Human Phenotype Ontology 
Grandparent Node:
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Abnormality of body weight (HP:0004323)help
Parent Node:
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Decreased body weight (HP:0004325)help
..Starting node
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Failure to thrive (HP:0001508)help
Term ID: 1508
Name: Failure to thrive
Synonym: Faltering weight; Poor weight gain; Postnatal failure to thrive; Undergrowth; Weight faltering
Definition: Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Comments:
Reference: HP:0001508
Genes and Diseases:
 
       Child Nodes:
........expandSevere failure to thrive (HP:0001525) help
........expandFailure to thrive in infancy (HP:0001531) help

 Sister Nodes: 
..expandDecreased body mass index (HP:0045082) help
..expandEunuchoid habitus (HP:0003782) help
..expandSlender build (HP:0001533) help
..expandSmall for gestational age (HP:0001518) help
..expandWeight loss (HP:0001824) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001508HP:0001508Failure to thrive0AARS1 CL E G H1620OMIM:616339Epileptic encephalopathy, early infantile, 29.
HP:0001508HP:0001508Failure to thrive0AARS1 CL E G H1620ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0AARS2 CL E G H5750521022OMIM:614096Combined oxidative phosphorylation deficiency 8.143
HP:0001508HP:0001508Failure to thrive0AASS CL E G H1015717366ORPHA:2203HyperlysinemiaHP:0040283 - Occasional15
HP:0001508HP:0001508Failure to thrive0ABCA12 CL E G H2615414637ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent130
HP:0001508HP:0001508Failure to thrive0ABCA3 CL E G H2133OMIM:610921Surfactant metabolism dysfunction, pulmonary, 3.147
HP:0001508HP:0001508Failure to thrive0ABCB11 CL E G H864742OMIM:601847Cholestasis, progressive familial intrahepatic 2.146
HP:0001508HP:0001508Failure to thrive0ABCC6 CL E G H36857ORPHA:51608Generalized arterial calcification of infancy415
HP:0001508HP:0001508Failure to thrive0ABCC8 CL E G H683359ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040281 - Very frequent245
HP:0001508HP:0001508Failure to thrive0ABCC8 CL E G H683359ORPHA:99886Transient neonatal diabetes mellitusHP:0040283 - Occasional245
HP:0001508HP:0001508Failure to thrive0ABCD1 CL E G H21561ORPHA:388Hirschsprung disease135
HP:0001508HP:0001508Failure to thrive0ABCD4 CL E G H582668OMIM:614857Methylmalonic aciduria and homocystinuria, Cblj type53
HP:0001508HP:0001508Failure to thrive0ABL1 CL E G H2576OMIM:617602Congenital heart defects and skeletal malformations syndrome.51
HP:0001508HP:0001508Failure to thrive0ACAD9 CL E G H2897621497ORPHA:99901Acyl-CoA dehydrogenase 9 deficiencyHP:0040282 - Frequent98
HP:0001508HP:0001508Failure to thrive0ACADS CL E G H3590OMIM:201470Acyl-Coa dehydrogenase, short-chain, deficiency of.90
HP:0001508HP:0001508Failure to thrive0ACADS CL E G H3590ORPHA:26792Short chain acyl-CoA dehydrogenase deficiencyHP:0040282 - Frequent90
HP:0001508HP:0001508Failure to thrive0ACD CL E G H6505725070ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040281 - Very frequent11
HP:0001508HP:0001508Failure to thrive0ACO2 CL E G H50118OMIM:614559INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD60
HP:0001508HP:0001508Failure to thrive0ACOX1 CL E G H51119ORPHA:2971Peroxisomal acyl-CoA oxidase deficiencyHP:0040282 - Frequent120
HP:0001508HP:0001508Failure to thrive0ACSF3 CL E G H19732227288ORPHA:289504Combined malonic and methylmalonic acidemiaHP:0040283 - Occasional68
HP:0001508HP:0001508Failure to thrive0ACSF3 CL E G H19732227288OMIM:614265Combined malonic and methylmalonic aciduria.68
HP:0001508HP:0001508Failure to thrive0ACTA1 CL E G H58129ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent96
HP:0001508HP:0001508Failure to thrive0ACTA1 CL E G H58129OMIM:255310Myopathy, congenital, with fiber-type disproportion.96
HP:0001508HP:0001508Failure to thrive0ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040281 - Very frequent72
HP:0001508HP:0001508Failure to thrive0ACTB CL E G H60132OMIM:243310Baraitser-Winter syndrome 1.72
HP:0001508HP:0001508Failure to thrive0ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040281 - Very frequent123
HP:0001508HP:0001508Failure to thrive0ACTL6B CL E G H51412160ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent2
HP:0001508HP:0001508Failure to thrive0ACVR1 CL E G H90171ORPHA:337Fibrodysplasia ossificans progressivaHP:0040283 - Occasional49
HP:0001508HP:0001508Failure to thrive0ADA CL E G H100186ORPHA:39041Omenn syndromeHP:0040281 - Very frequent75
HP:0001508HP:0001508Failure to thrive0ADA CL E G H100186ORPHA:277Severe combined immunodeficiency due to adenosine deaminase deficiencyHP:0040282 - Frequent75
HP:0001508HP:0001508Failure to thrive0ADA CL E G H100186OMIM:102700Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency.75
HP:0001508HP:0001508Failure to thrive0ADAM17 CL E G H6868195OMIM:614328INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD12
HP:0001508HP:0001508Failure to thrive0ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent116
HP:0001508HP:0001508Failure to thrive0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndromeHP:0040281 - Very frequent9
HP:0001508HP:0001508Failure to thrive0ADAT3 CL E G H11317925151OMIM:615286Mental retardation, autosomal recessive 36.9
HP:0001508HP:0001508Failure to thrive0ADCY5 CL E G H111236OMIM:619651NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD25
HP:0001508HP:0001508Failure to thrive0ADH5 CL E G H128253OMIM:619151AMED SYNDROME, DIGENIC; AMEDS
HP:0001508HP:0001508Failure to thrive0ADK CL E G H132257OMIM:614300Hypermethioninemia due to adenosine kinase deficiency.26
HP:0001508HP:0001508Failure to thrive0AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0001508HP:0001508Failure to thrive0AGPAT2 CL E G H10555325ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional85
HP:0001508HP:0001508Failure to thrive0AGPS CL E G H8540327OMIM:600121Rhizomelic chondrodysplasia punctata, type 3.117
HP:0001508HP:0001508Failure to thrive0AGTPBP1 CL E G H2328717258OMIM:618276Neurodegeneration, childhood-onset, with cerebellar atrophy.1
HP:0001508HP:0001508Failure to thrive0AGTPBP1 CL E G H2328717258ORPHA:2254Pontocerebellar hypoplasia type 11
HP:0001508HP:0001508Failure to thrive0AGXT CL E G H189341ORPHA:93598Primary hyperoxaluria type 1HP:0040282 - Frequent260
HP:0001508HP:0001508Failure to thrive0AHCY CL E G H191343OMIM:613752HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY.31
HP:0001508HP:0001508Failure to thrive0AHCY CL E G H191343ORPHA:88618S-adenosylhomocysteine hydrolase deficiencyHP:0040282 - Frequent31
HP:0001508HP:0001508Failure to thrive0AHDC1 CL E G H2724525230ORPHA:412069AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndromeHP:0040282 - Frequent36
HP:0001508HP:0001508Failure to thrive0AHDC1 CL E G H2724525230OMIM:615829Xia-Gibbs syndrome.36
HP:0001508HP:0001508Failure to thrive0AIMP1 CL E G H925510648OMIM:260600Leukodystrophy, hypomyelinating, 3.4
HP:0001508HP:0001508Failure to thrive0AK2 CL E G H204362ORPHA:33355Reticular dysgenesisHP:0040282 - Frequent19
HP:0001508HP:0001508Failure to thrive0AKR1D1 CL E G H6718388OMIM:235555Bile acid synthesis defect, congenital, 2.62
HP:0001508HP:0001508Failure to thrive0AKR1D1 CL E G H6718388ORPHA:79303Congenital bile acid synthesis defect type 262
HP:0001508HP:0001508Failure to thrive0AKT1 CL E G H207391ORPHA:201Cowden syndromeHP:0040283 - Occasional54
HP:0001508HP:0001508Failure to thrive0ALAD CL E G H210395OMIM:612740Porphyria, acute hepatic.62
HP:0001508HP:0001508Failure to thrive0ALDH18A1 CL E G H58329722OMIM:219150Cutis laxa, autosomal recessive, type IIIA.89
HP:0001508HP:0001508Failure to thrive0ALDOB CL E G H229417OMIM:229600Fructose intolerance, hereditary.73
HP:0001508HP:0001508Failure to thrive0ALG11 CL E G H44013832456ORPHA:280071ALG11-CDGHP:0040283 - Occasional41
HP:0001508HP:0001508Failure to thrive0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040282 - Frequent68
HP:0001508HP:0001508Failure to thrive0ALG12 CL E G H7908719358OMIM:607143Congenital disorder of glycosylation, type Ig68
HP:0001508HP:0001508Failure to thrive0ALG3 CL E G H1019523056OMIM:601110Congenital disorder of glycosylation, type Id.37
HP:0001508HP:0001508Failure to thrive0ALG6 CL E G H2992923157ORPHA:79320ALG6-CDGHP:0040282 - Frequent66
HP:0001508HP:0001508Failure to thrive0ALG8 CL E G H7905323161ORPHA:79325ALG8-CDGHP:0040283 - Occasional46
HP:0001508HP:0001508Failure to thrive0ALG8 CL E G H7905323161OMIM:608104Congenital disorder of glycosylation, type Ih.46
HP:0001508HP:0001508Failure to thrive0ALG9 CL E G H7979615672OMIM:608776Congenital disorder of glycosylation, type Il93
HP:0001508HP:0001508Failure to thrive0ALOX12B CL E G H242430ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent75
HP:0001508HP:0001508Failure to thrive0ALOXE3 CL E G H5934413743ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent63
HP:0001508HP:0001508Failure to thrive0ALPL CL E G H249438OMIM:241500Hypophosphatasia, infantile.126
HP:0001508HP:0001508Failure to thrive0AMACR CL E G H23600451OMIM:214950Bile acid synthesis defect, congenital, 4.44
HP:0001508HP:0001508Failure to thrive0AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis.34
HP:0001508HP:0001508Failure to thrive0AMN CL E G H8169314604ORPHA:35858Imerslund-Gräsbeck syndromeHP:0040283 - Occasional25
HP:0001508HP:0001508Failure to thrive0ANKRD55 CL E G H7972225681ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0ANO1 CL E G H5510721625OMIM:620045
HP:0001508HP:0001508Failure to thrive0ANTXR2 CL E G H11842921732OMIM:228600Hyaline fibromatosis syndrome49
HP:0001508HP:0001508Failure to thrive0ANTXR2 CL E G H11842921732ORPHA:2176Infantile systemic hyalinosisHP:0040281 - Very frequent49
HP:0001508HP:0001508Failure to thrive0AP1B1 CL E G H162554OMIM:242150Ichthyosiform erythroderma, corneal involvement, and deafness.
HP:0001508HP:0001508Failure to thrive0AP3B2 CL E G H8120567ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent7
HP:0001508HP:0001508Failure to thrive0AQP2 CL E G H359634OMIM:125800Diabetes insipidus, nephrogenic, 275
HP:0001508HP:0001508Failure to thrive0AQP2 CL E G H359634ORPHA:223Nephrogenic diabetes insipidusHP:0040282 - Frequent75
HP:0001508HP:0001508Failure to thrive0ARCN1 CL E G H372649OMIM:617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay.3
HP:0001508HP:0001508Failure to thrive0ARFGEF2 CL E G H1056415853OMIM:608097Periventricular heterotopia with microcephaly, autosomal recessiveHP:0040283 - Occasional179
HP:0001508HP:0001508Failure to thrive0ARHGAP31 CL E G H5751429216ORPHA:974Adams-Oliver syndromeHP:0040281 - Very frequent147
HP:0001508HP:0001508Failure to thrive0ARID1B CL E G H5749218040ORPHA:2510566q25 microdeletion syndromeHP:0040282 - Frequent219
HP:0001508HP:0001508Failure to thrive0ARPC1B CL E G H10095704OMIM:617718Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease.
HP:0001508HP:0001508Failure to thrive0ARV1 CL E G H6480129561ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent3
HP:0001508HP:0001508Failure to thrive0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional1
HP:0001508HP:0001508Failure to thrive0ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare166
HP:0001508HP:0001508Failure to thrive0ASAH1 CL E G H427735ORPHA:333Farber diseaseHP:0040282 - Frequent78
HP:0001508HP:0001508Failure to thrive0ASAH1 CL E G H427735OMIM:228000Farber lipogranulomatosis.78
HP:0001508HP:0001508Failure to thrive0ASCL1 CL E G H429738ORPHA:99803Haddad syndromeHP:0040281 - Very frequent15
HP:0001508HP:0001508Failure to thrive0ASL CL E G H435746OMIM:207900Argininosuccinic aciduria.81
HP:0001508HP:0001508Failure to thrive0ASNS CL E G H440753OMIM:615574Asparagine synthetase deficiency.17
HP:0001508HP:0001508Failure to thrive0ASS1 CL E G H445758OMIM:215700Citrullinemia, classic.119
HP:0001508HP:0001508Failure to thrive0ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndrome145
HP:0001508HP:0001508Failure to thrive0ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome.145
HP:0001508HP:0001508Failure to thrive0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0001508HP:0001508Failure to thrive0ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA3267
HP:0001508HP:0001508Failure to thrive0ATM CL E G H472795ORPHA:100Ataxia-telangiectasiaHP:0040283 - Occasional3267
HP:0001508HP:0001508Failure to thrive0ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent239
HP:0001508HP:0001508Failure to thrive0ATP1A2 CL E G H477800ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent239
HP:0001508HP:0001508Failure to thrive0ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent150
HP:0001508HP:0001508Failure to thrive0ATP1A3 CL E G H478801ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent150
HP:0001508HP:0001508Failure to thrive0ATP5F1A CL E G H498823OMIM:616045Combined oxidative phosphorylation deficiency 22.
HP:0001508HP:0001508Failure to thrive0ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0ATP6 CL E G H45087414ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0ATP6AP1 CL E G H537868OMIM:300972IMMUNODEFICIENCY 47; IMD475
HP:0001508HP:0001508Failure to thrive0ATP6V0A2 CL E G H2354518481ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent140
HP:0001508HP:0001508Failure to thrive0ATP6V0A2 CL E G H2354518481OMIM:219200Cutis laxa, autosomal recessive, type IIA.140
HP:0001508HP:0001508Failure to thrive0ATP6V0A2 CL E G H2354518481OMIM:278250Wrinkly skin syndrome.140
HP:0001508HP:0001508Failure to thrive0ATP6V0A2 CL E G H2354518481ORPHA:2834Wrinkly skin syndromeHP:0040281 - Very frequent140
HP:0001508HP:0001508Failure to thrive0ATP6V0A4 CL E G H50617866OMIM:602722RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR64
HP:0001508HP:0001508Failure to thrive0ATP6V1A CL E G H523851ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent3
HP:0001508HP:0001508Failure to thrive0ATP6V1A CL E G H523851OMIM:617403Cutis laxa, autosomal recessive, type IID.3
HP:0001508HP:0001508Failure to thrive0ATP6V1A CL E G H523851ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent3
HP:0001508HP:0001508Failure to thrive0ATP6V1E1 CL E G H529857ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent2
HP:0001508HP:0001508Failure to thrive0ATP7A CL E G H538869ORPHA:388Hirschsprung disease192
HP:0001508HP:0001508Failure to thrive0ATP7B CL E G H540870ORPHA:905Wilson diseaseHP:0040281 - Very frequent315
HP:0001508HP:0001508Failure to thrive0ATP8B1 CL E G H52053706OMIM:211600Cholestasis, progressive familial intrahepatic 1.144
HP:0001508HP:0001508Failure to thrive0ATPAF2 CL E G H9164718802OMIM:604273Mitochondrial complex V (atp synthase) deficiency, nuclear type 1.32
HP:0001508HP:0001508Failure to thrive0ATXN7 CL E G H631410560ORPHA:94147Spinocerebellar ataxia type 7HP:0040282 - Frequent8
HP:0001508HP:0001508Failure to thrive0AUH CL E G H549890ORPHA:670463-methylglutaconic aciduria type 1HP:0040281 - Very frequent49
HP:0001508HP:0001508Failure to thrive0AUH CL E G H549890OMIM:2509503-methylglutaconic aciduria, type I.49
HP:0001508HP:0001508Failure to thrive0AVPR2 CL E G H554897OMIM:304800Diabetes insipidus, nephrogenic, X-linked.67
HP:0001508HP:0001508Failure to thrive0AVPR2 CL E G H554897ORPHA:223Nephrogenic diabetes insipidusHP:0040282 - Frequent67
HP:0001508HP:0001508Failure to thrive0B3GALT6 CL E G H12679217978OMIM:609465AL-GAZALI SYNDROME38
HP:0001508HP:0001508Failure to thrive0B3GALT6 CL E G H12679217978ORPHA:93359Spondyloepimetaphyseal dysplasia with joint laxityHP:0040281 - Very frequent38
HP:0001508HP:0001508Failure to thrive0B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 1.29
HP:0001508HP:0001508Failure to thrive0BANF1 CL E G H881517397OMIM:614008Nestor-Guillermo progeria syndrome.22
HP:0001508HP:0001508Failure to thrive0BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0001508HP:0001508Failure to thrive0BCAP31 CL E G H1013416695OMIM:300475Deafness, dystonia, and cerebral hypomyelination.8
HP:0001508HP:0001508Failure to thrive0BCAP31 CL E G H1013416695ORPHA:369939Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndromeHP:0040281 - Very frequent8
HP:0001508HP:0001508Failure to thrive0BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0001508HP:0001508Failure to thrive0BCS1L CL E G H6171020OMIM:124000Mitochondrial complex III deficiency, nuclear type 1.72
HP:0001508HP:0001508Failure to thrive0BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0001508HP:0001508Failure to thrive0BLNK CL E G H2976014211ORPHA:33110Autosomal agammaglobulinemiaHP:0040282 - Frequent4
HP:0001508HP:0001508Failure to thrive0BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0001508HP:0001508Failure to thrive0BMPR1A CL E G H6571076OMIM:174900Juvenile polyposis syndromeHP:0040282 - Frequent385
HP:0001508HP:0001508Failure to thrive0BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndrome2
HP:0001508HP:0001508Failure to thrive0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndrome276
HP:0001508HP:0001508Failure to thrive0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0001508HP:0001508Failure to thrive0BRAF CL E G H6731097OMIM:163950Noonan syndrome 1276
HP:0001508HP:0001508Failure to thrive0BRCA1 CL E G H6721100OMIM:617883Fanconi anemia, complementation group S.5769
HP:0001508HP:0001508Failure to thrive0BRCA2 CL E G H6751101OMIM:605724Fanconi anemia, complementation group D17642
HP:0001508HP:0001508Failure to thrive0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0BRF1 CL E G H297211551ORPHA:444072Cerebellar-facial-dental syndromeHP:0040282 - Frequent7
HP:0001508HP:0001508Failure to thrive0BSCL2 CL E G H2658015832ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional105
HP:0001508HP:0001508Failure to thrive0BSND CL E G H780916512OMIM:602522Bartter syndrome, type 4A, neonatal, with sensorineural deafness.53
HP:0001508HP:0001508Failure to thrive0BSND CL E G H780916512ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040282 - Frequent53
HP:0001508HP:0001508Failure to thrive0BTK CL E G H6951133ORPHA:47X-linked agammaglobulinemiaHP:0040281 - Very frequent109
HP:0001508HP:0001508Failure to thrive0BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0001508HP:0001508Failure to thrive0C2ORF69 CL E G H20532726799OMIM:619423COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0001508HP:0001508Failure to thrive0CA12 CL E G H7711371OMIM:143860Hyperchlorhidrosis, isolated.4
HP:0001508HP:0001508Failure to thrive0CA2 CL E G H7601373ORPHA:2785Osteopetrosis with renal tubular acidosisHP:0040281 - Very frequent29
HP:0001508HP:0001508Failure to thrive0CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent449
HP:0001508HP:0001508Failure to thrive0CACNA1A CL E G H7731388ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent449
HP:0001508HP:0001508Failure to thrive0CACNA1B CL E G H7741389ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent5
HP:0001508HP:0001508Failure to thrive0CACNA2D1 CL E G H7811399ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent59
HP:0001508HP:0001508Failure to thrive0CAMKMT CL E G H7982326276ORPHA:1636932p21 microdeletion syndromeHP:0040281 - Very frequent1
HP:0001508HP:0001508Failure to thrive0CARMIL2 CL E G H14620627089OMIM:618131IMMUNODEFICIENCY 58; IMD583
HP:0001508HP:0001508Failure to thrive0CARS1 CL E G H8331493OMIM:618891MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0001508HP:0001508Failure to thrive0CARS2 CL E G H7958725695OMIM:616672Combined oxidative phosphorylation deficiency 27.35
HP:0001508HP:0001508Failure to thrive0CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare118
HP:0001508HP:0001508Failure to thrive0CASK CL E G H85731497ORPHA:163937X-linked intellectual disability, Najm typeHP:0040283 - Occasional118
HP:0001508HP:0001508Failure to thrive0CASP8 CL E G H8411509OMIM:607271CASPASE 8 DEFICIENCY37
HP:0001508HP:0001508Failure to thrive0CASR CL E G H8461514OMIM:239200Hyperparathyroidism, neonatal severe.272
HP:0001508HP:0001508Failure to thrive0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent3
HP:0001508HP:0001508Failure to thrive0CAV1 CL E G H8571527ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional11
HP:0001508HP:0001508Failure to thrive0CAV1 CL E G H8571527OMIM:606721Lipodystrophy, familial partial, type 711
HP:0001508HP:0001508Failure to thrive0CAVIN1 CL E G H2841199688ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional48
HP:0001508HP:0001508Failure to thrive0CAVIN1 CL E G H2841199688OMIM:613327Lipodystrophy, congenital generalized, type 4.48
HP:0001508HP:0001508Failure to thrive0CBS CL E G H8751550OMIM:236200Homocystinuria due to cystathionine beta-synthase deficiencyHP:0040283 - Occasional242
HP:0001508HP:0001508Failure to thrive0CD19 CL E G H9301633ORPHA:1572Common variable immunodeficiency38
HP:0001508HP:0001508Failure to thrive0CD247 CL E G H9191677ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040282 - Frequent8
HP:0001508HP:0001508Failure to thrive0CD247 CL E G H9191677ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta8
HP:0001508HP:0001508Failure to thrive0CD3D CL E G H9151673OMIM:615617Immunodeficiency 19.18
HP:0001508HP:0001508Failure to thrive0CD3D CL E G H9151673ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta18
HP:0001508HP:0001508Failure to thrive0CD3E CL E G H9161674ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta24
HP:0001508HP:0001508Failure to thrive0CD3G CL E G H9171675OMIM:615607Immunodeficiency 17HP:0040283 - Occasional19
HP:0001508HP:0001508Failure to thrive0CD40LG CL E G H95911935OMIM:308230Immunodeficiency, X-linked, with hyper-IgM33
HP:0001508HP:0001508Failure to thrive0CD79A CL E G H9731698OMIM:613501Agammaglobulinemia 3, autosomal recessive.9
HP:0001508HP:0001508Failure to thrive0CD79A CL E G H9731698ORPHA:33110Autosomal agammaglobulinemiaHP:0040282 - Frequent9
HP:0001508HP:0001508Failure to thrive0CD79B CL E G H9741699ORPHA:33110Autosomal agammaglobulinemiaHP:0040282 - Frequent6
HP:0001508HP:0001508Failure to thrive0CD81 CL E G H9751701ORPHA:1572Common variable immunodeficiency1
HP:0001508HP:0001508Failure to thrive0CD96 CL E G H1022516892OMIM:211750C syndrome.83
HP:0001508HP:0001508Failure to thrive0CD96 CL E G H1022516892ORPHA:1308C syndrome83
HP:0001508HP:0001508Failure to thrive0CDC45 CL E G H83181739ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent9
HP:0001508HP:0001508Failure to thrive0CDC6 CL E G H9901744ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent31
HP:0001508HP:0001508Failure to thrive0CDC6 CL E G H9901744OMIM:613805Meier-Gorlin syndrome 5.31
HP:0001508HP:0001508Failure to thrive0CDK19 CL E G H2309719338ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare405
HP:0001508HP:0001508Failure to thrive0CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent200
HP:0001508HP:0001508Failure to thrive0CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent200
HP:0001508HP:0001508Failure to thrive0CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent200
HP:0001508HP:0001508Failure to thrive0CDON CL E G H5093717104ORPHA:95496Pituitary stalk interruption syndromeHP:0040281 - Very frequent200
HP:0001508HP:0001508Failure to thrive0CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent200
HP:0001508HP:0001508Failure to thrive0CDT1 CL E G H8162024576ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent50
HP:0001508HP:0001508Failure to thrive0CDT1 CL E G H8162024576OMIM:613804Meier-Gorlin syndrome 4.50
HP:0001508HP:0001508Failure to thrive0CEACAM3 CL E G H10841815ORPHA:586Cystic fibrosis
HP:0001508HP:0001508Failure to thrive0CEACAM6 CL E G H46801818ORPHA:586Cystic fibrosis1
HP:0001508HP:0001508Failure to thrive0CELF2 CL E G H106592550ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0CENPT CL E G H8015225787OMIM:618702SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0001508HP:0001508Failure to thrive0CERS3 CL E G H20421923752ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent5
HP:0001508HP:0001508Failure to thrive0CFTR CL E G H10801884ORPHA:586Cystic fibrosis1371
HP:0001508HP:0001508Failure to thrive0CFTR CL E G H10801884OMIM:219700Cystic fibrosis1371
HP:0001508HP:0001508Failure to thrive0CHD7 CL E G H5563620626ORPHA:39041Omenn syndromeHP:0040281 - Very frequent515
HP:0001508HP:0001508Failure to thrive0CHRM3 CL E G H11311952ORPHA:2970Prune belly syndromeHP:0040283 - Occasional4
HP:0001508HP:0001508Failure to thrive0CHRNA3 CL E G H11361957OMIM:191800URINARY BLADDER, ATONY OF4
HP:0001508HP:0001508Failure to thrive0CHRNG CL E G H11461967ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040283 - Occasional68
HP:0001508HP:0001508Failure to thrive0CIITA CL E G H42617067OMIM:209920Bare lymphocyte syndrome, type II.118
HP:0001508HP:0001508Failure to thrive0CIITA CL E G H42617067ORPHA:572Immunodeficiency by defective expression of MHC class IIHP:0040282 - Frequent118
HP:0001508HP:0001508Failure to thrive0CIT CL E G H111131985OMIM:617090Microcephaly 17, primary, autosomal recessive.15
HP:0001508HP:0001508Failure to thrive0CLCA4 CL E G H228022018ORPHA:586Cystic fibrosis
HP:0001508HP:0001508Failure to thrive0CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0001508HP:0001508Failure to thrive0CLCNKA CL E G H11872026OMIM:613090Bartter syndrome, type 4B, neonatal, with sensorineural deafness.9
HP:0001508HP:0001508Failure to thrive0CLCNKA CL E G H11872026ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040282 - Frequent9
HP:0001508HP:0001508Failure to thrive0CLCNKB CL E G H11882027OMIM:613090Bartter syndrome, type 4B, neonatal, with sensorineural deafness.27
HP:0001508HP:0001508Failure to thrive0CLCNKB CL E G H11882027ORPHA:358Gitelman syndromeHP:0040282 - Frequent27
HP:0001508HP:0001508Failure to thrive0CLCNKB CL E G H11882027ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040282 - Frequent27
HP:0001508HP:0001508Failure to thrive0CLDN16 CL E G H106862037OMIM:248250Hypomagnesemia 3, renal.58
HP:0001508HP:0001508Failure to thrive0CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0001508HP:0001508Failure to thrive0CLMP CL E G H7982724039OMIM:615237Congenital short bowel syndrome.7
HP:0001508HP:0001508Failure to thrive0CLTC CL E G H12132092ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent1
HP:0001508HP:0001508Failure to thrive0CNKSR2 CL E G H2286619701ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent18
HP:0001508HP:0001508Failure to thrive0COA8 CL E G H8433420492ORPHA:436271Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathyHP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0COG1 CL E G H93826545ORPHA:263508COG1-CDGHP:0040282 - Frequent52
HP:0001508HP:0001508Failure to thrive0COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg52
HP:0001508HP:0001508Failure to thrive0COG4 CL E G H2583918620ORPHA:263501COG4-CDG67
HP:0001508HP:0001508Failure to thrive0COG4 CL E G H2583918620OMIM:613489Congenital disorder of glycosylation, type IIjHP:0040283 - Occasional67
HP:0001508HP:0001508Failure to thrive0COG6 CL E G H5751118621OMIM:614576CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L71
HP:0001508HP:0001508Failure to thrive0COG7 CL E G H9194918622ORPHA:79333COG7-CDG64
HP:0001508HP:0001508Failure to thrive0COG7 CL E G H9194918622OMIM:608779Congenital disorder of glycosylation, type IIe.64
HP:0001508HP:0001508Failure to thrive0COG8 CL E G H8434218623ORPHA:95428COG8-CDGHP:0040282 - Frequent39
HP:0001508HP:0001508Failure to thrive0COG8 CL E G H8434218623OMIM:611182Congenital disorder of glycosylation, type IIh39
HP:0001508HP:0001508Failure to thrive0COL12A1 CL E G H13032188ORPHA:536516Myopathic Ehlers-Danlos syndromeHP:0040283 - Occasional65
HP:0001508HP:0001508Failure to thrive0COL4A5 CL E G H12872207ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosisHP:0040282 - Frequent678
HP:0001508HP:0001508Failure to thrive0COL4A6 CL E G H12882208ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosisHP:0040282 - Frequent18
HP:0001508HP:0001508Failure to thrive0COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1.442
HP:0001508HP:0001508Failure to thrive0COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1.478
HP:0001508HP:0001508Failure to thrive0COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1.702
HP:0001508HP:0001508Failure to thrive0COL7A1 CL E G H12942214ORPHA:89842Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate formHP:0040282 - Frequent263
HP:0001508HP:0001508Failure to thrive0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional6
HP:0001508HP:0001508Failure to thrive0COPB2 CL E G H92762232OMIM:617800Microcephaly 19, primary, autosomal recessive
HP:0001508HP:0001508Failure to thrive0COX1 CL E G H45127419ORPHA:550MELASHP:0040283 - Occasional
HP:0001508HP:0001508Failure to thrive0COX10 CL E G H13522260OMIM:619046MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN382
HP:0001508HP:0001508Failure to thrive0COX15 CL E G H13552263ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent104
HP:0001508HP:0001508Failure to thrive0COX2 CL E G H45137421ORPHA:550MELASHP:0040283 - Occasional
HP:0001508HP:0001508Failure to thrive0COX3 CL E G H45147422ORPHA:550MELASHP:0040283 - Occasional
HP:0001508HP:0001508Failure to thrive0COX4I1 CL E G H13272265OMIM:619060MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0001508HP:0001508Failure to thrive0COX4I2 CL E G H8470116232OMIM:612714Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis.13
HP:0001508HP:0001508Failure to thrive0COX5A CL E G H93772267OMIM:619064MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0001508HP:0001508Failure to thrive0COX7B CL E G H13492291ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional6
HP:0001508HP:0001508Failure to thrive0CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI.
