},
{
"code" : "251028",
"display" : "SATB2-associated syndrome due to a chromosomal rearrangement"
},
{
"code" : "251380",
"display" : "Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome"
},
{
"code" : "251623",
"display" : "Pituicytoma"
},
{
"code" : "251630",
"display" : "Anaplastic oligodendroglioma"
},
{
"code" : "251855",
"display" : "Anaplastic/large cell medulloblastoma"
},
{
"code" : "251867",
"display" : "Classic medulloblastoma"
},
{
"code" : "251877",
"display" : "Ganglioneuroblastoma"
},
{
"code" : "251915",
"display" : "Papillary tumor of the pineal region"
},
{
"code" : "251937",
"display" : "Gangliocytoma"
},
{
"code" : "252006",
"display" : "Yolk sac tumor of central nervous system"
},
{
"code" : "252021",
"display" : "Mixed germ cell tumor of central nervous system"
},
{
"code" : "252046",
"display" : "Meningeal melanocytoma"
},
{
"code" : "254334",
"display" : "Autosomal recessive intermediate Charcot-Marie-Tooth disease type B"
},
{
"code" : "254449",
"display" : "Atrophic lichen planus"
},
{
"code" : "254478",
"display" : "Lichen planus pemphigoides"
},
{
"code" : "254519",
"display" : "Kagami-Ogata syndrome"
},
{
"code" : "254525",
"display" : "Temple syndrome due to paternal 14q32.2 microdeletion"
},
{
"code" : "254534",
"display" : "Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation"
},
{
"code" : "254898",
"display" : "Deafness-encephaloneuropathy-obesity-valvulopathy syndrome"
},
{
"code" : "255132",
"display" : "Adult-onset autosomal recessive sideroblastic anemia"
},
{
"code" : "255138",
"display" : "Pyruvate dehydrogenase E1-beta deficiency"
},
{
"code" : "255210",
"display" : "Mitochondrial DNA-associated Leigh syndrome"
},
{
"code" : "261120",
"display" : "14q11.2 microdeletion syndrome"
},
{
"code" : "261243",
"display" : "16p13.11 microduplication syndrome"
},
{
"code" : "261279",
"display" : "17q23.1q23.2 microdeletion syndrome"
},
{
"code" : "261290",
"display" : "Trisomy 17p"
},
{
"code" : "261537",
"display" : "Mowat-Wilson syndrome due to monosomy 2q22"
},
{
"code" : "263432",
"display" : "Nevus of Ito"
},
{
"code" : "263455",
"display" : "Congenital hyperinsulinism due to HNF4A deficiency"
},
{
"code" : "263479",
"display" : "Fuchs heterochromic iridocyclitis"
},
{
"code" : "264200",
"display" : "14q22q23 microdeletion syndrome"
},
{
"code" : "264691",
"display" : "Isolated pulmonary capillaritis"
},
{
"code" : "268173",
"display" : "Intermittent maple syrup urine disease"
},
{
"code" : "268363",
"display" : "Open iniencephaly"
},
{
"code" : "268943",
"display" : "Unilateral polymicrogyria"
},
{
"code" : "269209",
"display" : "Isolated partial cerebellar vermis agenesis"
},
{
"code" : "269221",
"display" : "Isolated bilateral hemispheric cerebellar hypoplasia"
},
{
"code" : "269510",
"display" : "Congenital non-communicating hydrocephalus"
},
{
"code" : "276066",
"display" : "Bile acid CoA ligase deficiency and defective amidation"
},
{
"code" : "276608",
"display" : "Non-insulinoma pancreatogenous hypoglycemia syndrome"
},
{
"code" : "279928",
"display" : "Paraneoplastic uveitis"
},
{
"code" : "279934",
"display" : "Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency"
},
{
"code" : "280205",
"display" : "Laryngotracheoesophageal cleft type 0"
},
{
"code" : "280210",
"display" : "Pelizaeus-Merzbacher disease, connatal form"
},
{
"code" : "280302",
"display" : "Autoimmune pancreatitis type 1"
},
{
"code" : "280325",
"display" : "Distal deletion 12p"
},
{
"code" : "280384",
"display" : "Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome"
},
{
"code" : "280397",
"display" : "Familial Alzheimer-like prion disease"
},
{
"code" : "280779",
"display" : "Cutaneous collagenous vasculopathy"
},
{
"code" : "284139",
"display" : "Larsen-like syndrome, B3GAT3 type"
},
{
"code" : "284271",
"display" : "Autosomal recessive cerebellar ataxia-psychomotor delay syndrome"
},
{
"code" : "284289",
"display" : "Adult-onset autosomal recessive cerebellar ataxia"
},
{
"code" : "284324",
"display" : "Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia"
},
{
"code" : "284411",
"display" : "Glycerol kinase deficiency, juvenile form"
},
{
"code" : "284979",
"display" : "Neonatal Marfan syndrome"
},
{
"code" : "289377",
"display" : "Early-onset myopathy with fatal cardiomyopathy"
},
{
"code" : "289478",
"display" : "PASH syndrome"
},
{
"code" : "289483",
"display" : "Intellectual disability-alacrima-achalasia syndrome"
},
{
"code" : "289548",
"display" : "Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency"
},
{
"code" : "293202",
"display" : "Epithelioid sarcoma"
},
{
"code" : "293284",
"display" : "Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria"
},
{
"code" : "293807",
"display" : "Ketamine-induced biliary dilatation"
},
{
"code" : "293888",
"display" : "Familial isolated arrhythmogenic ventricular dysplasia, left dominant form"
},
{
"code" : "294023",
"display" : "Neonatal inflammatory skin and bowel disease"
},
{
"code" : "294969",
"display" : "Amelia of lower limb"
},
{
"code" : "294977",
"display" : "Congenital absence of thigh and lower leg with foot present"
},
{
"code" : "295002",
"display" : "Hyperphalangy"
},
{
"code" : "295004",
"display" : "Central polydactyly"
},
{
"code" : "295016",
"display" : "Camptodactyly of fingers"
},
{
"code" : "295044",
"display" : "Macrodactyly of fingers"
},
{
"code" : "295051",
"display" : "Lower limb hypertrophy"
},
{
"code" : "295199",
"display" : "Synpolydactyly type 3"
},
{
"code" : "295203",
"display" : "Congenital vertical talus, bilateral"
},
{
"code" : "295217",
"display" : "Radio-ulnar synostosis, unilateral"
},
{
"code" : "295225",
"display" : "Congenital elbow dislocation, unilateral"
},
{
"code" : "300313",
"display" : "Congenital cataract-hearing loss-severe developmental delay syndrome"
},
{
"code" : "300324",
"display" : "Persistent polyclonal B-cell lymphocytosis"
},
{
"code" : "300345",
"display" : "Autosomal systemic lupus erythematosus"
},
{
"code" : "300501",
"display" : "Painful orbital and systemic neurofibromas-marfanoid habitus syndrome"
},
{
"code" : "300504",
"display" : "Onychocytic matricoma"
},
{
"code" : "300557",
"display" : "Carcinoma of the ampulla of Vater"
},
{
"code" : "306431",
"display" : "Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies"
},
{
"code" : "306504",
"display" : "Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome"
},
{
"code" : "306669",
"display" : "Hemiparkinsonism-hemiatrophy syndrome"
},
{
"code" : "306692",
"display" : "Cyanide-induced parkinsonism-dystonia"
},
{
"code" : "306776",
"display" : "Sporadic hyperekplexia"
},
{
"code" : "307766",
"display" : "Curly hair-acral keratoderma-caries syndrome"
},
{
"code" : "308638",
"display" : "Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form"
},
{
"code" : "309020",
"display" : "Familial apolipoprotein C-II deficiency"
},
{
"code" : "309192",
"display" : "Tay-Sachs disease, B variant, adult form"
},
{
"code" : "309246",
"display" : "GM2 gangliosidosis, AB variant"
},
{
"code" : "309297",
"display" : "Mucopolysaccharidosis type 4A"
},
{
"code" : "309310",
"display" : "Mucopolysaccharidosis type 4B"
},
{
"code" : "313795",
"display" : "Jawad syndrome"
},
{
"code" : "313855",
"display" : "FGFR2-related bent bone dysplasia"
},
{
"code" : "314597",
"display" : "Chudley-McCullough syndrome"
},
{
"code" : "314603",
"display" : "Autosomal recessive spastic ataxia with leukoencephalopathy"
},
{
"code" : "314613",
"display" : "Growing teratoma syndrome"
},
{
"code" : "314652",
"display" : "Variant ABeta2M amyloidosis"
},
{
"code" : "314662",
"display" : "Segmental progressive overgrowth syndrome with fibroadipose hyperplasia"
},
{
"code" : "314709",
"display" : "Primary localized amyloidosis"
},
{
"code" : "314721",
"display" : "Atypical dentin dysplasia due to SMOC2 deficiency"
},
{
"code" : "314786",
"display" : "Silent pituitary adenoma"
},
{
"code" : "314889",
"display" : "Autosomal dominant proximal renal tubular acidosis"
},
{
"code" : "314911",
"display" : "Severe Canavan disease"
},
{
"code" : "314962",
"display" : "Secondary hypereosinophilic syndrome"
},
{
"code" : "315311",
"display" : "Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form"
},
{
"code" : "317473",
"display" : "Pancytopenia due to IKZF1 mutations"
},
{
"code" : "319160",
"display" : "Congenital myopathy with internal nuclei and atypical cores"
},
{
"code" : "319171",
"display" : "Distal 17p13.1 microdeletion syndrome"
},
{
"code" : "319189",
"display" : "Familial cortical myoclonus"
},
{
"code" : "319199",
"display" : "Autosomal recessive spastic paraplegia type 53"
},
{
"code" : "319234",
"display" : "Venezuelan hemorrhagic fever"
},
{
"code" : "319303",
"display" : "Chromophobe renal cell carcinoma"
},
{
"code" : "319325",
"display" : "Tubulocystic renal cell carcinoma"
},
{
"code" : "319514",
"display" : "Combined oxidative phosphorylation defect type 13"
},
{
"code" : "319563",
"display" : "Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency"
},
{
"code" : "319581",
"display" : "Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency"
},
{
"code" : "319612",
"display" : "X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency"
},
{
"code" : "319623",
"display" : "X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency"
},
{
"code" : "324561",
"display" : "Hypopigmentation-punctate palmoplantar keratoderma syndrome"
},
{
"code" : "324581",
"display" : "Benign Samaritan congenital myopathy"
},
{
"code" : "324601",
"display" : "X-linked cleft palate and ankyloglossia"
},
{
"code" : "324703",
"display" : "ABetaL34V amyloidosis"
},
{
"code" : "325448",
"display" : "Leydig cell hypoplasia due to LHB deficiency"
},
{
"code" : "325524",
"display" : "Classic congenital lipoid adrenal hyperplasia due to STAR deficency"
},
{
"code" : "329336",
"display" : "Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy"
},
{
"code" : "329894",
"display" : "Juvenile overlap myositis"
},
{
"code" : "330058",
"display" : "Hydroa vacciniforme"
},
{
"code" : "352479",
"display" : "ISPD-related limb-girdle muscular dystrophy R20"
},
{
"code" : "352490",
"display" : "Autism spectrum disorder due to AUTS2 deficiency"
},
{
"code" : "352712",
"display" : "Facial dysmorphism-immunodeficiency-livedo-short stature syndrome"
},
{
"code" : "352734",
"display" : "Minimal pigment oculocutaneous albinism type 1"
},
{
"code" : "353334",
"display" : "Congenital retinal arteriovenous communication"
},
{
"code" : "356978",
"display" : "D,L-2-hydroxyglutaric aciduria"
},
{
"code" : "357225",
"display" : "Primary non-essential cutis verticis gyrata"
},
{
"code" : "363432",
"display" : "Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency"
},
{
"code" : "363454",
"display" : "BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy"
},
{
"code" : "363528",
"display" : "Intellectual disability-strabismus syndrome"
},
{
"code" : "363611",
"display" : "CTCF-related neurodevelopmental disorder"
},
{
"code" : "363654",
"display" : "X-linked parkinsonism-spasticity syndrome"
},
{
"code" : "363665",
"display" : "Acroosteolysis-keloid-like lesions-premature aging syndrome"
},
{
"code" : "363710",
"display" : "Spinocerebellar ataxia type 37"
},
{
"code" : "363746",
"display" : "Balint syndrome"
},
{
"code" : "363958",
"display" : "17q21.31 microdeletion syndrome"
},
{
"code" : "364577",
"display" : "Intellectual disability-brachydactyly-Pierre Robin syndrome"
},
{
"code" : "369873",
"display" : "Obesity due to SIM1 deficiency"
},
{
"code" : "369992",
"display" : "Severe dermatitis-multiple allergies-metabolic wasting syndrome"
},
{
"code" : "370002",
"display" : "Focal palmoplantar keratoderma with joint keratoses"
},
{
"code" : "370034",
"display" : "Familial syringomyelia"
},
{
"code" : "370980",
"display" : "Congenital muscular dystrophy without intellectual disability"
},
{
"code" : "391366",
"display" : "Growth retardation-mild developmental delay-chronic hepatitis syndrome"
},
{
"code" : "391411",
"display" : "Atypical juvenile parkinsonism"
},
{
"code" : "391490",
"display" : "Adult-onset myasthenia gravis"
},
{
"code" : "391504",
"display" : "Transient neonatal myasthenia gravis"
},
{
"code" : "391651",
"display" : "Glomus tumor"
},
{
"code" : "394532",
"display" : "Multiple acyl-CoA dehydrogenase deficiency, mild type"
},
{
"code" : "397587",
"display" : "Deep dermatophytosis"
},
{
"code" : "397593",
"display" : "Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency"
},
{
"code" : "397615",
"display" : "Obesity due to CEP19 deficiency"
},
{
"code" : "397618",
"display" : "Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome"
},
{
"code" : "397946",
"display" : "Autosomal spastic paraplegia type 58"
},
{
"code" : "398058",
"display" : "Squamous cell carcinoma of the penis"
},
{
"code" : "398147",
"display" : "Persistent idiopathic facial pain"
},
{
"code" : "398987",
"display" : "Malignant teratoma of ovary"
},
{
"code" : "399175",
"display" : "Traumatic avascular necrosis"
},
{
"code" : "399808",
"display" : "Male infertility with teratozoospermia due to single gene mutation"
},
{
"code" : "401764",
"display" : "Pancytopenia-developmental delay syndrome"
},
{
"code" : "401780",
"display" : "Autosomal recessive spastic paraplegia type 61"
},
{
"code" : "401840",
"display" : "Autosomal recessive spastic paraplegia type 71"
},
{
"code" : "401911",
"display" : "AXIN2-related attenuated familial adenomatous polyposis"
},
{
"code" : "401920",
"display" : "Fibrolamellar hepatocellular carcinoma"
},
{
"code" : "401945",
"display" : "Moyamoya disease with early-onset achalasia"
},
{
"code" : "402823",
"display" : "Hepatitis delta"
},
{
"code" : "404437",
"display" : "Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome"
},
{
"code" : "404448",
"display" : "ADNP syndrome"
},
{
"code" : "404521",
"display" : "Spinal muscular atrophy with respiratory distress type 2"
},
{
"code" : "404546",
"display" : "DITRA"
},
{
"code" : "411641",
"display" : "Ocular cystinosis"
},
{
"code" : "411696",
"display" : "Proton-pump inhibitor-responsive esophageal eosinophilia"
},
{
"code" : "411709",
"display" : "Renal agenesis"
},
{
"code" : "411986",
"display" : "Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome"
},
{
"code" : "412057",
"display" : "Autosomal recessive cerebellar ataxia due to STUB1 deficiency"
},
{
"code" : "412217",
"display" : "Dystonia-aphonia syndrome"
},
{
"code" : "418951",
"display" : "Undifferentiated carcinoma of esophagus"
},
{
"code" : "420702",
"display" : "Autosomal recessive severe congenital neutropenia due to CSF3R deficiency"
},
{
"code" : "423384",
"display" : "Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency"
},
{
"code" : "423461",
"display" : "Mucolipidosis type III alpha/beta"
},
{
"code" : "424073",
"display" : "Serous cystadenocarcinoma of pancreas"
},
{
"code" : "424099",
"display" : "Colobomatous microphthalmia-rhizomelic dysplasia syndrome"
},
{
"code" : "435387",
"display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2Y"
},
{
"code" : "435819",
"display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation"
},
{
"code" : "436166",
"display" : "Periodic fever-infantile enterocolitis-autoinflammatory syndrome"
},
{
"code" : "436274",
"display" : "Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa"
},
{
"code" : "438207",
"display" : "Severe autosomal recessive macrothrombocytopenia"
},
{
"code" : "438266",
"display" : "Progressive encephalomyelitis with rigidity and myoclonus"
},
{
"code" : "439196",
"display" : "Zinc-responsive necrolytic acral erythema"
},
{
"code" : "439218",
"display" : "KCNQ2-related epileptic encephalopathy"
},
{
"code" : "440233",
"display" : "Congenital abducens nerve palsy"
},
{
"code" : "441447",
"display" : "Early-onset posterior subcapsular cataract"
},
{
"code" : "444013",
"display" : "Combined oxidative phosphorylation defect type 23"
},
{
"code" : "444092",
"display" : "Autoimmune interstitial lung disease-arthritis syndrome"
},
{
"code" : "445062",
"display" : "Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome"
},
{
"code" : "445110",
"display" : "Limb-girdle muscular dystrophy due to POMK deficiency"
},
{
"code" : "447961",
"display" : "Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome"
},
{
"code" : "448251",
"display" : "Progressive autosomal recessive ataxia-deafness syndrome"
},
{
"code" : "449285",
"display" : "Snakebite envenomation"
},
{
"code" : "449400",
"display" : "IgG4-related aortitis"
},
{
"code" : "450322",
"display" : "Polyclonal hyperviscosity syndrome"
},
{
"code" : "454723",
"display" : "Endometrioid carcinoma of ovary"
},
{
"code" : "454750",
"display" : "Isolated tracheoesophageal fistula"
},
{
"code" : "29",
"display" : "Mevalonic aciduria"
},
{
"code" : "39",
"display" : "Acromelanosis"
},
{
"code" : "43",
"display" : "X-linked adrenoleukodystrophy"
},
{
"code" : "45",
"display" : "Adenosine monophosphate deaminase deficiency"
},
{
"code" : "46",
"display" : "Adenylosuccinate lyase deficiency"
},
{
"code" : "47",
"display" : "X-linked agammaglobulinemia"
},
{
"code" : "56",
"display" : "Alkaptonuria"
},
{
"code" : "63",
"display" : "Alport syndrome"
},
{
"code" : "70",
"display" : "Proximal spinal muscular atrophy"
},
{
"code" : "83",
"display" : "Antley-Bixler syndrome"
},
{
"code" : "87",
"display" : "Apert syndrome"
},
{
"code" : "109",
"display" : "Bannayan-Riley-Ruvalcaba syndrome"
},
{
"code" : "111",
"display" : "Barth syndrome"
},
{
"code" : "115",
"display" : "Congenital contractural arachnodactyly"
},
{
"code" : "142",
"display" : "Anaplastic thyroid carcinoma"
},
{
"code" : "456318",
"display" : "Hereditary sensory neuropathy-deafness-dementia syndrome"
},
{
"code" : "457050",
"display" : "Autosomal dominant mitochondrial myopathy with exercise intolerance"
},
{
"code" : "457212",
"display" : "Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome"
},
{
"code" : "458718",
"display" : "Idiopathic spontaneous coronary artery dissection"
},
{
"code" : "458785",
"display" : "Partially involuting congenital hemangioma"
},
{
"code" : "459051",
"display" : "Spondyloepiphyseal dysplasia, Stanescu type"
},
{
"code" : "464738",
"display" : "Basel-Vanagaite-Smirin-Yosef syndrome"
},
{
"code" : "466026",
"display" : "Class I glucose-6-phosphate dehydrogenase deficiency"
},
{
"code" : "466926",
"display" : "Seizures-scoliosis-macrocephaly syndrome"
},
{
"code" : "466934",
"display" : "VPS11-related autosomal recessive hypomyelinating leukodystrophy"
},
{
"code" : "468641",
"display" : "Chronic enteropathy associated with SLCO2A1 gene"
},
{
"code" : "468678",
"display" : "White-Sutton syndrome"
},
{
"code" : "476113",
"display" : "Combined immunodeficiency due to TFRC deficiency"
},
{
"code" : "476126",
"display" : "Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome"
},
{
"code" : "477749",
"display" : "Pontine autosomal dominant microangiopathy with leukoencephalopathy"
},
{
"code" : "480491",
"display" : "MYO5B-related progressive familial intrahepatic cholestasis"
},
{
"code" : "482601",
"display" : "Adenylosuccinate synthetase-like 1-related distal myopathy"
},
{
"code" : "494451",
"display" : "Vulvar basal cell carcinoma"
},
{
"code" : "494454",
"display" : "Vulvar adenocarcinoma"
},
{
"code" : "494550",
"display" : "Squamous cell carcinoma of the larynx"
},
{
"code" : "495274",
"display" : "Charcot-Marie-Tooth disease type 2T"
},
{
"code" : "495879",
"display" : "Congenital agenesis of the scrotum"
},
{
"code" : "496686",
"display" : "Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome"
},
{
"code" : "498497",
"display" : "Short rib-polydactyly syndrome type 5"
},
{
"code" : "499085",
"display" : "Chronic relapsing inflammatory optic neuropathy"
},
{
"code" : "499103",
"display" : "Recurrent idiopathic neuroretinitis"
},
{
"code" : "500135",
"display" : "Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome"
},
{
"code" : "500144",
"display" : "Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome"
},
{
"code" : "502423",
"display" : "Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome"
},
{
"code" : "502430",
"display" : "Metopic ridging-ptosis-facial dysmorphism syndrome"
},
{
"code" : "505395",
"display" : "Ventilator-induced diaphragmatic dysfunction"
},
{
"code" : "506090",
"display" : "Serotonin-producing neuroendocrine tumor of pancreas"
},
{
"code" : "506358",
"display" : "Gabriele-de Vries syndrome"
},
{
"code" : "519388",
"display" : "Autosomal recessive anterior segment dysgenesis"
},
{
"code" : "519404",
"display" : "Optic disc pit"
},
{
"code" : "521258",
"display" : "Xq25 microduplication syndrome"
},
{
"code" : "521426",
"display" : "PLAA-associated neurodevelopmental disorder"
},
{
"code" : "521450",
"display" : "LAMA5-related multisystemic syndrome"
},
{
"code" : "522037",
"display" : "Primary autoimmune enteropathy"
},
{
"code" : "529977",
"display" : "Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome"
},
{
"code" : "530838",
"display" : "KRT1-related diffuse nonepidermolytic keratoderma"
},
{
"code" : "530983",
"display" : "Lamb-Shaffer syndrome"
},
{
"code" : "535453",
"display" : "Familial lipase maturation factor 1 deficiency"
},
{
"code" : "536471",
"display" : "Spondylodysplastic Ehlers-Danlos syndrome"
},
{
"code" : "538934",
"display" : "X-linked lymphoproliferative disease due to XIAP deficiency"
},
{
"code" : "542310",
"display" : "Leukoencephalopathy with calcifications and cysts"
},
{
"code" : "542592",
"display" : "Necrobiosis lipoidica"
},
{
"code" : "542657",
"display" : "Isolated hyperchlorhidrosis"
},
{
"code" : "544482",
"display" : "Infection-related hemolytic uremic syndrome"
},
{
"code" : "544488",
"display" : "Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome"
},
{
"code" : "544503",
"display" : "RNF13-related severe early-onset epileptic encephalopathy"
},
{
"code" : "555877",
"display" : "FLNA-related X-linked myxomatous valvular dysplasia"
},
{
"code" : "561854",
"display" : "FOXG1 syndrome"
},
{
"code" : "562509",
"display" : "Heme oxygenase-1 deficiency"
},
{
"code" : "562559",
"display" : "Anterior maxillary protrusion-strabismus-intellectual disability syndrome"
},
{
"code" : "562569",
"display" : "TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome"
},
{
"code" : "563690",
"display" : "Furuncular myiasis due to Cordylobia rodhaini"
},
{
"code" : "145",
"display" : "Hereditary breast and/or ovarian cancer syndrome"
},
{
"code" : "154",
"display" : "Familial isolated dilated cardiomyopathy"
},
{
"code" : "169",
"display" : "Ringed hair disease"
},
{
"code" : "170",
"display" : "Woolly hair"
},
{
"code" : "173",
"display" : "Cholera"
},
{
"code" : "185",
"display" : "Scimitar syndrome"
},
{
"code" : "186",
"display" : "Primary biliary cholangitis"
},
{
"code" : "195",
"display" : "Cat-eye syndrome"
},
{
"code" : "235",
"display" : "Dubowitz syndrome"
},
{
"code" : "249",
"display" : "Fibrous dysplasia of bone"
},
{
"code" : "280",
"display" : "Wolf-Hirschhorn syndrome"
},
{
"code" : "295",
"display" : "Fetal parvovirus syndrome"
},
{
"code" : "297",
"display" : "Tick-borne encephalitis"
},
{
"code" : "302",
"display" : "Epidermodysplasia verruciformis"
},
{
"code" : "317",
"display" : "Erythrokeratodermia variabilis"
},
{
"code" : "330",
"display" : "Congenital factor XII deficiency"
},
{
"code" : "335",
"display" : "Congenital fibrinogen deficiency"
},
{
"code" : "342",
"display" : "Familial Mediterranean fever"
},
{
"code" : "343",
"display" : "Hyperimmunoglobulinemia D with periodic fever"
},
{
"code" : "348",
"display" : "Fructose-1,6-bisphosphatase deficiency"
},
{
"code" : "349",
"display" : "Fucosidosis"
},
{
"code" : "366",
"display" : "Glycogen storage disease due to glycogen debranching enzyme deficiency"
},
{
"code" : "368",
"display" : "Glycogen storage disease due to muscle glycogen phosphorylase deficiency"
},
{
"code" : "371",
"display" : "Glycogen storage disease due to muscle phosphofructokinase deficiency"
},
{
"code" : "386",
"display" : "Hepatic cystic hamartoma"
},
{
"code" : "392",
"display" : "Holt-Oram syndrome"
},
{
"code" : "401",
"display" : "Hymenolepiasis"
},
{
"code" : "404",
"display" : "Familial hyperaldosteronism type II"
},
{
"code" : "405",
"display" : "Familial hypocalciuric hypercalcemia"
},
{
"code" : "416",
"display" : "Primary hyperoxaluria"
},
{
"code" : "422",
"display" : "Idiopathic/heritable pulmonary arterial hypertension"
},
{
"code" : "429",
"display" : "Hypochondroplasia"
},
{
"code" : "465",
"display" : "Congenital plasminogen activator inhibitor type 1 deficiency"
},
{
"code" : "469",
"display" : "Hereditary fructose intolerance"
},
{
"code" : "486",
"display" : "Autosomal dominant severe congenital neutropenia"
},
{
"code" : "490",
"display" : "Omphalomesenteric cyst"
},
{
"code" : "502",
"display" : "Trichorhinophalangeal syndrome type 2"
},
{
"code" : "510",
"display" : "Lesch-Nyhan syndrome"
},
{
"code" : "537",
"display" : "Toxic epidermal necrolysis"
},
{
"code" : "558",
"display" : "Marfan syndrome"
},
{
"code" : "560",
"display" : "Marshall syndrome"
},
{
"code" : "561",
"display" : "Marshall-Smith syndrome"
},
{
"code" : "572",
"display" : "Immunodeficiency by defective expression of MHC class II"
},
{
"code" : "577",
"display" : "Mucolipidosis type III"
},
{
"code" : "587",
"display" : "Muir-Torre syndrome"
},
{
"code" : "589",
"display" : "Myasthenia gravis"
},
{
"code" : "592",
"display" : "Macrophagic myofasciitis"
},
{
"code" : "600",
"display" : "Vocal cord and pharyngeal distal myopathy"
},
{
"code" : "602",
"display" : "GNE myopathy"
},
{
"code" : "609",
"display" : "Tibial muscular dystrophy"
},
{
"code" : "611",
"display" : "Inclusion body myositis"
},
{
"code" : "621",
"display" : "Hereditary methemoglobinemia"
},
{
"code" : "629",
"display" : "Short stature due to growth hormone qualitative anomaly"
},
{
"code" : "643",
"display" : "Giant axonal neuropathy"
},
{
"code" : "650",
"display" : "LCAT deficiency"
},
{
"code" : "654",
"display" : "Nephroblastoma"
},
{
"code" : "661",
"display" : "Congenital central hypoventilation syndrome"
},
{
"code" : "667",
"display" : "Autosomal recessive malignant osteopetrosis"
},
{
"code" : "701",
"display" : "Alopecia universalis"
},
{
"code" : "716",
"display" : "Phenylketonuria"
},
{
"code" : "727",
"display" : "Microscopic polyangiitis"
},
{
"code" : "735",
"display" : "Porokeratosis of Mibelli"
},
{
"code" : "741",
"display" : "Familial mitral valve prolapse"
},
{
"code" : "566393",
"display" : "Acute mast cell leukemia"
},
{
"code" : "566847",
"display" : "Aprosencephaly/atelencephaly spectrum"
},
{
"code" : "566852",
"display" : "Atelencephaly"
},
{
"code" : "567502",
"display" : "B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome"
},
{
"code" : "567552",
"display" : "Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy"
},
{
"code" : "569290",
"display" : "Multiple mitochondrial dysfunctions syndrome type 6"
},
{
"code" : "572385",
"display" : "Brachydactyly type B1"
},
{
"code" : "576278",
"display" : "SATB2-associated syndrome"
},
{
"code" : "580572",
"display" : "Intraductal tubulopapillary neoplasm of pancreas"
},
{
"code" : "580940",
"display" : "QRICH1-related intellectual disability-chondrodysplasia syndrome"
},
{
"code" : "580951",
"display" : "Punctate inner choroidopathy"
},
{
"code" : "583612",
"display" : "Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency"
},
{
"code" : "585877",
"display" : "B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality"
},
{
"code" : "585956",
"display" : "B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)"
},
{
"code" : "589522",
"display" : "Spinocerebellar ataxia type 46"
},
{
"code" : "589595",
"display" : "Mixed phenotype acute leukemia with t(v;11q23.3)"
},
{
"code" : "592894",
"display" : "Acute disseminated encephalomyelitis with anti-MOG antibodies"
},
{
"code" : "596448",
"display" : "IgG4-related systemic disease"
},
{
"code" : "596937",
"display" : "Portosinusoidal vascular disease"
},
{
"code" : "596941",
"display" : "Incomplete septal cirrhosis"
},
{
"code" : "597623",
"display" : "IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome"
},
{
"code" : "597939",
"display" : "Euthyroid dysprealbuminemic hyperthyroxinemia"
},
{
"code" : "600731",
"display" : "Clark-Baraitser syndrome"
},
{
"code" : "601013",
"display" : "Non-syndromic anorectal malformation with pouch colon"
},
{
"code" : "611216",
"display" : "Aplastic anemia-intellectual disability-dwarfism syndrome"
},
{
"code" : "611223",
"display" : "EN1-related dorsoventral syndrome"
},
{
"code" : "613267",
"display" : "Pontocerebellar hypoplasia type 13"
},
{
"code" : "615983",
"display" : "Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation"
},
{
"code" : "617301",
"display" : "Selective intrauterine growth restriction"
},
{
"code" : "619948",
"display" : "Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome"
},
{
"code" : "619972",
"display" : "CADINS disease"
},
{
"code" : "620113",
"display" : "Non-syndromic unilambdoid craniosynostosis"
},
{
"code" : "620205",
"display" : "Non-syndromic bicoronal and sagittal craniosynostosis"
},
{
"code" : "620212",
"display" : "Non-syndromic pansynostosis"
},
{
"code" : "623626",
"display" : "Paraneoplastic cerebellar degeneration"
},
{
"code" : "624178",
"display" : "Non-specific autoimmune supratentorial encephalitis without characteristic antibodies"
},
{
"code" : "624268",
"display" : "Non-specific autoimmune cerebellar ataxia without characteristic antibodies"
},
{
"code" : "631248",
"display" : "Mitchell Syndrome"
},
{
"code" : "633024",
"display" : "SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome"
},
{
"code" : "641350",
"display" : "Immunotherapy induced hypophysitis"
},
{
"code" : "641829",
"display" : "Neonatal compartment syndrome"
},
{
"code" : "645188",
"display" : "Spinal dermal sinus"
},
{
"code" : "645310",
"display" : "Fibroneural non-saccular limited dorsal myeloschisis"
},
{
"code" : "645350",
"display" : "Segmental arterial mediolysis"
},
{
"code" : "645383",
"display" : "True myelomeningocele"
},
{
"code" : "645854",
"display" : "Multifocal tuberculosis"
},
{
"code" : "647815",
"display" : "Keratoendotheliitis fugax hereditaria"
},
{
"code" : "649029",
"display" : "Isolated left bronchial isomerism"
},
{
"code" : "650097",
"display" : "Genetic central precocious puberty in male"
},
{
"code" : "778",
"display" : "Rett syndrome"
},
{
"code" : "791",
"display" : "Retinitis pigmentosa"
},
{
"code" : "819",
"display" : "Smith-Magenis syndrome"
},
{
"code" : "826",
"display" : "Sporotrichosis"
},
{
"code" : "828",
"display" : "Stickler syndrome"
},
{
"code" : "834",
"display" : "Free sialic acid storage disease"
},
{
"code" : "881",
"display" : "Turner syndrome"
},
{
"code" : "897",
"display" : "Waardenburg-Shah syndrome"
},
{
"code" : "906",
"display" : "Wiskott-Aldrich syndrome"
},
{
"code" : "950",
"display" : "Acrodysostosis"
},
{
"code" : "984",
"display" : "Pulmonary agenesis"
},
{
"code" : "994",
"display" : "Fetal akinesia deformation sequence"
},
{
"code" : "999",
"display" : "Ermine phenotype"
},
{
"code" : "1020",
"display" : "Early-onset autosomal dominant Alzheimer disease"
},
{
"code" : "1023",
"display" : "Congenital generalized hypertrichosis, Ambras type"
},
{
"code" : "1059",
"display" : "Blue rubber bleb nevus"
},
{
"code" : "1083",
"display" : "Microlissencephaly"
},
{
"code" : "1084",
"display" : "Isolated lissencephaly type 1 without known genetic defects"
},
{
"code" : "1144",
"display" : "Arthrogryposis-like hand anomaly-sensorineural deafness syndrome"
},
{
"code" : "1202",
"display" : "Larynx atresia"
},
{
"code" : "1226",
"display" : "Bamforth-Lazarus syndrome"
},
{
"code" : "1229",
"display" : "Congenital intrauterine infection-like syndrome"
},
{
"code" : "1248",
"display" : "Maxillonasal dysplasia"
},
{
"code" : "1262",
"display" : "Böök syndrome"
},
{
"code" : "1267",
"display" : "Botulism"
},
{
"code" : "1277",
"display" : "Brachydactyly-mesomelia-intellectual disability-heart defects syndrome"
},
{
"code" : "1305",
"display" : "Feingold syndrome"
},
{
"code" : "1307",
"display" : "Distal limb deficiencies-micrognathia syndrome"
},
{
"code" : "1318",
"display" : "Campomelia, Cumming type"
},
{
"code" : "1340",
"display" : "Cardiofaciocutaneous syndrome"
},
{
"code" : "1345",
"display" : "Cardiomyopathy-cataract-hip spine disease syndrome"
},
{
"code" : "1354",
"display" : "Heart defects-limb shortening syndrome"
},
{
"code" : "1383",
"display" : "Cataract-deafness-hypogonadism syndrome"
},
{
"code" : "1390",
"display" : "Night blindness-skeletal anomalies-dysmorphism syndrome"
},
{
"code" : "1394",
"display" : "Cerebrofaciothoracic dysplasia"
},
{
"code" : "1416",
"display" : "Familial calcium pyrophosphate deposition"
},
{
"code" : "1444",
"display" : "Ring chromosome 20 syndrome"
},
{
"code" : "1449",
"display" : "Ring chromosome 7 syndrome"
},
{
"code" : "1459",
"display" : "Celiac disease-epilepsy-cerebral calcification syndrome"
},
{
"code" : "1465",
"display" : "Coffin-Siris syndrome"
},
{
"code" : "1484",
"display" : "Contractures-ectodermal dysplasia-cleft lip/palate syndrome"
},
{
"code" : "1489",
"display" : "Whooping cough"
},
{
"code" : "1509",
"display" : "Coxopodopatellar syndrome"
},
{
"code" : "1519",
"display" : "SPECC1L-related hypertelorism syndrome"
},
{
"code" : "1521",
"display" : "Craniofrontonasal dysplasia-Poland anomaly syndrome"
},
{
"code" : "1546",
"display" : "Cryptococcosis"
},
{
"code" : "1547",
"display" : "Cryptomicrotia-brachydactyly-excess fingertip arch syndrome"
},
{
"code" : "1560",
"display" : "Cysticercosis"
},
{
"code" : "1574",
"display" : "Retinal degeneration-nanophthalmos-glaucoma syndrome"
},
{
"code" : "1621",
"display" : "3q13 microdeletion syndrome"
},
{
"code" : "1658",
"display" : "Absence of fingerprints-congenital milia syndrome"
},
{
"code" : "1661",
"display" : "X-linked corneal dermoid"
},
{
"code" : "1665",
"display" : "Sporadic fetal brain disruption sequence"
},
{
"code" : "1676",
"display" : "Idiopathic pulmonary artery dilatation"
},
{
"code" : "1686",
"display" : "Cardiac diverticulum"
},
{
"code" : "1702",
"display" : "Non-distal duplication 13q"
},
{
"code" : "1703",
"display" : "Mosaic trisomy 14"
},
{
"code" : "1705",
"display" : "Distal duplication 14q"
},
{
"code" : "1738",
"display" : "Trisomy 4p"
},
{
"code" : "1745",
"display" : "Distal duplication 6p"
},
{
"code" : "1752",
"display" : "Trisomy 8q"
},
{
"code" : "1762",
"display" : "Proximal Xq28 duplication syndrome"
},
{
"code" : "1778",
"display" : "Facial dysmorphism-shawl scrotum-joint laxity syndrome"
},
{
"code" : "1784",
"display" : "Acrofrontofacionasal dysostosis"
},
{
"code" : "1787",
"display" : "Acrofacial dysostosis, Palagonia type"
},
{
"code" : "1794",
"display" : "Oculomaxillofacial dysostosis"
},
{
"code" : "1803",
"display" : "Thoracomelic dysplasia"
},
{
"code" : "1806",
"display" : "Ectodermal dysplasia-blindness syndrome"
},
{
"code" : "1810",
"display" : "Autosomal dominant hypohidrotic ectodermal dysplasia"
},
{
"code" : "1832",
"display" : "Lethal osteosclerotic bone dysplasia"
},
{
"code" : "1839",
"display" : "Hereditary mucoepithelial dysplasia"
},
{
"code" : "1856",
"display" : "Spondyloperipheral dysplasia-short ulna syndrome"
},
{
"code" : "1879",
"display" : "Melorheostosis with osteopoikilosis"
},
{
"code" : "1914",
"display" : "Vitamin K antagonist embryofetopathy"
},
{
"code" : "1927",
"display" : "Emery-Nelson syndrome"
},
{
"code" : "1943",
"display" : "Early-onset progressive encephalopathy with migrant continuous myoclonus"
},
{
"code" : "2016",
"display" : "Cleft palate-lateral synechia syndrome"
},
{
"code" : "2023",
"display" : "Undifferentiated pleomorphic sarcoma"
},
{
"code" : "2038",
"display" : "Pulmonary arteriovenous malformation"
},
{
"code" : "2044",
"display" : "Floating-Harbor syndrome"
},
{
"code" : "2057",
"display" : "Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome"
},
{
"code" : "2069",
"display" : "Gastrocutaneous syndrome"
},
{
"code" : "2075",
"display" : "Genitopalatocardiac syndrome"
},
{
"code" : "2077",
"display" : "German syndrome"
},
{
"code" : "2098",
"display" : "Acromesomelic dysplasia, Grebe type"
},
{
"code" : "2102",
"display" : "GTP cyclohydrolase I deficiency"
},
{
"code" : "2116",
"display" : "Hartnup disease"
},
{
"code" : "2122",
"display" : "Kaposiform hemangioendothelioma"
},
{
"code" : "2128",
"display" : "Isolated hemihyperplasia"
},
{
"code" : "2143",
"display" : "Donnai-Barrow syndrome"
},
{
"code" : "2169",
"display" : "Methylcobalamin deficiency type cblE"
},
{
"code" : "2177",
"display" : "Hydranencephaly"
},
{
"code" : "2211",
"display" : "Hypertelorism-hypospadias-polysyndactyly syndrome"
},
{
"code" : "2215",
"display" : "Multiple pterygium-malignant hyperthermia syndrome"
},
{
"code" : "2221",
"display" : "Acquired hypertrichosis lanuginosa"
},
{
"code" : "2232",
"display" : "Primary hypergonadotropic hypogonadism-partial alopecia syndrome"
},
{
"code" : "2233",
"display" : "Hypogonadism-mitral valve prolapse-intellectual disability syndrome"
},
{
"code" : "2248",
"display" : "Hypoplastic left heart syndrome"
},
{
"code" : "2251",
"display" : "Thumb deformity-alopecia-pigmentation anomaly syndrome"
},
{
"code" : "2255",
"display" : "Pancreatic hypoplasia-diabetes-congenital heart disease syndrome"
},
{
"code" : "2257",
"display" : "Primary pulmonary hypoplasia"
},
{
"code" : "2261",
"display" : "Hypospadias-intellectual disability, Goldblatt type syndrome"
},
{
"code" : "2268",
"display" : "ICF syndrome"
},
{
"code" : "2291",
"display" : "Congenital velopharyngeal incompetence"
},
{
"code" : "2309",
"display" : "Pachyonychia congenita"
},
{
"code" : "2310",
"display" : "Absence deformity of leg-cataract syndrome"
},
{
"code" : "2311",
"display" : "Autosomal recessive spondylocostal dysostosis"
},
{
"code" : "2319",
"display" : "Juberg-Hayward syndrome"
},
{
"code" : "2329",
"display" : "Karsch-Neugebauer syndrome"
},
{
"code" : "2340",
"display" : "Keratosis follicularis spinulosa decalvans"
},
{
"code" : "2345",
"display" : "Isolated Klippel-Feil syndrome"
},
{
"code" : "2363",
"display" : "Lacrimoauriculodentodigital syndrome"
},
{
"code" : "2374",
"display" : "Congenital laryngeal web"
},
{
"code" : "2387",
"display" : "Leukonychia totalis"
},
{
"code" : "2398",
"display" : "Multiple symmetric lipomatosis"
},
{
"code" : "2404",
"display" : "Loiasis"
},
{
"code" : "2430",
"display" : "Congenital macroglossia"
},
{
"code" : "2439",
"display" : "Patterson-Stevenson-Fontaine syndrome"
},
{
"code" : "2451",
"display" : "Mucocutaneous venous malformations"
},
{
"code" : "2461",
"display" : "Marden-Walker syndrome"
},
{
"code" : "2475",
"display" : "White forelock with malformations"
},
{
"code" : "2484",
"display" : "Melnick-Needles syndrome"
},
{
"code" : "2491",
"display" : "Müllerian duct anomalies-limb anomalies syndrome"
},
{
"code" : "2495",
"display" : "Meningioma"
},
{
"code" : "2498",
"display" : "Syndactyly type 8"
},
{
"code" : "2514",
"display" : "Autosomal dominant primary microcephaly"
},
{
"code" : "2516",
"display" : "Microcephaly-cardiac defect-lung malsegmentation syndrome"
},
{
"code" : "2522",
"display" : "Microcephaly-cervical spine fusion anomalies syndrome"
},
{
"code" : "2538",
"display" : "Microgastria-limb reduction defect syndrome"
},
{
"code" : "2549",
"display" : "Oculoauriculovertebral spectrum with radial defects"
},
{
"code" : "2571",
"display" : "X-linked immunoneurologic disorder"
},
{
"code" : "2572",
"display" : "Spastic ataxia-corneal dystrophy syndrome"
},
{
"code" : "2575",
"display" : "Cystic fibrosis-gastritis-megaloblastic anemia syndrome"
},
{
"code" : "2585",
"display" : "Ataxia-pancytopenia syndrome"
},
{
"code" : "2596",
"display" : "Myopathy and diabetes mellitus"
},
{
"code" : "2597",
"display" : "Mitochondrial myopathy-lactic acidosis-deafness syndrome"
},
{
"code" : "2658",
"display" : "Lenz-Majewski hyperostotic dwarfism"
},
{
"code" : "2666",
"display" : "Adult familial nephronophthisis-spastic quadriparesia syndrome"
},
{
"code" : "2697",
"display" : "Arthrogryposis-renal dysfunction-cholestasis syndrome"
},
{
"code" : "2700",
"display" : "Noma"
},
{
"code" : "2701",
"display" : "Noonan syndrome-like disorder with loose anagen hair"
},
{
"code" : "2710",
"display" : "Oculodentodigital dysplasia"
},
{
"code" : "2713",
"display" : "Oculoosteocutaneous syndrome"
},
{
"code" : "2719",
"display" : "Oculocerebral hypopigmentation syndrome, Cross type"
},
{
"code" : "2732",
"display" : "Olivopontocerebellar atrophy-deafness syndrome"
},
{
"code" : "2736",
"display" : "Lethal omphalocele-cleft palate syndrome"
},
{
"code" : "2746",
"display" : "Opsismodysplasia"
},
{
"code" : "2759",
"display" : "Imperforate oropharynx-costovertebral anomalies syndrome"
},
{
"code" : "2771",
"display" : "Bruck syndrome"
},
{
"code" : "2786",
"display" : "Osteoporosis-oculocutaneous hypopigmentation syndrome"
},
{
"code" : "2795",
"display" : "Fowler urethral sphincter dysfunction syndrome"
},
{
"code" : "2798",
"display" : "Pachygyria-intellectual disability-epilepsy syndrome"
},
{
"code" : "2820",
"display" : "Spastic paraplegia-nephritis-deafness syndrome"
},
{
"code" : "2822",
"display" : "Autosomal recessive spastic paraplegia type 11"
},
{
"code" : "2825",
"display" : "PARC syndrome"
},
{
"code" : "2841",
"display" : "Familial benign chronic pemphigus"
},
{
"code" : "2850",
"display" : "Alopecia-intellectual disability syndrome"
},
{
"code" : "2865",
"display" : "Short stature-webbed neck-heart disease syndrome"
},
{
"code" : "2871",
"display" : "Pfeiffer-Palm-Teller syndrome"
},
{
"code" : "2880",
"display" : "Phosphoenolpyruvate carboxykinase deficiency"
},
{
"code" : "2886",
"display" : "TARP syndrome"
},
{
"code" : "2889",
"display" : "Pili torti"
},
{
"code" : "2890",
"display" : "Pili torti-onychodysplasia syndrome"
},
{
"code" : "2901",
"display" : "Neuralgic amyotrophy"
},
{
"code" : "2903",
"display" : "Familial spontaneous pneumothorax"
},
{
"code" : "2919",
"display" : "Orofaciodigital syndrome type 5"
},
{
"code" : "2930",
"display" : "Cronkhite-Canada syndrome"
},
{
"code" : "2935",
"display" : "Crossed polysyndactyly"
},
{
"code" : "2946",
"display" : "Brachydactyly-long thumb syndrome"
},
{
"code" : "2965",
"display" : "Prolactinoma"
},
{
"code" : "2978",
"display" : "Chronic intestinal pseudoobstruction"
},
{
"code" : "2988",
"display" : "Pterygium colli-intellectual disability-digital anomalies syndrome"
},
{
"code" : "2990",
"display" : "Autosomal recessive multiple pterygium syndrome"
},
{
"code" : "3004",
"display" : "Mirror polydactyly-vertebral segmentation-limbs defects syndrome"
},
{
"code" : "3005",
"display" : "Pyle disease"
},
{
"code" : "3044",
"display" : "Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome"
},
{
"code" : "3047",
"display" : "Blepharophimosis-intellectual disability syndrome, SBBYS type"
},
{
"code" : "3085",
"display" : "Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome"
},
{
"code" : "3092",
"display" : "Fixed subaortic stenosis"
},
{
"code" : "3095",
"display" : "Atypical Rett syndrome"
},
{
"code" : "3121",
"display" : "Ruvalcaba syndrome"
},
{
"code" : "3137",
"display" : "Alpha-N-acetylgalactosaminidase deficiency"
},
{
"code" : "3172",
"display" : "Eyebrow duplication-syndactyly syndrome"
},
{
"code" : "3202",
"display" : "Dehydrated hereditary stomatocytosis"
},
{
"code" : "3219",
"display" : "Fountain syndrome"
},
{
"code" : "3230",
"display" : "Deafness-oligodontia syndrome"
},
{
"code" : "3248",
"display" : "Distal symphalangism"
},
{
"code" : "3255",
"display" : "Filippi syndrome"
},
{
"code" : "3275",
"display" : "Spondylocarpotarsal synostosis"
},
{
"code" : "3282",
"display" : "Multifocal atrial tachycardia"
},
{
"code" : "3291",
"display" : "Teebi-Shaltout syndrome"
},
{
"code" : "3301",
"display" : "Tetraamelia-multiple malformations syndrome"
},
{
"code" : "3304",
"display" : "Fallot complex-intellectual disability-growth delay syndrome"
},
{
"code" : "3341",
"display" : "Torticollis-keloids-cryptorchidism-renal dysplasia syndrome"
},
{
"code" : "3344",
"display" : "Weismann-Netter syndrome"
},
{
"code" : "3348",
"display" : "Tracheobronchopathia osteochondroplastica"
},
{
"code" : "3353",
"display" : "Trichodermodysplasia-dental alterations syndrome"
},
{
"code" : "3368",
"display" : "Trigonocephaly-bifid nose-acral anomalies syndrome"
},
{
"code" : "3378",
"display" : "Trisomy 13"
},
{
"code" : "251347",
"display" : "Ataxia-telangiectasia-like disorder"
},
{
"code" : "251643",
"display" : "Myxopapillary ependymoma"
},
{
"code" : "251671",
"display" : "Angiocentric glioma"
},
{
"code" : "251858",
"display" : "Medulloblastoma with extensive nodularity"
},
{
"code" : "251880",
"display" : "Ependymoblastoma"
},
{
"code" : "251909",
& "display" : "Oliver syndrome"
},
{
"code" : "2951",
"display" : "Absent thumb-short stature-immunodeficiency syndrome"
},
{
"code" : "2958",
"display" : "X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome"
},
{
"code" : "2962",
"display" : "De Barsy syndrome"
},
{
"code" : "2964",
"display" : "Autosomal dominant prognathism"
},
{
"code" : "2971",
"display" : "Peroxisomal acyl-CoA oxidase deficiency"
},
{
"code" : "2973",
"display" : "46,XX difference of sex development-anorectal anomalies syndrome"
},
{
"code" : "3000",
"display" : "Familial peripheral male-limited precocious puberty"
},
{
"code" : "3010",
"display" : "Qazi-Markouizos syndrome"
},
{
"code" : "3035",
"display" : "Growth delay-hydrocephaly-lung hypoplasia syndrome"
},
{
"code" : "3042",
"display" : "Intellectual disability-cataracts-calcified pinnae-myopathy syndrome"
},
{
"code" : "3063",
"display" : "X-linked intellectual disability, Snyder type"
},
{
"code" : "3078",
"display" : "Severe X-linked intellectual disability, Gustavson type"
},
{
"code" : "3093",
"display" : "Congenital aortic valve stenosis"
},
{
"code" : "3144",
"display" : "Schneckenbecken dysplasia"
},
{
"code" : "3152",
"display" : "Sclerosteosis"
},
{
"code" : "3162",
"display" : "Sézary syndrome"
},
{
"code" : "3163",
"display" : "SHORT syndrome"
},
{
"code" : "3175",
"display" : "X-linked spasticity-intellectual disability-epilepsy syndrome"
},
{
"code" : "3181",
"display" : "Sprengel deformity"
},
{
"code" : "3191",
"display" : "Subaortic stenosis-short stature syndrome"
},
{
"code" : "3196",
"display" : "Steroid dehydrogenase deficiency-dental anomalies syndrome"
},
{
"code" : "3205",
"display" : "Sturge-Weber syndrome"
},
{
"code" : "3222",
"display" : "Phosphoribosylpyrophosphate synthetase superactivity"
},
{
"code" : "3232",
"display" : "Deafness-ear malformation-facial palsy syndrome"
},
{
"code" : "3246",
"display" : "Symphalangism with multiple anomalies of hands and feet"
},
{
"code" : "3263",
"display" : "Syngnathia-cleft palate syndrome"
},
{
"code" : "3269",
"display" : "Congenital radioulnar synostosis"
},
{
"code" : "3270",
"display" : "Radioulnar synostosis-developmental delay-hypotonia syndrome"
},
{
"code" : "3293",
"display" : "Telecanthus-hypertelorism-strabismus-pes cavus syndrome"
},
{
"code" : "3312",
"display" : "Thalidomide embryopathy"
},
{
"code" : "3320",
"display" : "Thrombocytopenia-absent radius syndrome"
},
{
"code" : "3322",
"display" : "Hoyeraal-Hreidarsson syndrome"
},
{
"code" : "3346",
"display" : "Tracheal agenesis"
},
{
"code" : "3366",
"display" : "Non-syndromic metopic craniosynostosis"
},
{
"code" : "3383",
"display" : "Humerus trochlea aplasia"
},
{
"code" : "3404",
"display" : "Ulbright-Hodes syndrome"
},
{
"code" : "3406",
"display" : "Ulerythema ophryogenesis"
},
{
"code" : "3417",
"display" : "Van den Bosch syndrome"
},
{
"code" : "3426",
"display" : "Double outlet right ventricle"
},
{
"code" : "3448",
"display" : "Weaver-Williams syndrome"
},
{
"code" : "3451",
"display" : "Infantile spasms syndrome"
},
{
"code" : "3465",
"display" : "Worster-Drought syndrome"
},
{
"code" : "26106",
"display" : "Hereditary diffuse gastric cancer"
},
{
"code" : "26137",
"display" : "Juvenile temporal arteritis"
},
{
"code" : "29822",
"display" : "Spontaneous periodic hypothermia"
},
{
"code" : "30391",
"display" : "Isolated biliary atresia"
},
{
"code" : "31202",
"display" : "Melioidosis"
},
{
"code" : "31709",
"display" : "Infantile convulsions and choreoathetosis"
},
{
"code" : "31828",
"display" : "Digitalis poisoning"
},
{
"code" : "34587",
"display" : "Glycogen storage disease due to LAMP-2 deficiency"
},
{
"code" : "35063",
"display" : "Fulminant viral hepatitis"
},
{
"code" : "35120",
"display" : "Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency"
},
{
"code" : "35710",
"display" : "Glucose-galactose malabsorption"
},
{
"code" : "35737",
"display" : "Morning glory disc anomaly"
},
{
"code" : "36236",
"display" : "Staphylococcal scalded skin syndrome"
},
{
"code" : "36367",
"display" : "Distal deletion 1q"
},
{
"code" : "36382",
"display" : "Familial cervical artery dissection"
},
{
"code" : "36412",
"display" : "Hypocomplementemic urticarial vasculitis"
},
{
"code" : "36426",
"display" : "Stevens-Johnson syndrome"
},
{
"code" : "43116",
"display" : "Serotonin syndrome"
},
{
"code" : "45448",
"display" : "Miyoshi myopathy"
},
{
"code" : "46059",
"display" : "Lathosterolosis"
},
{
"code" : "46486",
"display" : "Mucous membrane pemphigoid"
},
{
"code" : "48104",
"display" : "Pyoderma gangrenosum"
},
{
"code" : "49382",
"display" : "Achromatopsia"
},
{
"code" : "50918",
"display" : "Kikuchi-Fujimoto disease"
},
{
"code" : "50945",
"display" : "Blomstrand lethal chondrodysplasia"
},
{
"code" : "51208",
"display" : "Formiminoglutamic aciduria"
},
{
"code" : "52429",
"display" : "Branchiootic syndrome"
},
{
"code" : "53347",
"display" : "Brody myopathy"
},
{
"code" : "53691",
"display" : "Congenital cornea plana"
},
{
"code" : "53693",
"display" : "GRACILE syndrome"
},
{
"code" : "53719",
"display" : "Wyburn-Mason syndrome"
},
{
"code" : "54251",
"display" : "Corticosteroid-sensitive aseptic abscess syndrome"
},
{
"code" : "59181",
"display" : "Sorsby pseudoinflammatory fundus dystrophy"
},
{
"code" : "60025",
"display" : "Pulmonary alveolar microlithiasis"
},
{
"code" : "60032",
"display" : "Recurrent respiratory papillomatosis"
},
{
"code" : "63446",
"display" : "Acrocapitofemoral dysplasia"
},
{
"code" : "64686",
"display" : "Tolosa-Hunt syndrome"
},
{
"code" : "64741",
"display" : "Pulmonary blastoma"
},
{
"code" : "64742",
"display" : "Pleuropulmonary blastoma"
},
{
"code" : "64752",
"display" : "Hereditary sensory and autonomic neuropathy type 5"
},
{
"code" : "65283",
"display" : "Timothy syndrome"
},
{
"code" : "65684",
"display" : "Monomelic amyotrophy"
},
{
"code" : "65748",
"display" : "Multiple self-healing squamous epithelioma"
},
{
"code" : "65759",
"display" : "Carpenter syndrome"
},
{
"code" : "66628",
"display" : "Obesity due to congenital leptin deficiency"
