Generated Narrative: ValueSet snomed-rare-diseases

• Include these codes as defined in https://termgit.elga.gv.at/CodeSystem/snomed-ct-auszug version 1.6.0+20231108

  Code	Display
  116371000119107	Ganglioneuroma
  16898231000119107	Erythema multiforme major
  716855006	Theca steroid producing cell malignant neoplasm of ovary
  1156453008	Chordoma
  703309000	Familial gestational hyperthyroidism
  255031003	Anaplastic thyroid carcinoma
  1197417009	Congenital portosystemic shunt
  764735002	Squamous cell carcinoma of small intestine
  719950001	Triphalangeal thumb and polysyndactyly syndrome
  726628003	Familial chondromalacia of patella
  82501000119102	Anaplastic astrocytoma of central nervous system
  393563007	Glioblastoma multiforme
  1204417003	Early onset schizophrenia
  77358003	Congenital leukocyte adherence deficiency
  359714009	von Willebrand disease type 2A
  782697005	Solid pseudopapillary carcinoma of pancreas
  404037002	Malignant peripheral nerve sheath tumor
  373587001	Chiari malformation type II
  255107005	Seminoma of testis
  191178002	Hemolytic anemia due to pyruvate kinase deficiency
  767448007	Pineoblastoma
  725031005	Familial primary hypomagnesemia with normocalciuria and normocalcemia
  302851001	Synovial sarcoma
  766981007	Squamous cell carcinoma of colon
  764951002	Carcinosarcoma of cervix uteri
  192727001	Post-infectious encephalitis
  254874008	Malignant dysgerminoma of ovary
  277601005	Acute monoblastic leukemia
  18978002	Ovotestis
  1208342001	Eye defects, arachnodactyly, cardiopathy syndrome
  1157141006	Astroblastoma of central nervous system
  403946000	Paget's disease of nipple
  449248000	Nasopharyngeal carcinoma
  237616002	Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities
  719975002	Hemochromatosis type 4
  90036004	Vitelliform dystrophy
  783164002	Distal monosomy 20q
  702410002	Baraitser-Winter syndrome
  1156404008	Polyembryoma
  445436005	Left superior caval vein persisting to left sided atrium
  447951009	Ewing's sarcoma of soft tissue
  31848007	CREST syndrome
  254645002	Malignant mesothelioma of pleura
  1156413005	Gliomatosis cerebri
  718604008	Small cell neuroendocrine carcinoma of bladder
  254860001	Malignant sex cord tumor of ovary
  189924002	Pleomorphic xanthoastrocytoma
  307609003	Adamantinoma of long bone
  109843000	Hepatoblastoma
  77016009	Amyoplasia congenita disruptive sequence
  725409009	Polydactyly of biphalangeal thumb
  771142009	Cortical dysplasia with focal epilepsy syndrome
  716098006	Congenital bowing of long bone
  307608006	Ewing's sarcoma of bone
  277473004	B-cell chronic lymphocytic leukemia
  15771000119109	Familial hyperalphalipoproteinemia
  1157064005	Gemistocytic astrocytoma of central nervous system
  770685009	Undifferentiated carcinoma of liver and intrahepatic biliary tract
  764998005	Non-herpetic acute limbic encephalitis
  254915003	Clear cell carcinoma of kidney
  715901002	Ependymoblastoma
  110000005	Refractory anemia with excess blasts in transformation (clinical)
  733608000	Papillary renal cell carcinoma
  268262006	Acrocephalosyndactyly
  766979005	Squamous cell carcinoma of rectum
  240370009	Cryptosporidiosis
  722287002	Autism and facial port-wine stain syndrome
  726021008	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
  732250002	Craniosynostosis fibular aplasia syndrome
  719909009	Trisomy Xq28
  702368000	Carcinosarcoma of ovary
  771076003	Leptomyelolipoma
  1156469001	Large cell medulloblastoma of brain
  443333004	Medulloblastoma
  189814006	Pancreatoblastoma
  254955001	Pituitary carcinoma
  420079008	Relapsing fever
  733603009	Tubulocystic renal cell carcinoma
  722111004	Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome
  432328008	Neuroblastoma
  716741008	Hypoplastic tibia and postaxial polydactyly syndrome
  48976006	Prekallikrein deficiency
  404043000	Familial multiple leiomyoma cutis
  89155008	Systemic sclerosis
  104431000119107	Lipomyelomeningocele
  725411000	Familial Scheuermann disease
  765095002	Renal medullary carcinoma
  230769007	Periventricular leukomalacia
  253384009	Accessory tissue on tricuspid leaflet
  404040002	Malignant Triton tumor
  415285009	Myelodysplastic syndrome with multilineage dysplasia
  1156415003	Protoplasmic astrocytoma of brain
  109996008	Refractory anemia (clinical)
  1156406005	Anaplastic oligodendroglioma of central nervous system
  254893005	Carcinoma of vagina
  74034002	Isolated dextrocardia
  766757006	Undifferentiated carcinoma of stomach
  773699009	Pitt Hopkins-like syndrome
  254609000	Carcinoma of ampulla of Vater
  403981003	Epithelioid hemangioendothelioma
  370967009	Retinoblastoma
  733471003	Chromophobe renal cell carcinoma
  124283007	Deficiency of methionine adenosyltransferase
  1157060001	Diffuse astrocytoma of brain
  773395008	Limbic encephalitis with dipeptidyl-peptidase 6 antibodies
  277921008	Atelencephaly
  109853004	Mesothelioma of peritoneum
  763131005	Clear cell adenocarcinoma of ovary
  312104005	Cholangiocarcinoma of biliary tract
  1157062009	Giant cell glioblastoma of central nervous system
  439125003	Thrombophilia due to acquired protein S deficiency
  761958009	Malignant peripheral nerve sheath tumor with perineurial differentiation
  1162855005	Carcinoma of gallbladder and extrahepatic biliary tract
  230283005	Punch drunk syndrome
  716648006	Embryonal sarcoma of liver
  1156472008	Papillary tumor of pineal region
  783704005	Undifferentiated carcinoma of esophagus
  763793004	Limbic encephalitis with contactin-associated protein-like 2 antibodies
  255035007	Adrenal carcinoma
  1230273004	Megaconial congenital muscular dystrophy
  763794005	Limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies
  307576001	Osteosarcoma of bone
  404056007	Alveolar soft part sarcoma
  773575001	Ocular albinism with congenital sensorineural deafness
  109991003	Acute panmyelosis with myelofibrosis
  818967003	Medulloepithelioma of central nervous system
  1157071000	Anaplastic ganglioglioma
  785879009	Mucinous cystadenocarcinoma of pancreas
  1179297007	LIMS2-related limb girdle muscular dystrophy
  722003007	Intellectual disability with cataract and kyphosis syndrome
  253096008	Peripheral neuroectodermal tumor
  302849000	Nephroblastoma
  111032003	Macular cutaneous amyloidosis
  1157070004	Pilomyxoid astrocytoma
  1157068008	Fibrillary astrocytoma of central nervous system
  359721009	von Willebrand disease type 2B
  734024009	Intermediate anorectal malformation
  95339000	Distichiasis
  770601003	Small cell carcinoma of ovary
  785807007	Transitional cell carcinoma of corpus uteri
  16958000	Total anodontia of permanent and deciduous teeth
  372140005	Carcinoma of gallbladder
  189815007	Pulmonary blastoma
  783771003	Acinar cell carcinoma of pancreas
  781641005	Schwannomatosis
  778066006	Carcinofibroma of corpus uteri
  237817008	Idiopathic central precocious puberty
  699185005	Myostatin related hypertrophy of muscle
  307610008	Pilomatrix carcinoma of skin
  716586009	Epstein-Barr virus associated gastric carcinoma
  205280007	Proximal interphalangeal joint symphalangism
  715904005	Pineal parenchymal tumor of intermediate differentiation
  1731000119106	Atypical mycobacterial infection of lung
  763064007	Adenoid cystic carcinoma of cervix uteri
  1156420003	Desmoplastic small round cell tumor
  766980008	Squamous cell carcinoma of stomach
  254727007	Extramammary Paget's disease of skin
  764990003	Mucinous tubular and spindle cell renal carcinoma
  330041000119103	Congenital porencephalic cyst
  771334000	Autosomal dominant limb-girdle muscular dystrophy type 1H
  254852002	Endometrioid carcinoma ovary
  782827000	Epithelioid sarcoma
  733456002	Triphalangeal thumb and dislocation of patella syndrome
  48069004	Acrocephaly
  707670009	Pleuropulmonary blastoma
  238694002	Vibratory angioedema
  254022009	Cloverleaf skull syndrome
  23238000	Common variable agammaglobulinemia
  1156471001	Choroid plexus carcinoma
  253771003	High anorectal malformation
  231947004	Idiopathic anterior uveitis
  254100000	Spondyloepimetaphyseal dysplasia with joint laxity
  733470002	Collecting duct carcinoma of kidney
  254938000	Astrocytoma of brain
  783706007	Serous cystadenocarcinoma of pancreas
  766884000	Familial lambdoid synostosis
  1156452003	Mixed germ cell tumor
  773578004	Spondylocostal dysostosis, hypospadias, intellectual disability syndrome
  422886007	Olfactory neuroblastoma
  239832006	Calcium pyrophosphate deposition disease
  443439001	Malignant fibrous histiocytoma
  716790008	Infective dermatitis co-occurrent and due to human T-cell lymphotropic virus 1 infection
  719274008	Primary pigmented nodular adrenocortical disease
  254632001	Small cell carcinoma of lung
  764694005	MiT family translocation renal cell carcinoma
  780821007	Invasive intraductal papillary-mucinous carcinoma of pancreas
  723610009	Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome
  47270006	Hypercortisolism
  1156418001	Malignant rhabdoid tumor
  444596001	Malignant thymoma
  128105004	von Willebrand disorder
  699356008	Endometrial stromal sarcoma
  1156409003	Anaplastic ependymoma of central nervous system
  783183009	Salivary gland type carcinoma of esophagus
  764791008	Borderline epithelial tumor of ovary
  766758001	Undifferentiated carcinoma of corpus uteri
  716647001	Mixed oligoastrocytoma
  12066005	Citrullinemia, late-onset type
  443936004	Oligodendroglioma
  1157061002	Gliosarcoma of central nervous system
  107691000119101	Non-seminomatous germ cell neoplasm of testis
  277637000	Large cell anaplastic lymphoma
  237816004	Central precocious puberty
  721305008	Acute myeloid leukemia due to recurrent genetic abnormality
  235599003	Eosinophilic esophagitis
  29271008	Camptodactyly
  766978002	Squamous cell carcinoma of gallbladder and extrahepatic biliary tract
  427216002	Spina bifida aperta of thoracic spine
  1156460002	Desmoplastic nodular medulloblastoma of brain
  721698005	Primary malignant neuroendocrine neoplasm of colon
  77123007	Lymphedema praecox
  238662007	Erosive oral lichen planus
  230192003	Limbic encephalitis
  11471000224106	Diffuse intrinsic pontine glioma
  766247009	Primitive neuroectodermal tumor of corpus uteri
  764952009	Carcinosarcoma of corpus uteri
  124174008	Deficiency of pyridoxamine-phosphate oxidase
  720456009	Acromegaloid facial appearance syndrome
  765740002	Adenosarcoma of corpus uteri
  425687007	Spina bifida aperta of cervical spine
  782820003	Spondylometaphyseal dysplasia Czarny Ratajczak type
  764847000	Adenosarcoma of cervix uteri
  78745000	Urticaria pigmentosa
  253017000	Klatskin's tumor
  716594002	Ovarian gonadoblastoma
  91918005	Congenital absence of thymus
  255037004	Parathyroid carcinoma
  766930002	Glassy cell carcinoma of cervix uteri
  721629005	Linitis plastica of stomach
  771080008	Hereditary site-specific ovarian cancer syndrome
  116381000119105	Ganglioneuroblastoma
  721837000	Hypertrichosis and acromegaloid facial appearance syndrome
  766248004	Primitive neuroectodermal tumor of cervix uteri
  254863004	Malignant granulosa cell tumor of ovary
  783157004	Leigh syndrome with nephrotic syndrome
  58437007	Tuberculosis of meninges
  1156410008	Anaplastic oligoastrocytoma of central nervous system
  763479005	Metaplastic carcinoma of breast
  88697005	Pruritic urticarial papules and plaques of pregnancy
  254828009	Liposarcoma
  763063001	Adenoid basal carcinoma of cervix uteri
  785308008	Acquired hemophilia
  770684008	Squamous cell carcinoma of liver and intrahepatic biliary tract
  253772005	Low anorectal malformation
  60399005	Dermatofibrosis lenticularis disseminata
  1148904003	Spermatocytic seminoma of testis
  1187464007	Clear cell sarcoma of kidney
  253383003	Tricuspid valve prolapse
  764938007	Lymphoepithelial carcinoma
  110985001	Multiple fibrofolliculomas
  445014002	Paraneoplastic limbic encephalitis
  771474005	Gastric adenocarcinoma and proximal polyposis of stomach
  1186726000	Primary hyperplasia of mandibular condyle
  252246005	Pseudoxanthoma elasticum
  230411000	Benign non-familial neonatal convulsions
  268163008	Congenital ptosis of upper eyelid
  44250009	Infection by Loa loa
  766881008	Carney complex, trismus, pseudocamptodactyly syndrome
  1264000005	Scar of eye due to and following filtration operation for glaucoma
  773405004	Intellectual disability with strabismus syndrome
  449799008	Subependymal giant cell astrocytoma
  773330000	Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
  771473004	Papular epidermal nevi with skyline basal cell layers syndrome
  44444001	Longitudinal deficiency of ulna
  1260139006	Genetic non-syndromic obesity
  240523007	Viral hemorrhagic fever
  60475009	Congenital anomaly of limb
  771475006	Young adult-onset distal hereditary motor neuropathy
  277530005	Malignant melanoma of meninges
  1208934006	Sagliker syndrome
  718610008	Congenital pontocerebellar hypoplasia type 1
  253899000	Urachal diverticulum
  236385009	Drash syndrome
  764105002	Pseudoxanthoma elasticum-like papillary dermal elastolysis
  2438005	Iniencephaly
  23501004	Arginase deficiency
  1169366007	Menstrual cycle dependent periodic fever
  766704005	Idiopathic recurrent pericarditis
  30967002	Thyrotoxic periodic paralysis
  274947007	Divided right atrium
  716110002	Upper limb defect with eye and ear abnormalities syndrome
  80734006	Marinesco-Sjögren syndrome
  733450008	Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency
  1222679006	Autoimmune interstitial lung disease, arthritis syndrome
  773768000	Emery Nelson syndrome
  63246000	Cholestanol storage disease
  16476681000119105	Spontaneous intracranial hypotension
  1187171005	SLC39A8 congenital disorder of glycosylation
  44359008	Metachromatic leukodystrophy, juvenile type
  31325007	Ring chromosome 21 syndrome
  771510006	X-linked central congenital hypothyroidism with late-onset testicular enlargement
  764500002	Distal trisomy 20q syndrome
  230297002	Multiple system atrophy
  4602007	Robin sequence
  771309000	Autosomal recessive lymphoproliferative disease
  783009008	Pituitary deficiency due to Rathke cleft cysts
  5963005	Subacute neuronopathic Gaucher's disease
  719408007	Lethal omphalocele with cleft palate syndrome
  230782004	Dysequilibrium syndrome
  61094002	La Crosse encephalitis
  1269051002	Primary desmoplastic nodular medulloblastoma of brain
  763133008	Coloboma of inferior eyelid
  64612002	Tunga penetrans infestation
  697898008	Idiopathic pulmonary arterial hypertension
  782743001	Huntington disease-like syndrome due to C9ORF72 expansions
  783616005	Perilipin 1 related familial partial lipodystrophy
  719843001	Morava Mehes syndrome
  717182006	Hyperinsulinism due to deficiency of glucokinase
  124667004	Deficiency of ribose-5-phosphate isomerase
  733600007	Combined oxidative phosphorylation defect type 8
  254589009	Intestinal polyposis syndrome
  721096008	Diffuse palmoplantar keratoderma and acrocyanosis syndrome
  722207000	Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome
  726618007	Autosomal recessive limb girdle muscular dystrophy type 2M
  398250003	Familial hemophagocytic lymphohistiocytosis
  128206006	Congenital sensory neuropathy with selective loss of small myelinated fibers
  773771008	Rare isolated myopia
  719451006	Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome
  698021005	Autosomal dominant nocturnal frontal lobe epilepsy
  782773005	Lethal arteriopathy syndrome due to fibulin-4 deficiency
  400059005	Keratosis pilaris atrophicans
  765145001	T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency
  771306007	Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
  771304005	Benign nocturnal alternating hemiplegia of childhood
  33297000	Hereditary factor II deficiency disease
  360525006	Congenital gingival granular cell tumor
  766870005	Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
  254843006	Familial cancer of breast
  709415008	Mitochondrial membrane protein associated neurodegeneration
  720982007	Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome
  763278004	Facial dysmorphism, cleft palate, loose skin syndrome
  1197588008	X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
  18805001	Congenital secretory diarrhea, sodium type
  1268500006	Primary chromophobe renal cell carcinoma
  702347001	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
  715371006	Cerebellar ataxia and ectodermal dysplasia
  770655004	Microcephalus, brain defect, spasticity, hypernatremia syndrome
  8793008	Rokitansky sequence
  722002002	Scholte syndrome
  718227006	Proximal 16p11.2 microdeletion syndrome
  711156009	KBG syndrome
  725028009	Mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation
  723504000	Ramos Arroyo syndrome
  38993008	Tricho-dento-osseous syndrome
  717909004	Bilateral microtia with deafness and cleft palate syndrome
  8654005	Ectodermal dysplasia
  1255268002	Oculocerebrodental syndrome
  713060000	Sporadic Creutzfeldt-Jakob disease
  783249007	Hyperimmunoglobulin M syndrome without susceptibility to opportunistic infection
  70195006	Congenital anomaly of superior vena cava
  722006004	Isotretinoin-like syndrome
  18899000	Schinzel-Giedion syndrome
  897592003	Congenital disorder of glycosylation type 1i
  764845008	Adenocarcinoma of anal canal
  415111003	Plasma cell neoplasm
  763405000	Ring chromosome 15 syndrome
  254078005	Spondylometaphyseal dysplasia - Sutcliffe type
  722296002	Book syndrome
  409562009	Inhalational botulism
  27943000	Congenital glucose-galactose malabsorption
  718179003	Autosomal recessive limb girdle muscular dystrophy type 2B
  37615000	Tracheobroncheopathia osteoplastica
  770720005	Autosomal recessive spastic paraplegia type 58
  231931001	Stromal corneal dystrophy
  1208936008	Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome
  444645005	Dent's disease
  711543008	Mandibulofacial dysostosis with microcephaly
  719844007	Ulceration of umbilical cord and atresia of intestine syndrome
  43916004	Mucopolysaccharidosis, MPS-VII
  720506002	Deafness and myopia syndrome
  1237337007	Extensive peripapillary myelinated nerve fibres of retina
  400128006	Lethal tight skin contracture syndrome
  33316007	GM2 gangliosidosis
  18116006	Cancrum oris
  1172900005	Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
  188733003	Chronic eosinophilic leukemia
  439274008	Hereditary protein C deficiency
  205506004	Craniodiaphyseal dysplasia
  720009004	Intractable diarrhea with choanal atresia and eye anomaly syndrome
  719306007	Steatocystoma multiplex with natal tooth syndrome
  24750000	Townes syndrome
  70173007	5p partial monosomy syndrome
  719811001	X-linked intellectual disability Cabezas type
  718614004	TEMPI syndrome
  359640008	Acute myeloid leukemia without maturation, FAB M1
  439007008	Acquired thrombotic thrombocytopenic purpura
  77090002	Bullous pemphigoid
  764944006	Congenital muscular dystrophy type 1B
  770682007	Rosette-forming glioneuronal neoplasm
  716279002	Polyrrhinia
  725151007	Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency
  18260003	Postpartum psychosis
  782883004	Fatal infantile hypertonic myofibrillar myopathy
  723446006	Polydactyly of index finger
  27718001	Maple syrup urine disease
  21764004	Renal carnitine transport defect
  461331004	Malposition of coronary artery orifice
  29291001	Glycogen storage disease, type VI
  1285322008	Triopia
  10347006	Solar urticaria
  765142003	Proximal 16p11.2 microduplication syndrome
  82203000	Treacher Collins syndrome
  230328001	Isolated oromandibular dystonia
  764627005	Mosaic trisomy 3 syndrome
  239037001	Curly hair, ankyloblepharon, nail dysplasia syndrome
  1222658006	Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
  1269050001	Primary gemistocytic astrocytoma of central nervous system
  711406009	Autosomal recessive axonal neuropathy with neuromyotonia
  778005007	Duplication of pituitary gland
  702356009	PPM-X syndrome
  267581004	Progressive myoclonic epilepsy
  79120002	Congenital elevation of scapula
  59981001	Congenital absence of penis
  723995003	Schimke immuno-osseous dysplasia
  254079002	Spondyloenchondrodysplasia
  109385007	Kaposi's sarcoma (clinical)
  17190001	Congenital diaphragmatic hernia
  784344009	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
  56677004	Pallister-Hall syndrome
  232059000	Laurence-Moon syndrome
  770948004	Rhizomelic syndrome Urbach type
  1177167002	Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome
  773583007	Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
  1264009006	Isolated cytochrome C oxidase deficiency
  722132007	PAGOD syndrome
  67944007	Lhermitte-Duclos disease
  14091009	12p partial trisomy syndrome
  254191009	Localized junctional epidermolysis bullosa
  722451006	Gomez Lopez Hernandez syndrome
  429753001	Congenital nonprogressive myopathy with Moebius and Robin sequences
  230228004	Early onset cerebellar ataxia with retained tendon reflexes
  717337001	Syndromic orbital border hypoplasia
  415176004	Primary congenital glaucoma
  773624006	Primary ameloblastic carcinoma
  733089005	Spastic paraplegia, nephritis, deafness syndrome
  724275005	Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency
  65705009	Porencephalic cyst
  1186718008	Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome
  721194008	Neuroendocrine neoplasm of stomach
  763531001	Familial benign copper deficiency
  773775004	High-grade neuroendocrine carcinoma of cervix uteri
  718615003	8q21.11 microdeletion syndrome
  3987009	Congenital absence of trachea
  773582002	Hendra virus infection
  63479002	Ancylostomiasis
  719521002	Benign paroxysmal torticollis of infancy
  771263004	Ptosis and vocal cord paralysis syndrome
  722282008	Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
  773769008	Ataxia, photosensitivity, short stature syndrome
  360481003	Common atrioventricular canal
  1279834007	Congenital insensitivity to pain, hyperhidrosis, absence of cutaneous sensory innervation
  763619009	White forelock with malformations syndrome
  61900003	Longitudinal deficiency of radius
  398040009	Hereditary sensory-motor neuropathy, type I
  58561002	Diastrophic dysplasia
  720987001	Aniridia, ptosis, intellectual disability, familial obesity syndrome
  447351004	Vanishing white matter disease
  26629001	Short bowel syndrome
  715340002	Autosomal recessive limb girdle muscular dystrophy type 2D
  1172606002	Idiopathic pleuroparenchymal fibroelastosis
  193411004	Dominant drusen
  72315009	Inclusion body myositis
  715789009	Myotonia permanens
  72922008	Short rib-polydactyly syndrome, Majewski type
  716233007	Steinfeld syndrome
  239007005	Hypohidrotic X-linked ectodermal dysplasia
  62501005	Chondroectodermal dysplasia
  733049004	Encephalopathy, intracerebral calcification, retinal degeneration syndrome
  725911008	TARP syndrome
  723359002	Familial acute necrotizing encephalopathy
  771075004	Macrothrombocytopenia with mitral valve insufficiency
  766240006	Maternal uniparental disomy of chromosome 9
  403772000	Cleft palate lateral synechia syndrome
  439143004	Simpson-Golabi-Behmel syndrome
  205483007	Hypochondrogenesis
  1222706005	Anterior maxillary protrusion, strabismus, intellectual disability syndrome
  718096004	Hepatoportal sclerosis
  770567006	Progeroid syndrome Petty type
  307651005	Primary myelofibrosis
  89261000	Isolated thyrotropin deficiency
  774210006	Angora hair nevus
  763535005	Hyperphalangy
  1268703006	Primary peripheral neuroectodermal tumour
  722231005	Perlman syndrome
  777999008	Hypomyelination with brain stem and spinal cord involvement and leg spasticity
  1217211002	Postural orthostatic tachycardia syndrome due to norepinephrine transporter deficiency
  718603002	Phosphoserine aminotransferase deficiency
  715526002	Dehydrated hereditary stomatocytosis
  770560008	Lissencephaly due to LIS1 mutation
  768937006	Extragonadal teratoma
  715734006	Thyroid hemiagenesis
  230263009	Autosomal dominant spastic paraplegia type 17
  253789002	Familial intestinal malrotation
  721876004	Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency
  723503006	Retinal degeneration, nanophthalmos, glaucoma syndrome
  783057002	DNA2-related mitochondrial DNA deletion syndrome
  1231309005	Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form
  1197415001	Susceptibility to infection due to TYK2 deficiency
  307601000	Pseudomyxoma peritonei
  724344004	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
  719972004	Haddad syndrome
  732252005	Carbohydrate deficient glycoprotein syndrome type 2k
  1197334002	Malignant melanoma of uveal tract
  1172630000	Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
  22440001	Mooren's ulcer
  266169003	Free-living ameba infection
  763400005	X-linked Charcot-Marie-Tooth disease type 4
  446682003	Pediatric autoimmune neuropsychiatric disorder associated with streptococcal infection
  1172690003	Propylthiouracil embryofetopathy
  61959006	Common arterial trunk (truncus arteriosus)
  237603002	Transient neonatal diabetes mellitus
  439732004	Myoclonic dystonia
  1260199008	Non-syndromic genetic hearing loss
  717050005	Autosomal recessive sideroblastic anemia
  716194005	Pili torti with developmental delay and neurological abnormality syndrome
  1268387008	Primary undifferentiated carcinoma of body of uterus
  406476007	Epispadias
  360619001	Deficiency of butyrylcholinesterase
  1222704008	Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
  21111006	Complete trisomy 13 syndrome
  721846006	Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome
  725049005	Aggressive fibromatosis
  720850008	Choroidal atrophy and alopecia syndrome
  715631005	Chondrodysplasia punctata Toriello type
  724649000	Langerhans cell sarcoma
  774211005	Severe dermatitis, multiple allergies, metabolic wasting syndrome
  49465005	Angioma serpiginosum
  716652006	Primary hepatic neuroendocrine carcinoma
  715317001	Proximal myotonic myopathy
  36799008	Glutamate-cysteine ligase deficiency
  360339005	Congenital hyperinsulinism
  1254650002	Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome
  720492008	Ankylosing vertebral hyperostosis with tylosis syndrome
  1234911006	Congenital cochleovestibular malformation
  715422002	Craniotelencephalic dysplasia
  277950001	Muscle eye brain disease
  1082761000119106	Barretts esophagus with high grade dysplasia
  403438007	Congenital lower lip pits
  400085009	Acrokeratosis verruciformis of Hopf
  720751000	Corticosteroid sensitive aseptic abscess syndrome
  763775000	Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome
  1268484002	Primary synovial sarcoma
  75316000	Autoimmune hypoparathyroidism
  253006001	Somatostatinoma
  253136007	Lobar holoprosencephaly
  763347000	X-linked Charcot-Marie-Tooth disease type 6
  766819001	Severe lateral tibial bowing with short stature
  278713008	Spondyloepiphyseal dysplasia congenita
  76880004	Angelman syndrome
  780844005	Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2); RPN1-EVI1
  403799003	Congenital hypertrichosis lanuginosa
  771240009	Pilodental dysplasia, refractive errors syndrome
  7903009	Hallermann-Streiff syndrome
  399947002	Progeroid short stature with pigmented nevi
  763715007	Familial hyperprolactinemia
  773662009	Neonatal inflammatory skin and bowel disease
  723584003	Stern Lubinsky Durrie syndrome
  253997002	Cleft of soft palate
  782718007	Dystonia aphonia syndrome
  1187194006	Chronic enteropathy associated with SLCO2A1 gene
  1268955002	Primary malignant Triton tumor
  51626007	Werner syndrome
  765812004	Congenital absence of innominate vein
  231719009	Dysphagia lusoria
  65617004	Veno-occlusive disease of the liver
  707442002	Congenital pulmonary alveolar proteinosis
  764696007	Distal 17p13.3 microdeletion syndrome
  724066002	Polysyndactyly and cardiac malformation syndrome
  720940008	Hepatic lipase deficiency
  763209008	Combined oxidative phosphorylation defect type 9
  239069005	Acroerythrokeratoderma
  765753004	Autosomal recessive spastic paraplegia type 45
  1187249005	VPS11-related autosomal recessive hypomyelinating leukodystrophy
  721979005	Lymphedema and cerebral arteriovenous anomaly syndrome
  763743003	Intellectual disability, spasticity, ectrodactyly syndrome
  62042001	Splenogonadal fusion
  419900000	Gelatinous droplike corneal dystrophy
  722437006	Ectopia lentis, chorioretinal dystrophy, myopia syndrome
  74162007	Progressive intrahepatic cholestasis
  193839007	Fuchs' corneal dystrophy
  783773000	Congenital abnormal number of coronary ostia
  703268008	Cerebrofacial arteriovenous metameric syndrome type 3
  59925007	Paracoccidioidomycosis
  764624003	Mosaic trisomy 20 syndrome
  721235003	Hyperinsulinism due to insulin receptor deficiency
  42376006	Occipital encephalocele
  15182000	Coffin-Lowry syndrome
  58756001	Huntington's chorea
  1220600004	RARS-related autosomal recessive hypomyelinating leukodystrophy
  1237341006	Intraductal tubulopapillary malignant neoplasm of pancreas
  10623005	Fibrous dysplasia of bone
  41013004	Argininosuccinate lyase deficiency
  40100001	Obliterative bronchiolitis
  721535002	Central neurocytoma of brain
  721842008	Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome
  774083009	Neonatal autoimmune hemolytic anemia
  1281843005	Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome
  77097004	Oculopharyngeal muscular dystrophy
  23820006	Fingerprint myopathy
  725135004	Combined immunodeficiency due to CD3gamma deficiency
  718175009	Macrophagic myofasciitis
  715827001	Autosomal recessive dopa responsive dystonia
  240451000	Streptococcal toxic shock syndrome
  719839000	Tubular renal disease with cardiomyopathy syndrome
  721200000	Early-onset X-linked optic atrophy
  715753001	Spinocerebellar ataxia type 8
  389239007	Raine dysplasia
  715420005	Lethal congenital contracture syndrome type 3
  124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
  763631006	Short stature, wormian bones, dextrocardia syndrome
  111584000	Reticular dysgenesis
  715430001	Indomethacin embryofetopathy
  783094006	Autosomal recessive spastic paraplegia type 14
  764946008	Constitutional mismatch repair deficiency syndrome
  1208475008	Cystadenoma of ovary in childhood
  763688008	Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
  240877000	Cutaneous myiasis
  784346006	Navajo neurohepatopathy
  428111003	Melioidosis
  720853005	Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome
  447288004	Poisoning by manganese
  1255121003	Classical-like Ehlers-Danlos syndrome type 2
  254251003	Fetal minoxidil syndrome
  62009002	Adult neuronal ceroid lipofuscinosis
  118617000	Burkitt's lymphoma (clinical)
  448105006	Anomalous origin of pulmonary artery from patent arterial duct
  767299002	Toxic effect of mercury and/or mercury compound
  719103009	Autosomal recessive spastic paraplegia type 39
  733096007	Thyrocerebrorenal syndrome
  778006008	Autosomal dominant aplasia and myelodysplasia
  32614006	Microglossia
  111311004	20p partial trisomy syndrome
  725164008	Omodysplasia
  770434009	Familial benign flecked retina
  719102004	Congenital cataract with ataxia and deafness syndrome
  39111003	Louse-borne typhus
  719209002	Spinocerebellar ataxia type 13
  85049009	Tritanopia
  237960000	D-2(OH) glutaric aciduria
  17901006	Primary hyperoxaluria
  1187622004	NUT (nuclear protein in testis) carcinoma
  716745004	Sneddon syndrome
  773646003	PLCG2-associated antibody deficiency and immune dysregulation
  771442003	Ogden syndrome
  1187233008	Leukocyte adhesion deficiency
  783698005	Autosomal dominant spastic paraplegia type 13
  32891000	Rotor syndrome
  784341001	Amyotrophic lateral sclerosis type 4
  733622000	46,XX disorder of sex development with anorectal anomalies syndrome
  719138006	X-linked intellectual disability with cubitus valgus and dysmorphism syndrome
  783156008	Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome
  720819006	Curry Jones syndrome
  58882000	Congenital cystic eyeball
  63247009	Williams syndrome
  197270009	Acute hepatic failure
  718679004	Mammary digital nail syndrome
  717785002	Coloboma of macula with brachydactyly type B syndrome
  12246008	Acute neuronopathic Gaucher's disease
  8933000	Crigler-Najjar syndrome, type I
  764518004	Distal trisomy 2p
  277545003	T-cell chronic lymphocytic leukemia
  1269235004	Autosomal recessive extra-oral halitosis
  234458004	Hypodysfibrinogenemia
  733312003	Keratitis caused by infection
  77503002	Marburg virus disease
  118610003	Hodgkin's disease, lymphocytic depletion (clinical)
  785298001	Muscle eye brain disease with bilateral multicystic leukodystrophy
  40873003	Sulfite oxidase deficiency syndrome
  723454008	Phosphoribosylpyrophosphate synthetase superactivity
  783242003	Adult-onset cervical dystonia DYT23 type
  446449009	Renal coloboma syndrome
  1196844004	Primary malignant astrocytoma of brain
  111307005	Leprechaunism syndrome
  1260190007	Ventilator-induced diaphragmatic dysfunction
  74561007	Kommerell's diverticulum
  10741005	Lipid storage disease
  124427009	Deficiency of 3-hydroxyisobutyryl CoA hydrolase
  1260202003	Monoclonal mast cell activation syndrome
  702418009	Donnai-Barrow syndrome
  725290000	Combined immunodeficiency due to partial RAG1 deficiency
  233901002	His bundle tachycardia
  1234828008	Osteofibrous dysplasia
  87979003	Cleft palate
  786878009	Anal fistula
  205258009	Acrocephalosyndactyly type I
  77365006	Dihydropyrimidine dehydrogenase deficiency
  89369001	Anencephalus
  783734000	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
  363732003	Addison's disease
  1222656005	SYNGAP1-related developmental and epileptic encephalopathy
  783770002	Alpha-B crystallin-related late-onset myopathy
  778060000	COL4A1-related familial vascular leukoencephalopathy
  1172636006	Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
  1222670005	GJC2-related late-onset primary lymphedema
  268274005	Enchondromatosis
  1271009	Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome
  2736005	Atrophoderma vermiculatum
  32390006	Panhypopituitarism
  205800003	Gorlin-Chaudhry-Moss syndrome
  299276009	Limited systemic sclerosis
  1172625004	DDX41-related hematologic malignancy predisposition syndrome
  1237513008	Osteosclerotic metaphyseal dysplasia
  715822007	Lissencephaly with cerebellar hypoplasia type F
  253353007	Divided left atrium
  715428003	Skeletal dysplasia with epilepsy and short stature syndrome
  722955006	Chronic lymphoproliferative disorder of natural killer cells
  7297005	Generalized seborrheic dermatitis of infants
  775908005	Combined oxidative phosphorylation defect type 17
  5645008	Nasal glial heterotopia
  766817004	Short stature due to growth hormone secretagogue receptor deficiency
  1264006004	NLRC4-related familial cold autoinflammatory syndrome
  733064004	Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome
  725137007	Neutropenia, monocytopenia, deafness syndrome
  203467005	Solitary bone cyst
  774153002	Periodic paralysis with transient compartment-like syndrome
  1208620009	Multiple mitochondrial dysfunctions syndrome type 3
  764108000	Wooly hair with palmoplantar keratoderma syndrome
  1230019002	Radiation-induced plexopathy
  404067008	Adipocytic liposarcoma
  87380008	Congenital absence of vagina
  763374004	Autosomal dominant spastic paraplegia type 12
  721013001	Heart-hand syndrome type 3
  60412004	Infestation by fly larvae
  67531005	Spina bifida
  720860004	Ehlers-Danlos syndrome musculocontractural type
  700489002	Sensorineural deafness and male infertility
  719379001	Microcephalus with cardiac defect and lung malsegmentation syndrome
  723578001	Terminal osseous dysplasia and pigmentary defect syndrome
  770438007	Infantile spasm and broad thumb syndrome
  733062000	Marfanoid habitus with autosomal recessive intellectual disability syndrome
  702447002	Kuskokwim syndrome
  1260140008	Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
  1234910007	Congenital straddling and overriding tricuspid valve
  49428008	Elastosis perforans serpiginosa
  65457005	Endocardial fibroelastosis
  217670007	Poisoning caused by scorpion venom
  1177176009	Intermediate epidermolysis bullosa simplex with cardiomyopathy
  64852002	Sarcosine dehydrogenase deficiency
  406558002	African tick bite fever
  17231009	Fetal valproate syndrome
  773665006	Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome
  388759003	Infection caused by Entamoeba histolytica
  230270009	Frontotemporal dementia
  44940001	Adenosine deaminase deficiency
  721173005	Hypotonia cystinuria syndrome
  13534001	Camptocormia
  723612001	Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
  1220574003	COG6-CGD - component of oligomeric golgi complex 6-congenital disorder of glycosylation
  715418007	Lethal congenital contracture syndrome type 1
  234619000	Hereditary C1 esterase inhibitor deficiency - deficient factor
  239121009	Syringocystadenoma papilliferum
  718774001	Spinocerebellar ataxia type 21
  1268503008	Primary papillary renal cell carcinoma
  231930000	Reis-Bucklers' corneal dystrophy
  783098009	Short stature due to partial growth hormone receptor deficiency
  235760009	Radiation proctitis
  26089000	Trematode infection
  54064006	Classical maple syrup urine disease
  770664009	Neonatal brainstem dysfunction
  277189006	Subacute inflammatory demyelinating polyradiculoneuropathy
  699866005	Brown-Vialetto-Van Laere syndrome
  773579007	Congenital chronic diarrhea with protein-losing enteropathy
  92824003	Neurofibromatosis type 1
  720507006	Chronic atrial and intestinal dysrhythmia
  782822006	Infantile cerebellar and retinal degeneration
  1197478005	Primary immunodeficiency with multifaceted aberrant lymphoid immunity
  1208741006	SMARCA4-deficient undifferentiated neoplasm of thorax
  789777007	Short-limb skeletal dysplasia with severe combined immunodeficiency
  778064009	Ectopic aldosterone-producing neoplasm
  720464003	ADULT (acro-dermato-ungual-lacrimal-tooth) syndrome
  56604005	Cohen syndrome
  424952003	Sarcoma of soft tissue
  732932004	Autosomal recessive spastic paraplegia type 18
  716701004	Epidermolysis bullosa simplex with pyloric atresia
  54036001	Oto-palato-digital syndrome, type I
  1220575002	Fetal encasement syndrome
  718124006	Fatal infantile cytochrome C oxidase deficiency
  197260007	Intestinal lymphangiectasis
  783558004	Combined oxidative phosphorylation defect type 11
  232328005	Dominant sensorineural hearing loss
  1187615007	TAFRO syndrome
  1268631009	Primary glassy cell carcinoma of cervix uteri
  715662009	Iatrogenic Jakob-Creutzfeldt disease
  277527003	Melanocytoma of meninges
  711161006	Hypochromic microcytic anemia with iron overload
  398254007	Pre-eclampsia
  733416004	Exostosis, anetoderma, brachydactyly type E syndrome
  1197428008	Combined immunodeficiency, enteropathy spectrum
  770563005	Maternal uniparental disomy of chromosome 13
  109841003	Liver cell carcinoma
  718104007	Torsade de pointes with short coupling interval syndrome
  720956003	Foix Chavany Marie syndrome
  71404003	Lipomatosis dolorosa
  1220594007	Pierpont syndrome
  238731001	Pseudopelade
  426508001	Ileal pouchitis
  702442008	Ataxia with vitamin E deficiency
  724838009	Hereditary skin peeling syndrome
  52947006	Japanese encephalitis virus disease
  39427000	Pachyonychia congenita syndrome
  763740000	Infantile mercury poisoning
  719455002	Cone dystrophy with supernormal rod response
  238027003	Adult GM1 gangliosidosis
  782772000	Congenital muscular dystrophy with intellectual disability and severe epilepsy
  782725000	Autosomal recessive spastic paraplegia type 69
  721977007	Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome
  774084003	Neonatal antiphospholipid syndrome
  425708006	Placental aromatase deficiency
  773750003	Flat face, microstomia, ear anomaly syndrome
  763311001	Adrenomyodystrophy
  716231009	Spondylocamptodactyly syndrome
  778000002	3q26q27 microdeletion syndrome
  1237228009	Night blindness, skeletal anomalies, dysmorphism syndrome
  763406004	Ring chromosome 16 syndrome
  773629001	Onychomatricoma
  718908009	X-linked intellectual disability Siderius type
  124252008	Deficiency of transaldolase
  1268888008	Primary pineal parenchymal tumour of intermediate differentiation
  719910004	Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome
  237249000	Complete hydatidiform mole
  722004001	Agenesis of internal carotid artery
  766767001	Autosomal recessive spastic paraplegia type 67
  254869000	Malignant germ cell tumor of ovary
  768924008	Serous cystadenoma of ovary in childhood
  16242007	Hereditary orotic aciduria
  238007004	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
  702419001	Fatty acid hydroxylase associated neurodegeneration
  36193003	Thalidomide embryopathy syndrome
  233646003	Congenital chylothorax
  772127009	White Sutton syndrome
  404079008	Extraskeletal myxoid chondrosarcoma
  1234819007	Limb girdle muscular dystrophy due to POMK deficiency
  55852007	Complete phocomelia of lower limb
  57838006	Retinitis pigmentosa-deafness syndrome
  254121000	Osteopetrosis - intermediate type
  716697002	Hereditary persistence of alpha-fetoprotein
  771515001	Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
  711159002	Histiocytosis-lymphadenopathy plus syndrome
  190794006	Gaucher's disease
  5335002	Phosphoenolpyruvate carboxykinase (GTP) deficiency
  13449007	Melnick-Needles syndrome
  717459000	Congenital primary megaureter
  770542008	Isochromosomy Yq
  238902007	Multiple symmetrical lipomatosis
  80544005	Spongy degeneration of central nervous system
  1237514002	Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome
  716857003	Hereditary pheochromocytoma and paraganglioma
  51720005	Gray platelet syndrome
  1156495004	Dendritic cell sarcoma
  773498006	Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency
  783742004	Conductive deafness, malformed external ear syndrome
  111030006	Howel-Evans' syndrome
  716192009	Thong Douglas Ferrante syndrome
  442300000	Rhombencephalosynapsis
  778024005	Monocytopenia with susceptibility to infections
  718749004	Generalized peeling skin syndrome