HP:0001508HP:0001508Failure to thrive0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent1
HP:0001508HP:0001508Failure to thrive0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0001508HP:0001508Failure to thrive0CPS1 CL E G H13732323OMIM:237300Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to.124
HP:0001508HP:0001508Failure to thrive0CPSF3 CL E G H516922326OMIM:619876
HP:0001508HP:0001508Failure to thrive0CR2 CL E G H13802336ORPHA:1572Common variable immunodeficiency10
HP:0001508HP:0001508Failure to thrive0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0001508HP:0001508Failure to thrive0CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletionHP:0040282 - Frequent291
HP:0001508HP:0001508Failure to thrive0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040282 - Frequent291
HP:0001508HP:0001508Failure to thrive0CSF2RA CL E G H14382435ORPHA:264675Hereditary pulmonary alveolar proteinosis15
HP:0001508HP:0001508Failure to thrive0CSF2RA CL E G H14382435OMIM:300770SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP415
HP:0001508HP:0001508Failure to thrive0CSF2RB CL E G H14392436ORPHA:264675Hereditary pulmonary alveolar proteinosis17
HP:0001508HP:0001508Failure to thrive0CSNK2A1 CL E G H14572457OMIM:617062Okur-Chung neurodevelopmental syndromeHP:0040283 - Occasional12
HP:0001508HP:0001508Failure to thrive0CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040282 - Frequent57
HP:0001508HP:0001508Failure to thrive0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0001508HP:0001508Failure to thrive0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent2
HP:0001508HP:0001508Failure to thrive0CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorderHP:0040282 - Frequent20
HP:0001508HP:0001508Failure to thrive0CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic178
HP:0001508HP:0001508Failure to thrive0CTNS CL E G H14972518ORPHA:411629Infantile nephropathic cystinosisHP:0040281 - Very frequent178
HP:0001508HP:0001508Failure to thrive0CTNS CL E G H14972518ORPHA:411634Juvenile nephropathic cystinosisHP:0040284 - Very rare178
HP:0001508HP:0001508Failure to thrive0CUBN CL E G H80292548ORPHA:35858Imerslund-Gräsbeck syndromeHP:0040283 - Occasional273
HP:0001508HP:0001508Failure to thrive0CUL3 CL E G H84522553OMIM:619239NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS92
HP:0001508HP:0001508Failure to thrive0CYB5A CL E G H15282570ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiencyHP:0040283 - Occasional2
HP:0001508HP:0001508Failure to thrive0CYC1 CL E G H15372579OMIM:615453Mitochondrial complex III deficiency, nuclear type 612
HP:0001508HP:0001508Failure to thrive0CYFIP2 CL E G H2699913760ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent1
HP:0001508HP:0001508Failure to thrive0CYP11A1 CL E G H15832590ORPHA:16855846,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiencyHP:0040281 - Very frequent31
HP:0001508HP:0001508Failure to thrive0CYP11A1 CL E G H15832590ORPHA:289548Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiencyHP:0040281 - Very frequent31
HP:0001508HP:0001508Failure to thrive0CYP11B2 CL E G H15852592OMIM:203400Corticosterone methyloxidase type I deficiency.73
HP:0001508HP:0001508Failure to thrive0CYP11B2 CL E G H15852592ORPHA:556030Early-onset familial hypoaldosteronismHP:0040281 - Very frequent73
HP:0001508HP:0001508Failure to thrive0CYP11B2 CL E G H15852592OMIM:610600Hypoaldosteronism, congenital, due to CMO II deficiency73
HP:0001508HP:0001508Failure to thrive0CYP17A1 CL E G H15862593ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiencyHP:0040283 - Occasional53
HP:0001508HP:0001508Failure to thrive0CYP17A1 CL E G H15862593ORPHA:90793Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiencyHP:0040283 - Occasional53
HP:0001508HP:0001508Failure to thrive0CYP24A1 CL E G H15912602OMIM:143880Hypercalcemia, infantile, 1.73
HP:0001508HP:0001508Failure to thrive0CYP27B1 CL E G H15942606ORPHA:289157Hypocalcemic vitamin D-dependent ricketsHP:0040281 - Very frequent41
HP:0001508HP:0001508Failure to thrive0CYP27B1 CL E G H15942606OMIM:264700Vitamin D hydroxylation-deficient rickets, type 1A.41
HP:0001508HP:0001508Failure to thrive0CYP2R1 CL E G H12022720580ORPHA:289157Hypocalcemic vitamin D-dependent ricketsHP:0040281 - Very frequent5
HP:0001508HP:0001508Failure to thrive0CYP2R1 CL E G H12022720580OMIM:600081Vitamin D hydroxylation-deficient rickets, type 1B.5
HP:0001508HP:0001508Failure to thrive0CYP7B1 CL E G H94202652OMIM:613812Bile acid synthesis defect, congenital, 3.57
HP:0001508HP:0001508Failure to thrive0CYTB CL E G H45197427ORPHA:137675Histiocytoid cardiomyopathyHP:0040283 - Occasional
HP:0001508HP:0001508Failure to thrive0DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndromeHP:0040283 - Occasional2
HP:0001508HP:0001508Failure to thrive0DALRD3 CL E G H5515225536ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0DCLRE1C CL E G H6442117642OMIM:603554Omenn syndrome.94
HP:0001508HP:0001508Failure to thrive0DCLRE1C CL E G H6442117642ORPHA:39041Omenn syndromeHP:0040281 - Very frequent94
HP:0001508HP:0001508Failure to thrive0DCLRE1C CL E G H6442117642ORPHA:275Severe combined immunodeficiency due to DCLRE1C deficiencyHP:0040283 - Occasional94
HP:0001508HP:0001508Failure to thrive0DCLRE1C CL E G H6442117642OMIM:602450Severe combined immunodeficiency with sensitivity to ionizing radiation.94
HP:0001508HP:0001508Failure to thrive0DCTN4 CL E G H5116415518ORPHA:586Cystic fibrosis
HP:0001508HP:0001508Failure to thrive0DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent30
HP:0001508HP:0001508Failure to thrive0DDOST CL E G H16502728OMIM:614507Congenital disorder of glycosylation, type IR.62
HP:0001508HP:0001508Failure to thrive0DDOST CL E G H16502728ORPHA:300536DDOST-CDGHP:0040281 - Very frequent62
HP:0001508HP:0001508Failure to thrive0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndrome33
HP:0001508HP:0001508Failure to thrive0DEGS1 CL E G H856013709OMIM:618404Leukodystrophy, hypomyelinating, 18
HP:0001508HP:0001508Failure to thrive0DGAT1 CL E G H86942843OMIM:615863Diarrhea 7, protein-losing Enteropathy type.9
HP:0001508HP:0001508Failure to thrive0DGUOK CL E G H17162858OMIM:251880Mitochondrial DNA depletion syndrome 3 (hepatocerebral type).57
HP:0001508HP:0001508Failure to thrive0DHCR24 CL E G H17182859OMIM:602398DESMOSTEROLOSIS.72
HP:0001508HP:0001508Failure to thrive0DHCR24 CL E G H17182859ORPHA:35107DesmosterolosisHP:0040281 - Very frequent72
HP:0001508HP:0001508Failure to thrive0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0001508HP:0001508Failure to thrive0DHDDS CL E G H7994720603ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent47
HP:0001508HP:0001508Failure to thrive0DHDDS CL E G H7994720603OMIM:613861Retinitis pigmentosa 59.47
HP:0001508HP:0001508Failure to thrive0DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent22
HP:0001508HP:0001508Failure to thrive0DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent22
HP:0001508HP:0001508Failure to thrive0DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent22
HP:0001508HP:0001508Failure to thrive0DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent22
HP:0001508HP:0001508Failure to thrive0DKC1 CL E G H17362890ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040281 - Very frequent65
HP:0001508HP:0001508Failure to thrive0DLD CL E G H17382898ORPHA:2394Pyruvate dehydrogenase E3 deficiencyHP:0040283 - Occasional89
HP:0001508HP:0001508Failure to thrive0DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent3
HP:0001508HP:0001508Failure to thrive0DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent3
HP:0001508HP:0001508Failure to thrive0DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent3
HP:0001508HP:0001508Failure to thrive0DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent3
HP:0001508HP:0001508Failure to thrive0DLL4 CL E G H545672910ORPHA:974Adams-Oliver syndromeHP:0040281 - Very frequent9
HP:0001508HP:0001508Failure to thrive0DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare3
HP:0001508HP:0001508Failure to thrive0DNAJC21 CL E G H13421827030OMIM:617052Bone marrow failure syndrome 3.5
HP:0001508HP:0001508Failure to thrive0DNAJC21 CL E G H13421827030ORPHA:811Shwachman-Diamond syndromeHP:0040282 - Frequent5
HP:0001508HP:0001508Failure to thrive0DNAJC21 CL E G H13421827030OMIM:260400Shwachman-Diamond syndrome 1.5
HP:0001508HP:0001508Failure to thrive0DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0001508HP:0001508Failure to thrive0DNASE2 CL E G H17772960OMIM:619858
HP:0001508HP:0001508Failure to thrive0DNM1 CL E G H17592972ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent72
HP:0001508HP:0001508Failure to thrive0DNM1L CL E G H100592973OMIM:614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1.94
HP:0001508HP:0001508Failure to thrive0DNMT3B CL E G H17892979OMIM:242860Immunodeficiency-Centromeric instability-facial anomalies syndrome.79
HP:0001508HP:0001508Failure to thrive0DOCK6 CL E G H5757219189ORPHA:974Adams-Oliver syndromeHP:0040281 - Very frequent18
HP:0001508HP:0001508Failure to thrive0DOLK CL E G H2284523406OMIM:610768Congenital disorder of glycosylation, type Im.55
HP:0001508HP:0001508Failure to thrive0DOLK CL E G H2284523406ORPHA:91131DK1-CDG55
HP:0001508HP:0001508Failure to thrive0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040282 - Frequent38
HP:0001508HP:0001508Failure to thrive0DPM1 CL E G H88133005OMIM:608799Congenital disorder of glycosylation, type IE.27
HP:0001508HP:0001508Failure to thrive0DPM1 CL E G H88133005ORPHA:79322DPM1-CDGHP:0040282 - Frequent27
HP:0001508HP:0001508Failure to thrive0DPM2 CL E G H88183006ORPHA:329178Congenital muscular dystrophy with intellectual disability and severe epilepsyHP:0040282 - Frequent26
HP:0001508HP:0001508Failure to thrive0DPYD CL E G H18063012OMIM:274270Dihydropyrimidine dehydrogenase deficiency.144
HP:0001508HP:0001508Failure to thrive0DSP CL E G H18323052OMIM:607655Skin fragility-woolly hair syndrome.747
HP:0001508HP:0001508Failure to thrive0DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen diseaseHP:0040281 - Very frequent65
HP:0001508HP:0001508Failure to thrive0DYNC2I1 CL E G H5511221862OMIM:615503Short rib-polydactyly syndrome, type VI.
HP:0001508HP:0001508Failure to thrive0DYNC2LI1 CL E G H5162624595ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent7
HP:0001508HP:0001508Failure to thrive0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion134
HP:0001508HP:0001508Failure to thrive0DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutationHP:0040282 - Frequent134
HP:0001508HP:0001508Failure to thrive0DYRK1A CL E G H18593091OMIM:614104Mental retardation, autosomal dominant 7134
HP:0001508HP:0001508Failure to thrive0EARS2 CL E G H12445429419OMIM:614924Combined oxidative phosphorylation deficiency 12.80
HP:0001508HP:0001508Failure to thrive0EBP CL E G H106823133OMIM:302960Chondrodysplasia punctata 2, X-linked dominant.51
HP:0001508HP:0001508Failure to thrive0EBP CL E G H106823133ORPHA:401973MEND syndromeHP:0040282 - Frequent51
HP:0001508HP:0001508Failure to thrive0ECE1 CL E G H18893146ORPHA:388Hirschsprung disease13
HP:0001508HP:0001508Failure to thrive0ECHS1 CL E G H18923151ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent33
HP:0001508HP:0001508Failure to thrive0EDN3 CL E G H19083178ORPHA:388Hirschsprung disease67
HP:0001508HP:0001508Failure to thrive0EDNRA CL E G H19093179ORPHA:586Cystic fibrosis3
HP:0001508HP:0001508Failure to thrive0EDNRB CL E G H19103180ORPHA:388Hirschsprung disease55
HP:0001508HP:0001508Failure to thrive0EEF1A2 CL E G H19173192ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent60
HP:0001508HP:0001508Failure to thrive0EFL1 CL E G H7963125789ORPHA:811Shwachman-Diamond syndromeHP:0040282 - Frequent1
HP:0001508HP:0001508Failure to thrive0EFL1 CL E G H7963125789OMIM:617941Shwachman-Diamond syndrome 2.1
HP:0001508HP:0001508Failure to thrive0EGFR CL E G H19563236OMIM:616069Inflammatory skin and bowel disease, neonatal, 2.257
HP:0001508HP:0001508Failure to thrive0EHMT1 CL E G H7981324650ORPHA:96147Kleefstra syndrome due to 9q34 microdeletionHP:0040283 - Occasional223
HP:0001508HP:0001508Failure to thrive0EHMT1 CL E G H7981324650ORPHA:261652Kleefstra syndrome due to a point mutationHP:0040283 - Occasional223
HP:0001508HP:0001508Failure to thrive0EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0001508HP:0001508Failure to thrive0EIF5A CL E G H19843300OMIM:619376FAUNDES-BANKA SYNDROME; FABAS
HP:0001508HP:0001508Failure to thrive0ELAC2 CL E G H6052814198OMIM:615440Combined oxidative phosphorylation deficiency 17.67
HP:0001508HP:0001508Failure to thrive0ELMO2 CL E G H6391617233ORPHA:3019Ramon syndromeHP:0040281 - Very frequent3
HP:0001508HP:0001508Failure to thrive0ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0001508HP:0001508Failure to thrive0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0001508HP:0001508Failure to thrive0EN1 CL E G H20193342OMIM:619218ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB1
HP:0001508HP:0001508Failure to thrive0ENPP1 CL E G H51673356ORPHA:51608Generalized arterial calcification of infancy151
HP:0001508HP:0001508Failure to thrive0EOGT CL E G H28520328526ORPHA:974Adams-Oliver syndromeHP:0040281 - Very frequent4
HP:0001508HP:0001508Failure to thrive0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0001508HP:0001508Failure to thrive0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040282 - Frequent250
HP:0001508HP:0001508Failure to thrive0EPCAM CL E G H407211529ORPHA:92050Congenital tufting enteropathyHP:0040281 - Very frequent170
HP:0001508HP:0001508Failure to thrive0EPCAM CL E G H407211529OMIM:613217Diarrhea 5, with tufting enteropathy, congenital.170
HP:0001508HP:0001508Failure to thrive0EPG5 CL E G H5772429331OMIM:242840Vici syndrome.40
HP:0001508HP:0001508Failure to thrive0EPRS1 CL E G H20583418OMIM:617951Leukodystrophy, hypomyelinating, 15.
HP:0001508HP:0001508Failure to thrive0ERBB2 CL E G H20643430ORPHA:388Hirschsprung disease77
HP:0001508HP:0001508Failure to thrive0ERBB3 CL E G H20653431ORPHA:388Hirschsprung disease12
HP:0001508HP:0001508Failure to thrive0ERCC1 CL E G H20673433OMIM:610758Cerebrooculofacioskeletal syndrome 420
HP:0001508HP:0001508Failure to thrive0ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent106
HP:0001508HP:0001508Failure to thrive0ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent54
HP:0001508HP:0001508Failure to thrive0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1HP:0040281 - Very frequent158
HP:0001508HP:0001508Failure to thrive0ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent158
HP:0001508HP:0001508Failure to thrive0ERCC4 CL E G H20723436OMIM:610965XFE progeroid syndrome158
HP:0001508HP:0001508Failure to thrive0ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent83
HP:0001508HP:0001508Failure to thrive0ERCC6 CL E G H20743438OMIM:214150Cerebrooculofacioskeletal syndrome 1.199
HP:0001508HP:0001508Failure to thrive0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1HP:0040281 - Very frequent199
HP:0001508HP:0001508Failure to thrive0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B199
HP:0001508HP:0001508Failure to thrive0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A55
HP:0001508HP:0001508Failure to thrive0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 1HP:0040281 - Very frequent55
HP:0001508HP:0001508Failure to thrive0ERMARD CL E G H5578021056ORPHA:758576q terminal deletion syndromeHP:0040281 - Very frequent36
HP:0001508HP:0001508Failure to thrive0ETHE1 CL E G H2347423287OMIM:602473Encephalopathy, ethylmalonic.42
HP:0001508HP:0001508Failure to thrive0ETHE1 CL E G H2347423287ORPHA:51188Ethylmalonic encephalopathyHP:0040282 - Frequent42
HP:0001508HP:0001508Failure to thrive0EVC CL E G H21213497ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent209
HP:0001508HP:0001508Failure to thrive0EVC2 CL E G H13288419747ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent137
HP:0001508HP:0001508Failure to thrive0EXOC6B CL E G H2323317085ORPHA:93359Spondyloepimetaphyseal dysplasia with joint laxityHP:0040281 - Very frequent3
HP:0001508HP:0001508Failure to thrive0EXOSC3 CL E G H5101017944ORPHA:2254Pontocerebellar hypoplasia type 138
HP:0001508HP:0001508Failure to thrive0EXOSC8 CL E G H1134017035ORPHA:2254Pontocerebellar hypoplasia type 14
HP:0001508HP:0001508Failure to thrive0EXOSC8 CL E G H1134017035OMIM:616081Pontocerebellar hypoplasia, type 1C.4
HP:0001508HP:0001508Failure to thrive0EXOSC9 CL E G H53939137ORPHA:2254Pontocerebellar hypoplasia type 1
HP:0001508HP:0001508Failure to thrive0EXOSC9 CL E G H53939137OMIM:618065Pontocerebellar hypoplasia, type 1D.