},
{
"code" : "67046",
"display" : "3-methylglutaconic aciduria type 1"
},
{
"code" : "69063",
"display" : "Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization"
},
{
"code" : "69077",
"display" : "Rhabdoid tumor"
},
{
"code" : "70594",
"display" : "Dopa-responsive dystonia due to sepiapterin reductase deficiency"
},
{
"code" : "71211",
"display" : "Neuromyelitis optica spectrum disorder"
},
{
"code" : "71272",
"display" : "Sandifer syndrome"
},
{
"code" : "71528",
"display" : "Obesity due to prohormone convertase I deficiency"
},
{
"code" : "73223",
"display" : "Global developmental delay-osteopenia-ectodermal defect syndrome"
},
{
"code" : "73260",
"display" : "Paracoccidioidomycosis"
},
{
"code" : "73263",
"display" : "Zygomycosis"
},
{
"code" : "73272",
"display" : "Growth delay due to insulin-like growth factor type 1 deficiency"
},
{
"code" : "73273",
"display" : "Growth delay due to insulin-like growth factor I resistance"
},
{
"code" : "75234",
"display" : "Cholesteryl ester storage disease"
},
{
"code" : "75325",
"display" : "Osteosclerosis-ichthyosis-premature ovarian failure syndrome"
},
{
"code" : "75373",
"display" : "Progressive bifocal chorioretinal atrophy"
},
{
"code" : "75392",
"display" : "Periodontal Ehlers-Danlos syndrome"
},
{
"code" : "77258",
"display" : "Trichorhinophalangeal syndrome type 1"
},
{
"code" : "77260",
"display" : "Gaucher disease type 2"
},
{
"code" : "77293",
"display" : "Chronic visceral acid sphingomyelinase deficiency"
},
{
"code" : "79078",
"display" : "IgG4-related dacryoadenitis and sialadenitis"
},
{
"code" : "79094",
"display" : "Grange syndrome"
},
{
"code" : "79107",
"display" : "Developmental malformations-deafness-dystonia syndrome"
},
{
"code" : "79134",
"display" : "DEND syndrome"
},
{
"code" : "79148",
"display" : "Elastosis perforans serpiginosa"
},
{
"code" : "79233",
"display" : "Hypoxanthine guanine phosphoribosyltransferase partial deficiency"
},
{
"code" : "79240",
"display" : "Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency"
},
{
"code" : "79277",
"display" : "Congenital erythropoietic porphyria"
},
{
"code" : "79280",
"display" : "Alpha-N-acetylgalactosaminidase deficiency type 2"
},
{
"code" : "79310",
"display" : "Vitamin B12-responsive methylmalonic acidemia type cblA"
},
{
"code" : "79320",
"display" : "ALG6-CDG"
},
{
"code" : "79327",
"display" : "ALG1-CDG"
},
{
"code" : "79329",
"display" : "MGAT2-CDG"
},
{
"code" : "79403",
"display" : "Junctional epidermolysis bullosa with pyloric atresia"
},
{
"code" : "79434",
"display" : "Oculocutaneous albinism type 1B"
},
{
"code" : "79467",
"display" : "Verrucous nevus"
},
{
"code" : "79484",
"display" : "Phakomatosis cesiomarmorata"
},
{
"code" : "79495",
"display" : "X-linked congenital generalized hypertrichosis"
},
{
"code" : "79501",
"display" : "Punctate palmoplantar keratoderma type 1"
},
{
"code" : "79651",
"display" : "Mild hyperphenylalaninemia"
},
{
"code" : "79665",
"display" : "Gardner syndrome"
},
{
"code" : "83313",
"display" : "Boutonneuse fever"
},
{
"code" : "83314",
"display" : "Epidemic typhus"
},
{
"code" : "83330",
"display" : "Proximal spinal muscular atrophy type 1"
},
{
"code" : "83418",
"display" : "Proximal spinal muscular atrophy type 2"
},
{
"code" : "83476",
"display" : "West-Nile encephalitis"
},
{
"code" : "83601",
"display" : "Steroid-responsive encephalopathy associated with autoimmune thyroiditis"
},
{
"code" : "83616",
"display" : "Rubella panencephalitis"
},
{
"code" : "85136",
"display" : "Cystic leukoencephalopathy without megalencephaly"
},
{
"code" : "85173",
"display" : "IMAGe syndrome"
},
{
"code" : "85175",
"display" : "Astley-Kendall dysplasia"
},
{
"code" : "85200",
"display" : "Ischiovertebral syndrome"
},
{
"code" : "85278",
"display" : "Christianson syndrome"
},
{
"code" : "85279",
"display" : "KDM5C-related syndromic X-linked intellectual disability"
},
{
"code" : "85280",
"display" : "X-linked intellectual disability-cubitus valgus-dysmorphism syndrome"
},
{
"code" : "85436",
"display" : "Psoriasis-related juvenile idiopathic arthritis"
},
{
"code" : "85446",
"display" : "Wild type ABeta2M amyloidosis"
},
{
"code" : "85447",
"display" : "ATTRV30M amyloidosis"
},
{
"code" : "86815",
"display" : "Aplasia of lacrimal and salivary glands"
},
{
"code" : "86822",
"display" : "Lissencephaly type 3-metacarpal bone dysplasia syndrome"
},
{
"code" : "86855",
"display" : "Plasmacytoma"
},
{
"code" : "86880",
"display" : "Enteropathy-associated T-cell lymphoma"
},
{
"code" : "86884",
"display" : "Subcutaneous panniculitis-like T-cell lymphoma"
},
{
"code" : "86902",
"display" : "Follicular dendritic cell sarcoma"
},
{
"code" : "86913",
"display" : "Myoclonic epilepsy in non-progressive encephalopathies"
},
{
"code" : "86918",
"display" : "Diffuse palmoplantar keratoderma-acrocyanosis syndrome"
},
{
"code" : "87884",
"display" : "Non-syndromic genetic deafness"
},
{
"code" : "88637",
"display" : "Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome"
},
{
"code" : "88917",
"display" : "X-linked Alport syndrome"
},
{
"code" : "89838",
"display" : "Autosomal recessive generalized epidermolysis bullosa simplex"
},
{
"code" : "89936",
"display" : "X-linked hypophosphatemia"
},
{
"code" : "90003",
"display" : "Inflammatory pseudotumor of the liver"
},
{
"code" : "90044",
"display" : "Familial pseudohyperkalemia"
},
{
"code" : "90045",
"display" : "Hereditary folate malabsorption"
},
{
"code" : "90053",
"display" : "Complications after hematopoietic stem cell transplantation"
},
{
"code" : "90056",
"display" : "Moderate and severe traumatic brain injury"
},
{
"code" : "90058",
"display" : "Spinal cord injury"
},
{
"code" : "90076",
"display" : "Partial deep dermal and full thickness burns"
},
{
"code" : "90153",
"display" : "Mandibuloacral dysplasia with type A lipodystrophy"
},
{
"code" : "90160",
"display" : "Pressure-induced localized lipoatrophy"
},
{
"code" : "90340",
"display" : "Blau syndrome"
},
{
"code" : "90362",
"display" : "Primary intestinal lymphangiectasia"
},
{
"code" : "90390",
"display" : "Anonychia-onychodystrophy syndrome"
},
{
"code" : "90395",
"display" : "Papular mucinosis of infancy"
},
{
"code" : "90650",
"display" : "Otopalatodigital syndrome type 1"
},
{
"code" : "90673",
"display" : "Hypothyroidism due to TSH receptor mutations"
},
{
"code" : "90793",
"display" : "Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency"
},
{
"code" : "91130",
"display" : "Cardiomyopathy-hypotonia-lactic acidosis syndrome"
},
{
"code" : "91131",
"display" : "DK1-CDG"
},
{
"code" : "91138",
"display" : "Cryoglobulinemic vasculitis"
},
{
"code" : "91348",
"display" : "Functioning gonadotropic adenoma"
},
{
"code" : "91350",
"display" : "Pituitary deficiency due to Rathke cleft cysts"
},
{
"code" : "91354",
"display" : "Pituitary deficiency due to empty sella turcica syndrome"
},
{
"code" : "91358",
"display" : "Congenital esophageal diverticulum"
},
{
"code" : "91412",
"display" : "Marcus-Gunn syndrome"
},
{
"code" : "91494",
"display" : "Macular coloboma-cleft palate-hallux valgus syndrome"
},
{
"code" : "91495",
"display" : "Persistent hyperplastic primary vitreous"
},
{
"code" : "92050",
"display" : "Congenital tufting enteropathy"
},
{
"code" : "93100",
"display" : "Renal agenesis, unilateral"
},
{
"code" : "93176",
"display" : "Unilateral congenital megacalycosis"
},
{
"code" : "93271",
"display" : "Short rib-polydactyly syndrome, Verma-Naumoff type"
},
{
"code" : "93277",
"display" : "Monostotic fibrous dysplasia"
},
{
"code" : "93292",
"display" : "Adenoma of pancreas"
},
{
"code" : "93349",
"display" : "X-linked spondyloepimetaphyseal dysplasia"
},
{
"code" : "93382",
"display" : "Brachydactyly type A6"
},
{
"code" : "93400",
"display" : "Congenital sialidosis type 2"
},
{
"code" : "93402",
"display" : "Syndactyly type 1"
},
{
"code" : "93404",
"display" : "Syndactyly type 3"
},
{
"code" : "93405",
"display" : "Syndactyly type 4"
},
{
"code" : "93406",
"display" : "Syndactyly type 5"
},
{
"code" : "93552",
"display" : "Pediatric systemic lupus erythematosus"
},
{
"code" : "93556",
"display" : "Heavy chain deposition disease"
},
{
"code" : "93562",
"display" : "AFib amyloidosis"
},
{
"code" : "93685",
"display" : "Unicentric Castleman disease"
},
{
"code" : "93928",
"display" : "Isolated epispadias"
},
{
"code" : "93929",
"display" : "Cloacal exstrophy"
},
{
"code" : "93932",
"display" : "FG syndrome type 1"
},
{
"code" : "93947",
"display" : "X-linked intellectual disability, Golabi-Ito-Hall type"
},
{
"code" : "93969",
"display" : "Open spinal dysraphism with a myelomeningocele"
},
{
"code" : "94058",
"display" : "Neovascular glaucoma"
},
{
"code" : "94122",
"display" : "Cerebellar ataxia, Cayman type"
},
{
"code" : "95512",
"display" : "Adenohypophysitis"
},
{
"code" : "95854",
"display" : "Levocardia"
},
{
"code" : "96055",
"display" : "Tetrasomy 21"
},
{
"code" : "96092",
"display" : "8p inverted duplication/deletion syndrome"
},
{
"code" : "96097",
"display" : "Distal duplication 5q"
},
{
"code" : "96102",
"display" : "Distal duplication 10q"
},
{
"code" : "96126",
"display" : "Distal deletion 7p"
},
{
"code" : "96147",
"display" : "Kleefstra syndrome due to 9q34 microdeletion"
},
{
"code" : "96177",
"display" : "Ring chromosome 15 syndrome"
},
{
"code" : "96182",
"display" : "Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7"
},
{
"code" : "96193",
"display" : "Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11"
},
{
"code" : "97249",
"display" : "Pontocerebellar hypoplasia type 3"
},
{
"code" : "97286",
"display" : "Carney-Stratakis syndrome"
},
{
"code" : "97332",
"display" : "Kienbock disease"
},
{
"code" : "97339",
"display" : "Dural sinus malformation"
},
{
"code" : "97349",
"display" : "Postencephalitic parkinsonism"
},
{
"code" : "97367",
"display" : "Renal tubular dysgenesis due to twin-twin transfusion"
},
{
"code" : "97368",
"display" : "Drug-related renal tubular dysgenesis"
},
{
"code" : "97598",
"display" : "Congenital renal artery stenosis"
},
{
"code" : "98619",
"display" : "Rare isolated myopia"
},
{
"code" : "98760",
"display" : "Spinocerebellar ataxia type 8"
},
{
"code" : "98762",
"display" : "Spinocerebellar ataxia type 12"
},
{
"code" : "98794",
"display" : "Angelman syndrome due to maternal 15q11q13 deletion"
},
{
"code" : "98818",
"display" : "Landau-Kleffner syndrome"
},
{
"code" : "98827",
"display" : "Unclassified myelodysplastic syndrome"
},
{
"code" : "98843",
"display" : "Classic Hodgkin lymphoma, nodular sclerosis type"
},
{
"code" : "98845",
"display" : "Classic Hodgkin lymphoma, lymphocyte-rich type"
},
{
"code" : "98850",
"display" : "Aggressive systemic mastocytosis"
},
{
"code" : "98878",
"display" : "Hemophilia A"
},
{
"code" : "98912",
"display" : "Late-onset distal myopathy, Markesbery-Griggs type"
},
{
"code" : "98938",
"display" : "Colobomatous microphthalmia"
},
{
"code" : "98944",
"display" : "Coloboma of iris"
},
{
"code" : "98948",
"display" : "Congenital symblepharon"
},
{
"code" : "98949",
"display" : "Complete cryptophthalmia"
},
{
"code" : "98960",
"display" : "Thiel-Behnke corneal dystrophy"
},
{
"code" : "98969",
"display" : "Macular corneal dystrophy"
},
{
"code" : "98985",
"display" : "Early-onset sutural cataract"
},
{
"code" : "98993",
"display" : "Early-onset posterior polar cataract"
},
{
"code" : "99004",
"display" : "Fundus pulverulentus"
},
{
"code" : "99049",
"display" : "Pulmonary artery coming from patent ductus arteriosus"
},
{
"code" : "99053",
"display" : "Tunnel subaortic stenosis"
},
{
"code" : "99054",
"display" : "Valvular pulmonary stenosis"
},
{
"code" : "99072",
"display" : "Congenital patent ductus arteriosus aneurysm"
},
{
"code" : "99092",
"display" : "Interventricular septum aneurysm"
},
{
"code" : "99100",
"display" : "Juxtaposition of the atrial appendages"
},
{
"code" : "99101",
"display" : "Ectasia of the right atrial appendage"
},
{
"code" : "99107",
"display" : "Atrial septal aneurysm"
},
{
"code" : "99113",
"display" : "Subaortic course of innominate vein"
},
{
"code" : "99114",
"display" : "Agenesis of the superior vena cava"
},
{
"code" : "99123",
"display" : "Inferior vena cava interruption without azygos continuation"
},
{
"code" : "99756",
"display" : "Alveolar rhabdomyosarcoma"
},
{
"code" : "99853",
"display" : "Ovarioleukodystrophy"
},
{
"code" : "99867",
"display" : "Thymoma"
},
{
"code" : "99885",
"display" : "Isolated permanent neonatal diabetes mellitus"
},
{
"code" : "99898",
"display" : "Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency"
},
{
"code" : "99932",
"display" : "Heiner syndrome"
},
{
"code" : "99934",
"display" : "Pleuropulmonary blastoma type 2"
},
{
"code" : "99951",
"display" : "Charcot-Marie-Tooth disease type 4E"
},
{
"code" : "99952",
"display" : "Charcot-Marie-Tooth disease type 4F"
},
{
"code" : "99955",
"display" : "Charcot-Marie-Tooth disease type 4B1"
},
{
"code" : "99961",
"display" : "Benign recurrent intrahepatic cholestasis type 2"
},
{
"code" : "99978",
"display" : "Klatskin tumor"
},
{
"code" : "100012",
"display" : "Lissencephaly with cerebellar hypoplasia type B"
},
{
"code" : "100051",
"display" : "Hereditary angioedema type 2"
},
{
"code" : "100054",
"display" : "F12-related hereditary angioedema with normal C1Inh"
},
{
"code" : "100080",
"display" : "Neuroendocrine tumor of the colon"
},
{
"code" : "100989",
"display" : "Autosomal dominant spastic paraplegia type 8"
},
{
"code" : "100997",
"display" : "X-linked spastic paraplegia type 16"
},
{
"code" : "101003",
"display" : "Autosomal recessive spastic paraplegia type 23"
},
{
"code" : "101009",
"display" : "Autosomal dominant spastic paraplegia type 29"
},
{
"code" : "101041",
"display" : "Familial hypofibrinogenemia"
},
{
"code" : "101071",
"display" : "Unilateral hemispheric polymicrogyria"
},
{
"code" : "101108",
"display" : "Spinocerebellar ataxia type 23"
},
{
"code" : "101206",
"display" : "Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome"
},
{
"code" : "101685",
"display" : "Rare non-syndromic intellectual disability"
},
{
"code" : "103920",
"display" : "Undetermined colitis"
},
{
"code" : "137675",
"display" : "Histiocytoid cardiomyopathy"
},
{
"code" : "137834",
"display" : "Frank-Ter Haar syndrome"
},
{
"code" : "137893",
"display" : "Male infertility due to large-headed multiflagellar polyploid spermatozoa"
},
{
"code" : "137898",
"display" : "Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome"
},
{
"code" : "137929",
"display" : "Neonatal brainstem dysfunction"
},
{
"code" : "139441",
"display" : "Hypomyelination with atrophy of basal ganglia and cerebellum"
},
{
"code" : "139450",
"display" : "Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome"
},
{
"code" : "139471",
"display" : "Microphthalmia with brain and digit anomalies"
},
{
"code" : "140481",
"display" : "Autosomal dominant slowed nerve conduction velocity"
},
{
"code" : "140917",
"display" : "Stapes ankylosis with broad thumbs and toes"
},
{
"code" : "140936",
"display" : "Lelis syndrome"
},
{
"code" : "141013",
"display" : "First branchial cleft anomaly"
},
{
"code" : "141022",
"display" : "Second branchial cleft anomaly"
},
{
"code" : "141046",
"display" : "Cervical dermoid cyst"
},
{
"code" : "141064",
"display" : "Lower lip fistula"
},
{
"code" : "141112",
"display" : "Nasal glial heterotopia"
},
{
"code" : "141148",
"display" : "Hemifacial myohyperplasia"
},
{
"code" : "141184",
"display" : "Rapidly involuting congenital hemangioma"
},
{
"code" : "141276",
"display" : "Tessier number 7 facial cleft"
},
{
"code" : "141330",
"display" : "Orofaciodigital syndrome type 13"
},
{
"code" : "157823",
"display" : "Klüver-Bucy syndrome"
},
{
"code" : "158057",
"display" : "Acquired hemophagocytic lymphohistiocytosis associated with malignant disease"
},
{
"code" : "158668",
"display" : "Ectodermal dysplasia-skin fragility syndrome"
},
{
"code" : "162516",
"display" : "Isolated congenital nasal pyriform aperture stenosis"
},
{
"code" : "163596",
"display" : "Hb Bart's hydrops fetalis"
},
{
"code" : "163961",
"display" : "X-linked cerebral-cerebellar-coloboma syndrome"
},
{
"code" : "166032",
"display" : "Multiple epiphyseal dysplasia, with miniepiphyses"
},
{
"code" : "166282",
"display" : "Familial sick sinus syndrome"
},
{
"code" : "166418",
"display" : "Eating reflex epilepsy"
},
{
"code" : "168443",
"display" : "Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome"
},
{
"code" : "168486",
"display" : "Congenital neuronal ceroid lipofuscinosis"
},
{
"code" : "168566",
"display" : "Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3"
},
{
"code" : "168816",
"display" : "Peritoneal cystic mesothelioma"
},
{
"code" : "168940",
"display" : "Chronic eosinophilic leukemia"
},
{
"code" : "168950",
"display" : "Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement"
},
{
"code" : "169105",
"display" : "Good syndrome"
},
{
"code" : "169157",
"display" : "T-B+ severe combined immunodeficiency due to CD45 deficiency"
},
{
"code" : "169796",
"display" : "Moderate hemophilia B"
},
{
"code" : "169808",
"display" : "Mild hemophilia A"
},
{
"code" : "171673",
"display" : "Limbal stem cell deficiency"
},
{
"code" : "171690",
"display" : "Metabolic myopathy due to lactate transporter defect"
},
{
"code" : "171709",
"display" : "Male infertility due to globozoospermia"
},
{
"code" : "171929",
"display" : "Trisomy 10p"
},
{
"code" : "177907",
"display" : "Prader-Willi syndrome due to translocation"
},
{
"code" : "178145",
"display" : "Moderate multiminicore disease with hand involvement"
},
{
"code" : "178396",
"display" : "Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation"
},
{
"code" : "178509",
"display" : "Perry syndrome"
},
{
"code" : "180142",
"display" : "Absence of uterine body"
},
{
"code" : "180242",
"display" : "Malignant tumor of fallopian tubes"
},
{
"code" : "183675",
"display" : "Recurrent infections associated with rare immunoglobulin isotypes deficiency"
},
{
"code" : "199241",
"display" : "Pulmonary capillary hemangiomatosis"
},
{
"code" : "199329",
"display" : "Congenital myopathy, Paradas type"
},
{
"code" : "208447",
"display" : "Bilateral generalized polymicrogyria"
},
{
"code" : "208513",
"display" : "Spinocerebellar ataxia type 29"
},
{
"code" : "208524",
"display" : "Herpetiform pemphigus"
},
{
"code" : "209902",
"display" : "Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency"
},
{
"code" : "209967",
"display" : "Episodic ataxia type 6"
},
{
"code" : "209989",
"display" : "Non-papillary transitional cell carcinoma of the bladder"
},
{
"code" : "210141",
"display" : "Inherited congenital spastic tetraplegia"
},
{
"code" : "210144",
"display" : "Lethal polymalformative syndrome, Boissel type"
},
{
"code" : "213711",
"display" : "Endometrial stromal sarcoma"
},
{
"code" : "213731",
"display" : "High-grade neuroendocrine carcinoma of the corpus uteri"
},
{
"code" : "213736",
"display" : "Low-grade neuroendocrine tumor of the corpus uteri"
},
{
"code" : "213746",
"display" : "Transitional cell carcinoma of the corpus uteri"
},
{
"code" : "216820",
"display" : "Osteogenesis imperfecta type 4"
},
{
"code" : "216866",
"display" : "Classic pantothenate kinase-associated neurodegeneration"
},
{
"code" : "217064",
"display" : "5-fluorouracil poisoning"
},
{
"code" : "217093",
"display" : "Mucopolysaccharidosis type 2, attenuated form"
},
{
"code" : "217382",
"display" : "Neurodegenerative syndrome due to cerebral folate transport deficiency"
},
{
"code" : "217396",
"display" : "Progressive polyneuropathy with bilateral striatal necrosis"
},
{
"code" : "217566",
"display" : "Chronic respiratory distress with surfactant metabolism deficiency"
},
{
"code" : "220393",
"display" : "Diffuse cutaneous systemic sclerosis"
},
{
"code" : "220443",
"display" : "Bleeding diathesis due to thromboxane synthesis deficiency"
},
{
"code" : "221142",
"display" : "Confetti-like macular atrophy"
},
{
"code" : "228119",
"display" : "Fusariosis"
},
{
"code" : "228123",
"display" : "Coccidioidomycosis"
},
{
"code" : "228140",
"display" : "Idiopathic ventricular fibrillation, non Brugada type"
},
{
"code" : "228371",
"display" : "Foodborne botulism"
},
{
"code" : "228390",
"display" : "Frontonasal dysplasia-alopecia-genital anomalies syndrome"
},
{
"code" : "231080",
"display" : "High-grade dysplasia in patients with Barrett esophagus"
},
{
"code" : "231108",
"display" : "Rhabdoid tumor predisposition syndrome"
},
{
"code" : "231512",
"display" : "Hermansky-Pudlak syndrome due to BLOC-2 deficiency"
},
{
"code" : "238468",
"display" : "Hypohidrotic ectodermal dysplasia"
},
{
"code" : "238613",
"display" : "Beckwith-Wiedemann syndrome due to NSD1 mutation"
},
{
"code" : "238688",
"display" : "Neonatal iodine exposure"
},
{
"code" : "240085",
"display" : "Progressive supranuclear palsy-parkinsonism syndrome"
},
{
"code" : "243367",
"display" : "Acute fatty liver of pregnancy"
},
{
"code" : "247198",
"display" : "Progressive cerebello-cerebral atrophy"
},
{
"code" : "247262",
"display" : "Hyperphosphatasia-intellectual disability syndrome"
},
{
"code" : "247598",
"display" : "Neonatal intrahepatic cholestasis due to citrin deficiency"
},
{
"code" : "247667",
"display" : "Childhood-onset hypophosphatasia"
},
{
"code" : "247691",
"display" : "Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations"
},
{
"code" : "247724",
"display" : "Idiopathic eosinophilic myositis"
},
{
"code" : "247762",
"display" : "Lipoblastoma"
},
{
"code" : "247815",
"display" : "Autosomal recessive ataxia due to PEX10 deficiency"
},
{
"code" : "247820",
"display" : "Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome"
},
{
"code" : "250999",
"display" : "1q41q42 microdeletion syndrome"
},
{
"code" : "251009",
"display" : "Maternal uniparental disomy of chromosome 1"
},
{
"code" : "251019",
"display" : "2q32q33 microdeletion syndrome"
},
{
"code" : "251262",
"display" : "Familial osteochondritis dissecans"
},
{
"code" : "251295",
"display" : "Pigmented paravenous retinochoroidal atrophy"
},
{
"code" : "251582",
"display" : "Gliomatosis cerebri"
},
{
"code" : "251604",
"display" : "Gemistocytic astrocytoma"
},
{
"code" : "251607",
"display" : "Pleomorphic xanthoastrocytoma"
},
{
"code" : "251615",
"display" : "Pilomyxoid astrocytoma"
},
{
"code" : "251636",
"display" : "Ependymoma"
},
{
"code" : "251639",
"display" : "Subependymoma"
},
{
"code" : "251902",
"display" : "Atypical papilloma of choroid plexus"
},
{
"code" : "251927",
"display" : "Extraventricular neurocytoma"
},
{
"code" : "251940",
"display" : "Desmoplastic infantile astrocytoma/ganglioglioma"
},
{
"code" : "251975",
"display" : "Rosette-forming glioneuronal tumor"
},
{
"code" : "252164",
"display" : "Benign schwannoma"
},
{
"code" : "252202",
"display" : "Constitutional mismatch repair deficiency syndrome"
},
{
"code" : "254343",
"display" : "Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome"
},
{
"code" : "254424",
"display" : "Annular lichen planus"
},
{
"code" : "254698",
"display" : "Epithelioid trophoblastic tumor"
},
{
"code" : "254905",
"display" : "Isolated cytochrome C oxidase deficiency"
},
{
"code" : "261102",
"display" : "Distal 7q11.23 microduplication syndrome"
},
{
"code" : "261144",
"display" : "FOXG1 syndrome due to 14q12 microdeletion"
},
{
"code" : "261211",
"display" : "16p11.2p12.2 microdeletion syndrome"
},
{
"code" : "261323",
"display" : "21q22.11q22.12 microdeletion syndrome"
},
{
"code" : "261337",
"display" : "Distal 22q11.2 microduplication syndrome"
},
{
"code" : "261349",
"display" : "2p15p16.1 microdeletion syndrome"
},
{
"code" : "261476",
"display" : "Xp21 deletion syndrome"
},
{
"code" : "261529",
"display" : "Ring chromosome Y syndrome"
},
{
"code" : "261534",
"display" : "49,XXXYY syndrome"
},
{
"code" : "261629",
"display" : "Alagille syndrome due to a NOTCH2 point mutation"
},
{
"code" : "261638",
"display" : "Okihiro syndrome due to 20q13 microdeletion"
},
{
"code" : "263324",
"display" : "Thymoma type AB"
},
{
"code" : "263331",
"display" : "Well-differentiated thymic neuroendocrine carcinoma"
},
{
"code" : "263458",
"display" : "Hyperinsulinism due to INSR deficiency"
},
{
"code" : "263463",
"display" : "CHST3-related skeletal dysplasia"
},
{
"code" : "263516",
"display" : "Progressive myoclonic epilepsy type 3"
},
{
"code" : "263665",
"display" : "NK-cell enteropathy"
},
{
"code" : "264580",
"display" : "Glycogen storage disease due to liver phosphorylase kinase deficiency"
},
{
"code" : "264675",
"display" : "Hereditary pulmonary alveolar proteinosis"
},
{
"code" : "268184",
"display" : "Thiamine-responsive maple syrup urine disease"
},
{
"code" : "268829",
"display" : "Basal encephalocele"
},
{
"code" : "268947",
"display" : "Unilateral focal polymicrogyria"
},
{
"code" : "268961",
"display" : "Isolated focal cortical dysplasia type I"
},
{
"code" : "269008",
"display" : "Isolated focal cortical dysplasia type IIb"
},
{
"code" : "269229",
"display" : "Pontine tegmental cap dysplasia"
},
{
"code" : "275523",
"display" : "Dianzani autoimmune lymphoproliferative disease"
},
{
"code" : "276174",
"display" : "Idiopathic recurrent stupor"
},
{
"code" : "276193",
"display" : "Spinocerebellar ataxia type 35"
},
{
"code" : "276223",
"display" : "Mucopolysaccharidosis type 6, slowly progressing"
},
{
"code" : "276244",
"display" : "Machado-Joseph disease type 3"
},
{
"code" : "276280",
"display" : "Hemihyperplasia-multiple lipomatosis syndrome"
},
{
"code" : "276598",
"display" : "Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency"
},
{
"code" : "276630",
"display" : "Symptomatic form of Coffin-Lowry syndrome in female carriers"
},
{
"code" : "279925",
"display" : "Infectious panuveitis"
},
{
"code" : "280183",
"display" : "Methylmalonic aciduria due to transcobalamin receptor defect"
},
{
"code" : "280234",
"display" : "Null syndrome"
},
{
"code" : "280288",
"display" : "Pelizaeus-Merzbacher-like disease due to HSPD1 mutation"
},
{
"code" : "280403",
"display" : "Familial omphalocele syndrome with facial dysmorphism"
},
{
"code" : "280553",
"display" : "Fatal infantile hypertonic myofibrillar myopathy"
},
{
"code" : "280576",
"display" : "Nestor-Guillermo progeria syndrome"
},
{
"code" : "280620",
"display" : "Progressive myoclonic epilepsy type 6"
},
{
"code" : "280679",
"display" : "Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome"
},
{
"code" : "280774",
"display" : "Generalized essential telangiectasia"
},
{
"code" : "280811",
"display" : "Extralobar congenital pulmonary sequestration"
},
{
"code" : "280917",
"display" : "Idiopathic posterior uveitis"
},
{
"code" : "281190",
"display" : "Congenital reticular ichthyosiform erythroderma"
},
{
"code" : "284180",
"display" : "Xp22.13p22.2 duplication syndrome"
},
{
"code" : "284339",
"display" : "Pontocerebellar hypoplasia type 7"
},
{
"code" : "284388",
"display" : "Reversible cerebral vasoconstriction syndrome"
},
{
"code" : "289916",
"display" : "Vitamin B12-unresponsive methylmalonic acidemia type mut0"
},
{
"code" : "293150",
"display" : "Familial clubfoot due to PITX1 point mutation"
},
{
"code" : "293462",
"display" : "Pre-Descemet corneal dystrophy"
},
{
"code" : "293843",
"display" : "3MC syndrome"
},
{
"code" : "293864",
"display" : "Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome"
},
{
"code" : "293958",
"display" : "Hypertelorism-preauricular sinus-punctual pits-deafness syndrome"
},
{
"code" : "294026",
"display" : "Syndactyly-nystagmus syndrome due to 2q31.1 microduplication"
},
{
"code" : "294422",
"display" : "Chronic intestinal failure"
},
{
"code" : "294971",
"display" : "Tetra-amelia"
},
{
"code" : "294983",
"display" : "Acheiria"
},
{
"code" : "295020",
"display" : "Congenital pseudoarthrosis of the femur"
},
{
"code" : "295032",
"display" : "Isolated congenital radial head dislocation"
},
{
"code" : "295187",
"display" : "Zygodactyly type 1"
},
{
"code" : "295191",
"display" : "Zygodactyly type 3"
},
{
"code" : "295245",
"display" : "Macrodactyly of toes, bilateral"
},
{
"code" : "300293",
"display" : "Transient infantile hypertriglyceridemia and hepatosteatosis"
},
{
"code" : "300319",
"display" : "Charcot-Marie-Tooth disease type 2P"
},
{
"code" : "300564",
"display" : "Combined pulmonary fibrosis-emphysema syndrome"
},
{
"code" : "306530",
"display" : "Congenital hereditary facial paralysis-variable hearing loss syndrome"
},
{
"code" : "306682",
"display" : "Manganese poisoning"
},
{
"code" : "306734",
"display" : "Primary dystonia, DYT21 type"
},
{
"code" : "308410",
"display" : "Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency"
},
{
"code" : "309108",
"display" : "Pancreatic colipase deficiency"
},
{
"code" : "309155",
"display" : "Sandhoff disease, infantile form"
},
{
"code" : "309178",
"display" : "Tay-Sachs disease, B variant, infantile form"
},
{
"code" : "309331",
"display" : "Intermediate severe Salla disease"
},
{
"code" : "309854",
"display" : "Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome"
},
{
"code" : "313772",
"display" : "Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome"
},
{
"code" : "313846",
"display" : "Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome"
},
{
"code" : "314017",
"display" : "Idiopathic linear interstitial keratitis"
},
{
"code" : "314689",
"display" : "Combined immunodeficiency due to STK4 deficiency"
},
{
"code" : "314777",
"display" : "Familial isolated pituitary adenoma"
},
{
"code" : "314970",
"display" : "Lymphocytic hypereosinophilic syndrome"
},
{
"code" : "317430",
"display" : "Combined immunodeficiency due to STIM1 deficiency"
},
{
"code" : "317476",
"display" : "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia"
},
{
"code" : "319229",
"display" : "Bolivian hemorrhagic fever"
},
{
"code" : "319552",
"display" : "Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency"
},
{
"code" : "319678",
"display" : "Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome"
},
{
"code" : "320355",
"display" : "Autosomal dominant spastic paraplegia type 41"
},
{
"code" : "320375",
"display" : "Autosomal recessive spastic paraplegia type 55"
},
{
"code" : "320385",
"display" : "Hereditary sensory and autonomic neuropathy due to TECPR2 mutation"
},
{
"code" : "320411",
"display" : "Autosomal recessive spastic paraplegia type 56"
},
{
"code" : "324262",
"display" : "Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency"
},
{
"code" : "324294",
"display" : "T-cell immunodeficiency with epidermodysplasia verruciformis"
},
{
"code" : "324307",
"display" : "Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome"
},
{
"code" : "324718",
"display" : "ABetaA21G amyloidosis"
},
{
"code" : "324737",
"display" : "SRD5A3-CDG"
},
{
"code" : "324964",
"display" : "Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis"
},
{
"code" : "324972",
"display" : "MAGIC syndrome"
},
{
"code" : "329217",
"display" : "Cerebral sinovenous thrombosis"
},
{
"code" : "329466",
"display" : "Autosomal dominant focal dystonia, DYT25 type"
},
{
"code" : "329475",
"display" : "Spastic paraplegia-Paget disease of bone syndrome"
},
{
"code" : "329971",
"display" : "Generalized juvenile polyposis/juvenile polyposis coli"
},
{
"code" : "329977",
"display" : "Classic neuroendocrine tumor of appendix"
},
{
"code" : "330001",
"display" : "Wild type ATTR amyloidosis"
},
{
"code" : "330021",
"display" : "Mercury poisoning"
},
{
"code" : "330050",
"display" : "DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect"
},
{
"code" : "331206",
"display" : "Severe combined immunodeficiency due to complete RAG1/2 deficiency"
},
{
"code" : "352447",
"display" : "Progressive external ophthalmoplegia-myopathy-emaciation syndrome"
},
{
"code" : "352563",
"display" : "Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency"
},
{
"code" : "352587",
"display" : "Focal epilepsy-intellectual disability-cerebro-cerebellar malformation"
},
{
"code" : "352709",
"display" : "CLN13 disease"
},
{
"code" : "352723",
"display" : "Attenuated Chédiak-Higashi syndrome"
},
{
"code" : "353277",
"display" : "Rubinstein-Taybi syndrome due to CREBBP mutations"
},
{
"code" : "363412",
"display" : "Hypomyelination with brain stem and spinal cord involvement and leg spasticity"
},
{
"code" : "363424",
"display" : "Multiple mitochondrial dysfunctions syndrome type 3"
},
{
"code" : "363534",
"display" : "Mitochondrial DNA depletion syndrome, hepatocerebrorenal form"
},
{
"code" : "363623",
"display" : "GMPPB-related limb-girdle muscular dystrophy R19"
},
{
"code" : "363677",
"display" : "Childhood-onset autosomal recessive myopathy with external ophthalmoplegia"
},
{
"code" : "363992",
"display" : "Ichthyosis-short stature-brachydactyly-microspherophakia syndrome"
},
{
"code" : "364033",
"display" : "Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood"
},
{
"code" : "369840",
"display" : "TRAPPC11-related limb-girdle muscular dystrophy R18"
},
{
"code" : "369970",
"display" : "Microcornea-myopic chorioretinal atrophy-telecanthus syndrome"
},
{
"code" : "370039",
"display" : "Angora hair nevus"
},
{
"code" : "370930",
"display" : "XYLT1-CDG"
},
{
"code" : "370933",
"display" : "GM3 synthase deficiency"
},
{
"code" : "391376",
"display" : "Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome"
},
{
"code" : "391384",
"display" : "Familial episodic pain syndrome"
},
{
"code" : "391474",
"display" : "Frontorhiny"
},
{
"code" : "391723",
"display" : "Mucinous adenocarcinoma of the appendix"
},
{
"code" : "397685",
"display" : "Familial hyperprolactinemia"
},
{
"code" : "397695",
"display" : "3q27.3 microdeletion syndrome"
},
{
"code" : "397735",
"display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2U"
},
{
"code" : "397922",
"display" : "Ferro-cerebro-cutaneous syndrome"
},
{
"code" : "397959",
"display" : "TCR-alpha-beta-positive T-cell deficiency"
},
{
"code" : "398088",
"display" : "Hereditary cryohydrocytosis with normal stomatin"
},
{
"code" : "398117",
"display" : "Neonatal dermatomyositis"
},
{
"code" : "399103",
"display" : "Distal nebulin myopathy"
},
{
"code" : "399293",
"display" : "Osteonecrosis of the jaw"
},
{
"code" : "401849",
"display" : "Autosomal spastic paraplegia type 72"
},
{
"code" : "401866",
"display" : "Childhood-onset spasticity with hyperglycinemia"
},
{
"code" : "401948",
"display" : "Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency"
},
{
"code" : "402014",
"display" : "Acute myeloid leukemia with t(6;9)(p23;q34)"
},
{
"code" : "402023",
"display" : "Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)"
},
{
"code" : "402364",
"display" : "Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly"
},
{
"code" : "404553",
"display" : "Vasculitis due to ADA2 deficiency"
},
{
"code" : "411515",
"display" : "Angelman syndrome due to imprinting defect in 15q11-q13"
},
{
"code" : "412181",
"display" : "Epidermolysis bullosa simplex due to BP230 deficiency"
},
{
"code" : "412206",
"display" : "Primary failure of tooth eruption"
},
{
"code" : "420179",
"display" : "Malan overgrowth syndrome"
},
{
"code" : "420429",
"display" : "Glycogen storage disease due to acid maltase deficiency, late-onset"
},
{
"code" : "420561",
"display" : "Temple-Baraitser syndrome"
},
{
"code" : "420573",
"display" : "Severe combined immunodeficiency due to CTPS1 deficiency"
},
{
"code" : "420733",
"display" : "Combined oxidative phosphorylation defect type 21"
},
{
"code" : "420794",
"display" : "Cono-spondylar dysplasia"
},
{
"code" : "423306",
"display" : "Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome"
},
{
"code" : "423693",
"display" : "Double outlet right ventricle with subaortic or doubly committed ventricular septal defect"
},
{
"code" : "423786",
"display" : "Undifferentiated carcinoma of stomach"
},
{
"code" : "423968",
"display" : "Squamous cell carcinoma of the small intestine"
},
{
"code" : "423994",
"display" : "Squamous cell carcinoma of the colon"
},
{
"code" : "424046",
"display" : "Acinar cell carcinoma of pancreas"
},
{
"code" : "424053",
"display" : "Mucinous cystadenocarcinoma of the pancreas"
},
{
"code" : "424058",
"display" : "Intraductal papillary mucinous carcinoma of pancreas"
},
{
"code" : "435628",
"display" : "Keppen-Lubinsky syndrome"
},
{
"code" : "435651",
"display" : "CIDEC-related familial partial lipodystrophy"
},
{
"code" : "435804",
"display" : "Short stature-advanced bone age-early-onset osteoarthritis syndrome"
},
{
"code" : "436169",
"display" : "Thrombomodulin-related bleeding disorder"
},
{
"code" : "438134",
"display" : "PCNA-related progressive neurodegenerative photosensitivity syndrome"
},
{
"code" : "438159",
"display" : "STAT3-related early-onset multisystem autoimmune disease"
},
{
"code" : "440713",
"display" : "Isolated sedoheptulokinase deficiency"
},
{
"code" : "441452",
"display" : "Early-onset lamellar cataract"
},
{
"code" : "443062",
"display" : "Familial porphyria cutanea tarda"
},
{
"code" : "443079",
"display" : "Central serous chorioretinopathy"
},
{
"code" : "443098",
"display" : "Hyperostosis cranialis interna"
},
{
"code" : "443101",
"display" : "Hypothalamic adipsic hypernatraemia syndrome"
},
{
"code" : "444002",
"display" : "11q22.2q22.3 microdeletion syndrome"
},
{
"code" : "447740",
"display" : "Susceptibility to localized juvenile periodontitis"
},
{
"code" : "447877",
"display" : "Polymerase proofreading-related adenomatous polyposis"
},
{
"code" : "447893",
"display" : "Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome"
},
{
"code" : "447974",
"display" : "Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome"
},
{
"code" : "447977",
"display" : "Progressive scapulohumeroperoneal distal myopathy"
},
{
"code" : "449266",
"display" : "Pleural empyema"
},
{
"code" : "453510",
"display" : "Congenital insensitivity to pain with severe intellectual disability"
},
{
"code" : "454821",
"display" : "Pleomorphic salivary gland adenoma"
},
{
"code" : "454840",
"display" : "NTHL1-related attenuated familial adenomatous polyposis"
},
{
"code" : "6",
"display" : "3-methylcrotonyl-CoA carboxylase deficiency"
},
{
"code" : "13",
"display" : "6-pyruvoyl-tetrahydropterin synthase deficiency"
},
{
"code" : "37",
"display" : "Acrodermatitis enteropathica"
},
{
"code" : "52",
"display" : "Alagille syndrome"
},
{
"code" : "59",
"display" : "Allan-Herndon-Dudley syndrome"
},
{
"code" : "64",
"display" : "Alström syndrome"
},
{
"code" : "79",
"display" : "Congenital alpha2-antiplasmin deficiency"
},
{
"code" : "90",
"display" : "Argininemia"
},
{
"code" : "95",
"display" : "Friedreich ataxia"
},
{
"code" : "98",
"display" : "Autosomal recessive spastic ataxia of Charlevoix-Saguenay"
},
{
"code" : "113",
"display" : "Bazex-Dupré-Christol syndrome"
},
{
"code" : "117",
"display" : "Behçet disease"
},
{
"code" : "128",
"display" : "Diphyllobothriasis"
},
{
"code" : "139",
"display" : "CHILD syndrome"
},
{
"code" : "457095",
"display" : "Actinomycosis"
},
{
"code" : "457246",
"display" : "Clear cell sarcoma of kidney"
},
{
"code" : "457284",
"display" : "Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome"
},
{
"code" : "457406",
"display" : "Multiple mitochondrial dysfunctions syndrome type 4"
},
{
"code" : "464306",
"display" : "DYRK1A-related intellectual disability syndrome"
},
{
"code" : "464329",
"display" : "Kaposiform lymphangiomatosis"
},
{
"code" : "464724",
"display" : "Fever-associated acute infantile liver failure syndrome"
},
{
"code" : "466695",
"display" : "Supratip dysplasia"
},
{
"code" : "468666",
"display" : "Isolated generalized anhidrosis with normal sweat glands"
},
{
"code" : "480556",
"display" : "Isolated neonatal sclerosing cholangitis"
},
{
"code" : "480864",
"display" : "Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome"
},
{
"code" : "480880",
"display" : "X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability"
},
{
"code" : "480898",
"display" : "Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome"
},
{
"code" : "482077",
"display" : "HTRA1-related autosomal dominant cerebral small vessel disease"
},
{
"code" : "485358",
"display" : "Propylthiouracil embryofetopathy"
},
{
"code" : "485418",
"display" : "EMILIN-1-related connective tissue disease"
},
{
"code" : "486811",
"display" : "Prenatal-onset spinal muscular atrophy with congenital bone fractures"
},
{
"code" : "486815",
"display" : "Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome"
},
{
"code" : "487814",
"display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation"
},
{
"code" : "487825",
"display" : "Pierpont syndrome"
},
{
"code" : "488168",
"display" : "Microcephaly-congenital cataract-psoriasiform dermatitis syndrome"
},
{
"code" : "488265",
"display" : "Osteofibrous dysplasia"
},
{
"code" : "488586",
"display" : "Congenital amyoplasia"
},
{
"code" : "488618",
"display" : "Transketolase deficiency"
},
{
"code" : "494418",
"display" : "Vulvar carcinoma"
},
{
"code" : "494526",
"display" : "Infantile-onset generalized dyskinesia with orofacial involvement"
},
{
"code" : "496689",
"display" : "Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome"
},
{
"code" : "497737",
"display" : "Epidermolytic nevus"
},
{
"code" : "498359",
"display" : "Aquagenic palmoplantar keratoderma"
},
{
"code" : "502305",
"display" : "Cochleovestibular malformation"
},
{
"code" : "502434",
"display" : "STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome"
},
{
"code" : "502437",
"display" : "4q25 proximal deletion syndrome"
},
{
"code" : "505216",
"display" : "3-methylglutaconic aciduria type 9"
},
{
"code" : "505237",
"display" : "Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome"
},
{
"code" : "505242",
"display" : "Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome"
},
{
"code" : "508410",
"display" : "Familial intestinal malrotation"
},
{
"code" : "519930",
"display" : "Fungal keratitis"
},
{
"code" : "521308",
"display" : "Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome"
},
{
"code" : "528623",
"display" : "Hereditary angioedema with C1Inh deficiency"
},
{
"code" : "528663",
"display" : "Acquired angioedema with C1Inh deficiency"
},
{
"code" : "529965",
"display" : "Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome"
},
{
"code" : "530298",
"display" : "Progressive myoclonic epilepsy with neuroserpin inclusion bodies"
},
{
"code" : "530792",
"display" : "RELA fusion-positive ependymoma"
},
{
"code" : "538756",
"display" : "Familial multiple discoid fibromas"
},
{
"code" : "538869",
"display" : "Bullous pyoderma gangrenosum"
},
{
"code" : "538872",
"display" : "Vegetative pyoderma gangrenosum"
},
{
"code" : "543470",
"display" : "Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome"
},
{
"code" : "544493",
"display" : "Streptococcus pneumoniae-associated hemolytic uremic syndrome"
},
{
"code" : "544628",
"display" : "Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome"
},
{
"code" : "556037",
"display" : "Late-onset familial hypoaldosteronism"
},
{
"code" : "557003",
"display" : "Oculoskeletodental syndrome"
},
{
"code" : "557056",
"display" : "Spastic ataxia-dysarthria due to glutaminase deficiency"
},
{
"code" : "562528",
"display" : "Congenital limbs-face contractures-hypotonia-developmental delay syndrome"
},
{
"code" : "562538",
"display" : "Autosomal recessive extra-oral halitosis"
},
{
"code" : "563612",
"display" : "Isolated exencephaly"
},
{
"code" : "563676",
"display" : "Seromucinous cystadenoma of childhood"
},
{
"code" : "160",
"display" : "Castleman disease"
},
{
"code" : "162",
"display" : "Cataract-glaucoma syndrome"
},
{
"code" : "202",
"display" : "Crandall syndrome"
},
{
"code" : "232",
"display" : "Sickle cell anemia"
},
{
"code" : "241",
"display" : "Dyschromatosis universalis hereditaria"
},
{
"code" : "266",
"display" : "Autosomal dominant limb-girdle muscular dystrophy type 1A"
},
{
"code" : "267",
"display" : "Calpain-3-related limb-girdle muscular dystrophy R1"
},
{
"code" : "276",
"display" : "T-B+ severe combined immunodeficiency due to gamma chain deficiency"
},
{
"code" : "287",
"display" : "Classical Ehlers-Danlos syndrome"
},
{
"code" : "288",
"display" : "Hereditary elliptocytosis"
},
{
"code" : "306",
"display" : "Benign familial infantile epilepsy"
},
{
"code" : "313",
"display" : "Lamellar ichthyosis"
},
{
"code" : "324",
"display" : "Fabry disease"
},
{
"code" : "332",
"display" : "Congenital intrinsic factor deficiency"
},
{
"code" : "345",
"display" : "Dissecting cellulitis of the scalp"
},
{
"code" : "381",
"display" : "Griscelli syndrome"
},
{
"code" : "396",
"display" : "Chronic hiccup"
},
{
"code" : "397",
"display" : "Giant cell arteritis"
},
{
"code" : "403",
"display" : "Familial hyperaldosteronism type I"
},
{
"code" : "408",
"display" : "Isolated glycerol kinase deficiency"
},
{
"code" : "414",
"display" : "Gyrate atrophy of choroid and retina"
},
{
"code" : "427",
"display" : "Familial hypoaldosteronism"
},
{
"code" : "439",
"display" : "Isolated right ventricular hypoplasia"
},
{
"code" : "441",
"display" : "Pure autonomic failure"
},
{
"code" : "446",
"display" : "Neonatal hemochromatosis"
},
{
"code" : "452",
"display" : "X-linked lissencephaly with abnormal genitalia"
},
{
"code" : "454",
"display" : "Acquired ichthyosis"
},
{
"code" : "474",
"display" : "Jeune syndrome"
},
{
"code" : "485",
"display" : "Kniest dysplasia"
},
{
"code" : "488",
"display" : "Urachal cyst"
},
{
"code" : "493",
"display" : "Familial keratoacanthoma"
},
{
"code" : "494",
"display" : "Keratoderma hereditarium mutilans"
},
{
"code" : "514",
"display" : "Acute monoblastic/monocytic leukemia"
},
{
"code" : "518",
"display" : "Acute megakaryoblastic leukemia"
},
{
"code" : "521",
"display" : "Chronic myeloid leukemia"
},
{
"code" : "534",
"display" : "Oculocerebrorenal syndrome of Lowe"
},
{
"code" : "545",
"display" : "Follicular lymphoma"
},
{
"code" : "552",
"display" : "MODY"
},
{
"code" : "569",
"display" : "Familial or sporadic hemiplegic migraine"
},
{
"code" : "581",
"display" : "Mucopolysaccharidosis type 3"
},
{
"code" : "588",
"display" : "Muscle-eye-brain disease"
},
{
"code" : "644",
"display" : "NARP syndrome"
},
{
"code" : "649",
"display" : "Norrie disease"
},
{
"code" : "662",
"display" : "Yellow nail syndrome"
},
{
"code" : "674",
"display" : "Accessory pancreas"
},
{
"code" : "679",
"display" : "Malignant atrophic papulosis"
},
{
"code" : "726",
"display" : "Alpers-Huttenlocher syndrome"
},
{
"code" : "729",
"display" : "Polycythemia vera"
},
{
"code" : "731",
"display" : "Autosomal recessive polycystic kidney disease"
},
{
"code" : "734",
"display" : "Alpha delta granule deficiency"
},
{
"code" : "742",
"display" : "Prolidase deficiency"
},
{
"code" : "755",
"display" : "Leydig cell hypoplasia"
},
{
"code" : "760",
"display" : "Purine nucleoside phosphorylase deficiency"
},
{
"code" : "766",
"display" : "Hemolytic anemia due to red cell pyruvate kinase deficiency"
},
{
"code" : "565837",
"display" : "Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23"
},
{
"code" : "566857",
"display" : "Aprosencephaly"
},
{
"code" : "567546",
"display" : "Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance"
},
{
"code" : "567550",
"display" : "Idiopathic multidrug-resistant nephrotic syndrome"
},
{
"code" : "570438",
"display" : "HHV-8-associated multicentric Castleman disease"
},
{
"code" : "572798",
"display" : "WARS2-related combined oxidative phosphorylation defect"
},
{
"code" : "574918",
"display" : "Predisposition to severe viral infection due to IRF7 deficiency"
},
{
"code" : "576370",
"display" : "Variant Creutzfeldt-Jakob disease"
},
{
"code" : "583097",
"display" : "Congenital infiltrating lipomatosis of the face"
},
{
"code" : "583602",
"display" : "Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency"
},
{
"code" : "589515",
"display" : "PUM1-associated developmental disability-ataxia-seizure syndrome"
},
{
"code" : "589542",
"display" : "Myeloid/lymphoid neoplasm associated with JAK2 rearrangement"
},
{
"code" : "592856",
"display" : "Neuromyelitis optica spectrum disorder with anti-MOG antibodies"
},
{
"code" : "596759",
"display" : "Combined immunodeficiency due to RELA haploinsufficiency"
},
{
"code" : "599376",
"display" : "Hypomyelination of early myelinating structures"
},
{
"code" : "599519",
"display" : "Factor V short isoforms-related bleeding disorder"
},
{
"code" : "600984",
"display" : "Non-syndromic anorectal malformation with rectovesical fistula"
},
{
"code" : "603515",
"display" : "Isolated female hypospadias"
},
{
"code" : "611207",
"display" : "Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome"
},
{
"code" : "615943",
"display" : "Granuloma faciale"
},
{
"code" : "617916",
"display" : "Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia"
},
{
"code" : "617930",
"display" : "Hemophilia B Leyden"
},
{
"code" : "619363",
"display" : "Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18"
},
{
"code" : "620186",
"display" : "Non-syndromic unicoronal and sagittal craniosynostosis"
},
{
"code" : "620192",
"display" : "Non-syndromic metopic and sagittal craniosynostosis"
},
{
"code" : "621758",
"display" : "Fibrosis-neurodegeneration-cerebral angiomatosis syndrome"
},
{
"code" : "623695",
"display" : "MIR140-related spondyloepiphyseal dysplasia"
},
{
"code" : "624199",
"display" : "Non-specific autoimmune brainstem encephalitis with characteristic antibodies"
},
{
"code" : "633035",
"display" : "Intellectual disability-early-onset cataract-microcephaly syndrome"
},
{
"code" : "641380",
"display" : "PAPASH syndrome"
},
{
"code" : "641385",
"display" : "PASS syndrome"
},
{
"code" : "642085",
"display" : "Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type"
},
{
"code" : "642763",
"display" : "Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation"
},
{
"code" : "645291",
"display" : "Transitional extramedullary conus spinal cord lipoma"
},
{
"code" : "645294",
"display" : "Posterior extramedullary conus spinal cord lipoma"
},
{
"code" : "645322",
"display" : "Isolated transitional filum lipoma"
},
{
"code" : "645354",
"display" : "Saccular limited dorsal myeloschisis"
},
{
"code" : "645401",
"display" : "True myeloschisis"
},
{
"code" : "645807",
"display" : "Primary tuberculous lymphadenitis"
},
{
"code" : "647782",
"display" : "Isolated micronodular adrenocortical disease"
},
{
"code" : "647804",
"display" : "Combined immunodeficiency due to FCHO1 deficiency"
},
{
"code" : "647823",
"display" : "Idiopathic pregnancy-associated osteoporosis"
},
{
"code" : "782",
"display" : "Axenfeld-Rieger syndrome"
},
{
"code" : "806",
"display" : "Scott syndrome"
},
{
"code" : "808",
"display" : "Seckel syndrome"
},
{
"code" : "811",
"display" : "Shwachman-Diamond syndrome"
},
{
"code" : "833",
"display" : "Encephalopathy due to sulfite oxidase deficiency"
},
{
"code" : "838",
"display" : "Susac syndrome"
},
{
"code" : "840",
"display" : "Syringocystadenoma papilliferum"