  233707008	High altitude pulmonary edema
  50866000	Childhood absence epilepsy
  718554005	Medich giant platelet syndrome
  35868009	Carcinoid syndrome
  10087007	Infection by Schistosoma
  15545001	Congenital duplication of uterus
  205821003	Congenital contractural arachnodactyly
  715625007	Growth delay due to insulin-like growth factor I resistance
  42829009	Pili multigemini
  238653005	Lichen planus pemphigoides
  715666007	Charcot-Marie-Tooth disease type IE
  230418006	Lennox-Gastaut syndrome
  253194008	Aneurysm of the vein of Galen
  722127006	Pacman dysplasia
  254231002	Congenital wooly hair
  719911000	Trichodysplasia with amelogenesis imperfecta syndrome
  41069008	Langer-Giedion syndrome
  1268635000	Primary squamous cell carcinoma of colon
  726029005	McCune Albright syndrome
  715529009	Progressive deafness with stapes fixation
  86252004	Agenesis of pulmonary artery
  723580007	Talo-patello-scaphoid osteolysis syndrome
  719818007	X-linked spinocerebellar ataxia type 4
  18546004	Congenital stenosis of aortic valve
  715344006	Neurofibromatosis Noonan syndrome
  763130006	Cleft palate, large ears, small head syndrome
  609561005	Maturity-onset diabetes of the young
  21926007	Pili annulati
  763366000	Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome
  718900002	Syndromic X-linked intellectual disability type 11
  1234821002	Primary intrahepatic lithiasis
  699306003	1p36 deletion syndrome
  41495000	Disseminated superficial actinic porokeratosis
  204102004	Cryptophthalmos syndrome
  721233005	Hypergonadotropic hypogonadism with cataract syndrome
  720851007	Chondrodysplasia with disorder of sex development syndrome
  702413000	RAPADILINO syndrome
  31248004	Epignathus
  715726000	Spinocerebellar ataxia type 7
  737580004	Idiopathic bilateral vestibulopathy
  715951007	Acrocallosal syndrome
  232064001	Wagner syndrome
  763407008	Ring chromosome Y syndrome
  764463001	Mosaic trisomy 12 syndrome
  719397009	Mesomelic dysplasia Kantaputra type
  716721003	Genetic recurrent myoglobinuria
  111508004	Emery-Dreifuss muscular dystrophy
  722383001	Catel Manzke syndrome
  717231003	PFAPA syndrome
  763134002	Chondroectodermal dysplasia with night blindness syndrome
  717158001	Partial chromosome Y deletion
  763616002	Velofacioskeletal syndrome
  721219005	Familial Alzheimer-like prion disease
  723360007	Familial hypercholanemia
  67817003	Pili torti-deafness syndrome
  20815007	Exstrophy of cloaca sequence
  240450004	Staphylococcal toxic shock syndrome
  28259009	Crigler-Najjar syndrome
  773415005	Contiguous ABCD1 DXS1357E deletion syndrome
  732929002	Autosomal recessive limb girdle muscular dystrophy type 2S
  403793002	Familial painful callosities
  762195006	Congenital bronchogenic cyst
  254957009	Somatotroph adenoma
  189948006	Schwannoma
  403554008	Oculocerebrocutaneous syndrome
  127225006	Chronic myelomonocytic leukemia
  726018006	Autosomal dominant tubulointerstitial kidney disease
  770941005	Alopecia, progressive neurological defect, endocrinopathy syndrome
  1260095004	Menke Hennekam syndrome
  1268485001	Primary non-seminomatous germ cell neoplasm of testis
  8808004	Biotinidase deficiency
  721672004	Primary mucinous adenocarcinoma of appendix
  722211006	Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome
  715664005	Interdigitating dendritic cell sarcoma
  724146008	Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
  1217210001	Hyperostosis cranialis interna
  717826009	Hereditary sensory and autonomic neuropathy with deafness and global delay
  1187468005	Autosomal dominant spastic paraplegia type 73
  716585008	Lujo hemorrhagic fever
  254146000	Infantile myofibromatosis
  702362004	Craniofacial deafness hand syndrome
  29076005	Meckel-Gruber syndrome
  32659003	Congenital hypoplasia of kidney
  253706007	Anomalous origin of coronary artery from pulmonary arterial tree
  1162864000	Familial porencephaly
  20052008	Hereditary fructosuria
  232442001	Congenital laryngeal abductor palsy
  763895001	Myosclerosis
  720460007	Acute bilateral depigmentation of iris
  81678004	Ring chromosome 4 syndrome
  1208744003	Non-functioning neuroendocrine neoplasm of pancreas
  447829000	Congenital abnormality of tricuspid chordae tendinae
  766933000	Idiopathic panuveitis
  239032007	Berlin syndrome
  719664004	8q22.1 microdeletion syndrome
  725907002	Autosomal recessive limb girdle muscular dystrophy type 2Y
  13978000	Chronic endophthalmitis
  764989007	Mosaic trisomy 9 syndrome
  718720007	Lissencephaly type 3 metacarpal bone dysplasia syndrome
  715735007	Maternal uniparental disomy of chromosome 20
  49982000	Multifocal atrial tachycardia
  109994006	Essential thrombocythemia
  403442005	Hereditary mucoepithelial dysplasia
  239030004	Orofacial-digital syndrome III
  700058006	Ataxia-telangiectasia-like disorder
  763387005	Best vitelliform macular dystrophy
  41878001	Symbrachydactyly
  4183003	Charcot-Marie-Tooth disease, type IC
  699184009	Perry syndrome
  1268964007	Primary anaplastic oligodendroglioma of central nervous system
  39925003	Juvenile myopathy, encephalopathy, lactic acidosis, stroke
  15228007	Atrophia bulborum hereditaria
  782719004	Autosomal recessive cerebellar ataxia due to STUB1 deficiency
  733032006	Epilepsy telangiectasia syndrome
  447935001	Left ventricular myocardial noncompaction cardiomyopathy
  71464000	Dipygus
  716198008	Game Friedman Paradice syndrome
  720756005	Craniofacial ulnar renal syndrome
  718552009	Familial median cleft of upper and lower lip
  180234006	Infectious disorder of the peripheral nervous system
  771077007	Intellectual disability, short stature, hypertelorism syndrome
  763778003	Larsen-like syndrome B3GAT3 type
  1172683008	Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
  1217229007	Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
  720401009	Cystic fibrosis with gastritis and megaloblastic anemia syndrome
  765489006	Ring chromosome 7 syndrome
  726020009	Infestation caused by Cordylobia anthropophaga
  782751003	Severe combined immunodeficiency due to IKK2 deficiency
  403809003	Dystrophic epidermolysis bullosa inverse type
  719518004	Autosomal dominant palmoplantar keratoderma and congenital alopecia
  783697000	X-linked spastic paraplegia type 16
  766710005	Isolated focal cortical dysplasia
  716766007	Malakoplakia
  721843003	GAPO syndrome
  702359002	Congenital stromal corneal dystrophy
  724177005	LIG4 syndrome
  30575002	Fanconi's anemia
  472827002	Recurrent respiratory papillomatosis
  1237617004	Secondary hypereosinophilic syndrome
  721841001	Hypogonadism with mitral valve prolapse and intellectual disability syndrome
  230240004	Progressive cerebellar ataxia with hypogonadism
  15841002	21q partial monosomy syndrome
  774148007	Polyglucosan body myopathy type 1
  85444005	Disorder of pyrimidine metabolism
  733068001	Absent tibia, polydactyly, arachnoid cyst syndrome
  715470008	Brachydactylous dwarfism Mseleni type
  43363007	Posterior uveitis
  773644000	Progeroid and marfanoid aspect, lipodystrophy syndrome
  1264416003	Unclassifiable myelodysplastic syndrome
  41864002	Autoimmune polyendocrinopathy
  111310003	Ring chromosome 11 syndrome
  52951008	Congenital dyserythropoietic anemia
  733034007	Charlie M syndrome
  1197416000	Euthyroid Graves orbitopathy
  111502003	Fukuyama congenital muscular dystrophy
  254096001	Kyphomelic dysplasia
  1279838005	Hereditary sensory and autonomic neuropathy type 6
  403983000	Kaposiform hemangioendothelioma
  1217382002	Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome
  230429005	Early infantile epileptic encephalopathy with suppression bursts
  254249002	Fetal carbamazepine syndrome
  240613006	Typhus group rickettsial disease
  62588002	Congenital complete absence of limb
  720755009	Craniofacial dyssynostosis syndrome
  253591008	Pulmonary atresia with ventricular septal defect
  7199000	Tuberous sclerosis syndrome
  715652002	Mesomelic dysplasia Savarirayan type
  718848000	Fried syndrome
  201796004	Systemic onset juvenile chronic arthritis
  1216940001	Joint contractures, developmental delay, Pierre Robin syndrome
  254090007	Acromicric dysplasia
  716724006	Spinocerebellar ataxia type 15/16
  13555004	Ring chromosome 22 syndrome
  784373007	Beta-mercaptolactate cysteine disulfiduria
  25913001	Progressive iris atrophy
  234392002	Hemoglobin E/beta thalassemia disease
  274899008	Trichofolliculoma
  57863006	Acid phosphatase deficiency
  723622007	X-linked spastic paraplegia type 2
  1279835008	Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome
  783008000	Pituitary dermoid and epidermoid cysts
  78018008	Complete phocomelia of upper limb
  254093009	Cranioectodermal dysplasia
  723386002	Mendelian susceptibility to mycobacterial disease due to partial STAT1 deficiency
  715788001	Myotonia fluctuans
  720497002	Anti-human leukocyte antigen hyperimmunization
  95412009	Pigmented villonodular synovitis
  237889002	Autosomal dominant hypophosphatemic rickets
  230312006	Aicardi Goutieres syndrome
  425892007	Baroreflex failure syndrome
  716379000	Acute fatty liver of pregnancy
  725029001	Frontonasal dysplasia with alopecia and genital anomaly syndrome
  201160005	Acquired hypertrichosis lanuginosa
  722109008	Osteocraniostenosis
  773547003	13q12.3 microdeletion syndrome
  783618006	Lower motor neuron syndrome with late-adult onset
  22451001	Primary torsion dystonia
  783182004	Chronic respiratory distress with surfactant metabolism deficiency
  93559003	Hypogonadism with anosmia
  1519002	Congenital phlebectasia
  237617006	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
  1269270002	Infection-related haemolytic uraemic syndrome
  385483009	Osteogenesis imperfecta type III
  785808002	Aneurysm osteoarthritis syndrome
  1162830004	X-linked lymphoproliferative disease due to XIAP deficiency
  783738002	Heart defect, tongue hamartoma, polysyndactyly syndrome
  1172688004	Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome
  698765007	Posterior fossa brain malformation, hemangioma, arterial anomaly, cardiac defect and aortic coarctation, and eye abnormality syndrome
  711409002	3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome
  782879004	Occipital pachygyria and polymicrogyria
  763803004	Morvan syndrome
  1187506008	Autosomal recessive spastic paraplegia type 77
  360378009	Homogentisate 1,2-dioxygenase deficiency
  720633009	Cenani Lenz syndrome
  403810008	Epidermolysis bullosa pruriginosa
  43019009	Nelson syndrome
  725043006	Autosomal recessive limb girdle muscular dystrophy type 2O
  715768000	Autosomal dominant dopa responsive dystonia
  764447009	Distal trisomy 11q
  47054003	Septate vagina
  1279889005	Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome
  717192003	Familial digital arthropathy and brachydactyly syndrome
  204958008	Nephronophthisis
  715902009	Primary orthostatic tremor
  721147000	Hidrotic ectodermal dysplasia Halal type
  1268547002	Primary epithelioid sarcoma
  277810000	Trichodental syndrome
  711157000	Sudden infant death with dysgenesis of testes syndrome
  234568006	Chronic mucocutaneous candidiasis
  1263449003	Isolated encephalocele
  47024008	Sickle cell-hemoglobin E disease
  1268905005	Primary malignant peripheral nerve sheath tumour
  719299009	Pelviscapular dysplasia
  766760004	X small rings
  725592009	Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization
  721974000	Lowry MacLean syndrome
  783743009	Combined immunodeficiency with granulomatosis
  41040004	Complete trisomy 21 syndrome
  1230096008	Timothy syndrome
  255046005	Neuroendocrine tumor
  17608003	Child syndrome
  722202006	Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome
  702644002	Congenital stenosis of nasal pyriform aperture
  770631009	Genetic transient congenital hypothyroidism
  111306001	Multiple lentigines syndrome
  722476007	Thickened earlobe with conductive deafness syndrome
  28599006	Ascher's syndrome
  1197204009	Adult hepatocellular carcinoma
  715780008	Lissencephaly type 1 due to doublecortin gene mutation
  1268637008	Primary MiT family translocation renal cell carcinoma
  1230270001	Exstrophy epispadias complex
  9893005	Immunodeficiency with thymoma
  722430008	Distal trisomy 6p syndrome
  89629006	Argyria of skin
  719810000	X-linked intellectual disability with seizure and psoriasis syndrome
  253149002	Type 2 lissencephaly
  764520001	Distal trisomy 9q
  726706008	4p16.3 microduplication syndrome
  77956009	Steinert myotonic dystrophy syndrome
  1162804003	Hereditary congenital prekallikrein deficiency
  312927001	Bietti's crystalline retinopathy
  725167001	Neuroendocrine neoplasm of appendix
  717773005	COG7 congenital disorder of glycosylation
  1268712008	Primary malignant mesothelioma of peritoneum
  444231005	Thymoma
  188734009	Chronic neutrophilic leukemia
  312898002	Myopic macular degeneration
  5619004	Bardet-Biedl syndrome
  699268002	Myopathy with deficiency of iron-sulfur cluster assembly enzyme
  783160006	AGel amyloidosis
  66207005	Toxic effect of cyanide
  253299006	Double outlet right ventricle with noncommitted ventricular septal defect
  715633008	Atypical Werner syndrome
  890221004	Acrocardiofacial syndrome
  785306007	Lissencephaly with cerebellar hypoplasia type E
  707276009	Hoyeraal-Hreidarsson syndrome
  770750002	Intellectual disability, seizures, macrocephaly, obesity syndrome
  783554002	Autosomal recessive limb girdle muscular dystrophy type 2U
  373905003	Jervell and Lange-Nielsen syndrome
  718174008	Infantile striatonigral degeneration
  715409005	C syndrome
  1197746001	AKT2-related familial partial lipodystrophy
  787414001	Oligodontia
  1197418004	Familial atrial tachyarrhythmia, infra-Hisian cardiac conduction disease
  732251003	Cortical blindness, intellectual disability, polydactyly syndrome
  443094001	Paroxysmal hemicrania
  773282001	Macrosomia, microphthalmia, cleft palate syndrome
  267454002	Acatalasemia
  783005002	Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
  37981002	Allergic bronchopulmonary aspergillosis
  307607001	Chondromyxoid fibroma of bone
  783774006	External auditory canal atresia, vertical talus, hypertelorism syndrome
  770756008	2p13.2 microdeletion syndrome
  93132001	Lethal Kniest-like syndrome
  763204003	Combined oxidative phosphorylation defect type 7
  414380008	Hawkinsinuria
  764453009	Action myoclonus renal failure syndrome
  73442001	Stevens-Johnson syndrome
  721089006	Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
  715577009	Low phospholipid associated cholelithiasis
  1833005	Phacoanaphylactic endophthalmitis
  1156412000	Angiocentric glioma of central nervous system
  816067005	Woodhouse Sakati syndrome
  764733009	Progressive external ophthalmoplegia, myopathy, emaciation syndrome
  230733004	Isolated angiitis of central nervous system
  770678005	Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome
  716747007	Dicarboxylic aminoaciduria syndrome
  389162001	Acroscyphodysplasia
  716336002	Congenital amegakaryocytic thrombocytopenia
  415284008	Myelodysplastic syndrome with excess blasts-2
  237734007	ACTH-dependent Cushing's syndrome
  716743006	Familial non-autoimmune autosomal dominant hyperthyroidism
  61288004	Poisoning by venomous snake
  58833000	Pseudohypoparathyroidism type I A
  95479005	Congenital sclerocornea
  253920006	Overgrowth of upper limb
  26848004	Chorea acanthocytosis syndrome
  317349009	Vernal keratoconjunctivitis
  726622002	Spastic paraplegia with Paget disease of bone syndrome
  239910001	Toxic oil syndrome
  128101008	Platelet factor V deficiency (factor V Quebec)
  26590002	Congenital ectropion
  773688007	Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids
  715722003	Brachydactyly type A6
  430506003	Osteochondritis of tibial tubercle
  410059004	Hydroxymethylglutaric aciduria
  445738007	Myelodysplastic/myeloproliferative disease
  253152005	Laminar heterotopia
  765757003	Bilateral polymicrogyria
  62110005	Fetal methyl mercury syndrome
  238062008	Infantile Refsum's disease
  719652007	2p21 microdeletion syndrome
  733626002	Atypical Norrie disease due to monosomy Xp11.3
  725296006	Mucolipidosis type IV
  782694003	Non-distal monosomy 12q
  26865008	Congenital absence of superior vena cava
  9128006	Disorder of the gamma-glutamyl cycle
  1177166006	Frontonasal dysplasia, bifid nose, upper limb anomalies syndrome
  1268461009	Primary cholangiocarcinoma of biliary tract
  1260198000	Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance
  1149103000	Citrullinemia type I
  766977007	Severe early-onset axonal neuropathy due to mitofusin 2 deficiency
  764100007	Primary intraosseous venous malformation
  1268499002	Primary collecting duct carcinoma of kidney
  716245003	Deafness craniofacial syndrome
  1268714009	Primary nephroblastoma
  80908008	Ornithine carbamoyltransferase deficiency
  715751004	Spinocerebellar ataxia type 2
  406575008	Infection caused by vancomycin resistant Enterococcus
  234539005	Immunoglobulin heavy chain deficiency
  720415006	Acrorenoocular syndrome
  75355004	Congenital atresia of external auditory canal
  1268966009	Primary gliomatosis cerebri
  1269277004	Leukocyte adhesion deficiency type III
  61663001	Juvenile neuronal ceroid lipofuscinosis
  397734008	Hereditary sensory and autonomic neuropathy type I
  783161005	ABri amyloidosis
  19065005	Lassa fever
  64250002	Fusarium infection
  389214003	Ghosal hematodiaphyseal dysplasia
  773690008	Microcornea, posterior megalolenticonus, persistent fetal vasculature, coloboma syndrome
  715727009	Pituitary stalk interruption syndrome
  51169003	Pneumococcal meningitis
  8691004	Acquired ichthyosis
  766246000	Marburg acute multiple sclerosis
  719838008	X-linked hereditary sensory and autonomic neuropathy with deafness
  90496008	Generalized epidermolysis bullosa simplex
  82275008	Eosinophilic granulomatosis with polyangiitis
  726616006	Autosomal recessive limb girdle muscular dystrophy type 2L
  763827002	Orgasm induced epilepsy
  87607002	Pelizaeus-Merzbacher disease, classic form
  1237619001	Fatty acyl-CoA reductase 1 deficiency
  724063005	Vasculitis due to and following viral infection
  399091004	Facioscapulohumeral muscular dystrophy
  771147003	Isolated arhinencephaly
  764454003	Distal trisomy 13q
  238001003	Carnitine palmitoyltransferase I deficiency
  773576000	Progressive retinal dystrophy due to retinol transport defect
  723336008	Fallot complex with intellectual disability and growth delay syndrome
  254778000	Congenital livedo reticularis
  52298009	Linear sebaceous nevus sequence
  416069001	Thygeson superficial punctate keratitis
  774147002	Charcot-Marie-Tooth disease type 2R
  773772001	Rare non-syndromic intellectual disability
  22504001	Uterus bilocularis
  763401009	Ichthyosis prematurity syndrome
  303852004	Lysinuric protein intolerance
  765089003	Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome
  1187644009	Basel Vanagaite Smirin Yosef syndrome
  230258005	Amyotrophic lateral sclerosis with dementia
  715564000	Paroxysmal dystonic choreoathetosis with episodic ataxia and spasticity
  719298001	Pelvis shoulder dysplasia
  31047003	Lymphomatoid papulosis
  724224007	Palmoplantar keratoderma with clinodactyly syndrome
  11380006	Mucopolysaccharidosis
  3731000119107	Idiopathic hypersomnia
  770604006	X-linked cerebral, cerebellar, coloboma syndrome
  783741006	Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
  719817002	X-linked spinocerebellar ataxia type 3
  1208738002	TMEM199 congenital disorder of glycosylation
  770946000	Postaxial tetramelic oligodactyly
  1167371007	Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome
  13649004	Brachycephaly
  721879006	Microphthalmia with linear skin defect syndrome
  35962006	Nevus comedonicus
  111503008	Merosin deficient congenital muscular dystrophy
  1169356004	Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome
  737582007	Hemiparkinsonism hemiatrophy syndrome
  403767009	Acrocephalopolysyndactyly type II
  398021003	Connective tissue disease overlap syndrome
  717012004	Autosomal dominant Charcot-Marie-Tooth disease type 2E
  371076006	Congenital syringomyelia
  239124001	Wooly hair nevus
  716089008	Harrod syndrome
  722542000	Primary squamous cell carcinoma of anal canal
  2359002	Hyper-beta-alaninemia
  398723007	Verrucous epidermal nevus
  725149008	Auricular abnormality, cleft lip, ocular abnormality syndrome
  1268911008	Primary pancreatoblastoma
  253828000	Mullerian aplasia
  254819008	B-K mole (nevus) syndrome
  765471005	X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
  236805000	Congenital impairment of spermatozoa motility
  254169002	Ichthyosis bullosa of Siemens
  9982009	Poisoning by cocaine
  723998001	Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome
  720496006	Anophthalmia plus syndrome
  1157161000	Meningioma of uncertain behavior
  371987000	Primary malignant neoplasm of fallopian tube
  204145006	Cornea plana
  48553001	Hemoglobin H disease
  77121009	X-linked lymphoproliferative syndrome
  782696001	Recessive mitochondrial ataxia syndrome
  773493002	9q31.1q31.3 microdeletion syndrome
  238047006	Beta-D-mannosidosis
  1268908007	Primary Paget disease of nipple
  205130008	Central polydactyly of fingers
  1179295004	BVES-related limb girdle muscular dystrophy
  31097004	Post poliomyelitis syndrome
  1236807002	Encephalopathy due to mitochondrial and peroxisomal fission defect
  79268002	POEMS syndrome
  81604003	Mulibrey nanism syndrome
  763774001	Keipert syndrome
  719835006	Wooly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
  719510006	Autosomal dominant Charcot-Marie-Tooth disease type 2F
  5127009	Jaw-winking syndrome
  1197482007	Susceptibility to localized juvenile periodontitis
  773727009	Autosomal dominant rhegmatogenous retinal detachment
  230265002	Familial Alzheimer's disease of early onset
  715434005	Holoprosencephaly craniosynostosis syndrome
  111317000	Congenital absence of nose
  763714006	Familial multiple nevi flammei
  69463008	Maroteaux-Lamy syndrome
  42183005	Pseudohypoparathyroidism type II
  52413004	HNSHA due to glucose phosphate isomerase deficiency
  783203003	Ataxia with tapetoretinal degeneration syndrome
  61367005	Jarcho-Levin syndrome
  253137003	Alobar holoprosencephaly
  55995005	Hereditary spherocytosis
  718211004	Ehlers-Danlos syndrome kyphoscoliotic type
  387759001	Chronic granulomatous disease
  61003004	Epidermolysis bullosa
  254131007	Worth disease
  124600004	Deficiency of aromatic-L-amino-acid decarboxylase
  778069004	Autosomal dominant mandibular prognathism
  720571006	Brachydactyly type A7
  1156468009	Deep partial thickness burn
  38692000	Lipid proteinosis
  1172692006	X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
  720954000	Filippi syndrome
  707151000	Uremic pruritus
  307340003	Monosomy 7 syndrome
  719304005	Spondylometaphyseal dysplasia Schmidt type
  723451000	Pili torti onychodysplasia syndrome
  702428000	Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
  367520004	Incontinentia pigmenti syndrome
  19719003	Benign lymphocytic infiltration of Jessner
  721223002	Hirschsprung disease with nail hypoplasia and dysmorphism
  780820008	Isolated ATP synthase deficiency
  44917000	Hymenolepiasis
  1197751007	LIPE-related familial partial lipodystrophy
  700211007	Ulnar mammary syndrome
  782771007	Mitochondrial DNA depletion syndrome hepatocerebrorenal form
  1228842003	Primary cutaneous plasmacytosis
  7611002	Septo-optic dysplasia sequence
  784377008	Autosomal dominant epilepsy with auditory features
  255192005	Benign cephalic histiocytosis
  724145007	Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
  111255008	Osteonecrosis of capital femoral epiphysis
  41799005	Hereditary retinal dystrophy
  238014002	Dihydropyrimidinase deficiency
  122811000119101	Partial androgen insensitivity syndrome
  38804009	Turner syndrome
  763128009	Bipartite talus
  773691007	Congenital erosive and vesicular dermatosis
  763212006	Combined pancreatic lipase and colipase deficiency
  309776008	Costello syndrome
  716775009	Nanophthalmia
  726363000	Tetraploidy
  723404002	Microcephalic osteodysplastic dysplasia Saul Wilson type
  239888002	Lupus panniculitis
  1197359006	Familial colorectal cancer type X
  75072002	Nemaline myopathy
  67653003	Pretibial epidermolysis bullosa
  716860005	Cyclosporosis
  716024001	GMS syndrome
  1208987006	PHIP-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome
  24629003	Metaphyseal chondrodysplasia, Jansen type
  1197059004	Congenital ichthyosis, microcephalus, tetraplegia syndrome
  733033001	Spinocerebellar ataxia dysmorphism syndrome
  203923004	Acrania
  716094008	Saito Kuba Tsuruta syndrome
  725433003	Autosomal recessive cerebellar ataxia Beauce type
  725044000	Carbohydrate deficient glycoprotein syndrome type 1o
  715425000	Benign focal seizure of adolescence
  1268539002	Primary metaplastic carcinoma of breast
  417604002	Axenfeld-Rieger syndrome
  717765001	CLAPO syndrome
  763745005	Intellectual disability Wolff type
  770758009	New-onset refractory status epilepticus
  1217372003	Severe myopia, generalized joint laxity, short stature syndrome
  725097006	Crisponi syndrome
  827162007	Malignant immature teratoma of ovary
  721301004	Myeloid and lymphoid neoplasm with fibroblast growth factor receptor 1 abnormality
  717267005	Left renal vein entrapment syndrome
  716020005	Diabetic embryopathy
  1197429000	Cathepsin A-related arteriopathy, strokes, leukoencephalopathy
  230719004	Subarachnoid hemorrhage due to ruptured aneurysm
  770404004	Autosomal recessive chorioretinopathy and microcephaly syndrome
  724096007	Congenital disorder of glycosylation type 1f
  129451001	Respiratory bronchiolitis associated interstitial lung disease
  33979003	Nievergelt's syndrome
  66865009	Congenital duplication of esophagus
  782689003	Congenital pseudoarthrosis of limb
  723307008	Ethylmalonic encephalopathy
  33116002	Hydroxykynureninuria
  397013007	Solitary cutaneous mastocytoma
  410039003	Mycetoma
  770623004	Benign occipital lobe epilepsy
  186499007	Encephalitis lethargica
  722061006	Oculoosteocutaneous syndrome
  237252008	Placental site trophoblastic tumor
  46619002	Congenital heart block
  732928005	Humerus trochlea aplasia
  732933009	Autosomal recessive spastic paraplegia type 25
  1187132007	Sugarman brachydactyly
  17818006	Leri-Weill dyschondrosteosis
  13172003	Chronic idiopathic thrombocytopenic purpura
  785727000	Chronic infantile diarrhea due to guanylate cyclase 2C overactivity
  23447005	GTP cyclohydrolase I deficiency
  34513009	Zebra body myopathy
  782886007	Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome
  1172705006	Lethal hydranencephaly, diaphragmatic hernia syndrome
  721076000	Siegler Brewer Carey syndrome
  786076007	Congenital pit of optic disc
  770559003	Leiomyosarcoma of corpus uteri
  205306000	Congenital complete absence of upper limb
  1197489003	Familial chylomicronemia syndrome
  1172590009	Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome
  720500008	Aplasia cutis congenita with intestinal lymphangiectasia syndrome
  235729009	Congenital microvillous atrophy
  763632004	Startle epilepsy
  725165009	Autosomal dominant omodysplasia
  52985009	Chylous ascites
  763211004	Combined oxidative phosphorylation defect type 21
  187151009	Diphyllobothriasis
  719380003	Microcephalus cardiomyopathy syndrome
  80902009	Neutral 1 amino acid transport defect
  445252005	Glucose transporter protein type 1 deficiency syndrome
  782752005	Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
  16360009	Delta beta thalassemia
  239112008	Epidermal nevus syndrome
  11226001	Fuchs' heterochromic cyclitis
  721307000	Transient abnormal myelopoiesis
  254083002	Chondrodysplasia punctata, MT type
  762254000	Congenital dysplasia of tricuspid valve
  65455002	Nasal encephalocele
  1230004003	Supratip dysplasia
  442652006	Infection by Anisakis larva
  734026006	Isolated congenital megalocornea
  58718002	Rheumatic fever
  702450004	FOXG1 syndrome
  399995006	Inflammatory linear verrucous epidermal nevus
  1268962006	Primary polyembryoma
  722055008	Oculopalatocerebral syndrome
  718849008	X-linked neurodegenerative syndrome Bertini type
  782914000	Brachydactyly, short stature, retinitis pigmentosa syndrome
  782935003	Tremor, nystagmus, duodenal ulcer syndrome
  1172604004	DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
  1179282009	Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract
  716655008	Aggressive systemic mastocytosis
  46041001	Maffucci syndrome
  20415001	Progressive sclerosing poliodystrophy
  37548006	Hypopigmentation-immunodeficiency disease
  717941005	Body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency
  782829002	Autosomal dominant Charcot-Marie-Tooth disease type 2O
  722392003	Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells
  237117005	Endometriosis outside pelvis
  773622005	Craniofacial dysplasia osteopenia syndrome
  699267007	Myosin storage myopathy
  720636001	Cholestasis with pigmentary retinopathy and cleft palate syndrome
  715632003	Oculocutaneous albinism type 4
  763768001	Autosomal recessive exfoliative ichthyosis
  717825008	Hereditary sensory and autonomic neuropathy type 1B
  783065004	Autosomal recessive optic atrophy type 7
  297257004	Glycerol kinase deficiency - contiguous gene syndrome
  719207000	Spinocerebellar ataxia type 11
  721700001	Primary malignant neuroendocrine neoplasm of rectum
  773626008	Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome
  1254654006	X-linked intellectual disability, hypotonia, movement disorder syndrome
  719665003	5q35 microduplication syndrome
  720750004	Corneal cerebellar syndrome
  734066005	Diffuse large B-cell lymphoma of central nervous system
  425333006	Myeloproliferative disorder
  726613003	Ketamine-induced biliary dilatation
  733111000	Congenital disorder of glycosylation type 1w
  722461004	Meacham syndrome
  764623009	Mosaic trisomy 2 syndrome
  724642009	Myeloid neoplasm associated with beta-type platelet-derived growth factor receptor gene rearrangement
  400040008	Hereditary lymphedema type II
  277568007	Hairy cell leukemia variant
  715987000	Sonoda syndrome
  84438001	Pure autonomic failure
  719250005	Spinocerebellar ataxia type 18
  371627004	ACE inhibitor-aggravated angioedema
  403735006	Eosinophilia-myalgia syndrome from tryptophan
  722294004	Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
  763369007	Autosomal dominant spastic paraplegia type 37
  7484005	Double outlet right ventricle
  307343001	Acquired hemoglobin H disease
  45414006	Glucocorticoid deficiency with achalasia
  715442006	Syndactyly of fingers type 8
  770942003	Kostmann syndrome
  723676007	Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
  784372002	Familial mesial temporal lobe epilepsy with febrile seizures
  254129003	Osteopathia striata with cranial sclerosis
  28488007	Hyperkeratosis lenticularis perstans
  1197593006	Intellectual disability, expressive aphasia, facial dysmorphism syndrome
  232373003	Choanal atresia with radial ray hypoplasia
  360455002	Coats' disease
  718212006	TMEM70 related mitochondrial encephalo-cardio-myopathy
  373425009	Corneal endotheliitis
  719456001	Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome
  56271007	Hypothermia-sweating syndrome
  231896005	Acanthamoeba keratitis
  720609003	Cardiomyopathy with cataract and hip spine disease syndrome
  109478007	Kohlschutter's syndrome
  290680001	Methotrexate poisoning
  230413002	Juvenile absence epilepsy
  253528005	Arrhythmogenic right ventricular dysplasia
  771272007	Congenital muscular dystrophy due to LMNA mutation
  766987006	Moebius syndrome
  1268502003	Primary embryonal sarcoma of liver
  389263004	Astley-Kendall dysplasia
  238044004	Mucopolysaccharidosis, MPS-IV-B
  783205005	Alopecia antibody deficiency
  52636001	Actinic reticuloid
  720466001	Adult-onset dystonia parkinsonism
  1162918009	Infective dermatitis associated with human T-cell lymphotropic virus 1 infection
  768554008	Hypermanganesemia with dystonia 2
  1264081007	Persistent left superior vena cava connecting through coronary sinus to left sided atrium
  15123008	Familial amyloid nephropathy with urticaria AND deafness
  17568006	Sclerosteosis
  716771000	Chronic hiccup
  33595009	Arachnoid cyst
  430042004	Acute pandysautonomia
  719450007	Disorder of sex development with intellectual disability syndrome
  231996009	Central areolar choroidal sclerosis
  721095007	Diaphragmatic defect, limb deficiency, skull defect syndrome
  733044009	Dermatoleukodystrophy
  34287003	Sinus histiocytosis with massive lymphadenopathy
  439702007	Hereditary protein S deficiency
  784392009	Adult chronic idiopathic neutropenia
  61860000	Porphyria cutanea tarda
  1269177007	Acute tricyclic antidepressant poisoning
  237946002	Partial deficiency of methylmalonyl-CoA mutase
  192644005	Meningococcal meningitis
  722434004	Dysspondyloenchondromatosis
  41545003	Whipple's disease
  18910001	Cleft uvula
  275446004	Painful bruising syndrome
  764849002	Amyloidosis cutis dyschromia
  733112007	Congenital disorder of glycosylation type 1x
  715215007	WAGR syndrome
  719041000	Upington disease
  234380002	Kell isoimmunization of the newborn
  31712002	Primary biliary cholangitis
  770669004	Paternal uniparental disomy of chromosome 5
  723721007	Sensorineural hearing loss, early graying, essential tremor syndrome
  1237571004	Benign familial infantile epilepsy
  722379001	Congenital cataract with hypertrichosis and intellectual disability syndrome
  63042009	Congenital atresia of tricuspid valve
  69093006	Rothmund-Thomson syndrome
  702443003	Auriculo-condylar syndrome
  720827002	Multiple mitochondrial dysfunctions syndrome
  1169363004	Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome
  39788007	Ectrodactyly-ectodermal dysplasia-clefting syndrome
  192782005	Galactosylceramide beta-galactosidase deficiency
  359686005	Van Bogaert's sclerosing leukoencephalitis
  722122000	Overgrowth, macrocephaly, facial dysmorphism syndrome
  782746009	Autosomal recessive spastic paraplegia type 60
  770626007	Congenital Horner syndrome
  700062000	Schöpf-Schulz-Passarge syndrome
  38795005	Sialidosis
  1208747005	ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
  204312002	Ventricular septal defect between left ventricle and right atrium
  720951008	Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3
  770630005	Distal hereditary motor neuropathy type 1
  235724004	Acquired short bowel syndrome
  79607001	Congenital hepatic fibrosis
  60876000	Gardner syndrome
  1268717002	Primary oligodendroglioma
  448915004	Cleft of hard palate
  239035009	Ectodermal dysplasia with hair-nail defect
  26745009	Mucopolysaccharidosis, MPS-I-H/S
  719218000	Cryptogenic organizing pneumonia
  724999003	Isolated hypoplasia of optic nerve
  234608003	Terminal component deficiency
  711158005	Spinocerebellar ataxia type 36
  33410002	Marshall syndrome
  70348004	Pendred's syndrome
  722064003	Odontoleukodystrophy
  724170007	Mesoaxial synostotic syndactyly with phalangeal reduction syndrome
  723994004	Seizures and intellectual disability due to hydroxylysinuria
  44423001	Early myoclonic encephalopathy
  770683002	Secondary syringomyelia
  63684002	Hereditary hollow viscus myopathy
  418818005	Brugada syndrome
  715645004	Hereditary thermosensitive neuropathy
  1156407001	Myxopapillary ependymoma of spinal cord
  765221009	Papular xanthoma
  771223000	Infantile epileptic dyskinetic encephalopathy
  422437002	X-linked intellectual disability with marfanoid habitus
  715506001	Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome
  711482008	Cerebroretinal microangiopathy with calcifications and cysts
  719595002	Absence of fingerprints with congenital milia syndrome
  1217228004	X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
  778045003	Susceptibility to viral and mycobacterial infection
  78642008	Ocular albinism, type I
  702617007	Acute generalized exanthematous pustulosis
  1187124004	Apolipoprotein A-IV amyloidosis
  58258004	Infantile neuronal ceroid lipofuscinosis
  763615003	Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome
  716787002	Extraventricular neurocytoma
  785725008	Palmoplantar keratoderma, spastic paralysis syndrome
  722280000	Ackerman syndrome
  773728004	Corticosteroid-binding globulin deficiency
  724176001	Lipodystrophy due to peptidic growth factors deficiency
  1208985003	Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies
  17234001	Allantoic cyst
  773305003	Microcephaly, polymicrogyria, corpus callosum agenesis syndrome
  786041005	Congenital systemic arteriovenous fistula
  783553008	Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome
  764096006	Male infertility with teratozoospermia due to single gene mutation
  763744009	Intellectual disability, brachydactyly, Pierre Robin syndrome
  719278006	Primary dystonia type 13
  79261008	Van der Woude syndrome
  773328002	Infantile onset panniculitis with uveitis and systemic granulomatosis
  1228860003	Spondyloepiphyseal dysplasia Stanescu type
  763713000	Idiopathic CD4 lymphocytopenia
  190787008	Abetalipoproteinemia
  416633008	Congenital hereditary endothelial dystrophy type 1
  254784002	Blue rubber bleb nevus
  765401006	Mitochondrial DNA depletion syndrome encephalomyopathic form
  718764004	Spondyloepiphyseal dysplasia Reardon type
  733037000	German syndrome
  403790004	Palmoplantar hyperkeratosis-hyperpigmentation syndrome of Cantu
  716994006	Behavioral variant of frontotemporal dementia
  238092004	Fish-eye disease
  720457000	Acropectorovertebral dysplasia
  1268706003	Primary malignant granulosa cell tumour of ovary
  715426004	X-linked corneal dermoid
  765486004	Ring chromosome 3 syndrome
  73397007	Heparin-induced thrombocytopenia
  722288007	Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome
  771261002	Digital extensor muscle aplasia with polyneuropathy
  789156003	Focal facial dermal dysplasia
  773501006	Epidermolysis bullosa simplex due to BP230 deficiency
  725046003	Acyl-CoA dehydrogenase 9 deficiency
  1208746001	Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
  27312002	High molecular weight kininogen deficiency
  717330004	Spondyloepimetaphyseal dysplasia Irapa type
  32883009	Oral submucosal fibrosis
  29352008	Thanatophoric dysplasia
  13003007	Cystathioninuria
  734022008	Wolfram-like syndrome
  1162837001	Symphalangism Cushing type
  1186725001	Warts, immunodeficiency, lymphedema, anogenital dysplasia syndrome
  783007005	Recurrent Neisseria infection due to factor D deficiency
  9417000	Platelet dense granule deficiency
  56692003	Rhizomelic chondrodysplasia punctata syndrome
  719989007	Autosomal dominant limb girdle muscular dystrophy type 1F
  766872002	Parkinsonism caused by cyanide
  787091002	Adenocarcinoma of liver and intrahepatic biliary tract
  763618001	Wiedemann Steiner syndrome
  186772009	Rocky Mountain spotted fever
  6204001	Juvenile myoclonic epilepsy
  1260463008	Isolated focal non-epidermolytic palmoplantar keratoderma
  65389002	Adrenoleukodystrophy
  4434006	Bloom syndrome
  314558005	Fungal keratitis
  197441003	Primary sclerosing cholangitis
  723823004	Autosomal recessive spastic paraplegia type 53
  723828008	Autosomal recessive bestrophinopathy
  719827008	X-linked immunoneurologic disorder
  60983006	Congenital esophagotracheal fistula
  782726004	Autosomal recessive spastic paraplegia type 71
  25606004	Ehlers-Danlos syndrome, hydroxylysine-deficient
  733038005	Dysmorphism, pectus carinatum, joint laxity syndrome
  724279004	Combined oxidative phosphorylation defect type 5
  778046002	Somatomammotropinoma
  237733001	Diencephalic syndrome
  721074002	Short stature due to primary acid labile subunit deficiency
  425868004	Benign papilloma of choroid plexus
  733605002	XY type gonadal dysgenesis with associated anomalies syndrome
  118615008	Malignant mast cell tumor (clinical)
  771078002	Immunodeficiency due to MASP-2 deficiency
  404071006	Pleomorphic liposarcoma
  70273001	Poisoning caused by acetaminophen
  702379005	Hypomyelination and congenital cataract
  716107009	Early onset parkinsonism and intellectual disability syndrome
  774155009	Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
  47683004	Metachromatic leukodystrophy, late infantile type
  717811007	Combined immunodeficiency due to CRAC (calcium release activated calcium) channel dysfunction
  1187123005	Mixed phenotype acute leukemia
  720986005	Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome
  403661001	Lipoatrophy caused by injected drug
  128596003	Medium-chain acyl-coenzyme A dehydrogenase deficiency
  403390002	Primary erythromelalgia
  732951005	Mitochondrial myopathy, lactic acidosis, deafness syndrome
  30287008	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
  787174003	Intellectual disability, hyperkinetic movement, truncal ataxia syndrome
  771236000	Visceral calciphylaxis
  715530004	Tetrasomy of short arm of chromosome 9
  702417004	Emanuel syndrome
  254739004	Elastofibroma of skin
  1187510006	Immunoglobulin G4 related ophthalmic disease
  715653007	Spondylo-ocular syndrome
  239063006	Erythrokeratoderma progressiva of Gottron
  1186730002	Gabriele-de Vries syndrome
  60684003	SAPHO syndrome
  717407006	Congenital plasminogen activator inhibitor deficiency type 1
  239021007	Hypodontia and nail dysgenesis
  16541001	Yellow fever
  719517009	Autosomal dominant optic atrophy and cataract
  733031004	Epilepsy, microcephaly, skeletal dysplasia syndrome
  771271000	Steroid-responsive encephalopathy associated with autoimmune thyroiditis
  789676005	Blue cone monochromatism
  1172697000	X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
  1172594000	Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome
  720941007	ALG1 congenital disorder of glycosylation
  723403008	Microbrachycephaly, ptosis, cleft lip syndrome
  1255267007	Mirror-image polydactyly
  26624006	Anodontia
  88393000	Sanfilippo syndrome
  448710000	Sarcoma of bone
  230256009	Benign monomelic amyotrophy