HP:0001508HP:0001508Failure to thrive0FAH CL E G H21843579OMIM:276700Tyrosinemia, type I.107
HP:0001508HP:0001508Failure to thrive0FAM111A CL E G H6390124725OMIM:602361Gracile bone dysplasia.8
HP:0001508HP:0001508Failure to thrive0FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0FANCF CL E G H21883587OMIM:603467FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF87
HP:0001508HP:0001508Failure to thrive0FARSB CL E G H1005617800OMIM:613658Rajab interstitial lung disease with brain calcifications
HP:0001508HP:0001508Failure to thrive0FBN1 CL E G H22003603ORPHA:2462Shprintzen-Goldberg syndromeHP:0040283 - Occasional1361
HP:0001508HP:0001508Failure to thrive0FBXL4 CL E G H2623513601OMIM:615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type).384
HP:0001508HP:0001508Failure to thrive0FCGR2A CL E G H22123616OMIM:219700Cystic fibrosis6
HP:0001508HP:0001508Failure to thrive0FDFT1 CL E G H22223629OMIM:618156SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0001508HP:0001508Failure to thrive0FDXR CL E G H22323642ORPHA:543470Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndromeHP:0040281 - Very frequent
HP:0001508HP:0001508Failure to thrive0FGD1 CL E G H22453663OMIM:305400Aarskog-Scott syndrome.62
HP:0001508HP:0001508Failure to thrive0FGF12 CL E G H22573668ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent3
HP:0001508HP:0001508Failure to thrive0FGF13 CL E G H22583670ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent1
HP:0001508HP:0001508Failure to thrive0FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent17
HP:0001508HP:0001508Failure to thrive0FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent17
HP:0001508HP:0001508Failure to thrive0FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent17
HP:0001508HP:0001508Failure to thrive0FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent17
HP:0001508HP:0001508Failure to thrive0FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent172
HP:0001508HP:0001508Failure to thrive0FGFR1 CL E G H22603688OMIM:166250Osteoglophonic dysplasia.172
HP:0001508HP:0001508Failure to thrive0FGFR1 CL E G H22603688ORPHA:2645Osteoglosphonic dysplasia172
HP:0001508HP:0001508Failure to thrive0FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent172
HP:0001508HP:0001508Failure to thrive0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0001508HP:0001508Failure to thrive0FH CL E G H22713700OMIM:606812Fumarase deficiency.301
HP:0001508HP:0001508Failure to thrive0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0001508HP:0001508Failure to thrive0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0001508HP:0001508Failure to thrive0FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0001508HP:0001508Failure to thrive0FLCN CL E G H20116327310OMIM:610883Potocki-Lupski syndrome332
HP:0001508HP:0001508Failure to thrive0FLII CL E G H23143750ORPHA:819Smith-Magenis syndrome
HP:0001508HP:0001508Failure to thrive0FLNA CL E G H23163754OMIM:309350Melnick-Needles syndrome.493
HP:0001508HP:0001508Failure to thrive0FLNA CL E G H23163754ORPHA:90652Otopalatodigital syndrome type 2HP:0040282 - Frequent493
HP:0001508HP:0001508Failure to thrive0FMR1 CL E G H23323775ORPHA:261483Xq27.3q28 duplication syndromeHP:0040281 - Very frequent30
HP:0001508HP:0001508Failure to thrive0FOCAD CL E G H5491423377OMIM:6199913
HP:0001508HP:0001508Failure to thrive0FOS CL E G H23533796ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional
HP:0001508HP:0001508Failure to thrive0FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent48
HP:0001508HP:0001508Failure to thrive0FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent48
HP:0001508HP:0001508Failure to thrive0FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent48
HP:0001508HP:0001508Failure to thrive0FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent48
HP:0001508HP:0001508Failure to thrive0FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndromeHP:0040282 - Frequent184
HP:0001508HP:0001508Failure to thrive0FOXP1 CL E G H270863823OMIM:613670Mental retardation with language impairment and with or without autistic features184
HP:0001508HP:0001508Failure to thrive0FOXP3 CL E G H509436106ORPHA:37042Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome32
HP:0001508HP:0001508Failure to thrive0FOXP3 CL E G H509436106OMIM:304790Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked32
HP:0001508HP:0001508Failure to thrive0FOXRED1 CL E G H5557226927ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent61
HP:0001508HP:0001508Failure to thrive0FOXRED1 CL E G H5557226927ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent61
HP:0001508HP:0001508Failure to thrive0FTO CL E G H7906824678OMIM:612938Growth retardation, developmental delay, coarse facies, and earlydeath.70
HP:0001508HP:0001508Failure to thrive0FUCA1 CL E G H25174006ORPHA:349FucosidosisHP:0040281 - Very frequent43
HP:0001508HP:0001508Failure to thrive0FUT8 CL E G H25304019OMIM:618005Congenital disorder of glycosylation with defective fucosylation 1.3
HP:0001508HP:0001508Failure to thrive0FZR1 CL E G H5134324824ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0G6PC3 CL E G H9257924861OMIM:612541Neutropenia, severe congenital, 4, autosomal recessive.37
HP:0001508HP:0001508Failure to thrive0GAA CL E G H25484065ORPHA:308552Glycogen storage disease due to acid maltase deficiency, infantile onsetHP:0040281 - Very frequent407
HP:0001508HP:0001508Failure to thrive0GABBR2 CL E G H95684507ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent5
HP:0001508HP:0001508Failure to thrive0GABRA2 CL E G H25554076ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent4
HP:0001508HP:0001508Failure to thrive0GABRA5 CL E G H25584079ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0GABRB2 CL E G H25614082ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent44
HP:0001508HP:0001508Failure to thrive0GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent10
HP:0001508HP:0001508Failure to thrive0GABRG2 CL E G H25664087ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent139
HP:0001508HP:0001508Failure to thrive0GALC CL E G H25814115ORPHA:206436Infantile Krabbe diseaseHP:0040282 - Frequent160
HP:0001508HP:0001508Failure to thrive0GALC CL E G H25814115OMIM:245200Krabbe disease.160
HP:0001508HP:0001508Failure to thrive0GALE CL E G H25824116OMIM:230350Galactose epimerase deficiency.52
HP:0001508HP:0001508Failure to thrive0GALK1 CL E G H25844118ORPHA:79237Galactokinase deficiencyHP:0040284 - Very rare23
HP:0001508HP:0001508Failure to thrive0GALM CL E G H13058924063ORPHA:570422Galactose mutarotase deficiencyHP:0040284 - Very rare
HP:0001508HP:0001508Failure to thrive0GALT CL E G H25924135OMIM:230400GALACTOSEMIA.351
HP:0001508HP:0001508Failure to thrive0GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent2
HP:0001508HP:0001508Failure to thrive0GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent2
HP:0001508HP:0001508Failure to thrive0GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent2
HP:0001508HP:0001508Failure to thrive0GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent2
HP:0001508HP:0001508Failure to thrive0GATA6 CL E G H26274174OMIM:600001Pancreatic agenesis and congenital heart defects.37
HP:0001508HP:0001508Failure to thrive0GATA6 CL E G H26274174ORPHA:2255Pancreatic hypoplasia-diabetes-congenital heart disease syndromeHP:0040282 - Frequent37
HP:0001508HP:0001508Failure to thrive0GATM CL E G H26284175OMIM:612718Cerebral creatine deficiency syndrome 3.86
HP:0001508HP:0001508Failure to thrive0GBA1 CL E G H26294177OMIM:230900Gaucher disease, type II.
HP:0001508HP:0001508Failure to thrive0GBE1 CL E G H26324180OMIM:232500Glycogen storage disease IV.86
HP:0001508HP:0001508Failure to thrive0GCDH CL E G H26394189OMIM:231670Glutaric acidemia I.115
HP:0001508HP:0001508Failure to thrive0GCK CL E G H26454195ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040281 - Very frequent237
HP:0001508HP:0001508Failure to thrive0GCLC CL E G H27294311ORPHA:586Cystic fibrosis2
HP:0001508HP:0001508Failure to thrive0GDNF CL E G H26684232ORPHA:388Hirschsprung disease59
HP:0001508HP:0001508Failure to thrive0GFAP CL E G H26704235ORPHA:363717Alexander disease type I188
HP:0001508HP:0001508Failure to thrive0GGPS1 CL E G H94534249OMIM:619518MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0001508HP:0001508Failure to thrive0GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive.68
HP:0001508HP:0001508Failure to thrive0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0001508HP:0001508Failure to thrive0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0001508HP:0001508Failure to thrive0GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0001508HP:0001508Failure to thrive0GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0001508HP:0001508Failure to thrive0GLB1 CL E G H27204298OMIM:230600Gm1-gangliosidosis, type II120
HP:0001508HP:0001508Failure to thrive0GLI1 CL E G H27354317ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent1
HP:0001508HP:0001508Failure to thrive0GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent173
HP:0001508HP:0001508Failure to thrive0GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent173
HP:0001508HP:0001508Failure to thrive0GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent173
HP:0001508HP:0001508Failure to thrive0GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent173
HP:0001508HP:0001508Failure to thrive0GLUD1 CL E G H27464335OMIM:606762Hyperinsulinemic hypoglycemia, familial, 656
HP:0001508HP:0001508Failure to thrive0GLYCTK CL E G H13215824247OMIM:220120D-GLYCERIC ACIDURIA.6
HP:0001508HP:0001508Failure to thrive0GMNN CL E G H5105317493ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent3
HP:0001508HP:0001508Failure to thrive0GMNN CL E G H5105317493OMIM:616835Meier-Gorlin syndrome 63
HP:0001508HP:0001508Failure to thrive0GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare36
HP:0001508HP:0001508Failure to thrive0GNB1 CL E G H27824396ORPHA:488613Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndromeHP:0040282 - Frequent12
HP:0001508HP:0001508Failure to thrive0GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 42.12
HP:0001508HP:0001508Failure to thrive0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001508HP:0001508Failure to thrive0GNPAT CL E G H84434416OMIM:222765Rhizomelic chondrodysplasia punctata, type 2.58
HP:0001508HP:0001508Failure to thrive0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta.240
HP:0001508HP:0001508Failure to thrive0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional8
HP:0001508HP:0001508Failure to thrive0GPIHBP1 CL E G H33832824945OMIM:615947Hyperlipoproteinemia, type ID.12
HP:0001508HP:0001508Failure to thrive0GPR161 CL E G H2343223694ORPHA:95496Pituitary stalk interruption syndromeHP:0040281 - Very frequent2
HP:0001508HP:0001508Failure to thrive0GPT2 CL E G H8470618062OMIM:616281Mental retardation, autosomal recessive 49.4
HP:0001508HP:0001508Failure to thrive0GPT2 CL E G H8470618062ORPHA:477673Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndromeHP:0040283 - Occasional4
HP:0001508HP:0001508Failure to thrive0GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7HP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0GRIA4 CL E G H28934574OMIM:617864Neurodevelopmental disorder with or without seizures and gait abnormalities.
HP:0001508HP:0001508Failure to thrive0GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare108
HP:0001508HP:0001508Failure to thrive0GRIN2D CL E G H29064588OMIM:617162Epileptic encephalopathy, early infantile, 46.2
HP:0001508HP:0001508Failure to thrive0GRIN2D CL E G H29064588ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent2
HP:0001508HP:0001508Failure to thrive0GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare5
HP:0001508HP:0001508Failure to thrive0GRM7 CL E G H29174599OMIM:618922NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA5
HP:0001508HP:0001508Failure to thrive0GSTM3 CL E G H29474635ORPHA:586Cystic fibrosis1
HP:0001508HP:0001508Failure to thrive0GTF2H5 CL E G H40467221157OMIM:616395Trichothiodystrophy 3, photosensitive3
HP:0001508HP:0001508Failure to thrive0GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0001508HP:0001508Failure to thrive0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0001508HP:0001508Failure to thrive0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0001508HP:0001508Failure to thrive0GTPBP2 CL E G H546764670OMIM:617988Jaberi-Elahi syndromeHP:0040284 - Very rare
HP:0001508HP:0001508Failure to thrive0GTPBP3 CL E G H8470514880ORPHA:444013Combined oxidative phosphorylation defect type 23HP:0040283 - Occasional30
HP:0001508HP:0001508Failure to thrive0GYS2 CL E G H29984707ORPHA:2089Glycogen storage disease due to hepatic glycogen synthase deficiencyHP:0040283 - Occasional100
HP:0001508HP:0001508Failure to thrive0H19 CL E G H2831204713ORPHA:231144Silver-Russell syndrome due to 11p15 microduplicationHP:0040282 - Frequent4
HP:0001508HP:0001508Failure to thrive0H3-3B CL E G H30214765OMIM:619721BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0001508HP:0001508Failure to thrive0H4C5 CL E G H83674790OMIM:619950
HP:0001508HP:0001508Failure to thrive0HACD1 CL E G H92009639ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent2
HP:0001508HP:0001508Failure to thrive0HADH CL E G H30334799ORPHA:71212Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiencyHP:0040283 - Occasional41
HP:0001508HP:0001508Failure to thrive0HADHA CL E G H30304801ORPHA:5Long chain 3-hydroxyacyl-CoA dehydrogenase deficiencyHP:0040283 - Occasional99
HP:0001508HP:0001508Failure to thrive0HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiency99
HP:0001508HP:0001508Failure to thrive0HADHA CL E G H30304801OMIM:609015Mitochondrial trifunctional protein deficiency99
HP:0001508HP:0001508Failure to thrive0HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiency60
HP:0001508HP:0001508Failure to thrive0HADHB CL E G H30324803OMIM:609015Mitochondrial trifunctional protein deficiency60
HP:0001508HP:0001508Failure to thrive0HBA1 CL E G H30394823ORPHA:98791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16HP:0040282 - Frequent200
HP:0001508HP:0001508Failure to thrive0HBA2 CL E G H30404824ORPHA:98791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16HP:0040282 - Frequent88
HP:0001508HP:0001508Failure to thrive0HBB CL E G H30434827ORPHA:231214Beta-thalassemia major580
HP:0001508HP:0001508Failure to thrive0HBB CL E G H30434827ORPHA:231226Dominant beta-thalassemia580
HP:0001508HP:0001508Failure to thrive0HCCS CL E G H30524837ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional11
HP:0001508HP:0001508Failure to thrive0HCFC1 CL E G H30544839OMIM:309541Methylmalonic acidemia and homocysteinemia, Cblx type.100
HP:0001508HP:0001508Failure to thrive0HCN1 CL E G H3489804845ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent54
HP:0001508HP:0001508Failure to thrive0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent37
HP:0001508HP:0001508Failure to thrive0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0001508HP:0001508Failure to thrive0HESX1 CL E G H88204877ORPHA:95496Pituitary stalk interruption syndromeHP:0040281 - Very frequent21
HP:0001508HP:0001508Failure to thrive0HEXB CL E G H30744879ORPHA:309162Sandhoff disease, juvenile form80
HP:0001508HP:0001508Failure to thrive0HFE CL E G H30774886ORPHA:586Cystic fibrosis38
HP:0001508HP:0001508Failure to thrive0HIBCH CL E G H262754908ORPHA:88639Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiencyHP:0040282 - Frequent32
HP:0001508HP:0001508Failure to thrive0HIKESHI CL E G H5150126938OMIM:616881Leukodystrophy, hypomyelinating, 13.3
HP:0001508HP:0001508Failure to thrive0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional3
HP:0001508HP:0001508Failure to thrive0HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 4313
HP:0001508HP:0001508Failure to thrive0HLA-DQA1 CL E G H31174942OMIM:212750Celiac disease, susceptibility to, 1.
HP:0001508HP:0001508Failure to thrive0HLA-DQB1 CL E G H31194944OMIM:212750Celiac disease, susceptibility to, 1.
HP:0001508HP:0001508Failure to thrive0HMGA2 CL E G H80915009ORPHA:9406312q14 microdeletion syndromeHP:0040281 - Very frequent2
HP:0001508HP:0001508Failure to thrive0HMOX1 CL E G H31625013ORPHA:586Cystic fibrosis3
HP:0001508HP:0001508Failure to thrive0HNRNPH1 CL E G H31875041OMIM:620083
HP:0001508HP:0001508Failure to thrive0HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0001508HP:0001508Failure to thrive0HPD CL E G H32425147ORPHA:2118HawkinsinuriaHP:0040281 - Very frequent23
HP:0001508HP:0001508Failure to thrive0HPD CL E G H32425147OMIM:140350HAWKINSINURIA.23
HP:0001508HP:0001508Failure to thrive0HPDL CL E G H8484228242OMIM:619026NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0001508HP:0001508Failure to thrive0HRAS CL E G H32655173OMIM:218040Costello syndrome.113
HP:0001508HP:0001508Failure to thrive0HRAS CL E G H32655173ORPHA:3071Costello syndrome113
HP:0001508HP:0001508Failure to thrive0HSD11B2 CL E G H32915209OMIM:218030Apparent mineralocorticoid excess.14
HP:0001508HP:0001508Failure to thrive0HSD11B2 CL E G H32915209ORPHA:320Apparent mineralocorticoid excessHP:0040282 - Frequent14
HP:0001508HP:0001508Failure to thrive0HSD17B4 CL E G H32955213OMIM:261515D-bifunctional protein deficiency98
HP:0001508HP:0001508Failure to thrive0HSD3B2 CL E G H32845218ORPHA:90791Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiencyHP:0040283 - Occasional34
HP:0001508HP:0001508Failure to thrive0HSD3B7 CL E G H8027018324OMIM:607765Bile acid synthesis defect, congenital, 1.26
HP:0001508HP:0001508Failure to thrive0HSD3B7 CL E G H8027018324ORPHA:79301Congenital bile acid synthesis defect type 1HP:0040281 - Very frequent26
HP:0001508HP:0001508Failure to thrive0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent345
HP:0001508HP:0001508Failure to thrive0HTRA2 CL E G H2742914348OMIM:6172483-methylglutaconic aciduria, type VIII39
HP:0001508HP:0001508Failure to thrive0HYMAI CL E G H570615326OMIM:601410Diabetes mellitus, transient neonatal, 1
HP:0001508HP:0001508Failure to thrive0HYMAI CL E G H570615326ORPHA:99886Transient neonatal diabetes mellitusHP:0040283 - Occasional
HP:0001508HP:0001508Failure to thrive0IARS1 CL E G H33765330OMIM:617093Growth retardation, impaired intellectual development, hypotonia, and hepatopathy.
HP:0001508HP:0001508Failure to thrive0ICOS CL E G H298515351ORPHA:1572Common variable immunodeficiency32
HP:0001508HP:0001508Failure to thrive0IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0001508HP:0001508Failure to thrive0IFNG CL E G H34585438OMIM:618963IMMUNODEFICIENCY 69; IMD6923
HP:0001508HP:0001508Failure to thrive0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0001508HP:0001508Failure to thrive0IGF1 CL E G H34795464ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiencyHP:0040281 - Very frequent91
HP:0001508HP:0001508Failure to thrive0IGF2 CL E G H34815466ORPHA:231144Silver-Russell syndrome due to 11p15 microduplicationHP:0040282 - Frequent9
HP:0001508HP:0001508Failure to thrive0IGHM CL E G H35075541OMIM:601495Agammaglobulinemia 1, autosomal recessive.7
HP:0001508HP:0001508Failure to thrive0IGHM CL E G H35075541ORPHA:33110Autosomal agammaglobulinemiaHP:0040282 - Frequent7
HP:0001508HP:0001508Failure to thrive0IGHMBP2 CL E G H35085542OMIM:604320Spinal muscular atrophy, distal, autosomal recessive, 1.209
HP:0001508HP:0001508Failure to thrive0IGLL1 CL E G H35435870ORPHA:33110Autosomal agammaglobulinemiaHP:0040282 - Frequent3
HP:0001508HP:0001508Failure to thrive0IKBKB CL E G H35515960OMIM:615592Immunodeficiency 15.4
HP:0001508HP:0001508Failure to thrive0IL1RN CL E G H35576000OMIM:612852Interleukin 1 receptor antagonist deficiency40
HP:0001508HP:0001508Failure to thrive0IL21 CL E G H590676005OMIM:615767IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID113
HP:0001508HP:0001508Failure to thrive0IL21R CL E G H506156006OMIM:615207IMMUNODEFICIENCY 56; IMD567
HP:0001508HP:0001508Failure to thrive0IL2RA CL E G H35596008OMIM:606367IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD4165
HP:0001508HP:0001508Failure to thrive0IL2RA CL E G H35596008ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040282 - Frequent65
HP:0001508HP:0001508Failure to thrive0IL2RB CL E G H35606009OMIM:618495Immunodeficiency 63 with lymphoproliferation and autoimmunity.
HP:0001508HP:0001508Failure to thrive0IL2RB CL E G H35606009ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0IL2RG CL E G H35616010ORPHA:39041Omenn syndromeHP:0040281 - Very frequent48
HP:0001508HP:0001508Failure to thrive0IL2RG CL E G H35616010OMIM:300400Severe combined immunodeficiency, X-linked48
HP:0001508HP:0001508Failure to thrive0IL2RG CL E G H35616010ORPHA:276T-B+ severe combined immunodeficiency due to gamma chain deficiencyHP:0040283 - Occasional48
HP:0001508HP:0001508Failure to thrive0IL7R CL E G H35756024ORPHA:39041Omenn syndromeHP:0040281 - Very frequent94
HP:0001508HP:0001508Failure to thrive0IL7R CL E G H35756024OMIM:608971Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive94
HP:0001508HP:0001508Failure to thrive0IL7R CL E G H35756024ORPHA:169154T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiencyHP:0040282 - Frequent94
HP:0001508HP:0001508Failure to thrive0INS CL E G H36306081ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040281 - Very frequent62
HP:0001508HP:0001508Failure to thrive0INSR CL E G H36436091OMIM:246200Donohue syndrome229
HP:0001508HP:0001508Failure to thrive0INSR CL E G H36436091ORPHA:508LeprechaunismHP:0040282 - Frequent229
HP:0001508HP:0001508Failure to thrive0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0001508HP:0001508Failure to thrive0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0001508HP:0001508Failure to thrive0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndrome119
HP:0001508HP:0001508Failure to thrive0IRF2BP2 CL E G H35994821729ORPHA:1572Common variable immunodeficiency4
HP:0001508HP:0001508Failure to thrive0IRF8 CL E G H33945358OMIM:226990Immunodeficiency 32B5
HP:0001508HP:0001508Failure to thrive0ITCH CL E G H8373713890OMIM:613385AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD3
HP:0001508HP:0001508Failure to thrive0ITCH CL E G H8373713890ORPHA:228426Syndromic multisystem autoimmune disease due to Itch deficiency3
HP:0001508HP:0001508Failure to thrive0ITGA7 CL E G H36796143ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent127
HP:0001508HP:0001508Failure to thrive0JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1.257
HP:0001508HP:0001508Failure to thrive0JAGN1 CL E G H8452226926OMIM:616022Neutropenia, severe congenital, 6, autosomal recessiveHP:0040283 - Occasional8
HP:0001508HP:0001508Failure to thrive0JAK1 CL E G H37166190OMIM:618999AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE12
HP:0001508HP:0001508Failure to thrive0JAK3 CL E G H37186193OMIM:600802Scid, autosomal recessive, T-Negative/b-Positive type140
HP:0001508HP:0001508Failure to thrive0JAK3 CL E G H37186193ORPHA:35078T-B+ severe combined immunodeficiency due to JAK3 deficiency140
HP:0001508HP:0001508Failure to thrive0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional2
HP:0001508HP:0001508Failure to thrive0KANSL1 CL E G H28405824565OMIM:610443Koolen-De Vries syndrome.283
HP:0001508HP:0001508Failure to thrive0KARS1 CL E G H37356215OMIM:619147LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0001508HP:0001508Failure to thrive0KAT6B CL E G H2352217582ORPHA:3047Blepharophimosis-intellectual disability syndrome, SBBYS typeHP:0040282 - Frequent141
HP:0001508HP:0001508Failure to thrive0KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare145
HP:0001508HP:0001508Failure to thrive0KCNA2 CL E G H37376220ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent13
HP:0001508HP:0001508Failure to thrive0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent1
HP:0001508HP:0001508Failure to thrive0KCNB1 CL E G H37456231ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent65
HP:0001508HP:0001508Failure to thrive0KCNJ1 CL E G H37586255OMIM:241200Bartter syndrome, antenatal, type 2.51
HP:0001508HP:0001508Failure to thrive0KCNJ11 CL E G H37676257ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040281 - Very frequent127
HP:0001508HP:0001508Failure to thrive0KCNJ11 CL E G H37676257ORPHA:99886Transient neonatal diabetes mellitusHP:0040283 - Occasional127
HP:0001508HP:0001508Failure to thrive0KCNJ6 CL E G H37636267ORPHA:435628Keppen-Lubinsky syndromeHP:0040282 - Frequent3
HP:0001508HP:0001508Failure to thrive0KCNJ6 CL E G H37636267OMIM:614098Keppen-Lubinsky syndrome.3
HP:0001508HP:0001508Failure to thrive0KCNN4 CL E G H37836293ORPHA:586Cystic fibrosis3
HP:0001508HP:0001508Failure to thrive0KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type81
HP:0001508HP:0001508Failure to thrive0KDM6A CL E G H740312637ORPHA:2322Kabuki syndromeHP:0040282 - Frequent53
HP:0001508HP:0001508Failure to thrive0KIAA0586 CL E G H978619960ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040282 - Frequent24
HP:0001508HP:0001508Failure to thrive0KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent4
HP:0001508HP:0001508Failure to thrive0KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndrome
HP:0001508HP:0001508Failure to thrive0KIF1B CL E G H2309516636OMIM:256700Neuroblastoma, susceptibility to.202
HP:0001508HP:0001508Failure to thrive0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0001508HP:0001508Failure to thrive0KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent167
HP:0001508HP:0001508Failure to thrive0KLLN CL E G H10014474837212ORPHA:201Cowden syndromeHP:0040283 - Occasional1
HP:0001508HP:0001508Failure to thrive0KMT2A CL E G H42977132OMIM:605130Wiedemann-Steiner syndrome.91
HP:0001508HP:0001508Failure to thrive0KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndromeHP:0040283 - Occasional91
HP:0001508HP:0001508Failure to thrive0KMT2C CL E G H5850813726ORPHA:261652Kleefstra syndrome due to a point mutationHP:0040283 - Occasional99
HP:0001508HP:0001508Failure to thrive0KMT2D CL E G H80857133ORPHA:2322Kabuki syndromeHP:0040282 - Frequent660
HP:0001508HP:0001508Failure to thrive0KMT5B CL E G H5111124283OMIM:617788Mental retardation, autosomal dominant 512
HP:0001508HP:0001508Failure to thrive0KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndrome196
HP:0001508HP:0001508Failure to thrive0KRAS CL E G H38456407ORPHA:3339Toriello-Lacassie-Droste syndromeHP:0040282 - Frequent196
HP:0001508HP:0001508Failure to thrive0KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040283 - Occasional110
HP:0001508HP:0001508Failure to thrive0KRT14 CL E G H38616416ORPHA:89838Autosomal recessive generalized epidermolysis bullosa simplexHP:0040283 - Occasional110
HP:0001508HP:0001508Failure to thrive0KRT16 CL E G H38686423ORPHA:2309Pachyonychia congenitaHP:0040283 - Occasional27
HP:0001508HP:0001508Failure to thrive0KRT17 CL E G H38726427ORPHA:2309Pachyonychia congenitaHP:0040283 - Occasional23
HP:0001508HP:0001508Failure to thrive0KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040283 - Occasional173
HP:0001508HP:0001508Failure to thrive0KRT6A CL E G H38536443ORPHA:2309Pachyonychia congenitaHP:0040283 - Occasional41
HP:0001508HP:0001508Failure to thrive0KRT6B CL E G H38546444ORPHA:2309Pachyonychia congenitaHP:0040283 - Occasional4
HP:0001508HP:0001508Failure to thrive0LAMA3 CL E G H39096483OMIM:226700Epidermolysis bullosa, junctional, Herlitz type.116
HP:0001508HP:0001508Failure to thrive0LAMA3 CL E G H39096483ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040281 - Very frequent116
HP:0001508HP:0001508Failure to thrive0LAMB3 CL E G H39146490OMIM:226700Epidermolysis bullosa, junctional, Herlitz type.167
HP:0001508HP:0001508Failure to thrive0LAMB3 CL E G H39146490ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040281 - Very frequent167
HP:0001508HP:0001508Failure to thrive0LAMC2 CL E G H39186493OMIM:226700Epidermolysis bullosa, junctional, Herlitz type.135
HP:0001508HP:0001508Failure to thrive0LAMC2 CL E G H39186493ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040281 - Very frequent135
HP:0001508HP:0001508Failure to thrive0LARS1 CL E G H515206512OMIM:615438Infantile liver failure syndrome 1
HP:0001508HP:0001508Failure to thrive0LAT CL E G H2704018874OMIM:617514Immunodeficiency 52.2
HP:0001508HP:0001508Failure to thrive0LBR CL E G H39306518OMIM:169400Pelger-Huet anomaly70
HP:0001508HP:0001508Failure to thrive0LCK CL E G H39326524OMIM:615758Immunodeficiency 22.1
HP:0001508HP:0001508Failure to thrive0LEMD3 CL E G H2359228887ORPHA:9406312q14 microdeletion syndromeHP:0040281 - Very frequent68
HP:0001508HP:0001508Failure to thrive0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0001508HP:0001508Failure to thrive0LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent2
HP:0001508HP:0001508Failure to thrive0LGI3 CL E G H20319018711OMIM:620007
HP:0001508HP:0001508Failure to thrive0LHX4 CL E G H8988421734ORPHA:95496Pituitary stalk interruption syndromeHP:0040281 - Very frequent43
HP:0001508HP:0001508Failure to thrive0LIG4 CL E G H39816601OMIM:606593Lig4 syndrome.88
HP:0001508HP:0001508Failure to thrive0LIG4 CL E G H39816601ORPHA:39041Omenn syndromeHP:0040281 - Very frequent88
HP:0001508HP:0001508Failure to thrive0LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0001508HP:0001508Failure to thrive0LINS1 CL E G H5518030922OMIM:614340Mental retardation, autosomal recessive 2725
HP:0001508HP:0001508Failure to thrive0LIPA CL E G H39886617OMIM:278000Lysosomal acid lipase deficiency73
HP:0001508HP:0001508Failure to thrive0LIPT1 CL E G H5160129569ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent21
HP:0001508HP:0001508Failure to thrive0LMBRD1 CL E G H5578823038ORPHA:79284Methylmalonic acidemia with homocystinuria type cblFHP:0040282 - Frequent46
HP:0001508HP:0001508Failure to thrive0LMBRD1 CL E G H5578823038OMIM:277380Methylmalonic aciduria and homocystinuria, Cblf type.46
HP:0001508HP:0001508Failure to thrive0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040281 - Very frequent645
HP:0001508HP:0001508Failure to thrive0LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndrome645
HP:0001508HP:0001508Failure to thrive0LMNA CL E G H40006636OMIM:613205Muscular dystrophy, congenital, lmna-related.645
HP:0001508HP:0001508Failure to thrive0LMNB1 CL E G H40016637OMIM:619179MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH2644
HP:0001508HP:0001508Failure to thrive0LPIN2 CL E G H966314450ORPHA:77297Majeed syndromeHP:0040282 - Frequent186
HP:0001508HP:0001508Failure to thrive0LPIN2 CL E G H966314450OMIM:609628MAJEED SYNDROME; MJDS186
HP:0001508HP:0001508Failure to thrive0LRBA CL E G H9871742OMIM:614700IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID845
HP:0001508HP:0001508Failure to thrive0LRPPRC CL E G H1012815714ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean typeHP:0040281 - Very frequent191
HP:0001508HP:0001508Failure to thrive0LRPPRC CL E G H1012815714OMIM:220111Leigh syndrome, french Canadian type.191
HP:0001508HP:0001508Failure to thrive0LRRC8A CL E G H5626219027ORPHA:33110Autosomal agammaglobulinemiaHP:0040282 - Frequent3
HP:0001508HP:0001508Failure to thrive0LRRK1 CL E G H7970518608OMIM:615198Osteosclerotic metaphyseal dysplasia1
HP:0001508HP:0001508Failure to thrive0LTC4S CL E G H40566719OMIM:614037LEUKOTRIENE C4 SYNTHASE DEFICIENCY1
HP:0001508HP:0001508Failure to thrive0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0001508HP:0001508Failure to thrive0LYRM4 CL E G H5712821365OMIM:615595Combined oxidative phosphorylation deficiency 19.4
HP:0001508HP:0001508Failure to thrive0LYRM7 CL E G H9062428072OMIM:615838Mitochondrial complex III deficiency, nuclear type 8.10
HP:0001508HP:0001508Failure to thrive0MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndromeHP:0040282 - Frequent63
HP:0001508HP:0001508Failure to thrive0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0001508HP:0001508Failure to thrive0MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent63
HP:0001508HP:0001508Failure to thrive0MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent63
HP:0001508HP:0001508Failure to thrive0MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent63
HP:0001508HP:0001508Failure to thrive0MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome63
HP:0001508HP:0001508Failure to thrive0MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndrome134
HP:0001508HP:0001508Failure to thrive0MAP2K1 CL E G H56046840OMIM:615279Cardiofaciocutaneous syndrome 3134
HP:0001508HP:0001508Failure to thrive0MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1134
HP:0001508HP:0001508Failure to thrive0MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndrome178
HP:0001508HP:0001508Failure to thrive0MAP3K20 CL E G H5177617797ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent2
HP:0001508HP:0001508Failure to thrive0MAP3K7 CL E G H68856859OMIM:157800Cardiospondylocarpofacial syndrome.11
HP:0001508HP:0001508Failure to thrive0MAPKAPK5 CL E G H85506889OMIM:619869
HP:0001508HP:0001508Failure to thrive0MARS1 CL E G H41416898OMIM:615486Interstitial lung and liver disease.