},
{
"code" : "841",
"display" : "Sebocystomatosis"
},
{
"code" : "867",
"display" : "Familial multiple trichoepithelioma"
},
{
"code" : "894",
"display" : "Waardenburg syndrome type 1"
},
{
"code" : "899",
"display" : "Walker-Warburg syndrome"
},
{
"code" : "908",
"display" : "Fragile X syndrome"
},
{
"code" : "949",
"display" : "Acrocraniofacial dysostosis"
},
{
"code" : "952",
"display" : "Acrofacial dysostosis, Weyers type"
},
{
"code" : "963",
"display" : "Acromegaly"
},
{
"code" : "974",
"display" : "Adams-Oliver syndrome"
},
{
"code" : "978",
"display" : "ADULT syndrome"
},
{
"code" : "988",
"display" : "Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome"
},
{
"code" : "1000",
"display" : "Ocular albinism with late-onset sensorineural deafness"
},
{
"code" : "1003",
"display" : "Scalp defects-postaxial polydactyly syndrome"
},
{
"code" : "1006",
"display" : "Alopecia antibody deficiency"
},
{
"code" : "1053",
"display" : "Vein of Galen aneurysmal malformation"
},
{
"code" : "1068",
"display" : "Aniridia-intellectual disability syndrome"
},
{
"code" : "1072",
"display" : "Ankyloblepharon filiforme adnatum-cleft palate syndrome"
},
{
"code" : "1116",
"display" : "Aplasia cutis congenita-intestinal lymphangiectasia syndrome"
},
{
"code" : "1118",
"display" : "Fibular aplasia-ectrodactyly syndrome"
},
{
"code" : "1125",
"display" : "Ocular motor apraxia, Cogan type"
},
{
"code" : "1133",
"display" : "AREDYLD syndrome"
},
{
"code" : "1164",
"display" : "Allergic bronchopulmonary aspergillosis"
},
{
"code" : "1183",
"display" : "Opsoclonus-myoclonus syndrome"
},
{
"code" : "1227",
"display" : "Bangstad syndrome"
},
{
"code" : "1264",
"display" : "Tricho-retino-dento-digital syndrome"
},
{
"code" : "1276",
"display" : "Brachydactyly-arterial hypertension syndrome"
},
{
"code" : "1295",
"display" : "Brachytelephalangy-dysmorphism-Kallmann syndrome"
},
{
"code" : "1314",
"display" : "Symmetrical thalamic calcifications"
},
{
"code" : "1321",
"display" : "Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome"
},
{
"code" : "1328",
"display" : "Camurati-Engelmann disease"
},
{
"code" : "1373",
"display" : "Cataract-aberrant oral frenula-growth delay syndrome"
},
{
"code" : "1381",
"display" : "Cataract-intellectual disability-anal atresia-urinary defects syndrome"
},
{
"code" : "1456",
"display" : "Atypical coarctation of aorta"
},
{
"code" : "1466",
"display" : "COFS syndrome"
},
{
"code" : "1467",
"display" : "Cogan syndrome"
},
{
"code" : "1478",
"display" : "Interatrial communication"
},
{
"code" : "1482",
"display" : "Gonococcal conjunctivitis"
},
{
"code" : "1487",
"display" : "Cooks syndrome"
},
{
"code" : "1490",
"display" : "Corneal dystrophy-perceptive deafness syndrome"
},
{
"code" : "1522",
"display" : "Craniometaphyseal dysplasia"
},
{
"code" : "1524",
"display" : "Craniomicromelic syndrome"
},
{
"code" : "1541",
"display" : "Craniosynostosis, Boston type"
},
{
"code" : "1563",
"display" : "Dahlberg-Borer-Newcomer syndrome"
},
{
"code" : "1566",
"display" : "Dandy-Walker malformation-postaxial polydactyly syndrome"
},
{
"code" : "1578",
"display" : "Pterin-4 alpha-carbinolamine dehydratase deficiency"
},
{
"code" : "1580",
"display" : "Distal deletion 10p"
},
{
"code" : "1590",
"display" : "Distal deletion 13q"
},
{
"code" : "1667",
"display" : "Wolcott-Rallison syndrome"
},
{
"code" : "1692",
"display" : "Mosaic trisomy 1"
},
{
"code" : "1706",
"display" : "Mosaic trisomy 15"
},
{
"code" : "1707",
"display" : "Distal duplication 15q"
},
{
"code" : "1713",
"display" : "17p11.2 microduplication syndrome"
},
{
"code" : "1768",
"display" : "Familial caudal dysgenesis"
},
{
"code" : "1772",
"display" : "45,X/46,XY mixed gonadal dysgenesis"
},
{
"code" : "1811",
"display" : "Odontomicronychial dysplasia"
},
{
"code" : "1812",
"display" : "Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome"
},
{
"code" : "1826",
"display" : "Frontometaphyseal dysplasia"
},
{
"code" : "1876",
"display" : "Oculogastrointestinal muscular dystrophy"
},
{
"code" : "1900",
"display" : "Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency"
},
{
"code" : "1913",
"display" : "Fetal trimethadione syndrome"
},
{
"code" : "1931",
"display" : "Frontal encephalocele"
},
{
"code" : "1941",
"display" : "Juvenile absence epilepsy"
},
{
"code" : "1942",
"display" : "Myoclonic-astatic epilepsy"
},
{
"code" : "1959",
"display" : "Evans syndrome"
},
{
"code" : "1969",
"display" : "Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome"
},
{
"code" : "1986",
"display" : "Gollop-Wolfgang complex"
},
{
"code" : "2003",
"display" : "Cleft lip/palate-deafness-sacral lipoma syndrome"
},
{
"code" : "2008",
"display" : "Acrocardiofacial syndrome"
},
{
"code" : "2020",
"display" : "Congenital fiber-type disproportion myopathy"
},
{
"code" : "2024",
"display" : "Hereditary gingival fibromatosis"
},
{
"code" : "2056",
"display" : "Essential fructosuria"
},
{
"code" : "2072",
"display" : "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome"
},
{
"code" : "2073",
"display" : "Narcolepsy type 1"
},
{
"code" : "2090",
"display" : "GMS syndrome"
},
{
"code" : "2095",
"display" : "Gorlin-Chaudhry-Moss syndrome"
},
{
"code" : "2101",
"display" : "Grubben-de Cock-Borghgraef syndrome"
},
{
"code" : "2115",
"display" : "Harrod syndrome"
},
{
"code" : "2118",
"display" : "Hawkinsinuria"
},
{
"code" : "2119",
"display" : "HEC syndrome"
},
{
"code" : "2180",
"display" : "Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome"
},
{
"code" : "2203",
"display" : "Hyperlysinemia"
},
{
"code" : "2204",
"display" : "Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type"
},
{
"code" : "2218",
"display" : "Cervical hypertrichosis-peripheral neuropathy syndrome"
},
{
"code" : "2230",
"display" : "Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome"
},
{
"code" : "2239",
"display" : "Familial isolated hypoparathyroidism due to agenesis of parathyroid gland"
},
{
"code" : "2266",
"display" : "Hypotrichosis-intellectual disability, Lopes type"
},
{
"code" : "2272",
"display" : "Ichthyosis-oral and digital anomalies syndrome"
},
{
"code" : "2278",
"display" : "Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome"
},
{
"code" : "2295",
"display" : "Familial articular hypermobility syndrome"
},
{
"code" : "2299",
"display" : "Aortic arch interruption"
},
{
"code" : "2315",
"display" : "Johanson-Blizzard syndrome"
},
{
"code" : "2324",
"display" : "Osteopenia-intellectual disability-sparse hair syndrome"
},
{
"code" : "2368",
"display" : "Gastroschisis"
},
{
"code" : "2382",
"display" : "Lennox-Gastaut syndrome"
},
{
"code" : "2390",
"display" : "Lichtenstein syndrome"
},
{
"code" : "2409",
"display" : "Lowry-MacLean syndrome"
},
{
"code" : "2429",
"display" : "Macrocephaly-spastic paraplegia-dysmorphism syndrome"
},
{
"code" : "2435",
"display" : "Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome"
},
{
"code" : "2440",
"display" : "Isolated split hand-split foot malformation"
},
{
"code" : "2459",
"display" : "Mansonelliasis"
},
{
"code" : "2464",
"display" : "Marfanoid syndrome, De Silva type"
},
{
"code" : "2470",
"display" : "Matthew-Wood syndrome"
},
{
"code" : "2476",
"display" : "Dysraphism-cleft lip/palate-limb reduction defects syndrome"
},
{
"code" : "2483",
"display" : "Melkersson-Rosenthal syndrome"
},
{
"code" : "2501",
"display" : "Metaphyseal chondrodysplasia, Spahr type"
},
{
"code" : "2512",
"display" : "Autosomal recessive primary microcephaly"
},
{
"code" : "2526",
"display" : "Microcephaly-lymphedema-chorioretinopathy syndrome"
},
{
"code" : "2528",
"display" : "Microcephaly-microcornea syndrome, Seemanova type"
},
{
"code" : "2564",
"display" : "Tetramelic monodactyly"
},
{
"code" : "2566",
"display" : "Chronic Epstein-Barr virus infection syndrome"
},
{
"code" : "2574",
"display" : "Moynahan syndrome"
},
{
"code" : "2589",
"display" : "Myoclonus-cerebellar ataxia-deafness syndrome"
},
{
"code" : "2613",
"display" : "Nail-patella-like renal disease"
},
{
"code" : "2614",
"display" : "Nail-patella syndrome"
},
{
"code" : "2617",
"display" : "Microcephalic primordial dwarfism, Montreal type"
},
{
"code" : "2645",
"display" : "Osteoglosphonic dysplasia"
},
{
"code" : "2662",
"display" : "Keipert syndrome"
},
{
"code" : "2670",
"display" : "Pierson syndrome"
},
{
"code" : "2671",
"display" : "Neu-Laxova syndrome"
},
{
"code" : "2672",
"display" : "Neuhauser-Eichner-Opitz syndrome"
},
{
"code" : "2673",
"display" : "Neurofaciodigitorenal syndrome"
},
{
"code" : "2678",
"display" : "Familial isolated café-au-lait macules"
},
{
"code" : "2695",
"display" : "Bifid nose"
},
{
"code" : "2709",
"display" : "Oculodental syndrome, Rutherfurd type"
},
{
"code" : "2712",
"display" : "Oculofaciocardiodental syndrome"
},
{
"code" : "2800",
"display" : "Extramammary Paget disease"
},
{
"code" : "2805",
"display" : "Partial pancreatic agenesis"
},
{
"code" : "2815",
"display" : "Spastic paraparesis-deafness syndrome"
},
{
"code" : "2818",
"display" : "Spastic paraplegia-glaucoma-intellectual disability syndrome"
},
{
"code" : "2821",
"display" : "Spastic paraplegia-neuropathy-poikiloderma syndrome"
},
{
"code" : "2824",
"display" : "Paraplegia-intellectual disability-hyperkeratosis syndrome"
},
{
"code" : "2836",
"display" : "PEHO syndrome"
},
{
"code" : "2840",
"display" : "Pelvic dysplasia-arthrogryposis of lower limbs syndrome"
},
{
"code" : "2843",
"display" : "Pentosuria"
},
{
"code" : "2847",
"display" : "Pericardial and diaphragmatic defect"
},
{
"code" : "2856",
"display" : "Persistent Müllerian duct syndrome"
},
{
"code" : "2898",
"display" : "X-linked intellectual disability-plagiocephaly syndrome"
},
{
"code" : "2905",
"display" : "POEMS syndrome"
},
{
"code" : "2909",
"display" : "Rothmund-Thomson syndrome"
},
{
"code" : "2921",
"display" : "Preaxial polydactyly-colobomata-intellectual disability syndrome"
},
{
"code" : "2926",
"display" : "Digital extensor muscle aplasia-polyneuropathy"
},
{
"code" : "2940",
"display" : "Porencephaly"
},
{
"code" : "2957",
"display" : "Guttmacher syndrome"
},
{
"code" : "2989",
"display" : "Familial pterygium of the conjunctiva"
},
{
"code" : "2994",
"display" : "Short stature-craniofacial anomalies-genital hypoplasia syndrome"
},
{
"code" : "2997",
"display" : "Ptosis-vocal cord paralysis syndrome"
},
{
"code" : "3015",
"display" : "Radio-renal syndrome"
},
{
"code" : "3021",
"display" : "RAPADILINO syndrome"
},
{
"code" : "3023",
"display" : "External auditory canal atresia-vertical talus-hypertelorism syndrome"
},
{
"code" : "3080",
"display" : "Intellectual disability, Wolff type"
},
{
"code" : "3101",
"display" : "Richieri Costa-da Silva syndrome"
},
{
"code" : "3104",
"display" : "Robin sequence-oligodactyly syndrome"
},
{
"code" : "3111",
"display" : "Rotor syndrome"
},
{
"code" : "3132",
"display" : "Say-Barber-Miller syndrome"
},
{
"code" : "3161",
"display" : "Congenital pulmonary sequestration"
},
{
"code" : "3192",
"display" : "Supravalvular pulmonary stenosis"
},
{
"code" : "3193",
"display" : "Supravalvular aortic stenosis"
},
{
"code" : "3206",
"display" : "Stüve-Wiedemann syndrome"
},
{
"code" : "3217",
"display" : "Deafness-small bowel diverticulosis-neuropathy syndrome"
},
{
"code" : "3220",
"display" : "Deafness-enamel hypoplasia-nail defects syndrome"
},
{
"code" : "3226",
"display" : "Deafness-lymphedema-leukemia syndrome"
},
{
"code" : "3240",
"display" : "Central nervous system calcification-deafness-tubular acidosis-anemia syndrome"
},
{
"code" : "3253",
"display" : "Cleft lip/palate-ectodermal dysplasia syndrome"
},
{
"code" : "3268",
"display" : "Radioulnar synostosis-microcephaly-scoliosis syndrome"
},
{
"code" : "3292",
"display" : "Tel Hashomer camptodactyly syndrome"
},
{
"code" : "3306",
"display" : "Inverted duplicated chromosome 15 syndrome"
},
{
"code" : "3317",
"display" : "Thoracolaryngopelvic dysplasia"
},
{
"code" : "3339",
"display" : "Toriello-Lacassie-Droste syndrome"
},
{
"code" : "3352",
"display" : "Tricho-dento-osseous syndrome"
},
{
"code" : "25968",
"display" : "Benign occipital epilepsy"
},
{
"code" : "28378",
"display" : "Tyrosinemia type 2"
},
{
"code" : "31112",
"display" : "Dermatofibrosarcoma protuberans"
},
{
"code" : "31826",
"display" : "Ethylene glycol poisoning"
},
{
"code" : "33276",
"display" : "Kaposi sarcoma"
},
{
"code" : "33364",
"display" : "Trichothiodystrophy"
},
{
"code" : "33572",
"display" : "5-oxoprolinase deficiency"
},
{
"code" : "34528",
"display" : "Autosomal dominant primary hypomagnesemia with hypocalciuria"
},
{
"code" : "35099",
"display" : "Non-syndromic bicoronal craniosynostosis"
},
{
"code" : "35173",
"display" : "X-linked dominant chondrodysplasia punctata"
},
{
"code" : "35612",
"display" : "Nanophthalmos"
},
{
"code" : "35708",
"display" : "Aromatic L-amino acid decarboxylase deficiency"
},
{
"code" : "35878",
"display" : "Hyperinsulinism-hyperammonemia syndrome"
},
{
"code" : "38874",
"display" : "Dihydropyrimidinuria"
},
{
"code" : "39041",
"display" : "Omenn syndrome"
},
{
"code" : "41751",
"display" : "Bietti crystalline dystrophy"
},
{
"code" : "42665",
"display" : "Tietz syndrome"
},
{
"code" : "45453",
"display" : "Incessant infant ventricular tachycardia"
},
{
"code" : "46488",
"display" : "Linear IgA dermatosis"
},
{
"code" : "47159",
"display" : "Proximal renal tubular acidosis"
},
{
"code" : "48686",
"display" : "Primary effusion lymphoma"
},
{
"code" : "49042",
"display" : "Dentinogenesis imperfecta"
},
{
"code" : "50839",
"display" : "Cat-scratch disease"
},
{
"code" : "52427",
"display" : "Retinitis punctata albescens"
},
{
"code" : "52503",
"display" : "X-linked creatine transporter deficiency"
},
{
"code" : "53698",
"display" : "Myosin storage myopathy"
},
{
"code" : "54028",
"display" : "Plummer-Vinson syndrome"
},
{
"code" : "54368",
"display" : "Sarcocystosis"
},
{
"code" : "55595",
"display" : "TNP03-related limb-girdle muscular dystrophy D2"
},
{
"code" : "55596",
"display" : "HNRNPDL-related limb-girdle muscular dystrophy D3"
},
{
"code" : "55655",
"display" : "Pneumococcal meningitis"
},
{
"code" : "56304",
"display" : "Atelosteogenesis type II"
},
{
"code" : "56425",
"display" : "Cold agglutinin disease"
},
{
"code" : "60015",
"display" : "Enlarged parietal foramina"
},
{
"code" : "63273",
"display" : "Distal myopathy with posterior leg and anterior hand involvement"
},
{
"code" : "64722",
"display" : "Granulomatous mastitis"
},
{
"code" : "65743",
"display" : "Autosomal dominant multiple pterygium syndrome"
},
{
"code" : "66529",
"display" : "Tako-Tsubo cardiomyopathy"
},
{
"code" : "66634",
"display" : "Dilated cardiomyopathy with ataxia"
},
{
"code" : "67038",
"display" : "B-cell chronic lymphocytic leukemia"
},
{
"code" : "67039",
"display" : "Segmental odontomaxillary dysplasia"
},
{
"code" : "67042",
"display" : "Late-onset retinal degeneration"
},
{
"code" : "69076",
"display" : "Familial renal glucosuria"
},
{
"code" : "69085",
"display" : "Limb-mammary syndrome"
},
{
"code" : "69087",
"display" : "Naegeli-Franceschetti-Jadassohn syndrome"
},
{
"code" : "71279",
"display" : "CANOMAD syndrome"
},
{
"code" : "73229",
"display" : "HANAC syndrome"
},
{
"code" : "73230",
"display" : "Ossification anomalies-psychomotor developmental delay syndrome"
},
{
"code" : "73267",
"display" : "Non-24-hour sleep-wake syndrome"
},
{
"code" : "75233",
"display" : "Wolman disease"
},
{
"code" : "75381",
"display" : "Cystoid macular dystrophy"
},
{
"code" : "75508",
"display" : "Angioosteohypotrophic syndrome"
},
{
"code" : "77292",
"display" : "Infantile neurovisceral acid sphingomyelinase deficiency"
},
{
"code" : "77295",
"display" : "Odontoleukodystrophy"
},
{
"code" : "79083",
"display" : "PPARG-related familial partial lipodystrophy"
},
{
"code" : "79118",
"display" : "Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome"
},
{
"code" : "79129",
"display" : "Trichodysplasia-amelogenesis imperfecta syndrome"
},
{
"code" : "79144",
"display" : "Isolated congenital onychodysplasia"
},
{
"code" : "79145",
"display" : "Dowling-Degos disease"
},
{
"code" : "79149",
"display" : "Dermochondrocorneal dystrophy"
},
{
"code" : "79152",
"display" : "Disseminated superficial actinic porokeratosis"
},
{
"code" : "79235",
"display" : "Crigler-Najjar syndrome type 2"
},
{
"code" : "79244",
"display" : "Pyruvate dehydrogenase E2 deficiency"
},
{
"code" : "79246",
"display" : "Pyruvate dehydrogenase phosphatase deficiency"
},
{
"code" : "79255",
"display" : "GM1 gangliosidosis type 1"
},
{
"code" : "79259",
"display" : "Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib"
},
{
"code" : "79271",
"display" : "Sanfilippo syndrome type C"
},
{
"code" : "79284",
"display" : "Methylmalonic acidemia with homocystinuria type cblF"
},
{
"code" : "79292",
"display" : "Fish-eye disease"
},
{
"code" : "79303",
"display" : "Congenital bile acid synthesis defect type 2"
},
{
"code" : "79304",
"display" : "Progressive familial intrahepatic cholestasis type 2"
},
{
"code" : "79311",
"display" : "Vitamin B12-responsive methylmalonic acidemia type cblB"
},
{
"code" : "79315",
"display" : "D-2-hydroxyglutaric aciduria"
},
{
"code" : "79325",
"display" : "ALG8-CDG"
},
{
"code" : "79333",
"display" : "COG7-CDG"
},
{
"code" : "79350",
"display" : "3-phosphoserine phosphatase deficiency, infantile/juvenile form"
},
{
"code" : "79400",
"display" : "Localized epidermolysis bullosa simplex"
},
{
"code" : "79405",
"display" : "Junctional epidermolysis bullosa inversa"
},
{
"code" : "79406",
"display" : "Late-onset junctional epidermolysis bullosa"
},
{
"code" : "79411",
"display" : "Self-improving dystrophic epidermolysis bullosa"
},
{
"code" : "79431",
"display" : "Oculocutaneous albinism type 1A"
},
{
"code" : "79433",
"display" : "Oculocutaneous albinism type 3"
},
{
"code" : "79457",
"display" : "Maculopapular cutaneous mastocytosis"
},
{
"code" : "79483",
"display" : "Phakomatosis cesioflammea"
},
{
"code" : "79489",
"display" : "Macrocystic lymphatic malformation"
},
{
"code" : "79643",
"display" : "Autosomal recessive hyperinsulinism due to SUR1 deficiency"
},
{
"code" : "83463",
"display" : "Microtia"
},
{
"code" : "83469",
"display" : "Desmoplastic small round cell tumor"
},
{
"code" : "83472",
"display" : "CAMOS syndrome"
},
{
"code" : "83473",
"display" : "Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome"
},
{
"code" : "83482",
"display" : "Mycoplasma encephalitis"
},
{
"code" : "83595",
"display" : "Colorado tick fever"
},
{
"code" : "83597",
"display" : "Acute disseminated encephalomyelitis"
},
{
"code" : "83629",
"display" : "Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome"
},
{
"code" : "84065",
"display" : "Idiopathic malabsorption due to bile acid synthesis defects"
},
{
"code" : "84085",
"display" : "Hinman syndrome"
},
{
"code" : "84087",
"display" : "Collagen type III glomerulopathy"
},
{
"code" : "85146",
"display" : "Neurogenic scapuloperoneal syndrome, Kaeser type"
},
{
"code" : "85169",
"display" : "Familial digital arthropathy-brachydactyly"
},
{
"code" : "85195",
"display" : "Familial expansile osteolysis"
},
{
"code" : "85294",
"display" : "X-linked epilepsy-learning disabilities-behavior disorders syndrome"
},
{
"code" : "85295",
"display" : "HSD10 disease, atypical type"
},
{
"code" : "85323",
"display" : "X-linked intellectual disability, Seemanova type"
},
{
"code" : "85326",
"display" : "X-linked intellectual disability, Stoll type"
},
{
"code" : "85408",
"display" : "Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis"
},
{
"code" : "85410",
"display" : "Oligoarticular juvenile idiopathic arthritis"
},
{
"code" : "85442",
"display" : "Short stature-pituitary and cerebellar defects-small sella turcica syndrome"
},
{
"code" : "86789",
"display" : "Patella aplasia/hypoplasia"
},
{
"code" : "86814",
"display" : "Benign adult familial myoclonic epilepsy"
},
{
"code" : "86829",
"display" : "Chronic neutrophilic leukemia"
},
{
"code" : "86864",
"display" : "Heavy chain disease"
},
{
"code" : "86873",
"display" : "Aggressive NK-cell leukemia"
},
{
"code" : "86875",
"display" : "Adult T-cell leukemia/lymphoma"
},
{
"code" : "87503",
"display" : "Mal de Meleda"
},
{
"code" : "88620",
"display" : "Isolated congenital anosmia"
},
{
"code" : "88629",
"display" : "Tritanopia"
},
{
"code" : "88642",
"display" : "Congenital insensitivity to pain-anosmia-neuropathic arthropathy"
},
{
"code" : "88659",
"display" : "Autosomal dominant progressive nephropathy with hypertension"
},
{
"code" : "89844",
"display" : "Lissencephaly syndrome, Norman-Roberts type"
},
{
"code" : "90001",
"display" : "X-linked cone dysfunction syndrome with myopia"
},
{
"code" : "90030",
"display" : "Hemolytic anemia due to glutathione reductase deficiency"
},
{
"code" : "90051",
"display" : "Sepsis in premature infants"
},
{
"code" : "90291",
"display" : "Systemic sclerosis"
},
{
"code" : "90308",
"display" : "Klippel-Trénaunay syndrome"
},
{
"code" : "90348",
"display" : "Autosomal dominant cutis laxa"
},
{
"code" : "90349",
"display" : "Autosomal recessive cutis laxa type 1"
},
{
"code" : "90393",
"display" : "Nodular lichen myxedematosus"
},
{
"code" : "90397",
"display" : "Self-healing papular mucinosis"
},
{
"code" : "90641",
"display" : "Rare mitochondrial non-syndromic sensorineural deafness"
},
{
"code" : "90654",
"display" : "Stickler syndrome type 2"
},
{
"code" : "90658",
"display" : "Charcot-Marie-Tooth disease type 1E"
},
{
"code" : "91411",
"display" : "Congenital ptosis"
},
{
"code" : "91414",
"display" : "Pilomatrixoma"
},
{
"code" : "91481",
"display" : "Ring dermoid of cornea"
},
{
"code" : "91489",
"display" : "Isolated congenital megalocornea"
},
{
"code" : "91490",
"display" : "Isolated congenital sclerocornea"
},
{
"code" : "91498",
"display" : "Familial congenital palsy of trochlear nerve"
},
{
"code" : "91546",
"display" : "Lyme disease"
},
{
"code" : "93110",
"display" : "Posterior urethral valve"
},
{
"code" : "93160",
"display" : "Hypocalcemic vitamin D-resistant rickets"
},
{
"code" : "93173",
"display" : "Renal dysplasia, bilateral"
},
{
"code" : "93262",
"display" : "Crouzon syndrome-acanthosis nigricans syndrome"
},
{
"code" : "93296",
"display" : "Achondrogenesis type 2"
},
{
"code" : "93320",
"display" : "Ulnar hemimelia"
},
{
"code" : "93338",
"display" : "Polysyndactyly"
},
{
"code" : "93352",
"display" : "Spondyloepimetaphyseal dysplasia, Shohat type"
},
{
"code" : "93356",
"display" : "Spondyloepimetaphyseal dysplasia, Missouri type"
},
{
"code" : "93387",
"display" : "Brachydactyly type E"
},
{
"code" : "93394",
"display" : "Brachydactyly type A4"
},
{
"code" : "93568",
"display" : "Juvenile polymyositis"
},
{
"code" : "93583",
"display" : "Congenital thrombotic thrombocytopenic purpura"
},
{
"code" : "93606",
"display" : "Nephrogenic syndrome of inappropriate antidiuresis"
},
{
"code" : "93607",
"display" : "Autosomal recessive proximal renal tubular acidosis"
},
{
"code" : "93610",
"display" : "Distal renal tubular acidosis with anemia"
},
{
"code" : "93945",
"display" : "X-linked intellectual disability, Porteous type"
},
{
"code" : "94080",
"display" : "Non-functioning paraganglioma"
},
{
"code" : "95428",
"display" : "COG8-CDG"
},
{
"code" : "95448",
"display" : "Congenital aortic valve atresia"
},
{
"code" : "95457",
"display" : "Tricuspid valve agenesis"
},
{
"code" : "95486",
"display" : "Premature closure of the arterial duct"
},
{
"code" : "95496",
"display" : "Pituitary stalk interruption syndrome"
},
{
"code" : "95626",
"display" : "Acquired central diabetes insipidus"
},
{
"code" : "95702",
"display" : "X-linked adrenal hypoplasia congenita"
},
{
"code" : "95706",
"display" : "Non-syndromic posterior hypospadias"
},
{
"code" : "96061",
"display" : "Mosaic trisomy 8"
},
{
"code" : "96070",
"display" : "Distal duplication 2p"
},
{
"code" : "96074",
"display" : "Distal duplication 7p"
},
{
"code" : "96098",
"display" : "Distal duplication 6q"
},
{
"code" : "96123",
"display" : "Monosomy 22"
},
{
"code" : "96167",
"display" : "Recombinant 8 syndrome"
},
{
"code" : "96183",
"display" : "Maternal uniparental disomy of chromosome 9"
},
{
"code" : "96186",
"display" : "Maternal uniparental disomy of chromosome 20"
},
{
"code" : "96192",
"display" : "Paternal uniparental disomy of chromosome 7"
},
{
"code" : "96195",
"display" : "Paternal uniparental disomy of chromosome 21"
},
{
"code" : "96264",
"display" : "49,XXXXY syndrome"
},
{
"code" : "97285",
"display" : "Thyroid lymphoma"
},
{
"code" : "97292",
"display" : "Cardiogenic shock"
},
{
"code" : "97337",
"display" : "Sinding-Larsen-Johansson disease"
},
{
"code" : "97340",
"display" : "Hunter-McAlpine syndrome"
},
{
"code" : "97364",
"display" : "Bilateral multicystic dysplastic kidney"
},
{
"code" : "97548",
"display" : "Right sided atrial isomerism"
},
{
"code" : "97685",
"display" : "17q11 microdeletion syndrome"
},
{
"code" : "98676",
"display" : "Autosomal recessive isolated optic atrophy"
},
{
"code" : "98758",
"display" : "Spinocerebellar ataxia type 6"
},
{
"code" : "98763",
"display" : "Spinocerebellar ataxia type 14"
},
{
"code" : "98768",
"display" : "Spinocerebellar ataxia type 13"
},
{
"code" : "98772",
"display" : "Spinocerebellar ataxia type 19/22"
},
{
"code" : "98795",
"display" : "Angelman syndrome due to paternal uniparental disomy of chromosome 15"
},
{
"code" : "98809",
"display" : "Paroxysmal kinesigenic dyskinesia"
},
{
"code" : "98810",
"display" : "Paroxysmal non-kinesigenic dyskinesia"
},
{
"code" : "98829",
"display" : "Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)"
},
{
"code" : "98852",
"display" : "Desquamative interstitial pneumonia"
},
{
"code" : "98893",
"display" : "Congenital muscular dystrophy type 1B"
},
{
"code" : "98895",
"display" : "Becker muscular dystrophy"
},
{
"code" : "98904",
"display" : "Congenital myopathy with excess of thin filaments"
},
{
"code" : "98919",
"display" : "Miller Fisher syndrome"
},
{
"code" : "98920",
"display" : "Spinal muscular atrophy with respiratory distress type 1"
},
{
"code" : "98946",
"display" : "Coloboma of eyelid"
},
{
"code" : "98973",
"display" : "Posterior polymorphous corneal dystrophy"
},
{
"code" : "99046",
"display" : "Double outlet right ventricle with non-committed subpulmonary ventricular septal defect"
},
{
"code" : "99048",
"display" : "Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome"
},
{
"code" : "99051",
"display" : "Discrete fixed membranous subaortic stenosis"
},
{
"code" : "99055",
"display" : "Congenital anomaly of the tricuspid valve chordae"
},
{
"code" : "99056",
"display" : "Parachute tricuspid valve"
},
{
"code" : "99059",
"display" : "Congenital supravalvular mitral ring"
},
{
"code" : "99060",
"display" : "Congenital unguarded mitral orifice"
},
{
"code" : "99067",
"display" : "Complete atrioventricular septal defect with ventricular hypoplasia"
},
{
"code" : "99075",
"display" : "Encircling double aortic arch"
},
{
"code" : "99103",
"display" : "Atrial septal defect, ostium secundum type"
},
{
"code" : "99106",
"display" : "Atrial septal defect, ostium primum type"
},
{
"code" : "99109",
"display" : "Persistent left superior vena cava connecting through coronary sinus to left-sided atrium"
},
{
"code" : "99126",
"display" : "Congenital pulmonary vein atresia"
},
{
"code" : "99135",
"display" : "6-phosphogluconate dehydrogenase deficiency"
},
{
"code" : "99170",
"display" : "Tarsal kink syndrome"
},
{
"code" : "99172",
"display" : "Euryblepharon"
},
{
"code" : "99657",
"display" : "Primary dystonia, DYT2 type"
},
{
"code" : "99735",
"display" : "Myotonia permanens"
},
{
"code" : "99741",
"display" : "King-Denborough syndrome"
},
{
"code" : "99742",
"display" : "Amish lethal microcephaly"
},
{
"code" : "99771",
"display" : "Bifid uvula"
},
{
"code" : "99797",
"display" : "Anodontia"
},
{
"code" : "99818",
"display" : "Turcot syndrome with polyposis"
},
{
"code" : "99826",
"display" : "Marburg hemorrhagic fever"
},
{
"code" : "99832",
"display" : "Resistance to thyrotropin-releasing hormone syndrome"
},
{
"code" : "99845",
"display" : "Genetic recurrent myoglobinuria"
},
{
"code" : "99868",
"display" : "Thymic carcinoma"
},
{
"code" : "99869",
"display" : "Thymic neuroendocrine carcinoma"
},
{
"code" : "99916",
"display" : "Malignant Sertoli-Leydig cell tumor of the ovary"
},
{
"code" : "99931",
"display" : "Idiopathic pulmonary hemosiderosis"
},
{
"code" : "99941",
"display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2G"
},
{
"code" : "99942",
"display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2I"
},
{
"code" : "99946",
"display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2A1"
},
{
"code" : "99949",
"display" : "Charcot-Marie-Tooth disease type 4C"
},
{
"code" : "99954",
"display" : "Charcot-Marie-Tooth disease type 4H"
},
{
"code" : "100003",
"display" : "Intraneural perineurioma"
},
{
"code" : "100032",
"display" : "Hypocalcified amelogenesis imperfecta"
},
{
"code" : "100057",
"display" : "Renin-angiotensin-aldosterone system-blocker-induced angioedema"
},
{
"code" : "100071",
"display" : "Mosaic trisomy 3"
},
{
"code" : "100078",
"display" : "Ileal neuroendocrine tumor"
},
{
"code" : "100079",
"display" : "Neuroendocrine neoplasm of appendix"
},
{
"code" : "100082",
"display" : "Neuroendocrine tumor of anal canal"
},
{
"code" : "100093",
"display" : "Carcinoid syndrome"
},
{
"code" : "101011",
"display" : "Autosomal dominant spastic paraplegia type 31"
},
{
"code" : "101028",
"display" : "Transaldolase deficiency"
},
{
"code" : "101046",
"display" : "Autosomal dominant epilepsy with auditory features"
},
{
"code" : "101049",
"display" : "Familial hypocalciuric hypercalcemia type 2"
},
{
"code" : "101063",
"display" : "Situs inversus totalis"
},
{
"code" : "101085",
"display" : "Charcot-Marie-Tooth disease type 1F"
},
{
"code" : "101110",
"display" : "Spinocerebellar ataxia type 20"
},
{
"code" : "104076",
"display" : "Leiomyosarcoma of small intestine"
},
{
"code" : "137602",
"display" : "Corneal endotheliitis"
},
{
"code" : "137605",
"display" : "Legius syndrome"
},
{
"code" : "137667",
"display" : "Capillary malformation-arteriovenous malformation"
},
{
"code" : "137686",
"display" : "Asherman syndrome"
},
{
"code" : "137814",
"display" : "Macular amyloidosis"
},
{
"code" : "137831",
"display" : "X-linked intellectual disability-cerebellar hypoplasia syndrome"
},
{
"code" : "137867",
"display" : "Madras motor neuron disease"
},
{
"code" : "137908",
"display" : "Hypotonia with lactic acidemia and hyperammonemia"
},
{
"code" : "137917",
"display" : "Choanal atresia, unilateral"
},
{
"code" : "139402",
"display" : "Drug reaction with eosinophilia and systemic symptoms"
},
{
"code" : "139547",
"display" : "Distal spinal muscular atrophy type 3"
},
{
"code" : "140436",
"display" : "Primary intraosseous venous malformation"
},
{
"code" : "140944",
"display" : "CLOVES syndrome"
},
{
"code" : "140963",
"display" : "Bilateral microtia-deafness-cleft palate syndrome"
},
{
"code" : "140989",
"display" : "Primary angiitis of the central nervous system"
},
{
"code" : "141077",
"display" : "Epignathus"
},
{
"code" : "141096",
"display" : "Supernumerary nostril"
},
{
"code" : "141118",
"display" : "Nasal encephalocele"
},
{
"code" : "141127",
"display" : "Congenital tracheal stenosis"
},
{
"code" : "141239",
"display" : "Median cleft of the upper lip and maxilla"
},
{
"code" : "141333",
"display" : "Biemond syndrome type 2"
},
{
"code" : "155838",
"display" : "Pinnae fistula or cyst"
},
{
"code" : "155884",
"display" : "Coloboma of superior eyelid"
},
{
"code" : "156728",
"display" : "Spondyloepimetaphyseal dysplasia, matrilin-3 type"
},
{
"code" : "157798",
"display" : "Serrated polyposis syndrome"
},
{
"code" : "157808",
"display" : "Congenital pseudoarthrosis of the limbs"
},
{
"code" : "157826",
"display" : "Congenital epulis"
},
{
"code" : "157832",
"display" : "Craniorhiny"
},
{
"code" : "157846",
"display" : "Neuroferritinopathy"
},
{
"code" : "157962",
"display" : "Oculoauricular syndrome, Schorderet type"
},
{
"code" : "157965",
"display" : "SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome"
},
{
"code" : "157997",
"display" : "Benign cephalic histiocytosis"
},
{
"code" : "158014",
"display" : "Rosaï-Dorfman disease"
},
{
"code" : "158048",
"display" : "Hemophagocytic syndrome associated with an infection"
},
{
"code" : "158775",
"display" : "Smoldering systemic mastocytosis"
},
{
"code" : "163699",
"display" : "Alveolar soft tissue sarcoma"
},
{
"code" : "163931",
"display" : "Acrodermatitis continua of Hallopeau"
},
{
"code" : "163934",
"display" : "Atopic keratoconjunctivitis"
},
{
"code" : "165991",
"display" : "Exercise-induced hyperinsulinism"
},
{
"code" : "166073",
"display" : "Pontocerebellar hypoplasia type 6"
},
{
"code" : "166119",
"display" : "Isolated osteopoikilosis"
},
{
"code" : "166260",
"display" : "Dentinogenesis imperfecta type 2"
},
{
"code" : "166308",
"display" : "Benign infantile focal epilepsy with midline spikes and waves during sleep"
},
{
"code" : "166415",
"display" : "Audiogenic seizures"
},
{
"code" : "168454",
"display" : "Spondyloepimetaphyseal dysplasia, Geneviève type"
},
{
"code" : "168544",
"display" : "Spondylometaphyseal dysplasia, Golden type"
},
{
"code" : "168601",
"display" : "Congenital enteropathy due to enteropeptidase deficiency"
},
{
"code" : "168612",
"display" : "Congenital deficiency in alpha-fetoprotein"
},
{
"code" : "168984",
"display" : "CLAPO syndrome"
},
{
"code" : "169085",
"display" : "Susceptibility to respiratory infections associated with CD8alpha chain mutation"
},
{
"code" : "169110",
"display" : "Immunoglobulin heavy chain deficiency"
},
{
"code" : "169799",
"display" : "Mild hemophilia B"
},
{
"code" : "171220",
"display" : "Rectal duplication"
},
{
"code" : "171433",
"display" : "Intermediate nemaline myopathy"
},
{
"code" : "171442",
"display" : "Adult-onset nemaline myopathy"
},
{
"code" : "171680",
"display" : "Lissencephaly due to TUBA1A mutation"
},
{
"code" : "171719",
"display" : "Cutis laxa-Marfanoid syndrome"
},
{
"code" : "171723",
"display" : "White sponge nevus"
},
{
"code" : "178311",
"display" : "Isolated sternocostoclavicular hyperostosis"
},
{
"code" : "178364",
"display" : "Syndromic microphthalmia type 5"
},
{
"code" : "178461",
"display" : "X-linked myopathy with postural muscle atrophy"
},
{
"code" : "178522",
"display" : "Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma"
},
{
"code" : "179490",
"display" : "Obesity due to congenital leptin resistance"
},
{
"code" : "180074",
"display" : "True unicornuate uterus"
},
{
"code" : "180129",
"display" : "Partial septate uterus"
},
{
"code" : "180154",
"display" : "Septate vagina"
},
{
"code" : "180157",
"display" : "Longitudinal vaginal septum"
},
{
"code" : "180160",
"display" : "Transverse vaginal septum"
},
{
"code" : "180176",
"display" : "Familial juvenile hypertrophy of the breast"
},
{
"code" : "180267",
"display" : "Giant adenofibroma of the breast"
},
{
"code" : "180275",
"display" : "Paget disease of the nipple"
},
{
"code" : "189466",
"display" : "Familial isolated hypoparathyroidism due to impaired PTH secretion"
},
{
"code" : "199293",
"display" : "Congenital microgastria"
},
{
"code" : "199340",
"display" : "Muscular dystrophy, Selcen type"
},
{
"code" : "199343",
"display" : "EAST syndrome"
},
{
"code" : "199647",
"display" : "Isolated encephalocele"
},
{
"code" : "206443",
"display" : "Late-infantile/juvenile Krabbe disease"
},
{
"code" : "206489",
"display" : "Malignant germ cell tumor of the vagina"
},
{
"code" : "209341",
"display" : "DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy"
},
{
"code" : "209970",
"display" : "Episodic ataxia type 7"
},
{
"code" : "210115",
"display" : "Sterile multifocal osteomyelitis with periostitis and pustulosis"
},
{
"code" : "210133",
"display" : "Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome"
},
{
"code" : "210159",
"display" : "Adult hepatocellular carcinoma"
},
{
"code" : "210548",
"display" : "Macrocephaly-intellectual disability-autism syndrome"
},
{
"code" : "210584",
"display" : "Spindle cell hemangioma"
},
{
"code" : "213802",
"display" : "Rhabdomyosarcoma of the cervix uteri"
},
{
"code" : "216828",
"display" : "Osteogenesis imperfecta type 5"
},
{
"code" : "217008",
"display" : "Bockenheimer syndrome"
},
{
"code" : "217059",
"display" : "Isolated congenital digital clubbing"
},
{
"code" : "217085",
"display" : "Mucopolysaccharidosis type 2, severe form"
},
{
"code" : "217330",
"display" : "REN-related autosomal dominant tubulointerstitial kidney disease"
},
{
"code" : "217467",
"display" : "Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency"
},
{
"code" : "220493",
"display" : "Joubert syndrome with ocular defect"
},
{
"code" : "221098",
"display" : "Glossopharyngeal neuralgia"
},
{
"code" : "226316",
"display" : "Genetic transient congenital hypothyroidism"
},
{
"code" : "227976",
"display" : "Autosomal recessive optic atrophy, OPA7 type"
},
{
"code" : "227990",
"display" : "Autoimmune polyendocrinopathy type 4"
},
{
"code" : "228165",
"display" : "Baló concentric sclerosis"
},
{
"code" : "228169",
"display" : "Autosomal dominant striatal neurodegeneration"
},
{
"code" : "228337",
"display" : "CLN10 disease"
},
{
"code" : "228426",
"display" : "Syndromic multisystem autoimmune disease due to Itch deficiency"
},
{
"code" : "229717",
"display" : "Isolated agammaglobulinemia"
},
{
"code" : "230800",
"display" : "Toxin-mediated infectious botulism"
},
{
"code" : "230839",
"display" : "Classical-like Ehlers-Danlos syndrome type 1"
},
{
"code" : "231147",
"display" : "Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11"
},
{
"code" : "231500",
"display" : "Hermansky-Pudlak syndrome due to BLOC-3 deficiency"
},
{
"code" : "231580",
"display" : "Primary unilateral adrenal hyperplasia"
},
{
"code" : "231736",
"display" : "Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome"
},
{
"code" : "238459",
"display" : "SLC35A1-CDG"
},
{
"code" : "238475",
"display" : "Familial hypercholanemia"
},
{
"code" : "238578",
"display" : "Familial clubfoot due to 17q23.1q23.2 microduplication"
},
{
"code" : "238650",
"display" : "Congenital primary megaureter, refluxing form"
},
{
"code" : "238654",
"display" : "Congenital primary megaureter, nonrefluxing and unobstructed form"
},
{
"code" : "240760",
"display" : "Nijmegen breakage syndrome-like disorder"
},
{
"code" : "244275",
"display" : "De novo thrombotic microangiopathy after kidney transplantation"
},
{
"code" : "247203",
"display" : "Collecting duct carcinoma"
},
{
"code" : "247585",
"display" : "Citrullinemia type II"
},
{
"code" : "247651",
"display" : "Infantile hypophosphatasia"
},
{
"code" : "247718",
"display" : "Inflammatory myopathy with abundant macrophages"
},
{
"code" : "247790",
"display" : "FTH1-related iron overload"
},
{
"code" : "248408",
"display" : "Familial hypodysfibrinogenemia"
},
{
"code" : "250831",
"display" : "Logopenic progressive aphasia"
},
{
"code" : "251014",
"display" : "2q31.1 microdeletion syndrome"
},
{
"code" : "251066",
"display" : "8p11.2 deletion syndrome"
},
{
"code" : "251325",
"display" : "Drug-induced vasculitis"
},
{
"code" : "251589",
"display" : "Anaplastic astrocytoma"
},
{
"code" : "251598",
"display" : "Protoplasmic astrocytoma"
},
{
"code" : "251646",
"display" : "Anaplastic ependymoma"
},
{
"code" : "251863",
"display" : "Desmoplastic/nodular medulloblastoma"
},
{
"code" : "251912",
"display" : "Pineocytoma"
},
{
"code" : "251992",
"display" : "Ganglioneuroma"
},
{
"code" : "252015",
"display" : "Choriocarcinoma of the central nervous system"
},
{
"code" : "252031",
"display" : "Diffuse leptomeningeal melanocytosis"
},
{
"code" : "252183",
"display" : "Neurofibroma"
},
{
"code" : "254411",
"display" : "Annular atrophic lichen planus"
},
{
"code" : "254492",
"display" : "Frontal fibrosing alopecia"
},
{
"code" : "254704",
"display" : "Genetic hyperferritinemia without iron overload"
},
{
"code" : "254854",
"display" : "Pure mitochondrial myopathy"
},
{
"code" : "254886",
"display" : "Autosomal recessive progressive external ophthalmoplegia"
},
{
"code" : "254930",
"display" : "Combined oxidative phosphorylation defect type 7"
},
{
"code" : "255235",
"display" : "Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy"
},
{
"code" : "261183",
"display" : "15q11.2 microdeletion syndrome"
},
{
"code" : "261229",
"display" : "14q11.2 microduplication syndrome"
},
{
"code" : "261257",
"display" : "Distal 17p13.3 microdeletion syndrome"
},
{
"code" : "261311",
"display" : "20q13.33 microdeletion syndrome"
},
{
"code" : "261483",
"display" : "Xq27.3q28 duplication syndrome"
},
{
"code" : "261619",
"display" : "Alagille syndrome due to a JAG1 point mutation"
},
{
"code" : "263482",
"display" : "Spondyloepiphyseal dysplasia, Maroteaux type"
},
{
"code" : "268129",
"display" : "Spheroid body myopathy"
},
{
"code" : "268322",
"display" : "Hereditary thrombocytopenia with normal platelets"
},
{
"code" : "268936",
"display" : "Isolated arhinencephaly"
},
{
"code" : "269206",
"display" : "Isolated total cerebellar vermis agenesis"
},
{
"code" : "269215",
"display" : "Isolated Dandy-Walker malformation without hydrocephalus"
},
{
"code" : "275543",
"display" : "L1 syndrome"
},
{
"code" : "276234",
"display" : "Non-syndromic male infertility due to sperm motility disorder"
},
{
"code" : "276422",
"display" : "10q22.3q23.3 microduplication syndrome"
},
{
"code" : "279888",
"display" : "Acute endophthalmitis"
},
{
"code" : "279904",
"display" : "Primary intraocular lymphoma"
},
{
"code" : "279919",
"display" : "Infectious posterior uveitis"
},
{
"code" : "280068",
"display" : "Visceral calciphylaxis"
},
{
"code" : "280282",
"display" : "Pelizaeus-Merzbacher-like disease due to GJC2 mutation"
},
{
"code" : "280406",
"display" : "Familial steroid-resistant nephrotic syndrome with sensorineural deafness"
},
{
"code" : "280598",
"display" : "Hereditary sensorimotor neuropathy with hyperelastic skin"
},
{
"code" : "280628",
"display" : "Familial progressive hyper- and hypopigmentation"
},
{
"code" : "280633",
"display" : "Multiple congenital anomalies-hypotonia-seizures syndrome"
},
{
"code" : "280654",
"display" : "Autosomal recessive nail dysplasia"
},
{
"code" : "280821",
"display" : "Communicating congenital bronchopulmonary-foregut malformation"
},
{
"code" : "284149",
"display" : "Craniosynostosis-dental anomalies"
},
{
"code" : "284417",
"display" : "Phosphoserine aminotransferase deficiency, infantile/juvenile form"
},
{
"code" : "284460",
"display" : "Acute annular outer retinopathy"
},
{
"code" : "289362",
"display" : "Non-central nervous system-localized embryonal carcinoma"
},
{
"code" : "289465",
"display" : "Isolated congenital adermatoglyphia"
},
{
"code" : "289504",
"display" : "Combined malonic and methylmalonic acidemia"
},
{
"code" : "289539",
"display" : "BAP1-related tumor predisposition syndrome"
},
{
"code" : "289560",
"display" : "Mitochondrial membrane protein-associated neurodegeneration"
},
{
"code" : "293165",
"display" : "Skin fragility-woolly hair-palmoplantar keratoderma syndrome"
},
{
"code" : "293208",
"display" : "Celiac artery compression syndrome"
},
{
"code" : "293633",
"display" : "PYCR1-related De Barsy syndrome"
},
{
"code" : "293707",
"display" : "Blepharophimosis-intellectual disability syndrome, MKB type"
},
{
"code" : "293812",
"display" : "Fixed drug eruption"
},
{
"code" : "293822",
"display" : "MITF-related melanoma and renal cell carcinoma predisposition syndrome"
},
{
"code" : "293899",
"display" : "Familial isolated arrhythmogenic ventricular dysplasia, biventricular form"
},
{
"code" : "293910",
"display" : "Familial isolated arrhythmogenic ventricular dysplasia, right dominant form"
},
{
"code" : "293964",
"display" : "Hypoinsulinemic hypoglycemia and body hemihypertrophy"
},
{
"code" : "294988",
"display" : "Congenital hypoplasia of thumb"
},
{
"code" : "295014",
"display" : "Familial isolated clinodactyly of fingers"
},
{
"code" : "295022",
"display" : "Congenital pseudoarthrosis of the fibula"
},
{
"code" : "295024",
"display" : "Congenital pseudoarthrosis of the radius"
},
{
"code" : "295215",
"display" : "Humero-ulnar synostosis, bilateral"
},
{
"code" : "295227",
"display" : "Congenital elbow dislocation, bilateral"
},
{
"code" : "295232",
"display" : "Congenital genu flexum"
},
{
"code" : "300373",
"display" : "X-linked acrogigantism"
},
{
"code" : "300552",
"display" : "Follicular cholangitis and pancreatitis"
},
{
"code" : "300849",
"display" : "Diffuse large B-cell lymphoma of the central nervous system"
},
{
"code" : "300857",
"display" : "T-cell/histiocyte rich large B cell lymphoma"
},
{
"code" : "300865",
"display" : "Primary cutaneous anaplastic large cell lymphoma"
},
{
"code" : "306516",
"display" : "Primary hypomagnesemia with hypercalciuria and nephrocalcinosis"
},
{
"code" : "306553",
"display" : "Myospherulosis"
},
{
"code" : "307936",
"display" : "Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome"
},
{
"code" : "308655",
"display" : "Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form"
},
{
"code" : "309252",
"display" : "Atypical Gaucher disease due to saposin C deficiency"
},
{
"code" : "313892",
"display" : "Developmental and speech delay due to SOX5 deficiency"
},
{
"code" : "314022",
"display" : "Gastric adenocarcinoma and proximal polyposis of the stomach"
},
{
"code" : "314029",
"display" : "High bone mass osteogenesis imperfecta"
},
{
"code" : "314034",
"display" : "7p22.1 microduplication syndrome"
},
{
"code" : "314051",
"display" : "Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome"
},
{
"code" : "314373",
"display" : "Chronic infantile diarrhea due to guanylate cyclase 2C overactivity"
},
{
"code" : "314376",
"display" : "Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency"
},
{
"code" : "314381",
"display" : "Hereditary sensory and autonomic neuropathy type 6"
},
{
"code" : "314394",
"display" : "Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome"
},
{
"code" : "314399",
"display" : "Autosomal dominant aplasia and myelodysplasia"
},
{
"code" : "314451",
"display" : "Meigs syndrome"
},
{
"code" : "314478",
"display" : "Ovarian fibrothecoma"
},
{
"code" : "314566",
"display" : "Primary progressive apraxia of speech"
},
{
"code" : "314621",
"display" : "Duplication of the pituitary gland"
},
{
"code" : "314637",
"display" : "Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency"
},
{
"code" : "314769",
"display" : "Somatomammotropinoma"
},
{
"code" : "314795",
"display" : "SHOX-related short stature"
},
{
"code" : "314918",
"display" : "Mild Canavan disease"
},
{
"code" : "314993",
"display" : "Cataract-congenital heart disease-neural tube defect syndrome"
},
{
"code" : "317428",
"display" : "Combined immunodeficiency due to ORAI1 deficiency"
},
{
"code" : "319192",
"display" : "Diencephalic-mesencephalic junction dysplasia"
},
{
"code" : "319205",
"display" : "Bilateral massive adrenal hemorrhage"
},
{
"code" : "319218",
"display" : "Ebola hemorrhagic fever"
},
{
"code" : "319276",
"display" : "Clear cell renal carcinoma"
},
{
"code" : "319509",
"display" : "Combined oxidative phosphorylation defect type 9"
},
{
"code" : "319519",
"display" : "Combined oxidative phosphorylation defect type 14"
},
{
"code" : "319574",
"display" : "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency"
},
{
"code" : "319635",
"display" : "Amyloidosis cutis dyschromia"
},
{
"code" : "319646",
"display" : "PGM1-CDG"
},
{
"code" : "319675",
"display" : "Microcephalic primordial dwarfism, Dauber type"
},
{
"code" : "320396",
"display" : "Autosomal recessive spastic paraplegia type 45"
},
{
"code" : "320406",
"display" : "Spastic paraplegia-optic atrophy-neuropathy syndrome"
},
{
"code" : "324422",
"display" : "ALG13-CDG"
},
{
"code" : "324525",
"display" : "Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation"
},
{
"code" : "324604",
"display" : "Classic multiminicore myopathy"
},
{
"code" : "324723",
"display" : "ABeta amyloidosis, Arctic type"
},
{
"code" : "325345",
"display" : "46,XY ovotesticular difference of sex development"
},
{
"code" : "325529",
"display" : "Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency"
},
{
"code" : "329195",
"display" : "Developmental delay with autism spectrum disorder and gait instability"
},
{
"code" : "330064",
"display" : "Chronic actinic dermatitis"
},
{
"code" : "352596",
"display" : "Progressive myoclonic epilepsy with dystonia"
},
{
"code" : "352629",
"display" : "16q24.1 microdeletion syndrome"
},
{
"code" : "352675",
"display" : "X-linked Charcot-Marie-Tooth disease type 6"
},
{
"code" : "352731",
"display" : "Oculocutaneous albinism type 1"
},
{
"code" : "353217",
"display" : "Epileptic encephalopathy with global cerebral demyelination"
},
{
"code" : "353281",
"display" : "Rubinstein-Taybi syndrome due to 16p13.3 microdeletion"
},
{
"code" : "353351",
"display" : "Idiopathic macular telangiectasia type 3"
},
{
"code" : "357034",
"display" : "Non-hereditary retinoblastoma"
},
{
"code" : "357043",
"display" : "Amyotrophic lateral sclerosis type 4"
},
{
"code" : "357058",
"display" : "Autosomal recessive cutis laxa type 2A"
},
{
"code" : "357220",
"display" : "Primary essential cutis verticis gyrata"
},
{
"code" : "363417",
"display" : "Temtamy preaxial brachydactyly syndrome"
},
{
"code" : "363741",
"display" : "Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome"
},
{
"code" : "363969",
"display" : "Autosomal recessive cerebral atrophy"
},
{
"code" : "364013",
"display" : "Immune hydrops fetalis"
},
{
"code" : "364043",
"display" : "ALK-positive large B-cell lymphoma"
},
{
"code" : "369897",
"display" : "Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies"
},
{
"code" : "369929",
"display" : "Primary hyperaldosteronism-seizures-neurological abnormalities syndrome"
},
{
"code" : "370052",
"display" : "SCALP syndrome"
},
{
"code" : "370109",
"display" : "Ataxia-telangiectasia variant"
},
{
"code" : "370927",
"display" : "SSR4-CDG"
},
{
"code" : "391343",
"display" : "Fatal post-viral neurodegenerative disorder"
},
{
"code" : "391372",
"display" : "Intellectual disability-severe speech delay-mild dysmorphism syndrome"
},
{
"code" : "391392",
"display" : "Familial episodic pain syndrome with predominantly lower limb involvement"
},
{
"code" : "391641",
"display" : "Feingold syndrome type 1"
},
{
"code" : "397725",
"display" : "COASY protein-associated neurodegeneration"
},
{
"code" : "397937",
"display" : "Polyglucosan body myopathy type 1"
},
{
"code" : "398097",
"display" : "Neonatal antiphospholipid syndrome"
},
{
"code" : "398127",
"display" : "Neonatal scleroderma"
},
{
"code" : "399096",
"display" : "Distal anoctaminopathy"
},
{
"code" : "399307",
"display" : "Idiopathic avascular necrosis"
},
{
"code" : "401942",