  732950006	Ichthyosis, oral and digital anomalies syndrome
  389171005	Yunis-Varon dysplasia
  1144805008	Microscopic polyangiitis
  75331009	Evans syndrome
  20392000	Congenital entropion
  770603000	X-linked spondyloepimetaphyseal dysplasia
  783096008	Subaortic stenosis and short stature syndrome
  86044005	Amyotrophic lateral sclerosis
  1269042005	Primary protoplasmic astrocytoma of brain
  703334000	Arteriovenous malformation of mandible
  771512003	Autism spectrum disorder due to AUTS2 deficiency
  770727008	Spinal muscular atrophy with respiratory distress type 2
  1208340009	Neurofibromatosis type 6
  764957003	King Denborough syndrome
  238061001	Neonatal adrenoleukodystrophy
  715725001	Syndactyly type 3
  11817007	Actinomycotic infection
  1172838005	Hereditary sensory and autonomic neuropathy type 8
  763864008	Persistent polyclonal B-cell lymphocytosis
  111504002	Walker-Warburg congenital muscular dystrophy
  5388008	Congenital lactase deficiency
  773641008	Onychocytic matricoma
  267372009	Congenital non bullous ichthyosiform erythroderma
  3073006	Ruvalcaba syndrome
  719405005	Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
  770565003	Microcephalic primordial dwarfism Dauber type
  768932000	Coloboma of choroid and retina
  764737005	Squamous cell carcinoma of corpus uteri
  771265006	Teebi Shaltout syndrome
  771307003	Charcot-Marie-Tooth disease type 2B5
  773230003	Cyclin-dependent kinase-like 5 deficiency
  715419004	Lethal congenital contracture syndrome type 2
  55133004	Multi-core congenital myopathy
  1268898002	Primary mixed oligoastrocytoma
  1222666002	EPHB4-related lymphatic-related hydrops fetalis
  254886006	Squamous cell carcinoma of cervix
  765746008	Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
  718176005	Autosomal recessive limb girdle muscular dystrophy type 2C
  773308001	Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
  400954002	Euryblepharon
  26409005	Congenital dyserythropoietic anemia, type III
  313426007	Kabuki make-up syndrome
  1260203008	EVEN-plus syndrome
  723716009	Severe generalized recessive dystrophic epidermolysis bullosa
  716772007	Roch Leri mesosomatous lipomatosis
  254085009	Metaphyseal anadysplasia
  765196004	Distal myotilinopathy
  1237511005	EMILIN-1-related connective tissue disease
  1172591008	Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
  783549006	Obesity due to CEP19 deficiency
  716742001	Multiple osteochondroma
  765330003	Autosomal dominant polycystic kidney disease
  715197005	Fetal parvovirus syndrome
  703532002	Cap myopathy
  783766005	Autosomal recessive secondary polycythemia not associated with VHL (Von Hippel Lindau) gene
  65110003	Tropical pyomyositis
  783136007	Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
  28183005	Fructose-biphosphatase deficiency
  1144933009	Recurrent infection due to immunoglobulin isotype deficiency
  698851003	SOX2 anophthalmia syndrome
  1187042007	Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
  787412002	Short chain acyl-coenzyme A dehydrogenase deficiency
  78495000	Cleft leaflet of mitral valve
  765190005	Fibrothecoma of ovary
  707435002	Neuroendocrine cell hyperplasia of infancy
  234020005	Vasculitis secondary to drug
  25792000	Kearns-Sayre syndrome
  1515008	Gorham's disease
  764686003	Autosomal recessive spastic paraplegia type 15
  733729003	Primary localized cutaneous amyloidosis
  711155008	ALG12-congenital disorder of glycosylation
  699297004	Ohdo syndrome, Maat-Kievit-Brunner type
  720753002	Cranioosteoarthropathy
  445448008	Acute myeloid leukemia with myelodysplasia-related changes
  52186006	Dysmorphic sialidosis
  445105005	Blastic plasmacytoid dendritic cell neoplasm
  403492006	Hypertrophic type discoid lupus erythematosus
  713401006	Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria
  719377004	Microcephalus with albinism and digital anomaly syndrome
  64036004	Reactive perforating collagenosis
  230422001	Epilepsy with myoclonic absence
  721091003	Dermo-odonto dysplasia
  128209004	Chronic inflammatory demyelinating polyradiculoneuropathy
  14921002	Aarskog syndrome
  723304001	Microcephaly, seizure, intellectual disability, heart disease syndrome
  770625006	Combined immunodeficiency with faciooculoskeletal anomalies syndrome
  1237462006	NDE1-related microhydranencephaly
  715821000	Lissencephaly with cerebellar hypoplasia type D
  773425000	Autosomal recessive spastic paraplegia type 59
  1197595004	Thrombomodulin-related bleeding disorder
  297195000	Macrodactyly of hand
  774208009	SCALP syndrome
  772224009	Warburg micro syndrome
  1222646006	Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome
  1222659003	RNF13-related severe early-onset epileptic encephalopathy
  770755007	Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
  787411009	Monosomy 22 syndrome
  764860006	3-methylglutaconic aciduria type 7
  109969005	Diffuse non-Hodgkin's lymphoma, large cell (clinical)
  719272007	Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome
  725464001	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
  718219002	Congenital lactic acidosis Saguenay-Lac-Saint-Jean type
  1197151003	Autosomal recessive isolated optic atrophy
  732927000	Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome
  720977000	ALG8 congenital disorder of glycosylation
  722456001	Intellectual disability, developmental delay, contracture syndrome
  1197747005	Autosomal semi-dominant severe lipodystrophic laminopathy
  254956000	Pituitary adenoma
  723991007	Angio-osteohypertrophic syndrome
  56661000	Intestinal enteropeptidase deficiency
  789657008	ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis
  1197053003	Melorheostosis with osteopoikilosis
  404013002	Angiomatoid fibrous histiocytoma of skin
  719017003	X-linked intellectual disability Armfield type
  717222003	Microphthalmia with ankyloblepharon and intellectual disability syndrome
  239920006	Adult onset Still's disease
  371423007	Isosporiasis
  237444008	Granulomatous mastitis
  109471001	Amelogenesis imperfecta, hypocalcification type
  766721001	Paternal uniparental disomy of chromosome 7
  720816004	Craniosynostosis and intracranial calcification syndrome
  405752007	Congenital atrial septal defect
  708026002	Chronic pneumonitis of infancy
  45582004	Rubinstein-Taybi syndrome
  724001005	Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome
  724178000	Laryngeal abductor paralysis with intellectual disability syndrome
  784343003	Autosomal recessive spastic ataxia with leukoencephalopathy
  783204009	Ankyloblepharon filiforme adnatum with cleft palate syndrome
  718097008	Pulmonary nodular lymphoid hyperplasia
  403762003	Odonto-onycho-dermal dysplasia
  14168008	Rabies
  1268349000	Primary endometrioid carcinoma of ovary
  406619001	Infection caused by Toxocara
  441944007	Oto-onycho-peroneal syndrome
  768925009	Mucinous cystadenoma of ovary in childhood
  1228886008	9q33.3q34.11 microdeletion syndrome
  1187277001	Short stature, brachydactyly, obesity, global developmental delay syndrome
  1208720000	Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
  49292002	Familial partial lipodystrophy
  1231148002	Linear verrucous nevus syndrome
  1260181000	Benign metanephric tumour
  770435005	Familial bicuspid aortic valve
  719814009	X-linked mendelian susceptibility to mycobacterial disease
  609529006	Persistent Blake's pouch cyst
  253544001	Congenital left ventricular aneurysm
  1172586007	Ocular anomalies, axonal neuropathy, developmental delay syndrome
  783723003	Mixed sclerosing bone dystrophy with extra-skeletal manifestation
  254185007	Dystrophic epidermolysis bullosa
  716239006	Tungland Bellman syndrome
  25065001	Hemoglobin E disease
  718634003	Cutaneous collagenous vasculopathy
  124258007	Deficiency of acetyl-CoA acetyltransferase
  718882006	X-linked severe congenital neutropenia
  787484007	Progressive avascular necrosis of lunate
  726082003	Immunotactoid glomerulonephritis
  715415005	Richards-Rundle syndrome
  721094006	Diaphanospondylodysostosis
  128100009	Mixed alpha granule and dense body deficiency
  724141003	Microcephalic primordial dwarfism due to ZNF335 deficiency
  1187114007	Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome
  702425002	Hand-foot-genital syndrome
  723552005	Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency
  1251488008	Spondylodysplastic Ehlers-Danlos syndrome
  403770008	Cardio-facio-cutaneous syndrome
  63119004	Weaver syndrome
  1156835005	Autosomal dominant Charcot-Marie-Tooth disease type 2
  43152001	Central core disease
  448045004	Fragile X associated tremor ataxia syndrome
  699311001	22q11.2 duplication syndrome
  1179284005	Severe combined immunodeficiency due to LAT deficiency
  1162826002	Split spinal cord malformation type I
  235728001	Autoimmune enteropathy
  1208338004	Dysraphism, cleft lip and palate, limb reduction defect syndrome
  1269347008	Primary carcinosarcoma of corpus uteri
  715482004	Microcephalic primordial dwarfism Toriello type
  613003	Fragile X syndrome
  733095006	Skeletal dysplasia brachydactyly syndrome
  718095000	Schisis association syndrome
  703530005	Brody myopathy
  1229979007	Osteonecrosis due to trauma
  239802003	Juvenile psoriatic arthritis
  445257004	Nance-Horan syndrome
  234571003	Warts, hypogammaglobulinemia, infections, and myelokathexis
  717264003	Autosomal dominant brachyolmia
  721883006	Radioulnar synostosis with developmental delay and hypotonia syndrome
  1279887007	Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome
  1179294000	Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome
  722060007	Oculogastrointestinal muscular dystrophy
  783767001	Autosomal recessive hyperinsulinism due to SUR1 deficiency
  15629411000119106	Subependymoma of brain
  716706009	Female restricted epilepsy with intellectual disability syndrome
  400140006	Junctional epidermolysis bullosa gravis of Herlitz
  702381007	Horizontal gaze palsy with progressive scoliosis
  1230308005	Off-periods in Parkinson disease not responding to oral treatment
  274864009	Glycogen storage disease due to acid maltase deficiency
  773503009	Epidermolysis bullosa simplex due to exophilin 5 deficiency
  1268901001	Primary retinoblastoma of retina
  783058007	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  253176002	Gillespie syndrome
  724647003	Diffuse large B-cell lymphoma co-occurrent with chronic inflammation caused by Epstein-Barr virus
  721887007	Puerto Rican infant hypotonia syndrome
  63650001	Cholera
  128115005	Pseudo von Willebrand disease
  783250007	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
  723830005	Keratosis follicularis, dwarfism, cerebral atrophy syndrome
  24354007	Poisoning by colchicine
  82385007	Budd-Chiari syndrome
  723440000	Nephrogenic syndrome of inappropriate antidiuresis
  77721001	Opioid intoxication
  720746006	Contracture with ectodermal dysplasia and orofacial cleft syndrome
  717008005	Autosomal dominant Charcot-Marie-Tooth disease type 2B
  238612002	Generalized pustular psoriasis
  1237515001	Alkaline ceramidase 3 deficiency
  126949007	Acoustic neuroma
  733457006	Ehlers-Danlos and osteogenesis imperfecta syndrome
  22607003	Asbestosis
  771182002	Thumb deformity, alopecia, pigmentation anomaly syndrome
  57119000	Hyperammonemia, type III
  1230291009	Primary biliary cholangitis and/or primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome
  77817004	Neu-Laxova syndrome
  716193004	Short stature with valvular heart disease and characteristic facies syndrome
  719659003	2q32q33 microdeletion syndrome
  733082001	Early-onset Lafora body disease
  766753005	Nijmegen breakage syndrome-like disorder
  92818009	Chronic myeloid leukemia
  57218003	Cholesterol ester storage disease
  763830009	Oculomaxillofacial dysostosis
  763457000	X-linked Charcot-Marie-Tooth disease type 2
  703525006	Anhidrotic ectodermal dysplasia with immune deficiency
  733468006	Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome
  5300004	Hemoglobin Bart's hydrops syndrome
  718196002	Beta thalassemia X-linked thrombocytopenia syndrome
  304603007	Variant Creutzfeldt-Jakob disease
  702364003	Chylomicron retention disease
  118600007	Malignant lymphoma
  767263007	22q11.2 deletion syndrome
  276508000	Hydrops fetalis
  765331004	Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
  716334004	Urban Rogers Meyer syndrome
  51952004	Spondyloepiphyseal dysplasia tarda
  230314007	Sandifer syndrome
  19754005	Alopecia totalis
  51485001	Congenital coloboma of iris
  720983002	Amaurosis hypertrichosis syndrome
  723499000	Ring dermoid of cornea
  707510005	Secondary pulmonary alveolar proteinosis
  14637005	Late-infantile neuronal ceroid lipofuscinosis
  723076008	Primary myxofibrosarcoma
  702358005	Persistent Müllerian duct syndrome
  1186652002	Inflammatory bowel disease, recurrent sinopulmonary infection syndrome
  721877008	Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency
  449824004	Marden Walker syndrome
  1217379007	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy
  1230002004	Liver adenomatosis
  725591002	Congenital enterocyte heparan sulfate deficiency
  702437000	Amish lethal microcephaly
  716660007	Congenital Epstein-Barr virus infection
  254054000	Boomerang dysplasia
  721978002	Lymphedema, atrial septal defect, facial changes syndrome
  765485000	Ring chromosome 2 syndrome
  715242008	Ulna metaphyseal dysplasia syndrome
  733094005	Dandy-Walker malformation with postaxial polydactyly syndrome
  766708008	Isochromosomy Yp
  61758007	Exstrophy of bladder sequence
  723720008	SERKAL syndrome
  253326008	Coronary sinus orifice atresia
  78317008	XXXY syndrome
  716090004	Haspeslagh Fryns Muelenaere syndrome
  715391004	Blepharophimosis epicanthus inversus ptosis syndrome
  783166000	Distal anoctaminopathy
  81211007	Primary lateral sclerosis
  400142003	Epidermolytic epidermal nevus
  83579008	Mixed gonadal dysgenesis
  719268008	Progressive non-infectious anterior vertebral fusion
  719254001	Spinocerebellar ataxia type 32
  722391005	Congenital lethal erythroderma
  1208482007	Distal arthrogryposis type 10
  720408003	Acrofrontofacionasal dysostosis
  770436006	Familial juvenile hypertrophy of the breast
  720465002	Adult-onset autosomal recessive sideroblastic anemia
  230591002	Motor neuropathy with multiple conduction block
  724276006	X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome
  1228844002	1p35.2 microdeletion syndrome
  57451009	Congenital tracheobronchomegaly
  50581000	Goodpasture's syndrome
  763280005	Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
  1230310007	FTH1-related iron overload
  1255335006	X-linked intellectual disability, short stature, overweight syndrome
  724067006	Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
  732958004	Spastic paraplegia with precocious puberty syndrome
  1172602000	Childhood-onset benign chorea with striatal involvement
  1148758003	Congenital microcephaly
  400179000	Precocious puberty
  789063000	Primary hyperaldosteronism, seizures, neurological abnormalities syndrome
  82500001	Wolman's disease
  771267003	Congenital muscular dystrophy with integrin alpha-7 deficiency
  763067000	Autosomal dominant congenital benign spinal muscular atrophy
  719161008	Syndromic X-linked intellectual disability due to JARID1C mutation
  709413001	Isolated hyperchlorhidrosis
  43876007	Situs inversus viscerum
  722436002	Dystrophic epidermolysis bullosa nails only
  711151004	Hypomagnesemia with secondary hypocalcemia
  92100009	Benign neoplasm of fallopian tube
  237997005	Very long chain acyl-CoA dehydrogenase deficiency
  81771002	Opitz-Frias syndrome
  768555009	5q31.3 microdeletion syndrome
  719021005	DK phocomelia syndrome
  782758009	Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome
  38023001	Locked in syndrome
  711407000	Thrombocytopathy, asplenia and miosis
  1237344003	Symptomatic form of fragile X syndrome in female carrier
  56717001	Tuberculosis
  733467001	Hereditary anetoderma
  771513008	Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
  1963002	Paroxysmal nocturnal hemoglobinuria
  723407009	Muscular dystrophy Selcen type
  1208939001	Progressive myoclonic epilepsy type 7
  91521000119104	Narcolepsy without cataplexy
  765090007	Poisoning caused by monochloroacetic acid
  26132002	5-Oxoprolinase deficiency
  1172593006	Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome
  716180009	Boder syndrome
  230496009	Non-24 hour sleep-wake cycle
  724284005	Hypertelorism Teebi type
  191189009	Beta thalassemia intermedia
  239055005	Hereditary clubbing
  722059002	Oculocutaneous albinism type 7
  89420002	Pulmonary veno-occlusive disease
  403833009	TNF receptor-associated periodic fever syndrome (TRAPS)
  720430002	Acrofacial dysostosis Rodriguez type
  768946000	Stevens-Johnson syndrome, toxic epidermal necrolysis spectrum
  56090007	Pseudohypoparathyroidism type I B
  1269049001	Primary giant cell glioblastoma of central nervous system
  85020001	Cystinuria
  21086008	Cockayne syndrome
  254186008	Localized dystrophic epidermolysis bullosa
  398523009	Foodborne botulism
  95467005	Congenital tracheomalacia
  721297008	Galloway Mowat syndrome
  118605002	Hodgkin lymphoma, nodular lymphocyte predominance (clinical)
  718910006	X-linked intellectual disability Stocco Dos Santos type
  716174001	Oculocerebral hypopigmentation syndrome of Preus type
  58256000	Dihydropteridine reductase deficiency
  783246000	Megalocornea, spherophakia, secondary glaucoma syndrome
  720757001	Craniofrontonasal dysplasia with Poland anomaly syndrome
  791000124107	2-methyl-3-hydroxybutyric aciduria
  782910009	Seborrhea-like dermatitis with psoriasiform elements
  783551005	Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
  721017000	Oliver syndrome
  134209002	Prolactinoma
  48543002	Nevus of Ito
  63711009	Brachydactyly syndrome type E
  770679002	Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome
  770793002	5p13 microduplication syndrome
  29159009	Familial dysautonomia
  773549000	Maternal riboflavin deficiency
  698253007	Ultraviolet sensitive syndrome
  717895004	Hypoparathyroidism due to impaired PTH secretion
  719302009	Spinocerebellar ataxia type 5
  732248005	Coxoauricular syndrome
  1237339005	Severe primary trimethylaminuria
  787407003	Muenke syndrome
  1197756002	Proximal myopathy with focal depletion of mitochondria
  719276005	Primary dystonia type 4
  771238004	Spinal atrophy, ophthalmoplegia, pyramidal syndrome
  719136005	X-linked intellectual disability with cerebellar hypoplasia syndrome
  118607005	Lymphocyte-rich classical Hodgkin lymphoma
  278098005	Crandall's syndrome
  717964007	Juvenile primary lateral sclerosis
  1269234000	Predisposition to severe viral infection due to IRF7 deficiency
  717742006	Primary renal dysplasia
  716387004	2q31.1 microdeletion syndrome
  765755006	Axial mesodermal dysplasia spectrum
  763684005	Craniosynostosis Herrmann Opitz type
  1231175009	Congenital anomaly of fourth branchial cleft
  766821006	Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome
  16872008	Severe hereditary factor VIII deficiency disease
  274902006	Combined hepatocellular carcinoma and cholangiocarcinoma
  129622008	Nemaline myopathy, late onset type
  763890006	Short stature with delayed bone age due to thyroid hormone metabolism deficiency
  724092009	Nephrosis, deafness, urinary tract, digital malformation syndrome
  770593004	Refractory celiac disease
  716661006	Childhood neoplasm of heart
  48113006	Omsk hemorrhagic fever
  719409004	Lethal Larsen-like syndrome
  778009001	Blepharophimosis, intellectual disability syndrome, Verloes type
  773986009	NEVADA syndrome
  1172696009	Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome
  735332000	Primary cutaneous diffuse large cell B-cell lymphoma of lower extremity
  1231149005	AH amyloidosis
  1779005	Mohr syndrome
  1187616008	Deficiency of galactose mutarotase
  231903005	Superior limbic keratoconjunctivitis
  419671004	Catecholaminergic polymorphic ventricular tachycardia
  82837002	Kenny syndrome
  774206008	Fatal post-viral neurodegenerative disorder
  238003000	Carnitine acylcarnitine translocase deficiency
  66760008	Optic neuritis
  725139005	Spastic paraplegia, optic atrophy, neuropathy syndrome
  785724007	Pyoderma gangrenosum, acne, suppurative hidradenitis syndrome
  1222669009	Congenital primary lymphedema of Gordon
  702350003	Spondyloepimetaphyseal dysplasia, Strudwick type
  404633004	Cogan-Reese syndrome
  778010006	Skin fragility, wooly hair, palmoplantar keratoderma syndrome
  231934009	Pre-descemet's corneal dystrophy
  205082007	Congenital vertical talus
  763370008	X-linked spastic paraplegia type 34
  763215008	Congenital ankylosis of temporomandibular joint
  70410008	Acrocephalosyndactyly type V
  782675008	Distal myopathy with anterior tibial onset
  719687007	Gingival fibromatosis with facial dysmorphism syndrome
  80651009	Aicardi's syndrome
  1268501005	Primary tubulocystic renal cell carcinoma
  778025006	Atypical hypotonia cystinuria syndrome
  54411001	Peutz-Jeghers syndrome
  86635005	Kasabach-Merritt syndrome
  1162799008	Hereditary leiomyomatosis and renal cell carcinoma
  720416007	Acrocapitofemoral dysplasia
  16424000	Glucagonoma syndrome
  773732005	Interstitial granulomatous dermatitis with arthritis
  238862009	Juvenile aponeurotic fibroma
  12579009	Familial Mediterranean fever
  783174004	Congenital muscular dystrophy with intellectual disability
  763068005	Autosomal dominant spastic paraplegia type 31
  1268633007	Primary squamous cell carcinoma of rectum
  61462000	Malaria
  17025000	Vascular Ehlers-Danlos syndrome
  30242009	Scarlet fever
  763770005	Familial cortical myoclonus
  40527005	Idiopathic pulmonary hemosiderosis
  715777007	Primary dystonia type 2
  451030007	Urachal sinus
  771186004	Poikiloderma, alopecia, retrognathism, cleft palate syndrome
  1264458000	Acute undifferentiated leukaemia
  770788000	Tall stature, scoliosis, macrodactyly of great toe syndrome
  766750008	Multiple epiphyseal dysplasia with miniepiphyses
  1231749004	Adult-onset overlap myositis
  239062001	Erythrokeratoderma en cocardes
  770909004	Metaphyseal chondrodysplasia Kaitila type
  726607007	Autosomal recessive spastic paraplegia type 26
  1269045007	Primary mixed germ cell tumor
  783244002	Acute pure sensory neuropathy
  784352007	X-linked scapuloperoneal muscular dystrophy
  77608001	Baller-Gerold syndrome
  723544007	Trichodysplasia spinulosa caused by Polyomavirus
  702375004	Familial isolated pituitary adenoma
  717360009	Pili bifurcati
  1231151009	Osteonecrosis of jaw
  417192005	St. Louis encephalitis virus infection
  720498007	Aphalangy and syndactyly with microcephaly syndrome
  709412006	Congenital disorder of glycosylation type 1c
  1186713004	Growth delay, intellectual disability, hepatopathy syndrome
  89859004	Monostotic fibrous dysplasia
  702313004	Tetra-amelia syndrome
  722429003	Distal limb deficiency with micrognathia syndrome
  446079007	Mal de debarquement syndrome
  1372004	Uterus unicornis
  721008000	Hall Riggs syndrome
  718177001	Autosomal recessive limb girdle muscular dystrophy type 2F
  58557008	Spina bifida aperta
  64716005	Fucosidosis
  715867000	Pseudoaminopterin syndrome
  733200004	Superficial siderosis of central nervous system
  703531009	Brooke-Spiegler syndrome
  237292005	Placental insufficiency
  73284007	Marshall-Smith syndrome
  253185002	Chiari malformation type I
  1197594000	Periodic fever, infantile enterocolitis, autoinflammatory syndrome
  722675000	Laryngo-onycho-cutaneous syndrome
  45142002	Congenital pulmonary lymphangiectasis
  403982005	Retiform hemangioendothelioma
  719042007	Uveal coloboma with cleft lip and palate and intellectual disability syndrome
  718755009	Episodic ataxia type 3
  770786001	Hereditary inclusion body myopathy type 4
  41283003	Cerebro-oculo-facio-skeletal syndrome
  1197591008	Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
  82562007	Osteochondritis dissecans
  1236804009	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
  763833006	Oro-facial digital syndrome type 1
  733521003	Distal 16p11.2 microdeletion syndrome
  838355002	Acute myeloid leukemia with CBFB::MYH11 fusion
  1230018005	Corticobasal syndrome
  253650001	Aorta to right ventricle tunnel
  715532007	Weismann Netter syndrome
  733110004	Van den Bosch syndrome
  1234908005	Congenital azygos continuation of inferior vena cava
  111385000	Tay-Sachs disease
  719449007	Deficiency of dimethylglycine dehydrogenase
  724098008	Monosomy 9q22.3 syndrome
  765488003	Ring chromosome 6 syndrome
  782912001	Spondylometaphyseal dysplasia A4 type
  718122005	Piebaldism
  371015003	Congenital absence of both testes
  773584001	Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
  359631009	Acute myeloid leukemia, minimal differentiation, FAB M0
  402773000	Punctate palmoplantar keratoderma
  235908005	Glycogen phosphorylase kinase deficiency
  764440006	19p13.13 microdeletion syndrome
  719297006	Persistent placoid maculopathy
  715655000	Transthyretin related familial amyloid cardiomyopathy
  8301004	Caudal regression syndrome
  239088003	Dermatopathia pigmentosa reticularis
  726106004	X-linked diffuse leiomyomatosis with Alport syndrome
  783158009	Infundibulo neurohypophysitis
  34194007	HNSHA due to pyrimidine-5'-nucleotidase deficiency
  239070006	Progressive palmoplantar keratoderma of Greither
  725166005	Autosomal recessive omodysplasia
  238829001	Primary anetoderma
  200946001	Staphylococcal scalded skin syndrome
  782755007	Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome
  254114000	Singleton-Merten syndrome
  732930007	Autosomal recessive limb girdle muscular dystrophy type 2T
  297256008	Glycerol kinase deficiency - isolated
  254234005	Marie Unna syndrome
  772828001	Influenza caused by Influenza A virus subtype H5N1
  733028000	Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
  783004003	Thin ribs, tubular bones, dysmorphism syndrome
  52616002	Freeman-Sheldon syndrome
  238853007	Superficial fibromatosis
  720522001	Autosomal recessive limb girdle muscular dystrophy type 2G
  733491005	Carney complex
  1187529000	PEX10 deficiency
  765092004	Spheroid body myopathy
  719471002	Cleidorhizomelic syndrome
  718559000	Acromesomelic dysplasia Maroteaux type
  193225000	Hereditary progressive muscular dystrophy
  421182009	Episodic ataxia type 1
  284811000119102	Aneurysm of extracranial portion of internal carotid artery
  236302005	Acute interstitial pneumonia
  1263450003	Malignant non-dysgerminomatous germ cell tumor of ovary
  1217208003	L-ferritin deficiency
  1187174002	CCDC115 congenital disorder of glycosylation
  716005004	Fetal diethylstilbestrol syndrome
  722114007	Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome
  1279886003	Calpain-3-related limb girdle muscular dystrophy D4
  111388003	Cutis laxa, autosomal dominant
  18756002	Juvenile GM1 gangliosidosis
  88714009	Transient hypogammaglobulinemia of infancy
  1268960003	Primary astroblastoma of central nervous system
  1237417007	CAD-CDG - carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation
  1208614008	Autosomal dominant deafness with onychodystrophy syndrome
  716335003	Worster Drought syndrome
  205480005	Dysplasia epiphysealis hemimelica
  766238001	Maternal uniparental disomy of chromosome 4
  787172004	Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
  717055000	Frontal fibrosing alopecia
  1260182007	Phyllodes tumour of prostate
  702349003	Actin accumulation myopathy
  13280000	Femoral hypoplasia - unusual facies syndrome
  725407006	Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
  718765003	Spondyloepiphyseal dysplasia Cantu type
  1268715005	Primary malignant fibrous histiocytoma
  7573000	Classical phenylketonuria
  110997000	Fahr's syndrome
  1251452003	4q25 proximal deletion syndrome
  62803002	Frontometaphyseal dysplasia
  371199008	Congenital absence of hand
  763834000	Oro-facial digital syndrome type 12
  230557001	Hereditary dysautonomia with motor neuropathy
  716378008	Combined immunodeficiency due to ZAP70 deficiency
  733522005	Megalocornea with intellectual disability syndrome
  1229940001	Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to IL-7Ralpha deficiency
  721838005	Familial hypertryptophanemia
  722105002	Oro-facial digital syndrome type 5
  718909001	X-linked intellectual disability Stevenson type
  404133000	Subcutaneous panniculitis-like T-cell lymphoma
  771148008	X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome
  1186656004	Congenital deficiency of cochlear nerve
  717761005	Choroideremia with deafness and obesity syndrome
  35387008	Congenital aphakia
  277602003	Acute megakaryoblastic leukemia
  41788008	Hereditary factor IX deficiency disease
  84121007	Iminoglycinuria
  721882001	Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
  31681005	Trigeminal neuralgia
  237941007	Gamma-aminobutyric acid transaminase deficiency
  773577009	Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome
  726722009	Hemifacial microsomia with radial defect syndrome
  239139000	Familial cutaneous collagenoma
  773749003	Genitopalatocardiac syndrome
  1268350000	Primary carcinoma of vagina
  766707003	Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutation
  1204418008	Congenital trochlear nerve palsy
  718602007	Hereditary arterial and articular multiple calcification syndrome
  124178006	Deficiency of dihydrofolate reductase
  37702000	Hereditary acrodermatitis enteropathica
  719275009	Primary hypergonadotropic hypogonadism and partial alopecia syndrome
  763534009	Hot water reflex epilepsy
  15892005	Mucopolysaccharidosis, MPS-III-D
  783719006	Obesity due to SIM1 deficiency
  783142006	Pancytopenia due to IKZF1 mutations
  109716001	Osteoradionecrosis of mandible
  721880009	Congenital microgastria with limb reduction defect syndrome
  725157006	Acquired purpura fulminans
  1260180004	Growing teratoma syndrome
  277474005	B-cell chronic lymphocytic leukaemia variant
  763129001	Dermoid cyst of neck
  1268700009	Primary spermatocytic seminoma of testis
  238080004	Hyperalphalipoproteinemia
  397012002	Cutaneous mastocytosis
  205788004	Fetal alcohol syndrome
  238091006	Lecithin cholesterol acyltransferase deficiency
  783060009	Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
  52165006	Niemann-Pick disease, type A
  778063003	Cryptogenic late-onset epileptic spasms
  720511000	Arrhinia with choanal atresia and microphthalmia syndrome
  78675000	Stickler syndrome
  40291001	Mietens syndrome
  236466005	Congenital Fanconi syndrome
  82458004	Congenital stenosis of mitral valve
  715403006	Adult heart tumor
  205824006	Noonan's syndrome
  782739000	Male emopamil-binding protein disorder with neurological defect
  1197057002	Hallermann Streiff like syndrome
  1172631001	Autosomal recessive spastic paraplegia type 76
  1251450006	16p12.1p12.3 triplication syndrome
  254230001	Uncombable hair syndrome
  784393004	Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies
  716238003	Chitty Hall Baraitser syndrome
  770561007	Lower limb malformation hypospadias syndrome
  725096002	Cryptomicrotia brachydactyly syndrome
  41656005	Leri's pleonosteosis syndrome
  238051008	Sialuria
  724147004	8q13 microdeletion syndrome
  783062001	Progressive myoclonic epilepsy type 6
  782934004	Bleeding diathesis due to collagen receptor defect
  1231153007	Primary failure of tooth eruption
  720855003	Cerebrooculonasal syndrome
  1177175008	Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
  717632002	X-linked lissencephaly with abnormal genitalia syndrome
  723496007	Natural killer cell enteropathy
  18504008	Toxic shock syndrome
  1187643003	Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome
  25472008	Sickle cell-hemoglobin D disease
  716708005	FRAXF syndrome
  35850006	Infantile uterus
  782690007	Gemignani syndrome
  60258001	Macular corneal dystrophy
  773497001	Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome
  23063005	Congenital atresia of mitral valve
  717973004	3q29 microduplication
  718556007	3C syndrome
  203927003	Iniencephaly - closed
  111496009	Syringomyelia
  783155007	Malignant epithelial neoplasm of salivary gland
  1259242002	Hereditary von Willebrand disease
  404164003	Necrobiotic xanthogranuloma
  778044004	Primary non-essential cutis verticis gyrata
  1268537000	Primary adenoid cystic carcinoma of cervix uteri
  763860004	Otofaciocervical syndrome
  734017008	Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome
  20927009	Dengue hemorrhagic fever
  267874003	Scleroderma
  720468000	Aniridia and intellectual disability syndrome
  253148005	Miller Dieker syndrome
  35742006	Congenital syphilis
  254786000	Tufted angioma of skin
  719162001	Radioulnar synostosis with microcephaly and scoliosis syndrome
  717338006	Koolen De Vries syndrome
  765137006	Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency
  1251449006	USP18 deficiency
  34911001	Congenital hypoplasia of penis
  66651005	Triploidy syndrome
  719395001	Hadziselimovic syndrome
  63844009	Oculocutaneous albinism
  74703006	HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency
  722762005	GM3 synthase deficiency
  1169355000	Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome
  190681003	Cystinosis
  771509001	Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
  715439000	Familial partial lipodystrophy Dunnigan type
  129644003	Myeloperoxidase deficiency syndrome
  770723007	Optic atrophy, intellectual disability syndrome
  1251402007	Congenital infiltrating lipomatosis of face
  789674008	SPOAN and SPOAN-related disorder
  720598005	Doughnut lesion of calvaria and bone fragility syndrome
  721310007	Aggressive natural killer-cell leukemia
  765756007	Benign infantile seizure with mild gastroenteritis syndrome
  707747007	Pseudoprimary hyperaldosteronism
  718555006	Juvenile amyotrophic lateral sclerosis
  723973002	Sirenomelus
  1268632002	Primary squamous cell carcinoma of gallbladder and extrahepatic biliary tract
  763835004	Oro-facial digital syndrome type 13
  716683005	17q21.31 microduplication syndrome
  234583001	Leukocyte adhesion deficiency - type 2
  445431000	Frasier syndrome
  359732009	Hereditary von Willebrand disease type 2N
  763742008	Intellectual disability, polydactyly, uncombable hair syndrome
  716232002	Autosomal dominant spondylocostal dysostosis
  1208937004	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
  765100000	RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
  774102003	Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome
  733469003	Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome
  239826001	Chronic infantile neurological, cutaneous and articular syndrome
  778043005	Ring chromosome 17 syndrome
  764940002	Inherited acute myeloid leukemia
  1172595004	C11ORF73-related autosomal recessive hypomyelinating leukodystrophy
  702351004	Spondylocarpotarsal synostosis syndrome
  51118003	Congenital atresia of duodenum
  726107008	Distal myopathy Welander type
  213026003	Malignant hyperthermia caused by anesthetic
  61808009	Multiple endocrine neoplasia, type 2
  75659004	Acquired partial lipodystrophy
  1231751000	Recurrent idiopathic neuroretinitis
  414667000	Meningomyelocele
  715316005	Neurogenic arthrogryposis multiplex congenita
  45894003	Medionecrosis of aorta
  398114001	Ehlers-Danlos syndrome
  197442005	Secondary sclerosing cholangitis
  715628009	MORM syndrome
  768939009	Primary tethered cord syndrome
  1237512003	Short stature, developmental delay, congenital heart defect syndrome
  230439004	Epilepsy with continuous spike wave during slow-wave sleep
  783736003	Malignant melanoma of mucous membrane
  59399004	Cutis laxa, x-linked
  1222649004	Auditory neuropathy, optic atrophy syndrome
  127040003	Sickle cell-hemoglobin SS disease
  240081004	Autosomal recessive centronuclear myopathy
  24412005	Congenital secretory diarrhea, chloride type
  782753000	Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
  733520002	20q13.33 microdeletion syndrome
  57436000	Congenital absence of external ear
  83015004	Saethre-Chotzen syndrome
  702373006	Hereditary myopathy with early respiratory failure
  733453005	Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
  82236004	Familial x-linked hypophosphatemic vitamin D refractory rickets
  1228859008	Mixed cystic lymphatic malformation
  297231002	3-Methylglutaconic aciduria type 2
  1268899005	Primary pleuropulmonary blastoma
  53748002	Congenital junctional epidermolysis bullosa-pyloric atresia syndrome
  399889006	Hereditary lymphedema type I
  772126000	Poikiloderma with neutropenia
  720976009	ALG3 congenital disorder of glycosylation
  770900000	Familial omphalocele syndrome with facial dysmorphism
  4199009	18p partial trisomy syndrome
  766874001	Cono-spondylar dysplasia
  782744007	Lipoic acid synthetase deficiency
  79974007	Cat scratch disease
  1493002	Acute endophthalmitis
  719171005	Spondyloepimetaphyseal dysplasia Missouri type
  58275005	Variegate porphyria
  80432009	Porokeratosis of Mibelli
  402425006	Adult onset dermatomyositis
  763886009	Spondyloperipheral dysplasia with short ulna syndrome
  445928005	Eisenmenger's syndrome
  237706000	Autoimmune hypophysitis
  773494008	14q24.1q24.3 microdeletion syndrome
  67144006	Epidermolysis bullosa simplex
  763462004	X-linked lethal multiple pterygium syndrome
  733466005	Camptodactyly taurinuria syndrome
  1268542008	Primary invasive intraductal papillary-mucinous carcinoma of pancreas
  237651005	Insulin resistance - type A
  771178004	Edinburgh malformation syndrome
  253158009	Hydranencephaly with proliferative vasculopathy
  32219008	Craniorachischisis
  230502003	Congenital anosmia
  703389002	CASK related intellectual disability
  725390002	Acute myeloid leukemia with t(8;16)(p11;p13) translocation
  770668007	Paternal uniparental disomy of chromosome 13
  1197363004	Pediatric arterial ischemic stroke
  1268697005	Primary adenosarcoma of corpus uteri
  410801005	Juvenile idiopathic arthritis, enthesitis related arthritis
  764630003	Mosaic trisomy 7 syndrome
  1197745002	PPARG-related familial partial lipodystrophy
  719011002	X-linked intellectual disability Pai type
  1220590003	Familial chilblain lupus erythematosus
  716230005	Shprintzen Goldberg omphalocele syndrome
  719427001	15q11q13 microduplication syndrome
  59292006	Hemiplegic migraine
  50123005	Beals auriculo-osteodysplasia syndrome
  720410001	Acro-oto-ocular syndrome
  238899009	Lipodystrophia centrifugalis abdominalis infantalis
  764857004	Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome
  230191005	Rasmussen syndrome
  65986000	Fetal aminopterin syndrome
  818966007	Avascular necrosis of metatarsal bone
  50658006	Testosterone 17-beta-dehydrogenase deficiency
  276701009	Fetal cytomegalovirus syndrome
  192689006	Rubella encephalitis
  232441008	Congenital vocal cord palsy
  1230290005	Cytokine release syndrome due to chimeric antigen receptor T-cell immunotherapy
  702431004	Feingold syndrome
  239140003	Nevus elasticus
  721973006	Lipodystrophy, intellectual disability, deafness syndrome
  703298001	Diffuse lymphatic malformation
  763375003	Autosomal dominant spastic paraplegia type 19
  50855007	Juvenile hemochromatosis
  721227001	Hunter McAlpine craniosynostosis syndrome
  734029004	Distal 22q11.2 microdeletion syndrome
  1217227009	Scedosporiosis
  724357007	Hereditary cerebral hemorrhage with amyloidosis
  86081009	Herpes gestationis
  72275000	Relapsing polychondritis
  30174008	Childhood hypophosphatasia
  1279891002	Multiple mitochondrial dysfunctions syndrome type 6
  723554006	Aplasia cutis congenita with epibulbar dermoid syndrome
  230387008	Benign occipital epilepsy of childhood - early onset variant
  763377006	Autosomal spastic paraplegia type 30
  765741003	Adenocarcinoma of gallbladder and extrahepatic biliary tract
  764629008	Mosaic trisomy 5 syndrome
  420932006	Episodic ataxia type 2
  783011004	Persistent Eustachian valve
  720812002	Craniosynostosis, anal anomaly, porokeratosis syndrome
  239028001	Odontotrichomelic syndrome
  719824001	Vici syndrome
  83942000	Acute disseminated encephalomyelitis
  766032007	Hartsfield syndrome
  1269271003	Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome
  768843007	DNMT3A-related overgrowth syndrome
  763135001	Charcot-Marie-Tooth disease type 4E
  785726009	Hyperekplexia epilepsy syndrome
  1268348008	Primary small cell carcinoma of lung
  253336000	Isomerism of right atrial appendage
  254047006	Spondylodysplasia, Torrance type
  87730004	Capillary leak syndrome
  30188007	Alpha-1-antitrypsin deficiency
  770791000	Autosomal dominant neovascular inflammatory vitreoretinopathy
  307605009	Osteoblastoma of bone
  763218005	Congenital trigeminal anesthesia
  718680001	Oro-facial digital syndrome type 9
  771185000	Imperforate oropharynx, costovertebral anomalies syndrome
  697962004	Hemifacial hyperplasia
  782781006	High bone mass osteogenesis imperfecta
  416925005	Eastern equine encephalitis virus infection
  1197148005	Sanjad Sakati syndrome
  1204421005	Lymphedema, posterior choanal atresia syndrome
  719514002	Autosomal dominant Charcot-Marie-Tooth disease type 2M
  448476001	Subpulmonary stenosis
  785723001	Persistent idiopathic facial pain
  764992006	Muscle filaminopathy
  715950008	ALK-positive large B-cell lymphoma
  403774004	Hereditary sclerosing poikiloderma of Weary
  770592009	Proton pump inhibitor responsive eosinophilic esophagitis
  400031009	Juvenile xanthogranuloma
  773623000	Spigelian hernia with cryptorchidism syndrome
  60952007	Urocanate hydratase deficiency
  109492001	Dentin dysplasia
  154818001	Congenital afibrinogenemia
  33257003	Congenital duplication of digestive organs
  29504002	Polymorphous corneal dystrophy
  237951008	3-Methylglutaconic aciduria type 1
  763771009	Leiomyosarcoma of cervix uteri
  389203001	White sponge nevus
  398148000	Hereditary sensory and autonomic neuropathy type II
  234533006	X-linked agammaglobulinemia with growth hormone deficiency
  1229943004	SIM1-related Prader-Willi-like syndrome