HP:0001508HP:0001508Failure to thrive0MBL2 CL E G H41536922OMIM:614372Mannose-Binding lectin deficiency54
HP:0001508HP:0001508Failure to thrive0MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndromeHP:0040282 - Frequent22
HP:0001508HP:0001508Failure to thrive0MC2R CL E G H41586930ORPHA:361Familial glucocorticoid deficiencyHP:0040281 - Very frequent94
HP:0001508HP:0001508Failure to thrive0MC2R CL E G H41586930OMIM:202200Glucocorticoid deficiency 1.94
HP:0001508HP:0001508Failure to thrive0MCCC1 CL E G H569226936OMIM:2102003-Methylcrotonyl-CoA carboxylase 1 deficiency.81
HP:0001508HP:0001508Failure to thrive0MCCC1 CL E G H569226936ORPHA:63-methylcrotonyl-CoA carboxylase deficiency81
HP:0001508HP:0001508Failure to thrive0MCCC2 CL E G H640876937OMIM:2102103-Methylcrotonyl-CoA carboxylase 2 deficiency.77
HP:0001508HP:0001508Failure to thrive0MCCC2 CL E G H640876937ORPHA:63-methylcrotonyl-CoA carboxylase deficiency77
HP:0001508HP:0001508Failure to thrive0MCEE CL E G H8469316732OMIM:251120Methylmalonyl-Coa epimerase deficiency.19
HP:0001508HP:0001508Failure to thrive0MCM4 CL E G H41736947OMIM:609981Immunodeficiency 5469
HP:0001508HP:0001508Failure to thrive0MCTP2 CL E G H5578425636ORPHA:1596Distal monosomy 15qHP:0040282 - Frequent3
HP:0001508HP:0001508Failure to thrive0MDH2 CL E G H41916971OMIM:617339Epileptic encephalopathy, early infantile, 51.4
HP:0001508HP:0001508Failure to thrive0MECP2 CL E G H42046990OMIM:300673Encephalopathy, neonatal severe, due to mecp2 mutations.950
HP:0001508HP:0001508Failure to thrive0MECP2 CL E G H42046990ORPHA:778Rett syndromeHP:0040282 - Frequent950
HP:0001508HP:0001508Failure to thrive0MECR CL E G H5110219691OMIM:617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities6
HP:0001508HP:0001508Failure to thrive0MECR CL E G H5110219691ORPHA:508093MEPAN syndrome6
HP:0001508HP:0001508Failure to thrive0MED12 CL E G H996811957OMIM:301068HARDIKAR SYNDROME; HDKR228
HP:0001508HP:0001508Failure to thrive0MED17 CL E G H94402375OMIM:613668Microcephaly, postnatal progressive, with seizures and brain atrophy.23
HP:0001508HP:0001508Failure to thrive0MEGF10 CL E G H8446629634OMIM:614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset.158
HP:0001508HP:0001508Failure to thrive0METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0001508HP:0001508Failure to thrive0MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa.39
HP:0001508HP:0001508Failure to thrive0MGAT2 CL E G H42477045ORPHA:79329MGAT2-CDGHP:0040282 - Frequent39
HP:0001508HP:0001508Failure to thrive0MICOS13 CL E G H12598833702OMIM:618329COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0001508HP:0001508Failure to thrive0MIF CL E G H42827097ORPHA:586Cystic fibrosis1
HP:0001508HP:0001508Failure to thrive0MIPEP CL E G H42857104OMIM:617228Combined oxidative phosphorylation deficiency 31.7
HP:0001508HP:0001508Failure to thrive0MKKS CL E G H81957108ORPHA:2473McKusick-Kaufman syndromeHP:0040283 - Occasional69
HP:0001508HP:0001508Failure to thrive0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0001508HP:0001508Failure to thrive0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0001508HP:0001508Failure to thrive0MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0001508HP:0001508Failure to thrive0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0001508HP:0001508Failure to thrive0MMAA CL E G H16678518871OMIM:251100Methylmalonic aciduria, Cbla type.113
HP:0001508HP:0001508Failure to thrive0MMAB CL E G H32662519331OMIM:251110Methylmalonic aciduria, Cblb type.127
HP:0001508HP:0001508Failure to thrive0MMACHC CL E G H2597424525ORPHA:79282Methylmalonic acidemia with homocystinuria, type cblCHP:0040282 - Frequent101
HP:0001508HP:0001508Failure to thrive0MMACHC CL E G H2597424525OMIM:277400Methylmalonic aciduria and homocystinuria, Cblc type.101
HP:0001508HP:0001508Failure to thrive0MMADHC CL E G H2724925221ORPHA:79283Methylmalonic acidemia with homocystinuria, type cblDHP:0040281 - Very frequent50
HP:0001508HP:0001508Failure to thrive0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0001508HP:0001508Failure to thrive0MMUT CL E G H45947526OMIM:251000Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency.
HP:0001508HP:0001508Failure to thrive0MMUT CL E G H45947526ORPHA:79312Vitamin B12-unresponsive methylmalonic acidemia type mut-HP:0040281 - Very frequent
HP:0001508HP:0001508Failure to thrive0MPDU1 CL E G H95267207OMIM:609180Congenital disorder of glycosylation, type IF.32
HP:0001508HP:0001508Failure to thrive0MPI CL E G H43517216OMIM:602579Congenital disorder of glycosylation, type Ib.51
HP:0001508HP:0001508Failure to thrive0MPI CL E G H43517216ORPHA:79319MPI-CDGHP:0040282 - Frequent51
HP:0001508HP:0001508Failure to thrive0MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy.56
HP:0001508HP:0001508Failure to thrive0MRAP CL E G H562461304ORPHA:361Familial glucocorticoid deficiencyHP:0040281 - Very frequent26
HP:0001508HP:0001508Failure to thrive0MRPL12 CL E G H618210378OMIM:618951COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD4511
HP:0001508HP:0001508Failure to thrive0MRPL3 CL E G H1122210379OMIM:614582COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD913
HP:0001508HP:0001508Failure to thrive0MRPS14 CL E G H6393114049OMIM:618378Combined oxidative phosphorylation deficiency 38.
HP:0001508HP:0001508Failure to thrive0MRPS2 CL E G H5111614495OMIM:617950Combined oxidative phosphorylation deficiency 36.
HP:0001508HP:0001508Failure to thrive0MRPS28 CL E G H2895714513OMIM:618958COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0001508HP:0001508Failure to thrive0MRPS7 CL E G H5108114499OMIM:617872Combined oxidative phosphorylation deficiency 34.12
HP:0001508HP:0001508Failure to thrive0MS4A1 CL E G H9317315ORPHA:1572Common variable immunodeficiency1
HP:0001508HP:0001508Failure to thrive0MSMO1 CL E G H630710545OMIM:616834Microcephaly, congenital cataract, and psoriasiform dermatitis3
HP:0001508HP:0001508Failure to thrive0MTFMT CL E G H12326329666ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent29
HP:0001508HP:0001508Failure to thrive0MTHFR CL E G H45247436ORPHA:395Homocystinuria due to methylene tetrahydrofolate reductase deficiencyHP:0040283 - Occasional183
HP:0001508HP:0001508Failure to thrive0MTO1 CL E G H2582119261OMIM:614702Combined oxidative phosphorylation deficiency 10.39
HP:0001508HP:0001508Failure to thrive0MTR CL E G H45487468OMIM:250940Homocystinuria-megaloblastic anemia, cblg Complementation type.217
HP:0001508HP:0001508Failure to thrive0MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7HP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0MTRFR CL E G H9157426784OMIM:613559Combined oxidative phosphorylation deficiency 7.
HP:0001508HP:0001508Failure to thrive0MTRR CL E G H45527473OMIM:236270Homocystinuria-megaloblastic anemia, cbl E type.88
HP:0001508HP:0001508Failure to thrive0MTRR CL E G H45527473ORPHA:2169Methylcobalamin deficiency type cblEHP:0040282 - Frequent88
HP:0001508HP:0001508Failure to thrive0MTTP CL E G H45477467ORPHA:14AbetalipoproteinemiaHP:0040282 - Frequent81
HP:0001508HP:0001508Failure to thrive0MVK CL E G H45987530OMIM:610377Mevalonic aciduria150
HP:0001508HP:0001508Failure to thrive0MYH3 CL E G H46217573OMIM:193700Arthrogryposis, distal, type 2A.166
HP:0001508HP:0001508Failure to thrive0MYH3 CL E G H46217573ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040283 - Occasional166
HP:0001508HP:0001508Failure to thrive0MYH3 CL E G H46217573ORPHA:2053Freeman-Sheldon syndromeHP:0040281 - Very frequent166
HP:0001508HP:0001508Failure to thrive0MYH7 CL E G H46257577ORPHA:324604Classic multiminicore myopathyHP:0040282 - Frequent1269
HP:0001508HP:0001508Failure to thrive0MYH7 CL E G H46257577OMIM:255310Myopathy, congenital, with fiber-type disproportion.1269
HP:0001508HP:0001508Failure to thrive0MYL2 CL E G H46337583ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent131
HP:0001508HP:0001508Failure to thrive0MYMK CL E G H38982733778OMIM:254940Carey-Fineman-Ziter syndrome.5
HP:0001508HP:0001508Failure to thrive0MYMX CL E G H10192972652391OMIM:619941
HP:0001508HP:0001508Failure to thrive0MYO5B CL E G H46457603OMIM:619868192
HP:0001508HP:0001508Failure to thrive0MYOD1 CL E G H46547611OMIM:618975MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0001508HP:0001508Failure to thrive0NACC1 CL E G H11293920967OMIM:617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination.1
HP:0001508HP:0001508Failure to thrive0NACC1 CL E G H11293920967ORPHA:500545Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataractHP:0040281 - Very frequent1
HP:0001508HP:0001508Failure to thrive0NADK2 CL E G H13368626404OMIM:6160342,4-Dienoyl-Coa reductase deficiency.14
HP:0001508HP:0001508Failure to thrive0NADK2 CL E G H13368626404ORPHA:431361Progressive encephalopathy with leukodystrophy due to DECR deficiencyHP:0040282 - Frequent14
HP:0001508HP:0001508Failure to thrive0NAGS CL E G H16241717996ORPHA:927Hyperammonemia due to N-acetylglutamate synthase deficiencyHP:0040283 - Occasional36
HP:0001508HP:0001508Failure to thrive0NAGS CL E G H16241717996OMIM:237310N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY.36
HP:0001508HP:0001508Failure to thrive0NALCN CL E G H25923219082ORPHA:2053Freeman-Sheldon syndromeHP:0040281 - Very frequent48
HP:0001508HP:0001508Failure to thrive0NALCN CL E G H25923219082ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndrome48
HP:0001508HP:0001508Failure to thrive0NCAPG2 CL E G H5489221904OMIM:618460Khan-Khan-Katsanis syndrome.2
HP:0001508HP:0001508Failure to thrive0NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0001508HP:0001508Failure to thrive0ND1 CL E G H45357455ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0001508HP:0001508Failure to thrive0ND1 CL E G H45357455ORPHA:550MELASHP:0040283 - Occasional
HP:0001508HP:0001508Failure to thrive0ND1 CL E G H45357455ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0ND2 CL E G H45367456ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0001508HP:0001508Failure to thrive0ND2 CL E G H45367456ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0ND3 CL E G H45377458ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0001508HP:0001508Failure to thrive0ND3 CL E G H45377458ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0ND4 CL E G H45387459ORPHA:550MELASHP:0040283 - Occasional
HP:0001508HP:0001508Failure to thrive0ND4 CL E G H45387459ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0ND5 CL E G H45407461ORPHA:550MELASHP:0040283 - Occasional
HP:0001508HP:0001508Failure to thrive0ND5 CL E G H45407461ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0ND6 CL E G H45417462ORPHA:550MELASHP:0040283 - Occasional
HP:0001508HP:0001508Failure to thrive0ND6 CL E G H45417462ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0NDP CL E G H46937678ORPHA:649Norrie diseaseHP:0040283 - Occasional39
HP:0001508HP:0001508Failure to thrive0NDUFA1 CL E G H46947683ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent7
HP:0001508HP:0001508Failure to thrive0NDUFA10 CL E G H47057684ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent91
HP:0001508HP:0001508Failure to thrive0NDUFA11 CL E G H12632820371ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent32
HP:0001508HP:0001508Failure to thrive0NDUFA12 CL E G H5596723987ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent7
HP:0001508HP:0001508Failure to thrive0NDUFA13 CL E G H5107917194ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent3
HP:0001508HP:0001508Failure to thrive0NDUFA13 CL E G H5107917194OMIM:618249Mitochondrial complex I deficiency, nuclear type 28.3
HP:0001508HP:0001508Failure to thrive0NDUFA2 CL E G H46957685ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent19
HP:0001508HP:0001508Failure to thrive0NDUFA4 CL E G H46977687ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent4
HP:0001508HP:0001508Failure to thrive0NDUFA4 CL E G H46977687OMIM:619065MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN214
HP:0001508HP:0001508Failure to thrive0NDUFA6 CL E G H47007690ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent1
HP:0001508HP:0001508Failure to thrive0NDUFA8 CL E G H47027692OMIM:619272MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0001508HP:0001508Failure to thrive0NDUFA9 CL E G H47047693ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0001508HP:0001508Failure to thrive0NDUFAF1 CL E G H5110318828ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent40
HP:0001508HP:0001508Failure to thrive0NDUFAF1 CL E G H5110318828OMIM:618234Mitochondrial complex I deficiency, nuclear type 11.40
HP:0001508HP:0001508Failure to thrive0NDUFAF2 CL E G H9194228086ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent26
HP:0001508HP:0001508Failure to thrive0NDUFAF2 CL E G H9194228086ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent26
HP:0001508HP:0001508Failure to thrive0NDUFAF3 CL E G H2591529918ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent31
HP:0001508HP:0001508Failure to thrive0NDUFAF3 CL E G H2591529918ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent31
HP:0001508HP:0001508Failure to thrive0NDUFAF4 CL E G H2907821034ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent50
HP:0001508HP:0001508Failure to thrive0NDUFAF4 CL E G H2907821034OMIM:618237Mitochondrial complex I deficiency, nuclear type 15.50
HP:0001508HP:0001508Failure to thrive0NDUFAF5 CL E G H7913315899ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent34
HP:0001508HP:0001508Failure to thrive0NDUFAF5 CL E G H7913315899ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent34
HP:0001508HP:0001508Failure to thrive0NDUFAF5 CL E G H7913315899OMIM:618238Mitochondrial complex I deficiency, nuclear type 16.34
HP:0001508HP:0001508Failure to thrive0NDUFAF6 CL E G H13768228625ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent39
HP:0001508HP:0001508Failure to thrive0NDUFAF8 CL E G H28418433551ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0001508HP:0001508Failure to thrive0NDUFB10 CL E G H47167696ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0001508HP:0001508Failure to thrive0NDUFB11 CL E G H5453920372ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent3
HP:0001508HP:0001508Failure to thrive0NDUFB11 CL E G H5453920372OMIM:300952Linear skin defects with multiple congenital anomalies 3.3
HP:0001508HP:0001508Failure to thrive0NDUFB11 CL E G H5453920372ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional3
HP:0001508HP:0001508Failure to thrive0NDUFB3 CL E G H47097698ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent9
HP:0001508HP:0001508Failure to thrive0NDUFB3 CL E G H47097698OMIM:618246Mitochondrial complex I deficiency, nuclear type 25.9
HP:0001508HP:0001508Failure to thrive0NDUFB8 CL E G H47147703ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0NDUFB8 CL E G H47147703OMIM:618252Mitochondrial complex I deficiency, nuclear type 32.
HP:0001508HP:0001508Failure to thrive0NDUFB9 CL E G H47157704ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent16
HP:0001508HP:0001508Failure to thrive0NDUFS1 CL E G H47197707ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent81
HP:0001508HP:0001508Failure to thrive0NDUFS1 CL E G H47197707ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent81
HP:0001508HP:0001508Failure to thrive0NDUFS1 CL E G H47197707OMIM:618226Mitochondrial complex I deficiency, nuclear type 5.81
HP:0001508HP:0001508Failure to thrive0NDUFS2 CL E G H47207708ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent65
HP:0001508HP:0001508Failure to thrive0NDUFS2 CL E G H47207708ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent65
HP:0001508HP:0001508Failure to thrive0NDUFS2 CL E G H47207708ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent65
HP:0001508HP:0001508Failure to thrive0NDUFS2 CL E G H47207708OMIM:618228Mitochondrial complex I deficiency, nuclear type 6.65
HP:0001508HP:0001508Failure to thrive0NDUFS3 CL E G H47227710ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent22
HP:0001508HP:0001508Failure to thrive0NDUFS3 CL E G H47227710ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent22
HP:0001508HP:0001508Failure to thrive0NDUFS4 CL E G H47247711ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent27
HP:0001508HP:0001508Failure to thrive0NDUFS4 CL E G H47247711ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0001508HP:0001508Failure to thrive0NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 127
HP:0001508HP:0001508Failure to thrive0NDUFS6 CL E G H47267713ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent21
HP:0001508HP:0001508Failure to thrive0NDUFS7 CL E G H3742917714ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent38
HP:0001508HP:0001508Failure to thrive0NDUFS7 CL E G H3742917714ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent38
HP:0001508HP:0001508Failure to thrive0NDUFS8 CL E G H47287715ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent42
HP:0001508HP:0001508Failure to thrive0NDUFS8 CL E G H47287715ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent42
HP:0001508HP:0001508Failure to thrive0NDUFV1 CL E G H47237716ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent74
HP:0001508HP:0001508Failure to thrive0NDUFV1 CL E G H47237716ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent74
HP:0001508HP:0001508Failure to thrive0NDUFV2 CL E G H47297717ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent27
HP:0001508HP:0001508Failure to thrive0NDUFV2 CL E G H47297717ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0001508HP:0001508Failure to thrive0NDUFV2 CL E G H47297717OMIM:618229Mitochondrial complex I deficiency, nuclear type 7.27
HP:0001508HP:0001508Failure to thrive0NECAP1 CL E G H2597724539ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent1
HP:0001508HP:0001508Failure to thrive0NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent
HP:0001508HP:0001508Failure to thrive0NEUROD2 CL E G H47617763ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare
HP:0001508HP:0001508Failure to thrive0NEUROG3 CL E G H5067413806OMIM:610370Diarrhea 4, malabsorptive, congenital.5
HP:0001508HP:0001508Failure to thrive0NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0001508HP:0001508Failure to thrive0NFASC CL E G H2311429866OMIM:618356Neurodevelopmental disorder with central and peripheral motor dysfunction.
HP:0001508HP:0001508Failure to thrive0NFE2L2 CL E G H47807782OMIM:617744Immunodeficiency, developmental delay, and hypohomocysteinemia.20
HP:0001508HP:0001508Failure to thrive0NFIX CL E G H47847788ORPHA:561Marshall-Smith syndromeHP:0040281 - Very frequent40
HP:0001508HP:0001508Failure to thrive0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome.40
HP:0001508HP:0001508Failure to thrive0NFKB1 CL E G H47907794ORPHA:1572Common variable immunodeficiency7
HP:0001508HP:0001508Failure to thrive0NFKB2 CL E G H47917795ORPHA:1572Common variable immunodeficiency11
HP:0001508HP:0001508Failure to thrive0NFKB2 CL E G H47917795ORPHA:293978Deficiency in anterior pituitary function-variable immunodeficiency syndromeHP:0040283 - Occasional11
HP:0001508HP:0001508Failure to thrive0NFU1 CL E G H2724716287OMIM:605711Multiple mitochondrial dysfunctions syndrome 1.34
HP:0001508HP:0001508Failure to thrive0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040282 - Frequent32
HP:0001508HP:0001508Failure to thrive0NHLRC2 CL E G H37435424731OMIM:618278Fibrosis, neurodegeneration, and cerebral angiomatosis.