"display" : "Familial median cleft of the upper and lower lips"
},
{
"code" : "401986",
"display" : "1p31p32 microdeletion syndrome"
},
{
"code" : "404440",
"display" : "Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency"
},
{
"code" : "404463",
"display" : "Multisystemic smooth muscle dysfunction syndrome"
},
{
"code" : "404466",
"display" : "Female infertility due to zona pellucida defect"
},
{
"code" : "404493",
"display" : "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency"
},
{
"code" : "411527",
"display" : "Central retinal vein occlusion"
},
{
"code" : "411536",
"display" : "Mild phosphoribosylpyrophosphate synthetase superactivity"
},
{
"code" : "411593",
"display" : "Insulin autoimmune syndrome"
},
{
"code" : "420556",
"display" : "Visual snow syndrome"
},
{
"code" : "420686",
"display" : "Woolly hair-palmoplantar keratoderma syndrome"
},
{
"code" : "424019",
"display" : "Squamous cell carcinoma of the anal canal"
},
{
"code" : "424027",
"display" : "Progressive myoclonic epilepsy type 8"
},
{
"code" : "424261",
"display" : "TOR1AIP1-related limb-girdle muscular dystrophy"
},
{
"code" : "424943",
"display" : "Adenocarcinoma of the liver and intrahepatic biliary tract"
},
{
"code" : "424991",
"display" : "Adenocarcinoma of the gallbladder and extrahepatic biliary tract"
},
{
"code" : "431341",
"display" : "Patent urachus"
},
{
"code" : "434179",
"display" : "Orofaciodigital syndrome type 14"
},
{
"code" : "438117",
"display" : "Steel syndrome"
},
{
"code" : "438279",
"display" : "Human infection by orthopoxvirus"
},
{
"code" : "439762",
"display" : "Systemic polyarteritis nodosa"
},
{
"code" : "439881",
"display" : "Plastic bronchitis"
},
{
"code" : "440437",
"display" : "Familial colorectal cancer Type X"
},
{
"code" : "440731",
"display" : "L-ferritin deficiency"
},
{
"code" : "443159",
"display" : "Lymphoplasmacytic lymphoma without IgM production"
},
{
"code" : "443162",
"display" : "NDE1-related microhydranencephaly"
},
{
"code" : "443192",
"display" : "Classic stiff person syndrome"
},
{
"code" : "443291",
"display" : "HIV-associated cancer"
},
{
"code" : "443804",
"display" : "Focal stiff limb syndrome"
},
{
"code" : "443995",
"display" : "Mandibulofacial dysostosis with alopecia"
},
{
"code" : "444048",
"display" : "46,XX ovarian dysgenesis-short stature syndrome"
},
{
"code" : "444051",
"display" : "20q11.2 microdeletion syndrome"
},
{
"code" : "444072",
"display" : "Cerebellar-facial-dental syndrome"
},
{
"code" : "444316",
"display" : "Idiopathic phalangeal acro-osteolysis"
},
{
"code" : "445038",
"display" : "3-methylglutaconic aciduria type 7"
},
{
"code" : "447757",
"display" : "Autosomal dominant spastic paraplegia type 9B"
},
{
"code" : "447760",
"display" : "Autosomal recessive spastic paraplegia type 9B"
},
{
"code" : "447774",
"display" : "Secondary sclerosing cholangitis"
},
{
"code" : "448267",
"display" : "Regressive spondylometaphyseal dysplasia"
},
{
"code" : "449432",
"display" : "IgG4-related submandibular gland disease"
},
{
"code" : "449566",
"display" : "Eosinophilic angiocentric fibrosis"
},
{
"code" : "453504",
"display" : "Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation"
},
{
"code" : "454706",
"display" : "Progressive muscular atrophy"
},
{
"code" : "454831",
"display" : "Acute radiation syndrome"
},
{
"code" : "454887",
"display" : "Corticobasal syndrome"
},
{
"code" : "7",
"display" : "3C syndrome"
},
{
"code" : "22",
"display" : "Succinic semialdehyde dehydrogenase deficiency"
},
{
"code" : "25",
"display" : "Glutaryl-CoA dehydrogenase deficiency"
},
{
"code" : "28",
"display" : "Vitamin B12-responsive methylmalonic acidemia"
},
{
"code" : "31",
"display" : "Oxoglutaric aciduria"
},
{
"code" : "32",
"display" : "Glutathione synthetase deficiency"
},
{
"code" : "42",
"display" : "Medium chain acyl-CoA dehydrogenase deficiency"
},
{
"code" : "51",
"display" : "Aicardi-Goutières syndrome"
},
{
"code" : "54",
"display" : "X-linked recessive ocular albinism"
},
{
"code" : "57",
"display" : "Glycogen storage disease due to aldolase A deficiency"
},
{
"code" : "61",
"display" : "Alpha-mannosidosis"
},
{
"code" : "72",
"display" : "Angelman syndrome"
},
{
"code" : "100",
"display" : "Ataxia-telangiectasia"
},
{
"code" : "105",
"display" : "Atresia of urethra"
},
{
"code" : "122",
"display" : "Birt-Hogg-Dubé syndrome"
},
{
"code" : "124",
"display" : "Diamond-Blackfan anemia"
},
{
"code" : "456328",
"display" : "X-linked myotubular myopathy-abnormal genitalia syndrome"
},
{
"code" : "457378",
"display" : "Complex lethal osteochondrodysplasia"
},
{
"code" : "458758",
"display" : "Composite hemangioendothelioma"
},
{
"code" : "458763",
"display" : "Retiform hemangioendothelioma"
},
{
"code" : "459033",
"display" : "Ataxia-oculomotor apraxia type 4"
},
{
"code" : "459070",
"display" : "X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome"
},
{
"code" : "464321",
"display" : "Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome"
},
{
"code" : "464336",
"display" : "BENTA disease"
},
{
"code" : "466670",
"display" : "Cyanide poisoning"
},
{
"code" : "466677",
"display" : "Scorpion envenomation"
},
{
"code" : "466806",
"display" : "Autosomal dominant thrombocytopenia with platelet secretion defect"
},
{
"code" : "466943",
"display" : "WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome"
},
{
"code" : "468631",
"display" : "Microcephalic cortical malformations-short stature due to RTTN deficiency"
},
{
"code" : "468717",
"display" : "Rhizomelic chondrodysplasia punctata type 5"
},
{
"code" : "476084",
"display" : "BVES-related limb-girdle muscular dystrophy"
},
{
"code" : "476406",
"display" : "Congenital generalized hypercontractile muscle stiffness syndrome"
},
{
"code" : "477650",
"display" : "Fibroblastic rheumatism"
},
{
"code" : "477684",
"display" : "Combined oxidative phosphorylation defect type 26"
},
{
"code" : "477774",
"display" : "Combined oxidative phosphorylation defect type 27"
},
{
"code" : "478029",
"display" : "Combined oxidative phosphorylation defect type 29"
},
{
"code" : "480536",
"display" : "MSH3-related attenuated familial adenomatous polyposis"
},
{
"code" : "485350",
"display" : "CLCN4-related X-linked intellectual disability syndrome"
},
{
"code" : "488632",
"display" : "TBCK-related intellectual disability syndrome"
},
{
"code" : "488635",
"display" : "Early-onset epilepsy-intellectual disability-brain anomalies syndrome"
},
{
"code" : "494448",
"display" : "Vulvar squamous cell carcinoma"
},
{
"code" : "496756",
"display" : "Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome"
},
{
"code" : "497188",
"display" : "Diffuse intrinsic pontine glioma"
},
{
"code" : "497757",
"display" : "MME-related autosomal dominant Charcot Marie Tooth disease type 2"
},
{
"code" : "498228",
"display" : "Phyllodes tumor of the prostate"
},
{
"code" : "498474",
"display" : "Hyaline fibromatosis syndrome"
},
{
"code" : "499009",
"display" : "Congenital syphilis"
},
{
"code" : "500095",
"display" : "Tall stature-intellectual disability-renal anomalies syndrome"
},
{
"code" : "500150",
"display" : "Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome"
},
{
"code" : "500464",
"display" : "Squamous cell carcinoma of the nasal cavity and paranasal sinuses"
},
{
"code" : "502366",
"display" : "Squamous cell carcinoma of the lip"
},
{
"code" : "504523",
"display" : "Severe combined immunodeficiency due to LAT deficiency"
},
{
"code" : "505208",
"display" : "3-methylglutaconic aciduria type 8"
},
{
"code" : "505227",
"display" : "Combined immunodeficiency due to GINS1 deficiency"
},
{
"code" : "506098",
"display" : "Neuroendocrine carcinoma of pancreas"
},
{
"code" : "506307",
"display" : "Stromme syndrome"
},
{
"code" : "508498",
"display" : "Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome"
},
{
"code" : "512017",
"display" : "Chronic lymphoproliferative disorder of natural killer cells"
},
{
"code" : "513456",
"display" : "Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome"
},
{
"code" : "519390",
"display" : "Isolated blepharochalasis"
},
{
"code" : "519410",
"display" : "Terrien marginal degeneration"
},
{
"code" : "521305",
"display" : "Proximal myopathy with focal depletion of mitochondria"
},
{
"code" : "521411",
"display" : "Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect"
},
{
"code" : "527468",
"display" : "Diaphragmatic hernia-short bowel-asplenia syndrome"
},
{
"code" : "528084",
"display" : "Non-specific syndromic intellectual disability"
},
{
"code" : "530995",
"display" : "Mixed phenotype acute leukemia"
},
{
"code" : "536532",
"display" : "Classical-like Ehlers-Danlos syndrome type 2"
},
{
"code" : "538096",
"display" : "Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy"
},
{
"code" : "542301",
"display" : "Combined immunodeficiency due to CARMIL2 deficiency"
},
{
"code" : "555402",
"display" : "NAD(P)HX dehydratase deficiency"
},
{
"code" : "562639",
"display" : "Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome"
},
{
"code" : "563671",
"display" : "Mucinous cystadenoma of childhood"
},
{
"code" : "563684",
"display" : "Furuncular myiasis due to Dermatobia hominis"
},
{
"code" : "563687",
"display" : "Furuncular myiasis due to Cordylobia anthropophaga"
},
{
"code" : "563708",
"display" : "Syndromic congenital sodium diarrhea"
},
{
"code" : "563991",
"display" : "Osteochondrosis of the tarsal bone"
},
{
"code" : "143",
"display" : "Parathyroid carcinoma"
},
{
"code" : "150",
"display" : "Nasopharyngeal carcinoma"
},
{
"code" : "159",
"display" : "Carnitine-acylcarnitine translocase deficiency"
},
{
"code" : "175",
"display" : "Cartilage-hair hypoplasia"
},
{
"code" : "178",
"display" : "Chordoma"
},
{
"code" : "180",
"display" : "Choroideremia"
},
{
"code" : "188",
"display" : "Systemic capillary leak syndrome"
},
{
"code" : "207",
"display" : "Crouzon syndrome"
},
{
"code" : "215",
"display" : "Congenital stationary night blindness"
},
{
"code" : "221",
"display" : "Dermatomyositis"
},
{
"code" : "226",
"display" : "Dihydropteridine reductase deficiency"
},
{
"code" : "229",
"display" : "Familial aortic dissection"
},
{
"code" : "238",
"display" : "Digestive duplication"
},
{
"code" : "240",
"display" : "Léri-Weill dyschondrosteosis"
},
{
"code" : "277",
"display" : "Severe combined immunodeficiency due to adenosine deaminase deficiency"
},
{
"code" : "293",
"display" : "Congenital herpes simplex virus infection"
},
{
"code" : "316",
"display" : "Progressive symmetric erythrokeratodermia"
},
{
"code" : "347",
"display" : "Frasier syndrome"
},
{
"code" : "351",
"display" : "Galactosialidosis"
},
{
"code" : "354",
"display" : "GM1 gangliosidosis"
},
{
"code" : "356",
"display" : "Gerstmann-Straussler-Scheinker syndrome"
},
{
"code" : "358",
"display" : "Gitelman syndrome"
},
{
"code" : "360",
"display" : "Glioblastoma"
},
{
"code" : "364",
"display" : "Glycogen storage disease due to glucose-6-phosphatase deficiency"
},
{
"code" : "380",
"display" : "Greig cephalopolysyndactyly syndrome"
},
{
"code" : "388",
"display" : "Hirschsprung disease"
},
{
"code" : "391",
"display" : "Classic Hodgkin lymphoma"
},
{
"code" : "400",
"display" : "Cystic echinococcosis"
},
{
"code" : "457",
"display" : "Harlequin ichthyosis"
},
{
"code" : "475",
"display" : "Joubert syndrome"
},
{
"code" : "478",
"display" : "Kallmann syndrome"
},
{
"code" : "480",
"display" : "Kearns-Sayre syndrome"
},
{
"code" : "523",
"display" : "Hereditary leiomyomatosis and renal cell cancer"
},
{
"code" : "525",
"display" : "Lichen planopilaris"
},
{
"code" : "531",
"display" : "Miller-Dieker syndrome"
},
{
"code" : "576",
"display" : "Mucolipidosis type II"
},
{
"code" : "578",
"display" : "Mucolipidosis type IV"
},
{
"code" : "596",
"display" : "X-linked centronuclear myopathy"
},
{
"code" : "597",
"display" : "Central core disease"
},
{
"code" : "603",
"display" : "Distal myopathy, Welander type"
},
{
"code" : "618",
"display" : "Familial melanoma"
},
{
"code" : "627",
"display" : "Nance-Horan syndrome"
},
{
"code" : "642",
"display" : "Hereditary sensory and autonomic neuropathy type 4"
},
{
"code" : "647",
"display" : "Nijmegen breakage syndrome"
},
{
"code" : "648",
"display" : "Noonan syndrome"
},
{
"code" : "653",
"display" : "Multiple endocrine neoplasia type 2"
},
{
"code" : "659",
"display" : "Mutilating palmoplantar keratoderma with periorificial keratotic plaques"
},
{
"code" : "677",
"display" : "Pancreatoblastoma"
},
{
"code" : "704",
"display" : "Pemphigus vulgaris"
},
{
"code" : "705",
"display" : "Pendred syndrome"
},
{
"code" : "707",
"display" : "Plague"
},
{
"code" : "710",
"display" : "Pfeiffer syndrome"
},
{
"code" : "728",
"display" : "Relapsing polychondritis"
},
{
"code" : "733",
"display" : "Familial adenomatous polyposis"
},
{
"code" : "749",
"display" : "Congenital prekallikrein deficiency"
},
{
"code" : "763",
"display" : "Pycnodysostosis"
},
{
"code" : "764",
"display" : "Pyomyositis"
},
{
"code" : "777",
"display" : "X-linked non-syndromic intellectual disability"
},
{
"code" : "567983",
"display" : "Parenteral nutrition-associated cholestasis"
},
{
"code" : "568062",
"display" : "PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis"
},
{
"code" : "570371",
"display" : "Bartter syndrome type 5"
},
{
"code" : "570431",
"display" : "Idiopathic multicentric Castleman disease"
},
{
"code" : "570762",
"display" : "Infective endocarditis"
},
{
"code" : "572428",
"display" : "Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia"
},
{
"code" : "572550",
"display" : "RFVT3-related riboflavin transporter deficiency"
},
{
"code" : "573253",
"display" : "Split cord malformation type II"
},
{
"code" : "574957",
"display" : "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency"
},
{
"code" : "580933",
"display" : "Lethal brain and heart developmental defects"
},
{
"code" : "581271",
"display" : "Cramp-fasciculation syndrome"
},
{
"code" : "583861",
"display" : "Isolated mesenteric vein thrombosis"
},
{
"code" : "585942",
"display" : "B-lymphoblastic leukemia/lymphoma with hypodiploidy"
},
{
"code" : "589442",
"display" : "Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome"
},
{
"code" : "589547",
"display" : "GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder"
},
{
"code" : "592570",
"display" : "TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome"
},
{
"code" : "595098",
"display" : "Timothy syndrome type 1"
},
{
"code" : "597733",
"display" : "Oculocutaneous albinism type 8"
},
{
"code" : "597738",
"display" : "Luscan-Lumish syndrome"
},
{
"code" : "598603",
"display" : "Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome"
},
{
"code" : "599082",
"display" : "CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome"
},
{
"code" : "599418",
"display" : "Hereditary angioedema with normal C1Inh not related to F12 or PLG variant"
},
{
"code" : "603684",
"display" : "KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome"
},
{
"code" : "604680",
"display" : "Symptomatic form of X-linked centronuclear myopathy in female carriers"
},
{
"code" : "610569",
"display" : "KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome"
},
{
"code" : "611237",
"display" : "Parkinsonism with polyneuropathy"
},
{
"code" : "613274",
"display" : "Pontocerebellar hypoplasia type 14"
},
{
"code" : "619233",
"display" : "Hereditary persistence of fetal hemoglobin-intellectual disability syndrome"
},
{
"code" : "620217",
"display" : "Bartter syndrome type 1"
},
{
"code" : "620220",
"display" : "Bartter syndrome type 2"
},
{
"code" : "623801",
"display" : "Acute flaccid myelitis"
},
{
"code" : "631088",
"display" : "Autosomal recessive spastic paraplegia type 87"
},
{
"code" : "631095",
"display" : "Spinocerebellar ataxia type 44"
},
{
"code" : "633014",
"display" : "SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome"
},
{
"code" : "633021",
"display" : "SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome"
},
{
"code" : "633099",
"display" : "PAICS deficiency"
},
{
"code" : "637064",
"display" : "Isolated optic nerve aplasia"
},
{
"code" : "641353",
"display" : "Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome"
},
{
"code" : "641375",
"display" : "B-lymphoblastic leukemia/lymphoma with t(17;19)"
},
{
"code" : "642071",
"display" : "Primary pulmonary vein stenosis"
},
{
"code" : "642099",
"display" : "Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type"
},
{
"code" : "642671",
"display" : "Familial hyperaldosteronism type IV"
},
{
"code" : "642747",
"display" : "PUM1-related cerebellar ataxia"
},
{
"code" : "642965",
"display" : "Autosomal recessive ataxia due to PEX2 deficiency"
},
{
"code" : "643549",
"display" : "Hao-Fountain syndrome"
},
{
"code" : "645378",
"display" : "Myelic limited dorsal malformation"
},
{
"code" : "645617",
"display" : "Amyopathic dermatomyositis"
},
{
"code" : "645793",
"display" : "Spontaneous intestinal perforation"
},
{
"code" : "645822",
"display" : "Primary bone and joint tuberculosis"
},
{
"code" : "645849",
"display" : "Primary cutaneous tuberculosis"
},
{
"code" : "645859",
"display" : "Primary tuberculosis of the digestive system"
},
{
"code" : "646139",
"display" : "Dysplastic cortical hyperostosis"
},
{
"code" : "647811",
"display" : "Cardiac-urogenital syndrome"
},
{
"code" : "648562",
"display" : "Ferroportin Disease"
},
{
"code" : "648675",
"display" : "Idiopathic scleritis"
},
{
"code" : "648684",
"display" : "Central retinal artery occlusion"
},
{
"code" : "779",
"display" : "Reynolds syndrome"
},
{
"code" : "812",
"display" : "Sialidosis type 1"
},
{
"code" : "816",
"display" : "Sjögren-Larsson syndrome"
},
{
"code" : "821",
"display" : "Sotos syndrome"
},
{
"code" : "847",
"display" : "Alpha-thalassemia-X-linked intellectual disability syndrome"
},
{
"code" : "849",
"display" : "Glanzmann thrombasthenia"
},
{
"code" : "869",
"display" : "Triple A syndrome"
},
{
"code" : "873",
"display" : "Desmoid tumor"
},
{
"code" : "875",
"display" : "Primary pediatric heart tumor"
},
{
"code" : "876",
"display" : "Yolk sac tumor"
},
{
"code" : "882",
"display" : "Tyrosinemia type 1"
},
{
"code" : "887",
"display" : "VACTERL/VATER association"
},
{
"code" : "888",
"display" : "Van der Woude syndrome"
},
{
"code" : "891",
"display" : "Familial exudative vitreoretinopathy"
},
{
"code" : "895",
"display" : "Waardenburg syndrome type 2"
},
{
"code" : "900",
"display" : "Granulomatosis with polyangiitis"
},
{
"code" : "910",
"display" : "Xeroderma pigmentosum"
},
{
"code" : "922",
"display" : "Familial nasal acilia"
},
{
"code" : "932",
"display" : "Achondrogenesis"
},
{
"code" : "955",
"display" : "Hajdu-Cheney syndrome"
},
{
"code" : "977",
"display" : "Adrenomyodystrophy"
},
{
"code" : "980",
"display" : "Absence of the pulmonary artery"
},
{
"code" : "991",
"display" : "PAGOD syndrome"
},
{
"code" : "998",
"display" : "Albinism-deafness syndrome"
},
{
"code" : "1010",
"display" : "Autosomal dominant palmoplantar keratoderma and congenital alopecia"
},
{
"code" : "1018",
"display" : "X-linked Alport syndrome-diffuse leiomyomatosis"
},
{
"code" : "1051",
"display" : "Ramos-Arroyo syndrome"
},
{
"code" : "1064",
"display" : "Aniridia-renal agenesis-psychomotor retardation syndrome"
},
{
"code" : "1065",
"display" : "Aniridia-cerebellar ataxia-intellectual disability syndrome"
},
{
"code" : "1070",
"display" : "Anisakiasis"
},
{
"code" : "1121",
"display" : "Radial deficiency-tibial hypoplasia syndrome"
},
{
"code" : "1134",
"display" : "Isolated arrhinia"
},
{
"code" : "1143",
"display" : "Neurogenic arthrogryposis multiplex congenita"
},
{
"code" : "1171",
"display" : "Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome"
},
{
"code" : "1174",
"display" : "Cerebellar ataxia-ectodermal dysplasia syndrome"
},
{
"code" : "1177",
"display" : "Early-onset cerebellar ataxia with retained tendon reflexes"
},
{
"code" : "1192",
"display" : "Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome"
},
{
"code" : "1217",
"display" : "Spinal atrophy-ophthalmoplegia-pyramidal syndrome"
},
{
"code" : "1236",
"display" : "Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome"
},
{
"code" : "1241",
"display" : "Bencze syndrome"
},
{
"code" : "1243",
"display" : "Best vitelliform macular dystrophy"
},
{
"code" : "1259",
"display" : "Blepharoptosis-myopia-ectopia lentis syndrome"
},
{
"code" : "1263",
"display" : "Boomerang dysplasia"
},
{
"code" : "1292",
"display" : "Brachymorphism-onychodysplasia-dysphalangism syndrome"
},
{
"code" : "1296",
"display" : "Lambert syndrome"
},
{
"code" : "1300",
"display" : "Autosomal dominant popliteal pterygium syndrome"
},
{
"code" : "1323",
"display" : "Camptodactyly-joint contractures-facial skeletal defects syndrome"
},
{
"code" : "1329",
"display" : "Complete atrioventricular septal defect"
},
{
"code" : "1344",
"display" : "Atrial standstill"
},
{
"code" : "1355",
"display" : "Congenital heart defect-round face-developmental delay syndrome"
},
{
"code" : "1366",
"display" : "Autosomal recessive palmoplantar keratoderma and congenital alopecia"
},
{
"code" : "1412",
"display" : "Tarsal-carpal coalition syndrome"
},
{
"code" : "1426",
"display" : "Greenberg dysplasia"
},
{
"code" : "1435",
"display" : "Xq21 microdeletion syndrome"
},
{
"code" : "1452",
"display" : "Cleidocranial dysplasia"
},
{
"code" : "1455",
"display" : "Autosomal dominant coarctation of aorta"
},
{
"code" : "1460",
"display" : "Isolated complex III deficiency"
},
{
"code" : "1461",
"display" : "Criss-cross heart"
},
{
"code" : "1514",
"display" : "Craniodigital-intellectual disability syndrome"
},
{
"code" : "1528",
"display" : "Craniotelencephalic dysplasia"
},
{
"code" : "1544",
"display" : "Benign focal seizures of adolescence"
},
{
"code" : "1552",
"display" : "Currarino syndrome"
},
{
"code" : "1653",
"display" : "Dentin dysplasia"
},
{
"code" : "1655",
"display" : "Müllerian derivatives-lymphangiectasia-polydactyly syndrome"
},
{
"code" : "1656",
"display" : "Dermatitis herpetiformis"
},
{
"code" : "1659",
"display" : "Dermatoleukodystrophy"
},
{
"code" : "1666",
"display" : "Dextrocardia"
},
{
"code" : "1670",
"display" : "Chronic diarrhea with villous atrophy"
},
{
"code" : "1677",
"display" : "Familial idiopathic dilatation of the right atrium"
},
{
"code" : "1695",
"display" : "Non-distal duplication 10q"
},
{
"code" : "1698",
"display" : "Mosaic trisomy 12"
},
{
"code" : "1708",
"display" : "Mosaic trisomy 16"
},
{
"code" : "1716",
"display" : "Distal duplication 18q"
},
{
"code" : "1717",
"display" : "Distal duplication 19q"
},
{
"code" : "1807",
"display" : "Focal facial dermal dysplasia type III"
},
{
"code" : "1816",
"display" : "Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome"
},
{
"code" : "1824",
"display" : "Lowry-Wood syndrome"
},
{
"code" : "1848",
"display" : "Renal agenesis, bilateral"
},
{
"code" : "1867",
"display" : "Hereditary bullous dystrophy, macular type"
},
{
"code" : "1873",
"display" : "Jalili syndrome"
},
{
"code" : "1880",
"display" : "Ebstein malformation of the tricuspid valve"
},
{
"code" : "1901",
"display" : "Dermatosparaxis Ehlers-Danlos syndrome"
},
{
"code" : "1917",
"display" : "Fetal methylmercury syndrome"
},
{
"code" : "1919",
"display" : "Phenobarbital embryopathy"
},
{
"code" : "1930",
"display" : "Herpes simplex virus encephalitis"
},
{
"code" : "1952",
"display" : "Epiphyseal stippling-osteoclastic hyperplasia syndrome"
},
{
"code" : "1962",
"display" : "Exostoses-anetodermia-brachydactyly type E syndrome"
},
{
"code" : "1972",
"display" : "Lethal faciocardiomelic dysplasia"
},
{
"code" : "1974",
"display" : "Autosomal recessive faciodigitogenital syndrome"
},
{
"code" : "2006",
"display" : "Median cleft lip/mandible"
},
{
"code" : "2031",
"display" : "Hepatic fibrosis-renal cysts-intellectual disability syndrome"
},
{
"code" : "2037",
"display" : "Congenital aortopulmonary window"
},
{
"code" : "2053",
"display" : "Freeman-Sheldon syndrome"
},
{
"code" : "2063",
"display" : "Splenogonadal fusion-limb defects-micrognathia syndrome"
},
{
"code" : "2084",
"display" : "Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome"
},
{
"code" : "2086",
"display" : "Optic pathway glioma"
},
{
"code" : "2108",
"display" : "Hallermann-Streiff syndrome"
},
{
"code" : "2114",
"display" : "Hip dysplasia, Beukes type"
},
{
"code" : "2135",
"display" : "Hennekam-Beemer syndrome"
},
{
"code" : "2138",
"display" : "46,XX ovotesticular difference of sex development"
},
{
"code" : "2148",
"display" : "Lissencephaly type 1 due to doublecortin gene mutation"
},
{
"code" : "2149",
"display" : "Nodular neuronal heterotopia"
},
{
"code" : "2152",
"display" : "Mowat-Wilson syndrome"
},
{
"code" : "2163",
"display" : "Holoprosencephaly-craniosynostosis syndrome"
},
{
"code" : "2183",
"display" : "Hydrocephalus-obesity-hypogonadism syndrome"
},
{
"code" : "2216",
"display" : "Maternal hyperthermia-induced birth defects"
},
{
"code" : "2238",
"display" : "Familial isolated hypoparathyroidism"
},
{
"code" : "2241",
"display" : "Megacystis-microcolon-intestinal hypoperistalsis syndrome"
},
{
"code" : "2260",
"display" : "Oligomeganephronia"
},
{
"code" : "2287",
"display" : "Fused mandibular incisors"
},
{
"code" : "2318",
"display" : "Joubert syndrome with oculorenal defect"
},
{
"code" : "2337",
"display" : "Non-epidermolytic palmoplantar keratoderma"
},
{
"code" : "2349",
"display" : "Muscular pseudohypertrophy-hypothyroidism syndrome"
},
{
"code" : "2369",
"display" : "Limb body wall complex"
},
{
"code" : "2370",
"display" : "Larsen-like osseous dysplasia-short stature syndrome"
},
{
"code" : "2373",
"display" : "Congenital laryngomalacia"
},
{
"code" : "2377",
"display" : "Laurence-Moon syndrome"
},
{
"code" : "2386",
"display" : "Leukoencephalopathy-palmoplantar keratoderma syndrome"
},
{
"code" : "2391",
"display" : "Congenitally short costocoracoid ligament"
},
{
"code" : "2396",
"display" : "Encephalocraniocutaneous lipomatosis"
},
{
"code" : "2444",
"display" : "Congenital pulmonary airway malformation"
},
{
"code" : "2473",
"display" : "McKusick-Kaufman syndrome"
},
{
"code" : "2482",
"display" : "Melhem-Fahl syndrome"
},
{
"code" : "2487",
"display" : "Lower limb malformation-hypospadias syndrome"
},
{
"code" : "2499",
"display" : "Metachondromatosis"
},
{
"code" : "2513",
"display" : "Microcephaly-albinism-digital anomalies syndrome"
},
{
"code" : "2547",
"display" : "Microphthalmia-microtia-fetal akinesia syndrome"
},
{
"code" : "2556",
"display" : "Microphthalmia with linear skin defects syndrome"
},
{
"code" : "2563",
"display" : "MOMO syndrome"
},
{
"code" : "2611",
"display" : "Linear verrucous nevus syndrome"
},
{
"code" : "2688",
"display" : "Adult idiopathic neutropenia"
},
{
"code" : "2704",
"display" : "Ochoa syndrome"
},
{
"code" : "2724",
"display" : "Odontomatosis-aortae esophagus stenosis syndrome"
},
{
"code" : "2741",
"display" : "Ophthalmomandibulomelic dysplasia"
},
{
"code" : "2767",
"display" : "Carpotarsal osteochondromatosis"
},
{
"code" : "2774",
"display" : "Multicentric carpo-tarsal osteolysis with or without nephropathy"
},
{
"code" : "2776",
"display" : "Autosomal recessive distal osteolysis syndrome"
},
{
"code" : "2828",
"display" : "Young-onset Parkinson disease"
},
{
"code" : "2854",
"display" : "Fuhrmann syndrome"
},
{
"code" : "2863",
"display" : "Short stature-wormian bones-dextrocardia syndrome"
},
{
"code" : "2872",
"display" : "Cardiocranial syndrome, Pfeiffer type"
},
{
"code" : "2879",
"display" : "Phocomelia, Schinzel type"
},
{
"code" : "2882",
"display" : "Sitosterolemia"
},
{
"code" : "2908",
"display" : "Kindler epidermolysis bullosa"
},
{
"code" : "2917",
"display" : "Polydactyly-myopia syndrome"
},
{
"code" : "2934",
"display" : "Polysyndactyly-cardiac malformation syndrome"
},
{
"code" : "2941",
"display" : "Porencephaly-cerebellar hypoplasia-internal malformations syndrome"
},
{
"code" : "2952",
"display" : "Adducted thumbs-arthrogryposis syndrome, Christian type"
},
{
"code" : "2970",
"display" : "Prune belly syndrome"
},
{
"code" : "3003",
"display" : "Pyknoachondrogenesis"
},
{
"code" : "3027",
"display" : "Caudal regression syndrome"
},
{
"code" : "3032",
"display" : "NPHP3-related Meckel-like syndrome"
},
{
"code" : "3033",
"display" : "Renal tubular dysgenesis"
},
{
"code" : "3041",
"display" : "Intellectual disability-balding-patella luxation-acromicria syndrome"
},
{
"code" : "3079",
"display" : "Intellectual disability, Buenos-Aires type"
},
{
"code" : "3099",
"display" : "Rheumatic fever"
},
{
"code" : "3102",
"display" : "Richieri Costa-Pereira syndrome"
},
{
"code" : "3157",
"display" : "Septo-optic dysplasia spectrum"
},
{
"code" : "3165",
"display" : "Eosinophilic fasciitis"
},
{
"code" : "3167",
"display" : "Siegler-Brewer-Carey syndrome"
},
{
"code" : "3190",
"display" : "Subpulmonary stenosis"
},
{
"code" : "3194",
"display" : "Corneodermatoosseous syndrome"
},
{
"code" : "3199",
"display" : "Stimmler syndrome"
},
{
"code" : "3203",
"display" : "Overhydrated hereditary stomatocytosis"
},
{
"code" : "3204",
"display" : "Stormorken-Sjaastad-Langslet syndrome"
},
{
"code" : "3208",
"display" : "Isolated succinate-CoQ reductase deficiency"
},
{
"code" : "3218",
"display" : "Deafness-epiphyseal dysplasia-short stature syndrome"
},
{
"code" : "3233",
"display" : "Cochleosaccular degeneration-cataract syndrome"
},
{
"code" : "3237",
"display" : "Multiple synostoses syndrome"
},
{
"code" : "3243",
"display" : "Sweet syndrome"
},
{
"code" : "3273",
"display" : "Synovial sarcoma"
},
{
"code" : "3294",
"display" : "Extensor tendons of finger anomalies"
},
{
"code" : "3309",
"display" : "Tetrasomy 5p"
},
{
"code" : "3310",
"display" : "Tetrasomy 9p"
},
{
"code" : "3326",
"display" : "Thymic-renal-anal-lung dysplasia"
},
{
"code" : "3327",
"display" : "Thyrocerebrorenal syndrome"
},
{
"code" : "3337",
"display" : "Primary Fanconi renotubular syndrome"
},
{
"code" : "3384",
"display" : "Truncus arteriosus"
},
{
"code" : "3437",
"display" : "Vogt-Koyanagi-Harada disease"
},
{
"code" : "3467",
"display" : "Hereditary xanthinuria"
},
{
"code" : "3473",
"display" : "Zimmermann-Laband syndrome"
},
{
"code" : "3474",
"display" : "CHIME syndrome"
},
{
"code" : "25980",
"display" : "X-linked myopathy with excessive autophagy"
},
{
"code" : "26349",
"display" : "Protein S acquired deficiency"
},
{
"code" : "26793",
"display" : "Very long chain acyl-CoA dehydrogenase deficiency"
},
{
"code" : "31150",
"display" : "Tangier disease"
},
{
"code" : "33111",
"display" : "Granulomatous slack skin"
},
{
"code" : "33226",
"display" : "Waldenström macroglobulinemia"
},
{
"code" : "33355",
"display" : "Reticular dysgenesis"
},
{
"code" : "35107",
"display" : "Desmosterolosis"
},
{
"code" : "35121",
"display" : "Lysosomal acid phosphatase deficiency"
},
{
"code" : "35664",
"display" : "ALDH18A1-related De Barsy syndrome"
},
{
"code" : "35689",
"display" : "Primary lateral sclerosis"
},
{
"code" : "35909",
"display" : "Combined deficiency of factor V and factor VIII"
},
{
"code" : "36258",
"display" : "Buerger disease"
},
{
"code" : "36899",
"display" : "Myoclonus-dystonia syndrome"
},
{
"code" : "43117",
"display" : "Acute tricyclic antidepressant poisoning"
},
{
"code" : "48918",
"display" : "Focal myositis"
},
{
"code" : "49041",
"display" : "IgG4-related retroperitoneal fibrosis"
},
{
"code" : "49804",
"display" : "Lichen amyloidosis"
},
{
"code" : "51083",
"display" : "Familial short QT syndrome"
},
{
"code" : "51084",
"display" : "Torsade-de-pointes syndrome with short coupling interval"
},
{
"code" : "51890",
"display" : "Anterior cutaneous nerve entrapment syndrome"
},
{
"code" : "52022",
"display" : "Potocki-Shaffer syndrome"
},
{
"code" : "53296",
"display" : "Familial cutaneous collagenoma"
},
{
"code" : "60014",
"display" : "Argyria"
},
{
"code" : "63442",
"display" : "Angel-shaped phalango-epiphyseal dysplasia"
},
{
"code" : "65288",
"display" : "Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome"
},
{
"code" : "66633",
"display" : "Sensorineural hearing loss-early graying-essential tremor syndrome"
},
{
"code" : "67041",
"display" : "Hyaluronidase deficiency"
},
{
"code" : "67047",
"display" : "3-methylglutaconic aciduria type 3"
},
{
"code" : "69078",
"display" : "Liposarcoma"
},
{
"code" : "69126",
"display" : "PAPA syndrome"
},
{
"code" : "70596",
"display" : "Congenital Epstein-Barr virus infection"
},
{
"code" : "71213",
"display" : "Retinal capillary malformation"
},
{
"code" : "71267",
"display" : "Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome"
},
{
"code" : "71271",
"display" : "Split hand-split foot-deafness syndrome"
},
{
"code" : "71273",
"display" : "Renal nutcracker syndrome"
},
{
"code" : "71277",
"display" : "Classic glucose transporter type 1 deficiency syndrome"
},
{
"code" : "71278",
"display" : "Congenital brain dysgenesis due to glutamine synthetase deficiency"
},
{
"code" : "71290",
"display" : "Familial platelet disorder with associated myeloid malignancy"
},
{
"code" : "71517",
"display" : "Rapid-onset dystonia-parkinsonism"
},
{
"code" : "71519",
"display" : "Psychogenic movement disorders"
},
{
"code" : "71526",
"display" : "Obesity due to pro-opiomelanocortin deficiency"
},
{
"code" : "71529",
"display" : "Obesity due to melanocortin 4 receptor deficiency"
},
{
"code" : "75327",
"display" : "North Carolina macular dystrophy"
},
{
"code" : "75376",
"display" : "Familial drusen"
},
{
"code" : "75857",
"display" : "6q terminal deletion syndrome"
},
{
"code" : "77301",
"display" : "Monosomy 9q22.3"
},
{
"code" : "79091",
"display" : "Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome"
},
{
"code" : "79096",
"display" : "Pyridoxal phosphate-responsive seizures"
},
{
"code" : "79128",
"display" : "Lymphoid interstitial pneumonia"
},
{
"code" : "79140",
"display" : "Cutaneous neuroendocrine carcinoma"
},
{
"code" : "79154",
"display" : "2-aminoadipic 2-oxoadipic aciduria"
},
{
"code" : "79156",
"display" : "Seizures-intellectual disability due to hydroxylysinuria syndrome"
},
{
"code" : "79257",
"display" : "GM1 gangliosidosis type 3"
},
{
"code" : "79262",
"display" : "Adult neuronal ceroid lipofuscinosis"
},
{
"code" : "79263",
"display" : "Infantile neuronal ceroid lipofuscinosis"
},
{
"code" : "79282",
"display" : "Methylmalonic acidemia with homocystinuria, type cblC"
},
{
"code" : "79283",
"display" : "Methylmalonic acidemia with homocystinuria, type cblD"
},
{
"code" : "79299",
"display" : "Congenital glucokinase-related hyperinsulinism"
},
{
"code" : "79301",
"display" : "Congenital bile acid synthesis defect type 1"
},
{
"code" : "79321",
"display" : "ALG3-CDG"
},
{
"code" : "79323",
"display" : "MPDU1-CDG"
},
{
"code" : "79397",
"display" : "Epidermolysis bullosa simplex with mottled pigmentation"
},
{
"code" : "79409",
"display" : "Recessive dystrophic epidermolysis bullosa inversa"
},
{
"code" : "79443",
"display" : "Pseudohypoparathyroidism type 1A"
},
{
"code" : "79447",
"display" : "X-linked lethal multiple pterygium syndrome"
},
{
"code" : "79455",
"display" : "Cutaneous mastocytoma"
},
{
"code" : "79456",
"display" : "Diffuse cutaneous mastocytosis"
},
{
"code" : "79466",
"display" : "Inflammatory linear verrucous epidermal nevus"
},
{
"code" : "79476",
"display" : "Griscelli syndrome type 1"
},
{
"code" : "79477",
"display" : "Griscelli syndrome type 2"
},
{
"code" : "79499",
"display" : "Autosomal dominant deafness-onychodystrophy syndrome"
},
{
"code" : "83453",
"display" : "Vulvovaginal gingival syndrome"
},
{
"code" : "83454",
"display" : "Glomuvenous malformation"
},
{
"code" : "83468",
"display" : "Solitary bone cyst"
},
{
"code" : "83471",
"display" : "T-cell immunodeficiency with thymic aplasia"
},
{
"code" : "84090",
"display" : "Fibronectin glomerulopathy"
},
{
"code" : "85162",
"display" : "Facial onset sensory and motor neuronopathy"
},
{
"code" : "85168",
"display" : "Craniofacial conodysplasia"
},
{
"code" : "85174",
"display" : "Pseudodiastrophic dysplasia"
},
{
"code" : "85184",
"display" : "Craniometadiaphyseal dysplasia, wormian bone type"
},
{
"code" : "85193",
"display" : "Idiopathic juvenile osteoporosis"
},
{
"code" : "85201",
"display" : "Genitopatellar syndrome"
},
{
"code" : "85212",
"display" : "Fetal Gaucher disease"
},
{
"code" : "85277",
"display" : "X-linked intellectual disability, Cantagrel type"
},
{
"code" : "85317",
"display" : "X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome"
},
{
"code" : "85334",
"display" : "X-linked neurodegenerative syndrome, Bertini type"
},
{
"code" : "85336",
"display" : "X-linked neurodegenerative syndrome, Hamel type"
},
{
"code" : "85451",
"display" : "ATTRV122I amyloidosis"
},
{
"code" : "85453",
"display" : "X-linked reticulate pigmentary disorder"
},
{
"code" : "86818",
"display" : "Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome"
},
{
"code" : "86830",
"display" : "Chronic myeloproliferative disease, unclassifiable"
},
{
"code" : "86845",
"display" : "Acute myeloid leukaemia with myelodysplasia-related features"
},
{
"code" : "86879",
"display" : "Extranodal nasal NK/T cell lymphoma"
},
{
"code" : "86897",
"display" : "Langerhans cell sarcoma"
},
{
"code" : "86906",
"display" : "Hypothalamic hamartomas with gelastic seizures"
},
{
"code" : "86915",
"display" : "Lymphedema-atrial septal defects-facial changes syndrome"
},
{
"code" : "86919",
"display" : "Keratosis palmaris et plantaris-clinodactyly syndrome"
},
{
"code" : "87876",
"display" : "Sialidosis type 2"
},
{
"code" : "88919",
"display" : "Autosomal recessive Alport syndrome"
},
{
"code" : "88938",
"display" : "Pseudohypoaldosteronism type 2A"
},
{
"code" : "88940",
"display" : "Pseudohypoaldosteronism type 2C"
},
{
"code" : "90023",
"display" : "Primary immunodeficiency syndrome due to LAMTOR2 deficiency"
},
{
"code" : "90031",
"display" : "Non-spherocytic hemolytic anemia due to hexokinase deficiency"
},
{
"code" : "90037",
"display" : "Drug-induced autoimmune hemolytic anemia"
},
{
"code" : "90042",
"display" : "Primary familial polycythemia"
},
{
"code" : "90060",
"display" : "Diffuse alveolar hemorrhage"
},
{
"code" : "90064",
"display" : "Acute peripheral arterial occlusion"
},
{
"code" : "90065",
"display" : "Acquired aneurysmal subarachnoid hemorrhage"
},
{
"code" : "90068",
"display" : "Cocaine intoxication"
},
{
"code" : "90073",
"display" : "Hepatitis B reinfection following liver transplantation"
},
{
"code" : "90078",
"display" : "Invasive infections due to vancomycin-resistant enterococci"
},
{
"code" : "90154",
"display" : "Mandibuloacral dysplasia with type B lipodystrophy"
},
{
"code" : "90156",
"display" : "Centrifugal lipodystrophy"
},
{
"code" : "90158",
"display" : "Idiopathic localized lipodystrophy"
},
{
"code" : "90281",
"display" : "Discoid lupus erythematosus"
},
{
"code" : "90289",
"display" : "Localized scleroderma"
},
{
"code" : "90342",
"display" : "Xeroderma pigmentosum variant"
},
{
"code" : "90625",
"display" : "Rare X-linked non-syndromic sensorineural deafness type DFN"
},
{
"code" : "90635",
"display" : "Rare autosomal dominant non-syndromic sensorineural deafness type DFNA"
},
{
"code" : "90796",
"display" : "46,XY difference of sex development due to isolated 17,20-lyase deficiency"
},
{
"code" : "91359",
"display" : "Chronic pneumonitis of infancy"
},
{
"code" : "91483",
"display" : "Rieger anomaly"
},
{
"code" : "91491",
"display" : "Congenital ectropion uveae"
},
{
"code" : "91492",
"display" : "Early-onset non-syndromic cataract"
},
{
"code" : "93172",
"display" : "Renal dysplasia, unilateral"
},
{
"code" : "93282",
"display" : "Spondyloepimetaphyseal dysplasia, PAPSS2 type"
},
{
"code" : "93298",
"display" : "Achondrogenesis type 1B"
},
{
"code" : "93299",
"display" : "Achondrogenesis type 1A"
},
{
"code" : "93302",
"display" : "Brachyolmia, Maroteaux type"
},
{
"code" : "93314",
"display" : "Spondylometaphyseal dysplasia, Kozlowski type"
},
{
"code" : "93336",
"display" : "Polydactyly of a triphalangeal thumb"
},
{
"code" : "93351",
"display" : "Spondyloepimetaphyseal dysplasia, Irapa type"
},
{
"code" : "93384",
"display" : "Brachydactyly type C"
},
{
"code" : "93403",
"display" : "Syndactyly type 2"
},
{
"code" : "93557",
"display" : "Light and heavy chain deposition disease"
},
{
"code" : "93601",
"display" : "Xanthinuria type I"
},
{
"code" : "93605",
"display" : "Bartter syndrome type 3"
},
{
"code" : "93952",
"display" : "X-linked intellectual disability, Hedera type"
},
{
"code" : "94064",
"display" : "Deafness-infertility syndrome"
},
{
"code" : "94086",
"display" : "Blue diaper syndrome"
},
{
"code" : "94088",
"display" : "Hereditary renal hypouricemia"
},
{
"code" : "94093",
"display" : "Neuroleptic malignant syndrome"
},
{
"code" : "95513",
"display" : "Panhypophysitis"
},
{
"code" : "95707",
"display" : "Idiopathic isolated micropenis"
},
{
"code" : "96060",
"display" : "Mosaic trisomy 5"
},
{
"code" : "96063",
"display" : "Mosaic trisomy 10"
},
{
"code" : "96072",
"display" : "4p16.3 microduplication syndrome"
},
{
"code" : "96078",
"display" : "16p13.3 microduplication syndrome"
},
{
"code" : "96094",
"display" : "Distal duplication 2q"
},
{
"code" : "96105",
"display" : "Distal duplication 13q"
},
{
"code" : "96148",
"display" : "Distal deletion 10q"
},
{
"code" : "96149",
"display" : "Distal deletion 12q"
},
{
"code" : "96269",
"display" : "Isolated partial vaginal agenesis"
},
{
"code" : "97214",
"display" : "Eisenmenger syndrome"
},
{
"code" : "97252",
"display" : "Mega-cisterna magna"
},
{
"code" : "97289",
"display" : "Thymic neuroendocrine tumor"
},
{
"code" : "97335",
"display" : "Osgood-Schlatter disease"
},
{
"code" : "97341",
"display" : "Persistent placoid maculopathy"
},
{
"code" : "97678",
"display" : "Maternal uniparental disomy of chromosome 13"
},
{
"code" : "98686",
"display" : "Congenital trochlear nerve palsy"
},
{
"code" : "98764",
"display" : "Spinocerebellar ataxia type 27"
},
{
"code" : "98797",
"display" : "Isochromosomy Yp"
},
{
"code" : "98819",
"display" : "Familial temporal lobe epilepsy"
},
{
"code" : "98853",
"display" : "Autosomal dominant Emery-Dreifuss muscular dystrophy"
},
{
"code" : "98869",
"display" : "Congenital dyserythropoietic anemia type I"
},
{
"code" : "98873",
"display" : "Congenital dyserythropoietic anemia type II"
},
{
"code" : "98881",
"display" : "Familial dysfibrinogenemia"
},
{
"code" : "98905",
"display" : "Congenital multicore myopathy with external ophthalmoplegia"
},
{
"code" : "98909",
"display" : "Desminopathy"
},
{
"code" : "98915",
"display" : "Synaptic congenital myasthenic syndromes"
},
{
"code" : "98989",
"display" : "Cerulean cataract"
},
{
"code" : "98991",
"display" : "Early-onset nuclear cataract"
},
{
"code" : "99002",
"display" : "Reticular dystrophy of the retinal pigment epithelium"
},
{
"code" : "99076",
"display" : "Persistent fifth aortic arch"
},
{
"code" : "99090",
"display" : "Malposition of a coronary ostium"
},
{
"code" : "99105",
"display" : "Atrial septal defect, sinus venosus type"
},
{
"code" : "99118",
"display" : "Coronary sinus atresia"
},
{
"code" : "99138",
"display" : "Hemolytic anemia due to erythrocyte adenosine deaminase overproduction"
},
{
"code" : "99177",
"display" : "Isolated distichiasis"
},
{
"code" : "99642",
"display" : "Spondyloepimetaphyseal dysplasia, Handigodu type"
},
{
"code" : "99647",
"display" : "Cheirospondyloenchondromatosis"
},
{
"code" : "99725",
"display" : "Pituitary gigantism"
},
{
"code" : "99732",
"display" : "Sulfite oxidase deficiency due to molybdenum cofactor deficiency"
},
{
"code" : "99745",
"display" : "Typhoid"
},
{
"code" : "99757",
"display" : "Embryonal rhabdomyosarcoma"
},
{
"code" : "99776",
"display" : "Mosaic trisomy 9"
},
{
"code" : "99827",
"display" : "Crimean-Congo hemorrhagic fever"
},
{
"code" : "99828",
"display" : "Dengue fever"
},
{
"code" : "99842",
"display" : "Leukocyte adhesion deficiency type I"
},
{
"code" : "99843",
"display" : "Leukocyte adhesion deficiency type II"
},
{
"code" : "99854",
"display" : "Cree leukoencephalopathy"
},
{
"code" : "99860",
"display" : "Precursor B-cell acute lymphoblastic leukemia"
},
{
"code" : "99915",
"display" : "Maligant granulosa cell tumor of the ovary"
},
{
"code" : "99928",
"display" : "Placental site trophoblastic tumor"
},
{
"code" : "99935",
"display" : "Pleuropulmonary blastoma type 3"
},
{
"code" : "99937",
"display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2C"
},
{
"code" : "99945",
"display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2L"
},
{
"code" : "99956",
"display" : "Charcot-Marie-Tooth disease type 4B2"
},
{
"code" : "99969",
"display" : "Pleomorphic liposarcoma"
},
{
"code" : "99989",
"display" : "Intermediate DEND syndrome"
},
{
"code" : "100002",
"display" : "Extraneural perineurioma"
},
{
"code" : "100006",
"display" : "ABeta amyloidosis, Dutch type"
},
{
"code" : "100011",
"display" : "Lissencephaly with cerebellar hypoplasia type A"
},
{
"code" : "100016",
"display" : "Lissencephaly with cerebellar hypoplasia type F"
},
{
"code" : "100045",
"display" : "Autosomal dominant intermediate Charcot-Marie-Tooth disease type C"
},
{
"code" : "100048",
"display" : "Tubular duplication of the esophagus"
},
{
"code" : "100056",
"display" : "Acquired angioedema type 1"
},
{
"code" : "100075",
"display" : "Neuroendocrine tumor of stomach"
},
{
"code" : "100084",
"display" : "Middle ear neuroendocrine tumor"
},
{
"code" : "100984",
"display" : "Autosomal dominant spastic paraplegia type 3"
},
{
"code" : "100985",
"display" : "Autosomal dominant spastic paraplegia type 4"
},
{
"code" : "100993",
"display" : "Autosomal dominant spastic paraplegia type 12"
},
{
"code" : "101004",
"display" : "Autosomal recessive spastic paraplegia type 24"
},
{
"code" : "101005",
"display" : "Autosomal recessive spastic paraplegia type 25"
},
{
"code" : "101050",
"display" : "Familial hypocalciuric hypercalcemia type 3"
},
{
"code" : "101068",
"display" : "Congenital stromal corneal dystrophy"
},
{
"code" : "101077",
"display" : "X-linked Charcot-Marie-Tooth disease type 3"
},
{
"code" : "101102",
"display" : "Charcot-Marie-Tooth disease type 2H"
},
{
"code" : "101109",
"display" : "Spinocerebellar ataxia type 28"
},
{
"code" : "101111",
"display" : "Spinocerebellar ataxia type 25"
},
{
"code" : "102379",
"display" : "Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent"
},
{
"code" : "102724",
"display" : "Acute myeloid leukemia with t(8;21)(q22;q22) translocation"
},
{
"code" : "104077",
"display" : "Myopathic intestinal pseudoobstruction"
},
{
"code" : "137583",
"display" : "Vulvar intraepithelial neoplasia"
},
{
"code" : "137599",
"display" : "Herpes simplex virus stromal keratitis"
},
{
"code" : "137608",
"display" : "Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome"
},
{
"code" : "137625",
"display" : "Glycogen storage disease due to muscle and heart glycogen synthase deficiency"
},
{
"code" : "137672",
"display" : "Pellucid marginal degeneration"
},
{
"code" : "137776",
"display" : "Lethal congenital contracture syndrome type 2"
},
{
"code" : "139423",
"display" : "Idiopathic acute transverse myelitis"
},
{
"code" : "139455",
"display" : "Autosomal recessive bestrophinopathy"
},
{
"code" : "139466",
"display" : "SERKAL syndrome"
},
{
"code" : "139480",
"display" : "Autosomal recessive spastic paraplegia type 39"
},
{
"code" : "139536",
"display" : "Distal hereditary motor neuropathy type 5"
},
{
"code" : "139583",
"display" : "X-linked hereditary sensory and autonomic neuropathy with deafness"
},
{
"code" : "140905",
"display" : "Hyperlipidemia due to hepatic triacylglycerol lipase deficiency"
},
{
"code" : "140952",
"display" : "Syndactyly-telecanthus-anogenital and renal malformations syndrome"
},
{
"code" : "141000",
"display" : "Orofaciodigital syndrome type 11"
},
{
"code" : "141051",
"display" : "Facial dermoid cyst"
},
{
"code" : "141099",
"display" : "Proboscis lateralis"
},
{
"code" : "141132",
"display" : "Oculo-auriculo-vertebral spectrum"
},
{
"code" : "141209",
"display" : "Diffuse lymphatic malformation"
},
{
"code" : "141258",
"display" : "Tessier number 4 facial cleft"
},
{
"code" : "141291",
"display" : "Cleft lip and alveolus"
},
{
"code" : "141327",
"display" : "Orofaciodigital syndrome type 12"
},
{
"code" : "157769",
"display" : "Situs ambiguus"
},
{
"code" : "157954",
"display" : "ANE syndrome"
},
{
"code" : "157973",
"display" : "Congenital muscular dystrophy due to LMNA mutation"
},
{
"code" : "158003",
"display" : "Xanthoma disseminatum"
},
{
"code" : "158008",
"display" : "Papular xanthoma"
},
{
"code" : "158673",
"display" : "Localized dystrophic epidermolysis bullosa, acral form"
},
{
"code" : "158687",
"display" : "Lethal acantholytic erosive disorder"
},
{
"code" : "163681",
"display" : "CNTNAP2-related developmental and epileptic encephalopathy"
},
{
"code" : "163703",
"display" : "Febrile infection-related epilepsy syndrome"
},
{
"code" : "163721",
"display" : "Rolandic epilepsy-speech dyspraxia syndrome"
},
{
"code" : "163971",
"display" : "X-linked intellectual disability, Cilliers type"
},
{
"code" : "165955",
"display" : "Wound myiasis"
},
{
"code" : "166093",
"display" : "Von Willebrand disease type 2N"
},
{
"code" : "166272",
"display" : "Odontochondrodysplasia"
},
{
"code" : "166302",
"display" : "Benign partial epilepsy with secondarily generalized seizures in infancy"
},
{
"code" : "166305",
"display" : "Benign infantile seizures associated with mild gastroenteritis"
},
{
"code" : "166430",
"display" : "Micturation-induced seizures"
},
{
"code" : "168563",
"display" : "46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome"
},
{
"code" : "168588",
"display" : "Hyperandrogenism due to cortisone reductase deficiency"
},
{
"code" : "168629",
"display" : "Autosomal thrombocytopenia with normal platelets"
},
{
"code" : "168632",
"display" : "Generalized basaloid follicular hamartoma syndrome"
},
{
"code" : "168960",
"display" : "Refractory anemia with excess blasts in transformation"
},
{
"code" : "168966",
"display" : "Composite lymphoma"
},
{
"code" : "169142",
"display" : "Recurrent infection due to specific granule deficiency"
},
{
"code" : "171439",
"display" : "Childhood-onset nemaline myopathy"
},
{
"code" : "171844",
"display" : "Blindness-scoliosis-arachnodactyly syndrome"
},
{
"code" : "171871",
"display" : "Renal pseudohypoaldosteronism type 1"
},
{
"code" : "171886",
"display" : "Cylindrical spirals myopathy"
},
{
"code" : "177904",
"display" : "Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2"
},
{
"code" : "178307",
"display" : "Reticulate acropigmentation of Kitamura"
},
{
"code" : "178382",
"display" : "Congenital vertical talus"
},
{
"code" : "178400",
"display" : "Distal myopathy with anterior tibial onset"
},
{
"code" : "178493",
"display" : "Myopic macular degeneration"
},
{
"code" : "180106",
"display" : "Bicervical bicornuate uterus and blind hemivagina"