  1229873009	17q24.2 microdeletion syndrome
  1169360001	Chronic relapsing inflammatory optic neuropathy
  715733000	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  191306005	Immunoglobulin A vasculitis
  26146002	Complete transposition of great vessels
  1186654001	Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
  765191009	Kandori fleck retina syndrome
  410798004	Juvenile idiopathic arthritis, oligoarthritis
  1177173001	Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
  720638000	Charcot-Marie-Tooth disease type 4J
  719646006	8p11.2 deletion syndrome
  233703007	Interstitial lung disease
  1260133007	Syndromic sensorineural deafness due to combined oxidative phosphorylation defect
  722205008	Palmoplantar keratoderma Nagashima type
  720813007	Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome
  719012009	X-linked intellectual disability Miles Carpenter type
  19087001	Tinea kerion
  783097004	Stickler syndrome type 3
  764524005	Distal 22q11.2 microduplication syndrome
  1230017000	Non-recovering brachial plexus injury due to birth trauma
  1216942009	Cerebral ventriculomegaly, cystic kidney disease
  733163007	Primary malignant neuroendocrine neoplasm of anal canal
  86923008	Juvenile retinoschisis
  205769006	Situs inversus with levocardia
  1268389006	Primary undifferentiated carcinoma of oesophagus
  871625003	Intermediate atrioventricular septal defect with atrial and ventricular components and separate atrioventricular valves
  732264002	Coenzyme A synthase protein associated neurodegeneration
  1237413006	Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome
  782785002	X-linked osteoporosis with fractures
  702377007	Hypermanganesemia with dystonia, polycythemia, and cirrhosis
  238931006	Eosinophilic cellulitis
  84241008	Lipoid dermatoarthritis
  724094005	Neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatic fibrosis, polycystic kidney syndrome
  716664003	Primary dystonia 21
  1172899000	PMP22-RAI1 contiguous gene duplication syndrome
  770721009	Microcephaly, thin corpus callosum, intellectual disability syndrome
  716740009	Thomas syndrome
  21009004	Echinococcus multilocularis infection
  124525004	Deficiency of AMP deaminase
  768933005	Semicircular canal dehiscence syndrome
  399959003	Premature aging syndrome
  109477002	Enamel-renal syndrome
  42779002	Reducing-body myopathy
  765750001	Angioosteohypotrophic syndrome
  40315008	Annular pancreas
  255106001	Teratoma of testis
  717766000	Alport syndrome autosomal dominant
  718105008	Lichen amyloidosis
  27971006	Terrien's marginal degeneration of cornea
  722209002	Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
  1260450002	Infantile multisystem neurologic, endocrine, pancreatic disease
  733343005	Primary squamous cell carcinoma of oral cavity
  1230005002	Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome
  12313004	Androgen resistance syndrome
  303098002	3-Phosphoglycerate dehydrogenase deficiency
  783089006	Macrocephaly, intellectual disability, autism syndrome
  1269047004	Primary papillary tumour of pineal region
  771145006	Herpetiform pemphigus
  719466009	Cleft palate with short stature and vertebral anomaly syndrome
  1255270006	Lymphoplasmacytic lymphoma without immunoglobulin M production
  766929007	Genetic hyperferritinemia without iron overload
  124327008	Deficiency of mevalonate kinase
  1231182008	Isolated osteopoikilosis
  773306002	Congenital lethal myopathy Compton North type
  281587000	Pentalogy of Cantrell
  718189004	Recombinant chromosome 8 syndrome
  716584007	Chapare hemorrhagic fever
  1230344000	Microphthalmia, microtia, fetal akinesia syndrome
  19604005	Triglyceride storage disease with ichthyosis
  77039003	Acquired progressive kinking of hair
  237900002	Calciphylaxis
  53132006	Zollinger-Ellison syndrome
  118611004	Sezary's disease
  1187130004	Agenesis of scrotum
  234620006	Hereditary C1 esterase inhibitor deficiency - dysfunctional factor
  715534008	ICCA syndrome
  720830009	Congenital neuronal ceroid lipofuscinosis
  441575009	Ischemic priapism
  719949001	Trigonocephaly with broad thumb syndrome
  40632002	Charcot-Marie-Tooth disease, type IA
  240156000	Juvenile idiopathic generalized osteoporosis
  783735004	Maternal uniparental disomy of chromosome X
  1197476009	Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia
  417089009	Limbal stem cell deficiency
  715672007	Multiple epiphyseal dysplasia type 4
  1196846002	Primary cystadenocarcinoma of intrahepatic bile duct
  42432003	Oto-palato-digital syndrome, type II
  253109005	Parietal encephalocele
  95794005	Tolosa-Hunt syndrome
  238687000	Familial cold urticaria
  1197361002	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  764512003	Distal trisomy 22q syndrome
  127012008	Lipoatrophic diabetes
  703385008	Anomalous origin of pulmonary artery from ascending aorta
  1222655009	Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
  725050005	Autosomal dominant osteopetrosis type 2
  404689008	Alternating hemiplegia
  1222680009	Combined oxidative phosphorylation defect type 24
  703528008	Cutis gyrata syndrome of Beare and Stevenson
  77506005	Infection by Trypanosoma cruzi
  732262003	Marfanoid syndrome De Silva type
  719976001	Glaucoma and sleep apnea syndrome
  715907003	Multiple endocrine neoplasia type 4
  111321007	Right aortic arch
  237928008	Disorder of ornithine metabolism
  10567003	Four X syndrome
  237701005	Pituitary apoplexy
  60812006	Giant cell myocarditis
  68116008	Dentatorubropallidoluysian degeneration
  254125009	Axial osteosclerosis
  1187463001	Microcystic stromal tumor of ovary
  818950005	Blau syndrome
  707492001	Primary squamous cell carcinoma of hypopharynx
  109995007	Myelodysplastic syndrome (clinical)
  715568002	Gnathodiaphyseal dysplasia
  19044004	Spirillary fever
  715669000	Intestinal epithelial dysplasia
  8634009	Distichiasis-lymphedema syndrome
  713572001	Malignant neoplastic disease co-occurrent with human immunodeficiency virus infection
  83728000	Polyglandular autoimmune syndrome, type 2
  1234823004	Idiopathic peliosis hepatis
  40951006	Primary hyperoxaluria, type II
  719158007	Syndactyly type 4
  763869003	Radiation myelitis
  65520001	Primary hyperoxaluria, type I
  765138001	Maternal hyperthermia induced birth defect
  234582006	Leukocyte adhesion deficiency - type 1
  711481001	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
  430476004	Diffuse panbronchiolitis
  716515000	1q41q42 microdeletion syndrome
  733083006	Congenital disorder of glycosylation type 1r
  733492003	Carney triad
  782917007	Familial adrenal hypoplasia with absent pituitary luteinizing hormone
  205819008	Multiple pterygium syndrome
  230380005	Balo concentric sclerosis
  297237003	Generalized uridine diphosphate galactose-4-epimerase deficiency
  783620009	Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis
  399903008	Infantile digital fibromatosis
  717156002	Biliary atresia with splenic malformation syndrome
  787171006	21q22.11q22.12 microdeletion syndrome
  783146009	NLRP12-associated hereditary periodic fever syndrome
  19972008	Postencephalitic parkinsonism
  1186714005	Combined immunodeficiency due to ITK deficiency
  1268548007	Primary salivary gland type carcinoma of oesophagus
  449817000	Peters plus syndrome
  732259001	Distal monosomy 17q
  770562000	Maternal uniparental disomy of chromosome 1
  449899001	Dropped head syndrome
  385482004	Osteogenesis imperfecta type I
  400102008	Lipoblastoma
  1222662000	Neonatal epileptic encephalopathy due to glutaminase deficiency
  253900005	Congenital posterior urethral valves
  32599008	Hemodialysis-associated amyloidosis
  86166000	Alopecia universalis
  703543005	Infantile ascending hereditary spastic paralysis
  1208745002	Serotonin-producing neuroendocrine neoplasm of pancreas
  700056005	Mosaic variegated aneuploidy syndrome
  236713006	X-linked recessive nephrolithiasis with renal failure
  723674005	Simple cryoglobulinemia
  403803002	Linear and whorled nevoid hypermelanosis
  253733006	Pleuropericardial cyst
  1208488006	SATB2-associated syndrome
  419395007	Schnyder crystalline cornea dystrophy
  764850002	Autosomal dominant Charcot-Marie-Tooth disease type 2A2
  402463003	Familial localized cutaneous amyloidosis
  725416005	Cirrhotic cardiomyopathy
  239912009	Primary Sjögren's syndrome
  1268885006	Primary ependymoblastoma
  715737004	Parkinsonism with dementia of Guadeloupe
  1237412001	Regressive spondylometaphyseal dysplasia
  254017009	Infraorbital facial cleft - Tessier cleft 5
  50926003	Hyperimmunoglobulin E syndrome
  766812005	Trichodysplasia xeroderma syndrome
  238883003	Cytophagic histiocytic panniculitis
  1169358003	MARCH syndrome
  1156454002	Embryonal carcinoma
  417570003	Gestational choriocarcinoma
  286071000119109	Congenital peripheral pulmonary artery stenosis
  770558006	Late-onset distal myopathy Markesbery Griggs type
  1186728004	Pediatric multiple sclerosis
  74928006	Camptomelic dysplasia
  700463002	Alpha-methylacyl-CoA racemase deficiency disorder
  237977000	Disorder of glycerol metabolism
  1217373008	Diaphragmatic hernia, short bowel, asplenia syndrome
  77542002	Grebe syndrome
  1177179002	Oral-facial-digital syndrome with short stature and brachymesophalangia
  1230015008	Hereditary angioedema with C1Inh (C1 esterase inhibitor) deficiency
  408537003	Barber-Say syndrome
  89024000	Riedel's thyroiditis
  81854007	Alexander's disease
  726610000	Autosomal recessive spastic paraplegia type 63
  33258008	Primary eosinophilic endomyocardial restrictive cardiomyopathy
  93255008	Congenital hypoplasia of femur
  55912009	Glycogen storage disease, type V
  1237181009	Symptomatic form of haemochromatosis type 1
  770761005	Phalangeal microgeodic syndrome
  28861008	Crouzon syndrome
  719468005	Cleft palate with stapes fixation and oligodontia syndrome
  702406000	Sex cord stromal tumor of testis
  711154007	Cole disease
  312214005	Floating-Harbor syndrome
  723124007	Primary progressive apraxia of speech
  782942003	Renal caliceal diverticuli and deafness syndrome
  254068007	Opsismodysplasia
  782918002	2-aminoadipic 2-oxoadipic aciduria
  726723004	Ring chromosome 13 syndrome
  1228871002	PCNA-related progressive neurodegenerative photosensitivity syndrome
  1197360001	X-linked dominant erythropoietic protoporphyria
  1187639002	Martinique crinkled retinal pigment epitheliopathy
  715401008	Reynolds syndrome
  717045004	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
  60002000	Hypertrophic gastritis
  782825008	Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
  230293003	Carbon monoxide-induced parkinsonism
  128205005	Hereditary sensory and autonomic neuropathy
  254865006	Fibroma of ovary
  819950002	Generalized glucocorticoid resistance syndrome
  111304003	Kozlowski spondylometaphyseal dysplasia
  233629001	Idiopathic bronchiectasis
  782747000	Autosomal recessive spastic paraplegia type 66
  773730002	Osteopetrosis hypogammaglobulinemia syndrome
  720748007	Cooper Jabs syndrome
  1187640000	Combined oxidative phosphorylation defect type 28
  762282007	Immunoglobulin G4 related pachymeningitis
  192990004	Myoclonic epilepsy in infancy
  725099009	Craniometadiaphyseal dysplasia wormian bone type
  763373005	Autosomal recessive spastic paraplegia type 5A
  59990008	Mucopolysaccharidosis, MPS-III-B
  703310005	Autosomal dominant progressive nephropathy with hypertension
  763866005	Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome
  111029001	Acrokerato-elastoidosis
  82214002	Trench fever
  735676003	Narcolepsy type 1
  66937008	Glycogen storage disease type III
  707436001	Isolated pulmonary capillaritis
  204942005	Renal agenesis
  241955009	Acquired C1 esterase inhibitor deficiency
  62628008	Multiple synostosis syndrome
  763630007	Satoyoshi syndrome
  782738008	Karyomegalic interstitial nephritis
  725146001	Atypical juvenile parkinsonism
  732957009	Brachydactyly and preaxial hallux varus syndrome
  402917003	Rift valley fever
  771180005	Hallux varus, preaxial polysyndactyly syndrome
  782881002	Hereditary sensorimotor neuropathy with hyperelastic skin
  782940006	Dobrow syndrome
  719511005	Autosomal dominant Charcot-Marie-Tooth disease type 2G
  47507006	Rieger syndrome
  76304001	Cronkhite-Canada syndrome
  726615005	Autosomal recessive limb girdle muscular dystrophy type 2Q
  720859009	Ehlers-Danlos syndrome kyphoscoliotic and deafness type
  231536004	Atypical autism
  254051008	Type III short rib polydactyly syndrome
  715723008	Syndactyly type 1
  733628001	Thoraco-abdominal enteric duplication
  237995002	Depletion of mitochondrial DNA
  717943008	Brain malformation, congenital heart disease, postaxial polydactyly syndrome
  84461004	Exencephaly
  22567005	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
  1208621008	Multiple mitochondrial dysfunctions syndrome type 4
  818949005	Congenital absence of body of uterus
  254170001	Ichthyosis hystrix of Curth-Macklin
  254123002	Dysosteosclerosis
  205281006	Distal interphalangeal joint symphalangism
  1279883006	Laminin alpha-2 related limb girdle muscular dystrophy R23
  702365002	Combined malonic and methylmalonic aciduria
  717822006	Goldberg Shprintzen megacolon syndrome
  773307006	Zechi Ceide syndrome
  721208007	Ectodermal dysplasia with blindness syndrome
  18121009	Chronic berylliosis
  11179002	Glycogen storage disease, type IV
  68067009	Crigler-Najjar syndrome, type II
  725908007	Neurofaciodigitorenal syndrome
  721226005	Hughes Stovin syndrome
  11225002	Transient hyperammonemia in infancy
  35691006	Combined deficiency of sialidase AND beta galactosidase
  709416009	Acral peeling skin syndrome
  124275001	Deficiency of hypoxanthine phosphoribosyltransferase
  720495005	Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome
  230410004	Benign neonatal familial convulsions
  773551001	Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome
  719104003	Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome
  764725008	9p13 microdeletion syndrome
  763622006	Thinking epilepsy
  715343000	Familial hypoaldosteronism
  722450007	GEMSS syndrome
  702444009	Autoimmune lymphoproliferative syndrome
  69408002	Gorlin syndrome
  1230295000	B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
  276544005	Apnea of prematurity
  720569006	Brachydactyly type A2
  765204000	Dyssegmental dysplasia Silverman Handmaker type
  190818004	Waldenström macroglobulinemia
  1148906001	Acute myeloid leukemia with t(8;21)(q22;q22) RUNX1-RUNX1T1
  763460007	X-linked Charcot-Marie-Tooth disease type 5
  726614009	Autosomal recessive limb girdle muscular dystrophy type 2P
  718103001	Hereditary geniospasm
  233949008	Pulmonary capillary hemangiomatosis
  1268701008	Primary gliosarcoma of central nervous system
  32612005	Disorder of purine metabolism
  59178007	Menkes kinky-hair syndrome
  778068007	Autosomal recessive cutis laxa type 2B
  35520007	Nager syndrome
  725104005	Cheirospondyloenchondromatosis
  732249002	Bone dysplasia lethal Holmgren type
  124128009	Deficiency of phosphogluconate dehydrogenase
  372138000	Carcinoma of esophagus
  758664007	Isolated follicle stimulating hormone deficiency
  240880004	Wound myiasis
  773610007	Chudley McCullough syndrome
  783202008	Autosomal dominant secondary polycythemia
  717155003	Neonatal intrahepatic cholestasis due to citrin deficiency
  1268526001	Primary carcinosarcoma of ovary
  236533008	Ochoa syndrome
  770754006	2p21 microdeletion syndrome without cystinuria
  732948003	Autosomal dominant spastic paraplegia type 10
  253018005	Fibrolamellar hepatocellular carcinoma
  763349002	Progressive myoclonic epilepsy with dystonia
  722035007	MEDNIK syndrome
  763408003	Rhabdomyosarcoma of cervix uteri
  720501007	Arachnodactyly with abnormal ossification and intellectual disability syndrome
  783137003	Radial deficiency, tibial hypoplasia syndrome
  237961001	L-2(OH) glutaric aciduria
  17024001	Aortopulmonary window
  733118006	Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
  782823001	Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome
  1260128008	WARS2-related combined oxidative phosphorylation defect
  733650000	Adult familial nephronophthisis with spastic quadriparesia syndrome
  786038001	Familial nonmedullary primary thyroid carcinoma
  44697002	Melorheostosis
  715217004	Arthrogryposis with oculomotor limitation and electroretinal anomaly
  717225001	Benign adult familial myoclonic epilepsy
  56453003	Hereditary cerebral amyloid angiopathy, Dutch type
  1157162007	Intravascular large B-cell lymphoma
  5187006	Prune belly syndrome
  1268718007	Primary malignant thymoma
  782916003	Dermotrichic syndrome
  771081007	Distal hereditary motor neuropathy type 7
  402356004	Chronic graft-versus-host disease
  27520001	Pustular psoriasis of palms and soles
  733113002	Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
  1268531004	Primary alveolar soft part sarcoma
  445274004	Deficiency of isobutyryl-CoA dehydrogenase
  9740002	Macroencephaly
  733599009	Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency
  763477007	Primary lymphoma of conjunctiva
  778048001	MT-ATP6-related mitochondrial spastic paraplegia
  238078005	Familial hypercholesterolemia - homozygous
  403838000	Jung syndrome
  56989000	Eaton-Lambert syndrome
  715824008	Spinocerebellar ataxia type 28
  719974003	Hemochromatosis type 3
  447882007	Carcinoma of vulva
  205342008	Macrodactyly of toes - simple
  718218005	Porokeratosis plantaris palmaris et disseminata
  23686004	Ring chromosome 20 syndrome
  22935002	Congenital erythropoietic porphyria
  722459008	Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
  783245001	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
  69116000	Moyamoya disease
  54954004	Aspartylglucosaminuria
  405809000	Ocular motor apraxia Cogan type
  234969005	Dentinogenesis imperfecta - Shield's type II
  709414007	Deficiency of mitochondrial complex III
  408539000	Insulin autoimmune syndrome
  205067002	Congenital dislocation of patella
  770437002	Fundus pulverulentus
  21590003	Congenital zonular cataract
  718214007	Mitochondrial neurogastrointestinal encephalomyopathy syndrome
  31155007	Benign recurrent intrahepatic cholestasis
  773992003	Idiopathic macular telangiectasia type 3
  95243004	Rolland-Debuqois syndrome
  1264001009	De novo thrombotic microangiopathy following transplant of kidney
  92969008	Congenital absence of mitral valve
  93018000	Congenital anomaly of pericardium
  719403003	Leukoencephalopathy co-occurrent with bilateral anterior temporal lobe cysts
  709105005	Jackson-Weiss syndrome
  77798004	Systemic chromomycosis
  827115000	Autosomal dominant progressive external ophthalmoplegia
  1220580006	Isolated neonatal sclerosing cholangitis
  413537009	Angioimmunoblastic T-cell lymphoma
  1172901009	Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
  782878007	Autosomal recessive nail dysplasia
  766888002	Familial multiple lipomatosis
  720345008	Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
  771146007	Holoprosencephaly with caudal dysgenesis syndrome
  359648001	Acute myeloid leukemia with maturation, FAB M2
  766048008	Acute myeloid leukemia and myelodysplastic syndrome related to radiation
  773991005	Idiopathic posterior uveitis
  232002000	Snowflake retinal degeneration
  783194008	Bleeding diathesis due to thromboxane synthesis deficiency
  1156403002	Composite Hodgkin and non-Hodgkin lymphoma
  1187567002	Autosomal recessive intermediate Charcot-Marie-Tooth disease type D
  720515009	Distal arthrogryposis type 6
  763277009	Distal trisomy 8q
  609565001	Permanent neonatal diabetes mellitus
  720412009	Acropectoral syndrome
  1268897007	Primary theca steroid producing cell malignant neoplasm of ovary
  55236002	Infantile hypophosphatasia
  68870007	Congenital dyserythropoietic anemia, type II
  253904001	Megacystis-megaureter syndrome
  75922002	Congenital anomaly of ossicles of ear
  30330001	Purulent myositis
  708127008	Collagenofibrotic glomerulopathy
  782737003	Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
  32942005	Glanzmann's thrombasthenia
  725413002	Febrile infection related epilepsy syndrome
  707608003	Amelogenesis imperfecta co-occurrent with cone rod dystrophy
  254192002	Inverse junctional epidermolysis bullosa
  783614008	Familial steroid-resistant nephrotic syndrome with sensorineural deafness
  725035001	Familial partial lipodystrophy Kobberling type
  38539003	Infection by Onchocerca volvulus
  733071009	Deafness, small bowel diverticulosis, neuropathy syndrome
  702448007	Dystonia 6
  711164003	STING-associated vasculopathy with onset in infancy
  722377004	Carney Stratakis syndrome
  239932005	Primary pauci-immune necrotizing and crescentic glomerulonephritis
  398796005	Familial type 3 hyperlipoproteinemia
  838276009	Amyotrophic lateral sclerosis, parkinsonism, dementia complex
  400138001	Nodular fasciitis
  715988005	Wellesley Carman French syndrome
  442511009	Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
  1251451005	MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
  766876004	Combined oxidative phosphorylation defect type 4
  715561008	Hereditary papillary renal cell carcinoma
  430478003	Macrophage activation syndrome
  24752008	Infantile cortical hyperostosis
  770943008	Dentin dysplasia with sclerotic bone syndrome
  111309008	8q partial trisomy syndrome
  711403001	Cerebral folate transport deficiency
  67202007	X-linked Ehlers-Danlos syndrome
  46826000	Rheumatic chorea
  1230066003	Isolated microspherophakia
  764810000	Branchiootic syndrome
  773423007	Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
  732263008	Melhem Fahl syndrome
  1187618009	Autosomal dominant Charcot-Marie-Tooth disease type 2V
  722389002	Congenital hereditary facial paralysis with variable hearing loss syndrome
  4283007	Mirizzi's syndrome
  715463008	Congenital pontocerebellar hypoplasia type 2
  765435009	OTULIN-related autoinflammatory syndrome
  403434009	Atopic keratoconjunctivitis
  237614004	Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency
  726606003	Autosomal recessive spastic paraplegia type 32
  1237368006	Acute myeloid leukaemia with BCR-ABL1
  717915004	Blepharoptosis, myopia, ectopia lentis syndrome
  1237626001	Congenital axonal neuropathy with encephalopathy
  722375007	Bamforth Lazarus syndrome
  715397000	Mesenchymal hamartoma of liver
  722201004	Pai syndrome
  1216939003	Progeroid features, hepatocellular carcinoma predisposition syndrome
  1230098009	Femur fibula ulna complex
  764095005	Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
  231981005	Birdshot chorioretinitis
  1162916008	Glycogen storage disease due to muscle beta-enolase deficiency
  702416008	Snyder-Robinson syndrome
  783095007	Aplasia of uterine cervix
  721840000	Hyperuricemia, anemia, renal failure syndrome
  721311006	Systemic Epstein-Barr virus positive T-cell lymphoproliferative disease of childhood
  1187305006	Partially involuting congenital hemangioma
  715982006	Severe combined immunodeficiency due to DCLRE1C deficiency
  1187115008	Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome
  1187461004	Glycogen storage disease due to aldolase A deficiency
  726704006	Cataract, congenital heart disease, neural tube defect syndrome
  719597005	19p13.12 microdeletion syndrome
  186788009	Q fever
  5601008	Klippel-Feil sequence
  716998009	Joubert syndrome with ocular defect
  725105006	Bleeding disorder due to calcium and DAG-regulated guanine exchange factor-1 deficiency
  609218006	Paroxysmal nonkinesigenic dyskinesia
  715366004	Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1
  24790002	Proximal renal tubular acidosis
  373420004	Upshaw-Schulman syndrome
  725461009	Microcephalic osteodysplastic primordial dwarfism types I and III
  1263461006	Isolated distichiasis
  716665002	Chronic intestinal failure
  1268518009	Primary small cell neuroendocrine carcinoma of bladder
  70910003	Indolent systemic mastocytosis
  874931001	Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
  720520009	Attenuated Chédiak-Higashi syndrome
  721225009	Homocystinuria without methylmalonic aciduria
  715404000	Amelo-onycho-hypohidrotic syndrome
  1163259003	Non syndromic dextrocardia
  9418005	Necrobiosis lipoidica
  400953008	Congenital tarsal kink
  783722008	Myopathy and diabetes mellitus
  1251453008	Lamb Shaffer syndrome
  80328002	Progressive cone-rod dystrophy
  716022002	Gollop syndrome
  716197003	Autosomal dominant pterygium of conjunctiva
  718753002	Episodic ataxia type 6
  725145002	Atrial septal defect, atrioventricular conduction defect syndrome
  720429007	Acrofacial dysostosis Palagonia type
  26682008	Homozygous beta thalassemia
  719833004	Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome
  1268719004	Primary anaplastic astrocytoma of central nervous system
  48250002	Gaisbock's syndrome
  7305005	Coarctation of aorta
  724207001	Kleefstra syndrome
  1268906006	Primary Klatskin tumour
  237886009	Familial idiopathic hypercalciuria
  782941005	Richieri Costa-da Silva syndrome
  773281008	Thakker Donnai syndrome
  787175002	ANK3-related intellectual disability, sleep disturbance syndrome
  1187120008	Stromme syndrome
  1187619001	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect
  771340007	15q11.2 microdeletion syndrome
  702363009	Cold-induced sweating syndrome
  254066006	Wolcott-Rallison dysplasia
  787092009	Secondary non-traumatic avascular necrosis of bone
  240062007	Ullrich congenital muscular dystrophy
  718210003	Brunner syndrome
  724179008	Laron syndrome with immunodeficiency
  55602000	Nezelof's syndrome
  1172633003	Camptodactyly syndrome Guadalajara type 3
  1234830005	14q32 duplication syndrome
  722478008	Skeletal dysplasia with intellectual disability syndrome
  782722002	Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome
  410502007	Juvenile idiopathic arthritis
  766719006	Paternal uniparental disomy of chromosome 1
  765216006	Audiogenic epilepsy
  253732001	Totally absent pericardium
  65399007	Langerhans cell histiocytosis
  718713000	Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
  35031005	Hanhart's syndrome
  770902008	Distal monosomy 12p
  2772003	Acquired epidermolysis bullosa
  70065001	Fetal hydantoin syndrome
  770896003	MITF-related melanoma and renal cell carcinoma predisposition syndrome
  1228861004	Kaposiform lymphangiomatosis
  1208478005	Familial infantile bilateral striatal necrosis
  192976002	Progressive supranuclear palsy
  1229941002	Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to CD45 deficiency
  254962005	Functionless pituitary adenoma
  53593008	Folliculitis decalvans
  773414009	Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
  1208513005	Spinocerebellar ataxia type 42
  31401003	Bicornuate uterus
  716868003	Multicentric osteolysis nodulosis arthropathy spectrum
  774150004	Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
  766717008	Multiple epiphyseal dysplasia due to collagen 9 anomaly
  702342007	3-M syndrome
  397015000	Systemic mastocytosis with associated clonal hematological non-mast cell lineage disease
  1208602000	Pneumonia caused by Pseudomonas aeruginosa
  1268642000	Primary renal medullary carcinoma
  778021002	Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
  1231283007	Congenital isolated adrenocorticotropic hormone deficiency
  65880007	X-linked agammaglobulinemia
  237984008	Neurogenic muscle weakness, ataxia and retinitis pigmentosa
  717187000	Boichis syndrome
  1222677008	Interstitial lung disease due to surfactant protein C deficiency
  254007004	Paramedian facial cleft - Tessier cleft 1
  66489009	Congenital absence of lung
  389272007	Carpotarsal osteochondromatosis
  1237623009	Congenital insensitivity to pain with severe intellectual disability
  1172704005	High grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements
  240453002	Oroya fever
  718631006	Annular epidermolytic ichthyosis
  253401003	Absent mitral leaflets
  1268965008	Primary anaplastic ependymoma of central nervous system
  784347002	Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
  723309006	Endocrine-cerebro-osteodysplasia syndrome
  19726003	Cutis laxa, acquired type
  716653001	Neuroendocrine carcinoma of thymus
  50749006	Double Y syndrome
  268025003	Juvenile osteochondrosis of capitulum of humerus
  721222007	Hirschsprung disease with type D brachydactyly syndrome
  712989008	Phyllodes tumor of breast
  5262007	Spinal muscular atrophy
  717812000	Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome
  725432008	Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency
  55711009	Arthrochalasia Ehlers-Danlos syndrome
  1187040004	Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
  784370005	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
  230306001	Benign hereditary chorea
  733087007	Polydactyly myopia syndrome
  80773006	Escobar syndrome
  193410003	Sorsby pseudoinflammatory fundus dystrophy
  253590009	Pulmonary atresia with intact ventricular septum
  124302001	Deficiency of galactokinase
  721229003	Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
  34748004	Adams-Oliver syndrome
  400080004	Porokeratosis
  718914002	X-linked intellectual disability Van Esch type
  720958002	Frank-Ter Haar syndrome
  1268699008	Primary pilomatrix carcinoma of skin
  59051007	Cysticercosis
  785302009	Adult-onset autosomal recessive cerebellar ataxia
  763069002	Autosomal dominant spastic paraplegia type 41
  725408001	Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2
  62985007	Hereditary insensitivity to pain with anhidrosis
  1234822009	Idiopathic ductopenia
  723581006	STAR syndrome
  254939008	Ependymoma of brain
  764622004	Mosaic trisomy 17 syndrome
  65327002	Mucopolysaccharidosis, MPS-I-H
  782745008	Lipoyl transferase 1 deficiency
  722378009	Congenital cataract with deafness and hypogonadism syndrome
  205402004	Arthrogryposis multiplex congenita
  771514002	Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome
  773670004	Distal Xq28 microduplication syndrome
  783737007	Hirschsprung disease, ganglioneuroblastoma syndrome
  230558006	Hereditary liability to pressure palsies
  1268698000	Primary solid pseudopapillary carcinoma of pancreas
  724282009	Hypoparathyroidism, deafness, renal disease syndrome
  91861009	Acute myeloid leukemia, disease
  40956001	Guillain-Barré syndrome
  766871009	Diencephalic mesencephalic junction dysplasia
  718180000	Autosomal recessive limb girdle muscular dystrophy type 2I
  720747002	Cooks syndrome
  782692004	Maternal uniparental disomy of chromosome 22
  447792005	Chondrosarcoma of bone
  80321008	Mesangiocapillary glomerulonephritis
  726620005	Arthrogryposis hyperkeratosis syndrome lethal form
  763527007	Distal monosomy 13q syndrome
  73123008	Mucopolysaccharidosis, MPS-I-S
  310701003	Behcet's syndrome
  722475006	X-linked congenital dyserythropoietic anemia with thrombocytopenia
  718717004	Primary immunodeficiency syndrome due to p14 deficiency
  255038009	Growth hormone releasing factor-secreting tumor
  725033008	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
  58588007	Cutis laxa
  1169365006	Aquagenic palmoplantar keratoderma
  722110003	Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome
  726703000	Digestive duplication cyst of tongue
  763755009	Dislocation of hip and facial dysmorphism syndrome
  205329008	Humeroradial synostosis
  1187251009	Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome
  724644005	Myeloid leukemia associated with Down syndrome
  1222675000	Primary desmosis coli
  54280009	Kugelberg-Welander disease
  787094005	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
  719047001	14q11.2 microdeletion syndrome
  770680004	Prader-Willi-like syndrome
  763409006	Rhabdomyosarcoma of corpus uteri
  254018004	Infraorbital facial cleft - Tessier cleft 6
  726032008	Short rib polydactyly syndrome Saldino Noonan type
  76902006	Tetanus
  709075008	Aromatase excess syndrome
  732959007	Beta-propeller protein-associated neurodegeneration
  773331001	Nestor Guillermo progeria syndrome
  719684000	8q12 microduplication syndrome
  717232005	Caroli disease
  266152000	Deep seated dermatophytosis
  254052001	Type IV short rib polydactyly syndrome
  699688008	Generalized epilepsy with febrile seizures plus
  763533003	Distal hereditary motor neuropathy Jerash type
  33313004	Radioulnar synostosis
  1208483002	Primary choriocarcinoma of central nervous system
  1268541001	Primary squamous cell carcinoma of liver and intrahepatic biliary tract
  720852000	Cervical hypertrichosis and peripheral neuropathy syndrome
  75387001	Transient neonatal hypertyrosinemia
  720418008	Acrocraniofacial dysostosis
  783556000	Severe early-onset obesity insulin resistance syndrome due to SH2B1 deficiency
  715748006	Spinocerebellar ataxia type 1
  399040002	Congenital central hypoventilation
  74942003	Echinococcosis
  773985008	Peripheral dysostosis
  1187126002	ITM2B-related amyloidosis
  44145005	Benign Rolandic epilepsy
  717821004	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
  719140001	Prieto Badia Mulas syndrome
  771477003	15q overgrowth syndrome
  770787005	Benign Samaritan congenital myopathy
  722439009	EDICT syndrome
  720458005	Acrorenal syndrome
  62578003	Congenital defect of folate absorption
  768473009	PURA syndrome
  389273002	Cherubism with gingival fibromatosis
  1197217007	Multiple paraganglioma associated with polycythemia
  763668009	Lichtenstein syndrome
  1251447008	NAD(P)HX epimerase deficiency
  118609008	Hodgkin's disease, mixed cellularity (clinical)
  719666002	6q terminal deletion syndrome
  1229871006	Primary squamous cell carcinoma of nasal cavity and paranasal sinus
  239054009	Reticulate pigmented anomaly of flexures
  191010004	Common variable immunodeficiency
  416402001	Gestational trophoblastic disease
  719512003	Autosomal dominant Charcot-Marie-Tooth disease type 2K
  1268638003	Primary adenosarcoma of cervix uteri
  230466004	Alternating hemiplegia of childhood
  1187252002	Autosomal dominant thrombocytopenia with platelet secretion defect
  783014007	Panniculitis induced localized lipodystrophy
  770724001	Autosomal recessive spastic paraplegia type 70
  721072003	Short stature, pituitary and cerebellar defect and small sella turcica syndrome
  111303009	Sjögren-Larsson syndrome
  49748000	SSADH (succinic semialdehyde dehydrogenase) deficiency
  253337009	Isomerism of left atrial appendage
  783010003	Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome
  722433005	Dyschondrosteosis and nephritis syndrome
  1279890001	Multiple mitochondrial dysfunctions syndrome type 5
  764466009	Mosaic trisomy 14 syndrome
  716650003	Peritoneal cystic mesothelioma
  720603002	Camptodactyly syndrome Guadalajara type 2
  724385009	Growth delay due to insulin-like growth factor type 1 deficiency
  124432005	Deficiency of phosphoserine phosphatase
  11389007	Inhalational anthrax
  1269043000	Primary malignant rhabdoid tumour
  34643004	Diaphyseal dysplasia
  1237470001	Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome
  403468003	Squamous cell carcinoma of penis
  770629000	Distal 17p13.1 microdeletion syndrome
  778030005	Autosomal recessive spastic paraplegia type 27
  1186869002	Neuroendocrine carcinoma of pancreas
  720612000	Cardiospondylocarpofacial syndrome
  448254007	Non-Hodgkin's lymphoma of central nervous system
  442917000	Familial long QT syndrome
  254887002	Adenocarcinoma of cervix
  764950001	Cryptorchidism, arachnodactyly, intellectual disability syndrome
  1222705009	Familial multiple discoid fibroma
  770405003	Benign familial mesial temporal lobe epilepsy
  64540004	Lichen planopilaris
  1279831004	Congenital insensitivity to pain, anosmia, neuropathic arthropathy
  89454001	Shwachman syndrome
  722031003	Kapur Toriello syndrome
  1268702001	Primary choroid plexus carcinoma
  722290008	Autoimmune lymphoproliferative syndrome with recurrent viral infection
  1231169000	Congenital anomaly of second branchial cleft
  237982007	Lactate dehydrogenase deficiency
  446263001	Loeys-Dietz syndrome
  715905006	Unilateral polymicrogyria
  778051008	Focal palmoplantar keratoderma with joint keratoses
  1268351001	Primary clear cell carcinoma of kidney
  237911005	Disorder of amino acid and organic acid metabolism
  723411003	Nasopalpebral lipoma coloboma syndrome
  63741006	Fungal infection of lung
  205497004	Osteogenesis imperfecta with normal sclerae, dominant form
  763318007	Connective tissue disorder due to lysyl hydroxylase-3 deficiency
  109419009	Mandibuloacral dysostosis
  37471005	Extrinsic allergic alveolitis
  128200000	Complex regional pain syndrome
  35111009	Trisomy X syndrome
  93451002	Erythroleukemia, FAB M6
  721881008	Microduplication Xp11.22p11.23 syndrome
  764734003	Autosomal recessive spastic paraplegia type 21
  771302009	Autosomal recessive lower motor neuron disease with childhood onset
  773774000	High-grade neuroendocrine carcinoma of corpus uteri
  715736008	Paternal uniparental disomy of chromosome 20
  715828006	Proboscis lateralis
  238949006	Acral persistent papular mucinosis
  253640002	Ascending aorta abnormality
  8214000	Telangiectasia macularis eruptiva perstans
  782724001	Multisystemic smooth muscle dysfunction syndrome
  1237578005	Primary oculocerebral non-Hodgkin lymphoma
  1144934003	Recurrent infection due to specific granule deficiency
  699676006	Infection by Microsporidia
  764999002	Non-functioning paraganglioma
  724070005	Paternal 20q13.2q13.3 microdeletion syndrome
  254167000	Bullous ichthyosiform erythroderma
  764962002	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
  75702008	Brucellosis
  429054002	Disorder related to transplantation
  41514002	Congenital supravalvular mitral stenosis
  238070003	Glutaryl-CoA oxidase deficiency
  1279884000	POMGNT2-related limb girdle muscular dystrophy R24
  240626005	Human ehrlichiosis
  720856002	Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome
  239945009	Hypocomplementemic urticarial vasculitis
  71253000	Tay-Sachs disease, variant AB
  447058001	Solitary necrotic nodule of liver
  1197364005	Idiopathic spontaneous coronary artery dissection
  719582007	17p13.3 microduplication syndrome
  770907002	Kagami Ogata syndrome
  763186006	Grubben, De Cock, Borghgraef syndrome
  204134008	Coloboma of lens
  129639005	Hereditary neutrophilia
  196286005	Dentinogenesis imperfecta
  778027003	Primary CD59 deficiency
  254867003	Gynandroblastoma of ovary
  86188000	Kuru
  1162828001	X-linked lymphoproliferative disease due to SH2D1A deficiency
  770903003	Postorgasmic illness syndrome
  68913001	Alpha thalassemia
  1255269005	Hypothalamic adipsic hypernatraemia syndrome
  1230303001	Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease
  1222678003	Interstitial lung disease due to ABCA3 deficiency
  13144005	Methylcrotonyl-CoA carboxylase deficiency
  1197157004	Severe congenital nemaline myopathy
  726619004	Ptosis, strabismus, ectopic pupil syndrome
  386766007	Marchiafava-Bignami disease
  204152008	Axenfeld anomaly
  95501007	Retinal arteriovenous malformation
  773666007	Hypoinsulinemic hypoglycemia and body hemihypertrophy
  770947009	Autosomal dominant severe congenital neutropenia
  36601008	Craniometaphyseal dysplasia
  765187004	Stiff skin syndrome
  703406006	Trichohepatoenteric syndrome
  718188007	8p inverted duplication deletion syndrome
  14447001	Dandy-Walker syndrome
  253269002	Criss-cross heart
  718182008	Combined pituitary hormone deficiency genetic form
  418470004	Porphyria
  19346006	Marfan's syndrome
  774065001	FLOTCH syndrome
  218728005	Interrupted aortic arch
  28557005	Geleophysic dysplasia
  720981000	Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome
  763352005	Familial dyskinesia and facial myokymia
  783177006	Congenital hypothyroidism due to maternal intake of antithyroid drug
  702439002	Andermann syndrome
  87211000119104	Dysembryoplastic neuroepithelial tumor
  717010007	Autosomal dominant Charcot-Marie-Tooth disease type 2C
  403977003	Angiosarcoma
  766815007	Perioral myoclonia with absences
  783696009	Hyperandrogenism due to cortisone reductase deficiency
  14683004	Relapsing fever caused by Borrelia recurrentis
  763624007	Syndactyly type 6
  232330007	Recessive sensorineural hearing loss
  782915004	Acquired hemophagocytic lymphohistiocytosis associated with malignant disease
  254122007	Osteopetrosis with renal tubular acidosis
  1260241001	Resistance to thyroid hormone due to mutation in thyroid hormone receptor beta
  773280009	Hydrocephalus, blue sclera, nephropathy syndrome
  765761009	Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
  398071000	Epidermolysis bullosa simplex, Ogna type
  1229942009	Severe combined immunodeficiency due to CORO1A deficiency
  718577005	Atkin Flaitz syndrome
  84625002	Acute febrile neutrophilic dermatosis
  237653008	Familial hyperparathyroidism
  702407009	McKusick Kaufman syndrome
  23876003	Congenital dislocation of shoulder
  715656004	Aplasia of lacrimal and salivary gland
  8712002	Congenital subaortic stenosis due to fibromuscular shelf
  3755001	Pityriasis rubra pilaris
  448216007	Carcinoma of thyroid
  871597006	Congenital dysplasia of aortic valve
  1222710008	Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
  771262009	Pseudoleprechaunism syndrome Patterson type
  204808002	Congenital pancreatic cyst
  75238000	Mucopolysaccharidosis, MPS-III-C
  722075004	Oro-facial digital syndrome type 10
  766986002	Acute adrenal insufficiency
  37054000	Congenital atresia of colon
  57725006	Balantidiasis
  783176002	Congenital muscular dystrophy with cerebellar involvement
  413936007	Currarino triad
  719257008	Lathosterolosis
  732953008	Ectodermal dysplasia and sensorineural deafness syndrome
  1172585006	MME-related autosomal dominant Charcot Marie Tooth disease type 2
  721313009	Indeterminate dendritic cell neoplasm
  782674007	Distal monosomy 7p syndrome
  719019000	WT limb blood syndrome
  254976006	Optic nerve glioma
  398197009	Congenital choledochal cyst
  715465001	Bedouin spastic ataxia syndrome