HP:0001508HP:0001508Failure to thrive0NIPAL4 CL E G H34893828018ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent60
HP:0001508HP:0001508Failure to thrive0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent494
HP:0001508HP:0001508Failure to thrive0NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndromeHP:0040283 - Occasional51
HP:0001508HP:0001508Failure to thrive0NLRC4 CL E G H5848416412OMIM:616050AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC30
HP:0001508HP:0001508Failure to thrive0NLRP1 CL E G H2286114374OMIM:617388AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK37
HP:0001508HP:0001508Failure to thrive0NNT CL E G H235307863ORPHA:361Familial glucocorticoid deficiencyHP:0040281 - Very frequent13
HP:0001508HP:0001508Failure to thrive0NNT CL E G H235307863OMIM:614736Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency.13
HP:0001508HP:0001508Failure to thrive0NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent45
HP:0001508HP:0001508Failure to thrive0NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent45
HP:0001508HP:0001508Failure to thrive0NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent45
HP:0001508HP:0001508Failure to thrive0NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent45
HP:0001508HP:0001508Failure to thrive0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndromeHP:0040283 - Occasional10
HP:0001508HP:0001508Failure to thrive0NOTCH1 CL E G H48517881ORPHA:974Adams-Oliver syndromeHP:0040281 - Very frequent452
HP:0001508HP:0001508Failure to thrive0NOTCH2 CL E G H48537882OMIM:102500Hajdu-Cheney syndrome.138
HP:0001508HP:0001508Failure to thrive0NOTCH2 CL E G H48537882ORPHA:955Hajdu-Cheney syndromeHP:0040283 - Occasional138
HP:0001508HP:0001508Failure to thrive0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0001508HP:0001508Failure to thrive0NR0B1 CL E G H1907960OMIM:300200Adrenal hypoplasia, congenital.48
HP:0001508HP:0001508Failure to thrive0NR1H4 CL E G H99717967OMIM:617049CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC514
HP:0001508HP:0001508Failure to thrive0NR3C2 CL E G H43067979OMIM:177735Pseudohypoaldosteronism, type I, autosomal dominant.109
HP:0001508HP:0001508Failure to thrive0NRCAM CL E G H48977994OMIM:6198332
HP:0001508HP:0001508Failure to thrive0NRTN CL E G H49028007ORPHA:388Hirschsprung disease4
HP:0001508HP:0001508Failure to thrive0NSD2 CL E G H746812766OMIM:619695RAUCH-STEINDL SYNDROME; RAUST118
HP:0001508HP:0001508Failure to thrive0NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent118
HP:0001508HP:0001508Failure to thrive0NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0001508HP:0001508Failure to thrive0NSMCE3 CL E G H561607677OMIM:617241LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS2
HP:0001508HP:0001508Failure to thrive0NSRP1 CL E G H8408125305OMIM:620001
HP:0001508HP:0001508Failure to thrive0NSUN3 CL E G H6389926208OMIM:619012COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0001508HP:0001508Failure to thrive0NTRK2 CL E G H49158032ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent8
HP:0001508HP:0001508Failure to thrive0NUBPL CL E G H8022420278ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent89
HP:0001508HP:0001508Failure to thrive0NUP214 CL E G H80218064OMIM:618426Encephalopathy, acute, infection-induced, susceptibility to, 9.1
HP:0001508HP:0001508Failure to thrive0NUP62 CL E G H236368066ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent7
HP:0001508HP:0001508Failure to thrive0NUP62 CL E G H236368066OMIM:271930Striatonigral degeneration, infantile.7
HP:0001508HP:0001508Failure to thrive0NUS1 CL E G H11615021042OMIM:617082Congenital disorder of glycosylation, type IAA.1
HP:0001508HP:0001508Failure to thrive0NUS1 CL E G H11615021042ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent1
HP:0001508HP:0001508Failure to thrive0OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent121
HP:0001508HP:0001508Failure to thrive0OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent121
HP:0001508HP:0001508Failure to thrive0OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent121
HP:0001508HP:0001508Failure to thrive0OCLN CL E G H1005066588104OMIM:251290Band-Like calcification with simplified gyration and polymicrogyria.23
HP:0001508HP:0001508Failure to thrive0OCRL CL E G H49528108OMIM:309000Lowe syndrome.88
HP:0001508HP:0001508Failure to thrive0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040282 - Frequent88
HP:0001508HP:0001508Failure to thrive0OFD1 CL E G H84812567ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent201
HP:0001508HP:0001508Failure to thrive0OGDHL CL E G H5575325590OMIM:619701YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN3
HP:0001508HP:0001508Failure to thrive0ORAI1 CL E G H8487625896OMIM:612782Immunodeficiency 9.19
HP:0001508HP:0001508Failure to thrive0ORC1 CL E G H49988487ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent53
HP:0001508HP:0001508Failure to thrive0ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 1.53
HP:0001508HP:0001508Failure to thrive0ORC4 CL E G H50008490ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent21
HP:0001508HP:0001508Failure to thrive0ORC4 CL E G H50008490OMIM:613800Meier-Gorlin syndrome 2.21
HP:0001508HP:0001508Failure to thrive0ORC6 CL E G H2359417151ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent39
HP:0001508HP:0001508Failure to thrive0ORC6 CL E G H2359417151OMIM:613803Meier-Gorlin syndrome 3.39
HP:0001508HP:0001508Failure to thrive0OSGEP CL E G H5564418028OMIM:617729Galloway-Mowat syndrome 3.
HP:0001508HP:0001508Failure to thrive0OTC CL E G H50098512OMIM:311250Ornithine transcarbamylase deficiency, hyperammonemia due to.369
HP:0001508HP:0001508Failure to thrive0OTUD6B CL E G H5163324281ORPHA:505237Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndromeHP:0040282 - Frequent4
HP:0001508HP:0001508Failure to thrive0OTUD6B CL E G H5163324281OMIM:617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies.4
HP:0001508HP:0001508Failure to thrive0OTULIN CL E G H9026825118OMIM:617099AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS3
HP:0001508HP:0001508Failure to thrive0PACS1 CL E G H5569030032ORPHA:329224Intellectual disability-craniofacial dysmorphism-cryptorchidism syndromeHP:0040282 - Frequent24
HP:0001508HP:0001508Failure to thrive0PARN CL E G H50738609OMIM:616353Dyskeratosis congenita, autosomal recessive 6.26
HP:0001508HP:0001508Failure to thrive0PARN CL E G H50738609ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040281 - Very frequent26
HP:0001508HP:0001508Failure to thrive0PARS2 CL E G H2597330563ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent14
HP:0001508HP:0001508Failure to thrive0PAX2 CL E G H50768616ORPHA:97362Renal hypoplasia, bilateral39
HP:0001508HP:0001508Failure to thrive0PBX1 CL E G H50878632ORPHA:97362Renal hypoplasia, bilateral3
HP:0001508HP:0001508Failure to thrive0PCCA CL E G H50958653OMIM:606054Propionic acidemia.96
HP:0001508HP:0001508Failure to thrive0PCCB CL E G H50968654OMIM:606054Propionic acidemia.92
HP:0001508HP:0001508Failure to thrive0PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome.
HP:0001508HP:0001508Failure to thrive0PCSK1 CL E G H51228743ORPHA:71528Obesity due to prohormone convertase I deficiencyHP:0040283 - Occasional65
HP:0001508HP:0001508Failure to thrive0PDE6D CL E G H51478788ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent1
HP:0001508HP:0001508Failure to thrive0PDHA1 CL E G H51608806ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent88
HP:0001508HP:0001508Failure to thrive0PDHX CL E G H805021350ORPHA:255182Pyruvate dehydrogenase E3-binding protein deficiencyHP:0040283 - Occasional98
HP:0001508HP:0001508Failure to thrive0PDPN CL E G H1063029602ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0001508HP:0001508Failure to thrive0PDX1 CL E G H36516107ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040281 - Very frequent30
HP:0001508HP:0001508Failure to thrive0PDX1 CL E G H36516107OMIM:260370Pancreatic agenesis, congenital.30
HP:0001508HP:0001508Failure to thrive0PEPD CL E G H51848840OMIM:170100Prolidase deficiency66
HP:0001508HP:0001508Failure to thrive0PERCC1 CL E G H10537104552293ORPHA:92050Congenital tufting enteropathyHP:0040281 - Very frequent
HP:0001508HP:0001508Failure to thrive0PET100 CL E G H10013180140038ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent6
HP:0001508HP:0001508Failure to thrive0PET100 CL E G H10013180140038OMIM:619055MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN126
HP:0001508HP:0001508Failure to thrive0PEX1 CL E G H51898850ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent169
HP:0001508HP:0001508Failure to thrive0PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger).169
HP:0001508HP:0001508Failure to thrive0PEX1 CL E G H51898850ORPHA:912Zellweger syndromeHP:0040281 - Very frequent169
HP:0001508HP:0001508Failure to thrive0PEX10 CL E G H51928851ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent75
HP:0001508HP:0001508Failure to thrive0PEX10 CL E G H51928851ORPHA:912Zellweger syndromeHP:0040281 - Very frequent75
HP:0001508HP:0001508Failure to thrive0PEX11B CL E G H87998853ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent4
HP:0001508HP:0001508Failure to thrive0PEX11B CL E G H87998853ORPHA:912Zellweger syndromeHP:0040281 - Very frequent4
HP:0001508HP:0001508Failure to thrive0PEX12 CL E G H51938854ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent65
HP:0001508HP:0001508Failure to thrive0PEX12 CL E G H51938854OMIM:266510Peroxisome biogenesis disorder 3B.65
HP:0001508HP:0001508Failure to thrive0PEX12 CL E G H51938854ORPHA:912Zellweger syndromeHP:0040281 - Very frequent65
HP:0001508HP:0001508Failure to thrive0PEX13 CL E G H51948855ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent66
HP:0001508HP:0001508Failure to thrive0PEX13 CL E G H51948855OMIM:614883Peroxisome biogenesis disorder 11A (Zellweger).66
HP:0001508HP:0001508Failure to thrive0PEX13 CL E G H51948855ORPHA:912Zellweger syndromeHP:0040281 - Very frequent66
HP:0001508HP:0001508Failure to thrive0PEX14 CL E G H51958856ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent46
HP:0001508HP:0001508Failure to thrive0PEX14 CL E G H51958856ORPHA:912Zellweger syndromeHP:0040281 - Very frequent46
HP:0001508HP:0001508Failure to thrive0PEX16 CL E G H94098857ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent59
HP:0001508HP:0001508Failure to thrive0PEX16 CL E G H94098857OMIM:614877Peroxisome biogenesis disorder 8B.59
HP:0001508HP:0001508Failure to thrive0PEX16 CL E G H94098857ORPHA:912Zellweger syndromeHP:0040281 - Very frequent59
HP:0001508HP:0001508Failure to thrive0PEX19 CL E G H58249713ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent62
HP:0001508HP:0001508Failure to thrive0PEX19 CL E G H58249713ORPHA:912Zellweger syndromeHP:0040281 - Very frequent62
HP:0001508HP:0001508Failure to thrive0PEX2 CL E G H58289717ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent82
HP:0001508HP:0001508Failure to thrive0PEX2 CL E G H58289717OMIM:614866Peroxisome biogenesis disorder 5A (Zellweger).82
HP:0001508HP:0001508Failure to thrive0PEX2 CL E G H58289717ORPHA:912Zellweger syndromeHP:0040281 - Very frequent82
HP:0001508HP:0001508Failure to thrive0PEX26 CL E G H5567022965ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent106
HP:0001508HP:0001508Failure to thrive0PEX26 CL E G H5567022965ORPHA:912Zellweger syndromeHP:0040281 - Very frequent106
HP:0001508HP:0001508Failure to thrive0PEX3 CL E G H85048858ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent47
HP:0001508HP:0001508Failure to thrive0PEX3 CL E G H85048858ORPHA:912Zellweger syndromeHP:0040281 - Very frequent47
HP:0001508HP:0001508Failure to thrive0PEX5 CL E G H58309719ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent99
HP:0001508HP:0001508Failure to thrive0PEX5 CL E G H58309719OMIM:214110Peroxisome biogenesis disorder 2A (Zellweger).99
HP:0001508HP:0001508Failure to thrive0PEX5 CL E G H58309719ORPHA:912Zellweger syndromeHP:0040281 - Very frequent99
HP:0001508HP:0001508Failure to thrive0PEX6 CL E G H51908859ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent98
HP:0001508HP:0001508Failure to thrive0PEX6 CL E G H51908859ORPHA:912Zellweger syndromeHP:0040281 - Very frequent98
HP:0001508HP:0001508Failure to thrive0PEX7 CL E G H51918860OMIM:215100Rhizomelic chondrodysplasia punctata, type 172
HP:0001508HP:0001508Failure to thrive0PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:0001508HP:0001508Failure to thrive0PGM3 CL E G H52388907OMIM:615816Immunodeficiency 2315
HP:0001508HP:0001508Failure to thrive0PGM3 CL E G H52388907ORPHA:443811PGM3-CDGHP:0040282 - Frequent15
HP:0001508HP:0001508Failure to thrive0PHGDH CL E G H262278923ORPHA:793513-phosphoglycerate dehydrogenase deficiency, infantile/juvenile formHP:0040282 - Frequent37
HP:0001508HP:0001508Failure to thrive0PHKA2 CL E G H52568926ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiencyHP:0040283 - Occasional54
HP:0001508HP:0001508Failure to thrive0PHKG2 CL E G H52618931ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiencyHP:0040283 - Occasional48
HP:0001508HP:0001508Failure to thrive0PHOX2B CL E G H89299143ORPHA:99803Haddad syndromeHP:0040281 - Very frequent86
HP:0001508HP:0001508Failure to thrive0PIEZO2 CL E G H6389526270ORPHA:2461Marden-Walker syndromeHP:0040281 - Very frequent77
HP:0001508HP:0001508Failure to thrive0PIGB CL E G H94888959OMIM:618580DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0001508HP:0001508Failure to thrive0PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent7
HP:0001508HP:0001508Failure to thrive0PIGP CL E G H512273046ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare2
HP:0001508HP:0001508Failure to thrive0PIGQ CL E G H909114135ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare3
HP:0001508HP:0001508Failure to thrive0PIK3CA CL E G H52908975ORPHA:201Cowden syndromeHP:0040283 - Occasional162
HP:0001508HP:0001508Failure to thrive0PIK3CA CL E G H52908975ORPHA:60040Megalencephaly-capillary malformation-polymicrogyria syndromeHP:0040282 - Frequent162
HP:0001508HP:0001508Failure to thrive0PIK3R1 CL E G H52958979ORPHA:33110Autosomal agammaglobulinemiaHP:0040282 - Frequent43
HP:0001508HP:0001508Failure to thrive0PKP1 CL E G H53179023ORPHA:158668Ectodermal dysplasia-skin fragility syndromeHP:0040282 - Frequent107
HP:0001508HP:0001508Failure to thrive0PLAA CL E G H93739043OMIM:617527Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies3
HP:0001508HP:0001508Failure to thrive0PLAA CL E G H93739043ORPHA:521426PLAA-associated neurodevelopmental disorderHP:0040282 - Frequent3
HP:0001508HP:0001508Failure to thrive0PLAGL1 CL E G H53259046ORPHA:99886Transient neonatal diabetes mellitusHP:0040283 - Occasional
HP:0001508HP:0001508Failure to thrive0PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent
HP:0001508HP:0001508Failure to thrive0PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0001508HP:0001508Failure to thrive0PLP1 CL E G H53549086ORPHA:280210Pelizaeus-Merzbacher disease, connatal formHP:0040283 - Occasional60
HP:0001508HP:0001508Failure to thrive0PMM2 CL E G H53739115OMIM:212065Congenital disorder of glycosylation, type Ia.150
HP:0001508HP:0001508Failure to thrive0PMM2 CL E G H53739115ORPHA:79318PMM2-CDGHP:0040283 - Occasional150
HP:0001508HP:0001508Failure to thrive0PMPCB CL E G H95129119OMIM:617954Multiple mitochondrial dysfunctions syndrome 6.
HP:0001508HP:0001508Failure to thrive0PNKP CL E G H112849154ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare244
HP:0001508HP:0001508Failure to thrive0PNP CL E G H48607892OMIM:613179Immunodeficiency due to purine nucleoside phosphorylase deficiency.52
HP:0001508HP:0001508Failure to thrive0PNPLA1 CL E G H28584821246ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent47
HP:0001508HP:0001508Failure to thrive0PNPO CL E G H5516330260ORPHA:79096Pyridoxal phosphate-responsive seizuresHP:0040282 - Frequent92
HP:0001508HP:0001508Failure to thrive0PNPO CL E G H5516330260OMIM:610090Pyridoxamine 5-prime-phosphate oxidase deficiency.92
HP:0001508HP:0001508Failure to thrive0PNPT1 CL E G H8717823166ORPHA:319514Combined oxidative phosphorylation defect type 13HP:0040283 - Occasional60
HP:0001508HP:0001508Failure to thrive0POC1A CL E G H2588624488OMIM:614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis10
HP:0001508HP:0001508Failure to thrive0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0001508HP:0001508Failure to thrive0POLA1 CL E G H54229173OMIM:301220PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR2
HP:0001508HP:0001508Failure to thrive0POLA1 CL E G H54229173ORPHA:163976X-linked intellectual disability, Van Esch typeHP:0040281 - Very frequent2
HP:0001508HP:0001508Failure to thrive0POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional464
HP:0001508HP:0001508Failure to thrive0POLG CL E G H54289179OMIM:203700Mitochondrial DNA depletion syndrome 4A (Alpers type).464
HP:0001508HP:0001508Failure to thrive0POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional45
HP:0001508HP:0001508Failure to thrive0POLG2 CL E G H112329180OMIM:610131Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4HP:0040283 - Occasional45
HP:0001508HP:0001508Failure to thrive0POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional
HP:0001508HP:0001508Failure to thrive0POLR1C CL E G H953320194OMIM:616494Leukodystrophy, hypomyelinating, 1138
HP:0001508HP:0001508Failure to thrive0POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional38
HP:0001508HP:0001508Failure to thrive0POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional31
HP:0001508HP:0001508Failure to thrive0POLR2A CL E G H54309187OMIM:618603NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0001508HP:0001508Failure to thrive0POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome.138
HP:0001508HP:0001508Failure to thrive0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040282 - Frequent138
HP:0001508HP:0001508Failure to thrive0POLR3K CL E G H5172814121OMIM:619310LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0001508HP:0001508Failure to thrive0POMC CL E G H54439201ORPHA:71526Obesity due to pro-opiomelanocortin deficiencyHP:0040283 - Occasional27
HP:0001508HP:0001508Failure to thrive0POMP CL E G H5137120330OMIM:618048Proteasome-Associated autoinflammatory syndrome 2.2
HP:0001508HP:0001508Failure to thrive0POU1F1 CL E G H54499210OMIM:613038Pituitary hormone deficiency, combined, 136
HP:0001508HP:0001508Failure to thrive0PPARG CL E G H54689236ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional42
HP:0001508HP:0001508Failure to thrive0PPFIBP1 CL E G H84969249OMIM:620024
HP:0001508HP:0001508Failure to thrive0PPM1B CL E G H54959276ORPHA:1636932p21 microdeletion syndromeHP:0040281 - Very frequent
HP:0001508HP:0001508Failure to thrive0PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0001508HP:0001508Failure to thrive0PPP3CA CL E G H55309314ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent2
HP:0001508HP:0001508Failure to thrive0PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent148
HP:0001508HP:0001508Failure to thrive0PRDX1 CL E G H50529352OMIM:277400Methylmalonic aciduria and homocystinuria, Cblc type.
HP:0001508HP:0001508Failure to thrive0PREPL CL E G H958130228ORPHA:1636932p21 microdeletion syndromeHP:0040281 - Very frequent7
HP:0001508HP:0001508Failure to thrive0PREPL CL E G H958130228ORPHA:163690Hypotonia-cystinuria syndromeHP:0040281 - Very frequent7
HP:0001508HP:0001508Failure to thrive0PRF1 CL E G H55519360OMIM:603553Hemophagocytic lymphohistiocytosis, familial, 2.58
HP:0001508HP:0001508Failure to thrive0PRKACA CL E G H55669380ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent2
HP:0001508HP:0001508Failure to thrive0PRKACB CL E G H55679381ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent2
HP:0001508HP:0001508Failure to thrive0PRKCD CL E G H55809399ORPHA:1572Common variable immunodeficiency10
HP:0001508HP:0001508Failure to thrive0PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0001508HP:0001508Failure to thrive0PROKR2 CL E G H12867415836ORPHA:95496Pituitary stalk interruption syndromeHP:0040281 - Very frequent34
HP:0001508HP:0001508Failure to thrive0PRPS1 CL E G H56319462ORPHA:423479X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome49
HP:0001508HP:0001508Failure to thrive0PSAP CL E G H56609498ORPHA:206436Infantile Krabbe diseaseHP:0040282 - Frequent81
HP:0001508HP:0001508Failure to thrive0PSAT1 CL E G H2996819129ORPHA:284417Phosphoserine aminotransferase deficiency, infantile/juvenile form27
HP:0001508HP:0001508Failure to thrive0PSMB10 CL E G H56999538OMIM:619175PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5
HP:0001508HP:0001508Failure to thrive0PSMB4 CL E G H56929541OMIM:617591Proteasome-Associated autoinflammatory syndrome 3.
HP:0001508HP:0001508Failure to thrive0PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0001508HP:0001508Failure to thrive0PSMB9 CL E G H56989546OMIM:617591Proteasome-Associated autoinflammatory syndrome 3.