},
{
"code" : "180237",
"display" : "Benign tumor of fallopian tubes"
},
{
"code" : "183666",
"display" : "Hyper-IgM syndrome without susceptibility to opportunistic infections"
},
{
"code" : "183713",
"display" : "Bacterial susceptibility due to TLR signaling pathway deficiency"
},
{
"code" : "189427",
"display" : "Cushing syndrome due to bilateral macronodular adrenocortical disease"
},
{
"code" : "199282",
"display" : "Harlequin syndrome"
},
{
"code" : "199318",
"display" : "15q13.3 microdeletion syndrome"
},
{
"code" : "206583",
"display" : "Adult polyglucosan body disease"
},
{
"code" : "206586",
"display" : "Neurolymphomatosis"
},
{
"code" : "208444",
"display" : "Bilateral frontal polymicrogyria"
},
{
"code" : "209004",
"display" : "Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy"
},
{
"code" : "209916",
"display" : "Extraskeletal myxoid chondrosarcoma"
},
{
"code" : "209973",
"display" : "Benign nocturnal alternating hemiplegia of childhood"
},
{
"code" : "210163",
"display" : "Congenital lethal myopathy, Compton-North type"
},
{
"code" : "213625",
"display" : "Leiomyosarcoma of the corpus uteri"
},
{
"code" : "213777",
"display" : "High-grade neuroendocrine carcinoma of the cervix uteri"
},
{
"code" : "216812",
"display" : "Osteogenesis imperfecta type 3"
},
{
"code" : "216975",
"display" : "Niemann-Pick disease type C, severe early infantile neurologic onset"
},
{
"code" : "217017",
"display" : "Zechi-Ceide syndrome"
},
{
"code" : "217335",
"display" : "RIN2 syndrome"
},
{
"code" : "217390",
"display" : "Combined immunodeficiency due to DOCK8 deficiency"
},
{
"code" : "217407",
"display" : "Hereditary hypotrichosis with recurrent skin vesicles"
},
{
"code" : "220436",
"display" : "Quebec platelet disorder"
},
{
"code" : "221043",
"display" : "Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome"
},
{
"code" : "228157",
"display" : "Marburg acute multiple sclerosis"
},
{
"code" : "228179",
"display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2M"
},
{
"code" : "228227",
"display" : "Late-onset focal dermal elastosis"
},
{
"code" : "228247",
"display" : "Acquired pseudoxanthoma elasticum"
},
{
"code" : "228302",
"display" : "Carnitine palmitoyl transferase II deficiency, myopathic form"
},
{
"code" : "228343",
"display" : "CLN4B disease"
},
{
"code" : "228357",
"display" : "CLN9 disease"
},
{
"code" : "228384",
"display" : "5q14.3 microdeletion syndrome"
},
{
"code" : "228396",
"display" : "Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome"
},
{
"code" : "228415",
"display" : "5q35 microduplication syndrome"
},
{
"code" : "230851",
"display" : "Cardiac-valvular Ehlers-Danlos syndrome"
},
{
"code" : "231137",
"display" : "Silver-Russell syndrome due to 7p11.2p13 microduplication"
},
{
"code" : "231160",
"display" : "Familial cerebral saccular aneurysm"
},
{
"code" : "231183",
"display" : "Usher syndrome type 3"
},
{
"code" : "231214",
"display" : "Beta-thalassemia major"
},
{
"code" : "231222",
"display" : "Beta-thalassemia intermedia"
},
{
"code" : "231445",
"display" : "Paraparetic variant of Guillain-Barré syndrome"
},
{
"code" : "231457",
"display" : "Acute pandysautonomia"
},
{
"code" : "231466",
"display" : "Acute sensory ataxic neuropathy"
},
{
"code" : "231556",
"display" : "Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome"
},
{
"code" : "231573",
"display" : "Congenital erosive and vesicular dermatosis"
},
{
"code" : "231662",
"display" : "Isolated growth hormone deficiency type IA"
},
{
"code" : "231679",
"display" : "Isolated growth hormone deficiency type II"
},
{
"code" : "231692",
"display" : "Isolated growth hormone deficiency type III"
},
{
"code" : "238455",
"display" : "Infantile dystonia-parkinsonism"
},
{
"code" : "238505",
"display" : "Combined immunodeficiency due to CD27 deficiency"
},
{
"code" : "238621",
"display" : "Ileal pouch anal anastomosis related faecal incontinence"
},
{
"code" : "238744",
"display" : "Mammary-digital-nail syndrome"
},
{
"code" : "238750",
"display" : "4q21 microdeletion syndrome"
},
{
"code" : "240103",
"display" : "Progressive supranuclear palsy-corticobasal syndrome"
},
{
"code" : "244242",
"display" : "HELLP syndrome"
},
{
"code" : "244310",
"display" : "RFT1-CDG"
},
{
"code" : "247165",
"display" : "Infantile mercury poisoning"
},
{
"code" : "247234",
"display" : "Sporadic adult-onset ataxia of unknown etiology"
},
{
"code" : "247257",
"display" : "Inhalational anthrax"
},
{
"code" : "247353",
"display" : "Generalized pustular psoriasis"
},
{
"code" : "247546",
"display" : "Acute neonatal citrullinemia type I"
},
{
"code" : "247604",
"display" : "Juvenile primary lateral sclerosis"
},
{
"code" : "247623",
"display" : "Perinatal lethal hypophosphatasia"
},
{
"code" : "247798",
"display" : "MUTYH-related attenuated familial adenomatous polyposis"
},
{
"code" : "247806",
"display" : "APC-related attenuated familial adenomatous polyposis"
},
{
"code" : "247834",
"display" : "Occult macular dystrophy"
},
{
"code" : "250977",
"display" : "AICA-ribosiduria"
},
{
"code" : "250984",
"display" : "Autosomal recessive Stickler syndrome"
},
{
"code" : "251038",
"display" : "3q29 microduplication syndrome"
},
{
"code" : "251056",
"display" : "6q25 microdeletion syndrome"
},
{
"code" : "251071",
"display" : "8p23.1 microdeletion syndrome"
},
{
"code" : "251290",
"display" : "Parietal foramina with clavicular hypoplasia"
},
{
"code" : "251365",
"display" : "Sickle cell-hemoglobin C disease syndrome"
},
{
"code" : "251383",
"display" : "CK syndrome"
},
{
"code" : "251523",
"display" : "Hyperzincemia and hypercalprotectinemia"
},
{
"code" : "251595",
"display" : "Diffuse astrocytoma"
},
{
"code" : "251679",
"display" : "Astroblastoma"
},
{
"code" : "251899",
"display" : "Choroid plexus carcinoma"
},
{
"code" : "251919",
"display" : "Pineal parenchymal tumor of intermediate differenciation"
},
{
"code" : "252175",
"display" : "Vestibular schwannoma"
},
{
"code" : "254504",
"display" : "Inhalational botulism"
},
{
"code" : "254509",
"display" : "Iatrogenic botulism"
},
{
"code" : "254693",
"display" : "Partial hydatidiform mole"
},
{
"code" : "254892",
"display" : "Autosomal dominant progressive external ophthalmoplegia"
},
{
"code" : "254920",
"display" : "Combined oxidative phosphorylation defect type 2"
},
{
"code" : "254925",
"display" : "Combined oxidative phosphorylation defect type 4"
},
{
"code" : "255182",
"display" : "Pyruvate dehydrogenase E3-binding protein deficiency"
},
{
"code" : "255229",
"display" : "Navajo neurohepatopathy"
},
{
"code" : "261250",
"display" : "16q24.3 microdeletion syndrome"
},
{
"code" : "261501",
"display" : "Atypical Norrie disease due to Xp11.3 microdeletion"
},
{
"code" : "261552",
"display" : "Mowat-Wilson syndrome due to a ZEB2 point mutation"
},
{
"code" : "261584",
"display" : "Familial adenomatous polyposis due to 5q22.2 microdeletion"
},
{
"code" : "261647",
"display" : "Okihiro syndrome due to a point mutation"
},
{
"code" : "263310",
"display" : "Thymoma type A"
},
{
"code" : "263339",
"display" : "Poorly differentiated thymic neuroendocrine carcinoma"
},
{
"code" : "263501",
"display" : "COG4-CDG"
},
{
"code" : "264688",
"display" : "Congenital chylothorax"
},
{
"code" : "268145",
"display" : "Classic maple syrup urine disease"
},
{
"code" : "268882",
"display" : "Arnold-Chiari malformation type I"
},
{
"code" : "268940",
"display" : "Bilateral polymicrogyria"
},
{
"code" : "269001",
"display" : "Isolated focal cortical dysplasia type IIa"
},
{
"code" : "269197",
"display" : "Glioependymal/ependymal cyst"
},
{
"code" : "275777",
"display" : "Heritable pulmonary arterial hypertension"
},
{
"code" : "275944",
"display" : "Hemolytic disease of the newborn with Kell alloimmunization"
},
{
"code" : "276198",
"display" : "Spinocerebellar ataxia type 36"
},
{
"code" : "276399",
"display" : "Familial multinodular goiter"
},
{
"code" : "276413",
"display" : "10q22.3q23.3 microdeletion syndrome"
},
{
"code" : "276429",
"display" : "Hypnic headache"
},
{
"code" : "279897",
"display" : "Primary oculocerebral lymphoma"
},
{
"code" : "280071",
"display" : "ALG11-CDG"
},
{
"code" : "280133",
"display" : "Complement component 3 deficiency"
},
{
"code" : "280219",
"display" : "Pelizaeus-Merzbacher disease, classic form"
},
{
"code" : "280224",
"display" : "Pelizaeus-Merzbacher disease, transitional form"
},
{
"code" : "280229",
"display" : "Pelizaeus-Merzbacher disease in female carriers"
},
{
"code" : "280315",
"display" : "Autoimmune pancreatitis type 2"
},
{
"code" : "280640",
"display" : "Occipital pachygyria and polymicrogyria"
},
{
"code" : "280671",
"display" : "Megaconial congenital muscular dystrophy"
},
{
"code" : "280785",
"display" : "Bullous diffuse cutaneous mastocytosis"
},
{
"code" : "280802",
"display" : "Intralobar congenital pulmonary sequestration"
},
{
"code" : "280921",
"display" : "Idiopathic panuveitis"
},
{
"code" : "281122",
"display" : "Self-improving collodion baby"
},
{
"code" : "281201",
"display" : "Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome"
},
{
"code" : "284160",
"display" : "8q21.11 microdeletion syndrome"
},
{
"code" : "284282",
"display" : "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency"
},
{
"code" : "284332",
"display" : "Infantile-onset autosomal recessive nonprogressive cerebellar ataxia"
},
{
"code" : "284426",
"display" : "Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency"
},
{
"code" : "284448",
"display" : "CLIPPERS"
},
{
"code" : "284963",
"display" : "Marfan syndrome type 1"
},
{
"code" : "289176",
"display" : "Autosomal recessive hypophosphatemic rickets"
},
{
"code" : "289290",
"display" : "Hypermethioninemia encephalopathy due to adenosine kinase deficiency"
},
{
"code" : "289326",
"display" : "Tropical spastic paraparesis"
},
{
"code" : "289666",
"display" : "Plasmablastic lymphoma"
},
{
"code" : "289860",
"display" : "Infantile glycine encephalopathy"
},
{
"code" : "289877",
"display" : "Transient hyperammonemia of the newborn"
},
{
"code" : "294016",
"display" : "Microcephaly-capillary malformation syndrome"
},
{
"code" : "295197",
"display" : "Synpolydactyly type 2"
},
{
"code" : "295229",
"display" : "Congenital genu recurvatum"
},
{
"code" : "300298",
"display" : "Severe congenital hypochromic anemia with ringed sideroblasts"
},
{
"code" : "300305",
"display" : "11p15.4 microduplication syndrome"
},
{
"code" : "300496",
"display" : "Multiple congenital anomalies-hypotonia-seizures syndrome type 2"
},
{
"code" : "300536",
"display" : "DDOST-CDG"
},
{
"code" : "300570",
"display" : "Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation"
},
{
"code" : "300573",
"display" : "Polymicrogyria due to TUBB2B mutation"
},
{
"code" : "306527",
"display" : "Isolated hereditary congenital facial paralysis"
},
{
"code" : "306686",
"display" : "Delayed encephalopathy due to carbon monoxide poisoning"
},
{
"code" : "308487",
"display" : "Generalized galactose epimerase deficiency"
},
{
"code" : "309239",
"display" : "Tay-Sachs disease, B1 variant"
},
{
"code" : "309263",
"display" : "Metachromatic leukodystrophy, juvenile form"
},
{
"code" : "313850",
"display" : "Infantile cerebellar-retinal degeneration"
},
{
"code" : "313884",
"display" : "12p12.1 microdeletion syndrome"
},
{
"code" : "313906",
"display" : "Congenital pancreatic cyst"
},
{
"code" : "313936",
"display" : "PENS syndrome"
},
{
"code" : "314002",
"display" : "Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome"
},
{
"code" : "314041",
"display" : "Marfanoid habitus-inguinal hernia-advanced bone age syndrome"
},
{
"code" : "314432",
"display" : "Spigelian hernia-cryptorchidism syndrome"
},
{
"code" : "314466",
"display" : "Atypical Meigs syndrome"
},
{
"code" : "314585",
"display" : "15q overgrowth syndrome"
},
{
"code" : "314718",
"display" : "Lethal arteriopathy syndrome due to fibulin-4 deficiency"
},
{
"code" : "314811",
"display" : "Short stature due to GHSR deficiency"
},
{
"code" : "314978",
"display" : "X-linked non progressive cerebellar ataxia"
},
{
"code" : "319223",
"display" : "Argentine hemorrhagic fever"
},
{
"code" : "319244",
"display" : "Chapare hemorrhagic fever"
},
{
"code" : "319266",
"display" : "Omsk hemorrhagic fever"
},
{
"code" : "319332",
"display" : "Autosomal recessive myogenic arthrogryposis multiplex congenita"
},
{
"code" : "319547",
"display" : "Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency"
},
{
"code" : "319640",
"display" : "Retinal macular dystrophy type 2"
},
{
"code" : "319671",
"display" : "Alazami syndrome"
},
{
"code" : "320401",
"display" : "Autosomal recessive spastic paraplegia type 44"
},
{
"code" : "324299",
"display" : "Multiple paragangliomas associated with polycythemia"
},
{
"code" : "324364",
"display" : "Mixed sclerosing bone dystrophy with extra-skeletal manifestations"
},
{
"code" : "324416",
"display" : "Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome"
},
{
"code" : "324442",
"display" : "Autosomal recessive axonal neuropathy with neuromyotonia"
},
{
"code" : "324585",
"display" : "Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain"
},
{
"code" : "324625",
"display" : "Chikungunya"
},
{
"code" : "329178",
"display" : "Congenital muscular dystrophy with intellectual disability and severe epilepsy"
},
{
"code" : "329224",
"display" : "Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome"
},
{
"code" : "329242",
"display" : "Congenital chronic diarrhea with protein-losing enteropathy"
},
{
"code" : "329258",
"display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2Q"
},
{
"code" : "329314",
"display" : "Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency"
},
{
"code" : "329457",
"display" : "Distal arthrogryposis type 5D"
},
{
"code" : "329813",
"display" : "Mosaic genome-wide paternal uniparental disomy"
},
{
"code" : "330041",
"display" : "Hemoglobin M disease"
},
{
"code" : "330054",
"display" : "Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome"
},
{
"code" : "330061",
"display" : "Actinic prurigo"
},
{
"code" : "331190",
"display" : "Immunodeficiency due to ficolin3 deficiency"
},
{
"code" : "352403",
"display" : "Spectrin-associated autosomal recessive cerebellar ataxia"
},
{
"code" : "352470",
"display" : "DNA2-related mitochondrial DNA deletion syndrome"
},
{
"code" : "352577",
"display" : "Bainbridge-Ropers syndrome"
},
{
"code" : "352582",
"display" : "Familial infantile myoclonic epilepsy"
},
{
"code" : "352662",
"display" : "Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome"
},
{
"code" : "353253",
"display" : "Burning mouth syndrome"
},
{
"code" : "353308",
"display" : "Pyruvate carboxylase deficiency, infantile type"
},
{
"code" : "353320",
"display" : "Pyruvate carboxylase deficiency, benign type"
},
{
"code" : "353327",
"display" : "Congenital myasthenic syndromes with glycosylation defect"
},
{
"code" : "353344",
"display" : "Idiopathic macular telangiectasia type 1"
},
{
"code" : "356947",
"display" : "3q26q27 microdeletion syndrome"
},
{
"code" : "357001",
"display" : "19p13.13 microdeletion syndrome"
},
{
"code" : "363558",
"display" : "New-onset refractory status epilepticus"
},
{
"code" : "363705",
"display" : "Craniofaciofrontodigital syndrome"
},
{
"code" : "363722",
"display" : "Alexander disease type II"
},
{
"code" : "364063",
"display" : "Infantile epileptic-dyskinetic encephalopathy"
},
{
"code" : "369852",
"display" : "Congenital neutropenia-myelofibrosis-nephromegaly syndrome"
},
{
"code" : "369950",
"display" : "Intellectual disability-seizures-macrocephaly-obesity syndrome"
},
{
"code" : "369955",
"display" : "Methylmalonic acidemia with homocystinuria, type cblJ"
},
{
"code" : "369999",
"display" : "Diffuse palmoplantar keratoderma with painful fissures"
},
{
"code" : "370046",
"display" : "Didymosis aplasticosebacea"
},
{
"code" : "370079",
"display" : "Proximal 16p11.2 microduplication syndrome"
},
{
"code" : "370127",
"display" : "Medich giant platelet syndrome"
},
{
"code" : "370334",
"display" : "Extraskeletal Ewing sarcoma"
},
{
"code" : "371007",
"display" : "Congenital muscular dystrophy with hyperlaxity"
},
{
"code" : "371428",
"display" : "Multicentric osteolysis-nodulosis-arthropathy spectrum"
},
{
"code" : "391311",
"display" : "Susceptibility to viral and mycobacterial infections due to STAT1 deficiency"
},
{
"code" : "391330",
"display" : "X-linked osteoporosis with fractures"
},
{
"code" : "391389",
"display" : "Familial episodic pain syndrome with predominantly upper body involvement"
},
{
"code" : "391397",
"display" : "Hereditary sensory and autonomic neuropathy type 7"
},
{
"code" : "391677",
"display" : "Short stature-optic atrophy-Pelger-Huët anomaly syndrome"
},
{
"code" : "394529",
"display" : "Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type"
},
{
"code" : "397606",
"display" : "PrP systemic amyloidosis"
},
{
"code" : "397755",
"display" : "Periodic paralysis with transient compartment-like syndrome"
},
{
"code" : "397758",
"display" : "Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies"
},
{
"code" : "398053",
"display" : "Adenocarcinoma of the penis"
},
{
"code" : "398063",
"display" : "Refractory celiac disease"
},
{
"code" : "399805",
"display" : "Male infertility with azoospermia or oligozoospermia due to single gene mutation"
},
{
"code" : "401810",
"display" : "Autosomal recessive spastic paraplegia type 64"
},
{
"code" : "401820",
"display" : "Autosomal recessive spastic paraplegia type 67"
},
{
"code" : "401901",
"display" : "Huntington disease-like syndrome due to C9ORF72 expansions"
},
{
"code" : "401953",
"display" : "Episodic ataxia with slurred speech"
},
{
"code" : "401979",
"display" : "Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type"
},
{
"code" : "402026",
"display" : "Acute myeloid leukemia with NPM1 somatic mutations"
},
{
"code" : "404476",
"display" : "Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome"
},
{
"code" : "411634",
"display" : "Juvenile nephropathic cystinosis"
},
{
"code" : "411777",
"display" : "Generalized eruptive keratoacanthoma"
},
{
"code" : "411788",
"display" : "Familial isolated trichomegaly"
},
{
"code" : "412189",
"display" : "Epidermolysis bullosa simplex due to exophilin 5 deficiency"
},
{
"code" : "418959",
"display" : "Squamous cell carcinoma of the stomach"
},
{
"code" : "420566",
"display" : "Bleeding disorder due to CalDAG-GEFI deficiency"
},
{
"code" : "420611",
"display" : "Transient myeloproliferative syndrome"
},
{
"code" : "422526",
"display" : "Hereditary clear cell renal cell carcinoma"
},
{
"code" : "423717",
"display" : "Cutaneous larva migrans"
},
{
"code" : "424002",
"display" : "Squamous cell carcinoma of the rectum"
},
{
"code" : "424080",
"display" : "Undifferentiated carcinoma with osteoclast-like giant cells of pancreas"
},
{
"code" : "424107",
"display" : "Congenital myopathy with myasthenic-like onset"
},
{
"code" : "424970",
"display" : "Undifferentiated carcinoma of liver and intrahepatic biliary tract"
},
{
"code" : "424996",
"display" : "Squamous cell carcinoma of gallbladder and extrahepatic biliary tract"
},
{
"code" : "425120",
"display" : "STING-associated vasculopathy with onset in infancy"
},
{
"code" : "435372",
"display" : "Anterior urethral valve"
},
{
"code" : "435938",
"display" : "X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome"
},
{
"code" : "436141",
"display" : "Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome"
},
{
"code" : "436242",
"display" : "Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease"
},
{
"code" : "436271",
"display" : "Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy"
},
{
"code" : "438216",
"display" : "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation"
},
{
"code" : "439212",
"display" : "Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome"
},
{
"code" : "439232",
"display" : "AApoAIV amyloidosis"
},
{
"code" : "440221",
"display" : "Congenital oculomotor nerve palsy"
},
{
"code" : "440427",
"display" : "Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency"
},
{
"code" : "442582",
"display" : "AH amyloidosis"
},
{
"code" : "443087",
"display" : "46,XY difference of sex development due to testicular 17,20-desmolase deficiency"
},
{
"code" : "443197",
"display" : "X-linked erythropoietic protoporphyria"
},
{
"code" : "443811",
"display" : "PGM3-CDG"
},
{
"code" : "443950",
"display" : "DNAJB2-related Charcot-Marie-Tooth disease type 2"
},
{
"code" : "444458",
"display" : "Combined oxidative phosphorylation defect type 24"
},
{
"code" : "444463",
"display" : "Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome"
},
{
"code" : "447753",
"display" : "Autosomal dominant spastic paraplegia type 9A"
},
{
"code" : "447881",
"display" : "Idiopathic dropped head syndrome"
},
{
"code" : "447964",
"display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2V"
},
{
"code" : "448270",
"display" : "Ectopia cordis"
},
{
"code" : "454710",
"display" : "Anti-p200 pemphigoid"
},
{
"code" : "454742",
"display" : "Variably protease-sensitive prionopathy"
},
{
"code" : "456298",
"display" : "1p35.2 microdeletion syndrome"
},
{
"code" : "5",
"display" : "Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency"
},
{
"code" : "14",
"display" : "Abetalipoproteinemia"
},
{
"code" : "17",
"display" : "Fatal infantile lactic acidosis with methylmalonic aciduria"
},
{
"code" : "24",
"display" : "Fumaric aciduria"
},
{
"code" : "41",
"display" : "Dyschromatosis symmetrica hereditaria"
},
{
"code" : "50",
"display" : "Aicardi syndrome"
},
{
"code" : "67",
"display" : "Amoebiasis due to Entamoeba histolytica"
},
{
"code" : "74",
"display" : "Angiostrongyliasis"
},
{
"code" : "82",
"display" : "Hereditary thrombophilia due to congenital antithrombin deficiency"
},
{
"code" : "101",
"display" : "Dentatorubral pallidoluysian atrophy"
},
{
"code" : "107",
"display" : "BOR syndrome"
},
{
"code" : "110",
"display" : "Bardet-Biedl syndrome"
},
{
"code" : "119",
"display" : "Beta-sarcoglycan-related limb-girdle muscular dystrophy R4"
},
{
"code" : "125",
"display" : "Bloom syndrome"
},
{
"code" : "127",
"display" : "Borjeson-Forssman-Lehmann syndrome"
},
{
"code" : "133",
"display" : "Chronic beryllium disease"
},
{
"code" : "136",
"display" : "Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy"
},
{
"code" : "138",
"display" : "CHARGE syndrome"
},
{
"code" : "140",
"display" : "Campomelic dysplasia"
},
{
"code" : "464458",
"display" : "Paracetamol poisoning"
},
{
"code" : "464756",
"display" : "Familial gastric type 1 neuroendocrine tumor"
},
{
"code" : "464760",
"display" : "Familial cavitary optic disc anomaly"
},
{
"code" : "466775",
"display" : "Autosomal recessive Charcot-Marie-Tooth disease type 2X"
},
{
"code" : "467176",
"display" : "Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome"
},
{
"code" : "468661",
"display" : "Autosomal recessive spastic paraplegia type 74"
},
{
"code" : "468684",
"display" : "CCDC115-CDG"
},
{
"code" : "468726",
"display" : "Severe primary trimethylaminuria"
},
{
"code" : "476102",
"display" : "Hereditary pediatric Behçet-like disease"
},
{
"code" : "477673",
"display" : "Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome"
},
{
"code" : "477781",
"display" : "Primary condylar hyperplasia"
},
{
"code" : "477831",
"display" : "Kosaki overgrowth syndrome"
},
{
"code" : "480476",
"display" : "Progressive familial intrahepatic cholestasis type 5"
},
{
"code" : "480541",
"display" : "High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement"
},
{
"code" : "480682",
"display" : "POGLUT1-related limb-girdle muscular dystrophy R21"
},
{
"code" : "485275",
"display" : "Acquired schizencephaly"
},
{
"code" : "488232",
"display" : "Split-foot malformation-mesoaxial polydactyly syndrome"
},
{
"code" : "488280",
"display" : "14q32 duplication syndrome"
},
{
"code" : "488434",
"display" : "Camptodactyly syndrome, Guadalajara type 3"
},
{
"code" : "488647",
"display" : "DDX41-related hematologic malignancy predisposition syndrome"
},
{
"code" : "493342",
"display" : "Vibratory urticaria"
},
{
"code" : "494344",
"display" : "RERE-related neurodevelopmental syndrome"
},
{
"code" : "494439",
"display" : "Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome"
},
{
"code" : "495930",
"display" : "Familial monosomy 7 syndrome"
},
{
"code" : "496693",
"display" : "Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome"
},
{
"code" : "496751",
"display" : "EVEN-plus syndrome"
},
{
"code" : "497906",
"display" : "Childhood-onset basal ganglia degeneration syndrome"
},
{
"code" : "498481",
"display" : "LRP5-related primary osteoporosis"
},
{
"code" : "499096",
"display" : "Isolated optic neuritis"
},
{
"code" : "500062",
"display" : "Infantile-onset periodic fever-panniculitis-dermatosis syndrome"
},
{
"code" : "500478",
"display" : "Squamous cell carcinoma of the oropharynx"
},
{
"code" : "502318",
"display" : "Cochlear nerve deficiency"
},
{
"code" : "502444",
"display" : "Alkaline ceramidase 3 deficiency"
},
{
"code" : "504530",
"display" : "Combined immunodeficiency due to Moesin deficiency"
},
{
"code" : "505248",
"display" : "Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders"
},
{
"code" : "506112",
"display" : "Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas"
},
{
"code" : "506334",
"display" : "Familial steroid-resistant nephrotic syndrome with adrenal insufficiency"
},
{
"code" : "512260",
"display" : "Congenital cerebellar ataxia due to RNU12 mutation"
},
{
"code" : "513436",
"display" : "Autosomal recessive spastic paraplegia type 78"
},
{
"code" : "519386",
"display" : "Isolated congenital entropion"
},
{
"code" : "519396",
"display" : "Isolated microspherophakia"
},
{
"code" : "521123",
"display" : "Radiation-induced plexopathy"
},
{
"code" : "521406",
"display" : "Dystonia-parkinsonism-hypermanganesemia syndrome"
},
{
"code" : "521432",
"display" : "Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome"
},
{
"code" : "525738",
"display" : "Prepubertal anorexia nervosa"
},
{
"code" : "527276",
"display" : "Encephalopathy due to mitochondrial and peroxisomal fission defect"
},
{
"code" : "528647",
"display" : "Hereditary angioedema with normal C1Inh"
},
{
"code" : "529808",
"display" : "Chronic bilirubin encephalopathy"
},
{
"code" : "536467",
"display" : "B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome"
},
{
"code" : "538866",
"display" : "Pustular pyoderma gangrenosum"
},
{
"code" : "555407",
"display" : "NAD(P)HX epimerase deficiency"
},
{
"code" : "556955",
"display" : "Pancreatic agenesis-holoprosencephaly syndrome"
{
"code" : "85188",
"display" : "Metaphyseal dysplasia, Braun-Tinschert type"
},
{
"code" : "85192",
"display" : "Calvarial doughnut lesions-bone fragility syndrome"
},
{
"code" : "85194",
"display" : "Spondylo-ocular syndrome"
},
{
"code" : "85197",
"display" : "Genochondromatosis type 1"
},
{
"code" : "85282",
"display" : "MEHMO syndrome"
},
{
"code" : "85292",
"display" : "X-linked spinocerebellar ataxia type 4"
},
{
"code" : "85319",
"display" : "X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome"
},
{
"code" : "85320",
"display" : "X-linked intellectual disability-macrocephaly-macroorchidism syndrome"
},
{
"code" : "85327",
"display" : "X-linked intellectual disability-acromegaly-hyperactivity syndrome"
},
{
"code" : "85329",
"display" : "X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome"
},
{
"code" : "85332",
"display" : "X-linked intellectual disability-retinitis pigmentosa syndrome"
},
{
"code" : "85335",
"display" : "Fried syndrome"
},
{
"code" : "85438",
"display" : "Enthesitis-related juvenile idiopathic arthritis"
},
{
"code" : "85450",
"display" : "Hereditary amyloidosis with primary renal involvement"
},
{
"code" : "86813",
"display" : "Helicoid peripapillary chorioretinal degeneration"
},
{
"code" : "86834",
"display" : "Juvenile myelomonocytic leukemia"
},
{
"code" : "86841",
"display" : "Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality"
},
{
"code" : "86849",
"display" : "Acute basophilic leukemia"
},
{
"code" : "86852",
"display" : "B-cell prolymphocytic leukemia"
},
{
"code" : "86870",
"display" : "Blastic plasmacytoid dendritic cell neoplasm"
},
{
"code" : "86908",
"display" : "Idiopathic hemiconvulsion-hemiplegia syndrome"
},
{
"code" : "86920",
"display" : "Dermatopathia pigmentosa reticularis"
},
{
"code" : "88618",
"display" : "S-adenosylhomocysteine hydrolase deficiency"
},
{
"code" : "88628",
"display" : "Posterior column ataxia-retinitis pigmentosa syndrome"
},
{
"code" : "88630",
"display" : "Terminal osseous dysplasia-pigmentary defects syndrome"
},
{
"code" : "88643",
"display" : "Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome"
},
{
"code" : "88950",
"display" : "UMOD-related autosomal dominant tubulointerstitial kidney disease"
},
{
"code" : "89843",
"display" : "Dystrophic epidermolysis bullosa pruriginosa"
},
{
"code" : "89938",
"display" : "Bartter syndrome type 4"
},
{
"code" : "90026",
"display" : "Primary erythromelalgia"
},
{
"code" : "90035",
"display" : "Paroxysmal cold hemoglobinuria"
},
{
"code" : "90036",
"display" : "Mixed-type autoimmune hemolytic anemia"
},
{
"code" : "90038",
"display" : "Shiga toxin-associated hemolytic uremic syndrome"
},
{
"code" : "90041",
"display" : "Gaisböck syndrome"
},
{
"code" : "90119",
"display" : "Hereditary motor and sensory neuropathy with acrodystrophy"
},
{
"code" : "90157",
"display" : "Drug-induced localized lipodystrophy"
},
{
"code" : "90282",
"display" : "Hypertrophic or verrucous lupus erythematosus"
},
{
"code" : "90285",
"display" : "Lupus erythematosus panniculitis"
},
{
"code" : "90307",
"display" : "Parkes Weber syndrome"
},
{
"code" : "90647",
"display" : "Jervell and Lange-Nielsen syndrome"
},
{
"code" : "90674",
"display" : "Isolated thyroid-stimulating hormone deficiency"
},
{
"code" : "91136",
"display" : "Acquired monoclonal Ig light chain-associated Fanconi syndrome"
},
{
"code" : "91140",
"display" : "Unspecified juvenile idiopathic arthritis"
},
{
"code" : "93108",
"display" : "Renal dysplasia"
},
{
"code" : "93114",
"display" : "Autosomal dominant intermediate Charcot-Marie-Tooth disease type E"
},
{
"code" : "93259",
"display" : "Pfeiffer syndrome type 2"
},
{
"code" : "93260",
"display" : "Pfeiffer syndrome type 3"
},
{
"code" : "93268",
"display" : "Short rib-polydactyly syndrome, Beemer-Langer type"
},
{
"code" : "93269",
"display" : "Short rib-polydactyly syndrome, Majewski type"
},
{
"code" : "93274",
"display" : "Thanatophoric dysplasia type 2"
},
{
"code" : "93284",
"display" : "Spondyloepiphyseal dysplasia tarda"
},
{
"code" : "93304",
"display" : "Autosomal dominant brachyolmia"
},
{
"code" : "93325",
"display" : "Autosomal dominant Kenny-Caffey syndrome"
},
{
"code" : "93329",
"display" : "Autosomal recessive omodysplasia"
},
{
"code" : "93372",
"display" : "Familial hypocalciuric hypercalcemia type 1"
},
{
"code" : "93388",
"display" : "Brachydactyly type A1"
},
{
"code" : "93409",
"display" : "Brachydactyly-syndactyly, Zhao type"
},
{
"code" : "93476",
"display" : "Hurler-Scheie syndrome"
},
{
"code" : "93598",
"display" : "Primary hyperoxaluria type 1"
},
{
"code" : "93608",
"display" : "Autosomal dominant distal renal tubular acidosis"
},
{
"code" : "93622",
"display" : "Dent disease type 1"
},
{
"code" : "93623",
"display" : "Dent disease type 2"
},
{
"code" : "93672",
"display" : "Juvenile dermatomyositis"
},
{
"code" : "93924",
"display" : "Lobar holoprosencephaly"
},
{
"code" : "93938",
"display" : "Laryngotracheoesophageal cleft type 1"
},
{
"code" : "93953",
"display" : "Familial thyroglossal duct cyst"
},
{
"code" : "94059",
"display" : "Uremic pruritus"
},
{
"code" : "94083",
"display" : "Partington syndrome"
},
{
"code" : "94091",
"display" : "Mills syndrome"
},
{
"code" : "94147",
"display" : "Spinocerebellar ataxia type 7"
},
{
"code" : "95461",
"display" : "Straddling or overriding tricuspid valve"
},
{
"code" : "95465",
"display" : "Cleft mitral valve"
},
{
"code" : "95619",
"display" : "Post-traumatic pituitary deficiency"
},
{
"code" : "95700",
"display" : "Familial adrenal hypoplasia with absent pituitary luteinizing hormone"
},
{
"code" : "95717",
"display" : "Idiopathic congenital hypothyroidism"
},
{
"code" : "96076",
"display" : "Beckwith-Wiedemann syndrome due to 11p15 microduplication"
},
{
"code" : "96100",
"display" : "Distal duplication 8q"
},
{
"code" : "96150",
"display" : "Distal deletion 14q"
},
{
"code" : "96160",
"display" : "Non-distal deletion 12q"
},
{
"code" : "96168",
"display" : "Monosomy 13q34"
},
{
"code" : "96263",
"display" : "48,XXXY syndrome"
},
{
"code" : "96265",
"display" : "Leydig cell hypoplasia due to complete LH resistance"
},
{
"code" : "97244",
"display" : "Rigid spine syndrome"
},
{
"code" : "97287",
"display" : "Bronchial neuroendocrine tumor"
},
{
"code" : "97297",
"display" : "Bohring-Opitz syndrome"
},
{
"code" : "97345",
"display" : "ABri amyloidosis"
},
{
"code" : "97361",
"display" : "Renal hypoplasia, unilateral"
},
{
"code" : "97560",
"display" : "Primary membranous glomerulonephritis"
},
{
"code" : "98606",
"display" : "Syndromic orbital border hypoplasia"
},
{
"code" : "98766",
"display" : "Spinocerebellar ataxia type 5"
},
{
"code" : "98784",
"display" : "Autosomal dominant nocturnal frontal lobe epilepsy"
},
{
"code" : "98793",
"display" : "Prader-Willi syndrome due to paternal 15q11q13 deletion"
},
{
"code" : "98798",
"display" : "Isochromosomy Yq"
},
{
"code" : "98808",
"display" : "Autosomal dominant dopa-responsive dystonia"
},
{
"code" : "98825",
"display" : "Unclassified myelodysplastic/myeloproliferative disease"
},
{
"code" : "98831",
"display" : "Acute myeloid leukemia with 11q23 abnormalities"
},
{
"code" : "98841",
"display" : "Anaplastic large cell lymphoma"
},
{
"code" : "98868",
"display" : "Southeast Asian ovalocytosis"
},
{
"code" : "98872",
"display" : "Primary acquired pure red cell aplasia"
},
{
"code" : "98880",
"display" : "Familial afibrinogenemia"
},
{
"code" : "98897",
"display" : "Oculopharyngodistal myopathy"
},
{
"code" : "98902",
"display" : "Amish nemaline myopathy"
},
{
"code" : "98907",
"display" : "Neutral lipid storage disease with ichthyosis"
},
{
"code" : "98922",
"display" : "Blake pouch cyst"
},
{
"code" : "98942",
"display" : "Coloboma of choroid and retina"
},
{
"code" : "98945",
"display" : "Coloboma of macula"
},
{
"code" : "98964",
"display" : "Lattice corneal dystrophy type I"
},
{
"code" : "98972",
"display" : "Central cloudy dystrophy of François"
},
{
"code" : "98974",
"display" : "Fuchs endothelial corneal dystrophy"
},
{
"code" : "98976",
"display" : "Congenital glaucoma"
},
{
"code" : "98980",
"display" : "Cogan-Reese syndrome"
},
{
"code" : "98994",
"display" : "Total early-onset cataract"
},
{
"code" : "99001",
"display" : "Butterfly-shaped pigment dystrophy"
},
{
"code" : "99003",
"display" : "Multifocal pattern dystrophy simulating fundus flavimaculatus"
},
{
"code" : "99042",
"display" : "Congenitally uncorrected transposition of the great arteries with coarctation"
},
{
"code" : "99045",
"display" : "Double outlet right ventricle with subpulmonary ventricular septal defect"
},
{
"code" : "99064",
"display" : "Straddling and/or overriding mitral valve"
},
{
"code" : "99068",
"display" : "Complete atrioventricular septal defect-tetralogy of Fallot"
},
{
"code" : "99081",
"display" : "Right aortic arch"
},
{
"code" : "99099",
"display" : "Cor triatriatum sinister"
},
{
"code" : "99102",
"display" : "Ectasia of the left atrial appendage"
},
{
"code" : "99121",
"display" : "Azygos continuation of the inferior vena cava"
},
{
"code" : "99125",
"display" : "Congenital total pulmonary venous return anomaly"
},
{
"code" : "99130",
"display" : "Congenital partial agenesis of pericardium"
},
{
"code" : "99139",
"display" : "Unstable hemoglobin disease"
},
{
"code" : "99324",
"display" : "Paternal uniparental disomy of chromosome 13"
},
{
"code" : "99646",
"display" : "Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria"
},
{
"code" : "99672",
"display" : "Fried's tooth and nail syndrome"
},
{
"code" : "99710",
"display" : "Punctate acrokeratoderma freckle-like pigmentation"
},
{
"code" : "99749",
"display" : "Kostmann syndrome"
},
{
"code" : "99796",
"display" : "Subcortical band heterotopia"
},
{
"code" : "99810",
"display" : "Familial porencephaly"
},
{
"code" : "99819",
"display" : "Familial gestational hyperthyroidism"
},
{
"code" : "99880",
"display" : "Hyperparathyroidism-jaw tumor syndrome"
},
{
"code" : "99907",
"display" : "House allergic alveolitis"
},
{
"code" : "99914",
"display" : "Gynandroblastoma"
},
{
"code" : "99920",
"display" : "Acute graft versus host disease"
},
{
"code" : "99921",
"display" : "Chronic graft versus host disease"
},
{
"code" : "99926",
"display" : "Gestational choriocarcinoma"
},
{
"code" : "99971",
"display" : "Well-differentiated liposarcoma"
},
{
"code" : "100008",
"display" : "ACys amyloidosis"
},
{
"code" : "100019",
"display" : "Refractory anemia with excess blasts type 1"
},
{
"code" : "100021",
"display" : "Primary plasmacytoma of the bone"
},
{
"code" : "100022",
"display" : "Extramedullary soft tissue plasmacytoma"
},
{
"code" : "100070",
"display" : "Progressive non-fluent aphasia"
},
{
"code" : "100974",
"display" : "FRAXF syndrome"
},
{
"code" : "100988",
"display" : "Autosomal dominant spastic paraplegia type 6"
},
{
"code" : "100996",
"display" : "Autosomal recessive spastic paraplegia type 15"
},
{
"code" : "101007",
"display" : "Autosomal recessive spastic paraplegia type 27"
},
{
"code" : "101030",
"display" : "Subependymal nodular heterotopia"
},
{
"code" : "101070",
"display" : "Bilateral frontoparietal polymicrogyria"
},
{
"code" : "101078",
"display" : "X-linked Charcot-Marie-Tooth disease type 4"
},
{
"code" : "101081",
"display" : "Charcot-Marie-Tooth disease type 1A"
},
{
"code" : "101090",
"display" : "Hyper-IgM syndrome type 3"
},
{
"code" : "101096",
"display" : "Aregenerative anemia"
},
{
"code" : "101104",
"display" : "Marin-Amat syndrome"
},
{
"code" : "103910",
"display" : "Congenital enterocyte heparan sulfate deficiency"
},
{
"code" : "104078",
"display" : "Unclassified intestinal pseudoobstruction"
},
{
"code" : "137888",
"display" : "Auriculocondylar syndrome"
},
{
"code" : "139414",
"display" : "Congenital panfollicular nevus"
},
{
"code" : "139436",
"display" : "Multicentric reticulohistiocytosis"
},
{
"code" : "139515",
"display" : "Charcot-Marie-Tooth disease type 4J"
},
{
"code" : "139564",
"display" : "Hereditary sensory and autonomic neuropathy type 1B"
},
{
"code" : "139573",
"display" : "Hereditary sensory and autonomic neuropathy with deafness and global delay"
},
{
"code" : "140922",
"display" : "Titin-related limb-girdle muscular dystrophy R10"
},
{
"code" : "140966",
"display" : "Palmoplantar keratoderma, Nagashima type"
},
{
"code" : "141037",
"display" : "Fourth branchial cleft anomaly"
},
{
"code" : "141115",
"display" : "Nasal ganglioglioma"
},
{
"code" : "141194",
"display" : "Cerebrofacial arteriovenous metameric syndrome type 1"
},
{
"code" : "155878",
"display" : "Submucosal cleft palate"
},
{
"code" : "156731",
"display" : "Dyssegmental dysplasia, Rolland-Desbuquois type"
},
{
"code" : "157713",
"display" : "Congenital or early infantile CACH syndrome"
},
{
"code" : "157716",
"display" : "Late infantile CACH syndrome"
},
{
"code" : "158019",
"display" : "Indeterminate cell histiocytosis"
},
{
"code" : "158029",
"display" : "Sea-blue histiocytosis"
},
{
"code" : "163634",
"display" : "Maffucci syndrome"
},
{
"code" : "163649",
"display" : "Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome"
},
{
"code" : "163662",
"display" : "Spondyloepiphyseal dysplasia, Reardon type"
},
{
"code" : "163696",
"display" : "Action myoclonus-renal failure syndrome"
},
{
"code" : "163746",
"display" : "Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease"
},
{
"code" : "164726",
"display" : "Acute myeloid leukemia and myelodysplastic syndromes related to radiation"
},
{
"code" : "164736",
"display" : "Familial advanced sleep-phase syndrome"
},
{
"code" : "166002",
"display" : "Multiple epiphyseal dysplasia due to collagen 9 anomaly"
},
{
"code" : "166024",
"display" : "Multiple epiphyseal dysplasia, Al-Gazali type"
},
{
"code" : "166038",
"display" : "Metaphyseal chondrodysplasia, Kaitila type"
},
{
"code" : "166063",
"display" : "Pontocerebellar hypoplasia type 4"
},
{
"code" : "166084",
"display" : "Von Willebrand disease type 2A"
},
{
"code" : "166100",
"display" : "Autosomal dominant otospondylomegaepiphyseal dysplasia"
},
{
"code" : "166108",
"display" : "Intellectual disability, Birk-Barel type"
},
{
"code" : "166277",
"display" : "Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia"
},
{
"code" : "166291",
"display" : "Dirofilariasis"
},
{
"code" : "168782",
"display" : "Childhood disintegrative disorder"
},
{
"code" : "169095",
"display" : "Severe combined immunodeficiency due to FOXN1 deficiency"
},
{
"code" : "169139",
"display" : "Transient hypogammaglobulinemia of infancy"
},
{
"code" : "169467",
"display" : "Recurrent Neisseria infections due to factor D deficiency"
},
{
"code" : "171436",
"display" : "Typical nemaline myopathy"
},
{
"code" : "171445",
"display" : "Muscle filaminopathy"
},
{
"code" : "171612",
"display" : "Autosomal dominant spastic paraplegia type 37"
},
{
"code" : "171695",
"display" : "Parkinsonian-pyramidal syndrome"
},
{
"code" : "171706",
"display" : "Short stature-delayed bone age due to thyroid hormone metabolism deficiency"
},
{
"code" : "171829",
"display" : "6q16 microdeletion syndrome"
},
{
"code" : "171851",
"display" : "MEDNIK syndrome"
},
{
"code" : "171881",
"display" : "Cap myopathy"
},
{
"code" : "171889",
"display" : "Myopathy with hexagonally cross-linked tubular arrays"
},
{
"code" : "178506",
"display" : "Brain calcification, Rajab type"
},
{
"code" : "178512",
"display" : "Folliculotropic mycosis fungoides"
},
{
"code" : "178517",
"display" : "Localized pagetoid reticulosis"
},
{
"code" : "179494",
"display" : "Obesity due to leptin receptor gene deficiency"
},
{
"code" : "180114",
"display" : "Unicervical bicornuate uterus"
},
{
"code" : "180126",
"display" : "Complete septate uterus"
},
{
"code" : "180139",
"display" : "Uterine hypoplasia"
},
{
"code" : "180145",
"display" : "Uterine cervical aplasia and agenesis"
},
{
"code" : "180229",
"display" : "Polyembryoma"
},
{
"code" : "180261",
"display" : "Phyllodes tumor of the breast"
},
{
"code" : "199244",
"display" : "Nelson syndrome"
},
{
"code" : "199247",
"display" : "Corticosteroid-binding globulin deficiency"
},
{
"code" : "199279",
"display" : "Familial angiolipomatosis"
},
{
"code" : "199285",
"display" : "Hereditary hypercarotenemia and vitamin A deficiency"
},
{
"code" : "199354",
"display" : "Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy"
},
{
"code" : "199642",
"display" : "Isolated congenital microcephaly"
},
{
"code" : "206546",
"display" : "Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers"
},
{
"code" : "206549",
"display" : "Anoctamin-5-related limb-girdle muscular dystrophy R12"
},
{
"code" : "208441",
"display" : "Bilateral parasagittal parieto-occipital polymicrogyria"
},
{
"code" : "209370",
"display" : "Severe neonatal-onset encephalopathy with microcephaly"
},
{
"code" : "209951",
"display" : "Autosomal spastic paraplegia type 18"
},
{
"code" : "210272",
"display" : "Mal de débarquement"
},
{
"code" : "213512",
"display" : "Malignant mixed Müllerian tumor of the ovary"
},
{
"code" : "213531",
"display" : "Metaplastic carcinoma of the breast"
},
{
"code" : "213600",
"display" : "Adenosarcoma of the corpus uteri"
},
{
"code" : "213772",
"display" : "Adenocarcinoma of the cervix uteri"
},
{
"code" : "216718",
"display" : "Isolated congenitally uncorrected transposition of the great arteries"
},
{
"code" : "217055",
"display" : "Autosomal recessive intermediate Charcot-Marie-Tooth disease type A"
},
{
"code" : "217080",
"display" : "Pulmonary fungal infections in patients deemed at risk"
},
{
"code" : "217340",
"display" : "17q21.31 microduplication syndrome"
},
{
"code" : "217377",
"display" : "Microduplication Xp11.22p11.23 syndrome"
},
{
"code" : "220402",
"display" : "Limited cutaneous systemic sclerosis"
},
{
"code" : "220460",
"display" : "Attenuated familial adenomatous polyposis"
},
{
"code" : "221061",
"display" : "Familial cerebral cavernous malformation"
},
{
"code" : "221074",
"display" : "Marchiafava-Bignami disease"
},
{
"code" : "227535",
"display" : "Hereditary breast cancer"
},
{
"code" : "228012",
"display" : "Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome"
},
{
"code" : "228174",
"display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2N"
},
{
"code" : "228240",
"display" : "Elastoderma"
},
{
"code" : "228349",
"display" : "CLN2 disease"
},
{
"code" : "228354",
"display" : "CLN8 disease"
},
{
"code" : "228379",
"display" : "Virus-associated trichodysplasia spinulosa"
},
{
"code" : "231120",
"display" : "Beckwith-Wiedemann syndrome due to CDKN1C mutation"
},
{
"code" : "231127",
"display" : "Beckwith-Wiedemann syndrome due to 11p15 microdeletion"
},
{
"code" : "231140",
"display" : "Silver-Russell syndrome due to an imprinting defect of 11p15"
},
{
"code" : "231169",
"display" : "Usher syndrome type 1"
},
{
"code" : "231450",
"display" : "Acute pure sensory neuropathy"
},
{
"code" : "231625",
"display" : "Adrenocortical carcinoma with pure aldosterone hypersecretion"
},
{
"code" : "238305",
"display" : "Infundibulo-neurohypophysitis"
},
{
"code" : "238557",
"display" : "Chuvash erythrocytosis"
},
{
"code" : "238606",
"display" : "Primary orthostatic tremor"
},
{
"code" : "238637",
"display" : "Megacystis-megaureter syndrome"
},
{
"code" : "244305",
"display" : "Dominant hypophosphatemia with nephrolithiasis or osteoporosis"
},
{
"code" : "247522",
"display" : "Primary ciliary dyskinesia-retinitis pigmentosa syndrome"
},
{
"code" : "247709",
"display" : "Multiple endocrine neoplasia type 2B"
},
{
"code" : "248111",
"display" : "Juvenile Huntington disease"
},
{
"code" : "251004",
"display" : "Paternal uniparental disomy of chromosome 1"
},
{
"code" : "251046",
"display" : "6p22 microdeletion syndrome"
},
{
"code" : "251076",
"display" : "8p23.1 duplication syndrome"
},
{
"code" : "251274",
"display" : "Familial hyperaldosteronism type III"
},
{
"code" : "251279",
"display" : "Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome"
},
{
"code" : "251307",
"display" : "Idiopathic recurrent pericarditis"
},
{
"code" : "251375",
"display" : "Sickle cell-hemoglobin E disease syndrome"
},
{
"code" : "251515",
"display" : "Distal arthrogryposis type 10"
},
{
"code" : "251612",
"display" : "Pilocytic astrocytoma"
},
{
"code" : "251883",
"display" : "Medulloepithelioma of the central nervous system"
},
{
"code" : "251946",
"display" : "Dysembryoplastic neuroepithelial tumor"
},
{
"code" : "251957",
"display" : "Anaplastic ganglioglioma"
},
{
"code" : "252054",
"display" : "Hemangioblastoma"
},
{
"code" : "254902",
"display" : "Renal tubulopathy-encephalopathy-liver failure syndrome"
},
{
"code" : "261190",
"display" : "15q14 microdeletion syndrome"
},
{
"code" : "261222",
"display" : "Distal 16p11.2 microdeletion syndrome"
},
{
"code" : "261236",
"display" : "16p13.11 microdeletion syndrome"
},
{
"code" : "261304",
"display" : "Paternal 20q13.2q13.3 microdeletion syndrome"
},
{
"code" : "261344",
"display" : "Trisomy 1q"
},
{
"code" : "261652",
"display" : "Kleefstra syndrome due to a point mutation"
},
{
"code" : "263335",
"display" : "Moderately-differentiated thymic neuroendocrine carcinoma"
},
{
"code" : "263347",
"display" : "MRCS syndrome"
},
{
"code" : "263352",
"display" : "Postcardiotomy right ventricular failure"
},
{
"code" : "263410",
"display" : "Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome"
},
{
"code" : "263425",
"display" : "Nevus of Ota"
},
{
"code" : "263435",
"display" : "Congenital smooth muscle hamartoma"
},
{
"code" : "264450",
"display" : "Trisomy 8p"
},
{
"code" : "268261",
"display" : "DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion"
},
{
"code" : "268810",
"display" : "Isolated posterior meningocele"
},
{
"code" : "268823",
"display" : "Occipital encephalocele"
},
{
"code" : "268868",
"display" : "Isolated amyelia"
},
{
"code" : "269505",
"display" : "Congenital communicating hydrocephalus"
},
{
"code" : "275517",
"display" : "Autoimmune lymphoproliferative syndrome with recurrent viral infections"
},
{
"code" : "275864",
"display" : "Behavioral variant of frontotemporal dementia"
},
{
"code" : "276432",
"display" : "Ogden syndrome"
},
{
"code" : "276556",
"display" : "Hyperinsulinism due to UCP2 deficiency"
},
{
"code" : "276621",
"display" : "Sporadic pheochromocytoma/secreting paraganglioma"
},
{
"code" : "279943",
"display" : "Hereditary neutrophilia"
},
{
"code" : "279947",
"display" : "Postorgasmic illness syndrome"
},
{
"code" : "280062",
"display" : "Calciphylaxis"
},
{
"code" : "280065",
"display" : "Calciphylaxis cutis"
},
{
"code" : "280142",
"display" : "Severe combined immunodeficiency due to LCK deficiency"
},
{
"code" : "280270",
"display" : "Pelizaeus-Merzbacher-like disease"
},
{
"code" : "280293",
"display" : "Pelizaeus-Merzbacher-like disease due to AIMP1 mutation"
},
{
"code" : "281090",
"display" : "Syndromic recessive X-linked ichthyosis"
},
{
"code" : "281139",
"display" : "Annular epidermolytic ichthyosis"
},
{
"code" : "282166",
"display" : "Inherited Creutzfeldt-Jakob disease"
},
{
"code" : "284414",
"display" : "Glycerol kinase deficiency, adult form"
},
{
"code" : "289157",
"display" : "Hypocalcemic vitamin D-dependent rickets"
},
{
"code" : "289390",
"display" : "Primary Sjögren syndrome"
},
{
"code" : "289522",
"display" : "Microtriplication 11q24.1"
},
{
"code" : "289553",
"display" : "Dysmorphism-conductive hearing loss-heart defect syndrome"
},
{
"code" : "289601",
"display" : "Hereditary arterial and articular multiple calcification syndrome"
},
{
"code" : "289682",
"display" : "Lymphoepithelial-like carcinoma"
},
{
"code" : "289685",
"display" : "Myopericytoma"
},
{
"code" : "293967",
"display" : "Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome"
},
{
"code" : "293978",
"display" : "Deficiency in anterior pituitary function-variable immunodeficiency syndrome"
},
{
"code" : "294979",
"display" : "Congenital absence of both forearm and hand"
},
{
"code" : "295012",
"display" : "Syndactyly type 6"
},
{
"code" : "295030",
"display" : "True congenital shoulder dislocation"
},
{
"code" : "295049",
"display" : "Upper limb hypertrophy"
},
{
"code" : "295193",
"display" : "Zygodactyly type 4"
},
{
"code" : "295201",
"display" : "Congenital vertical talus, unilateral"
},
{
"code" : "295213",
"display" : "Humero-ulnar synostosis, unilateral"
},
{
"code" : "300179",