  254782003	Multiple progressive hemangiomata
  725393000	Autosomal dominant primary hypomagnesemia with hypocalciuria
  234146006	Hennekam syndrome
  95462004	Anomaly of sex chromosome
  404072004	Dedifferentiated liposarcoma
  723624008	SLC35A1 congenital disorder of glycosylation
  763404001	Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
  715484003	Ophthalmomandibulomelic dysplasia
  1237225007	Dermatosparaxis Ehlers-Danlos syndrome
  409563004	Intestinal botulism
  763796007	Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)
  725904009	Genochondromatosis type 2
  770751003	Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
  719663005	6q25 microdeletion syndrome
  7259005	Mucopolysaccharidosis, MPS-IV-A
  419097006	Danon disease
  240849009	Mansonelliasis
  716773002	Familial idiopathic dilatation of right atrium
  699756005	Segmental odontomaxillary dysplasia
  724650000	Primary follicular dendritic cell sarcoma
  783003009	Thoracomelic dysplasia
  718689000	Distal trisomy 10q
  48611009	Darier disease
  763669001	Spastic ataxia with congenital miosis
  720517001	Ataxia with deafness and intellectual disability syndrome
  723131006	Megalopapilla
  718850008	Autosomal recessive limb girdle muscular dystrophy type 2E
  401138005	Pena-Shokeir syndrome type I
  719249005	Spinocerebellar ataxia type 17
  1222671009	3-methylglutaconic aciduria type 8
  763620003	Trichodermodysplasia and dental alterations syndrome
  770760006	16q24.1 microdeletion syndrome
  75979009	Johanson-Blizzard syndrome
  124177001	Deficiency of pyrroline-5-carboxylate reductase
  764939004	Fundus albipunctatus
  1204420006	Chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis
  255071008	Squamous cell carcinoma of lip
  1279832006	Acute occlusion of peripheral artery due to thrombosis
  277796003	Granulomatous slack skin disease
  1187039001	Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome
  717013009	Autosomal dominant Charcot-Marie-Tooth disease type 2I
  234388009	Delta-beta-Lepore thalassemia
  720599002	Campomelia Cumming type
  1237366005	Aprosencephaly cerebellar dysgenesis
  782757004	Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
  238775002	Idiopathic livedo reticularis with summer ulceration
  715771008	Colobomatous microphthalmia
  773737004	NPHP3-related Meckel-like syndrome
  7119001	Cutaneous lupus erythematosus
  770663003	Tetrasomy 11q24.1
  715627004	Primary progressive freezing gait
  763376002	Autosomal recessive spastic paraplegia type 28
  270889005	Deletion of long arm of chromosome 18
  733638006	Acral dystrophic epidermolysis bullosa
  766813000	Trichoodontoonychial dysplasia
  205330003	Humeroulnar synostosis
  703504006	Congenital reticular ichthyosiform erythroderma
  89597008	Glycogen storage disease, type VII
  722381004	Crome syndrome
  88860002	Pneumocystosis
  783764008	Autosomal recessive spastic paraplegia type 56
  773556006	Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
  763717004	Sporadic fetal brain disruption sequence
  718763005	Spondyloepiphyseal dysplasia MacDermot type
  10007009	Coffin-Siris syndrome
  19092004	Holt-Oram syndrome
  66758006	Acrodysostosis
  721234004	Hyperinsulinism due to HNF1A deficiency
  717329009	Inflammatory pseudotumor of liver
  771235001	Vasoproliferative tumor of retina
  424114000	Nephrogenic systemic fibrosis
  698846009	Tibial muscular dystrophy
  237699005	Post-traumatic hypopituitarism
  771338002	Parietal foramina with clavicular hypoplasia
  118608000	Hodgkin's disease, nodular sclerosis (clinical)
  88923002	Progressive muscular atrophy
  703534001	Char syndrome
  778012003	Temple syndrome
  763065008	Ataxia telangiectasia variant
  721087008	Deafness and intellectual disability Martin Probst type syndrome
  773492007	Childhood-onset spasticity with hyperglycinemia
  1251448003	Polyclonal hyperviscosity syndrome
  1187617004	Charcot-Marie-Tooth disease type 2S
  1172603005	Infantile-onset generalized dyskinesia with orofacial involvement
  787093004	Developmental delay, facial dysmorphism syndrome due to MED13L deficiency
  254065005	Progressive pseudorheumatoid dysplasia
  715535009	Naxos disease
  1220568003	QRICH1-related intellectual disability, chondrodysplasia syndrome
  763132003	Coloboma of superior eyelid
  1179300002	BENTA disease
  719160009	Syndromic X-linked intellectual disability type 7
  75241009	Choroideremia
  770940006	Congenital panfollicular nevus
  773993008	Idiopathic macular telangiectasia type 1
  720635002	Cerebro-facio-thoracic dysplasia
  719947004	Temtamy syndrome
  725036000	Familial isolated hypoparathyroidism
  238049009	Carbohydrate-deficient glycoprotein syndrome
  723512008	Revesz syndrome
  54470008	3 beta-Hydroxysteroid dehydrogenase deficiency
  53926002	Plastic bronchitis
  73692007	Fixed drug eruption
  1157157006	Acute myeloid leukemia with 11q23 abnormality
  1260449002	Polyendocrine polyneuropathy syndrome
  205573006	Focal dermal hypoplasia
  716696006	Autosomal dominant centronuclear myopathy
  237985009	Pearson's syndrome
  699316006	Myhre syndrome
  719475006	CLOVE syndrome
  66451004	Familial visceral amyloidosis, Ostertag type
  83839005	Acrodermatitis continua of Hallopeau
  717003001	Hereditary cavernous hemangioma of brain
  109989006	Multiple myeloma
  14901003	Ankylosis of tooth
  1172628002	TBCK-related intellectual disability syndrome
  723557004	Thiamine-responsive encephalopathy
  715657008	Familial avascular necrosis of femoral head
  73893000	Congenital toxoplasmosis
  783251006	Hereditary thrombocytopenia with normal platelets
  771308008	Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome
  43489008	Crimean-Congo hemorrhagic fever
  1208481000	Progressive cerebello-cerebral atrophy
  17144009	Fibrochondrogenesis
  715630006	Familial progressive hyperpigmentation
  1177169004	Congenital cerebellar ataxia due to RNU12 mutation
  725168006	Aland Islands eye disease
  460923005	Anomalous origin of right coronary artery from left coronary artery aortic sinus
  722125003	Overhydrated hereditary stomatocytosis
  720461006	Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein
  449731009	Autoimmune polyendocrine syndrome type 3
  55999004	Encephalocele
  373426005	Epithelial basement membrane dystrophy
  70694009	Wolfram syndrome
  784380009	Autosomal dominant spastic ataxia type 1
  66063001	Regional odontodysplasia
  69614003	Adenosylcobalamin synthesis defect
  721158009	Deletion 5q35
  66751000	Niemann-Pick disease, type C
  88264003	Infection by larvae of Trichinella spiralis
  271020004	Congenital absence of breast with absent nipple
  702378002	Hyperparathyroidism-jaw tumor syndrome
  703193000	Congenital malformation of dural sinus
  763345008	Charcot-Marie-Tooth disease type 4B3
  725415009	House allergic alveolitis
  1217212009	Mitochondrial pyruvate carrier deficiency
  230260007	Pure hereditary spastic paraplegia
  718897009	X-linked intellectual disability Seemanova type
  721975004	Epiphyseal dysplasia, microcephalus, nystagmus syndrome
  204036008	Lissencephaly
  723825006	Autosomal recessive spastic paraplegia type 55
  1229882003	11q22.2q22.3 microdeletion syndrome
  233692000	Cryptogenic pulmonary eosinophilia
  723821002	Autosomal recessive spastic paraplegia type 44
  57219006	Craniosynostosis syndrome
  709282004	Deficiency of aminoacylase 1
  722063009	Odonto-tricho-ungual-digito-palmar syndrome
  49013001	17 alpha-Hydroxyprogesterone aldolase deficiency
  1268720005	Primary malignant peripheral nerve sheath tumor with perineurial differentiation
  723623002	Southeast Asian ovalocytosis
  778042000	Foveal hypoplasia with presenile cataract syndrome
  771233008	Inflammatory myofibroblastic tumor
  277597005	Myelodysplastic syndrome with isolated del(5q)
  716651004	Leiomyosarcoma of small intestine
  774151000	Ferro-cerebro-cutaneous syndrome
  1220597000	Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
  783619003	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
  5387003	Pigmented hairy epidermal nevus
  51523009	Congenital laryngocele
  312956001	Central serous chorioretinopathy
  277575008	T-cell acute lymphoblastic leukemia
  715754007	Spinocerebellar ataxia type 10
  702312009	Tarsal-carpal coalition syndrome
  9723006	Hyperphosphatasemia with bone disease
  1197358003	Autosomal recessive dysgenesis of anterior segment of eye
  23132008	AL amyloidosis
  1187247007	WAC-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome
  1217367007	PLAA-associated neurodevelopmental disorder
  17827007	Cross syndrome
  719649004	1q44 microdeletion syndrome
  1172843003	Combined oxidative phosphorylation defect type 29
  1216941002	Ketoacidosis due to monocarboxylate transporter-1 deficiency
  720499004	Aplasia cutis with myopia syndrome
  722293005	Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome
  9273005	Juvenile polyposis syndrome
  80612004	Leishmaniasis
  726019003	Familial malignant melanoma of skin
  1177168007	Autosomal recessive spastic paraplegia type 78
  359711001	Hereditary von Willebrand disease type 2A
  1222676004	Mueller Weiss syndrome
  418186002	Pellagra
  55821006	Hay-Wells syndrome of ectodermal dysplasia
  1186711002	GNB5-related intellectual disability, cardiac arrhythmia syndrome
  1268956001	Primary extramammary Paget disease of skin
  443719001	Leiomyosarcoma
  785809005	Mills syndrome
  254846003	Giant fibroadenoma of breast
  721093000	Dianzani autoimmune lymphoproliferative disease
  725431001	Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency
  763061004	20q11.2 microduplication syndrome
  733097003	Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
  763741001	Intellectual disability, alacrima, achalasia syndrome
  715527006	Deafness and oligodontia syndrome
  766976003	Pulmonary valve agenesis, tetralogy of Fallot, absence of ductus arteriosus syndrome
  773667003	Hypertelorism, preauricular sinus, punctual pits, deafness syndrome
  778050009	Idiopathic eosinophilic myositis
  1179299005	NEK9-related lethal skeletal dysplasia
  190268003	Congenital hypothyroidism
  37109004	Ebola virus disease
  722449007	Gingival fibromatosis with progressive deafness syndrome
  12962009	Histoplasmosis
  715755008	Spinocerebellar ataxia type 4
  111396008	Chédiak-Higashi syndrome
  715431002	Phenobarbital embryopathy
  399933001	Vulval intraepithelial neoplasia (VIN)
  1186724002	HTRA1-related autosomal dominant cerebral small vessel disease
  1268396008	Primary undifferentiated carcinoma of stomach
  40122008	Pneumoconiosis
  389163006	Metaphyseal chondrodysplasia, Sedaghatian type
  1214006	Infection by Strongyloides
  1172839002	Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
  765329008	Carbamoyl-phosphate synthetase 1 deficiency
  725392005	Autosomal dominant striatal neurodegeneration
  32985001	Greig cephalopolysyndactyly syndrome
  205369009	Congenital overgrowth of lower limb
  75049004	Jeune thoracic dystrophy
  722106001	Oro-facial digital syndrome type 8
  723551003	Trichothiodystrophy
  726669007	Central nervous system calcification, deafness, tubular acidosis, anemia syndrome
  773702002	Sterile multifocal osteomyelitis with periostitis and pustulosis
  715798007	Charcot-Marie-Tooth disease type 4D
  718719001	Lissencephaly type 3 familial fetal akinesia sequence syndrome
  1197430005	QRSL1-related combined oxidative phosphorylation defect
  1268711001	Primary hepatoblastoma of liver
  111386004	Homozygous porphyria cutanea tarda
  128098009	Scott syndrome
  1197155007	Amish nemaline myopathy
  193413001	Leber's amaurosis
  764811001	Cavitary myiasis
  770602005	Squamous cell carcinoma of exocrine pancreas
  720493003	Annular atrophic lichen planus
  716592003	Cerebellar liponeurocytoma
  771234002	Isolated bilateral hemispheric cerebellar hypoplasia
  60743005	Purine-nucleoside phosphorylase deficiency
  763828007	Odonto onycho dysplasia with alopecia syndrome
  719296002	Posterior amorphous corneal dystrophy
  717333002	Congenital hypothyroidism due to transplacental passage of maternal thyroid stimulating hormone binding inhibitory antibody
  39912006	Hereditary spastic paraplegia
  763617006	Primary laryngeal lymphangioma
  763351003	Spectrin-associated autosomal recessive cerebellar ataxia
  238861002	Juvenile hyaline fibromatosis
  723306004	Facial onset sensory and motor neuronopathy syndrome
  719990003	Autosomal dominant limb girdle muscular dystrophy type 1G
  718575002	Ablepharon macrostomia syndrome
  783055005	Progressive myoclonic epilepsy type 5
  724138007	Mitochondrial myopathy with sideroblastic anemia syndrome
  402772005	Autosomal recessive ichthyosis
  233855002	Familial atrial myxoma
  725417001	CHST3-related skeletal dysplasia
  267613004	Progressive cone dystrophy (without rod involvement)
  722281001	Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
  74912001	Hemoglobin M disease
  827117008	Autosomal recessive progressive external ophthalmoplegia
  719213009	Short stature Brussels type
  818951009	Congenital respiratory biliary fistula
  12876009	Poisoning by Digitalis glycoside
  399964004	Fibroblastic rheumatism
  719253007	Spinocerebellar ataxia type 30
  719069008	Shprintzen Goldberg craniosynostosis syndrome
  764625002	Mosaic trisomy 22 syndrome
  783702009	X-linked intellectual disability due to GRIA3 mutations
  722051004	Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome
  37821003	Sea-blue histiocyte syndrome
  723999009	RHYNS syndrome
  89114005	Infectious secondary iridocyclitis
  719018008	X-linked intellectual disability Abidi type
  733630004	Deficiency of alpha-ketoglutarate dehydrogenase
  733606001	Summitt syndrome
  52713000	Infantile neuroaxonal dystrophy
  818965006	Avascular necrosis of tarsus
  1172626003	TELO2-related intellectual disability, neurodevelopmental disorder
  715989002	Karandikar Maria Kamble syndrome
  254659009	Multiple self-healing epithelioma of Ferguson-Smith
  720953006	Fibular dimelia diplopodia syndrome
  359725000	Hereditary von Willebrand disease type 2M
  9250002	Celiac artery compression syndrome
  43226001	Sarcotubular myopathy
  707341005	Viral hepatitis D
  773621003	Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome
  723450004	Pigmented paravenous retinochoroidal atrophy
  403825008	Familial multiple trichoepitheliomata
  253103006	Frontal encephalocele
  733065003	Myoclonus, cerebellar ataxia, deafness syndrome
  404051002	Embryonal rhabdomyosarcoma
  773627004	Porencephaly, microcephaly, bilateral congenital cataract syndrome
  763220008	Dermoid cyst of face
  715724002	Syndactyly type 2
  84296002	Congenital atresia of small intestine
  785301002	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
  1222643003	Hereditary malignant neuroendocrine neoplasm of small intestine
  57917004	Seckel syndrome
  719271000	Progressive osseous heteroplasia
  230379007	Subacute necrotizing myelitis
  1172694007	Adenylosuccinate synthetase-like 1-related distal myopathy
  772129007	Spinal muscular atrophy with lower extremity predominance
  766044005	Acute encephalopathy with biphasic seizures and late reduced diffusion
  1172589000	Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome
  733091002	Isolated hereditary congenital facial paralysis
  782782004	Autosomal recessive spondylometaphyseal dysplasia Megarbane type
  715240000	X-linked retinal dysplasia
  774070008	FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
  789120001	Neurenteric cyst
  234138005	Bannayan syndrome
  718200007	Primary pulmonary lymphoma
  720573009	Brachymorphism with onychodysplasia and dysphalangism syndrome
  718691008	Isolated cryptophthalmos
  423464009	Squamous cell carcinoma of oropharynx
  93264003	Congenital hypoplasia of humerus
  230421008	Epilepsy with myoclonic-atonic seizures
  721231007	Hydrocephalus with obesity and hypogonadism syndrome
  1268958000	Primary primitive neuroectodermal tumor of corpus uteri
  733070005	Duplication of eyebrow and syndactyly syndrome
  766928004	Generalized basaloid follicular hamartoma syndrome
  718905007	X-linked intellectual disability Shrimpton type
  1230003009	Heme oxygenase-1 deficiency
  770410004	Distal monosomy 14q syndrome
  1220591004	Pediatric collagenous gastritis
  719662000	6p22 microdeletion syndrome
  773645004	Familial infantile gigantism
  783562005	Syndactyly, nystagmus syndrome due to 2q31.1 microduplication
  722033000	Macrocephaly, short stature, paraplegia syndrome
  80258006	Drug-induced lupus erythematosus
  205718006	Chimera 46, XX; 46, XY
  716682000	Dominant beta-thalassemia
  1187470001	Autosomal recessive spastic paraplegia type 75
  1268710000	Primary adamantinoma of long bone
  1268458008	Primary anaplastic thyroid carcinoma
  780822000	Desmoplastic infantile astrocytoma and ganglioglioma
  359804008	Eosinophilic gastroenteritis
  127057004	Paroxysmal cold hemoglobinuria
  719812008	X-linked intellectual disability with plagiocephaly syndrome
  719301002	Spinocerebellar ataxia type 37
  424440001	Adenocarcinoma of small intestine
  205550003	Lamellar ichthyosis
  719836007	X-linked distal arthrogryposis multiplex congenita
  726617002	Autosomal recessive limb girdle muscular dystrophy type 2N
  763529005	Distal monosomy 7q36 syndrome
  722062004	Oculotrichodysplasia
  2829000	Uhl's disease
  1269046008	Primary chordoma
  719430008	Leber plus disease
  1236843008	PDE4D haploinsufficiency syndrome
  783787000	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  722463001	Macular coloboma, cleft palate, hallux valgus syndrome
  238033007	3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
  74398009	XX males
  76098004	Fibrous dysplasia of jaw
  2065009	Dominant hereditary optic atrophy
  128460000	Systemic sclerosis, diffuse
  720978005	ALG9 congenital disorder of glycosylation
  773735007	Deafness with onychodystrophy syndrome
  1230016009	Familial congenital nasolacrimal duct obstruction
  1237475006	Cerebellar-facial-dental syndrome
  717054001	Maternally inherited mitochondrial dystonia
  1857005	Congenital rubella syndrome
  373604002	Light chain deposition disease
  733072002	Stimmler syndrome
  783718003	Paternal uniparental disomy of chromosome X
  1177062005	Sporadic fatal insomnia
  782911008	Hereditary cryohydrocytosis with reduced stomatin
  79037006	Accessory pancreas
  715562001	Retinitis punctata albescens
  1172898008	Kosaki overgrowth syndrome
  719688002	Multiple epiphyseal dysplasia Al-Gazali type
  400126005	Ulerythema ophryogenes
  1264041000	Autosomal dominant osteopetrosis type 1
  720950009	Familial thrombocytosis
  722457005	Juvenile cataract, microcornea, renal glucosuria syndrome
  1269414003	Primary fibrillary astrocytoma of central nervous system
  254132000	Endosteal hyperostoses with cerebellar hypoplasia
  720863002	Eiken syndrome
  371090009	Cholestasis of parenteral nutrition
  763797003	Agenesis of corpus callosum and abnormal genitalia syndrome
  1268486000	Primary ganglioneuroblastoma
  722431007	Double uterus, hemivagina, renal agenesis syndrome
  718881004	Chromosome Xq27.3q28 duplication syndrome
  1237226008	Isotretinoin syndrome
  783143001	Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
  711483003	Spinal muscular atrophy with respiratory distress type 1
  1237509001	PLACK syndrome
  1217409009	Acquired protein S deficiency
  1197205005	Combined immunodeficiency due to DOCK8 deficiency
  723449004	Pierson syndrome
  88220006	Pachydermoperiostosis syndrome
  254112001	Osteoporosis with pseudoglioma
  1260467009	Large congenital pigmented melanocytic naevus of skin
  234422006	Acute intermittent porphyria
  238872007	Acrogeria
  234633000	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
  239031000	Orofacial-digital syndrome IV
  1259813004	Primary anaplastic oligoastrocytoma of central nervous system
  782946000	Gastrocutaneous syndrome
  206292002	Meconium aspiration syndrome
  1237577000	Symptomatic form of Coffin-Lowry syndrome in female carrier
  1222681008	Autoimmune hemolytic anemia, autoimmune thrombocytopenia, primary immunodeficiency syndrome
  718099006	Enlarged parietal foramina
  240447002	Pontiac fever
  717184007	Punctate palmoplantar keratoderma type 1
  82699004	Dyggve-Melchior-Clausen syndrome
  1264005000	Immunoglobulin G4 related submandibular gland disease
  723332005	Isodicentric chromosome 15 syndrome
  722056009	Oculocerebrofacial syndrome Kaufman type
  720414005	Acrorenal mandibular syndrome
  20756002	Adult hypophosphatasia
  716864001	Hemorrhagic fever with renal syndrome
  718572004	Bethlem myopathy
  1767005	Fisher's syndrome
  719819004	Xeroderma pigmentosum and Cockayne syndrome complex
  716281000	Primary progressive non fluent aphasia
  239073008	Circumscribed palmoplantar keratoderma
  715721005	Brachydactyly type A4
  30664006	Multiple endocrine neoplasia, type 1
  719210007	Spinocerebellar ataxia type 14
  78129009	Thrombotic thrombocytopenic purpura
  784349004	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
  13404009	Twin-to-twin blood transfer
  766720000	Paternal uniparental disomy of chromosome 21
  764688002	Autosomal recessive spastic paraplegia type 35
  30023002	Hydranencephaly
  230450001	Eating epilepsy
  719163006	Accessory anterior naris
  1208486005	Multiple mitochondrial dysfunctions syndrome type 2
  763455008	X-linked Charcot-Marie-Tooth disease type 1
  1255207005	Immunoglobulin G4 related eosinophilic angiocentric fibrosis
  715522000	Schinzel phocomelia syndrome
  771479000	Combined immunodeficiency due to STK4 deficiency
  778022009	Classical-like Ehlers-Danlos syndrome type 1
  720467005	Aniridia and absent patella syndrome
  190815001	Cryoglobulinemic vasculitis
  766814006	Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome
  134335004	Hemangiopericytoma
  702345009	Ring chromosome 14 syndrome
  720427009	Acrofacial dysostosis Kennedy Teebi type
  70528007	Mucolipidosis
  239059004	KID syndrome
  10651001	Temporal lobectomy behavior syndrome
  725047007	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
  1222645005	KRT1-related diffuse nonepidermolytic keratoderma
  232384005	Median nasal dermoid fistula
  1260195002	GRIN2B-related developmental delay, intellectual disability, autism spectrum disorder
  49420001	Pemphigus vulgaris
  1156473003	Pineocytoma
  58750007	Plague
  232383004	Nasal dermoid
  78311009	Histidine transport defect
  764812008	Autosomal recessive myogenic arthrogryposis multiplex congenita
  25858008	Atrophic lichen planus
  22255007	Progressive multifocal leukoencephalopathy
  204357006	Ebstein's anomaly
  726051002	Myotonia congenita
  770591002	Pseudounicornuate uterus
  716096005	Goldblatt Wallis syndrome
  719837003	X-linked dominant chondrodysplasia Chassaing Lacombe type
  870320009	Osteitis condensans of medial clavicle
  768556005	Ataxia pancytopenia syndrome
  1231282002	Benign familial neonatal-infantile seizures
  774209001	Didymosis aplasticosebacea
  788674000	Primary cutaneous CD4 positive small/medium T-cell lymphoproliferative disorder
  118613001	Hairy cell leukemia (clinical)
  1156470000	Atypical papilloma of choroid plexus
  14087004	Hereditary stomatocytosis
  720825005	Cystic leukoencephalopathy without megalencephaly
  1172689007	Prenatal-onset spinal muscular atrophy with congenital bone fractures
  1197149002	Psychogenic movement disorder
  19265001	Tularemia
  773275000	Post-transplant acute limbic encephalitis
  720574003	Brachytelephalangy, facial dysmorphism, Kallmann syndrome
  724540009	Tropical calcific chronic pancreatitis
  71988008	Aase syndrome
  458432002	Arterial tortuosity syndrome
  783090002	IRVAN syndrome
  254099008	Desbuquois syndrome
  717332007	Cerebellar ataxia Cayman type
  720818003	Craniosynostosis Philadelphia type
  773770009	Ankyloblepharon filiforme adnatum with imperforate anus syndrome
  1229883008	19p13.3 microduplication syndrome
  763062006	2q33.1 microdeletion syndrome
  721873007	Joubert syndrome with orofaciodigital defect
  238004006	Succinyl-CoA acetoacetate transferase deficiency
  392481002	Chandler syndrome
  67782005	Acute respiratory distress syndrome
  773668008	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  84193000	Trehalase deficiency
  1230342001	Hepatitis B reinfection following liver transplantation
  276803003	Adenocarcinoma of esophagus
  1197215004	Microform holoprosencephaly
  237659007	Pseudopseudohypoparathyroidism
  765146000	Oculocutaneous albinism type 1
  1172627007	Early-onset epilepsy, intellectual disability, brain anomalies syndrome
  1197152005	Distal hereditary motor neuropathy type 5
  403969002	Glomus tumor
  1237421000	PYCR2-related microcephaly, progressive leucoencephalopathy
  715436007	Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration
  124224004	Deficiency of ferroxidase
  63450009	Rufous albinism
  702433001	Congenital cataracts, facial dysmorphism and neuropathy
  297238008	Erythrocyte uridine diphosphate galactose-4-epimerase deficiency
  718751000	COG4 congenital disorder of glycosylation
  711162004	Autosomal dominant vitreoretinochoroidopathy
  128210009	Thoracic outlet syndrome
  254097005	Stuve-Wiedemann dysplasia
  472706000	Closure of fetal arterial duct
  253781004	Megacystis, microcolon, hypoperistalsis syndrome
  60192008	Lethal multiple pterygium syndrome
  897570002	Distal arthrogryposis type 3
  22886006	Glutaric aciduria, type 2
  783254003	Hereditary persistence of fetal hemoglobin with sickle cell disease syndrome
  1228890005	16p13.2 microdeletion syndrome
  777998000	Temtamy preaxial brachydactyly syndrome
  718845002	X-linked intellectual disability with ataxia and apraxia syndrome
  764456001	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
  38847009	XXXXY syndrome
  27836007	Pertussis
  58795000	Distal muscular dystrophy
  67224007	Reactive arthritis triad
  1220598005	Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy
  93466004	Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
  238068007	Bifunctional peroxisomal enzyme deficiency
  1268534007	Primary Ewing sarcoma of soft tissue
  237913008	Disorder of tetrahydrobiopterin metabolism
  765143008	Sporadic pheochromocytoma and secreting paraganglioma
  116020001	Disorder of branched-chain amino acid metabolism
  774212003	Microcornea, myopic chorioretinal atrophy, telecanthus syndrome
  240524001	Brazilian hemorrhagic fever
  719600006	1p21.3 microdeletion syndrome
  723439002	Native American myopathy
  699254009	15q13.3 microdeletion
  127217009	Histiocytic necrotizing lymphadenitis
  719172003	Spondyloepimetaphyseal dysplasia PAPSS2 type
  74788000	Tongue absent
  59761008	Glutamate formiminotransferase deficiency
  24559001	Mutilating keratoderma
  1186729007	Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome
  771269000	Autosomal dominant multiple pterygium syndrome
  715504003	Spastic paraparesis and deafness
  715864007	Idiopathic copper associated cirrhosis of liver
  725434009	Autosomal recessive facio-digito-genital syndrome
  373643003	Cleft lip and cleft of alveolar process of maxilla
  724140002	Microspherophakia with metaphyseal dysplasia syndrome
  60970005	Parasitic myositis
  398316009	Patent urachus
  782828005	Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
  721970009	Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome
  773302000	Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome
  782783009	Oculoauriculofrontonasal syndrome
  715345007	Young onset Parkinson disease
  428217009	Disseminated cytomegalovirus infection
  1179283004	Metopic ridging, ptosis, facial dysmorphism syndrome
  715239002	Sudden sensorineural hearing loss
  26374003	Cheilitis glandularis
  725588002	Bathing suit ichthyosis
  1186720006	CEBPE-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome
  765748009	Adult pure red cell aplasia
  1269233006	Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
  240046001	Muscular dystrophy with predominantly proximal limb girdle distribution
  2992000	Pigmentary pallidal degeneration
  733417008	Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome
  403775003	Hereditary neurocutaneous angiomata
  763721006	Hypermethioninemia encephalopathy due to deficiency of adenosine kinase
  719164000	Symmetrical thalamic calcification
  719429003	Lelis syndrome
  773274001	X-linked intellectual disability, craniofacioskeletal syndrome
  771440006	Hemihyperplasia with multiple lipomatosis syndrome
  430904007	Basilar skull invagination
  1268460005	Primary parathyroid carcinoma
  237934001	Transcobalamin II deficiency
  773278003	Familial osteodysplasia Anderson type
  771301002	Axial spondylometaphyseal dysplasia
  783140003	Pelvic dysplasia, arthrogryposis of lower limbs syndrome
  127041004	Sickle cell-beta-thalassemia
  238875009	Wrinkly skin syndrome
  773554009	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
  715673002	Multiple epiphyseal dysplasia type 1
  230792007	Ependymal cyst
  58558003	Hyperlysinemia
  718183003	Familial thyroid dyshormonogenesis
  722213009	Severe X-linked intellectual disability Gustavson type
  716195006	Verloes Bourguignon syndrome
  72991005	Polyploidy syndrome
  42986003	Charcot-Marie-Tooth disease, type IB
  186774005	Boutonneuse fever
  716318002	Lynch syndrome
  52403007	Thromboangiitis obliterans
  723829000	Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome
  702346005	Potocki-Shaffer syndrome
  237687003	Autosomal dominant isolated somatotropin deficiency
  230350000	Opsoclonus-myoclonus syndrome
  722386009	Celiac disease with epilepsy and cerebral calcification syndrome
  784351000	Antecubital pterygium syndrome
  1157156002	Cavernous lymphangioma
  441134009	Congenital dysmegakaryopoietic thrombocytopenia, Paris Trousseau type
  718135001	Isolated right ventricular hypoplasia
  773628009	Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
  1172892009	Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RORgamma receptor mutation
  109493006	Dentin dysplasia, type I
  770564004	Microcephalic primordial dwarfism Alazami type
  770722002	Proximal myopathy with extrapyramidal signs
  230407006	Hemiplegia-hemiconvulsion-epilepsy syndrome
  778008009	FGFR2-related bent bone dysplasia
  22199006	Nail-patella syndrome
  723824005	Autosomal recessive spastic paraplegia type 54
  726608002	Autosomal recessive spastic paraplegia type 23
  764859001	Laing early-onset distal myopathy
  238735005	Loose anagen hair syndrome
  702344008	Pitt-Hopkins syndrome
  238035000	Delta-4-3-oxosteroid-5-beta-reductase deficiency
  765751002	Autoimmune encephalopathy with parasomnia and obstructive sleep apnea
  770898002	Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency
  15346004	Familial hypoalphalipoproteinemia
  715803003	Charcot-Marie-Tooth disease type 4B1
  766764008	X-linked distal spinal muscular atrophy type 3
  715647007	Bothnia retinal dystrophy
  46804001	Severe X-linked myotubular myopathy
  254196004	Junctional epidermolysis bullosa mitis
  773404000	Roifman syndrome
  774080007	Neonatal scleroderma
  1268707007	Primary malignant dysgerminoma of ovary
  717157006	Trisomy 10p
  1186719000	Predisposition to invasive fungal disease due to CARD9 deficiency
  733050004	Dysmorphism, short stature, deafness, disorder of sex development syndrome
  1268957005	Primary pineoblastoma
  766932005	Hypothalamic hamartoma with gelastic seizure
  715981004	Autosomal recessive primary microcephaly
  234638009	Microcephaly, normal intelligence and immunodeficiency
  128563000	Juxtaposed atrial appendage
  30652003	Hypermobile Ehlers-Danlos syndrome
  719516000	Autosomal dominant focal dystonia DYT25 type
  81285006	Pemphigus vegetans
  55510008	Cor triatriatum
  398565003	Infection caused by Clostridium botulinum
  719282008	Primary ciliary dyskinesia and retinitis pigmentosa syndrome
  733116005	Aniridia, renal agenesis, psychomotor retardation syndrome
  702423009	Deafness-dystonia-optic neuronopathy syndrome
  1279839002	Spinocerebellar ataxia type 46
  702382000	Inclusion body myopathy 2
  56653005	18p partial monosomy syndrome
  77527000	9p partial trisomy syndrome
  1172584005	Childhood-onset basal ganglia degeneration syndrome
  778067002	Brachytelephalangic chondrodysplasia punctata
  1230020008	Congenital peripapillary staphyloma
  254787009	Verrucous hemangioma of skin
  724099000	Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome
  59277005	Zygomycosis
  774152007	Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
  1237618009	Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
  717261006	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
  716663009	Severe early childhood onset retinal dystrophy
  47444008	Lucey-Driscoll syndrome
  726734001	Short stature locking fingers syndrome
  204552001	Congenital subglottic stenosis
  1216943004	Mandibulofacial dysostosis with alopecia
  722390006	Congenital intrauterine infection-like syndrome
  719944006	Oliver McFarlane syndrome
  62067003	Hypoplastic left heart syndrome
  770627003	Desmin-related myofibrillar myopathy
  726705007	3q13 microdeletion syndrome
  778049009	Idiopathic uveal effusion syndrome
  1231140009	Lemierre syndrome
  719987009	Autosomal dominant limb girdle muscular dystrophy type 1D
  1179286007	Combined immunodeficiency due to GINS1 deficiency
  1187038009	Non-specific syndromic intellectual disability
  718766002	Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome
  765046002	Autosomal dominant Charcot-Marie-Tooth disease type 2U
  717824007	Grange syndrome
  717767009	Alport syndrome autosomal recessive
  404120006	Localized pagetoid reticulosis
  57514000	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
  1172841001	Combined oxidative phosphorylation defect type 30
  763889002	Spina bifida and hypospadias syndrome
  400951005	Cryptophthalmos
  721073008	Short stature with webbed neck and congenital heart disease syndrome
  773693005	Spondylo-megaepiphyseal-metaphyseal dysplasia
  717944002	Branchiogenic deafness syndrome
  1177177000	Hyperphenylalaninemia due to DNAJC12 deficiency
  721874001	Juberg Hayward syndrome
  716106000	Limb body wall complex
  1208480004	Epibulbar lipodermoid, preauricular appendage, polythelia syndrome
  718752007	Episodic ataxia type 7
  723367005	MACS syndrome
  231938007	Pellucid marginal corneal degeneration
  58610003	Leber's optic atrophy
  414495006	Infestation by Demodex
  48718006	Roberts-SC phocomelia syndrome
  415283002	Myelodysplastic syndrome with excess blasts-1
  1163260008	Non syndromic camptodactyly of fingers
  398623004	Myelodysplastic syndrome with excess blasts
  765140006	8p23.1 duplication syndrome
  254058002	Pseudodiastrophic dysplasia
  239144007	Congenital erector pili hamartoma
  766755003	Tetrasomy 5p syndrome
  715338007	Fatal infantile lactic acidosis with methylmalonic aciduria
  732245008	Pure mitochondrial myopathy
  715807002	Familial Creutzfeldt-Jakob
  763798008	Microcephalus, complex motor and sensory axonal neuropathy syndrome
  724283004	Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum
  403488004	Systemic lupus erythematosus of childhood
  39390005	Niemann-Pick disease, type B
  720601000	Camptodactyly and tall stature with scoliosis and hearing loss syndrome
  733045005	Camptobrachydactyly
  1237340007	Primary malignant neuroendocrine neoplasm of thymus gland
  61598006	Glycogenosis with glucoaminophosphaturia
  1268634001	Primary squamous cell carcinoma of stomach
  49762007	Hereditary factor XI deficiency disease
  95268002	Sinus venosus atrial septal defect
  782877002	Xp22.13p22.2 duplication syndrome
  737217005	Congenital absence of forearm and hand
  733088002	Preaxial polydactyly, colobomata, intellectual disability syndrome
  95208000	Photogenic epilepsy
  1268487009	Primary carcinoma of nasopharynx
  1187304005	Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
  204378009	Congenital coronary aneurysm
  238832003	Elastoderma
  237611007	Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
  771181009	Hypertrichosis cubiti
  716699004	Epidermolysis bullosa simplex due to plakophilin deficiency
  20348002	14q partial distal trisomy syndrome
  200999007	Actinic lichen planus
  733117001	Thumb stiffness, brachydactyly, intellectual disability syndrome
  1260097007	PUM1-associated developmental disability, ataxia, seizure syndrome
  56786000	Pulmonic valve stenosis
  237652003	Insulin resistance - type B
  726621009	Caudal appendage deafness syndrome
  88518009	Wilson's disease
  720820000	Cutaneous photosensitivity and lethal colitis syndrome
  254153009	Familial expansile osteolysis
  719658006	2q24 microdeletion syndrome
  36188001	Shigellosis
  59548005	Congenital dyserythropoietic anemia, type I
  771144005	Hereditary motor and sensory neuropathy with acrodystrophy
  234361004	Congenital deficiency of intrinsic factor
  718181001	Congenital cardiac diverticulum
  734173003	SCARF syndrome
  725138002	PELVIS syndrome
  724226009	Infantile osteopetrosis with neuroaxonal dysplasia syndrome
  719404009	Lethal recessive chondrodysplasia
  197601003	Finnish congenital nephrotic syndrome
  782727008	Autosomal spastic paraplegia type 72
  239082002	Dyschromatosis universalis
  715986009	Rozin Hertz Goodman syndrome
  723819007	Autosomal dominant spastic paraplegia type 36
  715819005	Lissencephaly with cerebellar hypoplasia type B
  764522009	Familial focal epilepsy with variable foci
  85589009	Radial aplasia-thrombocytopenia syndrome
  239076000	Palmoplantar hyperkeratosis sclerodactyly syndrome
  719816006	X-linked sideroblastic anemia with spinocerebellar ataxia
  42386007	Cryptococcosis
  277567002	T-cell prolymphocytic leukemia
  15069006	Russell-Silver syndrome
  79410001	Congenital cataract
  402561003	Malignant melanoma of soft tissues
  775907000	Congenital pontocerebellar hypoplasia type 9
  715991005	Crane Heise syndrome
  1187620007	Autosomal dominant Charcot-Marie-Tooth disease type 2DD
  1231284001	Autosomal dominant generalized dystrophic epidermolysis bullosa
  1264010001	Primary hypereosinophilic syndrome
  716588005	Primary non-gestational choriocarcinoma of ovary
  720010009	Microphthalmia with brain atrophy syndrome
  770785002	T-cell immunodeficiency with epidermodysplasia verruciformis
  239071005	Epidermolytic palmoplantar keratoderma of Vorner
  47032000	Congenital hydrocephalus
  722053001	Obesity due to prohormone convertase I deficiency
  59708000	Multiple epiphyseal dysplasia
  774154008	Periodic paralysis with later-onset distal motor neuropathy
  723555007	Thymic, renal, anal, lung dysplasia syndrome
  719583002	17q11.2 microduplication syndrome
  43929004	Smith-Lemli-Opitz syndrome
  716863007	Citrullinemia type II
  389168002	Brachydactyly syndrome type B
  782167001	Stewart-Morel-Morgagni syndrome
  47070001	Congenital web of larynx
  785303004	Multiple congenital anomalies, hypotonia, seizures syndrome
  312925009	North Carolina macular dystrophy
  715414009	Familial malignant neoplasm of pancreas
  56212008	Leydig cell agenesis
  718771009	Spinocerebellar ataxia type 20
  1217009002	Primary lymphedema
  721090002	Dermatoosteolysis Kirghizian type
  719584008	17q23.1q23.2 microdeletion syndrome
  1228843008	Anti-p200 pemphigoid
  700250006	Idiopathic pulmonary fibrosis
  239118007	Porokeratotic eccrine ostial and dermal duct nevus
  771141002	Benign partial epilepsy with secondarily generalized seizures in infancy
  238947008	Self-healing juvenile cutaneous mucinosis
  723826007	Autosomal recessive spastic paraplegia type 57
  359717002	Hereditary von Willebrand disease type 2B
  764732004	Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
  890235002	Autosomal recessive epidermolytic ichthyosis
  782672006	Extragonadal germinoma
  31742004	Arteriohepatic dysplasia
  232061009	Congenital stationary night blindness
  47761007	Brill-Zinsser disease
  718721006	Congenital analbuminemia
  716337006	Seaver Cassidy syndrome
  715438008	Jacobsen syndrome
  725462002	Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency
  400001003	Primary cutaneous lymphoma
  238870004	Hutchinson-Gilford syndrome
  717334008	Idiopathic congenital hypothyroidism
  1212005	Childhood type dermatomyositis
  1847009	Endophthalmitis
  773394007	Autosomal recessive frontotemporal pachygyria
  212809004	Methyl alcohol causing toxic effect
  766050000	Distal monosomy 15q
  443928008	Necrotizing soft tissue infection
  715474004	Fibular aplasia and complex brachydactyly
  1234831009	MIRAGE syndrome
  715462003	Microcephaly with cervical spine fusion anomaly
  722453009	Hennekam Beemer syndrome
  240096000	Mitochondrial cytopathy
  1260129000	Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome
  1217213004	Idiopathic acroosteolysis of phalanx
  764435003	17q12 microduplication syndrome
  7368005	Double outlet left ventricle
  719599008	19q13.11 microdeletion syndrome
  737562008	Multicystic renal dysplasia
  715531000	Tibial aplasia and ectrodactyly syndrome
  400946004	Congenital fibrosis syndrome
  734028007	49,XYYYY syndrome
  79665007	Wildervanck syndrome
  718609003	Congenital pontocerebellar hypoplasia type 3
  1187642008	Macrocephaly, intellectual disability, left ventricular non compaction syndrome
  238069004	Acyl-CoA oxidase deficiency
  816068000	Periventricular nodular heterotopia
  763658004	Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome
  448054001	Adult onset autosomal dominant leukodystrophy
  725078006	Congenital disorder of glycosylation type 1e
  1187195007	Microcephalic cortical malformations, short stature due to RTTN deficiency
  709490002	Desmosterolosis
  237989003	Succinate-coenzyme Q reductase deficiency
  720568003	Brachydactyly and arterial hypertension syndrome
  782887003	Inherited congenital spastic tetraplegia
  230247001	Distal spinal muscular atrophy
  47017007	Ring chromosome 1 syndrome
  58976002	Pseudohypoparathyroidism
  768663003	CLCN2-related leukoencephalopathy
  111323005	Total anomalous pulmonary venous return
  782695002	Primary dystonia DYT17 type
  699537002	Erdheim-Chester disease
  724175002	Lisch epithelial corneal dystrophy
  65553006	Aspergillosis
  27837003	Pyle metaphyseal dysplasia
  14821001	Situs ambiguus
  718851007	Cataract glaucoma syndrome
  1208512000	Spinocerebellar ataxia type 41