HP:0001508HP:0001508Failure to thrive0PSMC1 CL E G H57009547OMIM:6200711
HP:0001508HP:0001508Failure to thrive0PSMD12 CL E G H57189557ORPHA:52996217q24.2 microdeletion syndrome4
HP:0001508HP:0001508Failure to thrive0PTCH1 CL E G H57279585ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent665
HP:0001508HP:0001508Failure to thrive0PTCH1 CL E G H57279585ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent665
HP:0001508HP:0001508Failure to thrive0PTCH1 CL E G H57279585ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent665
HP:0001508HP:0001508Failure to thrive0PTCH1 CL E G H57279585ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent665
HP:0001508HP:0001508Failure to thrive0PTDSS1 CL E G H97919587OMIM:151050Lenz-Majewski hyperostotic dwarfism.6
HP:0001508HP:0001508Failure to thrive0PTEN CL E G H57289588ORPHA:201Cowden syndromeHP:0040283 - Occasional948
HP:0001508HP:0001508Failure to thrive0PTF1A CL E G H25629723734OMIM:609069Pancreatic and cerebellar agenesis.22
HP:0001508HP:0001508Failure to thrive0PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1291
HP:0001508HP:0001508Failure to thrive0PTPN2 CL E G H57719650ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0PTPN22 CL E G H261919652ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040282 - Frequent3
HP:0001508HP:0001508Failure to thrive0PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic diseaseHP:0040282 - Frequent6
HP:0001508HP:0001508Failure to thrive0PTRH2 CL E G H5165124265OMIM:616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset.6
HP:0001508HP:0001508Failure to thrive0PUS1 CL E G H8032415508OMIM:600462Myopathy, lactic acidosis, and sideroblastic anemia 1.57
HP:0001508HP:0001508Failure to thrive0PUS3 CL E G H8348025461ORPHA:488627Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome1
HP:0001508HP:0001508Failure to thrive0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0001508HP:0001508Failure to thrive0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0001508HP:0001508Failure to thrive0PYCR1 CL E G H58319721OMIM:612940Cutis laxa, autosomal recessive, type IIB.53
HP:0001508HP:0001508Failure to thrive0PYCR2 CL E G H2992030262OMIM:616420Leukodystrophy, hypomyelinating, 10.11
HP:0001508HP:0001508Failure to thrive0PYCR2 CL E G H2992030262ORPHA:481152PYCR2-related microcephaly-progressive leukoencephalopathyHP:0040281 - Very frequent11
HP:0001508HP:0001508Failure to thrive0PYGL CL E G H58369725ORPHA:369Glycogen storage disease due to liver glycogen phosphorylase deficiencyHP:0040282 - Frequent71
HP:0001508HP:0001508Failure to thrive0PYGL CL E G H58369725OMIM:232700Glycogen storage disease VI71
HP:0001508HP:0001508Failure to thrive0RAB3GAP1 CL E G H2293017063OMIM:600118Warburg micro syndrome 1.90
HP:0001508HP:0001508Failure to thrive0RAC2 CL E G H58809802OMIM:618987IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C9
HP:0001508HP:0001508Failure to thrive0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent25
HP:0001508HP:0001508Failure to thrive0RAG1 CL E G H58969831ORPHA:39041Omenn syndromeHP:0040281 - Very frequent127
HP:0001508HP:0001508Failure to thrive0RAG1 CL E G H58969831OMIM:603554Omenn syndrome.127
HP:0001508HP:0001508Failure to thrive0RAG1 CL E G H58969831ORPHA:331206Severe combined immunodeficiency due to complete RAG1/2 deficiencyHP:0040282 - Frequent127
HP:0001508HP:0001508Failure to thrive0RAG1 CL E G H58969831OMIM:601457Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive.127
HP:0001508HP:0001508Failure to thrive0RAG2 CL E G H58979832OMIM:603554Omenn syndrome.50
HP:0001508HP:0001508Failure to thrive0RAG2 CL E G H58979832ORPHA:39041Omenn syndromeHP:0040281 - Very frequent50
HP:0001508HP:0001508Failure to thrive0RAG2 CL E G H58979832ORPHA:331206Severe combined immunodeficiency due to complete RAG1/2 deficiencyHP:0040282 - Frequent50
HP:0001508HP:0001508Failure to thrive0RAG2 CL E G H58979832OMIM:601457Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive.50
HP:0001508HP:0001508Failure to thrive0RAI1 CL E G H107439834ORPHA:171317p11.2 microduplication syndromeHP:0040281 - Very frequent150
HP:0001508HP:0001508Failure to thrive0RAI1 CL E G H107439834ORPHA:477817PMP22-RAI1 contiguous gene duplication syndrome150
HP:0001508HP:0001508Failure to thrive0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndrome150
HP:0001508HP:0001508Failure to thrive0RAPSN CL E G H59139863OMIM:616326Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency73
HP:0001508HP:0001508Failure to thrive0RARB CL E G H59159865ORPHA:2470Matthew-Wood syndromeHP:0040283 - Occasional9
HP:0001508HP:0001508Failure to thrive0RARS2 CL E G H5703821406OMIM:611523Pontocerebellar hypoplasia, type 6.93
HP:0001508HP:0001508Failure to thrive0RASGRP1 CL E G H101259878OMIM:618534IMMUNODEFICIENCY 64; IMD64
HP:0001508HP:0001508Failure to thrive0RBCK1 CL E G H1061615864OMIM:615895Polyglucosan body myopathy 1 with or without immunodeficiency.10
HP:0001508HP:0001508Failure to thrive0RBM10 CL E G H82419896OMIM:311900Tarp syndrome.16
HP:0001508HP:0001508Failure to thrive0RBM10 CL E G H82419896ORPHA:2886TARP syndromeHP:0040282 - Frequent16
HP:0001508HP:0001508Failure to thrive0RBPJ CL E G H35165724ORPHA:974Adams-Oliver syndromeHP:0040281 - Very frequent3
HP:0001508HP:0001508Failure to thrive0RECQL4 CL E G H94019949ORPHA:1225Baller-Gerold syndrome445
HP:0001508HP:0001508Failure to thrive0RELB CL E G H59719956OMIM:617585Immunodeficiency 53.1
HP:0001508HP:0001508Failure to thrive0RERE CL E G H4739965ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent16
HP:0001508HP:0001508Failure to thrive0RET CL E G H59799967ORPHA:99803Haddad syndromeHP:0040281 - Very frequent572
HP:0001508HP:0001508Failure to thrive0RET CL E G H59799967ORPHA:388Hirschsprung disease572
HP:0001508HP:0001508Failure to thrive0RET CL E G H59799967OMIM:162300Multiple endocrine neoplasia, type IIB572
HP:0001508HP:0001508Failure to thrive0RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0001508HP:0001508Failure to thrive0RFT1 CL E G H9186930220OMIM:612015Congenital disorder of glycosylation, type IN.92
HP:0001508HP:0001508Failure to thrive0RFT1 CL E G H9186930220ORPHA:244310RFT1-CDGHP:0040282 - Frequent92
HP:0001508HP:0001508Failure to thrive0RFX5 CL E G H59939986OMIM:209920Bare lymphocyte syndrome, type II.38
HP:0001508HP:0001508Failure to thrive0RFX5 CL E G H59939986ORPHA:572Immunodeficiency by defective expression of MHC class IIHP:0040282 - Frequent38
HP:0001508HP:0001508Failure to thrive0RFXANK CL E G H86259987OMIM:209920Bare lymphocyte syndrome, type II.26
HP:0001508HP:0001508Failure to thrive0RFXANK CL E G H86259987ORPHA:572Immunodeficiency by defective expression of MHC class IIHP:0040282 - Frequent26
HP:0001508HP:0001508Failure to thrive0RFXAP CL E G H59949988OMIM:209920Bare lymphocyte syndrome, type II.34
HP:0001508HP:0001508Failure to thrive0RFXAP CL E G H59949988ORPHA:572Immunodeficiency by defective expression of MHC class IIHP:0040282 - Frequent34
HP:0001508HP:0001508Failure to thrive0RIPK1 CL E G H873710019OMIM:618108IMMUNODEFICIENCY 57; IMD57
HP:0001508HP:0001508Failure to thrive0RIT1 CL E G H601610023OMIM:615355NOONAN SYNDROME 8; NS839
HP:0001508HP:0001508Failure to thrive0RMRP CL E G H602310031ORPHA:175Cartilage-hair hypoplasiaHP:0040281 - Very frequent37
HP:0001508HP:0001508Failure to thrive0RMRP CL E G H602310031ORPHA:39041Omenn syndromeHP:0040281 - Very frequent37
HP:0001508HP:0001508Failure to thrive0RNF13 CL E G H1134210057OMIM:618379DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0001508HP:0001508Failure to thrive0RNF13 CL E G H1134210057ORPHA:544503RNF13-related severe early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0RNF2 CL E G H604510061OMIM:619460LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0001508HP:0001508Failure to thrive0RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I.15
HP:0001508HP:0001508Failure to thrive0RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0001508HP:0001508Failure to thrive0ROBO1 CL E G H609110249ORPHA:95496Pituitary stalk interruption syndromeHP:0040281 - Very frequent7
HP:0001508HP:0001508Failure to thrive0RPL5 CL E G H612510360OMIM:612561Diamond-Blackfan anemia 6.40
HP:0001508HP:0001508Failure to thrive0RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 1.42
HP:0001508HP:0001508Failure to thrive0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0001508HP:0001508Failure to thrive0RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional125
HP:0001508HP:0001508Failure to thrive0RRM2B CL E G H5048417296OMIM:612075Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy).125
HP:0001508HP:0001508Failure to thrive0RTEL1 CL E G H5175015888ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040281 - Very frequent77
HP:0001508HP:0001508Failure to thrive0RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiency113
HP:0001508HP:0001508Failure to thrive0RYR1 CL E G H626110483ORPHA:424107Congenital myopathy with myasthenic-like onsetHP:0040282 - Frequent1200
HP:0001508HP:0001508Failure to thrive0RYR1 CL E G H626110483OMIM:619542KING-DENBOROUGH SYNDROME; KDS1200
HP:0001508HP:0001508Failure to thrive0RYR1 CL E G H626110483OMIM:255310Myopathy, congenital, with fiber-type disproportion.1200
HP:0001508HP:0001508Failure to thrive0SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndromeHP:0040283 - Occasional124
HP:0001508HP:0001508Failure to thrive0SAR1B CL E G H5112810535ORPHA:71Chylomicron retention diseaseHP:0040282 - Frequent8
HP:0001508HP:0001508Failure to thrive0SAR1B CL E G H5112810535OMIM:246700Chylomicron retention disease.8
HP:0001508HP:0001508Failure to thrive0SARS2 CL E G H5493817697OMIM:613845Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome.60
HP:0001508HP:0001508Failure to thrive0SBDS CL E G H5111919440ORPHA:811Shwachman-Diamond syndromeHP:0040282 - Frequent26
HP:0001508HP:0001508Failure to thrive0SBDS CL E G H5111919440OMIM:260400Shwachman-Diamond syndrome 1.26
HP:0001508HP:0001508Failure to thrive0SC5D CL E G H630910547ORPHA:46059LathosterolosisHP:0040282 - Frequent80
HP:0001508HP:0001508Failure to thrive0SCN1B CL E G H632410586ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare126
HP:0001508HP:0001508Failure to thrive0SCN2A CL E G H632610588ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare427
HP:0001508HP:0001508Failure to thrive0SCN3A CL E G H632810590OMIM:617938EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE6270
HP:0001508HP:0001508Failure to thrive0SCN3A CL E G H632810590ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent70
HP:0001508HP:0001508Failure to thrive0SCN8A CL E G H633410596ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent357
HP:0001508HP:0001508Failure to thrive0SCNN1A CL E G H633710599ORPHA:171876Generalized pseudohypoaldosteronism type 167
HP:0001508HP:0001508Failure to thrive0SCNN1A CL E G H633710599OMIM:264350Pseudohypoaldosteronism, type I, autosomal recessive.67
HP:0001508HP:0001508Failure to thrive0SCNN1B CL E G H633810600ORPHA:171876Generalized pseudohypoaldosteronism type 161
HP:0001508HP:0001508Failure to thrive0SCNN1G CL E G H634010602ORPHA:171876Generalized pseudohypoaldosteronism type 157
HP:0001508HP:0001508Failure to thrive0SCO1 CL E G H634110603OMIM:619048MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN446
HP:0001508HP:0001508Failure to thrive0SCO2 CL E G H999710604ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent40
HP:0001508HP:0001508Failure to thrive0SDHA CL E G H638910680ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent304
HP:0001508HP:0001508Failure to thrive0SDHB CL E G H639010681ORPHA:201Cowden syndromeHP:0040283 - Occasional237
HP:0001508HP:0001508Failure to thrive0SDHC CL E G H639110682ORPHA:201Cowden syndromeHP:0040283 - Occasional147
HP:0001508HP:0001508Failure to thrive0SDHD CL E G H639210683ORPHA:201Cowden syndromeHP:0040283 - Occasional129
HP:0001508HP:0001508Failure to thrive0SEC23B CL E G H1048310702ORPHA:201Cowden syndromeHP:0040283 - Occasional60
HP:0001508HP:0001508Failure to thrive0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0001508HP:0001508Failure to thrive0SEC31A CL E G H2287217052OMIM:618651HALPERIN-BIRK SYNDROME; HLBKS
HP:0001508HP:0001508Failure to thrive0SELENON CL E G H5719015999ORPHA:324604Classic multiminicore myopathyHP:0040282 - Frequent144
HP:0001508HP:0001508Failure to thrive0SELENON CL E G H5719015999ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent144
HP:0001508HP:0001508Failure to thrive0SELENON CL E G H5719015999OMIM:255310Myopathy, congenital, with fiber-type disproportion.144
HP:0001508HP:0001508Failure to thrive0SELENON CL E G H5719015999OMIM:602771Rigid spine muscular dystrophy 1.144
HP:0001508HP:0001508Failure to thrive0SEMA3C CL E G H1051210725ORPHA:388Hirschsprung disease1
HP:0001508HP:0001508Failure to thrive0SEMA3D CL E G H22311710726ORPHA:388Hirschsprung disease2
HP:0001508HP:0001508Failure to thrive0SERAC1 CL E G H8494721061OMIM:6147393-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome.47
HP:0001508HP:0001508Failure to thrive0SERPINA1 CL E G H52658941ORPHA:586Cystic fibrosis131
HP:0001508HP:0001508Failure to thrive0SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome.143
HP:0001508HP:0001508Failure to thrive0SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndrome143
HP:0001508HP:0001508Failure to thrive0SFTPB CL E G H643910801OMIM:265120Surfactant metabolism dysfunction, pulmonary, 1.51
HP:0001508HP:0001508Failure to thrive0SFTPC CL E G H644010802OMIM:610913Surfactant metabolism dysfunction, pulmonary, 233
HP:0001508HP:0001508Failure to thrive0SGO1 CL E G H15164825088OMIM:616201Chronic atrial and intestinal dysrhythmia.2
HP:0001508HP:0001508Failure to thrive0SH2B1 CL E G H2597030417ORPHA:261197Proximal 16p11.2 microdeletion syndromeHP:0040283 - Occasional
HP:0001508HP:0001508Failure to thrive0SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4CHP:0040283 - Occasional493
HP:0001508HP:0001508Failure to thrive0SHH CL E G H646910848ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent67
HP:0001508HP:0001508Failure to thrive0SHH CL E G H646910848ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent67
HP:0001508HP:0001508Failure to thrive0SHH CL E G H646910848ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent67
HP:0001508HP:0001508Failure to thrive0SHH CL E G H646910848ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent67
HP:0001508HP:0001508Failure to thrive0SHOC2 CL E G H803615454OMIM:607721Noonan syndrome-like with loose anagen hair 174
HP:0001508HP:0001508Failure to thrive0SIK1 CL E G H15009411142ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare11
HP:0001508HP:0001508Failure to thrive0SIL1 CL E G H6437424624OMIM:248800Marinesco-Sjogren syndrome.67
HP:0001508HP:0001508Failure to thrive0SIM1 CL E G H649210882ORPHA:398079SIM1-related Prader-Willi-like syndromeHP:0040282 - Frequent40
HP:0001508HP:0001508Failure to thrive0SIN3A CL E G H2594219353ORPHA:9406515q24 microdeletion syndromeHP:0040283 - Occasional9
HP:0001508HP:0001508Failure to thrive0SIX3 CL E G H649610889ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent32
HP:0001508HP:0001508Failure to thrive0SIX3 CL E G H649610889ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent32
HP:0001508HP:0001508Failure to thrive0SIX3 CL E G H649610889ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent32
HP:0001508HP:0001508Failure to thrive0SIX3 CL E G H649610889ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent32
HP:0001508HP:0001508Failure to thrive0SKI CL E G H649710896ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent150
HP:0001508HP:0001508Failure to thrive0SKI CL E G H649710896ORPHA:2462Shprintzen-Goldberg syndromeHP:0040283 - Occasional150
HP:0001508HP:0001508Failure to thrive0SKIC2 CL E G H649910898OMIM:614602Trichohepatoenteric syndrome 2.
HP:0001508HP:0001508Failure to thrive0SKIC3 CL E G H965223639OMIM:222470Trichohepatoenteric syndrome 1.
HP:0001508HP:0001508Failure to thrive0SLC10A2 CL E G H655510906OMIM:613291Bile acid malabsorption, primary.6
HP:0001508HP:0001508Failure to thrive0SLC11A1 CL E G H655610907ORPHA:586Cystic fibrosis2
HP:0001508HP:0001508Failure to thrive0SLC12A1 CL E G H655710910OMIM:601678Bartter syndrome, type 1, antenatal.75
HP:0001508HP:0001508Failure to thrive0SLC12A3 CL E G H655910912ORPHA:358Gitelman syndromeHP:0040282 - Frequent145
HP:0001508HP:0001508Failure to thrive0SLC12A3 CL E G H655910912OMIM:263800Gitelman syndrome145
HP:0001508HP:0001508Failure to thrive0SLC13A5 CL E G H28411123089ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent73
HP:0001508HP:0001508Failure to thrive0SLC16A2 CL E G H656710923ORPHA:59Allan-Herndon-Dudley syndrome57
HP:0001508HP:0001508Failure to thrive0SLC17A5 CL E G H2650310933OMIM:269920Infantile sialic acid storage disease.78
HP:0001508HP:0001508Failure to thrive0SLC19A3 CL E G H8070416266ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent110
HP:0001508HP:0001508Failure to thrive0SLC1A2 CL E G H650610940ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent3
HP:0001508HP:0001508Failure to thrive0SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent63
HP:0001508HP:0001508Failure to thrive0SLC22A5 CL E G H658410969OMIM:212140Carnitine deficiency, systemic primary.207
HP:0001508HP:0001508Failure to thrive0SLC25A13 CL E G H1016510983OMIM:605814Citrullinemia, type II, neonatal-onset.82
HP:0001508HP:0001508Failure to thrive0SLC25A13 CL E G H1016510983ORPHA:247598Neonatal intrahepatic cholestasis due to citrin deficiency82
HP:0001508HP:0001508Failure to thrive0SLC25A15 CL E G H1016610985ORPHA:415Hyperornithinemia-hyperammonemia-homocitrullinuria syndromeHP:0040282 - Frequent88
HP:0001508HP:0001508Failure to thrive0SLC25A15 CL E G H1016610985OMIM:238970Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome.88
HP:0001508HP:0001508Failure to thrive0SLC25A21 CL E G H8987414411OMIM:618811MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0001508HP:0001508Failure to thrive0SLC25A22 CL E G H7975119954ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare166
HP:0001508HP:0001508Failure to thrive0SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome
HP:0001508HP:0001508Failure to thrive0SLC25A24 CL E G H2995720662ORPHA:2963Progeroid syndrome, Petty typeHP:0040281 - Very frequent
HP:0001508HP:0001508Failure to thrive0SLC25A3 CL E G H525010989ORPHA:91130Cardiomyopathy-hypotonia-lactic acidosis syndromeHP:0040282 - Frequent35
HP:0001508HP:0001508Failure to thrive0SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional68
HP:0001508HP:0001508Failure to thrive0SLC25A46 CL E G H9113725198ORPHA:2254Pontocerebellar hypoplasia type 114
HP:0001508HP:0001508Failure to thrive0SLC26A3 CL E G H18113018OMIM:214700Diarrhea 1, secretory chloride, congenital.89
HP:0001508HP:0001508Failure to thrive0SLC26A9 CL E G H11501914469ORPHA:586Cystic fibrosis5
HP:0001508HP:0001508Failure to thrive0SLC2A2 CL E G H651411006OMIM:227810Fanconi-Bickel syndrome.71
HP:0001508HP:0001508Failure to thrive0SLC2A2 CL E G H651411006ORPHA:2088Fanconi-Bickel syndromeHP:0040281 - Very frequent71
HP:0001508HP:0001508Failure to thrive0SLC30A9 CL E G H104631329OMIM:617595Birk-Landau-Perez syndrome1
HP:0001508HP:0001508Failure to thrive0SLC34A1 CL E G H656911019OMIM:616963HYPERCALCEMIA, INFANTILE, 2; HCINF247
HP:0001508HP:0001508Failure to thrive0SLC34A3 CL E G H14268020305OMIM:241530Hypophosphatemic rickets with hypercalciuria, hereditary.52
HP:0001508HP:0001508Failure to thrive0SLC35A2 CL E G H735511022ORPHA:356961SLC35A2-CDG27
HP:0001508HP:0001508Failure to thrive0SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type IIHP:0040281 - Very frequent71
HP:0001508HP:0001508Failure to thrive0SLC37A4 CL E G H25424061OMIM:619525CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W110
HP:0001508HP:0001508Failure to thrive0SLC37A4 CL E G H25424061ORPHA:79259Glycogen storage disease due to glucose-6-phosphatase deficiency type IbHP:0040282 - Frequent110
HP:0001508HP:0001508Failure to thrive0SLC38A3 CL E G H1099118044ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0SLC39A13 CL E G H9125220859ORPHA:157965SLC39A13-related spondylodysplastic Ehlers-Danlos syndromeHP:0040281 - Very frequent24
HP:0001508HP:0001508Failure to thrive0SLC39A4 CL E G H5563017129ORPHA:37Acrodermatitis enteropathicaHP:0040282 - Frequent55
HP:0001508HP:0001508Failure to thrive0SLC39A4 CL E G H5563017129OMIM:201100Acrodermatitis enteropathica, Zinc-Deficiency type.55
HP:0001508HP:0001508Failure to thrive0SLC39A7 CL E G H79224927OMIM:619693AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0001508HP:0001508Failure to thrive0SLC39A8 CL E G H6411620862ORPHA:468699SLC39A8-CDG11
HP:0001508HP:0001508Failure to thrive0SLC3A1 CL E G H651911025ORPHA:1636932p21 microdeletion syndromeHP:0040281 - Very frequent55
HP:0001508HP:0001508Failure to thrive0SLC3A1 CL E G H651911025ORPHA:163690Hypotonia-cystinuria syndromeHP:0040281 - Very frequent55
HP:0001508HP:0001508Failure to thrive0SLC46A1 CL E G H11323530521OMIM:229050Folate malabsorption, hereditary.101
HP:0001508HP:0001508Failure to thrive0SLC46A1 CL E G H11323530521ORPHA:90045Hereditary folate malabsorptionHP:0040281 - Very frequent101
HP:0001508HP:0001508Failure to thrive0SLC4A1 CL E G H652111027OMIM:611590Renal tubular acidosis, distal, with hemolytic anemia109
HP:0001508HP:0001508Failure to thrive0SLC51A CL E G H20093129955OMIM:619484CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6
HP:0001508HP:0001508Failure to thrive0SLC5A1 CL E G H652311036ORPHA:35710Glucose-galactose malabsorptionHP:0040281 - Very frequent74
HP:0001508HP:0001508Failure to thrive0SLC5A1 CL E G H652311036OMIM:606824Glucose/galactose malabsorption.74
HP:0001508HP:0001508Failure to thrive0SLC6A14 CL E G H1125411047ORPHA:586Cystic fibrosis
HP:0001508HP:0001508Failure to thrive0SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked.122
HP:0001508HP:0001508Failure to thrive0SLC7A7 CL E G H905611065OMIM:222700Lysinuric protein intolerance.104
HP:0001508HP:0001508Failure to thrive0SLC7A7 CL E G H905611065ORPHA:470Lysinuric protein intoleranceHP:0040281 - Very frequent104
HP:0001508HP:0001508Failure to thrive0SLC9A3 CL E G H655011073ORPHA:586Cystic fibrosis7
HP:0001508HP:0001508Failure to thrive0SMAD4 CL E G H40896770OMIM:174900Juvenile polyposis syndromeHP:0040282 - Frequent504
HP:0001508HP:0001508Failure to thrive0SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome.146
HP:0001508HP:0001508Failure to thrive0SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasiaHP:0040283 - Occasional74
HP:0001508HP:0001508Failure to thrive0SMARCC2 CL E G H660111105OMIM:618362Coffin-Siris syndrome 8.1
HP:0001508HP:0001508Failure to thrive0SMARCD2 CL E G H660311107OMIM:617475SPECIFIC GRANULE DEFICIENCY 2; SGD23
HP:0001508HP:0001508Failure to thrive0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent135
HP:0001508HP:0001508Failure to thrive0SMC1A CL E G H824311111ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent135
HP:0001508HP:0001508Failure to thrive0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent91
HP:0001508HP:0001508Failure to thrive0SMO CL E G H660811119ORPHA:388Hirschsprung disease22
HP:0001508HP:0001508Failure to thrive0SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomaliesHP:0040282 - Frequent15
HP:0001508HP:0001508Failure to thrive0SMPD1 CL E G H660911120OMIM:257200Niemann-Pick disease, type A164
HP:0001508HP:0001508Failure to thrive0SNAP29 CL E G H934211133OMIM:609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome94
HP:0001508HP:0001508Failure to thrive0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0001508HP:0001508Failure to thrive0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0001508HP:0001508Failure to thrive0SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent37
HP:0001508HP:0001508Failure to thrive0SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent37
HP:0001508HP:0001508Failure to thrive0SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent37
HP:0001508HP:0001508Failure to thrive0SNX10 CL E G H2988714974OMIM:615085Osteopetrosis, autosomal recessive 8.2
HP:0001508HP:0001508Failure to thrive0SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome12
HP:0001508HP:0001508Failure to thrive0SON CL E G H665111183OMIM:617140Zttk syndrome12
HP:0001508HP:0001508Failure to thrive0SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia.109
HP:0001508HP:0001508Failure to thrive0SP110 CL E G H34315401ORPHA:79124Hepatic veno-occlusive disease-immunodeficiency syndrome49
HP:0001508HP:0001508Failure to thrive0SPATA5 CL E G H16637818119OMIM:616577Epilepsy, hearing loss, and mental retardation syndromeHP:0040283 - Occasional19
HP:0001508HP:0001508Failure to thrive0SPEN CL E G H2301317575ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent4
HP:0001508HP:0001508Failure to thrive0SPINK5 CL E G H1100515464OMIM:256500Netherton syndrome.100
HP:0001508HP:0001508Failure to thrive0SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0001508HP:0001508Failure to thrive0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001508HP:0001508Failure to thrive0SRD5A3 CL E G H7964425812OMIM:612379Congenital disorder of glycosylation, type IQ80
HP:0001508HP:0001508Failure to thrive0SREBF1 CL E G H672011289ORPHA:388Hirschsprung disease1
HP:0001508HP:0001508Failure to thrive0SRP54 CL E G H672911301ORPHA:811Shwachman-Diamond syndromeHP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0SRP54 CL E G H672911301OMIM:260400Shwachman-Diamond syndrome 1.
HP:0001508HP:0001508Failure to thrive0SSR4 CL E G H674811326OMIM:300934Congenital disorder of glycosylation, type Iy12
HP:0001508HP:0001508Failure to thrive0SSR4 CL E G H674811326ORPHA:370927SSR4-CDGHP:0040281 - Very frequent12
HP:0001508HP:0001508Failure to thrive0ST3GAL5 CL E G H886910872OMIM:609056Salt and pepper developmental regression syndrome.47
HP:0001508HP:0001508Failure to thrive0STAG1 CL E G H1027411354ORPHA:502434STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndromeHP:0040283 - Occasional9
HP:0001508HP:0001508Failure to thrive0STAG2 CL E G H1073511355ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent1
HP:0001508HP:0001508Failure to thrive0STAG2 CL E G H1073511355OMIM:301022Neurodevelopmental disorder, X-linked, with craniofacial abnormalities.1
HP:0001508HP:0001508Failure to thrive0STAG2 CL E G H1073511355ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent1
HP:0001508HP:0001508Failure to thrive0STAMBP CL E G H1061716950OMIM:614261Microcephaly-Capillary malformation syndrome.24
HP:0001508HP:0001508Failure to thrive0STAR CL E G H677011359ORPHA:361Familial glucocorticoid deficiencyHP:0040281 - Very frequent45
HP:0001508HP:0001508Failure to thrive0STAT3 CL E G H677411364ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040281 - Very frequent110
HP:0001508HP:0001508Failure to thrive0STAT4 CL E G H677511365ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040282 - Frequent2
HP:0001508HP:0001508Failure to thrive0STAT5B CL E G H677711367OMIM:245590GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY12
HP:0001508HP:0001508Failure to thrive0STIL CL E G H649110879ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent99
HP:0001508HP:0001508Failure to thrive0STIL CL E G H649110879ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent99
HP:0001508HP:0001508Failure to thrive0STIL CL E G H649110879ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent99
HP:0001508HP:0001508Failure to thrive0STIL CL E G H649110879ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent99
HP:0001508HP:0001508Failure to thrive0STING1 CL E G H34006127962OMIM:615934STING-associated vasculopathy, infantile-onset
HP:0001508HP:0001508Failure to thrive0STRA6 CL E G H6422030650ORPHA:2470Matthew-Wood syndromeHP:0040283 - Occasional71
HP:0001508HP:0001508Failure to thrive0STRADA CL E G H9233530172ORPHA:500533Polyhydramnios-megalencephaly-symptomatic epilepsy syndromeHP:0040283 - Occasional6
HP:0001508HP:0001508Failure to thrive0STT3A CL E G H37036172OMIM:615596Congenital disorder of glycosylation, type Iw.21
HP:0001508HP:0001508Failure to thrive0STT3A CL E G H37036172ORPHA:370921STT3A-CDGHP:0040280 - Obligate21
HP:0001508HP:0001508Failure to thrive0STT3B CL E G H20159530611OMIM:615597Congenital disorder of glycosylation, type Ix.18
HP:0001508HP:0001508Failure to thrive0STT3B CL E G H20159530611ORPHA:370924STT3B-CDGHP:0040280 - Obligate18
HP:0001508HP:0001508Failure to thrive0STX1A CL E G H680411433ORPHA:586Cystic fibrosis
HP:0001508HP:0001508Failure to thrive0STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0001508HP:0001508Failure to thrive0SUCLA2 CL E G H880311448OMIM:612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria).66
HP:0001508HP:0001508Failure to thrive0SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduriaHP:0040282 - Frequent60
HP:0001508HP:0001508Failure to thrive0SUCLG1 CL E G H880211449OMIM:245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)60
HP:0001508HP:0001508Failure to thrive0SUGCT CL E G H7978316001ORPHA:35706Glutaric acidemia type 3HP:0040283 - Occasional8
HP:0001508HP:0001508Failure to thrive0SUGCT CL E G H7978316001OMIM:231690Glutaric aciduria III.8
HP:0001508HP:0001508Failure to thrive0SURF1 CL E G H683411474ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent73
HP:0001508HP:0001508Failure to thrive0SURF1 CL E G H683411474ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent73
HP:0001508HP:0001508Failure to thrive0SURF1 CL E G H683411474OMIM:220110Mitochondrial complex IV deficiency.73
HP:0001508HP:0001508Failure to thrive0SYNGAP1 CL E G H883111497ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent108
HP:0001508HP:0001508Failure to thrive0SYNJ1 CL E G H886711503ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent9
HP:0001508HP:0001508Failure to thrive0SYT2 CL E G H12783311510OMIM:619461MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B4
HP:0001508HP:0001508Failure to thrive0SZT2 CL E G H2333429040ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent123
HP:0001508HP:0001508Failure to thrive0TACO1 CL E G H5120424316ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent23
HP:0001508HP:0001508Failure to thrive0TAFAZZIN CL E G H690111577OMIM:302060Barth syndrome.