"display" : "Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency"
},
{
"code" : "300333",
"display" : "Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome"
},
{
"code" : "300493",
"display" : "Sagliker syndrome"
},
{
"code" : "300512",
"display" : "Onychomatricoma"
},
{
"code" : "300530",
"display" : "Pseudohypoaldosteronism type 2E"
},
{
"code" : "300869",
"display" : "Splenic diffuse red pulp small B-cell lymphoma"
},
{
"code" : "306617",
"display" : "X-linked complicated spastic paraplegia type 1"
},
{
"code" : "306658",
"display" : "Familial normophosphatemic tumoral calcinosis"
},
{
"code" : "306731",
"display" : "Sydenham chorea"
},
{
"code" : "308400",
"display" : "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C"
},
{
"code" : "308552",
"display" : "Glycogen storage disease due to acid maltase deficiency, infantile onset"
},
{
"code" : "309015",
"display" : "Familial lipoprotein lipase deficiency"
},
{
"code" : "309162",
"display" : "Sandhoff disease, juvenile form"
},
{
"code" : "309169",
"display" : "Sandhoff disease, adult form"
},
{
"code" : "309185",
"display" : "Tay-Sachs disease, B variant, juvenile form"
},
{
"code" : "309256",
"display" : "Metachromatic leukodystrophy, late infantile form"
},
{
"code" : "309334",
"display" : "Salla disease"
},
{
"code" : "313781",
"display" : "20p13 microdeletion syndrome"
},
{
"code" : "314419",
"display" : "Ameloblastoma"
},
{
"code" : "314555",
"display" : "Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome"
},
{
"code" : "314572",
"display" : "Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome"
},
{
"code" : "314629",
"display" : "CLN11 disease"
},
{
"code" : "314679",
"display" : "Cerebrofacioarticular syndrome"
},
{
"code" : "314802",
"display" : "Short stature due to partial GHR deficiency"
},
{
"code" : "317425",
"display" : "Severe combined immunodeficiency due to DNA-PKcs deficiency"
},
{
"code" : "319182",
"display" : "Wiedemann-Steiner syndrome"
},
{
"code" : "319239",
"display" : "Brazilian hemorrhagic fever"
},
{
"code" : "319319",
"display" : "Renal medullary carcinoma"
},
{
"code" : "319340",
"display" : "Carney complex-trismus-pseudocamptodactyly syndrome"
},
{
"code" : "319462",
"display" : "Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations"
},
{
"code" : "319524",
"display" : "Combined oxidative phosphorylation defect type 15"
},
{
"code" : "319558",
"display" : "Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency"
},
{
"code" : "319605",
"display" : "X-linked mendelian susceptibility to mycobacterial diseases"
},
{
"code" : "319667",
"display" : "Primary lymphoma of the conjunctiva"
},
{
"code" : "320380",
"display" : "Autosomal recessive spastic paraplegia type 54"
},
{
"code" : "324290",
"display" : "Early-onset Lafora body disease"
},
{
"code" : "324353",
"display" : "Congenital achiasma"
},
{
"code" : "324588",
"display" : "Familial dyskinesia and facial myokymia"
},
{
"code" : "324648",
"display" : "Invasive non-typhoidal salmonellosis"
},
{
"code" : "324977",
"display" : "Proteasome-associated autoinflammatory syndrome"
},
{
"code" : "325124",
"display" : "Testicular agenesis"
},
{
"code" : "329173",
"display" : "Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis"
},
{
"code" : "329235",
"display" : "X-linked central congenital hypothyroidism with late-onset testicular enlargement"
},
{
"code" : "329308",
"display" : "Fatty acid hydroxylase-associated neurodegeneration"
},
{
"code" : "329332",
"display" : "Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome"
},
{
"code" : "329469",
"display" : "Acute megakaryoblastic leukemia without Down syndrome"
},
{
"code" : "329874",
"display" : "Idiopathic giant cell myocarditis"
},
{
"code" : "329883",
"display" : "Non-hypoproteinemic hypertrophic gastropathy"
},
{
"code" : "329903",
"display" : "Immunoglobulin-mediated membranoproliferative glomerulonephritis"
},
{
"code" : "330015",
"display" : "Lead poisoning"
},
{
"code" : "330032",
"display" : "Hemoglobin Lepore-beta-thalassemia syndrome"
},
{
"code" : "331187",
"display" : "Immunodeficiency due to MASP-2 deficiency"
},
{
"code" : "352328",
"display" : "MEGDEL syndrome"
},
{
"code" : "352540",
"display" : "Oncogenic osteomalacia"
},
{
"code" : "352641",
"display" : "Autosomal recessive cerebellar ataxia with late-onset spasticity"
},
{
"code" : "352657",
"display" : "Hereditary benign intraepithelial dyskeratosis"
},
{
"code" : "352670",
"display" : "Autosomal dominant intermediate Charcot-Marie-Tooth disease type F"
},
{
"code" : "352718",
"display" : "Progressive retinal dystrophy due to retinol transport defect"
},
{
"code" : "352745",
"display" : "Oculocutaneous albinism type 7"
},
{
"code" : "353356",
"display" : "Vasoproliferative tumor of the retina"
},
{
"code" : "357064",
"display" : "Autosomal recessive cutis laxa type 2B"
},
{
"code" : "363396",
"display" : "High myopia-sensorineural deafness syndrome"
},
{
"code" : "363478",
"display" : "Paratesticular adenocarcinoma"
},
{
"code" : "363483",
"display" : "Testicular teratoma"
},
{
"code" : "363540",
"display" : "Leukoencephalopathy with mild cerebellar ataxia and white matter edema"
},
{
"code" : "363549",
"display" : "Acute encephalopathy with biphasic seizures and late reduced diffusion"
},
{
"code" : "363649",
"display" : "Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome"
},
{
"code" : "363680",
"display" : "2p13.2 microdeletion syndrome"
},
{
"code" : "363686",
"display" : "Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome"
},
{
"code" : "363727",
"display" : "X-linked dyserythropoietic anemia with abnormal platelets and neutropenia"
},
{
"code" : "363972",
"display" : "Noonan syndrome-like disorder with juvenile myelomonocytic leukemia"
},
{
"code" : "364028",
"display" : "X-linked intellectual disability due to GRIA3 mutations"
},
{
"code" : "364039",
"display" : "Hydroa vacciniforme-like lymphoma"
},
{
"code" : "369942",
"display" : "CADDS"
},
{
"code" : "370015",
"display" : "Spondyloepimetaphyseal dysplasia, Isidor-Toutain type"
},
{
"code" : "370091",
"display" : "Oculocutaneous albinism type 5"
},
{
"code" : "370097",
"display" : "Oculocutaneous albinism type 6"
},
{
"code" : "370396",
"display" : "Small cell carcinoma of the ovary"
},
{
"code" : "370924",
"display" : "STT3B-CDG"
},
{
"code" : "391307",
"display" : "Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome"
},
{
"code" : "391428",
"display" : "HSD10 disease, infantile type"
},
{
"code" : "397590",
"display" : "Silver-Russell syndrome due to a point mutation"
},
{
"code" : "397596",
"display" : "Activated PI3K-delta syndrome"
},
{
"code" : "397612",
"display" : "Macrocephaly-developmental delay syndrome"
},
{
"code" : "397750",
"display" : "Periodic paralysis with later-onset distal motor neuropathy"
},
{
"code" : "398961",
"display" : "Mucinous adenocarcinoma of ovary"
},
{
"code" : "399058",
"display" : "Alpha-B crystallin-related late-onset myopathy"
},
{
"code" : "401777",
"display" : "Optic atrophy-intellectual disability syndrome"
},
{
"code" : "401795",
"display" : "Autosomal recessive spastic paraplegia type 59"
},
{
"code" : "401935",
"display" : "14q24.1q24.3 microdeletion syndrome"
},
{
"code" : "401959",
"display" : "Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome"
},
{
"code" : "402041",
"display" : "Autosomal recessive distal renal tubular acidosis"
},
{
"code" : "404451",
"display" : "FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome"
},
{
"code" : "404499",
"display" : "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency"
},
{
"code" : "411493",
"display" : "Pontocerebellar hypoplasia type 10"
},
{
"code" : "412035",
"display" : "13q12.3 microdeletion syndrome"
},
{
"code" : "412066",
"display" : "PRKAR1B-related neurodegenerative dementia with intermediate filaments"
},
{
"code" : "420699",
"display" : "Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency"
},
{
"code" : "424016",
"display" : "Adenocarcinoma of the anal canal"
},
{
"code" : "424039",
"display" : "Squamous cell carcinoma of pancreas"
},
{
"code" : "424975",
"display" : "Squamous cell carcinoma of liver and intrahepatic biliary tract"
},
{
"code" : "424982",
"display" : "Biliary cystadenocarcinoma"
},
{
"code" : "431140",
"display" : "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome"
},
{
"code" : "431272",
"display" : "X-linked scapuloperoneal muscular dystrophy"
},
{
"code" : "431361",
"display" : "Progressive encephalopathy with leukodystrophy due to DECR deficiency"
},
{
"code" : "435953",
"display" : "Progeroid features-hepatocellular carcinoma predisposition syndrome"
},
{
"code" : "435988",
"display" : "Chronic atrial and intestinal dysrhythmia syndrome"
},
{
"code" : "436182",
"display" : "Microcephalic primordial dwarfism-insulin resistance syndrome"
},
{
"code" : "436252",
"display" : "Combined immunodeficiency-enteropathy spectrum"
},
{
"code" : "438114",
"display" : "RARS-related autosomal recessive hypomyelinating leukodystrophy"
},
{
"code" : "438178",
"display" : "Fatty acyl-CoA reductase 1 deficiency"
},
{
"code" : "439737",
"display" : "Primary polyarteritis nodosa"
},
{
"code" : "439746",
"display" : "Secondary polyarteritis nodosa"
},
{
"code" : "439854",
"display" : "Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease"
},
{
"code" : "440368",
"display" : "Necrotizing soft tissue infection"
},
{
"code" : "440402",
"display" : "Interstitial lung disease due to ABCA3 deficiency"
},
{
"code" : "440706",
"display" : "Ribose-5-P isomerase deficiency"
},
{
"code" : "443167",
"display" : "NUT midline carcinoma"
},
{
"code" : "443173",
"display" : "Postpartum psychosis"
},
{
"code" : "443180",
"display" : "Spontaneous intracranial hypotension"
},
{
"code" : "443988",
"display" : "Ventriculomegaly-cystic kidney disease"
},
{
"code" : "447764",
"display" : "IgG4-related sclerosing cholangitis"
},
{
"code" : "447777",
"display" : "Keratocystic odontogenic tumor"
},
{
"code" : "447795",
"display" : "Lipoyl transferase 2 deficiency"
},
{
"code" : "447997",
"display" : "Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome"
},
{
"code" : "448237",
"display" : "Zika virus disease"
},
{
"code" : "449395",
"display" : "IgG4-related kidney disease"
},
{
"code" : "449563",
"display" : "IgG4-related ophthalmic disease"
},
{
"code" : "451602",
"display" : "Primary cutaneous plasmacytosis"
},
{
"code" : "453521",
"display" : "Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency"
},
{
"code" : "15",
"display" : "Achondroplasia"
},
{
"code" : "16",
"display" : "Blue cone monochromatism"
},
{
"code" : "23",
"display" : "Argininosuccinic aciduria"
},
{
"code" : "27",
"display" : "Vitamin B12-unresponsive methylmalonic acidemia"
},
{
"code" : "33",
"display" : "Isovaleric acidemia"
},
{
"code" : "48",
"display" : "Congenital bilateral absence of vas deferens"
},
{
"code" : "58",
"display" : "Alexander disease"
},
{
"code" : "65",
"display" : "Leber congenital amaurosis"
},
{
"code" : "73",
"display" : "Gorham-Stout disease"
},
{
"code" : "78",
"display" : "Ankylostomiasis"
},
{
"code" : "97",
"display" : "Familial paroxysmal ataxia"
},
{
"code" : "102",
"display" : "Multiple system atrophy"
},
{
"code" : "112",
"display" : "Bartter syndrome"
},
{
"code" : "118",
"display" : "Beta-mannosidosis"
},
{
"code" : "129",
"display" : "Pseudopelade of Brocq"
},
{
"code" : "131",
"display" : "Budd-Chiari syndrome"
},
{
"code" : "132",
"display" : "Butyrylcholinesterase deficiency"
},
{
"code" : "141",
"display" : "Canavan disease"
},
{
"code" : "457205",
"display" : "Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome"
},
{
"code" : "457279",
"display" : "Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome"
},
{
"code" : "464311",
"display" : "Intellectual disability syndrome due to a DYRK1A point mutation"
},
{
"code" : "464343",
"display" : "Catastrophic antiphospholipid syndrome"
},
{
"code" : "465508",
"display" : "Symptomatic form of HFE-related hemochromatosis"
},
{
"code" : "466703",
"display" : "TMEM199-CDG"
},
{
"code" : "466718",
"display" : "Martinique crinkled retinal pigment epitheliopathy"
},
{
"code" : "466722",
"display" : "Autosomal recessive spastic paraplegia type 77"
},
{
"code" : "466729",
"display" : "Familial patent arterial duct"
},
{
"code" : "466768",
"display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2Z"
},
{
"code" : "466794",
"display" : "Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome"
},
{
"code" : "466921",
"display" : "Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome"
},
{
"code" : "466950",
"display" : "Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation"
},
{
"code" : "467166",
"display" : "Tubulinopathy-associated dysgyria"
},
{
"code" : "468620",
"display" : "Intellectual disability-epilepsy-extrapyramidal syndrome"
},
{
"code" : "468672",
"display" : "Colobomatous macrophthalmia-microcornea syndrome"
},
{
"code" : "477814",
"display" : "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome"
},
{
"code" : "477817",
"display" : "PMP22-RAI1 contiguous gene duplication syndrome"
},
{
"code" : "480506",
"display" : "Primary intrahepatic lithiasis"
},
{
"code" : "480520",
"display" : "Caroli syndrome"
},
{
"code" : "482606",
"display" : "X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome"
},
{
"code" : "485421",
"display" : "MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect"
},
{
"code" : "488191",
"display" : "Female infertility due to oocyte meiotic arrest"
},
{
"code" : "488333",
"display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2W"
},
{
"code" : "494424",
"display" : "Extracranial carotid artery aneurysm"
},
{
"code" : "494428",
"display" : "Idiopathic pleuroparenchymal fibroelastosis"
},
{
"code" : "494433",
"display" : "MIRAGE syndrome"
},
{
"code" : "494547",
"display" : "Squamous cell carcinoma of the hypopharynx"
},
{
"code" : "498494",
"display" : "Mirror-image polydactyly"
},
{
"code" : "498693",
"display" : "MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome"
},
{
"code" : "499182",
"display" : "Pilomatrix carcinoma"
},
{
"code" : "500055",
"display" : "Hao-Fountain syndrome due to 16p13.2 microdeletion"
},
{
"code" : "500180",
"display" : "Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder"
},
{
"code" : "502363",
"display" : "Squamous cell carcinoma of the oral cavity"
},
{
"code" : "502499",
"display" : "Erythema multiforme major"
},
{
"code" : "504476",
"display" : "Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome"
},
{
"code" : "508512",
"display" : "Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome"
},
{
"code" : "521414",
"display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2DD"
},
{
"code" : "521445",
"display" : "Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome"
},
{
"code" : "529852",
"display" : "Combined hepatocellular carcinoma and cholangiocarcinoma"
},
{
"code" : "529864",
"display" : "Secondary erythromelalgia"
},
{
"code" : "535458",
"display" : "Familial GPIHBP1 deficiency"
},
{
"code" : "538101",
"display" : "Congenital axonal neuropathy with encephalopathy"
},
{
"code" : "538958",
"display" : "Combined immunodeficiency due to CD70 deficiency"
},
{
"code" : "542306",
"display" : "GNB5-related intellectual disability-cardiac arrhythmia syndrome"
},
{
"code" : "542568",
"display" : "Quadricuspid aortic valve"
},
{
"code" : "555434",
"display" : "Fibrohistiocytic inflammatory pseudotumor of the liver"
},
{
"code" : "556985",
"display" : "Early-onset calcifying leukoencephalopathy-skeletal dysplasia"
},
{
"code" : "563576",
"display" : "Autoimmune hepatitis type 1"
},
{
"code" : "563581",
"display" : "Autoimmune hepatitis type 2"
},
{
"code" : "563951",
"display" : "Isolated congenital aglossia"
},
{
"code" : "563954",
"display" : "Isolated congenital hypoglossia"
},
{
"code" : "147",
"display" : "Carbamoyl-phosphate synthetase 1 deficiency"
},
{
"code" : "184",
"display" : "Cherubism"
},
{
"code" : "190",
"display" : "Coats disease"
},
{
"code" : "200",
"display" : "Isolated corpus callosum agenesis"
},
{
"code" : "213",
"display" : "Cystinosis"
},
{
"code" : "268",
"display" : "Dysferlin-related limb-girdle muscular dystrophy R2"
},
{
"code" : "273",
"display" : "Steinert myotonic dystrophy"
},
{
"code" : "275",
"display" : "Severe combined immunodeficiency due to DCLRE1C deficiency"
},
{
"code" : "281",
"display" : "Monosomy 5p"
},
{
"code" : "285",
"display" : "Hypermobile Ehlers-Danlos syndrome"
},
{
"code" : "289",
"display" : "Ellis Van Creveld syndrome"
},
{
"code" : "290",
"display" : "Congenital rubella syndrome"
},
{
"code" : "294",
"display" : "Fetal cytomegalovirus syndrome"
},
{
"code" : "300",
"display" : "Bifunctional enzyme deficiency"
},
{
"code" : "307",
"display" : "Juvenile myoclonic epilepsy"
},
{
"code" : "315",
"display" : "Erythrokeratoderma ''en cocardes''"
},
{
"code" : "326",
"display" : "Congenital factor V deficiency"
},
{
"code" : "327",
"display" : "Congenital factor VII deficiency"
},
{
"code" : "328",
"display" : "Congenital factor X deficiency"
},
{
"code" : "353",
"display" : "Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5"
},
{
"code" : "384",
"display" : "Huriez syndrome"
},
{
"code" : "389",
"display" : "Langerhans cell histiocytosis"
},
{
"code" : "394",
"display" : "Classic homocystinuria"
},
{
"code" : "399",
"display" : "Huntington disease"
},
{
"code" : "412",
"display" : "Dysbetalipoproteinemia"
},
{
"code" : "419",
"display" : "Hyperprolinemia type 1"
},
{
"code" : "455",
"display" : "Superficial epidermolytic ichthyosis"
},
{
"code" : "482",
"display" : "Kimura disease"
},
{
"code" : "487",
"display" : "Krabbe disease"
},
{
"code" : "492",
"display" : "Proliferating trichilemmal cyst"
},
{
"code" : "500",
"display" : "Noonan syndrome with multiple lentigines"
},
{
"code" : "505",
"display" : "Graham Little-Piccardi-Lassueur syndrome"
},
{
"code" : "511",
"display" : "Maple syrup urine disease"
},
{
"code" : "517",
"display" : "Acute myelomonocytic leukemia"
},
{
"code" : "533",
"display" : "Listeriosis"
},
{
"code" : "550",
"display" : "MELAS"
},
{
"code" : "559",
"display" : "Marinesco-Sjögren syndrome"
},
{
"code" : "570",
"display" : "Moebius syndrome"
},
{
"code" : "574",
"display" : "21q deletion syndrome"
},
{
"code" : "584",
"display" : "Mucopolysaccharidosis type 7"
},
{
"code" : "606",
"display" : "Proximal myotonic myopathy"
},
{
"code" : "614",
"display" : "Thomsen and Becker disease"
},
{
"code" : "615",
"display" : "Familial atrial myxoma"
},
{
"code" : "624",
"display" : "Familial multiple nevi flammei"
},
{
"code" : "634",
"display" : "Netherton syndrome"
},
{
"code" : "635",
"display" : "Neuroblastoma"
},
{
"code" : "636",
"display" : "Neurofibromatosis type 1"
},
{
"code" : "638",
"display" : "Neurofibromatosis-Noonan syndrome"
},
{
"code" : "646",
"display" : "Niemann-Pick disease type C"
},
{
"code" : "712",
"display" : "Hemolytic anemia due to glucophosphate isomerase deficiency"
},
{
"code" : "713",
"display" : "Glycogen storage disease due to phosphoglycerate kinase 1 deficiency"
},
{
"code" : "718",
"display" : "Isolated Pierre Robin syndrome"
},
{
"code" : "720",
"display" : "Pili bifurcati"
},
{
"code" : "772",
"display" : "Infantile Refsum disease"
},
{
"code" : "564178",
"display" : "Primary hypomagnesemia-refractory seizures-intellectual disability syndrome"
},
{
"code" : "565612",
"display" : "Primary triglyceride deposit cardiomyovasculopathy"
},
{
"code" : "566175",
"display" : "Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome"
},
{
"code" : "566231",
"display" : "Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha"
},
{
"code" : "567548",
"display" : "Idiopathic steroid-resistant nephrotic syndrome"
},
{
"code" : "569248",
"display" : "Microcystic stromal tumor"
},
{
"code" : "569821",
"display" : "Congenital primary lymphedema of Gordon"
},
{
"code" : "570422",
"display" : "Galactose mutarotase deficiency"
},
{
"code" : "572354",
"display" : "Blepharophimosis-ptosis-epicanthus inversus syndrome type 1"
},
{
"code" : "576235",
"display" : "Partial atrioventricular septal defect without ventricular hypoplasia"
},
{
"code" : "576242",
"display" : "Intermediate atrioventricular septal defect"
},
{
"code" : "589435",
"display" : "Spondylometaphyseal dysplasia-corneal dystrophy syndrome"
},
{
"code" : "589534",
"display" : "Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)"
},
{
"code" : "589830",
"display" : "Adult-onset Steinert myotonic dystrophy"
},
{
"code" : "589905",
"display" : "PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome"
},
{
"code" : "590539",
"display" : "Isolated melanotic schwannoma"
},
{
"code" : "592850",
"display" : "Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies"
},
{
"code" : "592873",
"display" : "Acute transverse myelitis with anti-MOG antibodies"
},
{
"code" : "597746",
"display" : "Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome"
},
{
"code" : "598363",
"display" : "Multisystem inflammatory syndrome in children and adults"
},
{
"code" : "599513",
"display" : "Acquired factor XIII deficiency"
},
{
"code" : "599579",
"display" : "Factor V Amsterdam bleeding disorder"
},
{
"code" : "601023",
"display" : "Non-syndromic anorectal malformation with rectal stenosis"
},
{
"code" : "603448",
"display" : "Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome"
},
{
"code" : "603689",
"display" : "KLHL7-related Bohring-Opitz-like syndrome"
},
{
"code" : "617294",
"display" : "Twin anemia-polycythemia sequence"
},
{
"code" : "617297",
"display" : "Twin-reversed arterial perfusion sequence"
},
{
"code" : "620146",
"display" : "Non-syndromic unisquamosal craniosynostosis"
},
{
"code" : "620158",
"display" : "Non-syndromic non-specific multisutural craniosynostosis"
},
{
"code" : "620371",
"display" : "Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation"
},
{
"code" : "622099",
"display" : "Superior mesenteric artery syndrome"
},
{
"code" : "631073",
"display" : "Autosomal recessive spastic paraplegia type 82"
},
{
"code" : "631251",
"display" : "Cancer of unknown primary site"
},
{
"code" : "633211",
"display" : "Preaxial digit brachydactyly-webbed fingers"
},
{
"code" : "634511",
"display" : "Mosaic Legius syndrome"
},
{
"code" : "637061",
"display" : "Isolated optic nerve hypoplasia"
},
{
"code" : "642675",
"display" : "CHD8 overgrowth syndrome"
},
{
"code" : "642691",
"display" : "Fragile X-associated primary ovarian insufficiency"
},
{
"code" : "642954",
"display" : "Autosomal recessive ataxia due to PEX16 deficiency"
},
{
"code" : "643503",
"display" : "Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome"
},
{
"code" : "645340",
"display" : "Non-terminal myelocystocele"
},
{
"code" : "646136",
"display" : "Dysplastic cortical hyperostosis, Al-Gazali type"
},
{
"code" : "647681",
"display" : "Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome"
},
{
"code" : "647772",
"display" : "Isolated primary pigmented nodular adrenocortical disease"
},
{
"code" : "648581",
"display" : "Digenic hemochromatosis"
},
{
"code" : "649010",
"display" : "Non-syndromic congenital bronchial atresia"
},
{
"code" : "786",
"display" : "Generalized glucocorticoid resistance syndrome"
},
{
"code" : "790",
"display" : "Retinoblastoma"
},
{
"code" : "818",
"display" : "Smith-Lemli-Opitz syndrome"
},
{
"code" : "820",
"display" : "Sneddon syndrome"
},
{
"code" : "822",
"display" : "Hereditary spherocytosis"
},
{
"code" : "842",
"display" : "Testicular seminomatous germ cell tumor"
},
{
"code" : "845",
"display" : "Tay-Sachs disease"
},
{
"code" : "848",
"display" : "Beta-thalassemia"
},
{
"code" : "853",
"display" : "Fetal and neonatal alloimmune thrombocytopenia"
},
{
"code" : "859",
"display" : "Transcobalamin deficiency"
},
{
"code" : "864",
"display" : "Trichofolliculoma"
},
{
"code" : "879",
"display" : "Tungiasis"
},
{
"code" : "901",
"display" : "Wells syndrome"
},
{
"code" : "909",
"display" : "Cerebrotendinous xanthomatosis"
},
{
"code" : "915",
"display" : "Aarskog-Scott syndrome"
},
{
"code" : "972",
"display" : "Hereditary continuous muscle fiber activity"
},
{
"code" : "973",
"display" : "Congenital absence/hypoplasia of fingers excluding thumb, unilateral"
},
{
"code" : "989",
"display" : "Hypoglossia-hypodactyly syndrome"
},
{
"code" : "990",
"display" : "Agnathia-holoprosencephaly-situs inversus syndrome"
},
{
"code" : "1014",
"display" : "Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome"
},
{
"code" : "1071",
"display" : "Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome"
},
{
"code" : "1106",
"display" : "Microphthalmia with limb anomalies"
},
{
"code" : "1117",
"display" : "Aplasia cutis-myopia syndrome"
},
{
"code" : "1130",
"display" : "Arachnodactyly-intellectual disability-dysmorphism syndrome"
},
{
"code" : "1135",
"display" : "Arrhinia-choanal atresia-microphthalmia syndrome"
},
{
"code" : "1146",
"display" : "Distal arthrogryposis type 1"
},
{
"code" : "1147",
"display" : "Sheldon-Hall syndrome"
},
{
"code" : "1163",
"display" : "Aspergillosis"
},
{
"code" : "1166",
"display" : "Congenital unilateral hypoplasia of depressor anguli oris"
},
{
"code" : "1173",
"display" : "Cerebellar ataxia-hypogonadism syndrome"
},
{
"code" : "1188",
"display" : "Ataxia-deafness-intellectual disability syndrome"
},
{
"code" : "1193",
"display" : "Atkin-Flaitz syndrome"
},
{
"code" : "1207",
"display" : "Pulmonary atresia with ventricular septal defect"
},
{
"code" : "1216",
"display" : "Autosomal dominant congenital benign spinal muscular atrophy"
},
{
"code" : "1240",
"display" : "Metaphyseal acroscyphodysplasia"
},
{
"code" : "1253",
"display" : "Ascher syndrome"
},
{
"code" : "1272",
"display" : "Aymé-Gripp syndrome"
},
{
"code" : "1297",
"display" : "Branchio-oculo-facial syndrome"
},
{
"code" : "1308",
"display" : "C syndrome"
},
{
"code" : "1320",
"display" : "Idiopathic camptocormia"
},
{
"code" : "1332",
"display" : "Medullary thyroid carcinoma"
},
{
"code" : "1358",
"display" : "Carey-Fineman-Ziter syndrome"
},
{
"code" : "1368",
"display" : "Cataract-ataxia-deafness syndrome"
},
{
"code" : "1375",
"display" : "Cataract-hypertrichosis-intellectual disability syndrome"
},
{
"code" : "1414",
"display" : "Cholestasis-lymphedema syndrome"
},
{
"code" : "1425",
"display" : "Desbuquois syndrome"
},
{
"code" : "1433",
"display" : "Choroidal atrophy-alopecia syndrome"
},
{
"code" : "1436",
"display" : "X-linked skeletal dysplasia-intellectual disability syndrome"
},
{
"code" : "1439",
"display" : "Ring chromosome 12 syndrome"
},
{
"code" : "1458",
"display" : "CODAS syndrome"
},
{
"code" : "1471",
"display" : "Coloboma of macula-brachydactyly type B syndrome"
},
{
"code" : "1496",
"display" : "Corpus callosum agenesis-neuronopathy syndrome"
},
{
"code" : "1506",
"display" : "Thin ribs-tubular bones-dysmorphism syndrome"
},
{
"code" : "1517",
"display" : "Cantú syndrome"
},
{
"code" : "1551",
"display" : "Familial benign copper deficiency"
},
{
"code" : "1562",
"display" : "Dacryocystitis-osteopoikilosis syndrome"
},
{
"code" : "1570",
"display" : "Symbrachydactyly of hands and feet"
},
{
"code" : "1581",
"display" : "Non-distal deletion 10q"
},
{
"code" : "1587",
"display" : "Monosomy 13q14"
},
{
"code" : "1606",
"display" : "1p36 deletion syndrome"
},
{
"code" : "1657",
"display" : "Dermatoosteolysis, Kirghizian type"
},
{
"code" : "1679",
"display" : "Diphtheria"
},
{
"code" : "1742",
"display" : "Trisomy 5p"
},
{
"code" : "1759",
"display" : "Thoraco-abdominal enteric duplication"
},
{
"code" : "1780",
"display" : "Thakker-Donnai syndrome"
},
{
"code" : "1782",
"display" : "Dysosteosclerosis"
},
{
"code" : "1790",
"display" : "Hypomandibular faciocranial dysostosis"
},
{
"code" : "1809",
"display" : "Hidrotic ectodermal dysplasia, Halal type"
},
{
"code" : "1825",
"display" : "Epiphyseal dysplasia-hearing loss-dysmorphism syndrome"
},
{
"code" : "1827",
"display" : "Acromelic frontonasal dysplasia"
},
{
"code" : "1830",
"display" : "Schimke immuno-osseous dysplasia"
},
{
"code" : "1865",
"display" : "Dyssegmental dysplasia, Silverman-Handmaker type"
},
{
"code" : "1872",
"display" : "Cone rod dystrophy"
},
{
"code" : "1878",
"display" : "TRIM32-related limb-girdle muscular dystrophy R8"
},
{
"code" : "1884",
"display" : "Ectopia lentis-chorioretinal dystrophy-myopia syndrome"
},
{
"code" : "1892",
"display" : "Ectrodactyly-polydactyly syndrome"
},
{
"code" : "1899",
"display" : "Arthrochalasia Ehlers-Danlos syndrome"
},
{
"code" : "1915",
"display" : "Fetal alcohol syndrome"
},
{
"code" : "1929",
"display" : "Rasmussen subacute encephalitis"
},
{
"code" : "1949",
"display" : "Benign familial neonatal epilepsy"
},
{
"code" : "1954",
"display" : "Congenital lethal erythroderma"
},
{
"code" : "1957",
"display" : "Esthesioneuroblastoma"
},
{
"code" : "1970",
"display" : "Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome"
},
{
"code" : "1973",
"display" : "Faciocardiorenal syndrome"
},
{
"code" : "1980",
"display" : "Bilateral striopallidodentate calcinosis"
},
{
"code" : "1987",
"display" : "Femoral agenesis/hypoplasia"
},
{
"code" : "1995",
"display" : "Cleft lip-retinopathy syndrome"
},
{
"code" : "2028",
"display" : "Juvenile hyaline fibromatosis"
},
{
"code" : "2032",
"display" : "Idiopathic pulmonary fibrosis"
},
{
"code" : "2041",
"display" : "Coronary arterial fistula"
},
{
"code" : "2050",
"display" : "Cole-Carpenter syndrome"
},
{
"code" : "2074",
"display" : "Gemignani syndrome"
},
{
"code" : "2111",
"display" : "Cystic hamartoma of lung and kidney"
},
{
"code" : "2117",
"display" : "Hartsfield syndrome"
},
{
"code" : "2123",
"display" : "Diffuse neonatal hemangiomatosis"
},
{
"code" : "2132",
"display" : "Hemoglobin C disease"
},
{
"code" : "2136",
"display" : "Hennekam syndrome"
},
{
"code" : "2157",
"display" : "Histidinemia"
},
{
"code" : "2172",
"display" : "Microcephaly-glomerulonephritis-marfanoid habitus syndrome"
},
{
"code" : "2181",
"display" : "Hydrocephaly-tall stature-joint laxity syndrome"
},
{
"code" : "2198",
"display" : "Palmoplantar keratoderma-esophageal carcinoma syndrome"
},
{
"code" : "2228",
"display" : "Hypodontia-dysplasia of nails syndrome"
},
{
"code" : "2234",
"display" : "Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome"
},
{
"code" : "2235",
"display" : "Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome"
},
{
"code" : "2273",
"display" : "Ichthyosis follicularis-alopecia-photophobia syndrome"
},
{
"code" : "2285",
"display" : "Primary basilar invagination"
},
{
"code" : "2290",
"display" : "Microvillus inclusion disease"
},
{
"code" : "2298",
"display" : "Insulin-resistance syndrome type B"
},
{
"code" : "2306",
"display" : "Isotretinoin-like syndrome"
},
{
"code" : "2307",
"display" : "IVIC syndrome"
},
{
"code" : "2308",
"display" : "Jacobsen syndrome"
},
{
"code" : "2312",
"display" : "Transient familial neonatal hyperbilirubinemia"
},
{
"code" : "2321",
"display" : "Jung syndrome"
},
{
"code" : "2331",
"display" : "Kawasaki disease"
},
{
"code" : "2347",
"display" : "Lethal Kniest-like dysplasia"
},
{
"code" : "2379",
"display" : "Early-onset parkinsonism-intellectual disability syndrome"
},
{
"code" : "2414",
"display" : "Congenital pulmonary lymphangiectasia"
},
{
"code" : "2438",
"display" : "Hand-foot-genital syndrome"
},
{
"code" : "2466",
"display" : "MASA syndrome"
},
{
"code" : "2485",
"display" : "Melorheostosis"
},
{
"code" : "2492",
"display" : "FATCO syndrome"
},
{
"code" : "2500",
"display" : "Acrogeria"
},
{
"code" : "2502",
"display" : "Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome"
},
{
"code" : "2518",
"display" : "Autosomal recessive chorioretinopathy-microcephaly syndrome"
},
{
"code" : "2523",
"display" : "Microcephaly-brain defect-spasticity-hypernatremia syndrome"
},
{
"code" : "2524",
"display" : "Pontocerebellar hypoplasia type 2"
},
{
"code" : "2536",
"display" : "Microcornea-glaucoma-absent frontal sinuses syndrome"
},
{
"code" : "2551",
"display" : "Microspherophakia-metaphyseal dysplasia syndrome"
},
{
"code" : "2552",
"display" : "Microsporidiosis"
},
{
"code" : "2560",
"display" : "Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome"
},
{
"code" : "2582",
"display" : "Myalgia-eosinophilia syndrome associated with tryptophan"
},
{
"code" : "2612",
"display" : "Linear nevus sebaceus syndrome"
},
{
"code" : "2619",
"display" : "Brachydactylous dwarfism, Mseleni type"
},
{
"code" : "2633",
"display" : "Mesomelic dysplasia, Nievergelt type"
},
{
"code" : "2639",
"display" : "Fibular aplasia-complex brachydactyly syndrome"
},
{
"code" : "2643",
"display" : "Microcephalic primordial dwarfism, Toriello type"
},
{
"code" : "2655",
"display" : "Thanatophoric dysplasia"
},
{
"code" : "2674",
"display" : "Cyprus facial-neuromusculoskeletal syndrome"
},
{
"code" : "2730",
"display" : "Postaxial tetramelic oligodactyly"
},
{
"code" : "2737",
"display" : "Onchocerciasis"
},
{
"code" : "2754",
"display" : "Orofaciodigital syndrome type 6"
},
{
"code" : "2763",
"display" : "Osteocraniostenosis"
},
{
"code" : "2773",
"display" : "Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome"
},
{
"code" : "2802",
"display" : "X-linked sideroblastic anemia and spinocerebellar ataxia"
},
{
"code" : "2806",
"display" : "Subacute sclerosing leukoencephalitis"
},
{
"code" : "2807",
"display" : "Papilloma of choroid plexus"
},
{
"code" : "2831",
"display" : "Rhizomelic dysplasia, Patterson-Lowry type"
},
{
"code" : "2833",
"display" : "Stiff skin syndrome"
},
{
"code" : "2835",
"display" : "Pectus excavatum-macrocephaly-dysplastic nails syndrome"
},
{
"code" : "2838",
"display" : "Renal caliceal diverticuli-deafness syndrome"
},
{
"code" : "2842",
"display" : "Penoscrotal transposition"
},
{
"code" : "2855",
"display" : "Perrault syndrome"
},
{
"code" : "2866",
"display" : "Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome"
},
{
"code" : "2928",
"display" : "Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome"
},
{
"code" : "2953",
"display" : "Musculocontractural Ehlers-Danlos syndrome"
},
{
"code" : "2968",
"display" : "Leukocyte adhesion deficiency"
},
{
"code" : "2976",
"display" : "Pseudoleprechaunism syndrome, Patterson type"
},
{
"code" : "3006",
"display" : "Pyridoxine-dependent epilepsy"
},
{
"code" : "3008",
"display" : "Pyruvate carboxylase deficiency"
},
{
"code" : "3018",
"display" : "Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome"
},
{
"code" : "3051",
"display" : "Nicolaides-Baraitser syndrome"
},
{
"code" : "3052",
"display" : "X-linked intellectual disability-seizures-psoriasis syndrome"
},
{
"code" : "3074",
"display" : "Intellectual disability-short stature-hypertelorism syndrome"
},
{
"code" : "3077",
"display" : "X-linked intellectual disability-psychosis-macroorchidism syndrome"
},
{
"code" : "3088",
"display" : "Revesz syndrome"
},
{
"code" : "3096",
"display" : "Reye syndrome"
},
{
"code" : "3103",
"display" : "Roberts syndrome"
},
{
"code" : "3134",
"display" : "SCARF syndrome"
},
{
"code" : "3148",
"display" : "Malignant peripheral nerve sheath tumor"
},
{
"code" : "3151",
"display" : "Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome"
},
{
"code" : "3164",
"display" : "Omphalocele syndrome, Shprintzen-Goldberg type"
},
{
"code" : "3180",
"display" : "Spondylocamptodactyly syndrome"
},
{
"code" : "3261",
"display" : "Autoimmune lymphoproliferative syndrome"
},
{
"code" : "3265",
"display" : "Humero-radial synostosis"
},
{
"code" : "3283",
"display" : "His bundle tachycardia"
},
{
"code" : "3299",
"display" : "Tetanus"
},
{
"code" : "3316",
"display" : "Thomas syndrome"
},
{
"code" : "3328",
"display" : "Absent tibia-polydactyly-arachnoid cyst syndrome"
},
{
"code" : "3355",
"display" : "Trichoodontoonychial dysplasia"
},
{
"code" : "3374",
"display" : "Unilateral ocular duplication"
},
{
"code" : "3402",
"display" : "Transient tyrosinemia of the newborn"
},
{
"code" : "3429",
"display" : "Verloove Vanhorick-Brubakk syndrome"
},
{
"code" : "3434",
"display" : "MMEP syndrome"
},
{
"code" : "3439",
"display" : "Von Voss-Cherstvoy syndrome"
},
{
"code" : "3454",
"display" : "Intellectual disability-developmental delay-contractures syndrome"
},
{
"code" : "3456",
"display" : "Wildervanck syndrome"
},
{
"code" : "3471",
"display" : "Young syndrome"
},
{
"code" : "26348",
"display" : "Acquired prothrombin deficiency"
},
{
"code" : "29073",
"display" : "Multiple myeloma"
},
{
"code" : "34149",
"display" : "Autosomal dominant tubulointerstitial kidney disease"
},
{
"code" : "34515",
"display" : "FKRP-related limb-girdle muscular dystrophy R9"
},
{
"code" : "34516",
"display" : "DNAJB6-related limb-girdle muscular dystrophy D1"
},
{
"code" : "35069",
"display" : "Infantile neuroaxonal dystrophy"
},
{
"code" : "35701",
"display" : "3-hydroxy-3-methylglutaryl-CoA synthase deficiency"
},
{
"code" : "36386",
"display" : "Hereditary sensory and autonomic neuropathy type 1"
},
{
"code" : "39044",
"display" : "Uveal melanoma"
},
{
"code" : "39812",
"display" : "Graft versus host disease"
},
{
"code" : "44890",
"display" : "Gastrointestinal stromal tumor"
},
{
"code" : "46135",
"display" : "Primary central nervous system lymphoma"
},
{
"code" : "46348",
"display" : "Paroxysmal extreme pain disorder"
},
{
"code" : "46532",
"display" : "Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome"
},
{
"code" : "47612",
"display" : "Felty syndrome"
},
{
"code" : "48377",
"display" : "Subcorneal pustular dermatosis"
},
{
"code" : "50815",
"display" : "Branchiogenic deafness syndrome"
},
{
"code" : "52368",
"display" : "Mohr-Tranebjaerg syndrome"
},
{
"code" : "53697",
"display" : "Gnathodiaphyseal dysplasia"
},
{
"code" : "55654",
"display" : "Hypotrichosis simplex"
},
{
"code" : "55880",
"display" : "Chondrosarcoma"
},
{
"code" : "59298",
"display" : "Schilder disease"
},
{
"code" : "59303",
"display" : "Neonatal ichthyosis-sclerosing cholangitis syndrome"
},
{
"code" : "59306",
"display" : "McLeod neuroacanthocytosis syndrome"
},
{
"code" : "60040",
"display" : "Megalencephaly-capillary malformation-polymicrogyria syndrome"
},
{
"code" : "63862",
"display" : "Schisis association"
},
{
"code" : "63999",
"display" : "IgG4-related mediastinitis"
},
{
"code" : "64734",
"display" : "Iridocorneal endothelial syndrome"
},
{
"code" : "64744",
"display" : "IgG4-related thyroid disease"
},
{
"code" : "64751",
"display" : "Hereditary motor and sensory neuropathy type 5"
},
{
"code" : "65683",
"display" : "Isolated focal cortical dysplasia"
},
{
"code" : "65798",
"display" : "Goodman syndrome"
},
{
"code" : "66630",
"display" : "Congenital pseudoarthrosis of the clavicle"
},
{
"code" : "67043",
"display" : "Amoebic keratitis"
},
{
"code" : "67048",
"display" : "3-methylglutaconic aciduria type 4"
},
{
"code" : "69665",
"display" : "Intrahepatic cholestasis of pregnancy"
},
{
"code" : "69744",
"display" : "Circumscribed palmoplantar hypokeratosis"
},
{
"code" : "70588",
"display" : "Meconium aspiration syndrome"
},
{
"code" : "70591",
"display" : "Chronic thromboembolic pulmonary hypertension"
},
{
"code" : "70595",
"display" : "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"
},
{
"code" : "71274",
"display" : "Disseminated peritoneal leiomyomatosis"
},
{
"code" : "71276",
"display" : "Silent sinus syndrome"
},
{
"code" : "73423",
"display" : "Acute ackee fruit intoxication"
},
{
"code" : "75249",
"display" : "Familial isolated restrictive cardiomyopathy"
},
{
"code" : "75374",
"display" : "Bradyopsia"
},
{
"code" : "75378",
"display" : "Oligocone trichromacy"
},
{
"code" : "75391",
"display" : "Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency"
},
{
"code" : "75563",
"display" : "X-linked sideroblastic anemia"
},
{
"code" : "75566",
"display" : "Loeffler endocarditis"
},
{
"code" : "79101",
"display" : "Hyperprolinemia type 2"
},
{
"code" : "79113",
"display" : "Mandibulofacial dysostosis-microcephaly syndrome"
},
{
"code" : "79133",
"display" : "Focal facial dermal dysplasia type I"
},
{
"code" : "79141",
"display" : "Hereditary painful callosities"
},
{
"code" : "79147",
"display" : "Familial reactive perforating collagenosis"
},
{
"code" : "79237",
"display" : "Galactokinase deficiency"
},
{
"code" : "79256",
"display" : "GM1 gangliosidosis type 2"
},
{
"code" : "79258",
"display" : "Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia"
},
{
"code" : "79332",
"display" : "B4GALT1-CDG"
},
{
"code" : "79396",
"display" : "Autosomal dominant generalized epidermolysis bullosa simplex, severe form"
},
{
"code" : "79414",
"display" : "Woolly hair nevus"
},
{
"code" : "79444",
"display" : "Pseudohypoparathyroidism type 1C"
},
{
"code" : "79473",
"display" : "Porphyria variegata"
},
{
"code" : "79485",
"display" : "Phakomatosis spilorosea"
},
{
"code" : "79492",
"display" : "Pili gemini"
},
{
"code" : "83315",
"display" : "Murine typhus"
},
{
"code" : "83419",
"display" : "Proximal spinal muscular atrophy type 3"
},
{
"code" : "83420",
"display" : "Proximal spinal muscular atrophy type 4"
},
{
"code" : "83594",
"display" : "Eastern equine encephalitis"
},
{
"code" : "85164",
"display" : "Camptodactyly-tall stature-scoliosis-hearing loss syndrome"
},
{
"code" : "85179",
"display" : "Infantile osteopetrosis with neuroaxonal dysplasia"
},
{
"code" : "85283",
"display" : "X-linked intellectual disability, Miles-Carpenter type"
},
{
"code" : "85286",
"display" : "X-linked intellectual disability, Shashi type"
},
{
"code" : "85287",
"display" : "X-linked intellectual disability, Siderius type"
},
{
"code" : "85321",
"display" : "Deafness-intellectual disability syndrome, Martin-Probst type"
},
{
"code" : "85338",
"display" : "X-linked intellectual disability-ataxia-apraxia syndrome"
},
{
"code" : "85443",
"display" : "AL amyloidosis"
},
{
"code" : "85445",
"display" : "AA amyloidosis"
},
{
"code" : "85448",
"display" : "AGel amyloidosis"
},
{
"code" : "85458",
"display" : "Hereditary cerebral hemorrhage with amyloidosis"
},
{
"code" : "86797",
"display" : "Atypical lichen myxedematosus"
},
{
"code" : "86812",
"display" : "POMT1-related limb-girdle muscular dystrophy R11"
},
{
"code" : "86816",
"display" : "Congenital analbuminemia"
},
{
"code" : "86819",
"display" : "Atrichia with papular lesions"
},
{
"code" : "86821",
"display" : "Lissencephaly type 3-familial fetal akinesia sequence syndrome"
},
{
"code" : "86867",
"display" : "Nodal marginal zone B-cell lymphoma"
},
{
"code" : "86872",
"display" : "T-cell large granular lymphocyte leukemia"
},
{
"code" : "86893",
"display" : "Nodular lymphocyte predominant Hodgkin lymphoma"
},
{
"code" : "86896",
"display" : "Histiocytic sarcoma"
},
{
"code" : "86903",
"display" : "Dendritic cell sarcoma not otherwise specified"
},
{
"code" : "86914",
"display" : "Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome"
},
{
"code" : "88619",
"display" : "Familial acute necrotizing encephalopathy"
},
{
"code" : "88635",
"display" : "Vacuolar myopathy with sarcoplasmic reticulum protein aggregates"
},
{
"code" : "88644",
"display" : "Autosomal recessive ataxia, Beauce type"
},
{
"code" : "89842",
"display" : "Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form"
},
{
"code" : "90002",
"display" : "Undifferentiated connective tissue syndrome"
},
{
"code" : "90050",
"display" : "Retinopathy of prematurity"
},
{
"code" : "90062",
"display" : "Acute liver failure"
},
{
"code" : "90081",
"display" : "AIDS wasting syndrome"
},
{
"code" : "90103",
"display" : "Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome"
},
{
"code" : "90120",
"display" : "Hereditary motor and sensory neuropathy type 6"
},
{
"code" : "90283",
"display" : "Lupus erythematosus tumidus"
},
{
"code" : "90301",
"display" : "Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome"
},
{
"code" : "90363",
"display" : "Secondary intestinal lymphangiectasia"
},
{
"code" : "90394",
"display" : "Discrete papular lichen myxedematosus"
},
{
"code" : "90396",
"display" : "Acral persistent papular mucinosis"
},
{
"code" : "90399",
"display" : "Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms"
},
{
"code" : "90646",
"display" : "Deafness-hypogonadism syndrome"
},
{
"code" : "90652",
"display" : "Otopalatodigital syndrome type 2"
},
{
"code" : "90790",
"display" : "Congenital lipoid adrenal hyperplasia due to STAR deficency"
},
{
"code" : "91135",
"display" : "Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency"
},
{
"code" : "91351",
"display" : "Pituitary dermoid and epidermoid cysts"
},
{
"code" : "91355",
"display" : "Sheehan syndrome"
},
{
"code" : "91364",
"display" : "Non-specific interstitial pneumonia"
},
{
"code" : "91396",
"display" : "Isolated cryptophthalmia"
},
{
"code" : "91500",
"display" : "Tubulointerstitial nephritis and uveitis syndrome"
},
{
"code" : "93164",
"display" : "Transient pseudohypoaldosteronism"
},
{
"code" : "93276",
"display" : "Polyostotic fibrous dysplasia"
},
{
"code" : "93283",
"display" : "Spondyloepiphyseal dysplasia, Kimberley type"
},
{
"code" : "93293",
"display" : "Okihiro syndrome"
},
{
"code" : "93555",
"display" : "Mixed cryoglobulinemia type III"
},
{
"code" : "93558",
"display" : "Light chain deposition disease"
},
{
"code" : "93571",
"display" : "Dense deposit disease"
},
{
"code" : "93925",
"display" : "Alobar holoprosencephaly"
},
{
"code" : "93958",
"display" : "Oromandibular dystonia"
},
{
"code" : "93964",
"display" : "Blepharospasm-oromandibular dystonia syndrome"
},
{
"code" : "94089",
"display" : "Pseudohypoparathyroidism type 1B"
},
{
"code" : "94124",
"display" : "Spinocerebellar ataxia with axonal neuropathy type 1"
},
{
"code" : "95433",
"display" : "Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome"
},
{
"code" : "95494",
"display" : "Combined pituitary hormone deficiencies, genetic forms"
},
{
"code" : "95613",
"display" : "Pituitary apoplexy"
},
{
"code" : "96096",
"display" : "Distal duplication 4q"
},
{
"code" : "96103",
"display" : "Distal duplication 11q"
},
{
"code" : "96107",
"display" : "Distal duplication 20q"
},
{
"code" : "96121",
"display" : "7q11.23 microduplication syndrome"
},
{
"code" : "96170",
"display" : "Emanuel syndrome"
},
{
"code" : "96179",
"display" : "Maternal uniparental disomy of chromosome 2"
},
{
"code" : "96191",
"display" : "Paternal uniparental disomy of chromosome 6"
},
{
"code" : "96194",
"display" : "Paternal uniparental disomy of chromosome 20"
},
{
"code" : "96334",
"display" : "Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14"
},
{
"code" : "97229",
"display" : "Riboflavin transporter deficiency"
},
{
"code" : "97238",
"display" : "Rippling muscle disease"
},
{
"code" : "97239",
"display" : "Reducing body myopathy"
},
{
"code" : "97330",
"display" : "Thoracic outlet syndrome"
},
{
"code" : "97346",
"display" : "ADan amyloidosis"
},
{
"code" : "97362",
"display" : "Renal hypoplasia, bilateral"
},
{
"code" : "97563",
"display" : "Pauci-immune glomerulonephritis with ANCA"
},
{
"code" : "97567",
"display" : "Immunotactoid glomerulopathy"
},
{
"code" : "98267",
"display" : "Genetic non-syndromic obesity"
},
{
"code" : "98769",
"display" : "Spinocerebellar ataxia type 15/16"
},
{
"code" : "98811",
"display" : "Paroxysmal exertion-induced dyskinesia"
},
{
"code" : "98813",
"display" : "Hypohidrotic ectodermal dysplasia with immunodeficiency"
},
{
"code" : "98815",
"display" : "Benign childhood occipital epilepsy, Panayiotopoulos type"
},
{
"code" : "98842",
"display" : "Lymphomatoid papulosis"
},
{
"code" : "98890",
"display" : "Early-onset X-linked optic atrophy"
},
{
"code" : "98911",
"display" : "Distal myotilinopathy"
},
{
"code" : "98917",
"display" : "Acute motor and sensory axonal neuropathy"
},
{
"code" : "98950",
"display" : "Partial cryptophthalmia"
},
{
"code" : "98951",
"display" : "Inverse Marcus-Gunn phenomenon"
},
{
"code" : "98955",
"display" : "Lisch epithelial corneal dystrophy"
},
{
"code" : "98958",
"display" : "Climatic droplet keratopathy"
},
{
"code" : "98959",
"display" : "Subepithelial mucinous corneal dystrophy"
},
{
"code" : "98988",
"display" : "Early-onset anterior polar cataract"
},
{
"code" : "99043",
"display" : "Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis"
},
{
"code" : "99063",
"display" : "Shone complex"
},
{
"code" : "99079",
"display" : "Cervical aortic arch"
},
{
"code" : "99087",
"display" : "Coronary ostial stenosis or atresia"
},
{
"code" : "99089",
"display" : "Abnormal number of coronary ostia"
},
{
"code" : "99094",
"display" : "Laubry-Pezzi syndrome"
},
{
"code" : "99095",
"display" : "Congenital Gerbode defect"
},
{
"code" : "99098",
"display" : "Cor triatriatum dexter"
},
{
"code" : "99112",
"display" : "Absence of innominate vein"
},
{
"code" : "99329",
"display" : "48,XYYY syndrome"
},
{
"code" : "99704",
"display" : "Early-onset obesity-hyperphagia-severe developmental delay syndrome"
},
{
"code" : "99736",
"display" : "Acetazolamide-responsive myotonia"
},
{
"code" : "99789",
"display" : "Dentin dysplasia type I"
},
{
"code" : "99802",
"display" : "Hemimegalencephaly"
},
{
"code" : "99803",
"display" : "Haddad syndrome"
},
{
"code" : "99806",
"display" : "Oculootodental syndrome"
},
{
"code" : "99824",
"display" : "Lassa fever"
},
{
"code" : "99844",
"display" : "Leukocyte adhesion deficiency type III"
},
{
"code" : "99857",
"display" : "Secondary syringomyelia"
},
{
"code" : "99865",
"display" : "Spermatocytic seminoma"
},
{
"code" : "99903",
"display" : "Spirillary rat-bite fever"
},
{
"code" : "99918",
"display" : "Streptococcal toxic-shock syndrome"
},
{
"code" : "99925",
"display" : "Invasive mole"
},
{
"code" : "99940",
"display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2F"
},
{
"code" : "99947",
"display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2A2"
},
{
"code" : "99967",
"display" : "Myxoid/round cell liposarcoma"
},
{
"code" : "99970",
"display" : "Dedifferentiated liposarcoma"
},
{
"code" : "99995",
"display" : "Complex regional pain syndrome type 1"
},
{
"code" : "100000",
"display" : "Reticular perineurioma"
},
{
"code" : "100013",
"display" : "Lissencephaly with cerebellar hypoplasia type C"
},
{
"code" : "100014",
"display" : "Lissencephaly with cerebellar hypoplasia type D"
},
{
"code" : "100020",
"display" : "Refractory anemia with excess blasts type 2"
},
{
"code" : "100024",
"display" : "Mu-heavy chain disease"
},
{
"code" : "100034",
"display" : "Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism"
},
{
"code" : "100047",
"display" : "Esophageal duplication cyst"
},
{
"code" : "100055",
"display" : "Acquired angioedema type 2"
},
{
"code" : "100081",
"display" : "Neuroendocrine tumor of the rectum"
},
{
"code" : "100924",
"display" : "Porphyria due to ALA dehydratase deficiency"
},
{
"code" : "100978",
"display" : "Cloverleaf skull-asphyxiating thoracic dysplasia syndrome"
},
{
"code" : "101075",
"display" : "X-linked Charcot-Marie-Tooth disease type 1"
},
{
"code" : "101076",