  720514008	Illum syndrome
  763683004	46,XY ovotesticular disorder of sex development
  712986001	Encephalitis caused by tick-borne encephalitis virus
  1177178005	Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome
  58872001	Erythema elevatum diutinum
  721847002	Joubert syndrome with congenital hepatic fibrosis
  1186721005	Infantile inflammatory bowel disease with neurological involvement
  236531005	Renal dysplasia and retinal aplasia
  1197156008	Intermediate nemaline myopathy
  703199001	Laryngotracheal hemangioma
  726031001	CAMOS syndrome
  723334006	FADD-related immunodeficiency
  274901004	Pilomatrixoma
  16652001	Fabry's disease
  41574007	Paramyotonia congenita
  726708009	Familial isolated congenital asplenia
  95446005	Thrombosis of mesenteric vein
  715826005	Spinocerebellar ataxia type 31
  717276003	Folinic acid responsive seizure syndrome
  773649005	Transient infantile hypertriglyceridemia and hepatosteatosis
  763891005	Renal hepatic pancreatic dysplasia
  703369003	Microcephaly-capillary malformation syndrome
  1208617001	Congenital autosomal recessive small-platelet thrombocytopenia
  81004002	Leprosy
  18690003	Farmers' lung
  699669001	Renpenning syndrome
  763530000	Distal monosomy 9p syndrome
  36785009	Aphasia-angular gyrus syndrome
  312005008	Congenital penoscrotal transposition
  443250000	Malignant fibromatous neoplasm
  764104003	Pseudotyphus of California
  389167007	Acromesomelic dysplasia Hunter-Thompson type
  1208935007	Polymicrogyria due to TUBB2B mutation
  717016001	Autosomal dominant Charcot-Marie-Tooth disease type 2A1
  718217000	Cutaneous leukocytoclastic angiitis
  707541006	Acute respiratory distress in newborn with surfactant disorder
  770595006	Ring chromosome 12 syndrome
  18417009	Oligomeganephronic hypoplasia of kidney
  766722008	Paraparetic variant of Guillain-Barré syndrome
  400115004	Focal acral hyperkeratosis
  717266001	Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
  253649001	Aortic tunnel
  726735000	Autosomal recessive amelia
  703536004	Megalencephalic leukoencephalopathy with subcortical cysts
  13753008	Hemifacial spasm
  50869007	Periodontal Ehlers-Danlos syndrome
  90584004	Spinal cord injury
  1208479002	Papular elastorrhexis
  254215005	Erythrokeratoderma
  1187465008	Autosomal dominant spastic paraplegia type 9A
  238024005	B1 variant hexosaminidase A deficiency
  1222660008	Pancreatic agenesis, holoprosencephaly syndrome
  1268462002	Primary osteosarcoma of bone
  723502001	Reticular dystrophy of retinal pigment epithelium
  773587008	X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome
  430079001	Cryopyrin associated periodic syndrome
  277619001	B-cell prolymphocytic leukemia
  1162839003	XK aprosencephaly syndrome
  254019007	Infraorbital facial cleft - Tessier cleft 7
  48983004	X chromosome-linked sideroblastic anemia
  401046009	Nicolaides-Baraitser syndrome
  1230025003	Complete septate uterus
  26445008	Cat eye syndrome
  773332008	Craniosynostosis and dental anomalies syndrome
  698849002	Tetrasomy 18p
  6160004	Neonatal hemochromatosis
  78250005	Ectopia cordis
  1187250005	Seizures, scoliosis, macrocephaly syndrome
  1269273000	Malignancy diagnosed during pregnancy
  230425004	Lafora disease
  733473000	16p13.3 microduplication syndrome
  253907008	Congenital anterior urethral valve
  703306007	Primary hyperaldosteronism due to aldosterone-secreting malignant neoplasm of adrenal gland
  1173998003	Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome
  52212006	HNSHA due to glutathione reductase deficiency
  717185008	Deficiency of leukotriene C4 synthase
  726733007	Chromosome Xp22.3 microdeletion syndrome
  718194004	Hypothyroidism due to mutation in transcription factor of pituitary development
  1208516002	Spinocerebellar ataxia type 43
  254942002	Tumor of choroid plexus
  109494000	Dentin dysplasia, type II
  783175003	Congenital muscular dystrophy without intellectual disability
  702432006	Fryns syndrome
  38196001	Laron-type isolated somatotropin defect
  46724008	Polyglandular activity in multiple endocrine adenomatosis
  763888005	Necrotizing pneumonia caused by Panton-Valentine leukocidin producing Staphylococcus aureus
  763272003	Distal trisomy 2q
  764455002	Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome
  774066000	Familial angiolipomatosis
  725463007	Severe congenital hypochromic anemia with ringed sideroblasts
  720513002	Arthrogryposis with renal dysfunction and cholestasis syndrome
  389261002	Greenberg dysplasia
  770411000	Distal monosomy 19p13.3
  651000146102	Middle East respiratory syndrome
  239050000	Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections
  785299009	Cobblestone lissencephaly without muscular or ocular involvement
  723441001	Non-progressive cerebellar ataxia with intellectual disability
  707403002	Primary fetal adenocarcinoma of lung
  86463003	Solitary multilocular renal cyst
  789116000	Infectious panuveitis
  205481009	Metachondromatosis
  79745005	Reflex epilepsy
  717772000	CODAS syndrome
  38371006	Poland anomaly
  1197212001	Posterior meningocele
  1230269002	Nasolacrimal duct cyst
  1197592001	Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome
  312215006	Infective encephalitis
  717827000	Hereditary sensory and autonomic neuropathy with spastic paraplegia
  230248006	Scapuloperoneal spinal muscular atrophy
  1269224009	Craniosynostosis, microretrognathia, severe intellectual disability syndrome
  447823004	Congenital abnormality of hepatic vein
  715900001	Chordoid glioma
  124473006	Deficiency of hyaluronoglucosaminidase
  763367009	Autosomal recessive spastic paraplegia type 48
  239940004	Lymphomatoid granulomatosis
  765484001	Ring chromosome 19 syndrome
  399183005	Impetigo bullosa
  717260007	Congenital lipoid adrenal hyperplasia due to STAR deficiency
  61772003	Muscle phosphoglycerate mutase deficiency
  230423006	Unverricht-Lundborg syndrome
  722432000	Duane anomaly, myopathy, scoliosis syndrome
  1220596009	Microcephalic primordial dwarfism, insulin resistance syndrome
  717920004	Blindness, scoliosis, arachnodactyly syndrome
  765328000	Classic mycosis fungoides
  783622001	Autosomal dominant spastic paraplegia type 38
  237751000	Congenital adrenal hyperplasia
  770409009	Crossed polysyndactyly
  1269048009	Primary diffuse intrinsic pontine glioma
  230299004	Juvenile onset Huntington's disease
  733621007	46,XX disorder of sex development with skeletal anomalies syndrome
  62557001	Leiomyomatosis peritonealis disseminata
  880067009	Blount disease
  93059006	Congenital dilatation of pulmonary artery
  721082002	Dacryocystitis and osteopoikilosis syndrome
  725589005	Bullous dystrophy macular type
  1197477000	Combined immunodeficiency due to LRBA deficiency
  230648001	Abdominal cutaneous nerve entrapment syndrome
  719454003	Congenital bile acid synthesis defect type 3
  783615009	Erythropoietic uroporphyria associated with myeloid malignancy
  239133004	Reticulate acropigmentation of Kitamura
  778047006	Myoclonic epilepsy in non-progressive encephalopathy
  770406002	Brachydactyly type B2
  204318003	Persistent ostium secundum
  80126007	Plummer-Vinson syndrome
  1010609002	Mesomelic dysplasia of upper limb
  445308004	Split cord malformation
  396334002	Infection by Dracunculus medinensis
  21061004	Babesiosis
  723444009	Noonan syndrome-like disorder with loose anagen hair
  787413007	Bifid nose
  8217007	Arachnoiditis
  1269231008	Lipoyl transferase 2 deficiency
  764994007	Myopathy with hexagonally cross-linked tubular arrays
  773416006	Intellectual disability, facial dysmorphism, hand anomalies syndrome
  763747002	Congenital interventricular septum aneurysm
  191298004	Acquired factor II deficiency
  773994002	Idiopathic linear interstitial keratitis
  404663008	Paraneoplastic retinopathy
  719815005	X-linked myopathy with excessive autophagy
  61778004	Tumoral calcinosis
  720519003	Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome
  253611000	Quadricuspid aortic valve
  238026007	Infantile GM1 gangliosidosis
  404024000	Melanotic schwannoma
  82732003	Familial hypokalemic periodic paralysis
  783550006	Hereditary sensory and autonomic neuropathy type 7
  782736007	Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency
  1268961004	Primary diffuse astrocytoma of brain
  234451005	Acquired von Willebrand disease
  766883006	Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
  51442005	Congenital atresia of aortic valve
  402717008	IgA pemphigus
  1268705004	Primary malignant sex cord tumor of ovary
  1187041000	STAG1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome
  1187621006	DNAJB2-related Charcot-Marie-Tooth disease type 2
  1231180000	Papillary intralymphatic angioendothelioma
  404140004	Primary cutaneous marginal zone B-cell lymphoma
  88154004	Ring chromosome 18 syndrome
  1268641007	Primary mucinous tubular and spindle cell renal carcinoma
  765747004	Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
  253327004	Congenital coronary sinus stenosis
  720600004	Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome
  239064000	Keratolytic winter erythema
  190905008	Cystic fibrosis
  1259106002	Infantile Alexander disease
  734016004	17p11.2 microduplication syndrome
  389236000	Neonatal osteosclerotic dysplasia
  254060000	Otospondylomegaepiphyseal dysplasia
  707742001	Bartter syndrome
  1230068002	Isolated blepharochalasis
  720979002	Alopecia, contracture, dwarfism, intellectual disability syndrome
  1259817003	Primary pleomorphic xanthoastrocytoma of brain
  43217004	Hereditary factor XII deficiency disease
  254676008	Warty dyskeratoma
  1172588008	Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome
  717181004	Hyperprolinemia type 2
  254221009	Neonatal cutis laxa with marfanoid phenotype
  702367005	Genitopatellar syndrome
  111397004	Saccharopinuria
  1208933000	4H leukodystrophy
  723385003	Mendelian susceptibility to mycobacterial disease due to partial IRF8 deficiency
  1228849007	Polyglucosan body myopathy type 2
  766751007	Neuhauser anomaly
  422348008	Andersen Tawil syndrome
  725163002	X-linked spasticity, intellectual disability, epilepsy syndrome
  778023004	Syndromic multisystem autoimmune disease due to ITCH deficiency
  21634003	Borjeson-Forssman-Lehmann syndrome
  410692006	Anterior uveitis
  715863001	Autoimmune necrotizing myopathy
  59252009	Cutis laxa-corneal clouding-oligophrenia syndrome
  707796002	Fusion of mandibular incisor teeth
  721236002	Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
  715801001	Charcot-Marie-Tooth disease type 4F
  717633007	Distal monosomy 1q syndrome
  54627004	Hereditary xanthinuria
  401315004	Smith-Magenis syndrome
  1231176005	Congenital fistula of commissure of lips
  788417006	Alopecia, epilepsy, intellectual disability syndrome Moynahan type
  253679008	Abdominal aortic coarctation
  1268902008	Primary pulmonary blastoma
  723583009	Steroid dehydrogenase deficiency and dental anomaly syndrome
  236443009	Medullary sponge kidney
  36102002	Waterhouse-Friderichsen syndrome
  87694001	Pyruvate carboxylase deficiency
  290006	Melnick-Fraser syndrome
  29120000	Eosinophilic colitis
  715670004	Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early onset osteoarthritis
  770725000	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  733361001	Primary mucinous adenocarcinoma of ovary
  771237009	Visual snow syndrome
  1263460007	Birt Hogg Dubé syndrome
  1172703004	POGLUT1-related limb girdle muscular dystrophy R21
  715565004	Lethal arthrogryposis with anterior horn cell disease
  448631009	Right inferior caval vein connecting to left sided atrium
  715707008	Postaxial polydactyly type B
  124274002	Deficiency of AMP pyrophorylase
  410796000	Juvenile seropositive polyarthritis
  724097003	Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome
  787410005	Hereditary mixed polyposis syndrome
  773672007	Lethal occipital encephalocele, skeletal dysplasia syndrome
  715990006	Cerebellum agenesis with hydrocephaly
  724278007	Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
  237770005	Syndrome of apparent mineralocorticoid excess
  67569000	Bronchopulmonary dysplasia of newborn
  770728003	Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome
  33513003	Familial apolipoprotein C-II deficiency
  771187008	Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
  404029005	Neurofibroma
  406597005	Infection caused by Nipah virus
  33760009	Relapsing febrile nodular nonsuppurative panniculitis
  711153001	Bowen-Conradi syndrome
  399894006	Kimura's disease
  763623001	Severe combined immunodeficiency due to CTPS1 deficiency
  239072003	Congenital palmoplantar and perioral keratoderma of Olmsted
  770905005	Distal 7q11.23 microdeletion syndrome
  716380002	Logopenic progressive aphasia
  763739002	Idiopathic recurrent stupor
  295315008	Acquired methemoglobinemia
  195353004	Granulomatosis with polyangiitis
  238850005	MAGIC syndrome
  232086000	Neovascular glaucoma
  14870002	Achondrogenesis, type IB
  29633007	Glycogen storage disease
  764854006	Autosomal dominant slowed nerve conduction velocity
  716593008	Carcinoma of salivary gland type of breast
  763403007	Spastic paraplegia, facial cutaneous lesion syndrome
  718770005	Spinocerebellar ataxia type 25
  715364001	Familial abdominal aortic aneurysm
  766239009	Maternal uniparental disomy of chromosome 6
  719256004	Pterygium colli with intellectual disability and digital anomaly syndrome
  309742004	Drug-induced autoimmune hemolytic anemia
  764697003	Verloove Vanhorick Brubakk syndrome
  9311003	Hermansky-Pudlak syndrome
  403967000	Spindle cell hemangioma
  721086004	Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
  818952002	Fibronectin glomerulopathy
  717053007	Renal tubulopathy with encephalopathy and liver failure syndrome
  1179296003	Colobomatous macrophthalmia with microcornea syndrome
  715574002	Posterior cortical atrophy syndrome
  773345007	Oligodontia and cancer predisposition syndrome
  716243005	Sellars Beighton syndrome
  230438007	Acquired epileptic aphasia
  307592006	Basophilic leukemia
  720419000	Acrofacial dysostosis Catania type
  277589003	Myelodysplastic/myeloproliferative neoplasm with neutrophilia
  254664008	Eruptive keratoacanthoma
  734021001	Spinocerebellar ataxia type 38
  1156457009	Papillary glioneuronal tumor of brain
  773643006	Multiple congenital anomalies, hypotonia, seizures syndrome type 2
  699300009	Oculofaciocardiodental syndrome
  200941006	Lupus erythematosus tumidus
  717823001	Goldblatt syndrome
  733422008	Prion protein systemic amyloidosis
  234970006	Dentinogenesis imperfecta - Shield's type III
  237980004	D-Glyceric aciduria
  771472009	Developmental and speech delay due to SOX5 deficiency
  254049009	Schneckenbecken dysplasia
  725034002	Familial platelet syndrome with predisposition to acute myelogenous leukemia
  5743005	Iridoschisis
  1187122000	Witteveen Kolk syndrome
  719139003	Pettigrew syndrome
  721092005	Developmental malformation, deafness, dystonia syndrome
  698272007	Short QT syndrome
  721904001	Rombo syndrome
  200837006	Hydroa vacciniforme
  724281002	Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
  17170005	Pili torti
  763320005	Craniofaciofrontodigital syndrome
  26726000	Legionella infection
  64081000	Porphobilinogen synthase deficiency
  715710001	Polydactyly of triphalangeal thumb
  1268716006	Primary medulloblastoma
  718880003	Zellweger-like syndrome without peroxisomal anomaly
  719808002	Chromosome Xp11.3 microdeletion syndrome
  404143002	Primary cutaneous follicular center B-cell lymphoma
  124704002	Deficiency of glutamate-ammonia ligase
  723553000	Transient bullous dermolysis of newborn
  68504005	Ataxia-telangiectasia syndrome
  68478007	Central retinal vein occlusion
  717061002	Lichen planus pigmentosus
  829973009	Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
  239142006	Michelin-tire baby
  387922007	Neoplasm of endocrine gland
  80887004	Inherited methylmalonic acidemia AND homocystinuria
  764996009	Non-distal trisomy 13q
  699305004	1q21.1 microdeletion
  403764002	Odontomicronychial ectodermal dysplasia
  1172889005	Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome
  109992005	Polycythemia vera (clinical)
  719689005	Multiple epiphyseal dysplasia Beighton type
  237988006	Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
  1197154006	Childhood-onset nemaline myopathy
  389216001	Diaphyseal medullary stenosis with bone malignancy
  699802009	Silent sinus syndrome
  734020000	Spinocerebellar ataxia type 40
  718772002	Spinocerebellar ataxia type 23
  253005002	Vasoactive intestinal peptide-secreting tumor
  722054007	Ocular albinism with late-onset sensorineural deafness
  721903007	Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome
  770687001	Vasculitis due to adenosine deaminase 2 deficiency
  1187565005	Autosomal dominant Charcot-Marie-Tooth disease type 2Y
  1268536009	Primary adenoid basal carcinoma of cervix uteri
  404036006	Perineurioma
  771448004	Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
  724349009	Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome
  27031003	African trypanosomiasis
  773697006	Linear focal elastosis
  771511005	Thrombocythemia with distal limb defect
  723364003	Hypotrichosis with juvenile macular degeneration syndrome
  773393001	Autosomal dominant Charcot-Marie-Tooth disease type 2Q
  51053007	Hemoglobin C disease
  715862006	Smith McCort dysplasia
  190502001	Pituitary dependent hypercortisolism
  784345005	Malignant migrating partial seizures of infancy
  722019000	Oculootoradial syndrome
  719946008	Tel Hashomer camptodactyly syndrome
  724208006	Keutel syndrome
  28724005	Cholestasis-edema syndrome, Norwegian type
  399971009	Junctional epidermolysis bullosa
  763136000	Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome
  1217207008	Congenital oculomotor nerve palsy
  722008003	Isolated autosomal dominant hypomagnesemia Glaudemans type
  766053003	Distal trisomy 1p36
  763666008	Splenic marginal zone B-cell lymphoma
  72523005	X-linked ichthyosis with steryl-sulfatase deficiency
  61750000	Infection by Angiostrongylus
  770596007	Rippling muscle disease with myasthenia gravis
  778073001	3q26 microduplication syndrome
  719097002	BSG syndrome
  441541008	Takotsubo cardiomyopathy
  254150007	Francois syndrome
  409617000	Ricin poisoning
  359673001	Venezuelan hemorrhagic fever
  773419004	Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome
  723373006	UMOD-related autosomal dominant tubulointerstitial kidney disease
  75017004	Paraquat toxicity
  764961009	Hereditary primary clear cell renal cell carcinoma
  724173009	Maternally inherited cardiomyopathy and hearing loss syndrome
  1234824005	Acute macular neuroretinopathy
  444910004	Primary mediastinal (thymic) large B-cell lymphoma
  733489002	Distal myopathy with posterior leg and anterior hand involvement
  91952008	Azorean disease
  770430000	Autosomal recessive distal spinal muscular atrophy type 3
  36070007	Wiskott-Aldrich syndrome
  716248001	Zlotogora Ogur syndrome
  38494008	Langer mesomelic dysplasia syndrome
  782754006	Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
  1217226000	Progressive scapulohumeroperoneal distal myopathy
  285311001	Ameloblastoma of jaw
  253310007	Anomalous insertion of right superior vena cava to left atrium
  237610008	Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes
  71779008	X-linked hydrocephalus syndrome
  733455003	Spastic paraplegia, glaucoma, intellectual disability syndrome
  42094007	Sporotrichosis
  771074000	Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome
  770784003	Sinoatrial node dysfunction and deafness
  87153008	Pulmonary alveolar microlithiasis
  203389008	Juvenile osteochondrosis of the secondary patellar center
  403557001	Midline cervical cleft
  766711009	Isolated sternocostoclavicular hyperostosis
  44553005	Dubin-Johnson syndrome
  716199000	Mehes syndrome
  1231181001	Non-syndromic metopic craniosynostosis
  240305000	Neonatal alloimmune thrombocytopenia
  445187004	Antisynthetase syndrome
  726611001	Autosomal recessive spastic paraplegia type 61
  67247008	Bolivian hemorrhagic fever
  265798000	Congenital complete absence of lower limb
  766879006	Combined immunodeficiency due to OX40 deficiency
  715523005	Mirror polydactyly, vertebral segmentation and limb defect syndrome
  127055007	Chronic cold agglutinin disease
  1157159009	Myopericytoma
  773284000	Malignant germ cell neoplasm of corpus uteri
  733447005	Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency
  86204009	Immotile cilia syndrome
  31541009	Sarcoidosis
  81208006	Ectrodactyly
  254829001	Liposarcoma
  238867003	Infantile systemic hyalinosis
  763312008	Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia syndrome
  239056006	Flynn-Aird syndrome
  702816000	MECP2 duplication syndrome
  733069009	Deafness, vitiligo, achalasia syndrome
  25044007	Neuromyelitis optica
  109998009	Myelodysplastic syndrome with ring sideroblasts and single lineage dysplasia
  403401007	Acquired pseudoxanthoma elasticum
  734031008	Congenital achiasma
  763316006	Congenital patent ductus arteriosus aneurysm
  1230021007	Frontorhiny
  723363009	Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome
  65959000	Beta thalassemia
  234557006	Anti-polysaccharide antibody deficiency
  716871006	Severe combined immunodeficiency due to deoxyribonucleic acid dependent protein kinase catalytic subunit deficiency
  95840007	Hypoplasminogenemia
  1172629005	Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
  65976001	Cleidocranial dysostosis
  733627006	Primary cutaneous gamma-delta-positive T-cell lymphoma
  715665006	Hereditary motor and sensory neuropathy Okinawa type
  716189005	Heide syndrome
  80141007	Hemoglobinopathy
  1156419009	Hepatocellular adenoma
  699299001	Neuroferritinopathy
  7720002	Metaphyseal chondrodysplasia, McKusick type
  724064004	Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
  770945001	Tetramelic monodactyly
  64981002	Congenital atresia of larynx
  1229946007	MAGEL2-related Prader-Willi-like syndrome
  31368008	Thiamin-responsive maple syrup urine disease
  1222708006	TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
  124239003	Deficiency of guanidinoacetate methyltransferase
  1172685001	Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
  34250006	Benign mucous membrane pemphigoid
  772992009	Primary differentiated carcinoma of thyroid gland
  25147002	Subcorneal pustular dermatosis
  1230014007	Duane retraction syndrome with congenital deafness
  716723000	Acute inflammatory demyelinating polyradiculoneuropathy
  722435003	Dystonia 16
  716108004	Fryns macrocephaly
  770414008	Alport syndrome
  770759001	Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
  77333008	Perifolliculitis capitis abscedens et suffodiens
  783555001	Hypotrichosis and deafness syndrome
  1186710001	Leukoencephalopathy with calcifications and cysts
  783016009	Panhypophysitis
  1237343009	Otodental syndrome
  703533007	Capillary malformation-arteriovenous malformation syndrome
  765202001	Familial multiple benign meningioma
  719577000	16p13.11 microdeletion syndrome
  719378009	Microcephalus with brachydactyly and kyphoscoliosis syndrome
  78784005	Amyelia
  724002003	Rambaud Gallian syndrome
  28293008	Hereditary factor VIII deficiency disease
  190980000	Selective immunoglobulin M deficiency
  720572004	Brachydactyly with syndactyly Zhao type
  1231141008	Mannosephosphate isomerase congenital disorder of glycosylation
  1268540000	Primary small cell carcinoma of ovary
  766045006	Acute myeloid leukemia and myelodysplastic syndrome related to alkylating agent
  765135003	Primary essential cutis verticis gyrata
  402718003	Pemphigus paraneoplastica
  1255278004	X-linked myotubular myopathy, abnormal genitalia syndrome
  445269007	Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue (MALT-lymphoma)
  95440004	Atrial septal aneurysm
  403824007	Muir-Torré syndrome
  783092005	46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency
  829971006	Non-amyloid monoclonal immunoglobulin deposition disease
  1187566006	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation
  1231183003	Familial isolated retinal arterial tortuosity
  717223008	X-linked epilepsy with learning disability and behavior disorder syndrome
  717914000	Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
  716200002	Schofer Beetz Bohl syndrome
  1231732006	Smoldering systemic mastocytosis
  447739003	Mega cisterna magna
  720749004	Congenital hereditary endothelial dystrophy and perceptive deafness syndrome
  766983005	Susceptibility to respiratory infection associated with CD8alpha chain mutation
  238928005	Chilblain lupus erythematosus
  450919004	Atrial standstill
  703232003	Familial hyperaldosteronism type 1
  1010685005	Oculo-auriculo-vertebral spectrum
  699275001	WNT4 Mullerian aplasia and ovarian dysfunction
  722032005	Karsch Neugebauer syndrome
  719657001	2q23.1 microdeletion syndrome
  240111007	Fungal myositis
  719010001	X-linked intellectual disability Schimke type
  718687003	Distal monosomy 10q syndrome
  1231757001	Idiopathic optic perineuritis
  60650002	Ring chromosome 9 syndrome
  716746003	Congenital alpha-2-antiplasmin deficiency
  715797002	Charcot-Marie-Tooth disease type 4C
  766705006	Immunodeficiency due to ficolin 3 deficiency
  416669000	Invasive hydatidiform mole
  723453002	PHAVER syndrome
  720417003	Acrocephalopolydactyly
  254113006	Bruck syndrome
  74969002	Congenital ectopic lens
  771476007	Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
  715441004	McDonough syndrome
  65323003	Polymyalgia rheumatica
  722493007	Familial caudal dysgenesis
  715140008	Nodular regenerative hyperplasia of liver
  45042004	Acute fulminating viral hepatitis
  1187278006	Spastic paraplegia, severe developmental delay, epilepsy syndrome
  7265005	Glycogen storage disease, type I
  230437002	Severe myoclonic epilepsy in infancy
  72951007	Gastroschisis
  78494001	Amelogenesis imperfecta
  92976003	Congenital absence of tricuspid valve
  1269413009	Primary pilomyxoid astrocytoma
  721584005	Johnson neuroectodermal syndrome
  773555005	Severe neurodegenerative syndrome with lipodystrophy
  716997004	Joubert syndrome
  773488000	Combined immunodeficiency due to MALT1 deficiency
  1172632008	SIX2-related frontonasal dysplasia
  717224002	X-linked reticulate pigmentary disorder with systemic manifestation syndrome
  766820007	Spondyloepimetaphyseal dysplasia with multiple dislocations
  17602002	Amyloidosis
  763772002	Invasive non-typhoidal salmonellosis
  67278007	Congenital stenosis of pulmonary valve
  205063003	Congenital genu recurvatum
  408751001	Complex regional pain syndrome, type II
  410797009	Juvenile seronegative polyarthritis
  703233008	Familial hyperaldosteronism type 2
  235888006	Cholestasis of pregnancy
  1284849005	Primary malignant Sertoli-Leydig cell tumor of ovary
  771177009	Ectrodactyly polydactyly syndrome
  204667006	Congenital diverticulum of esophagus
  197834003	Chronic interstitial cystitis
  732961003	Branchial dysplasia, intellectual disability, inguinal hernia syndrome
  723448007	Polyvalvular heart disease syndrome
  428638009	Encephalitis caused by Herpesvirus
  763719001	Hydroa vacciniforme-like lymphoma
  770408001	Congenital stenosis of cervical spinal canal
  81577001	Congenital anomaly of inferior vena cava
  716278005	Epilepsy with eyelid myoclonia
  1264112006	Late-onset citrullinemia type I
  725027004	Muscle and heart glycogen synthase deficiency
  267550008	Congenital methemoglobinemia
  699328003	Myoclonic epilepsy myopathy sensory ataxia
  53599007	Testicular regression syndrome
  48236007	Asherman syndrome
  68267002	Benign intracranial hypertension
  124322002	Deficiency of glycerol kinase
  390936003	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
  72831007	Vitamin D-dependent rickets, type 2
  715192004	Idiopathic achalasia of esophagus
  783165001	Dysplastic cortical hyperostosis
  415764005	Tyrosinemia type III
  28574005	Congenital anomaly of coronary artery
  234593008	Classical complement pathway abnormality
  763867001	Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome
  1172635005	Split-foot malformation, mesoaxial polydactyly syndrome
  783138008	Pseudo Meigs syndrome
  1251446004	NAD(P)HX dehydratase deficiency
  725030006	Familial scaphocephaly syndrome McGillivray type
  719203001	Spondyloepiphyseal dysplasia Kimberley type
  44274007	Lymphoid interstitial pneumonia
  771179007	Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
  36369001	1p partial monosomy
  1197357008	Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome
  766824003	ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
  57058008	Uterus bicornis unicollis
  24225004	Tonic pupillary reaction
  774082004	Neonatal dermatomyositis
  773664005	Deficiency in anterior pituitary function, variable immunodeficiency syndrome
  190764000	Essential pentosuria
  1173999006	IL21-related infantile inflammatory bowel disease
  773421009	Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
  720606005	Cardiocranial syndrome Pfeiffer type
  764995008	Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome
  33225004	Anorectal anomaly
  70199000	I-cell disease
  829972004	Diffuse alveolar hemorrhage
  783056006	Paratesticular adenocarcinoma
  718688008	Distal monosomy 6p
  782937006	Extensor tendons of finger anomalies
  276804009	Squamous cell carcinoma of esophagus
  721972001	Limb mammary syndrome
  722057000	Oculocutaneous albinism type 5
  1173034002	Combined oxidative phosphorylation defect type 26
  268180007	Right hypoplastic heart syndrome
  268232000	Bilateral renal hypoplasia
  773283006	Malignant germ cell neoplasm of cervix uteri
  268302006	Aberrant thyroid gland
  1255274002	Congenital myopathy with reduced type 2 muscle fibres
  17920008	Portal vein thrombosis
  764958008	Striate palmoplantar keratoderma
  234646005	Graft versus host disease
  720815000	Capra DeMarco syndrome
  725141006	Atelosteogenesis type 1
  238059005	Disorder of peroxisomal function
  238048001	Alpha-N-acetylgalactosaminidase deficiency
  763536006	Hyperplastic polyposis syndrome
  109978004	T-cell lymphoma (clinical)
  15285008	Adenylosuccinate lyase deficiency
  39898005	Sleep disorder
  702343002	Early onset myopathy with fatal cardiomyopathy
  1264003007	Postcardiotomy acute right ventricular failure
  129635004	Ovarian hyperstimulation syndrome
  1674008	Meesman's corneal dystrophy
  51247001	Vibratory urticaria
  719575008	15q14 microdeletion syndrome
  717774004	COG8 congenital disorder of glycosylation
  445406001	Hepatosplenic T-cell lymphoma
  782880001	Hemoglobinopathy Toms River
  239089006	Acromelanosis
  703535000	Mowat-Wilson syndrome
  1229875002	9q21.13 microdeletion syndrome
  389158007	Thanatophoric dysplasia, type 2
  1229999001	Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome
  782750002	T-cell receptor alpha-beta-positive T-cell deficiency
  718393002	Atypical Rett syndrome
  1231142001	Furuncular myiasis
  253731008	Partial agenesis of pericardium
  70099003	Stargardt's disease
  1187212004	Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
  2884008	Weill-Marchesani syndrome
  240063002	Eichsfeld type congenital muscular dystrophy
  254084008	Metaphyseal chondrodysplasia, Spahr type
  770757004	X-linked parkinsonism with spasticity syndrome
  1237338002	Exercise-induced malignant hyperthermia
  238002005	Carnitine palmitoyltransferase II deficiency
  1208615009	Neurogenic scapuloperoneal syndrome Kaeser type
  238104009	Sitosterolemia
  53974002	Kniest dysplasia
  718761007	Syndromic microphthalmia type 5
  717787005	Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement
  720980004	Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome
  238897006	Localized idiopathic lipoatrophy
  732261005	Cyprus facial neuromusculoskeletal syndrome
  722036008	Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
  1268543003	Primary clear cell sarcoma of kidney
  276426004	Ornithine aminotransferase deficiency
  778065005	Combined oxidative phosphorylation defect type 14
  315345002	Acute lung injury
  239891002	Subacute cutaneous lupus erythematosus
  726670008	Weaver Williams syndrome
  22764001	Metatropic dysplasia
  784353002	Pulmonary valve agenesis, intact ventricular septum, persistent ductus arteriosus syndrome
  128207002	Giant axonal neuropathy
  18273004	Unstable hemoglobin disease
  448212009	Anaplastic large cell lymphoma, ALK negative
  205496008	Osteogenesis imperfecta, perinatal lethal
  82319005	Acyl-CoA dehydrogenase deficiency
  719009006	X-linked intellectual disability Wilson type
  783012006	Parkinsonian pyramidal syndrome
  764525006	Cylindrical spirals myopathy
  49692006	Schilder's disease
  1284851009	Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
  715528001	Cochleosaccular degeneration and cataract syndrome
  716698007	Congenital deficiency of alpha-fetoprotein
  1208339007	Neuhauser Eichner Opitz syndrome
  715471007	Reardon Hall Slaney syndrome
  1222709003	Syndromic congenital sodium diarrhea
  764955006	Laubry Pezzi syndrome
  1197589000	Steel syndrome
  109982002	Alpha heavy chain disease (clinical)
  766982000	Hemolytic anemia due to adenylate kinase deficiency
  722763000	Dopamine transporter deficiency syndrome
  733067006	Telecanthus, hypertelorism, strabismus, pes cavus syndrome
  2391001	Achondrogenesis
  1173036000	Combined oxidative phosphorylation defect type 23
  764963007	Focal palmoplantar and gingival keratoderma
  783006001	Low-grade neuroendocrine neoplasm of corpus uteri
  1268352008	Primary pituitary carcinoma
  275416002	Congenital bilateral aplasia of vas deferens
  37272000	Rh deficiency syndrome
  726017001	MUC1-related autosomal dominant tubulointerstitial kidney disease
  1187563003	Autosomal recessive Charcot-Marie-Tooth disease type 2X
  1187043002	Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome
  783258000	ADan amyloidosis
  208061000119101	Adenoma of pancreas
  783612007	Acute annular outer retinopathy
  766051001	Distal trisomy 17q
  783789002	Autosomal recessive brachyolmia
  128212001	Spinal muscular atrophy, type II
  716700003	Epidermolysis bullosa simplex with circinate migratory erythema
  724065003	Autosomal recessive posterior column ataxia and retinitis pigmentosa
  1197479002	DOCK2 deficiency
  718553004	White platelet syndrome
  783061008	Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
  733625003	48,XYYY syndrome
  1167372000	X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
  312921000	Autosomal dominant cystoid macular edema
  783148005	Distal nebulin myopathy
  723497003	Peripheral neuropathy with sensorineural hearing impairment syndrome
  720604008	Cap polyposis
  1237346001	Caroli syndrome
  771143004	Hereditary motor and sensory neuropathy type 5
  722117000	Osteosclerosis, developmental delay, craniosynostosis syndrome
  725142004	Atelosteogenesis type 3
  724229002	Infantile apnea
  725148000	Atypical lichen myxedematosus
  719981005	Charcot-Marie-Tooth disease type 2B2
  402415001	Schnitzler syndrome
  776417008	Acroosteolysis, keloid-like lesions, premature aging syndrome
  417441005	Creeping myiasis
  722119002	Idiopathic membranous glomerulonephritis
  702445005	Autosomal recessive spastic ataxia of Charlevoix-Saguenay
  237684005	Sheehan's syndrome
  765763007	Congenital laryngeal cyst
  1231746006	Isolated agenesis of cerebellar vermis
  1231170004	Congenital anomaly of third branchial cleft
  76670001	Duchenne muscular dystrophy
  698279003	X-linked dystonia parkinsonism
  716649003	Extraovarian primary peritoneal carcinoma
  717255008	Secondary intestinal lymphangiectasia
  719402008	Lethal hemolytic anemia and genital anomaly syndrome
  723582004	Subepithelial mucinous corneal dystrophy
  715560009	Idiopathic neonatal atrial flutter
  770622009	Benign infantile focal epilepsy with midline spikes and waves during sleep
  784391002	Autosomal dominant adult-onset proximal spinal muscular atrophy
  702441001	Arts syndrome
  111318005	Congenital cystic adenomatoid malformation of lung
  782913006	Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
  770792007	Adult-onset distal myopathy due to valosin containing protein mutation
  702829000	Warsaw breakage syndrome
  201015007	Actinic prurigo
  767001002	Congenital absence of lower leg and foot
  720639008	Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome
  783257005	Familial recurrent peripheral facial palsy
  21877004	Osler hemorrhagic telangiectasia syndrome
  766706007	Inflammatory myopathy with abundant macrophages
  718141008	Genetic steroid-resistant nephrotic syndrome
  771469002	Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
  765096001	Punctate palmoplantar keratoderma type 2
  720605009	Cardiac anomaly and heterotaxy syndrome
  715908008	Epithelial recurrent erosion dystrophy
  400014002	Hereditary benign intraepithelial dyskeratosis
  717335009	Mosaic trisomy 8 syndrome
  771305006	Progressive polyneuropathy with bilateral striatal necrosis
  766934006	Isolated unilateral hemispheric cerebellar hypoplasia
  720858001	Ehlers-Danlos syndrome cardiac valvular type
  54008006	Sternum bifidum
  312950007	Punctate inner choroidopathy
  765093009	Rolandic epilepsy, speech dyspraxia syndrome
  715427008	Acromelic frontonasal dysplasia
  719651000	2p15p16.1 microdeletion syndrome
  723384004	Mendelian susceptibility to mycobacterial disease due to complete ISG15 deficiency
  1269226006	Spondylometaphyseal dysplasia, corneal dystrophy syndrome
  783178001	Combined oxidative phosphorylation deficiency type 20
  829974003	Mosaic trisomy 1 syndrome
  718718009	X-linked cone dysfunction syndrome with myopia
  702427005	Hereditary diffuse leukoencephalopathy with spheroids
  765758008	Microcephalic primordial dwarfism Montreal type
  128080005	Neurotrophic keratitis
  207036003	Castleman disease
  720984008	Angel-shaped phalangoepiphyseal dysplasia
  24129002	Fasciitis with eosinophilia syndrome
  724274009	Infant epilepsy with migrant focal crisis
  426692001	Ethylene glycol poisoning
  233850007	Infective endocarditis
  57160007	Felty's syndrome
  773406003	Mandibular hypoplasia, deafness, progeroid syndrome
  23150001	Proteus syndrome
  724142005	Carbohydrate deficient glycoprotein syndrome type 2a
  62201009	Chronic non-neuropathic Gaucher's disease
  23610003	Anonychia
  723333000	Faciocardiorenal syndrome
  783099001	RIDDLE syndrome
  725140007	Temple Baraitser syndrome
  1197052008	Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic aciduria
  702421006	Familial encephalopathy with neuroserpin inclusion bodies
  314757003	Ocular cicatricial pemphigoid
  763213001	Conductive deafness, ptosis, skeletal anomalies syndrome
  719432000	Late-onset junctional epidermolysis bullosa
  87191000119100	Ganglioglioma
  724015007	Pyogenic arthritis, pyoderma gangrenosum, acne syndrome
  722066001	Oligocone trichromacy
  1220599002	Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
  768927001	Trisomy 1q syndrome
  11614003	Congenital stenosis of pulmonary veins
  763275001	Distal trisomy 6q
  719985001	Autosomal dominant limb girdle muscular dystrophy type 1A
  1156474009	Hemangioblastoma
  254092004	Saldino-Mainzer dysplasia
  719305006	Stapes ankylosis with broad thumb and toe syndrome
  715219001	Familial spontaneous pneumothorax
  276799004	Dermatofibrosarcoma protuberans
  1179288008	Combined immunodeficiency due to TFRC deficiency
  35434009	Sickle cell-hemoglobin C disease
  785304005	Autosomal recessive spastic paraplegia type 24
  763528002	Distal monosomy 3p syndrome
  60318001	Duane's syndrome
  403281007	Congenital onychodysplasia of index fingers
  785300001	Infantile-onset autosomal recessive non progressive cerebellar ataxia
  4945003	Microgyria
  783181006	Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
  723383005	Midline cleft of lower lip
  118601006	Non-Hodgkin's lymphoma (clinical)
  1228857005	Progressive myoclonic epilepsy type 9
  733115009	Congenital disorder of glycosylation type 1y
  763274002	Distal trisomy 5q syndrome
  763716008	Familial vesicoureteral reflux
  389165004	Brachyolmia - Maroteaux type
  4241002	Listeriosis
  890180006	Blepharophimosis epicanthus inversus ptosis syndrome plus
  715985008	Binder syndrome
  722292000	Autosomal dominant beta2-microglobulinic amyloidosis
  19362000	Cutaneous larva migrans
  785722006	Obesity due to leptin receptor gene deficiency
  783739005	Familial temporal lobe epilepsy
  1237625002	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
  713277006	Odontogenic keratocyst
  699315005	Neutral lipid storage disease with myopathy
  720494009	Anonychia with microcephaly syndrome
  253147000	Type 1 lissencephaly
  1197758001	Chronic bilirubin encephalopathy
  715437003	Neuronal intranuclear inclusion disease
  417065002	Thiel-Behnke corneal dystrophy
  1236844002	Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome
  1268528000	Primary olfactory neuroblastoma
  234622003	Factor H deficiency
  33982008	Hyperphosphatasemia with intellectual disability
  398049005	Mixed collagen vascular disease
  86422009	Retractile mesenteritis
  66351003	Foetal trimethadione syndrome
  719813003	X-linked mandibulofacial dysostosis
  404054005	Pleomorphic rhabdomyosarcoma
  703540008	Majeed syndrome
  79935000	Farber's lipogranulomatosis
  26179002	Congenital atresia of esophagus
  189179009	Craniopharyngioma
  771232003	Infectious epithelial keratitis
  783248004	Hyperimmunoglobulin M syndrome with susceptibility to opportunistic infection
  783740007	Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
  29248006	Metaphyseal chondrodysplasia, Schmid type
  109475005	Amelogenesis imperfecta, hypomaturation type
  360416003	Glutaryl-CoA dehydrogenase deficiency
  715223009	Fetal varicella syndrome
  773987000	Neonatal iodine exposure
  155441006	Polyarteritis nodosa
  725101002	Congenital short costocoracoid ligament
  720864008	Encephalopathy due to prosaposin deficiency