HP:0001508HP:0001508Failure to thrive0TALDO1 CL E G H688811559OMIM:606003Transaldolase deficiency.34
HP:0001508HP:0001508Failure to thrive0TAOK1 CL E G H5755129259OMIM:619575DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0001508HP:0001508Failure to thrive0TASP1 CL E G H5561715859OMIM:618950SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0001508HP:0001508Failure to thrive0TBL1XR1 CL E G H7971829529OMIM:602342Pierpont syndromeHP:0040283 - Occasional22
HP:0001508HP:0001508Failure to thrive0TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0001508HP:0001508Failure to thrive0TBR1 CL E G H1071611590ORPHA:16172q24 microdeletion syndromeHP:0040281 - Very frequent1
HP:0001508HP:0001508Failure to thrive0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional32
HP:0001508HP:0001508Failure to thrive0TBX4 CL E G H949611603ORPHA:26127917q23.1q23.2 microdeletion syndromeHP:0040283 - Occasional55
HP:0001508HP:0001508Failure to thrive0TCF3 CL E G H692911633OMIM:619824AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B2
HP:0001508HP:0001508Failure to thrive0TCF3 CL E G H692911633ORPHA:33110Autosomal agammaglobulinemiaHP:0040282 - Frequent2
HP:0001508HP:0001508Failure to thrive0TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndromeHP:0040281 - Very frequent241
HP:0001508HP:0001508Failure to thrive0TCIRG1 CL E G H1031211647OMIM:259700Osteopetrosis, autosomal recessive 1.82
HP:0001508HP:0001508Failure to thrive0TCN2 CL E G H694811653OMIM:275350Transcobalamin II deficiency.57
HP:0001508HP:0001508Failure to thrive0TCOF1 CL E G H694911654ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional140
HP:0001508HP:0001508Failure to thrive0TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 4HP:0040282 - Frequent31
HP:0001508HP:0001508Failure to thrive0TCTN3 CL E G H2612324519ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent31
HP:0001508HP:0001508Failure to thrive0TDGF1 CL E G H699711701ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent1
HP:0001508HP:0001508Failure to thrive0TDGF1 CL E G H699711701ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent1
HP:0001508HP:0001508Failure to thrive0TDGF1 CL E G H699711701ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent1
HP:0001508HP:0001508Failure to thrive0TDGF1 CL E G H699711701ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent1
HP:0001508HP:0001508Failure to thrive0TERT CL E G H701511730OMIM:613989Dyskeratosis congenita, autosomal dominant 2.238
HP:0001508HP:0001508Failure to thrive0TERT CL E G H701511730ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040281 - Very frequent238
HP:0001508HP:0001508Failure to thrive0TFAM CL E G H701911741OMIM:617156Mitochondrial DNA depletion syndrome 15 (hepatocerebral type).1
HP:0001508HP:0001508Failure to thrive0TFRC CL E G H703711763OMIM:616740Immunodeficiency 461
HP:0001508HP:0001508Failure to thrive0TGDS CL E G H2348320324ORPHA:1388Catel-Manzke syndromeHP:0040281 - Very frequent6
HP:0001508HP:0001508Failure to thrive0TGFB1 CL E G H704011766ORPHA:586Cystic fibrosis13
HP:0001508HP:0001508Failure to thrive0TGFB1 CL E G H704011766OMIM:219700Cystic fibrosis13
HP:0001508HP:0001508Failure to thrive0TGFB1 CL E G H704011766OMIM:618213INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE13
HP:0001508HP:0001508Failure to thrive0TGFB3 CL E G H704311769OMIM:615582LOEYS-DIETZ SYNDROME 5; LDS585
HP:0001508HP:0001508Failure to thrive0TGIF1 CL E G H705011776ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent32
HP:0001508HP:0001508Failure to thrive0TGIF1 CL E G H705011776ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent32
HP:0001508HP:0001508Failure to thrive0TGIF1 CL E G H705011776ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent32
HP:0001508HP:0001508Failure to thrive0TGIF1 CL E G H705011776ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent32
HP:0001508HP:0001508Failure to thrive0TGM1 CL E G H705111777ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent98
HP:0001508HP:0001508Failure to thrive0TIMM50 CL E G H9260923656ORPHA:5052163-methylglutaconic aciduria type 9HP:0040281 - Very frequent1
HP:0001508HP:0001508Failure to thrive0TIMM50 CL E G H9260923656OMIM:6176983-methylglutaconic aciduria, type IX.1
HP:0001508HP:0001508Failure to thrive0TIMMDC1 CL E G H513001321ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent1
HP:0001508HP:0001508Failure to thrive0TIMMDC1 CL E G H513001321OMIM:618251MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN311
HP:0001508HP:0001508Failure to thrive0TINF2 CL E G H2627711824ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040281 - Very frequent60
HP:0001508HP:0001508Failure to thrive0TJP2 CL E G H941411828OMIM:607748Hypercholanemia, familial.149
HP:0001508HP:0001508Failure to thrive0TK2 CL E G H708411831ORPHA:254875Mitochondrial DNA depletion syndrome, myopathic form103
HP:0001508HP:0001508Failure to thrive0TKFC CL E G H2600724552OMIM:618805TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0001508HP:0001508Failure to thrive0TLK2 CL E G H1101111842OMIM:618050Mental retardation, autosomal dominant 571
HP:0001508HP:0001508Failure to thrive0TLL1 CL E G H709211843ORPHA:99106Atrial septal defect, ostium primum typeHP:0040283 - Occasional6
HP:0001508HP:0001508Failure to thrive0TMEM106B CL E G H5466422407OMIM:617964Leukodystrophy, hypomyelinating, 16
HP:0001508HP:0001508Failure to thrive0TMEM126B CL E G H5586330883ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent4
HP:0001508HP:0001508Failure to thrive0TMEM126B CL E G H5586330883OMIM:618250Mitochondrial complex I deficiency, nuclear type 29.4
HP:0001508HP:0001508Failure to thrive0TMEM165 CL E G H5585830760OMIM:614727Congenital disorder of glycosylation, type IIK.24
HP:0001508HP:0001508Failure to thrive0TMEM216 CL E G H5125925018OMIM:608091Joubert syndrome 2.45
HP:0001508HP:0001508Failure to thrive0TMEM216 CL E G H5125925018ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent45
HP:0001508HP:0001508Failure to thrive0TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0001508HP:0001508Failure to thrive0TMEM70 CL E G H5496826050OMIM:614052Mitochondrial complex V (atp synthase) deficiency, nuclear type 2.63
HP:0001508HP:0001508Failure to thrive0TMPRSS15 CL E G H56519490OMIM:226200Enterokinase deficiency.5
HP:0001508HP:0001508Failure to thrive0TNFRSF11B CL E G H498211909OMIM:239000Paget disease of bone 5, juvenile-onset44
HP:0001508HP:0001508Failure to thrive0TNFRSF13B CL E G H2349518153ORPHA:1572Common variable immunodeficiency32
HP:0001508HP:0001508Failure to thrive0TNFRSF13C CL E G H11565017755ORPHA:1572Common variable immunodeficiency12
HP:0001508HP:0001508Failure to thrive0TNFSF12 CL E G H874211927ORPHA:1572Common variable immunodeficiency1
HP:0001508HP:0001508Failure to thrive0TNPO2 CL E G H3000019998OMIM:619556INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0001508HP:0001508Failure to thrive0TOM1 CL E G H1004311982OMIM:619510IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0001508HP:0001508Failure to thrive0TOPORS CL E G H1021021653ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent61
HP:0001508HP:0001508Failure to thrive0TPI1 CL E G H716712009OMIM:615512Triosephosphate isomerase deficiency28
HP:0001508HP:0001508Failure to thrive0TPM2 CL E G H716912011ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent54
HP:0001508HP:0001508Failure to thrive0TPM2 CL E G H716912011OMIM:255310Myopathy, congenital, with fiber-type disproportion.54
HP:0001508HP:0001508Failure to thrive0TPM3 CL E G H717012012ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent108
HP:0001508HP:0001508Failure to thrive0TPM3 CL E G H717012012OMIM:255310Myopathy, congenital, with fiber-type disproportion.108
HP:0001508HP:0001508Failure to thrive0TRAC CL E G H2875512029OMIM:615387T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY.1
HP:0001508HP:0001508Failure to thrive0TRAK1 CL E G H2290629947OMIM:618201Epileptic encephalopathy, early infantile, 68.
HP:0001508HP:0001508Failure to thrive0TRAK1 CL E G H2290629947ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0TRAPPC2 CL E G H639923068ORPHA:93284Spondyloepiphyseal dysplasia tardaHP:0040281 - Very frequent46
HP:0001508HP:0001508Failure to thrive0TRIM8 CL E G H8160315579ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare1
HP:0001508HP:0001508Failure to thrive0TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromeHP:0040283 - Occasional8
HP:0001508HP:0001508Failure to thrive0TRIT1 CL E G H5480220286OMIM:617873Combined oxidative phosphorylation deficiency 35.12
HP:0001508HP:0001508Failure to thrive0TRMT10C CL E G H5493126022OMIM:616974Combined oxidative phosphorylation deficiency 30.3
HP:0001508HP:0001508Failure to thrive0TRMT5 CL E G H5757023141OMIM:616539Combined oxidative phosphorylation deficiency 26.4
HP:0001508HP:0001508Failure to thrive0TRNF CL E G H45587481ORPHA:550MELASHP:0040283 - Occasional
HP:0001508HP:0001508Failure to thrive0TRNH CL E G H45647487ORPHA:550MELASHP:0040283 - Occasional
HP:0001508HP:0001508Failure to thrive0TRNK CL E G H45667489ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0TRNL1 CL E G H45677490ORPHA:550MELASHP:0040283 - Occasional
HP:0001508HP:0001508Failure to thrive0TRNL1 CL E G H45677490ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0TRNN CL E G H45707493OMIM:220110Mitochondrial complex IV deficiency.
HP:0001508HP:0001508Failure to thrive0TRNQ CL E G H45727495ORPHA:550MELASHP:0040283 - Occasional
HP:0001508HP:0001508Failure to thrive0TRNS1 CL E G H45747497ORPHA:550MELASHP:0040283 - Occasional
HP:0001508HP:0001508Failure to thrive0TRNS1 CL E G H45747497OMIM:220110Mitochondrial complex IV deficiency.
HP:0001508HP:0001508Failure to thrive0TRNS2 CL E G H45757498ORPHA:550MELASHP:0040283 - Occasional
HP:0001508HP:0001508Failure to thrive0TRNV CL E G H45777500ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0TRNW CL E G H45787501ORPHA:550MELASHP:0040283 - Occasional
HP:0001508HP:0001508Failure to thrive0TRNW CL E G H45787501ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0TSHB CL E G H725212372ORPHA:90674Isolated thyroid-stimulating hormone deficiencyHP:0040282 - Frequent9
HP:0001508HP:0001508Failure to thrive0TTC26 CL E G H7998921882OMIM:619534BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001508HP:0001508Failure to thrive0TTN CL E G H727312403ORPHA:324604Classic multiminicore myopathyHP:0040282 - Frequent7128
HP:0001508HP:0001508Failure to thrive0TWIST2 CL E G H11758120670ORPHA:1231Barber-Say syndromeHP:0040281 - Very frequent7
HP:0001508HP:0001508Failure to thrive0TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional113
HP:0001508HP:0001508Failure to thrive0TXNRD2 CL E G H1058718155ORPHA:361Familial glucocorticoid deficiencyHP:0040281 - Very frequent85
HP:0001508HP:0001508Failure to thrive0TYMS CL E G H729812441OMIM:6200401
HP:0001508HP:0001508Failure to thrive0UBA2 CL E G H1005430661OMIM:619959
HP:0001508HP:0001508Failure to thrive0UBA5 CL E G H7987623230OMIM:617132Epileptic encephalopathy, early infantile, 44.13
HP:0001508HP:0001508Failure to thrive0UBA5 CL E G H7987623230ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent13
HP:0001508HP:0001508Failure to thrive0UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome13
HP:0001508HP:0001508Failure to thrive0UBE3B CL E G H8991013478ORPHA:2707Oculocerebrofacial syndrome, Kaufman typeHP:0040282 - Frequent13
HP:0001508HP:0001508Failure to thrive0UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0001508HP:0001508Failure to thrive0UBR1 CL E G H19713116808OMIM:243800Johanson-Blizzard syndrome.25
HP:0001508HP:0001508Failure to thrive0UBR1 CL E G H19713116808ORPHA:2315Johanson-Blizzard syndromeHP:0040281 - Very frequent25
HP:0001508HP:0001508Failure to thrive0UFC1 CL E G H5150626941OMIM:618076Neurodevelopmental disorder with spasticity and poor growth.
HP:0001508HP:0001508Failure to thrive0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0001508HP:0001508Failure to thrive0UMPS CL E G H737212563OMIM:258900Orotic aciduriaHP:0040283 - Occasional135
HP:0001508HP:0001508Failure to thrive0UNC45A CL E G H5589830594OMIM:619377OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0001508HP:0001508Failure to thrive0UNC80 CL E G H28517526582OMIM:616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 223
HP:0001508HP:0001508Failure to thrive0UNC80 CL E G H28517526582ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndrome23
HP:0001508HP:0001508Failure to thrive0UQCC2 CL E G H8430021237OMIM:615824Mitochondrial complex III deficiency, nuclear type 77
HP:0001508HP:0001508Failure to thrive0USF3 CL E G H20571730494ORPHA:201Cowden syndromeHP:0040283 - Occasional1
HP:0001508HP:0001508Failure to thrive0USP7 CL E G H787412630ORPHA:50005516p13.2 microdeletion syndromeHP:0040282 - Frequent2
HP:0001508HP:0001508Failure to thrive0VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndrome6
HP:0001508HP:0001508Failure to thrive0VDR CL E G H742112679OMIM:277440Vitamin d-dependent rickets, type 2A.104
HP:0001508HP:0001508Failure to thrive0VHL CL E G H742812687OMIM:263400Erythrocytosis, familial, 2490
HP:0001508HP:0001508Failure to thrive0VIPAS39 CL E G H6389420347OMIM:613404Arthrogryposis, renal dysfunction, and cholestasis 2.27
HP:0001508HP:0001508Failure to thrive0VPS13B CL E G H1576802183ORPHA:193Cohen syndrome546
HP:0001508HP:0001508Failure to thrive0VPS33B CL E G H2627612712OMIM:208085Arthrogryposis, renal dysfunction, and cholestasis 1.63
HP:0001508HP:0001508Failure to thrive0VPS37A CL E G H13749224928ORPHA:319199Autosomal recessive spastic paraplegia type 53HP:0040284 - Very rare7
HP:0001508HP:0001508Failure to thrive0VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0001508HP:0001508Failure to thrive0VPS45 CL E G H1131114579OMIM:615285Neutropenia, severe congenital, 5, autosomal recessive.7
HP:0001508HP:0001508Failure to thrive0VPS51 CL E G H7381172OMIM:618606PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0001508HP:0001508Failure to thrive0VPS53 CL E G H5527525608OMIM:615851Pontocerebellar hypoplasia, type 2E26
HP:0001508HP:0001508Failure to thrive0VRK1 CL E G H744312718ORPHA:2254Pontocerebellar hypoplasia type 132
HP:0001508HP:0001508Failure to thrive0WDR11 CL E G H5571713831ORPHA:95496Pituitary stalk interruption syndromeHP:0040281 - Very frequent10
HP:0001508HP:0001508Failure to thrive0WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndromeHP:0040282 - Frequent8
HP:0001508HP:0001508Failure to thrive0WDR4 CL E G H1078512756OMIM:618346Microcephaly, growth deficiency, seizures, and brain malformations.
HP:0001508HP:0001508Failure to thrive0WDR62 CL E G H28440324502OMIM:604317Microcephaly 2, primary, autosomal recessive, with or without cortical malformations224
HP:0001508HP:0001508Failure to thrive0WNT2B CL E G H748212781OMIM:618168Diarrhea 9.1
HP:0001508HP:0001508Failure to thrive0WWOX CL E G H5174112799ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent149
HP:0001508HP:0001508Failure to thrive0XPA CL E G H750712814ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent34
HP:0001508HP:0001508Failure to thrive0XPC CL E G H750812816ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent86
HP:0001508HP:0001508Failure to thrive0YARS1 CL E G H856512840OMIM:619418NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0001508HP:0001508Failure to thrive0YARS2 CL E G H5106724249OMIM:613561Myopathy, lactic acidosis, and sideroblastic anemia 2.45
HP:0001508HP:0001508Failure to thrive0YWHAG CL E G H753212852ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0ZAP70 CL E G H753512858ORPHA:911Combined immunodeficiency due to ZAP70 deficiencyHP:0040282 - Frequent46
HP:0001508HP:0001508Failure to thrive0ZAP70 CL E G H753512858OMIM:269840SELECTIVE T-CELL DEFECT.46
HP:0001508HP:0001508Failure to thrive0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040282 - Frequent362
HP:0001508HP:0001508Failure to thrive0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040282 - Frequent362
HP:0001508HP:0001508Failure to thrive0ZFP57 CL E G H34617118791OMIM:601410Diabetes mellitus, transient neonatal, 130
HP:0001508HP:0001508Failure to thrive0ZFP57 CL E G H34617118791ORPHA:99886Transient neonatal diabetes mellitusHP:0040283 - Occasional30
HP:0001508HP:0001508Failure to thrive0ZIC2 CL E G H754612873ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent34
HP:0001508HP:0001508Failure to thrive0ZIC2 CL E G H754612873ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent34
HP:0001508HP:0001508Failure to thrive0ZIC2 CL E G H754612873ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent34
HP:0001508HP:0001508Failure to thrive0ZIC2 CL E G H754612873ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent34
HP:0001508HP:0001508Failure to thrive0ZIC3 CL E G H754712874OMIM:306955Heterotaxy, visceral, 1, X-linked.39
HP:0001508HP:0001508Failure to thrive0ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndrome83
HP:0001508HP:0001508Failure to thrive0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0001508HP:0001508Failure to thrive0ZNFX1 CL E G H5716929271OMIM:619644IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0001508HP:0001508Failure to thrive0ZSWIM6 CL E G H5768829316OMIM:617865Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features.5
HP:0001508HP:0001531Failure to thrive in infancy1ABCC6 CL E G H36857ORPHA:51608Generalized arterial calcification of infancyHP:0040283 - Occasional415
HP:0001508HP:0001531Failure to thrive in infancy1ABCD1 CL E G H21561ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional135
HP:0001508HP:0001525Severe failure to thrive1ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndromeHP:0040282 - Frequent145
HP:0001508HP:0001531Failure to thrive in infancy1ATP7A CL E G H538869ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional192
HP:0001508HP:0001531Failure to thrive in infancy1BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001508HP:0001531Failure to thrive in infancy1BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001508HP:0001531Failure to thrive in infancy1BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndromeHP:0040282 - Frequent2
HP:0001508HP:0001531Failure to thrive in infancy1BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndromeHP:0040281 - Very frequent276
HP:0001508HP:0001531Failure to thrive in infancy1BRAF CL E G H6731097OMIM:163950Noonan syndrome 1.276
HP:0001508HP:0001525Severe failure to thrive1BSND CL E G H780916512ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040283 - Occasional53
HP:0001508HP:0001531Failure to thrive in infancy1BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001508HP:0001531Failure to thrive in infancy1CARS1 CL E G H8331493OMIM:618891MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0001508HP:0001531Failure to thrive in infancy1CD19 CL E G H9301633ORPHA:1572Common variable immunodeficiencyHP:0040283 - Occasional38
HP:0001508HP:0008866Failure to thrive secondary to recurrent infections1CD247 CL E G H9191677ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zetaHP:0040282 - Frequent8
HP:0001508HP:0008866Failure to thrive secondary to recurrent infections1CD3D CL E G H9151673ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zetaHP:0040282 - Frequent18
HP:0001508HP:0008866Failure to thrive secondary to recurrent infections1CD3E CL E G H9161674ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zetaHP:0040282 - Frequent24
HP:0001508HP:0001531Failure to thrive in infancy1CD81 CL E G H9751701ORPHA:1572Common variable immunodeficiencyHP:0040283 - Occasional1
HP:0001508HP:0001531Failure to thrive in infancy1CD96 CL E G H1022516892ORPHA:1308C syndromeHP:0040282 - Frequent83
HP:0001508HP:0001525Severe failure to thrive1CLCNKA CL E G H11872026ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040283 - Occasional9
HP:0001508HP:0001525Severe failure to thrive1CLCNKB CL E G H11882027ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040283 - Occasional27
HP:0001508HP:0001531Failure to thrive in infancy1CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001508HP:0001531Failure to thrive in infancy1COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg52
HP:0001508HP:0001531Failure to thrive in infancy1COG4 CL E G H2583918620ORPHA:263501COG4-CDGHP:0040282 - Frequent67
HP:0001508HP:0001531Failure to thrive in infancy1COG8 CL E G H8434218623OMIM:611182Congenital disorder of glycosylation, type IIh39
HP:0001508HP:0001531Failure to thrive in infancy1COPB2 CL E G H92762232OMIM:617800Microcephaly 19, primary, autosomal recessive.
HP:0001508HP:0001531Failure to thrive in infancy1COX5A CL E G H93772267OMIM:619064MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0001508HP:0001531Failure to thrive in infancy1CR2 CL E G H13802336ORPHA:1572Common variable immunodeficiencyHP:0040283 - Occasional10
HP:0001508HP:0001531Failure to thrive in infancy1CSF2RA CL E G H14382435ORPHA:264675Hereditary pulmonary alveolar proteinosisHP:0040282 - Frequent15
HP:0001508HP:0001531Failure to thrive in infancy1CSF2RB CL E G H14392436ORPHA:264675Hereditary pulmonary alveolar proteinosisHP:0040282 - Frequent17
HP:0001508HP:0001531Failure to thrive in infancy1CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic.178
HP:0001508HP:0001531Failure to thrive in infancy1DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent33
HP:0001508HP:0001531Failure to thrive in infancy1DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001508HP:0001531Failure to thrive in infancy1DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletionHP:0040282 - Frequent134
HP:0001508HP:0001531Failure to thrive in infancy1DYRK1A CL E G H18593091OMIM:614104Mental retardation, autosomal dominant 7.134
HP:0001508HP:0001531Failure to thrive in infancy1ECE1 CL E G H18893146ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional13
HP:0001508HP:0001531Failure to thrive in infancy1EDN3 CL E G H19083178ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional67
HP:0001508HP:0001531Failure to thrive in infancy1EDNRB CL E G H19103180ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional55
HP:0001508HP:0001531Failure to thrive in infancy1EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001508HP:0001531Failure to thrive in infancy1ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040281 - Very frequent172
HP:0001508HP:0001531Failure to thrive in infancy1ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0001508HP:0001531Failure to thrive in infancy1ENPP1 CL E G H51673356ORPHA:51608Generalized arterial calcification of infancyHP:0040283 - Occasional151
HP:0001508HP:0001531Failure to thrive in infancy1ERBB2 CL E G H20643430ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional77
HP:0001508HP:0001531Failure to thrive in infancy1ERBB3 CL E G H20653431ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional12
HP:0001508HP:0001531Failure to thrive in infancy1ERCC1 CL E G H20673433OMIM:610758Cerebrooculofacioskeletal syndrome 4.20
HP:0001508HP:0001525Severe failure to thrive1ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0001508HP:0001531Failure to thrive in infancy1FDFT1 CL E G H22223629OMIM:618156SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0001508HP:0001531Failure to thrive in infancy1FGFR1 CL E G H22603688ORPHA:2645Osteoglosphonic dysplasiaHP:0040282 - Frequent172
HP:0001508HP:0001531Failure to thrive in infancy1FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0001508HP:0001525Severe failure to thrive1FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome.111
HP:0001508HP:0001525Severe failure to thrive1FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent111
HP:0001508HP:0001531Failure to thrive in infancy1FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001508HP:0001531Failure to thrive in infancy1FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent
HP:0001508HP:0001531Failure to thrive in infancy1FOXP1 CL E G H270863823OMIM:613670Mental retardation with language impairment and with or without autistic features184
HP:0001508HP:0001531Failure to thrive in infancy1FOXP3 CL E G H509436106ORPHA:37042Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndromeHP:0040282 - Frequent32
HP:0001508HP:0001531Failure to thrive in infancy1GDNF CL E G H26684232ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional59
HP:0001508HP:0001531Failure to thrive in infancy1GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0001508HP:0001531Failure to thrive in infancy1GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0001508HP:0001531Failure to thrive in infancy1GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0001508HP:0001531Failure to thrive in infancy1HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040282 - Frequent99
HP:0001508HP:0001531Failure to thrive in infancy1HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040282 - Frequent60
HP:0001508HP:0001531Failure to thrive in infancy1HBB CL E G H30434827ORPHA:231214Beta-thalassemia majorHP:0040282 - Frequent580
HP:0001508HP:0001531Failure to thrive in infancy1HBB CL E G H30434827ORPHA:231226Dominant beta-thalassemiaHP:0040283 - Occasional580
HP:0001508HP:0001531Failure to thrive in infancy1HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0001508HP:0001531Failure to thrive in infancy1HPDL CL E G H8484228242OMIM:619026NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0001508HP:0001531Failure to thrive in infancy1HRAS CL E G H32655173ORPHA:3071Costello syndromeHP:0040281 - Very frequent113
HP:0001508HP:0001525Severe failure to thrive1HYMAI CL E G H570615326OMIM:601410Diabetes mellitus, transient neonatal, 1.