"display" : "X-linked Charcot-Marie-Tooth disease type 2"
},
{
"code" : "101083",
"display" : "Charcot-Marie-Tooth disease type 1C"
},
{
"code" : "101092",
"display" : "Hyper-IgM syndrome type 5"
},
{
"code" : "101097",
"display" : "Autosomal recessive Charcot-Marie-Tooth disease with hoarseness"
},
{
"code" : "101101",
"display" : "Charcot-Marie-Tooth disease type 2B2"
},
{
"code" : "101150",
"display" : "Autosomal recessive dopa-responsive dystonia"
},
{
"code" : "101334",
"display" : "African tick typhus"
},
{
"code" : "102381",
"display" : "Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor"
},
{
"code" : "137577",
"display" : "Neonatal hypoxic and ischemic brain injury"
},
{
"code" : "137593",
"display" : "Infectious epithelial keratitis"
},
{
"code" : "137631",
"display" : "Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome"
},
{
"code" : "137634",
"display" : "Overgrowth-macrocephaly-facial dysmorphism syndrome"
},
{
"code" : "137783",
"display" : "Lethal congenital contracture syndrome type 3"
},
{
"code" : "137839",
"display" : "Lemierre syndrome"
},
{
"code" : "137920",
"display" : "Choanal atresia, bilateral"
},
{
"code" : "137926",
"display" : "Primary laryngeal lymphangioma"
},
{
"code" : "137935",
"display" : "Laryngotracheal angioma"
},
{
"code" : "139431",
"display" : "Jeavons syndrome"
},
{
"code" : "139474",
"display" : "17q11.2 microduplication syndrome"
},
{
"code" : "139518",
"display" : "Distal hereditary motor neuropathy type 1"
},
{
"code" : "140908",
"display" : "Brachydactyly type B2"
},
{
"code" : "140941",
"display" : "Short stature due to primary acid-labile subunit deficiency"
},
{
"code" : "140976",
"display" : "RHYNS syndrome"
},
{
"code" : "141071",
"display" : "Digestive duplication cyst of the tongue"
},
{
"code" : "141083",
"display" : "Nasolacrimal duct cyst"
},
{
"code" : "141103",
"display" : "Nasal dermoid cyst"
},
{
"code" : "141124",
"display" : "Congenital laryngeal cyst"
},
{
"code" : "141145",
"display" : "Hemifacial hyperplasia"
},
{
"code" : "141168",
"display" : "Frontonasal arteriovenous malformation"
},
{
"code" : "141171",
"display" : "Maxillary arteriovenous malformation"
},
{
"code" : "141219",
"display" : "Nasal dorsum fistula"
},
{
"code" : "158000",
"display" : "Juvenile xanthogranuloma"
},
{
"code" : "158011",
"display" : "Necrobiotic xanthogranuloma"
},
{
"code" : "158681",
"display" : "Epidermolysis bullosa simplex with circinate migratory erythema"
},
{
"code" : "163665",
"display" : "Spondyloepiphyseal dysplasia tarda, Kohn type"
},
{
"code" : "163985",
"display" : "Hyperekplexia-epilepsy syndrome"
},
{
"code" : "166016",
"display" : "Multiple epiphyseal dysplasia, Lowry type"
},
{
"code" : "166029",
"display" : "Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia"
},
{
"code" : "166105",
"display" : "FASTKD2-related infantile mitochondrial encephalomyopathy"
},
{
"code" : "166113",
"display" : "Bazex syndrome"
},
{
"code" : "166427",
"display" : "Startle epilepsy"
},
{
"code" : "168451",
"display" : "Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome"
},
{
"code" : "168491",
"display" : "Late infantile neuronal ceroid lipofuscinosis"
},
{
"code" : "168569",
"display" : "H syndrome"
},
{
"code" : "168606",
"display" : "Seborrhea-like dermatitis with psoriasiform elements"
},
{
"code" : "168621",
"display" : "Dysplasia of head of femur, Meyer type"
},
{
"code" : "168953",
"display" : "Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement"
},
{
"code" : "169160",
"display" : "T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta"
},
{
"code" : "169793",
"display" : "Severe hemophilia B"
},
{
"code" : "169802",
"display" : "Severe hemophilia A"
},
{
"code" : "171607",
"display" : "X-linked spastic paraplegia type 34"
},
{
"code" : "178342",
"display" : "Inflammatory myofibroblastic tumor"
},
{
"code" : "178345",
"display" : "Aromatase excess syndrome"
},
{
"code" : "178487",
"display" : "Adult intestinal botulism"
},
{
"code" : "178533",
"display" : "Primary cutaneous gamma/delta-positive T-cell lymphoma"
},
{
"code" : "178544",
"display" : "Primary cutaneous diffuse large B-cell lymphoma, leg type"
},
{
"code" : "180111",
"display" : "Bicervical bicornuate uterus with patent cervix and vagina"
},
{
"code" : "183663",
"display" : "Hyper-IgM syndrome with susceptibility to opportunistic infections"
},
{
"code" : "199302",
"display" : "Isolated cleft lip"
},
{
"code" : "199323",
"display" : "Endophthalmitis"
},
{
"code" : "199630",
"display" : "Isolated cerebellar vermis hypoplasia"
},
{
"code" : "206436",
"display" : "Infantile Krabbe disease"
},
{
"code" : "206554",
"display" : "Fukutin-related limb-girdle muscular dystrophy R13"
},
{
"code" : "206575",
"display" : "Rippling muscle disease with myasthenia gravis"
},
{
"code" : "206994",
"display" : "Bacterial myositis"
},
{
"code" : "209905",
"display" : "Brain-lung-thyroid syndrome"
},
{
"code" : "209908",
"display" : "Isolated childhood apraxia of speech"
},
{
"code" : "213528",
"display" : "Rare adenocarcinoma of the breast"
},
{
"code" : "213557",
"display" : "Salivary gland type cancer of the breast"
},
{
"code" : "213610",
"display" : "Carcinosarcoma of the corpus uteri"
},
{
"code" : "213615",
"display" : "Rhabdomyosarcoma of the corpus uteri"
},
{
"code" : "213716",
"display" : "Squamous cell carcinoma of the corpus uteri"
},
{
"code" : "213721",
"display" : "Undifferentiated carcinoma of the corpus uteri"
},
{
"code" : "213726",
"display" : "Serous carcinoma of the corpus uteri"
},
{
"code" : "213767",
"display" : "Squamous cell carcinoma of the cervix uteri"
},
{
"code" : "213792",
"display" : "Adenosarcoma of the cervix uteri"
},
{
"code" : "216972",
"display" : "Niemann-Pick disease type C, severe perinatal form"
},
{
"code" : "217067",
"display" : "Pouchitis"
},
{
"code" : "217260",
"display" : "Progressive multifocal leukoencephalopathy"
},
{
"code" : "217266",
"display" : "BNAR syndrome"
},
{
"code" : "217371",
"display" : "Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins"
},
{
"code" : "217385",
"display" : "17p13.3 microduplication syndrome"
},
{
"code" : "217399",
"display" : "Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation"
},
{
"code" : "217557",
"display" : "Pulmonary interstitial glycogenosis"
},
{
"code" : "220295",
"display" : "Xeroderma pigmentosum-Cockayne syndrome complex"
},
{
"code" : "220448",
"display" : "Macrothrombocytopenia with mitral valve insufficiency"
},
{
"code" : "221008",
"display" : "Rothmund-Thomson syndrome type 1"
},
{
"code" : "221016",
"display" : "Rothmund-Thomson syndrome type 2"
},
{
"code" : "221054",
"display" : "Acrocephalopolydactyly"
},
{
"code" : "221091",
"display" : "Trigeminal neuralgia"
},
{
"code" : "221126",
"display" : "Fowler vasculopathy"
},
{
"code" : "225154",
"display" : "Familial infantile bilateral striatal necrosis"
},
{
"code" : "227510",
"display" : "Multiple system atrophy, cerebellar type"
},
{
"code" : "228116",
"display" : "Hughes-Stovin syndrome"
},
{
"code" : "228236",
"display" : "Linear focal elastosis"
},
{
"code" : "228243",
"display" : "Elastofibroma dorsi"
},
{
"code" : "228277",
"display" : "Familial anetoderma"
},
{
"code" : "228290",
"display" : "White fibrous papulosis of the neck"
},
{
"code" : "228293",
"display" : "Pseudoxanthoma elasticum-like papillary dermal elastolysis"
},
{
"code" : "228340",
"display" : "CLN4A disease"
},
{
"code" : "228363",
"display" : "CLN6 disease"
},
{
"code" : "228410",
"display" : "Polyvalvular heart disease syndrome"
},
{
"code" : "231117",
"display" : "Beckwith-Wiedemann syndrome due to imprinting defect of 11p15"
},
{
"code" : "231249",
"display" : "Hemoglobin E-beta-thalassemia syndrome"
},
{
"code" : "238269",
"display" : "AApoAII amyloidosis"
},
{
"code" : "238329",
"display" : "Severe X-linked mitochondrial encephalomyopathy"
},
{
"code" : "238593",
"display" : "IgG4-related mesenteritis"
},
{
"code" : "238670",
"display" : "Isolated thyrotropin-releasing hormone deficiency"
},
{
"code" : "238722",
"display" : "Familial congenital mirror movements"
},
{
"code" : "238769",
"display" : "1q44 microdeletion syndrome"
},
{
"code" : "240071",
"display" : "Classic progressive supranuclear palsy syndrome"
},
{
"code" : "240094",
"display" : "Progressive supranuclear palsy-pure akinesia with gait freezing syndrome"
},
{
"code" : "240112",
"display" : "Progressive supranuclear palsy-progressive non-fluent aphasia syndrome"
},
{
"code" : "243343",
"display" : "Dimethylglycine dehydrogenase deficiency"
},
{
"code" : "247245",
"display" : "Superficial siderosis"
},
{
"code" : "247768",
"display" : "Müllerian aplasia and hyperandrogenism"
},
{
"code" : "247794",
"display" : "Juvenile cataract-microcornea-renal glucosuria syndrome"
},
{
"code" : "247827",
"display" : "Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome"
},
{
"code" : "250923",
"display" : "Isolated aniridia"
},
{
"code" : "251287",
"display" : "Benign concentric annular macular dystrophy"
},
{
"code" : "251304",
"display" : "Infantile onset panniculitis with uveitis and systemic granulomatosis"
},
{
"code" : "251370",
"display" : "Sickle cell-hemoglobin D disease syndrome"
},
{
"code" : "251393",
"display" : "Localized junctional epidermolysis bullosa"
},
{
"code" : "251510",
"display" : "46,XY partial gonadal dysgenesis"
},
{
"code" : "251579",
"display" : "Giant cell glioblastoma"
},
{
"code" : "251601",
"display" : "Fibrillary astrocytoma"
},
{
"code" : "251627",
"display" : "Oligodendroglioma"
},
{
"code" : "251674",
"display" : "Chordoid glioma"
},
{
"code" : "251931",
"display" : "Cerebellar liponeurocytoma"
},
{
"code" : "252050",
"display" : "Primary melanoma of the central nervous system"
},
{
"code" : "252206",
"display" : "Melanoma and neural system tumor syndrome"
},
{
"code" : "254351",
"display" : "Distal 7q11.23 microdeletion syndrome"
},
{
"code" : "254379",
"display" : "Linear lichen planus"
},
{
"code" : "254516",
"display" : "Temple syndrome"
},
{
"code" : "254528",
"display" : "Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion"
},
{
"code" : "254864",
"display" : "Mitochondrial myopathy with reversible cytochrome C oxidase deficiency"
},
{
"code" : "254881",
"display" : "Spinocerebellar ataxia with epilepsy"
},
{
"code" : "261112",
"display" : "Monosomy 9p"
},
{
"code" : "261197",
"display" : "Proximal 16p11.2 microdeletion syndrome"
},
{
"code" : "261494",
"display" : "Kleefstra syndrome"
},
{
"code" : "261519",
"display" : "Maternal uniparental disomy of chromosome X"
},
{
"code" : "263297",
"display" : "Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency"
},
{
"code" : "263487",
"display" : "COG5-CDG"
},
{
"code" : "263494",
"display" : "DPM3-CDG"
},
{
"code" : "263534",
"display" : "Acral peeling skin syndrome"
},
{
"code" : "263543",
"display" : "Generalized peeling skin syndrome"
},
{
"code" : "268162",
"display" : "Intermediate maple syrup urine disease"
},
{
"code" : "268820",
"display" : "Cranial meningocele"
},
{
"code" : "268826",
"display" : "Parietal encephalocele"
},
{
"code" : "268973",
"display" : "Isolated focal cortical dysplasia type Ia"
},
{
"code" : "269212",
"display" : "Isolated Dandy-Walker malformation with hydrocephalus"
},
{
"code" : "275872",
"display" : "Frontotemporal dementia with motor neuron disease"
},
{
"code" : "276183",
"display" : "Spinocerebellar ataxia type 32"
},
{
"code" : "276212",
"display" : "Mucopolysaccharidosis type 6, rapidly progressing"
},
{
"code" : "276238",
"display" : "Machado-Joseph disease type 1"
},
{
"code" : "276435",
"display" : "Lower motor neuron syndrome with late-adult onset"
},
{
"code" : "276580",
"display" : "Autosomal dominant hyperinsulinism due to Kir6.2 deficiency"
},
{
"code" : "276603",
"display" : "Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency"
},
{
"code" : "279882",
"display" : "Spasmus nutans"
},
{
"code" : "279891",
"display" : "Chronic endophthalmitis"
},
{
"code" : "280195",
"display" : "Septopreoptic holoprosencephaly"
},
{
"code" : "280365",
"display" : "Autosomal semi-dominant severe lipodystrophic laminopathy"
},
{
"code" : "280558",
"display" : "Warsaw breakage syndrome"
},
{
"code" : "280586",
"display" : "Chondrodysplasia with joint dislocations, gPAPP type"
},
{
"code" : "280763",
"display" : "Severe intellectual disability and progressive spastic paraplegia"
},
{
"code" : "280794",
"display" : "Pseudoxanthomatous diffuse cutaneous mastocytosis"
},
{
"code" : "280847",
"display" : "Congenital pulmonary airway malformation type 3"
},
{
"code" : "284395",
"display" : "Well-differentiated fetal adenocarcinoma of the lung"
},
{
"code" : "284454",
"display" : "Acute zonal occult outer retinopathy"
},
{
"code" : "284973",
"display" : "Marfan syndrome type 2"
},
{
"code" : "289347",
"display" : "Infective dermatitis associated with HTLV-1"
},
{
"code" : "289356",
"display" : "Primary non-gestational choriocarcinoma of ovary"
},
{
"code" : "289365",
"display" : "Familial vesicoureteral reflux"
},
{
"code" : "289385",
"display" : "Malignancy diagnosed during pregnancy"
},
{
"code" : "289499",
"display" : "Congenital cataract microcornea with corneal opacity"
},
{
"code" : "289596",
"display" : "Juvenile nasopharyngeal angiofibroma"
},
{
"code" : "293168",
"display" : "Infantile-onset ascending hereditary spastic paralysis"
},
{
"code" : "293375",
"display" : "Grayson-Wilbrandt corneal dystrophy"
},
{
"code" : "293621",
"display" : "X-linked endothelial corneal dystrophy"
},
{
"code" : "293936",
"display" : "EDICT syndrome"
},
{
"code" : "294986",
"display" : "Apodia"
},
{
"code" : "295036",
"display" : "Congenital patella dislocation"
},
{
"code" : "295241",
"display" : "Macrodactyly of fingers, bilateral"
},
{
"code" : "295243",
"display" : "Macrodactyly of toes, unilateral"
},
{
"code" : "300382",
"display" : "Progeroid and marfanoid aspect-lipodystrophy syndrome"
},
{
"code" : "300525",
"display" : "Pseudohypoaldosteronism type 2D"
},
{
"code" : "300547",
"display" : "Autosomal recessive infantile hypercalcemia"
},
{
"code" : "300576",
"display" : "Oligodontia-cancer predisposition syndrome"
},
{
"code" : "300605",
"display" : "Juvenile amyotrophic lateral sclerosis"
},
{
"code" : "306511",
"display" : "Autosomal recessive spastic paraplegia type 48"
},
{
"code" : "306550",
"display" : "FADD-related immunodeficiency"
},
{
"code" : "306661",
"display" : "Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome"
},
{
"code" : "308386",
"display" : "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A"
},
{
"code" : "308393",
"display" : "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B"
},
{
"code" : "308621",
"display" : "Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form"
},
{
"code" : "308684",
"display" : "Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form"
},
{
"code" : "308698",
"display" : "Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form"
},
{
"code" : "309031",
"display" : "Pancreatic triacylglycerol lipase deficiency"
},
{
"code" : "309271",
"display" : "Metachromatic leukodystrophy, adult form"
},
{
"code" : "309282",
"display" : "Alpha-mannosidosis, infantile form"
},
{
"code" : "309288",
"display" : "Alpha-mannosidosis, adult form"
},
{
"code" : "309803",
"display" : "Rhizomelic chondrodysplasia punctata type 3"
},
{
"code" : "313808",
"display" : "Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia"
},
{
"code" : "314404",
"display" : "Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome"
},
{
"code" : "314422",
"display" : "Ameloblastic carcinoma"
},
{
"code" : "314473",
"display" : "Ovarian fibroma"
},
{
"code" : "314647",
"display" : "Non-progressive cerebellar ataxia with intellectual disability"
},
{
"code" : "314684",
"display" : "Primary bone lymphoma"
},
{
"code" : "314790",
"display" : "Null pituitary adenoma"
},
{
"code" : "319195",
"display" : "Chondroectodermal dysplasia with night blindness"
},
{
"code" : "319213",
"display" : "Lujo hemorrhagic fever"
},
{
"code" : "319254",
"display" : "Kyasanur forest disease"
},
{
"code" : "319480",
"display" : "Acute myeloid leukemia with CEBPA somatic mutations"
},
{
"code" : "319487",
"display" : "Familial papillary or follicular thyroid carcinoma"
},
{
"code" : "319595",
"display" : "Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency"
},
{
"code" : "319600",
"display" : "Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency"
},
{
"code" : "319651",
"display" : "Constitutional megaloblastic anemia with severe neurologic disease"
},
{
"code" : "324410",
"display" : "X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome"
},
{
"code" : "324708",
"display" : "ABeta amyloidosis, Iowa type"
},
{
"code" : "329324",
"display" : "Inverse Klippel-Trénaunay syndrome"
},
{
"code" : "329329",
"display" : "Autosomal recessive frontotemporal pachygyria"
},
{
"code" : "329931",
"display" : "C3 glomerulonephritis"
},
{
"code" : "329942",
"display" : "Transient neonatal multiple acyl-CoA dehydrogenase deficiency"
},
{
"code" : "331235",
"display" : "Selective IgM deficiency"
},
{
"code" : "352649",
"display" : "Brain dopamine-serotonin vesicular transport disease"
},
{
"code" : "352682",
"display" : "Cobblestone lissencephaly without muscular or ocular involvement"
},
{
"code" : "352763",
"display" : "Scleredema"
},
{
"code" : "353220",
"display" : "Familial primary localized cutaneous amyloidosis"
},
{
"code" : "353284",
"display" : "Rubinstein-Taybi syndrome due to EP300 haploinsufficiency"
},
{
"code" : "357074",
"display" : "Autosomal recessive cutis laxa type 2, classic type"
},
{
"code" : "357154",
"display" : "Oral submucous fibrosis"
},
{
"code" : "357237",
"display" : "Severe combined immunodeficiency due to CARD11 deficiency"
},
{
"code" : "357332",
"display" : "Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome"
},
{
"code" : "363409",
"display" : "Fetal akinesia-cerebral and retinal hemorrhage syndrome"
},
{
"code" : "363429",
"display" : "Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome"
},
{
"code" : "363447",
"display" : "Autosomal dominant childhood-onset proximal spinal muscular atrophy"
},
{
"code" : "363489",
"display" : "Sex cord-stromal tumor of testis"
},
{
"code" : "363494",
"display" : "Non-seminomatous germ cell tumor of testis"
},
{
"code" : "363618",
"display" : "LMNA-related cardiocutaneous progeria syndrome"
},
{
"code" : "363717",
"display" : "Alexander disease type I"
},
{
"code" : "363965",
"display" : "Koolen-De Vries syndrome due to a point mutation"
},
{
"code" : "363976",
"display" : "Giant cell tumor of bone"
},
{
"code" : "363981",
"display" : "Charcot-Marie-Tooth disease type 4B3"
},
{
"code" : "363999",
"display" : "Non-immune hydrops fetalis"
},
{
"code" : "364198",
"display" : "Bipartite talus"
},
{
"code" : "369861",
"display" : "Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome"
},
{
"code" : "369867",
"display" : "Autosomal recessive intermediate Charcot-Marie-Tooth disease type C"
},
{
"code" : "369891",
"display" : "Developmental delay-facial dysmorphism syndrome due to MED13L deficiency"
},
{
"code" : "369913",
"display" : "Combined oxidative phosphorylation defect type 17"
},
{
"code" : "369962",
"display" : "Methylmalonic acidemia with homocystinuria, type cblX"
},
{
"code" : "370348",
"display" : "Peripheral primitive neuroectodermal tumor"
},
{
"code" : "370959",
"display" : "Congenital muscular dystrophy with cerebellar involvement"
},
{
"code" : "370968",
"display" : "Congenital muscular dystrophy with intellectual disability"
},
{
"code" : "391316",
"display" : "Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression"
},
{
"code" : "391320",
"display" : "East Texas bleeding disorder"
},
{
"code" : "391327",
"display" : "X-linked calvarial hyperostosis"
},
{
"code" : "391348",
"display" : "Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome"
},
{
"code" : "391497",
"display" : "Juvenile myasthenia gravis"
},
{
"code" : "391655",
"display" : "Off-periods in Parkinson disease not responding to oral treatment"
},
{
"code" : "391673",
"display" : "Necrotizing enterocolitis"
},
{
"code" : "397692",
"display" : "Hereditary isolated aplastic anemia"
},
{
"code" : "397744",
"display" : "Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome"
},
{
"code" : "397787",
"display" : "Severe combined immunodeficiency due to IKK2 deficiency"
},
{
"code" : "397933",
"display" : "Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome"
},
{
"code" : "397964",
"display" : "Combined immunodeficiency due to MALT1 deficiency"
},
{
"code" : "398069",
"display" : "MAGEL2-related Prader-Willi-like syndrome"
},
{
"code" : "398079",
"display" : "SIM1-related Prader-Willi-like syndrome"
},
{
"code" : "398109",
"display" : "Neonatal autoimmune hemolytic anemia"
},
{
"code" : "398124",
"display" : "Neonatal lupus erythematosus"
},
{
"code" : "399081",
"display" : "KLHL9-related early-onset distal myopathy"
},
{
"code" : "399086",
"display" : "Finnish upper limb-onset distal myopathy"
},
{
"code" : "399329",
"display" : "Epiphysiolysis of the hip"
},
{
"code" : "401768",
"display" : "Proximal myopathy with extrapyramidal signs"
},
{
"code" : "401923",
"display" : "9q31.1q31.3 microdeletion syndrome"
},
{
"code" : "401964",
"display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons"
},
{
"code" : "401996",
"display" : "Karyomegalic interstitial nephritis"
},
{
"code" : "402003",
"display" : "Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering"
},
{
"code" : "402035",
"display" : "Eosinophilic colitis"
},
{
"code" : "402075",
"display" : "Familial bicuspid aortic valve"
},
{
"code" : "404443",
"display" : "Tatton-Brown-Rahman syndrome"
},
{
"code" : "411590",
"display" : "Wolfram-like syndrome"
},
{
"code" : "411602",
"display" : "Hereditary late-onset Parkinson disease"
},
{
"code" : "411629",
"display" : "Infantile nephropathic cystinosis"
},
{
"code" : "418945",
"display" : "Carcinoma of esophagus, salivary gland type"
},
{
"code" : "420728",
"display" : "Combined oxidative phosphorylation defect type 20"
},
{
"code" : "423296",
"display" : "Spinocerebellar ataxia type 38"
},
{
"code" : "423712",
"display" : "Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy"
},
{
"code" : "423894",
"display" : "Microcephaly-complex motor and sensory axonal neuropathy syndrome"
},
{
"code" : "431166",
"display" : "Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection"
},
{
"code" : "431255",
"display" : "Scapuloperoneal spinal muscular atrophy"
},
{
"code" : "431329",
"display" : "Autosomal recessive spastic paraplegia type 57"
},
{
"code" : "431344",
"display" : "Urachal sinus"
},
{
"code" : "431347",
"display" : "Urachal diverticulum"
},
{
"code" : "435638",
"display" : "3p25.3 microdeletion syndrome"
},
{
"code" : "435845",
"display" : "Lethal neonatal spasticity-epileptic encephalopathy syndrome"
},
{
"code" : "435998",
"display" : "Autosomal recessive intermediate Charcot-Marie-Tooth disease type D"
},
{
"code" : "436144",
"display" : "Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome"
},
{
"code" : "436245",
"display" : "Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome"
},
{
"code" : "439822",
"display" : "PDE4D haploinsufficiency syndrome"
},
{
"code" : "440392",
"display" : "Interstitial lung disease due to SP-C deficiency"
},
{
"code" : "440724",
"display" : "Extensive peripapillary myelinated nerve fibers"
},
{
"code" : "443057",
"display" : "Sporadic porphyria cutanea tarda"
},
{
"code" : "443073",
"display" : "Charcot-Marie-Tooth disease type 2S"
},
{
"code" : "443084",
"display" : "Baroreflex failure"
},
{
"code" : "443236",
"display" : "Postural orthostatic tachycardia syndrome due to NET deficiency"
},
{
"code" : "444138",
"display" : "Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome"
},
{
"code" : "445018",
"display" : "Combined immunodeficiency due to LRBA deficiency"
},
{
"code" : "447731",
"display" : "NIK deficiency"
},
{
"code" : "447784",
"display" : "Mitochondrial pyruvate carrier deficiency"
},
{
"code" : "448010",
"display" : "CAD-CDG"
},
{
"code" : "448242",
"display" : "Autosomal recessive brachyolmia"
},
{
"code" : "449280",
"display" : "Scedosporiosis"
},
{
"code" : "454718",
"display" : "Holmes-Adie syndrome"
},
{
"code" : "454836",
"display" : "Avian influenza"
},
{
"code" : "9",
"display" : "Tetrasomy X"
},
{
"code" : "10",
"display" : "48,XXYY syndrome"
},
{
"code" : "11",
"display" : "Pentasomy X"
},
{
"code" : "20",
"display" : "3-hydroxy-3-methylglutaric aciduria"
},
{
"code" : "30",
"display" : "Hereditary orotic aciduria"
},
{
"code" : "38",
"display" : "Acrokeratoelastoidosis of Costa"
},
{
"code" : "44",
"display" : "Neonatal adrenoleukodystrophy"
},
{
"code" : "53",
"display" : "Albers-Schönberg osteopetrosis"
},
{
"code" : "71",
"display" : "Chylomicron retention disease"
},
{
"code" : "80",
"display" : "Antiphospholipid syndrome"
},
{
"code" : "81",
"display" : "Antisynthetase syndrome"
},
{
"code" : "84",
"display" : "Fanconi anemia"
},
{
"code" : "88",
"display" : "Idiopathic aplastic anemia"
},
{
"code" : "91",
"display" : "Aromatase deficiency"
},
{
"code" : "108",
"display" : "Babesiosis"
},
{
"code" : "116",
"display" : "Beckwith-Wiedemann syndrome"
},
{
"code" : "126",
"display" : "Blepharophimosis-ptosis-epicanthus inversus syndrome"
},
{
"code" : "135",
"display" : "CACH syndrome"
},
{
"code" : "457077",
"display" : "TAFRO syndrome"
},
{
"code" : "457193",
"display" : "Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome"
},
{
"code" : "457240",
"display" : "X-linked intellectual disability-short stature-overweight syndrome"
},
{
"code" : "457260",
"display" : "X-linked intellectual disability-hypotonia-movement disorder syndrome"
},
{
"code" : "457359",
"display" : "Megalencephaly-severe kyphoscoliosis-overgrowth syndrome"
},
{
"code" : "457375",
"display" : "ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement"
},
{
"code" : "457395",
"display" : "Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome"
},
{
"code" : "458792",
"display" : "Mixed cystic lymphatic malformation"
},
{
"code" : "459061",
"display" : "Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome"
},
{
"code" : "459074",
"display" : "Corpus callosum agenesis-macrocephaly-hypertelorism syndrome"
},
{
"code" : "464282",
"display" : "Spastic paraplegia-severe developmental delay-epilepsy syndrome"
},
{
"code" : "464370",
"display" : "Neonatal alloimmune neutropenia"
},
{
"code" : "464443",
"display" : "COG6-CGD"
},
{
"code" : "464453",
"display" : "Acquired methemoglobinemia"
},
{
"code" : "465824",
"display" : "Fetal encasement syndrome"
},
{
"code" : "466682",
"display" : "Euthyroid Graves orbitopathy"
},
{
"code" : "466962",
"display" : "SMARCA4-deficient sarcoma of thorax"
},
{
"code" : "477738",
"display" : "Pediatric multiple sclerosis"
},
{
"code" : "480524",
"display" : "Idiopathic peliosis hepatis"
},
{
"code" : "480907",
"display" : "X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome"
},
{
"code" : "481152",
"display" : "PYCR2-related microcephaly-progressive leukoencephalopathy"
},
{
"code" : "488197",
"display" : "Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome"
},
{
"code" : "488239",
"display" : "Acute macular neuroretinopathy"
},
{
"code" : "488594",
"display" : "Autosomal recessive spastic paraplegia type 76"
},
{
"code" : "488613",
"display" : "Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome"
},
{
"code" : "496790",
"display" : "Ocular anomalies-axonal neuropathy-developmental delay syndrome"
},
{
"code" : "497764",
"display" : "Spinocerebellar ataxia type 43"
},
{
"code" : "498488",
"display" : "Overgrowth syndrome with 2q37 translocation"
},
{
"code" : "498602",
"display" : "Sugarman brachydactyly"
},
{
"code" : "500159",
"display" : "Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom"
},
{
"code" : "500188",
"display" : "X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome"
},
{
"code" : "500533",
"display" : "Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome"
},
{
"code" : "500545",
"display" : "Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract"
},
{
"code" : "506075",
"display" : "Non-functioning neuroendocrine tumor of pancreas"
},
{
"code" : "506784",
"display" : "Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome"
},
{
"code" : "508093",
"display" : "MEPAN syndrome"
},
{
"code" : "508501",
"display" : "Oral-facial-digital syndrome with short stature and brachymesophalangy"
},
{
"code" : "508533",
"display" : "Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome"
},
{
"code" : "514352",
"display" : "Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome"
},
{
"code" : "519400",
"display" : "Peripapillary staphyloma"
},
{
"code" : "519402",
"display" : "Isolated megalopapilla"
},
{
"code" : "519406",
"display" : "Thygeson superficial punctate keratitis"
},
{
"code" : "519408",
"display" : "Mooren ulcer"
},
{
"code" : "521438",
"display" : "Congenital vertebral-cardiac-renal anomalies syndrome"
},
{
"code" : "522077",
"display" : "Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome"
},
{
"code" : "527450",
"display" : "Severe myopia-generalized joint laxity-short stature syndrome"
},
{
"code" : "527497",
"display" : "NKX6-2-related autosomal recessive hypomyelinating leukodystrophy"
},
{
"code" : "529665",
"display" : "Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome"
},
{
"code" : "529799",
"display" : "Acute bilirubin encephalopathy"
},
{
"code" : "529970",
"display" : "Male infertility due to acephalic spermatozoa"
},
{
"code" : "531151",
"display" : "9q21.13 microdeletion syndrome"
},
{
"code" : "536516",
"display" : "Myopathic Ehlers-Danlos syndrome"
},
{
"code" : "538863",
"display" : "Classic pyoderma gangrenosum"
},
{
"code" : "538931",
"display" : "X-linked lymphoproliferative disease due to SH2D1A deficiency"
},
{
"code" : "542643",
"display" : "Livedoid vasculopathy"
},
{
"code" : "544469",
"display" : "PRUNE1-related neurological syndrome"
},
{
"code" : "556030",
"display" : "Early-onset familial hypoaldosteronism"
},
{
"code" : "557064",
"display" : "Neonatal epileptic encephalopathy due to glutaminase deficiency"
},
{
"code" : "564003",
"display" : "Osteochondrosis of the metatarsal bone"
},
{
"code" : "157",
"display" : "Carnitine palmitoyltransferase II deficiency"
},
{
"code" : "158",
"display" : "Systemic primary carnitine deficiency"
},
{
"code" : "183",
"display" : "Eosinophilic granulomatosis with polyangiitis"
},
{
"code" : "192",
"display" : "Coffin-Lowry syndrome"
},
{
"code" : "201",
"display" : "Cowden syndrome"
},
{
"code" : "211",
"display" : "Familial cylindromatosis"
},
{
"code" : "218",
"display" : "Darier disease"
},
{
"code" : "231",
"display" : "Dracunculiasis"
},
{
"code" : "257",
"display" : "Epidermolysis bullosa simplex with muscular dystrophy"
},
{
"code" : "261",
"display" : "Emery-Dreifuss muscular dystrophy"
},
{
"code" : "269",
"display" : "Facioscapulohumeral dystrophy"
},
{
"code" : "274",
"display" : "Bernard-Soulier syndrome"
},
{
"code" : "284",
"display" : "Alveolar echinococcosis"
},
{
"code" : "286",
"display" : "Vascular Ehlers-Danlos syndrome"
},
{
"code" : "291",
"display" : "Congenital varicella syndrome"
},
{
"code" : "292",
"display" : "Congenital enterovirus infection"
},
{
"code" : "312",
"display" : "Autosomal dominant epidermolytic ichthyosis"
},
{
"code" : "314",
"display" : "Erythroderma desquamativum"
},
{
"code" : "329",
"display" : "Congenital factor XI deficiency"
},
{
"code" : "331",
"display" : "Congenital factor XIII deficiency"
},
{
"code" : "334",
"display" : "Familial atrial fibrillation"
},
{
"code" : "337",
"display" : "Fibrodysplasia ossificans progressiva"
},
{
"code" : "355",
"display" : "Gaucher disease"
},
{
"code" : "373",
"display" : "Simpson-Golabi-Behmel syndrome"
},
{
"code" : "375",
"display" : "Anti-glomerular basement membrane disease"
},
{
"code" : "376",
"display" : "Gordon syndrome"
},
{
"code" : "390",
"display" : "Histoplasmosis"
},
{
"code" : "423",
"display" : "Malignant hyperthermia of anesthesia"
},
{
"code" : "424",
"display" : "Familial hyperthyroidism due to mutations in TSH receptor"
},
{
"code" : "428",
"display" : "Autosomal dominant hypocalcemia"
},
{
"code" : "449",
"display" : "Hepatoblastoma"
},
{
"code" : "464",
"display" : "Incontinentia pigmenti"
},
{
"code" : "470",
"display" : "Lysinuric protein intolerance"
},
{
"code" : "472",
"display" : "Isosporiasis"
},
{
"code" : "495",
"display" : "Transgrediens et progrediens palmoplantar keratoderma"
},
{
"code" : "499",
"display" : "Kerion celsi"
},
{
"code" : "501",
"display" : "Lafora disease"
},
{
"code" : "512",
"display" : "Metachromatic leukodystrophy"
},
{
"code" : "520",
"display" : "Acute promyelocytic leukemia"
},
{
"code" : "524",
"display" : "Li-Fraumeni syndrome"
},
{
"code" : "528",
"display" : "Congenital generalized lipodystrophy"
},
{
"code" : "536",
"display" : "Systemic lupus erythematosus"
},
{
"code" : "540",
"display" : "Familial hemophagocytic lymphohistiocytosis"
},
{
"code" : "548",
"display" : "Leprosy"
},
{
"code" : "556",
"display" : "Malakoplakia"
},
{
"code" : "564",
"display" : "Meckel syndrome"
},
{
"code" : "565",
"display" : "Menkes disease"
},
{
"code" : "580",
"display" : "Mucopolysaccharidosis type 2"
},
{
"code" : "583",
"display" : "Mucopolysaccharidosis type 6"
},
{
"code" : "585",
"display" : "Multiple sulfatase deficiency"
},
{
"code" : "591",
"display" : "Furuncular myiasis"
},
{
"code" : "626",
"display" : "Large congenital melanocytic nevus"
},
{
"code" : "628",
"display" : "Diastrophic dysplasia"
},
{
"code" : "639",
"display" : "Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG"
},
{
"code" : "660",
"display" : "Omphalocele"
},
{
"code" : "672",
"display" : "Pallister-Hall syndrome"
},
{
"code" : "678",
"display" : "Papillon-Lefèvre syndrome"
},
{
"code" : "682",
"display" : "Hyperkalemic periodic paralysis"
},
{
"code" : "702",
"display" : "Pelizaeus-Merzbacher disease"
},
{
"code" : "708",
"display" : "Peters anomaly"
},
{
"code" : "715",
"display" : "Glycogen storage disease due to muscle phosphorylase kinase deficiency"
},
{
"code" : "725",
"display" : "Continuous spikes and waves during sleep"
},
{
"code" : "730",
"display" : "Autosomal dominant polycystic kidney disease"
},
{
"code" : "740",
"display" : "Hutchinson-Gilford progeria syndrome"
},
{
"code" : "745",
"display" : "Severe hereditary thrombophilia due to congenital protein C deficiency"
},
{
"code" : "752",
"display" : "46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency"
},
{
"code" : "756",
"display" : "Pseudohypoaldosteronism type 1"
},
{
"code" : "758",
"display" : "Pseudoxanthoma elasticum"
},
{
"code" : "761",
"display" : "Immunoglobulin A vasculitis"
},
{
"code" : "765",
"display" : "Pyruvate dehydrogenase deficiency"
},
{
"code" : "767",
"display" : "Polyarteritis nodosa"
},
{
"code" : "774",
"display" : "Hereditary hemorrhagic telangiectasia"
},
{
"code" : "776",
"display" : "Lujan-Fryns syndrome"
},
{
"code" : "565624",
"display" : "Combined oxidative phosphorylation defect type 39"
},
{
"code" : "565788",
"display" : "Infantile inflammatory bowel disease with neurological involvement"
},
{
"code" : "565909",
"display" : "Calpain-3-related limb-girdle muscular dystrophy D4"
},
{
"code" : "566192",
"display" : "Congenital autosomal recessive small-platelet thrombocytopenia"
},
{
"code" : "568051",
"display" : "GJC2-related late-onset primary lymphedema"
},
{
"code" : "569164",
"display" : "Angiomatoid fibrous histiocytoma"
},
{
"code" : "569274",
"display" : "Multiple mitochondrial dysfunctions syndrome type 5"
},
{
"code" : "569816",
"display" : "CELSR1-related late-onset primary lymphedema"
},
{
"code" : "570491",
"display" : "QRSL1-related combined oxidative phosphorylation defect"
},
{
"code" : "572768",
"display" : "Microcephaly-micromelia syndrome"
},
{
"code" : "572773",
"display" : "Microcephaly-short stature-limb abnormalities syndrome"
},
{
"code" : "576349",
"display" : "NLRC4-related familial cold autoinflammatory syndrome"
},
{
"code" : "583856",
"display" : "Isolated splenic vein thrombosis"
},
{
"code" : "585929",
"display" : "B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)"
},
{
"code" : "585948",
"display" : "B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)"
},
{
"code" : "589608",
"display" : "Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies"
},
{
"code" : "589618",
"display" : "Dystonia 28"
},
{
"code" : "589824",
"display" : "Childhood-onset Steinert myotonic dystrophy"
},
{
"code" : "589833",
"display" : "Late-onset Steinert myotonic dystrophy"
},
{
"code" : "589856",
"display" : "Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome"
},
{
"code" : "592574",
"display" : "Menke-Hennekam syndrome"
},
{
"code" : "592869",
"display" : "Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies"
},
{
"code" : "592885",
"display" : "Isolated optic neuritis without anti-MOG antibodies"
},
{
"code" : "592888",
"display" : "Isolated optic neuritis with anti-MOG antibodies"
},
{
"code" : "596008",
"display" : "Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis"
},
{
"code" : "596753",
"display" : "VEXAS syndrome"
},
{
"code" : "597201",
"display" : "TRIM22-related inflammatory bowel disease"
},
{
"code" : "599373",
"display" : "STXBP1-related encephalopathy"
},
{
"code" : "599495",
"display" : "Acquired factor VII deficiency"
},
{
"code" : "600975",
"display" : "Non-syndromic anorectal malformation with rectourethral fistula, prostatic type"
},
{
"code" : "601033",
"display" : "Non-syndromic anorectal malformation with H-type fistula"
},
{
"code" : "603494",
"display" : "Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome"
},
{
"code" : "611247",
"display" : "Pontocerebellar hypoplasia type 11"
},
{
"code" : "615986",
"display" : "Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster"
},
{
"code" : "617408",
"display" : "Classic eosinophilic pustular folliculitis"
},
{
"code" : "617440",
"display" : "Painful legs and moving toes syndrome"
},
{
"code" : "618891",
"display" : "Chronic neurovisceral acid sphingomyelinase deficiency"
},
{
"code" : "619953",
"display" : "Familial hyperinflammatory lymphoproliferative immunodeficiency"
},
{
"code" : "620139",
"display" : "Non-syndromic unifrontosphenoidal craniosynostosis"
},
{
"code" : "622934",
"display" : "SBDS-related severe neonatal spondylometaphyseal dysplasia"
},
{
"code" : "623789",
"display" : "Body integrity dysphoria"
},
{
"code" : "631079",
"display" : "Autosomal recessive spastic paraplegia type 84"
},
{
"code" : "631103",
"display" : "Spinocerebellar ataxia type 48"
},
{
"code" : "633004",
"display" : "KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome"
},
{
"code" : "633124",
"display" : "Invasive scopulariopsis infection"
},
{
"code" : "636950",
"display" : "Glaucomatocyclitic crisis disease"
},
{
"code" : "636955",
"display" : "Endemic pemphigus foliaceus"
},
{
"code" : "637013",
"display" : "SMARCA2-related blepharophimosis-intellectual disability syndrome"
},
{
"code" : "641372",
"display" : "B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)"
},
{
"code" : "642945",
"display" : "Perrault syndrome type 1"
},
{
"code" : "645285",
"display" : "Chaotic conus spinal cord lipoma"
},
{
"code" : "645337",
"display" : "Terminal myelocystocele"
},
{
"code" : "646278",
"display" : "CDK13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome"
},
{
"code" : "647794",
"display" : "Isolated persistent urogenital sinus"
},
{
"code" : "647799",
"display" : "MYT1L-related developmental delay-intellectual disability-obesity syndrome"
},
{
"code" : "648665",
"display" : "Infectious scleritis"
},
{
"code" : "650082",
"display" : "Secondary central precocious puberty in female"
},
{
"code" : "650092",
"display" : "Secondary central precocious puberty in male"
},
{
"code" : "810",
"display" : "Shigellosis"
},
{
"code" : "831",
"display" : "Congenital cervical spinal stenosis"
},
{
"code" : "844",
"display" : "Lown-Ganong-Levine syndrome"
},
{
"code" : "846",
"display" : "Alpha-thalassemia"
},
{
"code" : "851",
"display" : "Paris-Trousseau thrombocytopenia"
},
{
"code" : "857",
"display" : "Townes-Brocks syndrome"
},
{
"code" : "858",
"display" : "Congenital toxoplasmosis"
},
{
"code" : "884",
"display" : "Tetrasomy 12p"
},
{
"code" : "896",
"display" : "Waardenburg syndrome type 3"
},
{
"code" : "902",
"display" : "Werner syndrome"
},
{
"code" : "904",
"display" : "Williams syndrome"
},
{
"code" : "912",
"display" : "Zellweger syndrome"
},
{
"code" : "913",
"display" : "Zollinger-Ellison syndrome"
},
{
"code" : "926",
"display" : "Acatalasemia"
},
{
"code" : "929",
"display" : "Achalasia-microcephaly syndrome"
},
{
"code" : "930",
"display" : "Idiopathic achalasia"
},
{
"code" : "931",
"display" : "Acheiropodia"
},
{
"code" : "935",
"display" : "Short-limb skeletal dysplasia with severe combined immunodeficiency"
},
{
"code" : "943",
"display" : "Malonic aciduria"
},
{
"code" : "976",
"display" : "Adenine phosphoribosyltransferase deficiency"
},
{
"code" : "981",
"display" : "Internal carotid absence"
},
{
"code" : "1027",
"display" : "Autosomal recessive amelia"
},
{
"code" : "1031",
"display" : "Enamel-renal syndrome"
},
{
"code" : "1048",
"display" : "Isolated anencephaly/exencephaly"
},
{
"code" : "1062",
"display" : "Hereditary neurocutaneous malformation"
},
{
"code" : "1069",
"display" : "Aniridia-absent patella syndrome"
},
{
"code" : "1101",
"display" : "Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome"
},
{
"code" : "1104",
"display" : "Anophthalmia plus syndrome"
},
{
"code" : "1120",
"display" : "Lung agenesis-heart defect-thumb anomalies syndrome"
},
{
"code" : "1129",
"display" : "Arachnodactyly-abnormal ossification-intellectual disability syndrome"
},
{
"code" : "1131",
"display" : "X-linked mandibulofacial dysostosis"
},
{
"code" : "1159",
"display" : "Progressive pseudorheumatoid arthropathy of childhood"
},
{
"code" : "1179",
"display" : "Benign paroxysmal tonic upgaze of childhood with ataxia"
},
{
"code" : "1184",
"display" : "Ataxia-photosensitivity-short stature syndrome"
},
{
"code" : "1185",
"display" : "Spinocerebellar ataxia-dysmorphism syndrome"
},
{
"code" : "1186",
"display" : "Infantile-onset spinocerebellar ataxia"
},
{
"code" : "1208",
"display" : "Pulmonary atresia-intact ventricular septum syndrome"
},
{
"code" : "1215",
"display" : "Autosomal dominant optic atrophy plus syndrome"
},
{
"code" : "1234",
"display" : "Bartsocas-Papas syndrome"
},
{
"code" : "1275",
"display" : "Brachydactyly-elbow wrist dysplasia syndrome"
},
{
"code" : "1299",
"display" : "Branchioskeletogenital syndrome"
},
{
"code" : "1310",
"display" : "Caffey disease"
},
{
"code" : "1325",
"display" : "Camptodactyly-taurinuria syndrome"
},
{
"code" : "1326",
"display" : "Camptodactyly syndrome, Guadalajara type 2"
},
{
"code" : "1334",
"display" : "Chronic mucocutaneous candidiasis"
},
{
"code" : "1336",
"display" : "Hyperkeratosis-hyperpigmentation syndrome"
},
{
"code" : "1349",
"display" : "Mitochondrial DNA-related cardiomyopathy and hearing loss"
},
{
"code" : "1350",
"display" : "Heart-hand syndrome type 2"
},
{
"code" : "1359",
"display" : "Carney complex"
},
{
"code" : "1380",
"display" : "Cataract-nephropathy-encephalopathy syndrome"
},
{
"code" : "1387",
"display" : "Cataract-intellectual disability-hypogonadism syndrome"
},
{
"code" : "1389",
"display" : "Cortical blindness-intellectual disability-polydactyly syndrome"
},
{
"code" : "1427",
"display" : "Otospondylomegaepiphyseal dysplasia"
},
{
"code" : "1429",
"display" : "Benign hereditary chorea"
},
{
"code" : "1437",
"display" : "Ring chromosome 1 syndrome"
},
{
"code" : "1443",
"display" : "Ring chromosome 19 syndrome"
},
{
"code" : "1450",
"display" : "Ring chromosome 8 syndrome"
},
{
"code" : "1485",
"display" : "Arthrogryposis-hyperkeratosis syndrome, lethal form"
},
{
"code" : "1512",
"display" : "Crane-Heise syndrome"
},
{
"code" : "1516",
"display" : "Non-syndromic bilambdoid and sagittal craniosynostosis"
},
{
"code" : "1529",
"display" : "Craniofacial-deafness-hand syndrome"
},
{
"code" : "1538",
"display" : "Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome"
},
{
"code" : "1540",
"display" : "Jackson-Weiss syndrome"
},
{
"code" : "1561",
"display" : "Fatal infantile cytochrome C oxidase deficiency"
},
{
"code" : "1573",
"display" : "Hypotrichosis with juvenile macular degeneration"
},
{
"code" : "1598",
"display" : "Monosomy 18p"
},
{
"code" : "1627",
"display" : "Deletion 5q35"
},
{
"code" : "1647",
"display" : "Oculocerebrocutaneous syndrome"
},
{
"code" : "1652",
"display" : "Dent disease"
},
{
"code" : "1672",
"display" : "Diencephalic syndrome"
},
{
"code" : "1682",
"display" : "Arterial dissection-lentiginosis syndrome"
},
{
"code" : "1764",
"display" : "Familial dysautonomia"
},
{
"code" : "1775",
"display" : "Dyskeratosis congenita"
},
{
"code" : "1777",
"display" : "Temtamy syndrome"
},
{
"code" : "1788",
"display" : "Acrofacial dysostosis, RodrÃguez type"
},
{
"code" : "1795",
"display" : "Peripheral dysostosis"
},
{
"code" : "1801",
"display" : "Kyphomelic dysplasia"
},
{
"code" : "1818",
"display" : "Ectodermal dysplasia, trichoodontoonychial type"
},
{
"code" : "1836",
"display" : "Mesomelic dysplasia, Kantaputra type"
},
{
"code" : "1852",
"display" : "X-linked retinal dysplasia"
},
{
"code" : "1858",
"display" : "Skeletal dysplasia-epilepsy-short stature syndrome"
},
{
"code" : "1895",
"display" : "Edinburgh malformation syndrome"
},
{
"code" : "1897",
"display" : "EEM syndrome"
},
{
"code" : "1902",
"display" : "Ehrlichiosis"
},
{
"code" : "1926",
"display" : "Diabetic embryopathy"
},
{
"code" : "1948",
"display" : "Epilepsy-microcephaly-skeletal dysplasia syndrome"
},
{
"code" : "1955",
"display" : "Spinocerebellar ataxia type 34"
},
{
"code" : "1968",
"display" : "Flat face-microstomia-ear anomaly syndrome"
},
{
"code" : "1988",
"display" : "Femoral-facial syndrome"
},
{
"code" : "2004",
"display" : "Laryngotracheoesophageal cleft"
},
{
"code" : "2013",
"display" : "Cleft palate-large ears-small head syndrome"
},
{
"code" : "2019",
"display" : "Femur-fibula-ulna complex"
},
{
"code" : "2026",
"display" : "Gingival fibromatosis-hypertrichosis syndrome"
},
{
"code" : "2036",
"display" : "Scalp-ear-nipple syndrome"
},
{
"code" : "2040",
"display" : "Congenital respiratory-biliary fistula"
},
{
"code" : "2070",
"display" : "Eosinophilic gastroenteritis"
},
{
"code" : "2085",
"display" : "Glaucoma-sleep apnea syndrome"
},
{
"code" : "2089",
"display" : "Glycogen storage disease due to hepatic glycogen synthase deficiency"
},
{
"code" : "2104",
"display" : "Dysmorphism-pectus carinatum-joint laxity syndrome"
},
{
"code" : "2107",
"display" : "Hall-Riggs syndrome"
},
{
"code" : "2126",
"display" : "Solitary fibrous tumor"
},
{
"code" : "2133",
"display" : "Hemoglobin E disease"
},
{
"code" : "2166",
"display" : "Holoprosencephaly-postaxial polydactyly syndrome"
},
{
"code" : "2170",
"display" : "Methylcobalamin deficiency type cblG"
},
{
"code" : "2182",
"display" : "Hydrocephalus with stenosis of the aqueduct of Sylvius"
},
{
"code" : "2189",
"display" : "Hydrolethalus"
},
{
"code" : "2194",
"display" : "Anti-HLA hyperimmunization"
},
{
"code" : "2199",
"display" : "Epidermolytic palmoplantar keratoderma"
},
{
"code" : "2202",
"display" : "Palmoplantar keratoderma-deafness syndrome"
},
{
"code" : "2206",
"display" : "Ankylosing vertebral hyperostosis with tylosis"
},
{
"code" : "2209",
"display" : "Maternal phenylketonuria"
},
{
"code" : "2213",
"display" : "Hypertelorism-microtia-facial clefting syndrome"
},
{
"code" : "2271",
"display" : "Congenital ichthyosis-microcephalus-tetraplegia syndrome"
},
{
"code" : "2316",
"display" : "Johnson neuroectodermal syndrome"
},
{
"code" : "2325",
"display" : "Epidermolysis bullosa simplex with anodontia/hypodontia"
},
{
"code" : "2328",
"display" : "Kapur-Toriello syndrome"
},
{
"code" : "2332",
"display" : "KBG syndrome"
},
{
"code" : "2339",
"display" : "Keratosis follicularis-dwarfism-cerebral atrophy syndrome"
},
{
"code" : "2364",
"display" : "Glycogen storage disease due to lactate dehydrogenase deficiency"
},
{
"code" : "2375",
"display" : "Laryngeal abductor paralysis-intellectual disability syndrome"
},
{
"code" : "2378",
"display" : "Laurin-Sandrow syndrome"
},
{
"code" : "2388",
"display" : "Choreoacanthocytosis"
},
{
"code" : "2400",
"display" : "Peripheral motor neuropathy-dysautonomia syndrome"
},
{
"code" : "2406",
"display" : "Locked-in syndrome"
},
{
"code" : "2408",
"display" : "Lowe-Kohn-Cohen syndrome"
},
{
"code" : "2410",
"display" : "Hypergonadotropic hypogonadism-cataract syndrome"
},
{
"code" : "2437",
"display" : "Czeizel-Losonci syndrome"
},
{
"code" : "2456",
"display" : "Familial supernumerary nipples"
},
{
"code" : "2460",
"display" : "Van den Ende-Gupta syndrome"
},
{
"code" : "2463",
"display" : "Marfanoid habitus-autosomal recessive intellectual disability syndrome"
},
{
"code" : "2479",
"display" : "Megalocornea-intellectual disability syndrome"
},
{
"code" : "2508",
"display" : "Corpus callosum agenesis-abnormal genitalia syndrome"
},
{
"code" : "2510",
"display" : "Micro syndrome"
},
{
"code" : "2511",
"display" : "Microbrachycephaly-ptosis-cleft lip syndrome"
},
{
"code" : "2557",
"display" : "Mietens syndrome"
},
{
"code" : "2561",
"display" : "Pyramidal molars-abnormal upper lip syndrome"
},
{
"code" : "2570",
"display" : "Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome"
},
{
"code" : "2579",
"display" : "Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome"
},
{
"code" : "2588",
"display" : "Myhre syndrome"
},
{
"code" : "2631",
"display" : "Mesomelic dwarfism-cleft palate-camptodactyly syndrome"
},
{
"code" : "2636",
"display" : "Microcephalic osteodysplastic primordial dwarfism types I and III"
},
{
"code" : "2668",
"display" : "Nephropathy-deafness-hyperparathyroidism syndrome"
},
{
"code" : "2690",
"display" : "Neutropenia-monocytopenia-deafness syndrome"
},
{
"code" : "2728",
"display" : "Blepharophimosis-intellectual disability syndrome, Ohdo type"
},
{
"code" : "2760",
"display" : "OSLAM syndrome"
},
{
"code" : "2762",
"display" : "Progressive osseous heteroplasia"
},
{
"code" : "2792",
"display" : "Otofaciocervical syndrome"
},
{
"code" : "2839",
"display" : "Pelvis-shoulder dysplasia"
},
{
"code" : "2848",
"display" : "Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome"
},
{
"code" : "2869",
"display" : "Peutz-Jeghers syndrome"
},
{
"code" : "2874",
"display" : "Phakomatosis pigmentokeratotica"
},
{
"code" : "2884",
"display" : "Piebaldism"
},
{
"code" : "2885",
"display" : "Piebald trait-neurologic defects syndrome"
},
{
"code" : "2897",
"display" : "Pityriasis rubra pilaris"
},
{
"code" : "2900",
"display" : "Leri pleonosteosis"
},
{
"code" : "2929",