  1231737000	Rolandic epilepsy, paroxysmal exercise-induced dystonia, writer's cramp syndrome
  238006008	Disorder of purine and pyrimidine metabolism
  719834005	Wilson Turner syndrome
  770670003	Paternal uniparental disomy of chromosome 6
  18735004	Congenital omphalocele
  1254652005	Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
  717977003	Lissencephaly syndrome Norman Roberts type
  237885008	Familial hypocalciuric hypercalcemia
  1197494003	Hyaline fibromatosis syndrome
  26029002	Mild hereditary factor VIII deficiency disease
  253851000	Diphallus
  110980006	Generalized eruptive histiocytoma
  1162858007	Gonadoblastoma
  773698001	Late-onset focal dermal elastosis
  765744006	Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
  733518000	16p11.2p12.2 microduplication syndrome
  80880002	Omphalomesenteric duct cyst
  238874008	Neonatal pseudo-hydrocephalic progeroid syndrome
  774149004	Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome
  83799000	Corrected transposition of great vessels
  190785000	Hypoalphalipoproteinemia
  36233006	Congenital stenosis of tricuspid valve
  444911000	Acute myeloid leukemia with t(9:11)(p22;q23); MLLT3-MLL
  5315003	Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
  782824007	Sodium channelopathy-related small fiber neuropathy
  763402002	Spastic paraplegia, neuropathy, poikiloderma syndrome
  718759003	Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation
  1236805005	MEPAN syndrome
  1268721009	Primary malignant seminoma of testis
  402881008	Primary cutaneous B-cell lymphoma
  109433009	Steatocystoma multiplex
  716657000	Familial papillary thyroid carcinoma with renal papillary neoplasia syndrome
  773557002	Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome
  399970005	Xanthoma disseminatum
  8757006	Hecht syndrome
  44176004	Disorder of histidine metabolism
  724093004	Nephropathy, deafness, hyperparathyroidism syndrome
  783064000	Progressive myoclonic epilepsy type 3
  715374003	Autosomal dominant optic atrophy plus syndrome
  46683007	Pyruvate dehydrogenase complex deficiency
  719825000	X-linked intellectual disability, macrocephaly, macroorchidism syndrome
  722944006	Congenital hypogonadotropic hypogonadism
  1260191006	Acute radiation syndrome
  312514006	Netherton's syndrome
  47434006	Waardenburg syndrome
  764730007	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
  773984007	Piebald trait with neurologic defects syndrome
  737581000	Tibio-fibular synostosis
  110004001	Acute promyelocytic leukemia, FAB M3
  786039009	Arthrogryposis and ectodermal dysplasia syndrome
  128107007	Hereditary von Willebrand disease type 2
  297254006	Hepatic and muscle glycogen phosphorylase kinase deficiency
  721009008	Heart defect and limb shortening syndrome
  392559009	Tumor-induced osteomalacia
  717258005	Discrete papular lichen myxedematosus
  449270002	Hypoplasia of mitral valve annulus
  789660001	Atypical hemolytic uremic syndrome
  41572006	Mucopolysaccharidosis, MPS-III-A
  429233001	Nonneurogenic neurogenic bladder dysfunction
  732926009	Hydrocephalus, tall stature, joint laxity syndrome
  718232007	Pyogenic bacterial infection due to deficiency of myeloid differentiation primary response 88
  711412004	3-methylglutaconic aciduria type 5
  716590006	Juvenile nasopharyngeal angiofibroma
  46659004	Von Hippel-Lindau syndrome
  773304004	Spondylometaphyseal dysplasia Golden type
  111571009	Congenital atransferrinemia
  404081005	Yolk sac tumor
  719973009	Haim Munk syndrome
  69080001	Propionic acidemia
  1268636004	Primary squamous cell carcinoma of small intestine
  715342005	Alpha thalassemia X-linked intellectual disability syndrome
  827174006	Cervicofacial fibrochondroma
  773398005	Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
  124220008	Deficiency of steroid 17-alpha-monooxygenase
  715472000	Reinhardt Pfeiffer mesomelic dysplasia
  764856008	Acquired cystic disease associated renal cell carcinoma
  1228858000	Complex lethal osteochondrodysplasia
  1217370006	LAMA5-related multisystemic syndrome
  45639009	Hereditary cerebral amyloid angiopathy, Icelandic type
  1268544009	Primary carcinoma of gallbladder and extrahepatic biliary tract
  254290004	Lymphoproliferative disorder following transplantation
  1255323007	Spastic ataxia, dysarthria due to glutaminase deficiency
  95218005	Pure gonadal dysgenesis 46,XY
  29590001	Congenital total cataract
  721221000	Hirschsprung disease with deafness and polydactyly syndrome
  302847003	Rhabdomyosarcoma
  782786001	X-linked calvarial hyperostosis
  763665007	Craniodigital syndrome and intellectual disability syndrome
  719202006	Spondyloepiphyseal dysplasia tarda Kohn type
  719252002	Spinocerebellar ataxia type 27
  724383002	Hemidystonia hemiatrophy syndrome
  720575002	Braddock syndrome
  715865008	Familial isolated arrhythmogenic right ventricular dysplasia
  722212004	Severe X-linked mitochondrial encephalomyopathy
  95210003	Plasma cell leukemia
  45853006	Roussy-Lévy syndrome
  766715000	Metabolic myopathy due to lactate transporter defect
  763773007	Macrocephaly and developmental delay syndrome
  717186009	Intestinal malabsorption due to bile acid synthesis defect
  785307003	Lissencephaly with cerebellar hypoplasia type A
  82342003	Yellow mutant oculocutaneous albinism
  66038001	Miller syndrome
  763110007	Combined oxidative phosphorylation defect type 13
  1173035001	Combined oxidative phosphorylation defect type 25
  782882009	Chondrodysplasia with joint dislocations gPAPP type
  719251009	Spinocerebellar ataxia type 19
  69488000	Beaded hair
  733086003	Pseudoprogeria syndrome
  82725007	Progressive myositis ossificans
  72893007	Brachial neuritis
  723455009	Phakomatosis pigmentokeratotica
  35154004	Pemphigus foliaceus
  711480000	Activated PI3K-delta syndrome
  1279837000	Congenital cataract microcornea with corneal opacity
  397570008	Herpes simplex stromal keratitis
  400945000	Congenital sixth nerve palsy
  719165004	Spondyloepimetaphyseal dysplasia aggrecan type
  95330001	Linear IgA dermatosis
  782723007	Severe intellectual disability, progressive spastic diplegia syndrome
  782826009	Charcot-Marie-Tooth disease type 2P
  713516007	Primary effusion lymphoma
  54209007	Hidrotic ectodermal dysplasia syndrome
  702361006	Crouzon syndrome with acanthosis nigricans
  768926005	Extraneural perineurioma
  14534009	Splenic vein thrombosis
  764690001	Tetrasomy 21
  716859000	Hereditary diffuse carcinoma of stomach
  1172637002	Female infertility due to oocyte meiotic arrest
  716684004	Limbic encephalitis with N-methyl-D-aspartate receptor antibodies
  763829004	Oculopharyngodistal myopathy
  230264003	Troyer syndrome
  26201005	Aortic left ventricular tunnel
  1177165005	PMP2-related Charcot-Marie-Tooth disease type 1
  403760006	XXYY syndrome
  722065002	Okamoto syndrome
  770401007	10q22.3q23.3 microdeletion syndrome
  766765009	Radio-renal syndrome
  719394002	Microcephalus cleft palate syndrome
  703508009	Ear, patella, short stature syndrome
  40158001	Papillon-Lefèvre syndrome
  278051002	Malignant lymphoma of thyroid gland
  277572006	Precursor B-cell acute lymphoblastic leukemia
  718216009	Partial defect of atrioventricular canal
  715487005	Autosomal recessive distal osteolysis syndrome
  763127004	Benign paroxysmal tonic upgaze of childhood with ataxia
  85901000	Megacalycosis
  702809001	Drug reaction with eosinophilia and systemic symptoms
  359789008	Takayasu's disease
  70794004	Congenital pseudoarthrosis of clavicle
  763868006	SHOX-related short stature
  719660008	4q21 microdeletion syndrome
  445227008	Juvenile myelomonocytic leukemia
  413603009	Autoimmune hemolytic anemia
  1197754004	Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome
  238626006	Keratosis pilaris decalvans
  234375006	Transient erythroblastopenia of childhood
  1217225001	Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
  697970009	Giant cell tumor of bone
  75315001	Sympathetic uveitis
  715704001	Postaxial polydactyly type A
  764965000	Familial thoracic aortic aneurysm and aortic dissection
  716722005	Acute motor sensory axonal neuropathy
  763317002	Isolated congenital syngnathia
  254817005	Oculocutaneous melanocytic nevus
  724072002	Paroxysmal exertion-induced dyskinesia
  1268909004	Primary carcinofibroma of corpus uteri
  773489008	Hereditary cryohydrocytosis with normal stomatin
  702327009	Allan-Herndon-Dudley syndrome
  724206005	KRT14 related epidermolysis bullosa simplex
  782951006	Thoracic dysplasia and hydrocephalus syndrome
  702323008	Rapid onset dystonia parkinsonism
  64855000	Pelizaeus-Merzbacher disease
  716869006	Mendelian susceptibility to mycobacterial disease due to complete IL12RB1 deficiency
  1167373005	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
  72239002	Long narrow head
  361203007	Malonic aciduria
  715668008	Pituitary deficiency due to empty sella turcica syndrome
  1003380001	6q16 microdeletion syndrome
  77377001	Leptospirosis
  403395007	Linear atrophoderma of Moulin
  238028008	Sphingolipidosis
  81634008	Perineural cyst
  1230062001	Congenital atresia of inferior vena cava without azygos continuation
  1230314003	Fecal incontinence following creation of ileo-anal pouch
  715899006	Familial osteochondritis dissecans
  722210007	Parastremmatic dwarfism
  725906006	Intellectual disability Buenos Aires type
  237957007	3-Hydroxyisobutyric aciduria
  304737009	Familial hyperkalemic periodic paralysis
  720634003	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
  1208349005	Pediatric hepatocellular carcinoma
  192781003	Leukodystrophy
  771441005	Hyperbiliverdinemia
  778003000	Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
  702398007	Hyperferritinemia cataract syndrome
  234142008	Cerebral arteriovenous malformation
  398680004	Citrullinemia
  718712005	Carbohydrate deficient glycoprotein syndrome type 1m
  703226008	Familial cerebral saccular aneurysm
  771444002	Methylmalonic aciduria due to transcobalamin receptor defect
  783717008	PGM1-related congenital disorder of glycosylation
  773422002	East Texas bleeding disorder
  782884005	Pontine tegmental cap dysplasia
  715799004	Charcot-Marie-Tooth disease type 4G
  702360007	Congenital deafness with labyrinthine aplasia, microtia and microdontia
  773553003	Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
  413924001	Cortical visual impairment
  11244009	Polyglandular autoimmune syndrome, type 1
  718558008	Mevalonic aciduria
  1172684002	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
  711265009	Caveolin 3 related distal myopathy
  190687004	Phenylketonuria
  1222672002	3-methylglutaconic aciduria type 9
  707530009	Cystic hamartoma of lung and kidney
  1187215002	Tubulinopathy-associated dysgyria
  124214007	Deficiency of steroid 11-beta-monooxygenase
  773552008	Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome
  764628000	Mosaic trisomy 4 syndrome
  763310000	Acute necrotizing encephalopathy of childhood
  18166000	Accessory breast
  703267003	Cerebrofacial arteriovenous metameric syndrome type 1
  238763007	Generalized essential telangiectasia
  400965007	Congenital iris ectropion
  609221008	Paroxysmal kinesigenic dyskinesia
  205838004	Congenital hemihypertrophy
  1228875006	GCGR-related hyperglucagonemia
  1229876001	Lethal brain and heart developmental defects syndrome
  725903003	Autosomal dominant myoglobinuria
  738526005	Juvenile polymyositis
  768846004	NGLY1-congenital disorder of deglycosylation
  724137002	MOMO syndrome
  721836009	Hypertelorism with microtia and facial clefting syndrome
  764703002	7p22.1 microduplication syndrome
  897564008	Distal deletion of long arm of chromosome 12
  66987001	Congenital lobar emphysema
  1197366007	Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
  398447004	Severe acute respiratory syndrome
  1187128001	Charcot-Marie-Tooth disease type 2T
  715406003	Isolated lissencephaly type 1 without known genetic defect
  1187614006	Severe autosomal recessive macrothrombocytopenia
  719166003	Spondyloepimetaphyseal dysplasia matrilin-3 type
  766766005	1p31p32 microdeletion syndrome
  763691008	Familial isolated clinodactyly of finger
  42725006	Achondrogenesis, type IA
  718754008	Episodic ataxia type 4
  5102002	Agenesis of corpus callosum
  1255319004	Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome
  237983002	Fumarase deficiency
  716788007	Epstein-Barr virus positive diffuse large B-cell lymphoma of elderly
  41841004	Sideroblastic anemia
  783179009	Cranio-cervical dystonia with laryngeal and upper limb involvement
  719580004	16q24.3 microdeletion syndrome
  721085000	Deafness, enamel hypoplasia, nail defect syndrome
  719400000	Lethal faciocardiomelic dysplasia
  715720006	Brachydactyly type A1
  2707005	Necrotizing enterocolitis in fetus OR newborn
  766992008	Multicentric carpotarsal osteolysis syndrome
  1281844004	Dystonia 28
  1268459000	Primary adrenal cortical carcinoma
  773418007	XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation
  239918008	Undifferentiated connective tissue disease
  403835002	X-linked hyper-IgM syndrome
  763070001	Autosomal dominant spastic paraplegia type 42
  238898001	Semicircular lipoatrophy
  52138004	Streptobacillary fever
  75614007	Panuveitis
  723993005	Sensorineural deafness with dilated cardiomyopathy syndrome
  233666007	Young's syndrome
  128106003	Hereditary von Willebrand disease type 1
  1208727002	Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
  715629001	Generalized epilepsy and paroxysmal dyskinesia syndrome
  717975006	Autosomal dominant optic atrophy and peripheral neuropathy syndrome
  718574003	Abruzzo Erickson syndrome
  128116006	Infectious disease of nervous system
  403782004	Ichthyosis follicularis with alopecia and photophobia (IFAP)
  237764004	Congenital adrenal hypoplasia, X-linked
  128108002	Hereditary von Willebrand disease type 3
  1234906009	46,XX ovotesticular disorder of sex development
  419074008	Central cloudy dystrophy of Francois
  766816008	2q23.1 microduplication syndrome
  733604003	Microcephalus, lymphedema, chorioretinopathy syndrome
  763821001	Porencephaly, cerebellar hypoplasia, internal malformations syndrome
  190745006	Galactosemia
  716456000	3q29 microdeletion syndrome
  1172701002	Facial diplegia with paresthesia
  1237420004	X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome
  66576001	African nutritional hemochromatosis
  773625007	Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
  722027009	Kallman syndrome with heart disease
  716169009	Morse Rawnsley Sargent syndrome
  128062001	Congenital portal-systemic shunt
  726081005	Hereditary hypophosphatemic rickets with hypercalciuria
  771333006	Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome
  765326001	Familial glucocorticoid deficiency
  68618008	Rett's disorder
  191177007	Hemolytic anemia due to hexokinase deficiency
  765325002	Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease
  718107000	T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency
  405287008	Intermediate maple syrup urine disease
  715624006	CANOMAD syndrome
  783159001	Holzgreve syndrome
  774068004	AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
  267619000	Non-infectious anterior uveitis
  278453007	Acute biphenotypic leukemia
  722284009	Hypoplasia and coloboma of alar cartilage with telecanthus syndrome
  707443007	Autoimmune pulmonary alveolar proteinosis
  63387002	Larsen syndrome
  773397000	Non-hypoproteinemic hypertrophic gastropathy
  126729006	Thrombotic microangiopathy
  405822008	Squamous cell carcinoma of larynx
  49817004	Neonatal diabetes mellitus
  1187178004	Isolated generalized anhidrosis with normal sweat glands
  233913007	Familial sick sinus syndrome
  417395001	Congenital hereditary endothelial dystrophy type 2
  733085004	Congenital disorder of glycosylation type 1p
  721845005	Hypomandibular faciocranial dysostosis
  703539006	Manitoba oculotrichoanal syndrome
  74351001	Reye's syndrome
  63402005	Meigs' syndrome
  773642001	Painful orbital and systemic neurofibroma, marfanoid habitus syndrome
  721014007	Heart-hand syndrome Slovenian type
  62192003	Diprosopus
  720521008	Autosomal dominant macrothrombocytopenia
  768935003	Multiple epiphyseal dysplasia Lowry type
  1268904009	Primary epithelioid haemangioendothelioma
  770681000	Robin sequence and oligodactyly syndrome
  725100001	Craniolenticulosutural dysplasia
  1260197005	Idiopathic non-lupus full-house nephropathy
  1230376005	CNTNAP2-related developmental and epileptic encephalopathy
  55166000	Familial osteoarthropathy of the fingers
  1263445009	Familial gigantiform cementoma of jaw
  717286002	Grayson Wilbrandt corneal dystrophy
  238821003	Idiopathic mid-dermal elastolysis
  784350004	Craniorhiny
  1260240000	Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha
  726732002	X-linked intellectual disability Nascimento type
  84598000	Polysyndactyly
  254088006	Brachyolmia
  782676009	Distal trisomy 18q
  778004006	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
  254144002	Osteoglophonic dysplasia
  449821007	Branchiooculofacial syndrome
  86907008	Acquired generalized lipodystrophy
  6729006	Cerebrofacial arteriovenous metameric syndrome type 2
  773325004	Distal 7q11.23 microduplication syndrome
  229703009	Developmental verbal dyspraxia
  54682008	Congenital hypoplasia of pulmonary artery
  1279844009	Primary triglyceride deposit cardiomyovasculopathy
  719845008	Van den Ende-Gupta syndrome
  59989004	Infestation by Dermatobia hominis
  1260134001	Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome
  725048002	Charcot-Marie-Tooth disease type 2B1
  787408008	Osteopathia striata, pigmentary dermopathy, white forelock syndrome
  733030003	Congenital hypoplasia of ulna and split foot syndrome
  733084000	Congenital disorder of glycosylation type 1n
  718605009	Congenital pontocerebellar hypoplasia type 7
  715830008	Exercise-induced hyperinsulinism
  726721002	Nodal marginal zone B-cell lymphoma
  786037006	Familial isolated hyperparathyroidism
  724069009	Patterson Stevenson Fontaine syndrome
  1003399005	Congenital anomaly of first branchial cleft
  35045004	Microtia
  783199003	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
  716996008	L1 syndrome
  771443008	Complement component 3 deficiency
  38215007	Oculodentodigital syndrome
  73328005	Infection by Dirofilaria
  1236845001	DONSON-related microcephaly, short stature, limb abnormalities spectrum
  715339004	Autosomal dominant keratitis
  447596005	Myelodysplastic/myeloproliferative neoplasm, unclassifiable
  771184001	Leukoencephalopathy, palmoplantar keratoderma syndrome
  6124009	Primary lymphangiectasis of intestine
  722385008	CEDNIK syndrome
  399165002	Burning mouth syndrome
  724172004	McLeod neuroacanthocytosis syndrome
  94719007	Myeloid sarcoma
  702575003	Retinocochleocerebral vasculopathy
  715505002	Rhizomelic dysplasia Patterson Lowry type
  718228001	Fetal iodine syndrome
  24308003	Cystathionine beta-synthase deficiency
  724091002	Neuroectodermal melanolysosomal disease
  191169008	Hereditary elliptocytosis
  721626003	Primary malignant neuroendocrine neoplasm of oesophagus
  766709000	Isolated cerebellar vermis hypoplasia
  253405007	Accessory tissue on mitral leaflet
  700242002	Fowler syndrome
  294705005	Weber-Cockayne syndrome
  715752006	Spinocerebellar ataxia type 6
  773700005	Leukonychia totalis, acanthosis-nigricans-like lesions, abnormal hair syndrome
  718215008	Graham Little Piccardi Lassueur syndrome
  253658008	Persisting fifth aortic arch
  723365002	Hypotrichosis and intellectual disability syndrome Lopes type
  82966003	Hereditary angioedema
  721100009	COG5 congenital disorder of glycosylation
  766252004	Juvenile overlap myositis
  237921002	Disorder of catecholamine synthesis
  76520005	Robinow syndrome
  1187113001	Mucopolysaccharidosis-like plus disease
  86299006	Tetralogy of Fallot
  239085000	Symmetrical dyschromatosis of extremities
  31384009	Polymyositis
  719842006	Congenital hypoplasia of ulna and intellectual disability syndrome
  720523006	Autosomal recessive limb girdle muscular dystrophy type 2K
  708030004	Pulmonary emphysema co-occurrent with fibrosis of lung
  782669004	10q22.3q23.3 microduplication syndrome
  720502000	Arachnodactyly and intellectual disability with facial dysmorphism syndrome
  410056006	Tyrosinemia type I
  389237009	Blomstrand dysplasia
  722455002	Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome
  721902002	Schilbach Rott syndrome
  718213001	Polyneuropathy associated with monoclonal immunoglobulin M antibodies to myelin-associated glycoprotein
  764993001	Mycoplasma pneumoniae encephalitis
  764846009	Adenocarcinoma of penis
  239066003	Hereditary palmoplantar keratoderma
  1222667006	PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis
  1252747005	Polymorphic eruption of pregnancy
  717331000	Familial thyroglossal duct cyst
  764861005	Intellectual disability Birk-Barel type
  85223007	Complication of hemodialysis
  29914000	Dihydrolipoamide dehydrogenase deficiency
  699867001	Duane-radial ray syndrome
  766049000	Acute sensory ataxic neuropathy
  715868005	Primary unilateral adrenal hyperplasia
  192759008	Cerebral venous sinus thrombosis
  414015000	Disease caused by Orthopoxvirus
  81166004	Properdin deficiency disease
  764945007	Congenital myopathy with internal nuclei and atypical cores
  715644000	Glomuvenous malformation
  308121000	Follicular non-Hodgkin's lymphoma
  47523006	Western equine encephalitis
  1228881003	ALECT2 amyloidosis
  1197150002	Recurrent hepatitis C virus induced liver disease following liver transplant
  7377003	Sclerosing mediastinitis
  22933009	G-6-PD class I variant anemia
  404069006	Myxoid liposarcoma
  283645003	Lev's syndrome
  239006001	Ectodermal dysplasia with hair-tooth-nail-sweating defect
  773495009	Episodic ataxia with slurred speech
  716709002	FRAXE intellectual disability syndrome
  722005000	Iron-refractory iron deficiency anemia
  783201001	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  7169009	Congenital supravalvular aortic stenosis
  109988003	Histiocytic sarcoma (clinical)
  254250002	Fetal cocaine syndrome
  764736001	Autosomal recessive spastic paraplegia type 43
  397568004	Granular corneal dystrophy type II
  716007007	Lowry Yong syndrome
  274945004	AA amyloidosis
  1229895008	8q24.3 microdeletion syndrome
  95323007	Scleredema
  719020006	Pallister W syndrome
  253001006	Merkel cell carcinoma
  771439009	14q22q23 microdeletion syndrome
  427972000	Pudendal neuralgia
  35484002	Aplasia cutis congenita
  764858009	Isolated agammaglobulinemia
  448542008	Autoimmune pancreatitis
  360369003	Holocarboxylase synthase deficiency
  763273008	Distal trisomy 4q
  1172605003	Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
  763718009	Finnish upper limb onset distal myopathy
  723406000	Mycophenolate mofetil embryopathy
  720463009	Adducted thumbs and arthrogryposis syndrome Christian type
  404109006	Follicular mucinosis type mycosis fungoides
  725136003	Immunodeficiency by defective expression of human leukocyte antigen class 1
  95198001	Pure gonadal dysgenesis 46,XX
  723461007	Pierre Robin sequence faciodigital anomaly syndrome
  52868006	Oral-facial-digital syndrome
  698290008	X-linked creatine deficiency
  715421009	Craniofrontonasal dysplasia
  702354007	Christianson syndrome
  724351008	Hereditary hyperekplexia
  715429006	Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
  773663004	Rapid-onset childhood obesity, hypothalamic dysfunction, hypoventilation, autonomic dysregulation syndrome
  763066009	Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome
  449814007	Trigeminal autonomic cephalalgia
  719098007	Brain lung thyroid syndrome
  237877004	Wild type ATTR amyloidosis
  763863002	Pectus excavatum, macrocephaly, dysplastic nails syndrome
  722477003	Toriello Carey syndrome
  392662004	West Nile encephalitis
  36517007	Polyostotic fibrous dysplasia of bone
  414488002	Infantile botulism
  34566007	Sialic acid storage disease, severe infantile type
  65764006	Pseudo-Hurler polydystrophy
  716006003	Gollop Wolfgang complex
  36739006	Pemphigus erythematosus
  726724005	Splenogonadal fusion, limb defect, micrognathia syndrome
  770790004	Developmental delay with autism spectrum disorder and gait instability
  62311004	Mannosidosis, type I
  717254007	Familial pseudohyperkalemia
  230426003	Myoclonic epilepsy with ragged red fibers
  1186734006	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
  721888002	Scalp, ear, nipple syndrome
  62335009	Congenital stenosis of inferior vena cava
  15552004	Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
  719840003	Ulbright Hodes syndrome
  33559001	Rabson-Mendenhall syndrome
  128875000	Primary cutaneous CD30+ large T-cell lymphoma
  409709004	Chromosomal disorder
  766818009	X-linked non progressive cerebellar ataxia
  717263009	Transient pseudohypoaldosteronism
  719574007	14q12 microdeletion syndrome
  124122005	Deficiency of 3-hydroxyacyl-CoA dehydrogenase
  1204415006	Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
  721069005	Short fifth metacarpal insulin resistance syndrome
  1208346003	Congenital hydrocephalus, low insertion of umbilicus syndrome
  732955001	Symphalangism with multiple anomalies of hands and feet syndrome
  423294001	Idiopathic hypereosinophilic syndrome
  720752007	Coxopodopatellar syndrome
  239084001	Naegeli-Franceschetti-Jadassohn syndrome
  773333003	Autosomal systemic lupus erythematosus
  733419006	Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
  1231281009	46,XY disorder of sex development due to isolated 17,20-lyase deficiency
  719685004	Absent thumb with short stature and immunodeficiency syndrome
  771149000	Hepatic fibrosis, renal cyst, intellectual disability syndrome
  67155006	Gerstmann-Straussler-Scheinker syndrome
  783091003	46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
  302953002	Agenesis of gallbladder
  50189006	Hereditary factor XIII deficiency disease
  1279843003	Short rib polydactyly syndrome type 5
  714279000	Human T-cell lymphotropic virus 1-associated myelopathy
  68092007	Anomalous origin of pulmonary artery
  702412005	Partington syndrome
  58037000	Cowden syndrome
  297225000	Maternal phenylketonuria
  763839005	Neonatal Marfan syndrome
  253170008	Hemimegalencephaly
  19886006	Sturge-Weber syndrome
  773990006	Isolated asymptomatic elevation of creatine phosphokinase
  1231735008	Isolated bone marrow mastocytosis
  129452008	Nonspecific interstitial pneumonia
  59763006	Hyperphosphatasemia tarda
  448920004	Congenital abnormality of mitral subvalvular apparatus
  733454004	Long thumb brachydactyly syndrome
  719686003	Distal monosomy 10p
  719046005	12q14 microdeletion syndrome
  789008006	Posterior uveitis due to infectious disease
  715674008	Multiple epiphyseal dysplasia type 5
  1264340007	Familial gastric type 1 neuroendocrine neoplasm
  1208725005	Multifocal lymphangioendotheliomatosis, thrombocytopenia syndrome
  397016004	Systemic mast cell disease
  4887000	Tyrosinemia type 2
  717052002	Maternally inherited Leigh syndrome
  764956007	Larsen-like osseous dysplasia, short stature syndrome
  773738009	Chronic Epstein-Barr virus infection syndrome
  1162856006	Neuroendocrine neoplasm of colon
  734023003	Sporadic adult-onset ataxia of unknown etiology
  1197153000	Typical nemaline myopathy
  763792009	Leukonychia totalis
  88776002	Hereditary factor V deficiency disease
  49024004	4p partial trisomy syndrome
  1208726006	Fever-associated acute infantile liver failure syndrome
  770433003	Ectasia of right atrial appendage
  766927009	Familial supernumerary nipple
  722108000	Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
  725026008	Hepatic glycogen synthase deficiency
  1186723008	Prepubertal anorexia nervosa
  717042001	Pelizaeus Merzbacher like disease
  719201004	Spondyloepimetaphyseal dysplasia Shohat type
  1269225005	Hemolytic uremic syndrome with DGKE deficiency
  1285323003	Inverse Klippel Trénaunay syndrome
  724499007	Idiopathic acute eosinophilic pneumonia
  30915001	Holoprosencephaly sequence
  764711007	Xq12-q13.3 duplication syndrome
  27025001	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
  120639003	Hantavirus pulmonary syndrome
  110005000	Acute myelomonocytic leukemia, FAB M4
  827172005	X-linked progressive cerebellar ataxia
  444838008	Deficiency of 2-methylbutyryl-CoA dehydrogenase
  703403003	Ophthalmo-acromelic syndrome
  717044000	Adult onset non-insulinoma persistent hyperinsulinemic hypoglycemia
  190959006	Hemophagocytic lymphohistiocytosis due to infection
  771073006	Lymphoproliferative disorder caused by methotrexate
  1197757006	Acute bilirubin encephalopathy
  1230239009	Congenital laryngotracheoesophageal cleft
  128091003	Primary ITP (immune thrombocytopenia)
  111864006	Chikungunya fever
  86997002	Ring chromosome 10 syndrome
  774207004	Acute infantile liver failure with multisystemic involvement syndrome
  762543009	Necrolytic acral erythema
  403805009	Albinism-deafness syndrome of Tietz
  428850001	Li-Fraumeni syndrome
  716280004	Congenital tubular duplication of esophagus
  732246009	X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
  733472005	Microcephalus, glomerulonephritis, marfanoid habitus syndrome
  719661007	5q14.3 microdeletion syndrome
  69015003	Double urethra
  715201005	Congenital short bowel syndrome
  725150008	Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency
  51409009	Asymmetric crying face association
  734018003	Ectodermal dysplasia trichoodontoonychial type
  236461000	Distal renal tubular acidosis
  254820002	Follicular atrophoderma and basal cell epitheliomata
  778007004	12p12.1 microdeletion syndrome
  717256009	Hereditary hypotrichosis simplex of scalp
  725394006	Autosomal recessive ataxia due to ubiquinone deficiency
  765057007	BAP1 tumor predisposition syndrome
  443487006	Mantle cell lymphoma
  707250009	Vulvovaginal gingival syndrome
  44600005	Xeroderma pigmentosum
  253657003	Cervical aortic arch
  236527004	Nail patella-like renal disease
  718230004	Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 1 deficiency
  1186712009	Combined immunodeficiency due to CARMIL2 deficiency
  722380003	Martsolf syndrome
  715793003	Acetazolamide responsive myotonia
  89392001	Prader-Willi syndrome
  95472001	Multiple gastrointestinal atresias
  1187508009	Immunoglobulin G4 related aortitis
  373421000	Diarrhea-associated hemolytic uremic syndrome
  720518006	Athabaskan brainstem dysgenesis syndrome
  783059004	Atypical dentin dysplasia due to SMOC2 deficiency
  720861000	Ehlers-Danlos syndrome progeroid type
  773346008	20p13 microdeletion syndrome
  770908007	49,XXXYY syndrome
  70041004	Erythrokeratodermia variabilis
  21954000	Herpes zoster auricularis
  733029008	Autosomal dominant spastic paraplegia type 29
  240105009	Viral myositis
  719157002	X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome
  1268640008	Primary lymphoepithelial carcinoma
  717887003	Biemond syndrome type 2
  784348007	Familial congenital mirror movements
  177504007	Acheiropodia
  771300001	Hereditary progressive mucinous histiocytosis
  763865009	Pilocytic astrocytoma
  1174000008	Congenital generalized hypercontractile muscle stiffness syndrome
  302822000	Insulinoma
  24269006	Distal arthrogryposis syndrome
  717014003	Autosomal dominant Charcot-Marie-Tooth disease type 2J
  722458000	Matthew Wood syndrome
  254960002	Gonadotroph adenoma
  254223007	Cutis laxa, recessive, type II
  722870008	IgG4-related sclerosing cholangitis
  699754008	Oculodental syndrome
  718690009	Congenital hypothyroidism due to absence of thyroid gland
  1260116000	Primary malignant stromal sarcoma of endometrium
  78960005	Pancreatic triacylglycerol lipase deficiency
  719258003	Pyknoachondrogenesis
  770665005	Non-distal monosomy 10q
  59531002	Tryptophan malabsorption syndrome
  703388005	GRACILE syndrome
  239020008	Fried's tooth and nail syndrome
  771335004	Ectodermal dysplasia syndactyly syndrome
  312935003	Capillary hemangioma of retina
  68237008	Partial anomalous pulmonary venous connection
  716166002	Microcornea with glaucoma and absent frontal sinus syndrome
  716999001	Joubert syndrome with renal defect
  205828009	Biemond's syndrome
  205468002	Hypochondroplasia
  723452007	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
  29227009	Nocardiosis
  412787009	Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
  765487008	Ring chromosome 5 syndrome
  42808000	Longitudinal deficiency of tibia
  766935007	Primary bone lymphoma
  763203009	Combined oxidative phosphorylation defect type 15
  765188009	Severe combined immunodeficiency due to complete RAG1 and/or RAG2 deficiency
  1187303004	Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome
  720602007	Camptodactyly syndrome Guadalajara type 1
  20852007	Romano-Ward syndrome
  770686005	Malignant germ cell neoplasm of vagina
  74107003	Acromegaly
  735421004	Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome
  715440003	Mirror hands and feet co-occurrent with nasal defect
  780817000	Undifferentiated myeloproliferative disease
  403984006	Composite hemangioendothelioma
  1187623009	Phosphoglucomutase 3-related congenital disorder of glycosylation
  1268545005	Primary transitional cell carcinoma of corpus uteri
  1237342004	Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
  771072001	Monosomy 9p
  702357000	Chromosome 2q37 deletion syndrome
  255032005	Medullary thyroid carcinoma
  1269044006	Primary desmoplastic small round cell tumor
  124309005	Deficiency of sedoheptulokinase
  1179293006	Erythrokeratodermia cardiomyopathy syndrome
  783701002	Port-wine nevi, mega cisterna magna, hydrocephalus syndrome
  724384008	Helicoid peripapillary chorioretinal degeneration
  715800000	Charcot-Marie-Tooth disease type 4B2
  715524004	Delayed membranous cranial ossification
  771470001	Jawad syndrome
  254005007	Midline facial cleft - Tessier cleft 14
  32393008	Poisoning by fluorouracil
  1279836009	Familial multinodular goiter syndrome
  254004006	Midline facial cleft - Tessier cleft 0
  61493004	Mu heavy chain disease
  717049005	Trisomy 17p
  719159004	Syndactyly type 5
  2040007	Neurogenic thoracic outlet syndrome
  890123006	3p25.3 deletion syndrome
  608817003	Pituicytoma
  86268005	Achondroplasia
  277844007	Pulmonary lymphangioleiomyomatosis
  109984001	Gamma heavy chain disease (clinical)
  238030005	Galactocerebroside beta-galactosidase deficiency - early onset
  1230323000	Sepsis of premature infant
  240119009	Focal nodular myositis
  702440000	Arginine:glycine amidinotransferase deficiency
  764959000	Intellectual disability, myopathy, short stature, endocrine defect syndrome
  722376008	Autosomal recessive popliteal pterygium syndrome
  1222661007	Early-onset calcifying leukoencephalopathy, skeletal dysplasia
  277869007	Non-tuberculous mycobacterial pneumonia
  723611008	Split hand, split foot malformation with sensorineural hearing loss syndrome
  67049004	Vitamin D-dependent rickets, type 1
  766759009	Vulvovaginal rhabdomyosarcoma
  770566002	Monosomy 13q14 syndrome
  1208485009	Multiple mitochondrial dysfunctions syndrome type 1
  716092007	Schmitt Gillenwater Kelly syndrome
  782742006	Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
  737313007	Primary malignant neuroendocrine neoplasm of ileum
  5364006	Uterus subseptus
  1186715006	Combined immunodeficiency due to CD70 deficiency
  782720005	Congenital pontocerebellar hypoplasia type 10
  387732009	Becker muscular dystrophy
  397014001	Diffuse erythrodermic mastocytosis
  764997000	Non-distal trisomy 9q
  766249007	Lowe Kohn Cohen syndrome
  783703004	White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
  1145155005	Lead and/or lead compound poisoning
  818962009	Seromucinous cystadenoma of ovary in childhood
  819949002	Infestation by Cordylobia rodhaini
  1169362009	Overgrowth syndrome with 2q37 translocation
  771516000	Solute carrier family 35 member A2 congenital disorder of glycosylation
  201048007	Localized scleroderma
  716277000	Chronic diarrhea due to glucoamylase deficiency
  238025006	GM1 gangliosidosis
  1268900000	Primary linitis plastica of stomach
  716865000	Congenital infection caused by enterovirus
  1010642001	Sporadic infantile bilateral striatal necrosis
  717940006	BNAR syndrome
  233788001	Tracheobronchomalacia
  718714006	Deafness and hypogonadism syndrome
  254061001	Achondrogenesis, type II
  1260194003	Idiopathic steroid-resistant nephrotic syndrome
  1260143005	Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
  297233004	3-Methylglutaconic aciduria type 4
  719431007	Autosomal dominant late-onset retinal degeneration
  733452000	Leukoencephalopathy, dystonia, motor neuropathy syndrome
  715794009	RAVINE syndrome
  721084001	Deaf blind hypopigmentation syndrome Yemenite type
  720754008	Craniofacial conodysplasia syndrome
  719948009	Trigonocephaly with bifid nose and acral anomaly syndrome
  733601006	Congenital disorder of glycosylation type 1q
  764619001	Mosaic trisomy 15 syndrome
  818963004	Posterior hypospadias
  719044008	Partial pancreatic agenesis
  716112005	Kawashima Tsuji syndrome
  75610003	Mucopolysaccharidosis, MPS-I
  91637004	Myasthenia gravis
  763344007	Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
  193497004	Vogt-Koyanagi-Harada disease
  717043006	Calciphylaxis cutis
  427086003	Bickerstaff's brainstem encephalitis
  85904008	Paratyphoid fever
  23097003	Kyasanur Forest disease
  420788006	Primary intraocular non-Hodgkin malignant lymphoma
  715318006	Ehlers-Danlos syndrome classic type
  1237573001	Punctate acrokeratoderma freckle-like pigmentation
  63702009	Alstrom syndrome
  40278002	Essential benign fructosuria
  1279841001	Undifferentiated carcinoma with osteoclast-like giant cells of pancreas
  720957007	Fountain syndrome
  721015008	Hydrocephalus with endocardial fibroelastosis and cataract syndrome
  234405009	Triose phosphate isomerase deficiency
  237963003	Disorder of galactose metabolism
  718224004	Progressive hemifacial atrophy
  472317002	Histiocytoid mitochondrial cardiomyopathy
  722067005	Severe combined immunodeficiency with hypereosinophilia
  42012007	Neuronal ceroid lipofuscinosis
  716008002	Gingival fibromatosis and hypertrichosis syndrome
  715646003	Desmin related myopathy with Mallory body-like inclusions
  29570005	Leigh's disease
  719156006	X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome
  438504004	Lenz microphthalmia syndrome
  703335004	Arteriovenous malformation of maxilla
  307604008	Mesoblastic nephroma
  1179301003	DYRK1A-related intellectual disability syndrome
  783700001	Syndactyly, polydactyly, ear lobe syndrome
  702384004	Intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomaly syndrome
  722206009	Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome
  418839003	Tubulointerstitial nephritis with uveitis syndrome
  1279845005	Combined oxidative phosphorylation defect type 39
  726079008	Hereditary hypercarotenemia and vitamin A deficiency
  703522009	Biotin-thiamine-responsive basal ganglia disease
  1231179003	Idiopathic avascular necrosis of bone
  763884007	Splenic diffuse red pulp small B-cell lymphoma
  738527001	Myeloid and/or lymphoid neoplasm associated with platelet derived growth factor receptor alpha rearrangement
  718756005	Episodic ataxia type 5
  92503002	Neurofibromatosis type 2
  110002002	Mast cell leukemia (clinical)
  771341006	14q11.2 microduplication syndrome
  43763009	Glossopharyngeal neuralgia
  715776003	Spastic paraplegia type 7
  715980003	Encephalopathy due to sulfite oxidase deficiency
  25362006	HSMN IV
  66948001	Cleft palate with cleft lip
  54160000	Congenital aneurysm of sinus of Valsalva
  253159001	Schizencephaly
  763314009	Congenital muscular dystrophy with hyperlaxity
  1186709006	FLNA-related X-linked myxomatous valvular dysplasia
  1285319006	Isolated aplasia of optic nerve
  715216008	Sheldon-Hall syndrome
  715491000	Autosomal recessive spastic paraplegia type 11
  717814004	Glossopalatine ankylosis
  725042001	Autosomal recessive limb girdle muscular dystrophy type 2J
  360994007	Deficiency of prolidase
  233858000	Familial mitral valve prolapse
  1197362009	STAT3-related early-onset multisystem autoimmune disease
  277656005	Primary pulmonary hypoplasia
  703526007	Neuronal ceroid lipofuscinosis 8
  443095000	Hemicrania continua
  78373000	Sucrase-isomaltase deficiency
  78314001	Osteogenesis imperfecta
  17342003	Familial erythrocytosis
  783180007	Combined hyperactive dysfunction syndrome of cranial nerves
  204739008	Congenital aganglionic megacolon
  75053002	Acute febrile mucocutaneous lymph node syndrome
  783705006	Sporadic hyperekplexia
  6996004	Congenital absence of pulmonary valve
  722058005	Oculocutaneous albinism type 6
  1162915007	Congenital accessory tissue of tricuspid valve
  230672006	Congenital myasthenic syndrome
  193687000	Oguchi's disease
  1260130005	Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome
  703524005	Spinal muscular atrophy with progressive myoclonic epilepsy
  419197009	Lattice corneal dystrophy Type I
  1264114007	Congenital non-syndromic anorectal malformation
  715829003	Familial advanced sleep phase syndrome
  1222657001	PRUNE1-related neurological syndrome
  723308003	Epidermolysis bullosa simplex with muscular dystrophy
  420120006	Gastrointestinal stromal tumor
  240087000	Myopathy with tubular aggregates
  1167375003	Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome
  715314008	Digitotalar dysmorphism
  239013001	Anonychia with bizarre flexural pigmentation
  718715007	Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome
  716662004	Autosomal dominant late onset Parkinson disease
  718551002	Moyamoya disease with early onset achalasia
  699447001	Zimmermann-Laband syndrome
  81780002	Beckwith-Wiedemann syndrome
  233878008	Familial restrictive cardiomyopathy
  716685003	Solitary rectal ulcer syndrome
  1220595008	Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome
  782673001	Distal monosomy 4q
  312491004	Serpiginous choroiditis
  784371009	Huntington disease-like 1