"display" : "Juvenile polyposis syndrome"
},
{
"code" : "2932",
"display" : "Chronic inflammatory demyelinating polyneuropathy"
},
{
"code" : "2942",
"display" : "Postpoliomyelitis syndrome"
},
{
"code" : "2963",
"display" : "Progeroid syndrome, Petty type"
},
{
"code" : "2980",
"display" : "Acrootoocular syndrome"
},
{
"code" : "2987",
"display" : "Antecubital pterygium syndrome"
},
{
"code" : "2995",
"display" : "Baraitser-Winter cerebrofrontofacial syndrome"
},
{
"code" : "3002",
"display" : "Immune thrombocytopenia"
},
{
"code" : "3016",
"display" : "Absent radius-anogenital anomalies syndrome"
},
{
"code" : "3034",
"display" : "Delayed membranous cranial ossification"
},
{
"code" : "3055",
"display" : "X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome"
},
{
"code" : "3068",
"display" : "Intellectual disability-myopathy-short stature-endocrine defect syndrome"
},
{
"code" : "3071",
"display" : "Costello syndrome"
},
{
"code" : "3082",
"display" : "Intellectual disability-polydactyly-uncombable hair syndrome"
},
{
"code" : "3098",
"display" : "Rhizomelic syndrome, Urbach type"
},
{
"code" : "3109",
"display" : "Mayer-Rokitansky-Küster-Hauser syndrome"
},
{
"code" : "3145",
"display" : "Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome"
},
{
"code" : "3177",
"display" : "Spinocerebellar degeneration-corneal dystrophy syndrome"
},
{
"code" : "3186",
"display" : "Holoprosencephaly-radial heart renal anomalies syndrome"
},
{
"code" : "3198",
"display" : "Stiff person spectrum disorder"
},
{
"code" : "3214",
"display" : "Deaf blind hypopigmentation syndrome, Yemenite type"
},
{
"code" : "3224",
"display" : "Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome"
},
{
"code" : "3225",
"display" : "Hearing loss-familial salivary gland insensitivity to aldosterone syndrome"
},
{
"code" : "3236",
"display" : "Conductive deafness-ptosis-skeletal anomalies syndrome"
},
{
"code" : "3250",
"display" : "Proximal symphalangism"
},
{
"code" : "3258",
"display" : "Cenani-Lenz syndrome"
},
{
"code" : "3260",
"display" : "Idiopathic hypereosinophilic syndrome"
},
{
"code" : "3287",
"display" : "Takayasu arteritis"
},
{
"code" : "3303",
"display" : "Tetralogy of Fallot"
},
{
"code" : "3305",
"display" : "Tetraploidy"
},
{
"code" : "3314",
"display" : "Thiemann disease, familial form"
},
{
"code" : "3319",
"display" : "Congenital amegakaryocytic thrombocytopenia"
},
{
"code" : "3343",
"display" : "Toxocariasis"
},
{
"code" : "3350",
"display" : "Tremor-nystagmus-duodenal ulcer syndrome"
},
{
"code" : "3361",
"display" : "Trichodysplasia-xeroderma syndrome"
},
{
"code" : "3376",
"display" : "Triploidy"
},
{
"code" : "3377",
"display" : "Trismus-pseudocamptodactyly syndrome"
},
{
"code" : "3379",
"display" : "Distal duplication 17q"
},
{
"code" : "3380",
"display" : "Trisomy 18"
},
{
"code" : "3387",
"display" : "Isolated anterior cervical hypertrichosis"
},
{
"code" : "3408",
"display" : "Upington disease"
},
{
"code" : "3412",
"display" : "VACTERL with hydrocephalus"
},
{
"code" : "3424",
"display" : "Velo-facial-skeletal syndrome"
},
{
"code" : "3427",
"display" : "Double outlet left ventricle"
},
{
"code" : "3440",
"display" : "Waardenburg syndrome"
},
{
"code" : "3449",
"display" : "Weill-Marchesani syndrome"
},
{
"code" : "3452",
"display" : "Whipple disease"
},
{
"code" : "3459",
"display" : "Wilson-Turner syndrome"
},
{
"code" : "3464",
"display" : "Woodhouse-Sakati syndrome"
},
{
"code" : "29072",
"display" : "Hereditary pheochromocytoma-paraganglioma"
},
{
"code" : "30925",
"display" : "Hereditary central diabetes insipidus"
},
{
"code" : "31824",
"display" : "Colchicine poisoning"
},
{
"code" : "31827",
"display" : "Paraquat poisoning"
},
{
"code" : "33001",
"display" : "Lymphedema-distichiasis syndrome"
},
{
"code" : "33208",
"display" : "Idiopathic hypersomnia"
},
{
"code" : "33475",
"display" : "Meningococcal meningitis"
},
{
"code" : "33577",
"display" : "Nodular non-suppurative panniculitis"
},
{
"code" : "35062",
"display" : "Severe disseminated cytomegalovirus infection in immunocompetent patients"
},
{
"code" : "35889",
"display" : "Acute opioid intoxication"
},
{
"code" : "36237",
"display" : "Bullous impetigo"
},
{
"code" : "36273",
"display" : "Gastric linitis plastica"
},
{
"code" : "36383",
"display" : "COL4A1-related familial vascular leukoencephalopathy"
},
{
"code" : "37042",
"display" : "Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome"
},
{
"code" : "37202",
"display" : "Interstitial cystitis"
},
{
"code" : "37553",
"display" : "Andersen-Tawil syndrome"
},
{
"code" : "37612",
"display" : "Episodic ataxia type 1"
},
{
"code" : "42062",
"display" : "Iminoglycinuria"
},
{
"code" : "43119",
"display" : "Acute poisoning by drugs with membrane-stabilizing effect"
},
{
"code" : "45358",
"display" : "Congenital fibrosis of extraocular muscles"
},
{
"code" : "46724",
"display" : "Cerebral arteriovenous malformation"
},
{
"code" : "47044",
"display" : "Hereditary papillary renal cell carcinoma"
},
{
"code" : "48372",
"display" : "Nodular regenerative hyperplasia of the liver"
},
{
"code" : "48652",
"display" : "Monosomy 22q13.3"
},
{
"code" : "50814",
"display" : "Craniolenticulosutural dysplasia"
},
{
"code" : "50817",
"display" : "Duane anomaly-myopathy-scoliosis syndrome"
},
{
"code" : "50943",
"display" : "Keratolytic winter erythema"
},
{
"code" : "51636",
"display" : "WHIM syndrome"
},
{
"code" : "52430",
"display" : "Inclusion body myopathy with Paget disease of bone and frontotemporal dementia"
},
{
"code" : "52994",
"display" : "Orbital leiomyoma"
},
{
"code" : "53351",
"display" : "X-linked dystonia-parkinsonism"
},
{
"code" : "53372",
"display" : "Hereditary geniospasm"
},
{
"code" : "53540",
"display" : "Goldmann-Favre syndrome"
},
{
"code" : "54272",
"display" : "Hepatocellular adenoma"
},
{
"code" : "54370",
"display" : "Primary membranoproliferative glomerulonephritis"
},
{
"code" : "57196",
"display" : "Medial condensing osteitis of the clavicle"
},
{
"code" : "59315",
"display" : "Rhombencephalosynapsis"
},
{
"code" : "64280",
"display" : "Childhood absence epilepsy"
},
{
"code" : "64748",
"display" : "Dejerine-Sottas syndrome"
},
{
"code" : "65287",
"display" : "Beta-ureidopropionase deficiency"
},
{
"code" : "66518",
"display" : "Short fifth metacarpals-insulin resistance syndrome"
},
{
"code" : "66661",
"display" : "Mast cell sarcoma"
},
{
"code" : "67036",
"display" : "Autosomal dominant optic atrophy and cataract"
},
{
"code" : "67044",
"display" : "Thrombocytopenia with congenital dyserythropoietic anemia"
},
{
"code" : "67045",
"display" : "X-linked intellectual disability with isolated growth hormone deficiency"
},
{
"code" : "69082",
"display" : "Odonto-tricho-ungual-digito-palmar syndrome"
},
{
"code" : "69737",
"display" : "Bosley-Salih-Alorainy syndrome"
},
{
"code" : "69739",
"display" : "Athabaskan brainstem dysgenesis syndrome"
},
{
"code" : "70587",
"display" : "Infant acute respiratory distress syndrome"
},
{
"code" : "73256",
"display" : "Central neurocytoma"
},
{
"code" : "75382",
"display" : "Oguchi disease"
},
{
"code" : "75496",
"display" : "B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome"
},
{
"code" : "75497",
"display" : "X-linked Ehlers-Danlos syndrome"
},
{
"code" : "75564",
"display" : "Acquired idiopathic sideroblastic anemia"
},
{
"code" : "75858",
"display" : "MORM syndrome"
},
{
"code" : "79085",
"display" : "AKT2-related familial partial lipodystrophy"
},
{
"code" : "79098",
"display" : "Sympathetic ophthalmia"
},
{
"code" : "79100",
"display" : "Atrophoderma vermiculata"
},
{
"code" : "79139",
"display" : "Japanese encephalitis"
},
{
"code" : "79150",
"display" : "Linear and whorled nevoid hypermelanosis"
},
{
"code" : "79234",
"display" : "Crigler-Najjar syndrome type 1"
},
{
"code" : "79276",
"display" : "Acute intermittent porphyria"
},
{
"code" : "79281",
"display" : "Alpha-N-acetylgalactosaminidase deficiency type 3"
},
{
"code" : "79330",
"display" : "MOGS-CDG"
},
{
"code" : "79345",
"display" : "Brachytelephalangic chondrodysplasia punctata"
},
{
"code" : "79346",
"display" : "Chondrodysplasia punctata, tibial-metacarpal type"
},
{
"code" : "79347",
"display" : "Chondrodysplasia punctata, Toriello type"
},
{
"code" : "79401",
"display" : "PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement"
},
{
"code" : "79410",
"display" : "Localized dystrophic epidermolysis bullosa, pretibial form"
},
{
"code" : "79430",
"display" : "Hermansky-Pudlak syndrome"
},
{
"code" : "79468",
"display" : "Acanthokeratolytic verrucous nevus"
},
{
"code" : "79479",
"display" : "Pemphigus vegetans"
},
{
"code" : "79480",
"display" : "Pemphigus erythematosus"
},
{
"code" : "79490",
"display" : "Microcystic lymphatic malformation"
},
{
"code" : "79500",
"display" : "DOORS syndrome"
},
{
"code" : "79503",
"display" : "Ichthyosis hystrix of Curth-Macklin"
},
{
"code" : "79507",
"display" : "Hypotonia-failure to thrive-microcephaly syndrome"
},
{
"code" : "83311",
"display" : "Rocky Mountain spotted fever"
},
{
"code" : "83312",
"display" : "Rickettsialpox"
},
{
"code" : "83465",
"display" : "Narcolepsy type 2"
},
{
"code" : "83617",
"display" : "Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome"
},
{
"code" : "84064",
"display" : "Syndromic diarrhea"
},
{
"code" : "84093",
"display" : "Hereditary thermosensitive neuropathy"
},
{
"code" : "85110",
"display" : "Familial encephalopathy with neuroserpin inclusion bodies"
},
{
"code" : "85128",
"display" : "Bothnia retinal dystrophy"
},
{
"code" : "85167",
"display" : "Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome"
},
{
"code" : "85170",
"display" : "Mesomelic dysplasia, Savarirayan type"
},
{
"code" : "85182",
"display" : "Diaphyseal medullary stenosis-bone malignancy syndrome"
},
{
"code" : "85285",
"display" : "X-linked intellectual disability, Schimke type"
},
{
"code" : "85288",
"display" : "X-linked intellectual disability, Stocco Dos Santos type"
},
{
"code" : "85290",
"display" : "X-linked intellectual disability, Wilson type"
},
{
"code" : "85293",
"display" : "X-linked intellectual disability, Cabezas type"
},
{
"code" : "85297",
"display" : "X-linked spinocerebellar ataxia type 3"
},
{
"code" : "85324",
"display" : "X-linked intellectual disability, Shrimpton type"
},
{
"code" : "85435",
"display" : "Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis"
},
{
"code" : "86861",
"display" : "Non-amyloid monoclonal immunoglobulin deposition disease"
},
{
"code" : "86869",
"display" : "Lymphomatoid granulomatosis"
},
{
"code" : "86882",
"display" : "Hepatosplenic T-cell lymphoma"
},
{
"code" : "86900",
"display" : "Interdigitating dendritic cell sarcoma"
},
{
"code" : "86911",
"display" : "Epilepsy with myoclonic absences"
},
{
"code" : "86923",
"display" : "Hereditary palmoplantar keratoderma, Gamborg-Nielsen type"
},
{
"code" : "88660",
"display" : "Hypertension due to gain-of-function mutations in the mineralocorticoid receptor"
},
{
"code" : "89937",
"display" : "Autosomal dominant hypophosphatemic rickets"
},
{
"code" : "90000",
"display" : "Erythema elevatum diutinum"
},
{
"code" : "90033",
"display" : "Autoimmune hemolytic anemia, warm type"
},
{
"code" : "90039",
"display" : "Hemoglobin D disease"
},
{
"code" : "90052",
"display" : "Recurrent hepatitis C virus induced liver disease in liver transplant recipients"
},
{
"code" : "90159",
"display" : "Panniculitis-induced localized lipodystrophy"
},
{
"code" : "90280",
"display" : "Chilblain lupus"
},
{
"code" : "90322",
"display" : "Cockayne syndrome type 2"
},
{
"code" : "90368",
"display" : "Hypotrichosis simplex of the scalp"
},
{
"code" : "90791",
"display" : "Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency"
},
{
"code" : "90795",
"display" : "Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency"
},
{
"code" : "91349",
"display" : "Non-functioning pituitary adenoma"
},
{
"code" : "91387",
"display" : "Familial thoracic aortic aneurysm and aortic dissection"
},
{
"code" : "91413",
"display" : "Congenital Horner syndrome"
},
{
"code" : "93111",
"display" : "HNF1B-related autosomal dominant tubulointerstitial kidney disease"
},
{
"code" : "93126",
"display" : "Pauci-immune glomerulonephritis"
},
{
"code" : "93177",
"display" : "Congenital bilateral megacalycosis"
},
{
"code" : "93308",
"display" : "Multiple epiphyseal dysplasia type 1"
},
{
"code" : "93311",
"display" : "Multiple epiphyseal dysplasia type 5"
},
{
"code" : "93321",
"display" : "Radial hemimelia"
},
{
"code" : "93324",
"display" : "Autosomal recessive Kenny-Caffey syndrome"
},
{
"code" : "93328",
"display" : "Autosomal dominant omodysplasia"
},
{
"code" : "93335",
"display" : "Postaxial polydactyly type B"
},
{
"code" : "93357",
"display" : "SPONASTRIME dysplasia"
},
{
"code" : "93360",
"display" : "Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type"
},
{
"code" : "93473",
"display" : "Hurler syndrome"
},
{
"code" : "93554",
"display" : "Mixed cryoglobulinemia type II"
},
{
"code" : "93569",
"display" : "Polymyalgia rheumatica"
},
{
"code" : "93581",
"display" : "Atypical hemolytic uremic syndrome with anti-factor H antibodies"
},
{
"code" : "93599",
"display" : "Primary hyperoxaluria type 2"
},
{
"code" : "93950",
"display" : "X-linked intellectual disability, Sutherland-Haan type"
},
{
"code" : "94065",
"display" : "15q24 microdeletion syndrome"
},
{
"code" : "95427",
"display" : "Secondary short bowel syndrome"
},
{
"code" : "95434",
"display" : "Autosomal recessive cerebellar ataxia-movement disorder syndrome"
},
{
"code" : "95455",
"display" : "Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum"
},
{
"code" : "95459",
"display" : "Congenital tricuspid stenosis"
},
{
"code" : "95712",
"display" : "Thyroid ectopia"
},
{
"code" : "95719",
"display" : "Thyroid hemiagenesis"
},
{
"code" : "95720",
"display" : "Thyroid hypoplasia"
},
{
"code" : "96068",
"display" : "Mosaic trisomy 22"
},
{
"code" : "96069",
"display" : "Distal duplication 1p36"
},
{
"code" : "96106",
"display" : "Distal duplication 16q"
},
{
"code" : "96109",
"display" : "Distal duplication 22q"
},
{
"code" : "96125",
"display" : "Distal deletion 6p"
},
{
"code" : "96172",
"display" : "Ring chromosome 3 syndrome"
},
{
"code" : "96175",
"display" : "Ring chromosome 11 syndrome"
},
{
"code" : "96176",
"display" : "Ring chromosome 13 syndrome"
},
{
"code" : "96266",
"display" : "Leydig cell hypoplasia due to partial LH resistance"
},
{
"code" : "97279",
"display" : "Insulinoma"
},
{
"code" : "97353",
"display" : "Dementia pugilistica"
},
{
"code" : "97366",
"display" : "Multiloculated renal cyst"
},
{
"code" : "97369",
"display" : "Renal tubular dysgenesis of genetic origin"
},
{
"code" : "98434",
"display" : "Hereditary combined deficiency of vitamin K-dependent clotting factors"
},
{
"code" : "98756",
"display" : "Spinocerebellar ataxia type 2"
},
{
"code" : "98767",
"display" : "Spinocerebellar ataxia type 11"
},
{
"code" : "98771",
"display" : "Spinocerebellar ataxia type 18"
},
{
"code" : "98773",
"display" : "Spinocerebellar ataxia type 21"
},
{
"code" : "98805",
"display" : "Primary dystonia, DYT4 type"
},
{
"code" : "98806",
"display" : "Primary dystonia, DYT6 type"
},
{
"code" : "98820",
"display" : "Familial focal epilepsy with variable foci"
},
{
"code" : "98824",
"display" : "Atypical chronic myeloid leukemia"
},
{
"code" : "98826",
"display" : "Refractory anemia"
},
{
"code" : "98839",
"display" : "Intravascular large B-cell lymphoma"
},
{
"code" : "98848",
"display" : "Indolent systemic mastocytosis"
},
{
"code" : "98849",
"display" : "Systemic mastocytosis with associated hematologic neoplasm"
},
{
"code" : "98851",
"display" : "Mast cell leukemia"
},
{
"code" : "98885",
"display" : "Bleeding diathesis due to glycoprotein VI deficiency"
},
{
"code" : "98908",
"display" : "Neutral lipid storage myopathy"
},
{
"code" : "98913",
"display" : "Postsynaptic congenital myasthenic syndromes"
},
{
"code" : "98914",
"display" : "Presynaptic congenital myasthenic syndromes"
},
{
"code" : "98916",
"display" : "Acute inflammatory demyelinating polyradiculoneuropathy"
},
{
"code" : "98933",
"display" : "Multiple system atrophy, parkinsonian type"
},
{
"code" : "98947",
"display" : "Coloboma of optic disc"
},
{
"code" : "98957",
"display" : "Gelatinous drop-like corneal dystrophy"
},
{
"code" : "98961",
"display" : "Reis-Bücklers corneal dystrophy"
},
{
"code" : "98963",
"display" : "Granular corneal dystrophy type II"
},
{
"code" : "98978",
"display" : "Axenfeld anomaly"
},
{
"code" : "99000",
"display" : "Adult-onset foveomacular vitelliform dystrophy"
},
{
"code" : "99013",
"display" : "Spastic paraplegia type 7"
},
{
"code" : "99015",
"display" : "Spastic paraplegia type 2"
},
{
"code" : "99050",
"display" : "Abnormal origin of right or left pulmonary artery from the aorta"
},
{
"code" : "99052",
"display" : "Discrete fibromuscular subaortic stenosis"
},
{
"code" : "99061",
"display" : "Accessory mitral valve tissue"
},
{
"code" : "99077",
"display" : "Kommerell diverticulum"
},
{
"code" : "99084",
"display" : "Peripheral pulmonary stenosis"
},
{
"code" : "99104",
"display" : "Atrial septal defect, coronary sinus type"
},
{
"code" : "99129",
"display" : "Congenital complete agenesis of pericardium"
},
{
"code" : "99141",
"display" : "Lymphedema-posterior choanal atresia syndrome"
},
{
"code" : "99147",
"display" : "Acquired von Willebrand syndrome"
},
{
"code" : "99171",
"display" : "Isolated congenital ectropion"
},
{
"code" : "99429",
"display" : "Complete androgen insensitivity syndrome"
},
{
"code" : "99718",
"display" : "Leber plus disease"
},
{
"code" : "99734",
"display" : "Myotonia fluctuans"
},
{
"code" : "99750",
"display" : "Atypical progressive supranuclear palsy syndrome"
},
{
"code" : "99812",
"display" : "LIG4 syndrome"
},
{
"code" : "99849",
"display" : "Glycogen storage disease due to muscle beta-enolase deficiency"
},
{
"code" : "99889",
"display" : "Cushing syndrome due to ectopic ACTH secretion"
},
{
"code" : "99908",
"display" : "Pigeon-breeder lung disease"
},
{
"code" : "99917",
"display" : "Theca steroid-producing cell malignant tumor of ovary, not further specified"
},
{
"code" : "99930",
"display" : "Secondary pulmonary hemosiderosis"
},
{
"code" : "99936",
"display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2B"
},
{
"code" : "99938",
"display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2D"
},
{
"code" : "99990",
"display" : "Brill-Zinsser disease"
},
{
"code" : "100015",
"display" : "Lissencephaly with cerebellar hypoplasia type E"
},
{
"code" : "100033",
"display" : "Hypomaturation amelogenesis imperfecta"
},
{
"code" : "100035",
"display" : "Solitary necrotic nodule of the liver"
},
{
"code" : "100050",
"display" : "Hereditary angioedema type 1"
},
{
"code" : "100073",
"display" : "Neurogenic thoracic outlet syndrome"
},
{
"code" : "100973",
"display" : "FRAXE intellectual disability"
},
{
"code" : "100991",
"display" : "Autosomal dominant spastic paraplegia type 10"
},
{
"code" : "100998",
"display" : "Autosomal dominant spastic paraplegia type 17"
},
{
"code" : "101010",
"display" : "Autosomal spastic paraplegia type 30"
},
{
"code" : "101016",
"display" : "Romano-Ward syndrome"
},
{
"code" : "101082",
"display" : "Charcot-Marie-Tooth disease type 1B"
},
{
"code" : "101084",
"display" : "Charcot-Marie-Tooth disease type 1D"
},
{
"code" : "101089",
"display" : "Hyper-IgM syndrome type 2"
},
{
"code" : "101091",
"display" : "Hyper-IgM syndrome type 4"
},
{
"code" : "101112",
"display" : "Spinocerebellar ataxia type 26"
},
{
"code" : "103907",
"display" : "Chronic diarrhea due to glucoamylase deficiency"
},
{
"code" : "104075",
"display" : "Adenocarcinoma of the small intestine"
},
{
"code" : "137596",
"display" : "Neurotrophic keratopathy"
},
{
"code" : "137617",
"display" : "Nephrogenic systemic fibrosis"
},
{
"code" : "137678",
"display" : "Spondyloepiphyseal dysplasia with metatarsal shortening"
},
{
"code" : "139411",
"display" : "Carney triad"
},
{
"code" : "139417",
"display" : "Acute transverse myelitis"
},
{
"code" : "139426",
"display" : "Perioral myoclonia with absences"
},
{
"code" : "139557",
"display" : "X-linked distal spinal muscular atrophy type 3"
},
{
"code" : "139589",
"display" : "Distal hereditary motor neuropathy type 7"
},
{
"code" : "141074",
"display" : "External auditory canal aplasia/hypoplasia"
},
{
"code" : "141199",
"display" : "Cerebrofacial arteriovenous metameric syndrome type 3"
},
{
"code" : "141242",
"display" : "Paramedian nasal cleft"
},
{
"code" : "141261",
"display" : "Tessier number 5 facial cleft"
},
{
"code" : "157719",
"display" : "Juvenile or adult CACH syndrome"
},
{
"code" : "157791",
"display" : "Epithelioid hemangioendothelioma"
},
{
"code" : "157801",
"display" : "Mesoaxial synostotic syndactyly with phalangeal reduction"
},
{
"code" : "157820",
"display" : "Cold-induced sweating syndrome"
},
{
"code" : "157835",
"display" : "Paroxysmal hemicrania"
},
{
"code" : "157850",
"display" : "Pantothenate kinase-associated neurodegeneration"
},
{
"code" : "157941",
"display" : "Huntington disease-like 1"
},
{
"code" : "157991",
"display" : "Generalized eruptive histiocytosis"
},
{
"code" : "158025",
"display" : "Hereditary progressive mucinous histiocytosis"
},
{
"code" : "158769",
"display" : "Plaque-form urticaria pigmentosa"
},
{
"code" : "158772",
"display" : "Nodular urticaria pigmentosa"
},
{
"code" : "163708",
"display" : "Cryptogenic late-onset epileptic spasms"
},
{
"code" : "163717",
"display" : "Benign familial mesial temporal lobe epilepsy"
},
{
"code" : "163727",
"display" : "Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome"
},
{
"code" : "163937",
"display" : "X-linked intellectual disability, Najm type"
},
{
"code" : "163956",
"display" : "X-linked intellectual disability, Nascimento type"
},
{
"code" : "163976",
"display" : "X-linked intellectual disability, Van Esch type"
},
{
"code" : "165958",
"display" : "Cavitary myiasis"
},
{
"code" : "166035",
"display" : "Brachydactyly-short stature-retinitis pigmentosa syndrome"
},
{
"code" : "166090",
"display" : "Von Willebrand disease type 2M"
},
{
"code" : "166299",
"display" : "Benign partial epilepsy of infancy with complex partial seizures"
},
{
"code" : "166421",
"display" : "Orgasm-induced seizures"
},
{
"code" : "166424",
"display" : "Thinking seizures"
},
{
"code" : "168549",
"display" : "Axial spondylometaphyseal dysplasia"
},
{
"code" : "168558",
"display" : "46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency"
},
{
"code" : "168583",
"display" : "Hereditary North American Indian childhood cirrhosis"
},
{
"code" : "168624",
"display" : "Familial scaphocephaly syndrome, McGillivray type"
},
{
"code" : "169082",
"display" : "Combined immunodeficiency due to CD3gamma deficiency"
},
{
"code" : "169147",
"display" : "Immunodeficiency due to a classical component pathway complement deficiency"
},
{
"code" : "169150",
"display" : "Immunodeficiency due to a late component of complement deficiency"
},
{
"code" : "171622",
"display" : "Autosomal recessive spastic paraplegia type 32"
},
{
"code" : "171629",
"display" : "Autosomal recessive spastic paraplegia type 35"
},
{
"code" : "171684",
"display" : "Idiopathic bilateral vestibulopathy"
},
{
"code" : "171700",
"display" : "Diffuse panbronchiolitis"
},
{
"code" : "171848",
"display" : "Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome"
},
{
"code" : "171876",
"display" : "Generalized pseudohypoaldosteronism type 1"
},
{
"code" : "178320",
"display" : "Acute lung injury"
},
{
"code" : "178377",
"display" : "Osteosclerosis-developmental delay-craniosynostosis syndrome"
},
{
"code" : "178389",
"display" : "Osteopetrosis-hypogammaglobulinemia syndrome"
},
{
"code" : "178464",
"display" : "Hereditary myopathy with early respiratory failure"
},
{
"code" : "178481",
"display" : "Intestinal botulism"
},
{
"code" : "180079",
"display" : "Pseudounicornuate uterus"
},
{
"code" : "180086",
"display" : "Didelphys uterus"
},
{
"code" : "180247",
"display" : "Vaginal carcinoma"
},
{
"code" : "183707",
"display" : "Neutrophil immunodeficiency syndrome"
},
{
"code" : "199267",
"display" : "Infantile digital fibromatosis"
},
{
"code" : "199296",
"display" : "Congenital isolated ACTH deficiency"
},
{
"code" : "199315",
"display" : "Familial clubfoot with or without associated lower limb anomalies"
},
{
"code" : "199332",
"display" : "Endocrine-cerebro-osteodysplasia syndrome"
},
{
"code" : "199627",
"display" : "Atypical autism"
},
{
"code" : "200418",
"display" : "Immunodeficiency with factor I anomaly"
},
{
"code" : "206470",
"display" : "Cystadenoma of childhood"
},
{
"code" : "206492",
"display" : "Vulvovaginal rhabdomyosarcoma"
},
{
"code" : "206564",
"display" : "POMGNT1-related limb-girdle muscular dystrophy R15"
},
{
"code" : "206580",
"display" : "Autosomal recessive lower motor neuron disease with childhood onset"
},
{
"code" : "206991",
"display" : "Viral myositis"
},
{
"code" : "207000",
"display" : "Fungal myositis"
},
{
"code" : "209335",
"display" : "Autosomal dominant adult-onset proximal spinal muscular atrophy"
},
{
"code" : "209956",
"display" : "Idiopathic uveal effusion syndrome"
},
{
"code" : "210128",
"display" : "Urocanic aciduria"
},
{
"code" : "210136",
"display" : "Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome"
},
{
"code" : "210571",
"display" : "Dystonia 16"
},
{
"code" : "210576",
"display" : "Congenital temporomandibular joint ankylosis"
},
{
"code" : "213751",
"display" : "Malignant germ cell tumor of the corpus uteri"
},
{
"code" : "213833",
"display" : "Glassy cell carcinoma of the cervix uteri"
},
{
"code" : "213837",
"display" : "Malignant germ cell tumor of the cervix uteri"
},
{
"code" : "216694",
"display" : "Congenitally corrected transposition of the great arteries"
},
{
"code" : "216796",
"display" : "Osteogenesis imperfecta type 1"
},
{
"code" : "217012",
"display" : "Spinocerebellar ataxia type 31"
},
{
"code" : "217563",
"display" : "Neonatal acute respiratory distress due to SP-B deficiency"
},
{
"code" : "220465",
"display" : "Laron syndrome with immunodeficiency"
},
{
"code" : "220497",
"display" : "Joubert syndrome with renal defect"
},
{
"code" : "221078",
"display" : "Combined hyperactive dysfunction syndrome of the cranial nerves"
},
{
"code" : "221139",
"display" : "Combined immunodeficiency with facio-oculo-skeletal anomalies"
},
{
"code" : "221145",
"display" : "Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies"
},
{
"code" : "228264",
"display" : "Papular elastorrhexis"
},
{
"code" : "228285",
"display" : "Acquired cutis laxa"
},
{
"code" : "228305",
"display" : "Carnitine palmitoyl transferase II deficiency, severe infantile form"
},
{
"code" : "228346",
"display" : "CLN3 disease"
},
{
"code" : "228360",
"display" : "CLN5 disease"
},
{
"code" : "231031",
"display" : "Erythema palmare hereditarium"
},
{
"code" : "231111",
"display" : "Drug-induced lupus erythematosus"
},
{
"code" : "231144",
"display" : "Silver-Russell syndrome due to 11p15 microduplication"
},
{
"code" : "231178",
"display" : "Usher syndrome type 2"
},
{
"code" : "231237",
"display" : "Delta-beta-thalassemia"
},
{
"code" : "231242",
"display" : "Hemoglobin C-beta-thalassemia syndrome"
},
{
"code" : "231393",
"display" : "Beta-thalassemia-X-linked thrombocytopenia syndrome"
},
{
"code" : "231401",
"display" : "Alpha-thalassemia-myelodysplastic syndrome"
},
{
"code" : "231426",
"display" : "Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome"
},
{
"code" : "231720",
"display" : "Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome"
},
{
"code" : "238446",
"display" : "15q11q13 microduplication syndrome"
},
{
"code" : "247511",
"display" : "Autosomal dominant secondary polycythemia"
},
{
"code" : "247573",
"display" : "Late-onset citrullinemia type I"
},
{
"code" : "247698",
"display" : "Multiple endocrine neoplasia type 2A"
},
{
"code" : "247775",
"display" : "Mayer-Rokitansky-Küster-Hauser syndrome type 1"
},
{
"code" : "247868",
"display" : "NLRP12-associated hereditary periodic fever syndrome"
},
{
"code" : "248340",
"display" : "Isolated delta-storage pool disease"
},
{
"code" : "250932",
"display" : "Autosomal dominant optic atrophy and peripheral neuropathy"
},
{
"code" : "250994",
"display" : "1q21.1 microduplication syndrome"
},
{
"code" : "251043",
"display" : "Ring chromosome 5 syndrome"
},
{
"code" : "251282",
"display" : "Autosomal dominant spastic ataxia type 1"
},
{
"code" : "251328",
"display" : "Unclassified vasculitis"
},
{
"code" : "251359",
"display" : "Sickle cell-beta-thalassemia disease syndrome"
},
{
"code" : "251576",
"display" : "Gliosarcoma"
},
{
"code" : "251656",
"display" : "Oligoastrocytoma"
},
{
"code" : "251663",
"display" : "Anaplastic oligoastrocytoma"
},
{
"code" : "251949",
"display" : "Ganglioglioma"
},
{
"code" : "251962",
"display" : "Papillary glioneuronal tumor"
},
{
"code" : "252128",
"display" : "Malignant peripheral nerve sheath tumor with perineurial differentiation"
},
{
"code" : "252212",
"display" : "Malignant triton tumor"
},
{
"code" : "254361",
"display" : "Plectin-related limb-girdle muscular dystrophy R17"
},
{
"code" : "254395",
"display" : "Actinic lichen planus"
},
{
"code" : "254463",
"display" : "Lichen planus pigmentosus"
},
{
"code" : "254851",
"display" : "Mitochondrial DNA-related dystonia"
},
{
"code" : "254857",
"display" : "Lethal infantile mitochondrial myopathy"
},
{
"code" : "254913",
"display" : "Isolated ATP synthase deficiency"
},
{
"code" : "260305",
"display" : "Autosomal recessive sideroblastic anemia"
},
{
"code" : "261204",
"display" : "16p11.2p12.2 microduplication syndrome"
},
{
"code" : "261295",
"display" : "20p12.3 microdeletion syndrome"
},
{
"code" : "261318",
"display" : "Trisomy 20p"
},
{
"code" : "261330",
"display" : "Distal 22q11.2 microdeletion syndrome"
},
{
"code" : "261524",
"display" : "Paternal uniparental disomy of chromosome X"
},
{
"code" : "263317",
"display" : "Thymoma type B"
},
{
"code" : "263508",
"display" : "COG1-CDG"
},
{
"code" : "263662",
"display" : "Familial multiple meningioma"
},
{
"code" : "268316",
"display" : "Complication in hemodialysis"
},
{
"code" : "268366",
"display" : "Closed iniencephaly"
},
{
"code" : "268920",
"display" : "Isolated megalencephaly"
},
{
"code" : "268987",
"display" : "Isolated focal cortical dysplasia type Ic"
},
{
"code" : "268994",
"display" : "Isolated focal cortical dysplasia type II"
},
{
"code" : "275555",
"display" : "Preeclampsia"
},
{
"code" : "276241",
"display" : "Machado-Joseph disease type 2"
},
{
"code" : "279922",
"display" : "Infectious anterior uveitis"
},
{
"code" : "280200",
"display" : "Microform holoprosencephaly"
},
{
"code" : "280827",
"display" : "Congenital pulmonary airway malformation type 0"
},
{
"code" : "280840",
"display" : "Congenital pulmonary airway malformation type 2"
},
{
"code" : "280854",
"display" : "Congenital pulmonary airway malformation type 4"
},
{
"code" : "284169",
"display" : "Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion"
},
{
"code" : "284227",
"display" : "TEMPI syndrome"
},
{
"code" : "284232",
"display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2O"
},
{
"code" : "284247",
"display" : "Familial retinal arterial macroaneurysm"
},
{
"code" : "284343",
"display" : "DICER1 tumor-predisposition syndrome"
},
{
"code" : "284435",
"display" : "Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency"
},
{
"code" : "284984",
"display" : "Aneurysm-osteoarthritis syndrome"
},
{
"code" : "289266",
"display" : "Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation"
},
{
"code" : "289380",
"display" : "Myosclerosis"
},
{
"code" : "289494",
"display" : "4H leukodystrophy"
},
{
"code" : "289586",
"display" : "Exfoliative ichthyosis"
},
{
"code" : "289846",
"display" : "Glutathione synthetase deficiency with 5-oxoprolinuria"
},
{
"code" : "289857",
"display" : "Neonatal glycine encephalopathy"
},
{
"code" : "293381",
"display" : "Epithelial recurrent erosion dystrophy"
},
{
"code" : "293603",
"display" : "Congenital hereditary endothelial dystrophy type II"
},
{
"code" : "293987",
"display" : "Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome"
},
{
"code" : "294973",
"display" : "Humeral agenesis/hypoplasia"
},
{
"code" : "295026",
"display" : "Congenital pseudoarthrosis of the ulna"
},
{
"code" : "295239",
"display" : "Macrodactyly of fingers, unilateral"
},
{
"code" : "300284",
"display" : "Connective tissue disorder due to lysyl hydroxylase-3 deficiency"
},
{
"code" : "300385",
"display" : "Pituitary carcinoma"
},
{
"code" : "300878",
"display" : "Hairy cell leukemia variant"
},
{
"code" : "300895",
"display" : "ALK-positive anaplastic large cell lymphoma"
},
{
"code" : "300903",
"display" : "ALK-negative anaplastic large cell lymphoma"
},
{
"code" : "306542",
"display" : "Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome"
},
{
"code" : "306547",
"display" : "Porencephaly-microcephaly-bilateral congenital cataract syndrome"
},
{
"code" : "306644",
"display" : "Complication after organ transplantation"
},
{
"code" : "306674",
"display" : "Kufor-Rakeb syndrome"
},
{
"code" : "308013",
"display" : "Focal acral hyperkeratosis"
},
{
"code" : "308380",
"display" : "Methylcobalamin deficiency type cblDv1"
},
{
"code" : "308425",
"display" : "Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency"
},
{
"code" : "308473",
"display" : "Erythrocyte galactose epimerase deficiency"
},
{
"code" : "308670",
"display" : "Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form"
},
{
"code" : "309324",
"display" : "Free sialic acid storage disease, infantile form"
},
{
"code" : "309789",
"display" : "Rhizomelic chondrodysplasia punctata type 1"
},
{
"code" : "313800",
"display" : "Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome"
},
{
"code" : "313838",
"display" : "Coats plus syndrome"
},
{
"code" : "313947",
"display" : "2q23.1 microduplication syndrome"
},
{
"code" : "314389",
"display" : "Xq12-q13.3 duplication syndrome"
},
{
"code" : "314459",
"display" : "Pseudo-Meigs syndrome"
},
{
"code" : "314655",
"display" : "Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion"
},
{
"code" : "314667",
"display" : "TMEM165-CDG"
},
{
"code" : "314701",
"display" : "Primary systemic amyloidosis"
},
{
"code" : "314950",
"display" : "Primary hypereosinophilic syndrome"
},
{
"code" : "315306",
"display" : "Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form"
},
{
"code" : "319247",
"display" : "Hantavirus pulmonary syndrome"
},
{
"code" : "319251",
"display" : "Rift valley fever"
},
{
"code" : "319322",
"display" : "Mucinous tubular and spindle cell renal carcinoma"
},
{
"code" : "319465",
"display" : "Inherited acute myeloid leukemia"
},
{
"code" : "319569",
"display" : "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency"
},
{
"code" : "320370",
"display" : "Autosomal recessive spastic paraplegia type 43"
},
{
"code" : "324381",
"display" : "Hereditary inclusion body myopathy type 4"
},
{
"code" : "324530",
"display" : "Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation"
},
{
"code" : "324535",
"display" : "Combined oxidative phosphorylation defect type 11"
},
{
"code" : "324540",
"display" : "Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome"
},
{
"code" : "324569",
"display" : "Pontocerebellar hypoplasia type 8"
},
{
"code" : "324575",
"display" : "Hyperinsulinism due to HNF1A deficiency"
},
{
"code" : "324611",
"display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation"
},
{
"code" : "324713",
"display" : "ABeta amyloidosis, Italian type"
},
{
"code" : "329191",
"display" : "Tall stature-long halluces-multiple extra-epiphyses syndrome"
},
{
"code" : "329211",
"display" : "Autosomal dominant neovascular inflammatory vitreoretinopathy"
},
{
"code" : "329228",
"display" : "Microcephalic primordial dwarfism due to ZNF335 deficiency"
},
{
"code" : "329284",
"display" : "Beta-propeller protein-associated neurodegeneration"
},
{
"code" : "329319",
"display" : "Thrombocythemia with distal limb defects"
},
{
"code" : "329478",
"display" : "Adult-onset distal myopathy due to VCP mutation"
},
{
"code" : "329481",
"display" : "Lipoprotein glomerulopathy"
},
{
"code" : "329967",
"display" : "Intermittent hydrarthrosis"
},
{
"code" : "330012",
"display" : "High altitude pulmonary edema"
},
{
"code" : "330029",
"display" : "Hypotrichosis-deafness syndrome"
},
{
"code" : "331176",
"display" : "Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency"
},
{
"code" : "352333",
"display" : "Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome"
},
{
"code" : "352665",
"display" : "Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion"
},
{
"code" : "352737",
"display" : "Temperature-sensitive oculocutaneous albinism type 1"
},
{
"code" : "353298",
"display" : "Roifman syndrome"
},
{
"code" : "356996",
"display" : "ANK3-related intellectual disability-sleep disturbance syndrome"
},
{
"code" : "357027",
"display" : "Hereditary retinoblastoma"
},
{
"code" : "363400",
"display" : "Severe neurodegenerative syndrome with lipodystrophy"
},
{
"code" : "363444",
"display" : "THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome"
},
{
"code" : "363523",
"display" : "Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome"
},
{
"code" : "363659",
"display" : "20q11.2 microduplication syndrome"
},
{
"code" : "363694",
"display" : "Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome"
},
{
"code" : "363700",
"display" : "Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion"
},
{
"code" : "369847",
"display" : "Intellectual disability-hyperkinetic movement-truncal ataxia syndrome"
},
{
"code" : "369881",
"display" : "2p21 microdeletion syndrome without cystinuria"
},
{
"code" : "369920",
"display" : "Pontocerebellar hypoplasia type 9"
},
{
"code" : "369979",
"display" : "Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome"
},
{
"code" : "370010",
"display" : "Intellectual disability-facial dysmorphism-hand anomalies syndrome"
},
{
"code" : "370076",
"display" : "Fetal carbamazepine syndrome"
},
{
"code" : "370131",
"display" : "White platelet syndrome"
},
{
"code" : "371364",
"display" : "Hypotonia-speech impairment-severe cognitive delay syndrome"
},
{
"code" : "391351",
"display" : "SURF1-related Charcot-Marie-Tooth disease type 4"
},
{
"code" : "391665",
"display" : "Homozygous familial hypercholesterolemia"
},
{
"code" : "397941",
"display" : "MAN1B1-CDG"
},
{
"code" : "397951",
"display" : "Microcephaly-thin corpus callosum-intellectual disability syndrome"
},
{
"code" : "397973",
"display" : "Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome"
},
{
"code" : "398156",
"display" : "Oculoauriculofrontonasal syndrome"
},
{
"code" : "401800",
"display" : "Autosomal recessive spastic paraplegia type 60"
},
{
"code" : "401830",
"display" : "Autosomal recessive spastic paraplegia type 69"
},
{
"code" : "401973",
"display" : "MEND syndrome"
},
{
"code" : "402017",
"display" : "Acute myeloid leukemia with t(9;11)(p22;q23)"
},
{
"code" : "404511",
"display" : "Clear cell papillary renal cell carcinoma"
},
{
"code" : "411543",
"display" : "Severe phosphoribosylpyrophosphate synthetase superactivity"
},
{
"code" : "411712",
"display" : "Maternal riboflavin deficiency"
},
{
"code" : "412022",
"display" : "Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome"
},
{
"code" : "420485",
"display" : "Cranio-cervical dystonia with laryngeal and upper-limb involvement"
},
{
"code" : "420492",
"display" : "Adult-onset cervical dystonia, DYT23 type"
},
{
"code" : "420584",
"display" : "Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome"
},
{
"code" : "420741",
"display" : "RIDDLE syndrome"
},
{
"code" : "423275",
"display" : "Spinocerebellar ataxia type 40"
},
{
"code" : "423470",
"display" : "Mucolipidosis type III gamma"
},
{
"code" : "431149",
"display" : "Combined immunodeficiency due to OX40 deficiency"
},
{
"code" : "435329",
"display" : "Familial ossifying fibroma"
},
{
"code" : "435438",
"display" : "Progressive myoclonic epilepsy type 7"
},
{
"code" : "435930",
"display" : "Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome"
},
{
"code" : "435934",
"display" : "COG2-CDG"
},
{
"code" : "436003",
"display" : "Contractures-developmental delay-Pierre Robin syndrome"
},
{
"code" : "436151",
"display" : "Intellectual disability-expressive aphasia-facial dysmorphism syndrome"
},
{
"code" : "438075",
"display" : "Ketoacidosis due to monocarboxylate transporter-1 deficiency"
},
{
"code" : "439175",
"display" : "Pediatric arterial ischemic stroke"
},
{
"code" : "439202",
"display" : "Non-recovering obstetric brachial plexus lesion"
},
{
"code" : "439729",
"display" : "Cutaneous polyarteritis nodosa"
},
{
"code" : "439755",
"display" : "Single-organ polyarteritis nodosa"
},
{
"code" : "439897",
"display" : "Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome"
},
{
"code" : "442835",
"display" : "Non-specific early-onset epileptic encephalopathy"
},
{
"code" : "443227",
"display" : "Paratyphoid fever"
},
{
"code" : "444069",
"display" : "Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome"
},
{
"code" : "444099",
"display" : "Autosomal dominant spastic paraplegia type 73"
},
{
"code" : "444490",
"display" : "Familial chylomicronemia syndrome"
},
{
"code" : "447954",
"display" : "Combined oxidative phosphorylation defect type 25"
},
{
"code" : "447980",
"display" : "19p13.3 microduplication syndrome"
},
{
"code" : "451612",
"display" : "Familial congenital nasolacrimal duct obstruction"
},
{
"code" : "453533",
"display" : "Polyendocrine-polyneuropathy syndrome"
},
{
"code" : "454745",
"display" : "Kuru"
},
{
"code" : "538",
"display" : "Lymphangioleiomyomatosis"
},
{
"code" : "633",
"display" : "Laron syndrome"
},
{
"code" : "681",
"display" : "Hypokalemic periodic paralysis"
},
{
"code" : "615938",
"display" : "Spastic paraparesis-cataracts-speech delay syndrome"
},
{
"code" : "647916",
"display" : "Conjoined twins"
},
{
"code" : "957",
"display" : "Acropectorovertebral dysplasia"
},
{
"code" : "2058",
"display" : "Fryns-Smeets-Thiry syndrome"
},
{
"code" : "2665",
"display" : "Congenital mesoblastic nephroma"
},
{
"code" : "49566",
"display" : "Acquired purpura fulminans"
},
{
"code" : "168615",
"display" : "Hereditary persistence of alpha-fetoprotein"
},
{
"code" : "178355",
"display" : "Smith-McCort dysplasia"
},
{
"code" : "309025",
"display" : "Mevalonate kinase deficiency"
},
{
"code" : "329918",
"display" : "C3 glomerulopathy"
},
{
"code" : "370088",
"display" : "Acute infantile liver failure-multisystemic involvement syndrome"
},
{
"code" : "370943",
"display" : "Autism spectrum disorder-epilepsy-arthrogryposis syndrome"
},
{
"code" : "401862",
"display" : "Lipoyl transferase 1 deficiency"
},
{
"code" : "480701",
"display" : "Facial diplegia with paresthesias"
},
{
"code" : "488650",
"display" : "Distal myopathy, Tateyama type"
},
{
"code" : "530849",
"display" : "Familial apolipoprotein A5 deficiency"
},
{
"code" : "537072",
"display" : "PLG-related hereditary angioedema with normal C1Inh"
},
{
"code" : "555905",
"display" : "IgA pemphigus"
},
{
"code" : "227",
"display" : "Diphallia"
},
{
"code" : "684",
"display" : "Paramyotonia congenita of Von Eulenburg"
},
{
"code" : "645626",
"display" : "Adermatopathic dermatomyositis"
},
{
"code" : "2983",
"display" : "Difference of sex development-intellectual disability syndrome"
},
{
"code" : "3189",
"display" : "Congenital pulmonary valvar stenosis"
},
{
"code" : "3363",
"display" : "Trichomegaly-retina pigmentary degeneration-dwarfism syndrome"
},
{
"code" : "93616",
"display" : "Hemoglobin H disease"
},
{
"code" : "94068",
"display" : "Spondyloepiphyseal dysplasia congenita"
},
{
"code" : "97363",
"display" : "Unilateral multicystic dysplastic kidney"
},
{
"code" : "98995",
"display" : "Early-onset zonular cataract"
},
{
"code" : "162526",
"display" : "Isolated congenital auditory ossicle malformation"
},
{
"code" : "269203",
"display" : "Isolated cerebellar vermis agenesis"
},
{
"code" : "276148",
"display" : "Benign epithelial tumor of salivary glands"
},
{
"code" : "284400",
"display" : "Small cell carcinoma of the bladder"
},
{
"code" : "309796",
"display" : "Rhizomelic chondrodysplasia punctata type 2"
},
{
"code" : "439224",
"display" : "ALECT2 amyloidosis"
},
{
"code" : "451607",
"display" : "Cutaneous pseudolymphoma"
},
{
"code" : "673",
"display" : "Malaria"
},
{
"code" : "1501",
"display" : "Adrenocortical carcinoma"
},
{
"code" : "1910",
"display" : "Fetal iodine syndrome"
},
{
"code" : "2703",
"display" : "Port-wine nevi-mega cisterna magna-hydrocephalus syndrome"
},
{
"code" : "99901",
"display" : "Acyl-CoA dehydrogenase 9 deficiency"
},
{
"code" : "99976",
"display" : "Adenocarcinoma of the esophagus"
},
{
"code" : "141152",
"display" : "Isolated congenital hypoglossia/aglossia"
},
{
"code" : "209932",
"display" : "Cone dystrophy with supernormal rod response"
},
{
"code" : "210122",
"display" : "Congenital alveolar capillary dysplasia"
},
{
"code" : "300888",
"display" : "Diffuse large B-cell lymphoma with chronic inflammation"
},
{
"code" : "324632",
"display" : "Hendra virus infection"
},
{
"code" : "420402",
"display" : "Semicircular canal dehiscence syndrome"
},
{
"code" : "458798",
"display" : "Spinocerebellar ataxia type 41"
},
{
"code" : "505652",
"display" : "CDKL5-deficiency disorder"
},
{
"code" : "2151",
"display" : "Hirschsprung disease-ganglioneuroblastoma syndrome"
},
{
"code" : "2357",
"display" : "Bronchogenic cyst"
},
{
"code" : "54247",
"display" : "Posterior cortical atrophy"
},
{
"code" : "98807",
"display" : "Primary dystonia, DYT13 type"
},
{
"code" : "139552",
"display" : "Distal hereditary motor neuropathy, Jerash type"
},
{
"code" : "158766",
"display" : "Typical urticaria pigmentosa"
},
{
"code" : "171866",
"display" : "Spondyloepimetaphyseal dysplasia, aggrecan type"
},
{
"code" : "276145",
"display" : "Malignant epithelial tumor of salivary glands"
},
{
"code" : "329984",
"display" : "Goblet cell carcinoma"
},
{
"code" : "331226",
"display" : "Susceptibility to infection due to TYK2 deficiency"
},
{
"code" : "411501",
"display" : "Williams-Campbell syndrome"
},
{
"code" : "599480",
"display" : "Acquired hemophilia A"
},
{
"code" : "645334",
"display" : "Retained medullary cord"
},
{
"code" : "1008",
"display" : "Alopecia-epilepsy-pyorrhea-intellectual disability syndrome"
},
{
"code" : "73224",
"display" : "Kidney tubulopathy-dilated cardiomyopathy syndrome"
},
{
"code" : "85284",
"display" : "BRESEK syndrome"
},
{
"code" : "93397",
"display" : "Brachydactyly type A7"
},
{
"code" : "95159",
"display" : "Hepatoerythropoietic porphyria"
},
{
"code" : "98844",
"display" : "Classic Hodgkin lymphoma, mixed cellularity type"
},
{
"code" : "206599",
"display" : "Isolated asymptomatic elevation of creatine phosphokinase"
},
{
"code" : "397709",
"display" : "Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome"
},
{
"code" : "456333",
"display" : "Hereditary neuroendocrine tumor of small intestine"
},
{
"code" : "172",
"display" : "Progressive familial intrahepatic cholestasis"
},
{
"code" : "230",
"display" : "Dopamine beta-hydroxylase deficiency"
},
{
"code" : "573",
"display" : "Monilethrix"
},
{
"code" : "645325",
"display" : "Isolated filum lipoma"
},
{
"code" : "645749",
"display" : "Congenital esophageal stenosis"
},
{
"code" : "2022",
"display" : "Endocardial fibroelastosis"
},
{
"code" : "2353",
"display" : "Schilbach-Rott syndrome"
},
{
"code" : "3472",
"display" : "Yunis-Varon syndrome"
},
{
"code" : "75565",
"display" : "Tropical endomyocardial fibrosis"
},
{
"code" : "79143",
"display" : "Isolated congenital anonychia"
},
{
"code" : "79264",
"display" : "Juvenile neuronal ceroid lipofuscinosis"
},
{
"code" : "79402",
"display" : "Intermediate generalized junctional epidermolysis bullosa"
},
{
"code" : "83452",
"display" : "Complex regional pain syndrome"
},
{
"code" : "83467",
"display" : "Morvan syndrome"
},
{
"code" : "93941",
"display" : "Laryngotracheoesophageal cleft type 4"
},
{
"code" : "141174",
"display" : "Mandibular arteriovenous malformation"
},
{
"code" : "231531",
"display" : "Hermansky-Pudlak syndrome due to BLOC-1 deficiency"
},
{
"code" : "250972",
"display" : "Polymicrogyria with optic nerve hypoplasia"
},
{
"code" : "251618",
"display" : "Subependymal giant cell astrocytoma"
},
{
"code" : "114",
"display" : "Auriculoosteodysplasia"
},
{
"code" : "468699",
"display" : "SLC39A8-CDG"
},
{
"code" : "198",
"display" : "Occipital horn syndrome"
},
{
"code" : "732",
"display" : "Polymyositis"
},
{
"code" : "1252",
"display" : "Blepharonasofacial malformation syndrome"
},
{
"code" : "1681",
"display" : "Diprosopus"
},
{
"code" : "1923",
"display" : "Methimazole embryofetopathy"
},
{
"code" : "2007",
"display" : "Alar cartilages hypoplasia-coloboma-telecanthus syndrome"
},
{
"code" : "2777",
"display" : "Osteomesopyknosis"
},
{
"code" : "51608",
"display" : "Generalized arterial calcification of infancy"
},
{
"code" : "93334",
"display" : "Postaxial polydactyly type A"
},
{
"code" : "97234",
"display" : "Glycogen storage disease due to phosphoglycerate mutase deficiency"
},
{
"code" : "99950",
"display" : "Charcot-Marie-Tooth disease type 4D"
},
{
"code" : "166081",
"display" : "Von Willebrand disease type 2"
},
{
"code" : "168829",
"display" : "Primary peritoneal carcinoma"
},
{
"code" : "319504",
"display" : "Combined oxidative phosphorylation defect type 8"
},
{
"code" : "329802",
"display" : "5p13 microduplication syndrome"
},
{
"code" : "397715",
"display" : "Joubert syndrome with Jeune asphyxiating thoracic dystrophy"
},
{
"code" : "747",
"display" : "Autoimmune pulmonary alveolar proteinosis"
},
{
"code" : "565899",
"display" : "POMGNT2-related limb-girdle muscular dystrophy R24"
},
{
"code" : "1928",
"display" : "Congenital lobar emphysema"
},
{
"code" : "3351",
"display" : "Trichodental syndrome"
},
{
"code" : "88661",
"display" : "Amelogenesis imperfecta"
},
{
"code" : "96185",
"display" : "Maternal uniparental disomy of chromosome 16"
},
{
"code" : "98755",
"display" : "Spinocerebellar ataxia type 1"
},
{
"code" : "103918",
"display" : "Tropical pancreatitis"
},
{
"code" : "137914",
"display" : "Choanal atresia"
},
{
"code" : "171430",
"display" : "Severe congenital nemaline myopathy"
},
{
"code" : "206572",
"display" : "Overlap myositis"
},
{
"code" : "294981",
"display" : "Congenital absence of both lower leg and foot"
},
{
"code" : "295000",
"display" : "Constriction rings syndrome"
},
{
"code" : "295219",
"display" : "Radio-ulnar synostosis, bilateral"
},
{
"code" : "401869",
"display" : "Multiple mitochondrial dysfunctions syndrome type 1"
}
]
}
]
},
"text" : {
}
}
XIG built as of ??metadata-date??. Found ??metadata-resources?? resources in ??metadata-packages?? packages.