  700063005	Megalencephaly capillary malformation
  378007	Morquio syndrome
  1187507004	Immunoglobulin G4 related kidney disease
  719520001	Benign concentric annular macular dystrophy
  722382006	Cataract and microcornea syndrome
  715923003	Lysosomal acid lipase deficiency
  45116002	Sepiapterin reductase deficiency
  15689008	Pseudohypoaldosteronism, type 2
  402468007	Scleromyxedema
  237923004	Dopamine beta-hydroxylase deficiency
  782945001	Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome
  47000000	Acute transverse myelitis
  28770003	Polycystic kidney disease, infantile type
  238719003	Twenty nail dystrophy
  724576005	Pyridoxal 5-phosphate dependent epilepsy
  819953000	Glycogen storage disease due to muscle phosphorylase kinase deficiency
  719204007	Spondyloepiphyseal dysplasia Maroteaux type
  234437005	Hemophagocytic lymphohistiocytosis
  90505000	Autosomal recessive hypophosphatemic vitamin D refractory rickets
  46775006	Respiratory distress syndrome in the newborn
  771446000	Follicular cholangitis and pancreatitis
  253138008	Semi-lobar holoprosencephaly
  403834003	Hyperimmunoglobulinemia D with periodic fever
  702949005	Proopiomelanocortin deficiency syndrome
  443643007	Ependymoma
  716712004	Secondary pulmonary hemosiderosis
  722283003	Agnathia, holoprosencephaly, situs inversus syndrome
  770666006	Non-distal trisomy 10q
  719398004	Malignant hyperthermia with arthrogryposis and torticollis syndrome
  715533002	MMEP syndrome
  1187467000	Autosomal recessive spastic paraplegia type 9B
  31925001	Hereditary factor I deficiency disease
  719453009	Congenital dyserythropoietic anemia type IV
  699298009	Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
  76642003	Factor X deficiency
  717221005	Metaphyseal dysplasia Braun Tinschert type
  200938002	Discoid lupus erythematosus
  1231178006	Hereditary continuous muscle fiber activity
  110007008	Adult T-cell leukemia/lymphoma
  770432008	Ectasia of left atrial appendage
  717259002	Papular mucinosis of infancy
  715575001	Distal arthrogryposis type 4
  773773006	Acrodysplasia scoliosis
  733623005	Autism spectrum disorder, epilepsy, arthrogryposis syndrome
  54122009	Eales' disease
  723675006	Sialidosis type 1
  20957000	Disorder of carbohydrate metabolism
  5217008	Stiff-person syndrome
  71904008	SCID (severe combined immunodeficiency) due to absent class II HLA (human leukocyte antigens)
  237999008	Mitochondrial trifunctional protein deficiency
  778026007	Lethal polymalformative syndrome Boissel type
  1222668001	CELSR1-related late-onset primary lymphedema
  723866006	Idiopathic ventricular fibrillation not Brugada type
  721862000	Joubert syndrome with oculorenal defect
  721207002	Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
  85505000	Adult spinal muscular atrophy
  40855001	Hereditary factor VII deficiency disease
  417183007	Fleck corneal dystrophy
  771339005	Hyperzincemia and hypercalprotectinemia
  726702005	Epileptic encephalopathy with global cerebral demyelination
  702785000	Large cell anaplastic lymphoma T cell and Null cell type
  708028001	Congenital pulmonary alveolar capillary dysplasia
  724350009	Hereditary hypotrichosis with recurrent skin vesicles syndrome
  725590001	Butterfly-shaped pigmentary macular dystrophy
  74008005	5p partial trisomy
  439699000	Hereditary antithrombin III deficiency
  724174003	Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome
  51022005	Erythropoietic protoporphyria
  1231150005	Isolated foveal hypoplasia
  389264005	Genochondromatosis
  721306009	Therapy related acute myeloid leukemia and myelodysplastic syndrome
  722037004	MEHMO syndrome
  253737007	Congenital laryngomalacia
  25668000	Murine typhus
  49120005	Retroperitoneal fibrosis
  19138001	Epidermodysplasia verruciformis
  722452004	Guttmacher syndrome
  718750004	COG1 congenital disorder of glycosylation
  609515005	Epithelioid trophoblastic tumor
  717968005	Melanoma and neural system tumor syndrome
  59068006	Congenital dislocation of knee
  1172699002	Hereditary thrombocytopenia with early-onset myelofibrosis
  40354009	De Lange syndrome
  720817008	Craniosynostosis Boston type
  203928008	Iniencephaly - open
  763532008	Familial nasal acilia
  722034006	Median nodule of upper lip
  782680004	Gangliocytoma of central nervous system
  128862000	Cutaneous pseudolymphoma
  63175003	Localized extracutaneous mastocytosis
  314270008	Persistent hyperplastic primary vitreous
  234363001	Selective malabsorption of cyanocobalamin
  1197587003	Lethal neonatal spasticity, epileptic encephalopathy syndrome
  818959006	Trichorhinophalangeal syndrome type 1 and 3
  4834000	Typhoid fever
  719205008	Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
  763353000	Cerebrofacioarticular syndrome
  725291001	Defect of purinergic receptor p2y G protein-coupled 12
  1269223003	Paraneoplastic uveitis
  721296004	Fuhrmann syndrome
  237933007	Transcobalamin I deficiency
  51500006	Complete trisomy 18 syndrome
  778001003	KCNQ2-related epileptic encephalopathy
  230552007	X-linked hereditary motor and sensory neuropathy
  237824009	Juvenile Graves' disease
  254959007	Thyrotroph adenoma
  723579009	Tangier disease
  766237006	Maternal uniparental disomy of chromosome 2
  717913006	Blepharonasofacial malformation syndrome
  773300008	Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
  41371000119100	Shone complex
  725289009	5-amino-4-imidazole carboxamide ribosiduria
  69478001	Pancreatic colipase deficiency
  773692000	Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome
  770407006	Chuvash erythrocytosis
  14333004	Alloimmune neonatal neutropenia
  716338001	Hoffman syndrome
  427791009	Congenital velopharyngeal incompetence
  72900001	Familial multiple polyposis syndrome
  68979007	Heavy chain disease
  238836000	Kindler's syndrome
  771264005	Absent radius, anogenital anomalies syndrome
  1268546006	Primary mucinous cystadenocarcinoma of pancreas
  90935002	Hemophilia
  718576001	Aase Smith type 1 syndrome
  62964007	Antley-Bixler syndrome
  254222002	Cutis laxa, recessive, type I
  782821004	Spondyloepimetaphyseal dysplasia Isidor type
  3978000	Warm autoimmune hemolytic anemia
  716196007	Isolated polycystic liver disease
  764452004	Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
  717771007	Cloverleaf skull with multiple congenital anomalies syndrome
  80281008	Cleft lip
  733451007	Congenital disorder of glycosylation type 1s
  778062008	Diffuse palmoplantar keratoderma with painful fissures
  52029003	Primary familial dilated cardiomyopathy
  240820001	Lymphatic filariasis
  1251499005	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
  764960005	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
  773426004	LMNA-related cardiocutaneous progeria syndrome
  724144006	Methimazole embryofetopathy
  722203001	Palmoplantar keratoderma with deafness syndrome
  699310000	22q13.3 deletion syndrome
  773299000	Maternal uniparental disomy of chromosome 16
  719266007	Progressive bifocal chorioretinal atrophy
  775909002	Congenital neutropenia, myelofibrosis, nephromegaly syndrome
  737312002	Primary malignant neuroendocrine neoplasm of jejunum
  715796006	Charcot-Marie-Tooth disease type 4A
  23817003	Levy-Hollister syndrome
  783256001	Familial thrombomodulin anomalies
  253172000	Agenesis of cerebellum
  725058003	Short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing syndrome
  715654001	Ischio-vertebral syndrome
  717041008	Syndromic recessive X-linked ichthyosis
  403391003	Secondary erythromelalgia
  203994003	Myelocystocele
  724139004	Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
  444944006	Deficiency of 2,4-dienoyl-CoA reductase
  86073008	Hypersomatotropic gigantism
  783243008	Adenohypophysitis
  1187119002	Hereditary pediatric Behçet-like disease
  719650004	20p12.3 microdeletion syndrome
  783198006	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
  23849003	Sandhoff disease
  44509000	Linear lichen planus
  717046003	Autosomal dominant hyperinsulinism due to SUR1 deficiency
  771337007	1q21.1 microduplication syndrome
  763720007	Hypermethioninemia due to deficiency of glycine N-methyltransferase
  717918002	Neuroendocrine tumor of middle ear
  703219008	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
  718220008	Hereditary breast and ovarian cancer syndrome
  68539005	Congenital bronchopulmonary foregut malformation
  400948003	Spasmus nutans
  715483009	Olivopontocerebellar atrophy and deafness
  204950001	Bilateral renal dysplasia
  81139004	Myospherulosis
  717262004	Isolated congenital alacrima
  716862002	Proteus like syndrome
  732954002	Osteopenia, intellectual disability, sparse hair syndrome
  237945003	Complete deficiency of methylmalonyl-CoA mutase
  771336003	Polymicrogyria with optic nerve hypoplasia
  763108005	Submucous cleft palate
  16964007	Hereditary persistence of fetal hemoglobin thalassemia
  697897003	Heritable pulmonary arterial hypertension
  77480004	Congenital biliary atresia
  764942005	Colobomatous microphthalmia, rhizomelic dysplasia syndrome
  723443003	Neutrophil immunodeficiency syndrome
  1179298002	Familial patent arterial duct
  763776004	KLHL9-related early-onset distal myopathy
  719980006	Charcot-Marie-Tooth disease type IF
  763893008	Multiple epiphyseal dysplasia with severe proximal femoral dysplasia
  203468000	Aneurysmal bone cyst
  230253001	Bulbospinal neuronopathy
  126945001	Perinatal anoxic-ischemic brain injury
  782691006	Maternal uniparental disomy of chromosome 21
  723408004	Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus
  723366001	Macrostomia, preauricular tag, external ophthalmoplegia syndrome
  396338004	Metachromatic leukodystrophy
  60826002	Coccidioidomycosis
  26336006	Tyrosinase-positive oculocutaneous albinism
  721161005	Esophageal duplication cyst
  271432005	Congenital renal artery stenosis
  703295003	Noninvoluting congenital hemangioma
  764855007	Acute myeloid leukemia with CEBPA somatic mutations
  297232009	3-Methylglutaconic aciduria type 3
  367524008	Hypoplasia of thyroid
  1268639006	Primary carcinosarcoma of cervix uteri
  773396009	Distal arthrogryposis type 5D
  68926002	Idiopathic arterial calcification of infancy
  1237179007	FG syndrome type 1
  723508002	RAS-associated autoimmune leukoproliferative disease
  1393001	Lenz-Majewski hyperostosis syndrome
  405288003	Intermittent maple syrup urine disease
  69339004	Bird-fanciers' lung
  405810005	Cogan's syndrome
  763279007	Facial dysmorphism, conductive hearing loss, heart defect syndrome
  766052008	Distal trisomy 19q
  764523004	Familial isolated trichomegaly
  254254006	Fetal toluene syndrome
  240084007	Congenital myopathy with fiber type disproportion
  36010004	Congenital cerebral meningocele
  254961003	Mixed-functioning pituitary adenoma
  58554001	Empyema of pleura
  716170005	Nathalie syndrome
  410058007	Histidinemia
  371089000	Serotonin syndrome
  719016007	X-linked intellectual disability Cantagrel type
  763368004	Familial progressive hyper and hypopigmentation
  784381008	Autosomal recessive cutis laxa type 2A
  270516002	Congenital macroglossia
  231944006	Labrador keratopathy
  782670003	Autosomal dominant spastic paraplegia type 3
  50967008	Gangliosidosis
  7826003	Mikulicz's disease
  773329005	CK syndrome
  725286002	3-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency
  763309005	Acute myeloid leukemia with NPM1 somatic mutation
  1264007008	Adenovirus infection in immunocompromised person
  719979008	Charcot-Marie-Tooth disease type ID
  724645006	T-cell histiocyte rich large B-cell lymphoma
  773989002	Late-onset isolated adrenocorticotropic hormone deficiency
  230255008	Madras-type motor neurone disease
  88905005	Sarcosporidiosis
  718106009	Hyperinsulinism and hyperammonemia syndrome
  782949007	Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
  766752000	Neurolymphomatosis
  1172698005	Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome
  715395008	Familial atrial fibrillation
  63122002	Hajdu-Cheney syndrome
  774204006	Growth retardation, mild developmental delay, chronic hepatitis syndrome
  95202004	Coloboma of eyelid
  398958000	Chondrodysplasia punctata, X-linked dominant type
  1197749008	CIDEC-related familial partial lipodystrophy
  1187191003	Autosomal recessive spastic paraplegia type 74
  95605009	HELLP syndrome
  720640005	Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome
  770901001	Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome
  1685005	Rat bite fever
  89138009	Cardiogenic shock
  446923008	Lipoprotein glomerulopathy
  51780007	Cerebro-costo-mandibular syndrome
  715983001	Ring chromosome 8 syndrome
  368851000119102	Complete androgen insensitivity syndrome
  460930004	Anomalous origin of left coronary artery from right coronary aortic sinus
  715464002	Seemanova Lesny syndrome
  75096007	Rickettsialpox
  400211001	Hereditary lymphedema and yellow nails
  238905009	Encephalocraniocutaneous lipomatosis
  716091000	Holoprosencephaly and postaxial polydactyly syndrome
  1268704000	Primary malignant mesothelioma of pleura
  724039002	Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
  254124008	Osteosclerosis - Stanescu type
  254179000	Epidermolysis bullosa simplex herpetiformis
  764521002	Encircling double aortic arch
  47535005	CHARGE syndrome
  253391007	Parachute malformation of tricuspid valve
  719515001	Autosomal dominant Charcot-Marie-Tooth disease type 2N
  766931003	Hypomyelination neuropathy arthrogryposis syndrome
  267607008	Familial periodic paralysis
  721834007	Hyperinsulinism due to uncoupling protein 2 deficiency
  400171002	Malignant atrophic papulosis
  109620006	Hereditary gingival fibromatosis
  44295002	Congenital coloboma of optic disc
  773726000	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
  58868000	Argentinian hemorrhagic fever
  725098001	Craniomicromelic syndrome
  765091006	Spinocerebellar ataxia with axonal neuropathy type 1
  1169359006	Tall stature, intellectual disability, renal anomalies syndrome
  770667002	Occult macular dystrophy
  702383005	Distal myopathy 2
  721878003	Microphthalmia with brain and digit anomaly
  718611007	Congenital pontocerebellar hypoplasia type 8
  1197586007	Short stature, advanced bone age, early-onset osteoarthritis syndrome
  707625001	Neuroendocrine neoplasm of larynx
  371197005	Congenital absence of foot
  763276000	Distal trisomy 7p syndrome
  238799002	Lymphangioma circumscriptum
  722107005	Ossification anomaly with psychomotor developmental delay syndrome
  721764008	Infection caused by Human poliovirus
  783621008	Immunodeficiency with factor I anomaly
  700057001	Emberger syndrome
  717963001	Isolated anterior cervical hypertrichosis
  784342008	Familial infantile myoclonic epilepsy
  71322004	Familial articular hypermobility syndrome
  719951002	Triphalangeal thumb with brachyectrodactyly syndrome
  719096006	Brittle cornea syndrome
  766046007	Acute myeloid leukemia and myelodysplastic syndrome related to topoisomerase type 2 inhibitor
  732949006	Autosomal dominant spastic paraplegia type 6
  774069007	PRKAR1B-related neurodegenerative dementia with intermediate filaments
  404053004	Alveolar rhabdomyosarcoma
  720565000	Bohring Opitz syndrome
  204508009	Choanal atresia
  721220004	Familial developmental dysphasia
  718192000	Non-amyloid fibrillary glomerulonephritis
  702449004	Nakajo-Nishimura syndrome
  1217383007	RELA fusion-positive supratentorial ependymoma
  699251001	Fibrous dysplasia of bone with intramuscular myxoma
  712922002	MYH9 related disease
  287085006	Genitourinary congenital anomalies
  723820001	Autosomal dominant spastic paraplegia type 4
  715820004	Lissencephaly with cerebellar hypoplasia type C
  57835009	Hepatic methionine adenosyltransferase deficiency
  783013001	Parana hard skin syndrome
  45369008	Neurohypophyseal diabetes insipidus
  763795006	Malan overgrowth syndrome
  783149002	Mosaic genome-wide paternal uniparental disomy
  778061001	Familial cervical artery dissection
  776087007	Autosomal recessive cerebral atrophy
  719267003	Progressive cavitating leukoencephalopathy
  770628008	Diffuse leptomeningeal melanocytosis
  129623003	Iridocorneal endothelial syndrome
  716023007	MacDermot Winter syndrome
  8849004	Galactose epimerase deficiency
  237950009	3-Methylglutaconic aciduria
  774205007	Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome
  702397002	Renal tubular dysgenesis
  1230023005	Benign intraocular medulloepithelioma
  717011006	Autosomal dominant Charcot-Marie-Tooth disease type 2D
  95609003	Neonatal lupus erythematosus
  1237349008	Hydrops, lactic acidosis, sideroblastic anaemia, multisystemic failure syndrome
  716774008	Hereditary keratoacanthoma
  860812002	Hereditary sensory autonomic neuropathy type IE
  722113001	Osteoporosis and oculocutaneous hypopigmentation syndrome
  764943000	Combined oxidative phosphorylation defect type 2
  719043002	VACTERL syndrome with hydrocephalus
  766937004	Hypertension due to gain-of-function mutation in mineralocorticoid receptor
  778070003	Autosomal dominant primary microcephaly
  765745007	Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
  10743271000119103	Immunoglobulin G4 related disease
  277807007	Curry-Hall syndrome
  1268538005	Primary clear cell adenocarcinoma of ovary
  79385002	Lowe syndrome
  10736081000119101	Congenital atresia of vagina
  38323006	Fetal warfarin syndrome
  770944002	Oculootodental syndrome
  95643007	Autoimmune encephalitis
  201000006	Annular lichen planus
  233947005	Chronic thromboembolic pulmonary hypertension
  1172691004	CLCN4-related X-linked intellectual disability syndrome
  718579008	X-linked endothelial corneal dystrophy
  232058008	Usher syndrome type 2
  1260142000	Congenital vertebral, cardiac, renal anomalies syndrome
  237250000	Partial hydatidiform mole
  763350002	Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome
  770643005	Mesial temporal lobe epilepsy with hippocampal sclerosis
  719255000	Spinocerebellar ataxia type 34
  1187004001	Chronic traumatic encephalopathy
  71961003	Childhood disintegrative disorder
  1230343006	Distal hereditary motor neuropathy type 2
  770794008	11p15.4 microduplication syndrome
  45503006	Common ventricle
  715861004	Dysplasia of head of femur Meyer type
  718847005	X-linked neurodegenerative syndrome Hamel type
  43248007	Penta X syndrome
  763837007	Oro-facial digital syndrome type 14
  764519007	Distal trisomy 3p
  426336007	Solitary osseous myeloma
  723621000	Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
  87827003	Isovaleryl-CoA dehydrogenase deficiency
  1229872004	Xq25 microduplication syndrome
  238640007	Acrokeratosis paraneoplastica of Bazex
  770431001	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
  122711000119109	Hypnic headache
  24326000	Metachromatic leukodystrophy, adult type
  719826004	X-linked intellectual disability with acromegaly and hyperactivity syndrome
  721228006	Huntington disease-like 2
  109476006	Amelogenesis imperfecta, hypoplastic type
  715634002	Florid cemento-osseous dysplasia
  734349003	Alpha-thalassemia intellectual disability syndrome linked to chromosome 16
  3928002	Zika virus disease
  1254651003	Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome
  721165001	Variably protease sensitive prionopathy
  29145002	Schwartz-Jampel syndrome
  719576009	16p11.2p12.2 microdeletion syndrome
  733598001	Acute myeloid leukemia with t(6;9)(p23;q34) translocation
  770624005	Benign partial epilepsy of infancy with complex partial seizures
  726672000	Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome
  725910009	Congenital duplication of rectum
  49434001	Jamaican vomiting sickness
  763815000	Oculoauricular syndrome Schorderet type
  765197008	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier
  1284855000	Serine biosynthesis pathway deficiency, infantile/juvenile form
  733418003	Joubert syndrome with Jeune asphyxiating thoracic dystrophy
  764459008	Distal trisomy 16q
  448794008	Double outlet right ventricle with subpulmonary ventricular septal defect
  1279842008	Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial JAK1 deficiency
  715769008	Congenital abnormal retraction of eyelid
  783617001	Severe combined immunodeficiency due to LCK deficiency
  720459002	Hypercortisolism due to macronodular adrenal hyperplasia
  1179285006	Combined immunodeficiency due to moesin deficiency
  717768004	Alport syndrome X-linked
  1208341008	Severe oculo-renal-cerebellar syndrome
  723410002	N syndrome
  773276004	Ehlers-Danlos syndrome spondylocheirodysplastic type
  715626008	Tropical endomyocardial fibrosis
  28055006	West syndrome
  778028008	Immunodeficiency due to CD25 deficiency
  715984007	Boucher Neuhäuser syndrome
  773581009	Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome
  719013004	X-linked intellectual disability Cilliers type
  71111008	Glaucoma of childhood
  190859005	Hypophosphatasia
  718716008	Autoimmune hemolytic anemia mixed type
  723409007	Multinodular goiter, cystic kidney, polydactyly syndrome
  699190008	Paroxysmal extreme pain disorder
  83157008	Fatal familial insomnia
  78586005	Gamma-glutamyl transpeptidase deficiency
  1172634009	Autosomal dominant Charcot-Marie-Tooth disease type 2W
  716191002	Perniola Krajewska Carnevale syndrome
  718633009	Acral self-healing collodion baby
  768934004	Intraneural perineurioma
  314429009	Intermediate uveitis
  721083007	Lymphedema hypoparathyroidism syndrome
  232063007	Familial exudative vitreoretinopathy
  734015000	Clear cell papillary renal cell carcinoma
  721146009	Intellectual disability, epilepsy, bulbous nose syndrome
  785824001	Neuroendocrine neoplasm of gallbladder
  128203003	Hereditary motor and sensory neuropathy with optic atrophy
  725420009	Congenital muscular dystrophy Paradas type
  7731005	Autosomal dominant hypohidrotic ectodermal dysplasia syndrome
  389169005	Brachydactyly syndrome type C
  205548006	Harlequin ichthyosis
  703542000	Retinal detachment and occipital encephalocele
  717336005	Autosomal dominant optic atrophy classic form
  1268532006	Primary carcinoma of ampulla of Vater
  1229998009	Combined hamartoma of retina and retinal pigment epithelium
  253936008	Hypoplasia of thumb
  62268000	HNSHA due to diphosphoglycerate mutase deficiency
  1260096003	AIDS (acquired immunodeficiency syndrome) wasting syndrome
  768929003	Trisomy 8p syndrome
  247204001	Morning glory disc
  124511000	Deficiency of beta-ureidopropionase
  783139000	Progressive myoclonic epilepsy type 8
  724016008	Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome
  773673002	Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome
  1230318000	Serous carcinoma of body of uterus
  1264194006	Congenital amyoplasia
  725587007	Carbohydrate deficient glycoprotein syndrome type 2d
  1217380005	HELIX syndrome
  1208344000	Fryns Smeets Thiry syndrome
  771445001	Autosomal recessive infantile hypercalcemia
  1281842000	GNAO1-related developmental delay, seizures, movement disorder spectrum
  699301008	Multiple venous malformation of skin and mucous membrane
  717942003	Brain dopamine-serotonin vesicular transport disease
  783255002	Hereditary isolated aplastic anemia
  54898003	Multiple sulfatase deficiency
  773326003	7q31 microdeletion syndrome
  232057003	Usher syndrome type 1
  238733003	Erosive pustular dermatosis of the scalp
  782756008	Familial episodic pain syndrome
  449730005	Autoimmune polyendocrine syndrome type 4
  724648008	Plasmablastic lymphoma
  725287006	Retinoid embryopathy
  235956004	Familial chronic pancreatitis
  707756004	Gitelman syndrome
  703544004	Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
  26460006	Slipped upper femoral epiphysis
  191256002	Idiopathic aplastic anemia
  230325003	Meige syndrome
  403545005	Port-wine stain with oculocutaneous melanosis
  111289009	Arteriovenous fistula of pulmonary vessels
  1187462006	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
  725079003	Congenital disorder of glycosylation type 1j
  783200000	Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
  763475004	White fibrous papulosis of neck
  277654008	Enteropathy-associated T-cell lymphoma
  733093004	Banki syndrome
  774203000	Intellectual disability, severe speech delay, mild dysmorphism syndrome
  726727003	X-linked intellectual disability Hedera type
  367489004	Infantile malignant osteopetrosis
  459063003	Congenital disorder of glycosylation type Ia
  1003374009	Microlissencephaly
  765141005	Progressive nodular histiocytosis
  771517009	Severe combined immunodeficiency due to CARD11 deficiency
  725045004	46,XY partial gonadal dysgenesis
  734019006	Chronic diarrhea with villous atrophy syndrome
  76744005	Longitudinal deficiency of fibula
  393564001	Glioma
  709281006	Rippling muscle disease
  1217371005	Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome
  10406007	Lesch-Nyhan syndrome
  725295005	Familial male-limited precocious puberty
  719578005	16p13.11 microduplication syndrome
  699420006	Hemifacial myohyperplasia
  254016000	Infraorbital facial cleft - Tessier cleft 4
  726707004	7q11.23 microduplication syndrome
  1255271005	Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome
  720955004	Fine Lubinsky syndrome
  414166008	Extranodal NK/T-cell lymphoma, nasal type
  722454003	Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome
  253902002	Atresia of urethra
  723827003	Grant syndrome
  703294004	Rapidly involuting congenital hemangioma
  776204008	Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
  719155005	X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome
  231858009	Gonococcal conjunctivitis
  700467001	Reversible cerebral vasoconstriction syndrome
  771478008	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  1197753005	COG2-related congenital disorder of glycosylation
  719045009	Orbital leiomyoma
  782679002	Familial congenital palsy of trochlear nerve
  1141661004	Neurocutaneous melanosis
  1208998007	TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
  763767006	Erythema palmare hereditarium
  23096007	Cranial neuralgia
  718606005	Congenital pontocerebellar hypoplasia type 6
  1196860000	Primary anaplastic large cell medulloblastoma of brain
  253212001	Epiblepharon
  28835009	Retinitis pigmentosa
  254116003	Geroderma osteodysplastica
  278991002	Sialic storage disease
  253166000	Lateral meningocele
  1220589007	Keppen Lubinsky syndrome
  784340000	Combined immunodeficiency due to interleukin 21 receptor deficiency
  718608006	Congenital pontocerebellar hypoplasia type 4
  64383006	Werdnig-Hoffmann disease
  74911008	Dyskeratosis congenita
  733066002	Trigonocephaly, short stature, developmental delay syndrome
  87074006	Salla disease
  1268563005	Primary acinar cell carcinoma of pancreas
  720637005	Charcot-Marie-Tooth disease type 2H
  1217230002	Cerebellar ataxia with oculomotor apraxia type 4
  722849002	Cryptogenic multifocal ulcerous stenosing enteritis
  726083008	Kousseff syndrome
  715866009	Attenuated familial adenomatous polyposis
  770719004	3q27.3 microdeletion syndrome
  717048002	Hyperinsulinism due to HNF4A deficiency
  400130008	Temporal arteritis
  275598004	Hyperlipoproteinemia, type I
  785305006	Autosomal dominant spastic paraplegia type 8
  31996006	Vasculitis
  715576000	Ectodermal dysplasia with natal teeth Turnpenny type
  699869003	Interleukin-1 receptor-associated kinase 4 deficiency
  766251006	Lethal infantile mitochondrial myopathy
  66783006	Popliteal pterygium syndrome
  254067002	Immuno-osseous dysplasia
  720576001	Brain calcification Rajab type
  721088003	DEND syndrome
  782780007	Marfanoid habitus, inguinal hernia, advanced bone age syndrome
  724228005	Infantile choroidocerebral calcification syndrome
  782909004	Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
  626004	Hypercortisolism due to nonpituitary tumor
  126965008	Neoplasm of meninges
  239087008	Cantu's syndrome
  10736002	Isolated thyroliberin deficiency
  298285004	Systemic sclerosis with limited cutaneous involvement
  417044008	Hydatidiform mole, benign
  765136002	Primary cutaneous CD8 positive aggressive epidermotropic cytotoxic T-cell lymphoma
  254180002	Epidermolysis bullosa simplex with mottled pigmentation
  721835008	Acrofrontofacionasal dysostosis type 2
  237608006	Lipodystrophy, partial, with Rieger anomaly, short stature, and insulinopenic diabetes mellitus
  14070001000004105	Harlequin syndrome
  398530003	Wound botulism
  773733000	Humeroradioulnar synostosis
  62377009	Postpartum cardiomyopathy
  763315005	Congenital myopathy with myasthenic-like onset
  80138003	Isaacs syndrome
  1208348002	Microcephalic osteodysplastic primordial dwarfism type II
  1268391003	Primary undifferentiated carcinoma of liver and intrahepatic biliary tract
  718769009	Spinocerebellar ataxia type 26
  79468000	Familial benign pemphigus
  37770007	Melkersson's syndrome
  1222644009	Autosomal dominant mitochondrial myopathy with exercise intolerance
  56852002	Achromatopsia
  10170007	Black locks, oculocutaneous albinism, AND deafness of the sensorineural type
  766761000	X-linked cleft palate and ankyloglossia
  716111003	Mullerian duct and limb anomalies syndrome
  771471002	Optic nerve edema, splenomegaly syndrome
  254177003	Epidermolysis bullosa simplex with hypodontia
  1268519001	Primary neuroblastoma
  1172844009	Combined oxidative phosphorylation defect type 27
  715825009	Spinocerebellar ataxia type 29
  763686007	Curly hair, acral keratoderma, caries syndrome
  722285005	Albinism with deafness syndrome
  733425005	Acrocephalopolysyndactyly type IV
  312929003	Acute zonal occult outer retinopathy
  1169364005	LRP5-related primary osteoporosis
  1237418002	Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
  253402005	Double orifice of mitral valve
  763748007	Isolated congenital adermatoglyphia
  765206003	Constriction ring syndrome
  717257000	Nodular lichen myxedematosus
  716249009	Tetraamelia with multiple malformation syndrome
  402355000	Acute graft-versus-host disease
  1230026002	Lethal acantholytic erosive disorder
  718681002	Oro-facial digital syndrome type 11
  232333009	Hearing loss associated with syndrome
  15244003	Neuroleptic malignant syndrome
  716704007	Primary localized cutaneous nodular amyloidosis
  425756000	Idiopathic transverse myelitis
  734030009	12q15q21.1 microdeletion syndrome
  55379003	Congenital pseudoarthrosis of tibia
  1269412004	Primary medulloepithelioma of central nervous system
  1187564009	Autosomal dominant Charcot-Marie-Tooth disease type 2Z
  1229988003	Myeloid and/or lymphoid neoplasm with PCM1-JAK2
  773729007	X-linked myopathy with postural muscle atrophy
  234589002	Glutathione synthetase deficiency
  719513008	Autosomal dominant Charcot-Marie-Tooth disease type 2L
  1255322002	Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
  718573009	Achalasia microcephaly syndrome
  732956000	Brachydactyly and distal symphalangism syndrome
  66729008	Hemoglobin D disease
  733092009	Microcephalus, hypergonadotropic hypogonadism, short stature syndrome
  721075001	Short tarsus with absence of lower eyelashes syndrome
  763348005	Autosomal recessive cerebellar ataxia with late-onset spasticity
  1172624000	RERE-related neurodevelopmental syndrome
  764621006	Mosaic trisomy 16 syndrome
  715802008	Charcot-Marie-Tooth disease type 4H
  41142009	Globoid cell leukodystrophy, late-onset
  7425008	Hereditary coproporphyria
  23502006	Lyme disease
  766716004	Monosomy 13q34 syndrome
  1187466009	Autosomal dominant spastic paraplegia type 9B
  773303005	Spondyloepimetaphyseal dysplasia Genevieve type
  254678009	Proliferating pilar cyst
  191347008	Cyclical neutropenia
  6452009	Colorado tick fever
  204153003	Irido-corneo-trabecular dysgenesis
  773648002	Congenital cataract, hearing loss, severe developmental delay syndrome
  38837006	Acquired porencephaly
  719300001	Spinocerebellar ataxia type 35
  737579002	Congenital coloboma of macula lutea
  2593002	Dubowitz's syndrome
  1279840000	Spinocerebellar ataxia type 45
  773279006	Postaxial polydactyly, dental, vertebral anomalies syndrome
  444707001	Glycogen storage disease type Ia
  764460003	Spondyloepimetaphyseal dysplasia anauxetic type
  353821005	Idiopathic gastroparesis
  111499002	Déjérine-Sottas disease
  724227000	Infantile onset spinocerebellar ataxia
  766756002	Subaortic course of innominate vein
  83714006	Congenital microgastria
  715341003	Autosomal recessive limb girdle muscular dystrophy type 2A
  724277002	Congenital ichthyosis with hypotrichosis syndrome
  763802009	Micturition induced epilepsy
  717945001	BRESEK syndrome
  415112005	Plasmacytoma
  784339002	Deficiency of interleukin 36 receptor antagonist
  703541007	Legius syndrome
  389161008	Sponastrime dysplasia
  721976003	Lung agenesis with heart defect and thumb anomaly syndrome
  111488004	Kleine-Levin syndrome
  1229891004	20q11.2 microdeletion syndrome
  389199001	Cole-Carpenter dysplasia
  764461004	Mosaic trisomy 10 syndrome
  770594005	Retinal macular dystrophy type 2
  721010003	Heart-hand syndrome type 2
  205484001	Short rib polydactyly syndrome
  74578003	Pyoderma gangrenosum
  721232000	Hydrolethalus syndrome
  724555000	Puberty disorder due to estrogen resistance
  1268488004	Primary carcinoma of stomach due to Epstein-Barr virus disease
  771239007	Hidrotic ectodermal dysplasia Christianson Fourie type
  237939006	Non-ketotic hyperglycinemia
  715412008	Familial prostate cancer
  771342004	Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome
  609329007	Catastrophic antiphospholipid syndrome
  720826006	Czech dysplasia metatarsal type
  18620009	Congenital sequestration of lung
  782721009	Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUBCN deficiency
  254774003	Cobb's syndrome
  39905002	Scimitar syndrome
  124466001	Deficiency of alpha-mannosidase
  8549006	Desquamative interstitial pneumonia
  724095006	Myopathy due to calsequestrin and SERCA1 protein overload
  707594002	Neuroendocrine neoplasm of lung
  715770009	Acute motor axonal neuropathy
  763346009	Lethal congenital contracture syndrome type 5
  717859007	Beemer Ertbruggen syndrome
  88877002	Xeroderma pigmentosum, variant form
  230261006	Complicated hereditary spastic paraplegia
  1197365006	Familial cavitary optic disc anomaly
  226309007	Familial renal glucosuria
  1187210007	Intellectual disability, epilepsy, extrapyramidal syndrome
  1228876007	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  42295001	Familial amyloid polyneuropathy
  718226002	Wolf Hirschhorn syndrome
  232049001	Adult vitelliform macular dystrophy
  236478009	Familial renal hypouricemia
  773548008	Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
  408335007	Autoimmune hepatitis
  69278003	Congenital aniridia
  724361001	Hepatic veno-occlusive disease with immunodeficiency syndrome
  721148005	Hip dysplasia Beukes type
  771303004	Severe neonatal onset encephalopathy with microcephaly
  232065000	Goldmann-Favre syndrome
  733519008	17q12 microdeletion syndrome
  782759001	X-linked dyserythropoietic anemia with abnormal platelets and neutropenia
  723556008	Thoracolaryngopelvic dysplasia
  720952001	Fibular aplasia and ectrodactyly syndrome
  233908008	Incessant infant ventricular tachycardia
  716099003	Absence deformity of leg and congenital cataract syndrome
  230288001	Semantic dementia
  1230272009	Congenital hypothyroidism due to thyroid stimulating hormone receptor mutation
  9634000	Congenital dislocation of radial head
  763722004	Hypotonia, speech impairment, severe cognitive delay syndrome
  715218009	Neonatal severe primary hyperparathyroidism
  237619009	Diabetes-deafness syndrome maternally transmitted
  783195009	Benign epithelial tumor of salivary gland
  762690000	Classical Hodgkin lymphoma
  723822009	Autosomal recessive spastic paraplegia type 46
  254055004	Atelosteogenesis type 2
  1268561007	Primary serous cystadenocarcinoma of pancreas
  716105001	Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type
  770726004	Female infertility due to zona pellucida defect
  724068001	Pericardial and diaphragmatic defect syndrome
  778011005	Severe intellectual disability and progressive spastic paraplegia
  111395007	Nephrogenic diabetes insipidus
  1269236003	Primary hypomagnesemia, refractory seizures, intellectual disability syndrome
  765195000	Familial generalized lentiginosis
  726609005	Autosomal recessive spastic paraplegia type 64
  763885008	Spondyloepimetaphyseal dysplasia Handigodu type
  13370002	Plantar fascial fibromatosis
  765327005	Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome
  717911008	Blepharocheilodontic syndrome
  722760002	Dense deposit disease
  89647000	Pyknodysostosis
  722020006	Juvenile temporal arteritis
  715952000	Waardenburg Shah syndrome
  61071003	Proline dehydrogenase deficiency
  235828008	Chronic intestinal pseudo-obstruction
  27742002	VATER association
  778029000	FASTKD2-related infantile mitochondrial encephalomyopathy
  1926006	Osteopetrosis
  717269008	Obesity due to melanocortin 4 receptor deficiency
  9660004	Congenital stenosis of trachea
  734434007	Pyridoxine-dependent epilepsy
  703234002	Familial hyperaldosteronism type 3
  763861000	Pachygyria, intellectual disability, epilepsy syndrome
  720567008	Bosley Salih Alorainy syndrome
  717183001	Keratoderma hereditarium mutilans with ichthyosis syndrome
  1162808000	Familial calcium pyrophosphate dihydrate crystal deposition disease
  717792007	Pseudohypoparathyroidism type 1C
  271425001	Scrub typhus
  723442008	Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome
  733046006	Hemifacial hyperplasia strabismus syndrome
  715963002	Atrichia with papular lesions
  10394003	Friedreich ataxia
  715337002	Congenital infection caused by Herpes virus
  715369006	Autosomal recessive cerebelloparenchymal disorder type 3
  764437006	Liebenberg syndrome
  718632004	Self-healing collodion baby
  55464009	Systemic lupus erythematosus
  1237345002	46,XX ovarian dysgenesis, short stature syndrome
  1217381009	Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome
  55475008	Lown-Ganong-Levine syndrome
  41797007	5,10-Methylenetetrahydrofolate reductase deficiency
  717047007	Bile acid CoA ligase deficiency and defective amidation
  699700006	Median cleft lip and cleft of alveolar process of maxilla
  771266007	Torticollis, keloids, cryptorchidism, renal dysplasia syndrome
  75968004	Sotos' syndrome
  190786004	Hypo-beta-lipoproteinemia
  1268959008	Primary primitive neuroectodermal tumor of cervix uteri
  429735007	Citrin deficiency
  765212008	Balint syndrome
  719800009	DOORS syndrome
  719208005	Spinocerebellar ataxia type 12
  124680001	Deficiency of methylmalonyl-CoA mutase
  1173997008	Pontine autosomal dominant microangiopathy with leukoencephalopathy
  765045003	Autosomal recessive spastic paraplegia type 62
  54569005	Bernard Soulier syndrome
  773400009	Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome
  88469006	Zellweger syndrome
  400962005	Congenital miosis
  1208477000	Confetti-like atrophic macular lesions of skin
  16567006	Mesocardia
  776416004	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome
  398937006	Cold autoimmune hemolytic anemia
  763458005	X-linked Charcot-Marie-Tooth disease type 3
  1255116001	Myopathic Ehlers-Danlos syndrome
  373093003	Coronary artery fistula
  715559004	Combined deficiency of factor V and factor VIII
  61777009	Thalassemia-hemoglobin C disease
  783768006	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
  400952003	Ankyloblepharon filiforme adnatum
  716381003	8p23.1 microdeletion syndrome
  109472008	Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism
  723992000	Kufor Rakeb syndrome
  719823007	Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome
  732247000	Cleft lip retinopathy syndrome
  765047006	SURF1-related Charcot-Marie-Tooth disease type 4
  717813005	Global developmental delay, osteopenia, ectodermal defect syndrome
  774071007	Pancytopenia with developmental delay syndrome
  720512007	Arterial dissection and lentiginosis syndrome
  724356003	Hereditary combined deficiency of vitamin K-dependent clotting factors
  718911005	X-linked intellectual disability Stoll type
  111196000	Dermatitis herpetiformis
  1259744002	Primary glioblastoma multiforme of central nervous system
  717228004	Hereditary palmoplantar keratoderma Gamborg Nielsen type
  427167008	Hereditary angioedema with normal C1 esterase inhibitor activity
  770939009	Huntington disease-like 3
  723405001	Microlissencephaly micromelia syndrome
  1237365009	Aprosencephaly/atelencephaly spectrum
  255039001	Pancreatic polypeptidoma
  703336003	Arteriovenous malformation of frontonasal process
  1268533001	Primary Ewing sarcoma of bone
  360943000	Deficiency of carnosinase
  415297005	Retinopathy of prematurity
  236380004	Steroid-sensitive nephrotic syndrome
  1258972007	Baraitser Winter cerebrofrontofacial syndrome
  773647007	Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome
  1208932005	Toxic maculopathy of bilateral eyes caused by antimalarial drug
  1186735007	Mixed neuroendocrine-non neuroendocrine neoplasm of pancreas
  711286009	Intermittent effusion of joint
  127295002	Traumatic brain injury
  9527009	Tetrasomy 12p syndrome
  782774004	Atypical Meigs syndrome
  726629006	Scalp defect postaxial polydactyly syndrome
  43941006	Pseudohypoaldosteronism, type 1
  230652001	Benign fasciculation-cramp syndrome
  711163009	Bradyopsia
  70737009	Mucopolysaccharidosis, MPS-II
  707551007	Pulmonary interstitial glycogenosis
  723362004	Hereditary hypotrichosis simplex
  403779009	Ichthyosis, cerebellar degeneration and hepatosplenomegaly
  6111009	Bullous lichen planus
  718222000	Autosomal dominant popliteal pterygium syndrome
  7689009	Reading seizure
  238835001	Hereditary acrokeratotic poikiloderma of Weary
  1259819000	Primary anaplastic ganglioglioma of central nervous system
  419039007	Granular corneal dystrophy type I
  726709001	Intellectual disability, cataract, calcified pinna, myopathy syndrome
  1220573009	Primary dystonia DYT27 type