HP:0001508HP:0001531Failure to thrive in infancy1ICOS CL E G H298515351ORPHA:1572Common variable immunodeficiencyHP:0040283 - Occasional32
HP:0001508HP:0001531Failure to thrive in infancy1IL1RN CL E G H35576000OMIM:612852Interleukin 1 receptor antagonist deficiency40
HP:0001508HP:0001531Failure to thrive in infancy1IL2RA CL E G H35596008OMIM:606367IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD4165
HP:0001508HP:0008866Failure to thrive secondary to recurrent infections1IL7R CL E G H35756024OMIM:608971Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive.94
HP:0001508HP:0001525Severe failure to thrive1INSR CL E G H36436091OMIM:246200Donohue syndrome.229
HP:0001508HP:0001531Failure to thrive in infancy1IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0001508HP:0001531Failure to thrive in infancy1IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent119
HP:0001508HP:0001531Failure to thrive in infancy1IRF2BP2 CL E G H35994821729ORPHA:1572Common variable immunodeficiencyHP:0040283 - Occasional4
HP:0001508HP:0001531Failure to thrive in infancy1ITCH CL E G H8373713890OMIM:613385AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD3
HP:0001508HP:0001531Failure to thrive in infancy1ITCH CL E G H8373713890ORPHA:228426Syndromic multisystem autoimmune disease due to Itch deficiencyHP:0040281 - Very frequent3
HP:0001508HP:0001531Failure to thrive in infancy1JAK3 CL E G H37186193ORPHA:35078T-B+ severe combined immunodeficiency due to JAK3 deficiencyHP:0040283 - Occasional140
HP:0001508HP:0001531Failure to thrive in infancy1KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndromeHP:0040282 - Frequent
HP:0001508HP:0001531Failure to thrive in infancy1KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndromeHP:0040281 - Very frequent196
HP:0001508HP:0001531Failure to thrive in infancy1LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001508HP:0001525Severe failure to thrive1LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040281 - Very frequent645
HP:0001508HP:0001531Failure to thrive in infancy1LTC4S CL E G H40566719OMIM:614037LEUKOTRIENE C4 SYNTHASE DEFICIENCY1
HP:0001508HP:0001531Failure to thrive in infancy1MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0001508HP:0001531Failure to thrive in infancy1MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome.63
HP:0001508HP:0001531Failure to thrive in infancy1MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndromeHP:0040281 - Very frequent134
HP:0001508HP:0001531Failure to thrive in infancy1MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1.134
HP:0001508HP:0001531Failure to thrive in infancy1MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndromeHP:0040281 - Very frequent178
HP:0001508HP:0001531Failure to thrive in infancy1MCCC1 CL E G H569226936ORPHA:63-methylcrotonyl-CoA carboxylase deficiencyHP:0040282 - Frequent81
HP:0001508HP:0001531Failure to thrive in infancy1MCCC2 CL E G H640876937ORPHA:63-methylcrotonyl-CoA carboxylase deficiencyHP:0040282 - Frequent77
HP:0001508HP:0001531Failure to thrive in infancy1METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0001508HP:0001531Failure to thrive in infancy1MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0001508HP:0001531Failure to thrive in infancy1MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0001508HP:0001531Failure to thrive in infancy1MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0001508HP:0001531Failure to thrive in infancy1MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0001508HP:0001531Failure to thrive in infancy1MS4A1 CL E G H9317315ORPHA:1572Common variable immunodeficiencyHP:0040283 - Occasional1
HP:0001508HP:0001531Failure to thrive in infancy1MVK CL E G H45987530OMIM:610377Mevalonic aciduria150
HP:0001508HP:0001531Failure to thrive in infancy1MYOD1 CL E G H46547611OMIM:618975MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0001508HP:0001525Severe failure to thrive1NALCN CL E G H25923219082ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040282 - Frequent48
HP:0001508HP:0001531Failure to thrive in infancy1NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040281 - Very frequent13
HP:0001508HP:0001531Failure to thrive in infancy1NDUFA4 CL E G H46977687OMIM:619065MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN214
HP:0001508HP:0001531Failure to thrive in infancy1NFKB1 CL E G H47907794ORPHA:1572Common variable immunodeficiencyHP:0040283 - Occasional7
HP:0001508HP:0001531Failure to thrive in infancy1NFKB2 CL E G H47917795ORPHA:1572Common variable immunodeficiencyHP:0040283 - Occasional11
HP:0001508HP:0001531Failure to thrive in infancy1NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0001508HP:0001531Failure to thrive in infancy1NRTN CL E G H49028007ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional4
HP:0001508HP:0001531Failure to thrive in infancy1NSMCE3 CL E G H561607677OMIM:617241LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS2
HP:0001508HP:0001531Failure to thrive in infancy1OTULIN CL E G H9026825118OMIM:617099AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS3
HP:0001508HP:0001525Severe failure to thrive1PEX7 CL E G H51918860OMIM:215100Rhizomelic chondrodysplasia punctata, type 1.72
HP:0001508HP:0001531Failure to thrive in infancy1POLA1 CL E G H54229173OMIM:301220PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR2
HP:0001508HP:0001531Failure to thrive in infancy1PRKCD CL E G H55809399ORPHA:1572Common variable immunodeficiencyHP:0040283 - Occasional10
HP:0001508HP:0001525Severe failure to thrive1PRPS1 CL E G H56319462ORPHA:423479X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndromeHP:0040282 - Frequent49
HP:0001508HP:0001531Failure to thrive in infancy1PSAT1 CL E G H2996819129ORPHA:284417Phosphoserine aminotransferase deficiency, infantile/juvenile formHP:0040281 - Very frequent27
HP:0001508HP:0001531Failure to thrive in infancy1PSMB10 CL E G H56999538OMIM:619175PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5
HP:0001508HP:0001531Failure to thrive in infancy1PSMD12 CL E G H57189557ORPHA:52996217q24.2 microdeletion syndromeHP:0040282 - Frequent4
HP:0001508HP:0001531Failure to thrive in infancy1PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1.291
HP:0001508HP:0001531Failure to thrive in infancy1PUS3 CL E G H8348025461ORPHA:488627Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndromeHP:0040281 - Very frequent1
HP:0001508HP:0001531Failure to thrive in infancy1PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0001508HP:0001531Failure to thrive in infancy1PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0001508HP:0001531Failure to thrive in infancy1PYGL CL E G H58369725OMIM:232700Glycogen storage disease VI71
HP:0001508HP:0001531Failure to thrive in infancy1RAC2 CL E G H58809802OMIM:618987IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C9
HP:0001508HP:0008866Failure to thrive secondary to recurrent infections1RAG1 CL E G H58969831OMIM:601457Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive.127
HP:0001508HP:0008866Failure to thrive secondary to recurrent infections1RAG2 CL E G H58979832OMIM:601457Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive.50
HP:0001508HP:0001531Failure to thrive in infancy1RAI1 CL E G H107439834ORPHA:477817PMP22-RAI1 contiguous gene duplication syndromeHP:0040282 - Frequent150
HP:0001508HP:0001531Failure to thrive in infancy1RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent150
HP:0001508HP:0001531Failure to thrive in infancy1RECQL4 CL E G H94019949ORPHA:1225Baller-Gerold syndromeHP:0040281 - Very frequent445
HP:0001508HP:0001531Failure to thrive in infancy1RET CL E G H59799967ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional572
HP:0001508HP:0001531Failure to thrive in infancy1RET CL E G H59799967OMIM:162300Multiple endocrine neoplasia, type IIB.572
HP:0001508HP:0001531Failure to thrive in infancy1RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001508HP:0001525Severe failure to thrive1RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiencyHP:0040282 - Frequent113
HP:0001508HP:0001531Failure to thrive in infancy1SCNN1A CL E G H633710599ORPHA:171876Generalized pseudohypoaldosteronism type 1HP:0040282 - Frequent67
HP:0001508HP:0001531Failure to thrive in infancy1SCNN1B CL E G H633810600ORPHA:171876Generalized pseudohypoaldosteronism type 1HP:0040282 - Frequent61
HP:0001508HP:0001531Failure to thrive in infancy1SCNN1G CL E G H634010602ORPHA:171876Generalized pseudohypoaldosteronism type 1HP:0040282 - Frequent57
HP:0001508HP:0001531Failure to thrive in infancy1SEMA3C CL E G H1051210725ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional1
HP:0001508HP:0001531Failure to thrive in infancy1SEMA3D CL E G H22311710726ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional2
HP:0001508HP:0001531Failure to thrive in infancy1SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndromeHP:0040282 - Frequent143
HP:0001508HP:0001531Failure to thrive in infancy1SLC16A2 CL E G H656710923ORPHA:59Allan-Herndon-Dudley syndromeHP:0040282 - Frequent57
HP:0001508HP:0001531Failure to thrive in infancy1SLC25A13 CL E G H1016510983ORPHA:247598Neonatal intrahepatic cholestasis due to citrin deficiencyHP:0040282 - Frequent82
HP:0001508HP:0001531Failure to thrive in infancy1SLC30A9 CL E G H104631329OMIM:617595Birk-Landau-Perez syndrome1
HP:0001508HP:0001531Failure to thrive in infancy1SLC35A2 CL E G H735511022ORPHA:356961SLC35A2-CDGHP:0040282 - Frequent27
HP:0001508HP:0001531Failure to thrive in infancy1SLC39A8 CL E G H6411620862ORPHA:468699SLC39A8-CDGHP:0040282 - Frequent11
HP:0001508HP:0001531Failure to thrive in infancy1SMO CL E G H660811119ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional22
HP:0001508HP:0001531Failure to thrive in infancy1SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0001508HP:0001531Failure to thrive in infancy1SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0001508HP:0001531Failure to thrive in infancy1SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040282 - Frequent12
HP:0001508HP:0001531Failure to thrive in infancy1SP110 CL E G H34315401ORPHA:79124Hepatic veno-occlusive disease-immunodeficiency syndromeHP:0040282 - Frequent49
HP:0001508HP:0001531Failure to thrive in infancy1SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0001508HP:0001531Failure to thrive in infancy1SREBF1 CL E G H672011289ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional1
HP:0001508HP:0001531Failure to thrive in infancy1STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001508HP:0001531Failure to thrive in infancy1TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001508HP:0001531Failure to thrive in infancy1TGFB3 CL E G H704311769OMIM:615582LOEYS-DIETZ SYNDROME 5; LDS585
HP:0001508HP:0001531Failure to thrive in infancy1TK2 CL E G H708411831ORPHA:254875Mitochondrial DNA depletion syndrome, myopathic formHP:0040282 - Frequent103
HP:0001508HP:0001531Failure to thrive in infancy1TKFC CL E G H2600724552OMIM:618805TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0001508HP:0001531Failure to thrive in infancy1TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001508HP:0001531Failure to thrive in infancy1TNFRSF13B CL E G H2349518153ORPHA:1572Common variable immunodeficiencyHP:0040283 - Occasional32
HP:0001508HP:0001531Failure to thrive in infancy1TNFRSF13C CL E G H11565017755ORPHA:1572Common variable immunodeficiencyHP:0040283 - Occasional12
HP:0001508HP:0001531Failure to thrive in infancy1TNFSF12 CL E G H874211927ORPHA:1572Common variable immunodeficiencyHP:0040283 - Occasional1
HP:0001508HP:0001531Failure to thrive in infancy1TOM1 CL E G H1004311982OMIM:619510IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0001508HP:0001531Failure to thrive in infancy1UNC80 CL E G H28517526582OMIM:616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 223
HP:0001508HP:0001525Severe failure to thrive1UNC80 CL E G H28517526582ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040282 - Frequent23
HP:0001508HP:0001525Severe failure to thrive1VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent6
HP:0001508HP:0001531Failure to thrive in infancy1VPS13B CL E G H1576802183ORPHA:193Cohen syndromeHP:0040282 - Frequent546
HP:0001508HP:0001531Failure to thrive in infancy1VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001508HP:0001531Failure to thrive in infancy1YARS1 CL E G H856512840OMIM:619418NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0001508HP:0001525Severe failure to thrive1ZFP57 CL E G H34617118791OMIM:601410Diabetes mellitus, transient neonatal, 1.30
HP:0001508HP:0001525Severe failure to thrive1ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040281 - Very frequent83


Genes (1070) :AARS1 AARS2 AASS ABCA12 ABCA3 ABCB11 ABCC6 ABCC8 ABCD1 ABCD4 ABL1 ACAD9 ACADS ACD ACO2 ACOX1 ACSF3 ACTA1 ACTB ACTG1 ACTL6B ACVR1 ADA ADAM17 ADAR ADAT3 ADCY5 ADH5 ADK AFF3 AGPAT2 AGPS AGTPBP1 AGXT AHCY AHDC1 AIMP1 AK2 AKR1D1 AKT1 ALAD ALDH18A1 ALDOB ALG11 ALG12 ALG3 ALG6 ALG8 ALG9 ALOX12B ALOXE3 ALPL AMACR AMER1 AMN ANKRD55 ANO1 ANTXR2 AP1B1 AP3B2 AQP2 ARCN1 ARFGEF2 ARHGAP31 ARID1B ARPC1B ARV1 ARVCF ARX ASAH1 ASCL1 ASL ASNS ASS1 ASXL1 ASXL3 ATM ATP1A2 ATP1A3 ATP5F1A ATP6 ATP6AP1 ATP6V0A2 ATP6V0A4 ATP6V1A ATP6V1E1 ATP7A ATP7B ATP8B1 ATPAF2 ATXN7 AUH AVPR2 B3GALT6 B4GALT7 BANF1 BAZ1B BCAP31 BCL7B BCS1L BICRA BLNK BMP4 BMPR1A BPTF BRAF BRCA1 BRCA2 BRD4 BRF1 BSCL2 BSND BTK BUD23 C2ORF69 CA12 CA2 CACNA1A CACNA1B CACNA2D1 CAMKMT CARMIL2 CARS1 CARS2 CASK CASP8 CASR CASZ1 CAV1 CAVIN1 CBS CD19 CD247 CD3D CD3E CD3G CD40LG CD79A CD79B CD81 CD96 CDC45 CDC6 CDK19 CDKL5 CDON CDT1 CEACAM3 CEACAM6 CELF2 CENPT CERS3 CFTR CHD7 CHRM3 CHRNA3 CHRNG CIITA CIT CLCA4 CLCN3 CLCNKA CLCNKB CLDN16 CLIP2 CLMP CLTC CNKSR2 COA8 COG1 COG4 COG6 COG7 COG8 COL12A1 COL4A5 COL4A6 COL6A1 COL6A2 COL6A3 COL7A1 COMT COPB2 COX1 COX10 COX15 COX2 COX3 COX4I1 COX4I2 COX5A COX7B CPLANE1 CPLX1 CPS1 CPSF3 CR2 CREBBP CSF2RA CSF2RB CSNK2A1 CSPP1 CTBP1 CTCF CTNS CUBN CUL3 CYB5A CYC1 CYFIP2 CYP11A1 CYP11B2 CYP17A1 CYP24A1 CYP27B1 CYP2R1 CYP7B1 CYTB DACT1 DALRD3 DCLRE1C DCTN4 DDB2 DDOST DEAF1 DEGS1 DGAT1 DGUOK DHCR24 DHCR7 DHDDS DISP1 DKC1 DLD DLL1 DLL4 DMXL2 DNAJC21 DNAJC30 DNASE2 DNM1 DNM1L DNMT3B DOCK6 DOLK DPAGT1 DPM1 DPM2 DPYD DSP DYM DYNC2I1 DYNC2LI1 DYRK1A EARS2 EBP ECE1 ECHS1 EDN3 EDNRA EDNRB EEF1A2 EFL1 EGFR EHMT1 EIF4H EIF5A ELAC2 ELMO2 ELN EN1 ENPP1 EOGT EP300 EPCAM EPG5 EPRS1 ERBB2 ERBB3 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERMARD ETHE1 EVC EVC2 EXOC6B EXOSC3 EXOSC8 EXOSC9 FAH FAM111A FAM149B1 FANCF FARSB FBN1 FBXL4 FCGR2A FDFT1 FDXR FGD1 FGF12 FGF13 FGF8 FGFR1 FGFRL1 FH FIG4 FKBP6 FLCN FLII FLNA FMR1 FOCAD FOS FOXH1 FOXP1 FOXP3 FOXRED1 FTO FUCA1 FUT8 FZR1 G6PC3 GAA GABBR2 GABRA2 GABRA5 GABRB2 GABRD GABRG2 GALC GALE GALK1 GALM GALT GAS1 GATA6 GATM GBA1 GBE1 GCDH GCK GCLC GDNF GFAP GGPS1 GJA1 GJA5 GJA8 GJB2 GJB6 GLB1 GLI1 GLI2 GLUD1 GLYCTK GMNN GNAO1 GNB1 GNB2 GNPAT GNPTAB GP1BB GPIHBP1 GPR161 GPT2 GRB10 GRIA4 GRIN1 GRIN2D GRM7 GSTM3 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 GTPBP3 GYS2 H19 H3-3B H4C5 HACD1 HADH HADHA HADHB HBA1 HBA2 HBB HCCS HCFC1 HCN1 HDAC8 HERC2 HESX1 HEXB HFE HIBCH HIKESHI HIRA HIVEP2 HLA-DQA1 HLA-DQB1 HMGA2 HMOX1 HNRNPH1 HNRNPH2 HPD HPDL HRAS HSD11B2 HSD17B4 HSD3B2 HSD3B7 HSPG2 HTRA2 HYMAI IARS1 ICOS IDH1 IFNG IFT140 IGF1 IGF2 IGHM IGHMBP2 IGLL1 IKBKB IL1RN IL21 IL21R IL2RA IL2RB IL2RG IL7R INS INSR IPO8 IPW IQSEC2 IRF2BP2 IRF8 ITCH ITGA7 JAG1 JAGN1 JAK1 JAK3 JMJD1C KANSL1 KARS1 KAT6B KCNA1 KCNA2 KCNAB2 KCNB1 KCNJ1 KCNJ11 KCNJ6 KCNN4 KDM5C KDM6A KIAA0586 KIAA0753 KIF15 KIF1B KIF7 KLLN KMT2A KMT2C KMT2D KMT5B KRAS KRT14 KRT16 KRT17 KRT5 KRT6A KRT6B LAMA3 LAMB3 LAMC2 LARS1 LAT LBR LCK LEMD3 LETM1 LGI3 LHX4 LIG4 LIMK1 LINS1 LIPA LIPT1 LMBRD1 LMNA LMNB1 LPIN2 LRBA LRPPRC LRRC8A LRRK1 LTC4S LUZP1 LYRM4 LYRM7 MAGEL2 MAP2K1 MAP2K2 MAP3K20 MAP3K7 MAPKAPK5 MARS1 MBL2 MBTPS2 MC2R MCCC1 MCCC2 MCEE MCM4 MCTP2 MDH2 MECP2 MECR MED12 MED17 MEGF10 METTL27 MGAT2 MICOS13 MIF MIPEP MKKS MKRN3 MKRN3-AS1 MLXIPL MMAA MMAB MMACHC MMADHC MMP23B MMUT MPDU1 MPI MPV17 MRAP MRPL12 MRPL3 MRPS14 MRPS2 MRPS28 MRPS7 MS4A1 MSMO1 MTFMT MTHFR MTO1 MTR MTRFR MTRR MTTP MVK MYH3 MYH7 MYL2 MYMK MYMX MYO5B MYOD1 NACC1 NADK2 NAGS NALCN NCAPG2 NCF1 ND1 ND2 ND3 ND4 ND5 ND6 NDN NDP NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA6 NDUFA8 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB8 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NECAP1 NELFA NEUROD2 NEUROG3 NEXMIF NFASC NFE2L2 NFIX NFKB1 NFKB2 NFU1 NGLY1 NHLRC2 NIPAL4 NIPBL NKX2-1 NLRC4 NLRP1 NNT NODAL NONO NOTCH1 NOTCH2 NPAP1 NR0B1 NR1H4 NR3C2 NRCAM NRTN NSD2 NSMCE3 NSRP1 NSUN3 NTRK2 NUBPL NUP214 NUP62 NUS1 OCA2 OCLN OCRL OFD1 OGDHL ORAI1 ORC1 ORC4 ORC6 OSGEP OTC OTUD6B OTULIN PACS1 PARN PARS2 PAX2 PBX1 PCCA PCCB PCGF2 PCSK1 PDE6D PDHA1 PDHX PDPN PDX1 PEPD PERCC1 PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP1 PGM3 PHGDH PHKA2 PHKG2 PHOX2B PIEZO2 PIGB PIGG PIGP PIGQ PIK3CA PIK3R1 PKP1 PLAA PLAGL1 PLCH1 PLP1 PMM2 PMPCB PNKP PNP PNPLA1 PNPO PNPT1 POC1A POGZ POLA1 POLG POLG2 POLR1B POLR1C POLR1D POLR2A POLR3A POLR3K POMC POMP POU1F1 PPARG PPFIBP1 PPM1B PPP1CB PPP3CA PRDM16 PRDX1 PREPL PRF1 PRKACA PRKACB PRKCD PRKCZ PROKR2 PRPS1 PSAP PSAT1 PSMB10 PSMB4 PSMB8 PSMB9 PSMC1 PSMD12 PTCH1 PTDSS1 PTEN PTF1A PTPN11 PTPN2 PTPN22 PTRH2 PUS1 PUS3 PWAR1 PWRN1 PYCR1 PYCR2 PYGL RAB3GAP1 RAC2 RAD21 RAG1 RAG2 RAI1 RAPSN RARB RARS2 RASGRP1 RBCK1 RBM10 RBPJ RECQL4 RELB RERE RET RFC2 RFT1 RFX5 RFXANK RFXAP RIPK1 RIT1 RMRP RNF13 RNF2 RNU4ATAC RNU7-1 ROBO1 RPL5 RPS19 RREB1 RRM2B RTEL1 RTTN RYR1 SALL1 SAR1B SARS2 SBDS SC5D SCN1B SCN2A SCN3A SCN8A SCNN1A SCNN1B SCNN1G SCO1 SCO2 SDHA SDHB SDHC SDHD SEC23B SEC24C SEC31A SELENON SEMA3C SEMA3D SERAC1 SERPINA1 SETBP1 SFTPB SFTPC SGO1 SH2B1 SH3TC2 SHH SHOC2 SIK1 SIL1 SIM1 SIN3A SIX3 SKI SKIC2 SKIC3 SLC10A2 SLC11A1 SLC12A1 SLC12A3 SLC13A5 SLC16A2 SLC17A5 SLC19A3 SLC1A2 SLC1A3 SLC22A5 SLC25A13 SLC25A15 SLC25A21 SLC25A22 SLC25A24 SLC25A3 SLC25A4 SLC25A46 SLC26A3 SLC26A9 SLC2A2 SLC30A9 SLC34A1 SLC34A3 SLC35A2 SLC35C1 SLC37A4 SLC38A3 SLC39A13 SLC39A4 SLC39A7 SLC39A8 SLC3A1 SLC46A1 SLC4A1 SLC51A SLC5A1 SLC6A14 SLC6A8 SLC7A7 SLC9A3 SMAD4 SMARCA2 SMARCAL1 SMARCC2 SMARCD2 SMC1A SMC3 SMO SMOC1 SMPD1 SNAP29 SNORD115-1 SNORD116-1 SNRPN SNX10 SON SOX9 SP110 SPATA5 SPEN SPINK5 SPOP SPTBN1 SRD5A3 SREBF1 SRP54 SSR4 ST3GAL5 STAG1 STAG2 STAMBP STAR STAT3 STAT4 STAT5B STIL STING1 STRA6 STRADA STT3A STT3B STX1A SUCLA2 SUCLG1 SUGCT SURF1 SYNGAP1 SYNJ1 SYT2 SZT2 TACO1 TAFAZZIN TALDO1 TAOK1 TASP1 TBL1XR1 TBL2 TBR1 TBX1 TBX4 TCF3 TCF4 TCIRG1 TCN2 TCOF1 TCTN3 TDGF1 TERT TFAM TFRC TGDS TGFB1 TGFB3 TGIF1 TGM1 TIMM50 TIMMDC1 TINF2 TJP2 TK2 TKFC TLK2 TLL1 TMEM106B TMEM126B TMEM165 TMEM216 TMEM270 TMEM70 TMPRSS15 TNFRSF11B TNFRSF13B TNFRSF13C TNFSF12 TNPO2 TOM1 TOPORS TPI1 TPM2 TPM3 TRAC TRAK1 TRAPPC2 TRIM8 TRIO TRIT1 TRMT10C TRMT5 TRNF TRNH TRNK TRNL1 TRNN TRNQ TRNS1 TRNS2 TRNV TRNW TSHB TTC26 TTN TWIST2 TWNK TXNRD2 TYMS UBA2 UBA5 UBE3B UBE4B UBR1 UFC1 UFD1 UMPS UNC45A UNC80 UQCC2 USF3 USP7 VAC14 VDR VHL VIPAS39 VPS13B VPS33B VPS37A VPS37D VPS45 VPS51 VPS53 VRK1 WDR11 WDR26 WDR4 WDR62 WNT2B WWOX XPA XPC YARS1 YARS2 YWHAG ZAP70 ZEB2 ZFP57 ZIC2 ZIC3 ZMPSTE24 ZNF699 ZNFX1 ZSWIM6

Diseases (882) :OMIM:616339 ORPHA:442835 OMIM:614096 ORPHA:2203 ORPHA:79394 OMIM:610921 OMIM:601847 ORPHA:51608 ORPHA:99885 ORPHA:99886 ORPHA:388 OMIM:614857 OMIM:617602 ORPHA:99901 OMIM:201470 ORPHA:26792 ORPHA:3322 OMIM:614559 ORPHA:2971 ORPHA:289504 OMIM:614265 ORPHA:2020 OMIM:255310 ORPHA:2995 OMIM:243310 ORPHA:337 ORPHA:39041 ORPHA:277 OMIM:102700 OMIM:614328 ORPHA:225154 ORPHA:363528 OMIM:615286 OMIM:619651 OMIM:619151 OMIM:614300 OMIM:619297 ORPHA:528 OMIM:600121 OMIM:618276 ORPHA:2254 ORPHA:93598 OMIM:613752 ORPHA:88618 ORPHA:412069 OMIM:615829 OMIM:260600 ORPHA:33355 OMIM:235555 ORPHA:79303 ORPHA:201 OMIM:612740 OMIM:219150 OMIM:229600 ORPHA:280071 ORPHA:79324 OMIM:607143 OMIM:601110 ORPHA:79320 ORPHA:79325 OMIM:608104 OMIM:608776 OMIM:241500 OMIM:214950 OMIM:300373 ORPHA:35858 ORPHA:85410 OMIM:620045 OMIM:228600 ORPHA:2176 OMIM:242150 OMIM:125800 ORPHA:223 OMIM:617164 OMIM:608097 ORPHA:974 ORPHA:251056 OMIM:617718 ORPHA:567 ORPHA:1934 ORPHA:333 OMIM:228000 ORPHA:99803 OMIM:207900 OMIM:615574 OMIM:215700 ORPHA:97297 OMIM:605039 OMIM:615485 OMIM:208900 ORPHA:100 ORPHA:2131 OMIM:616045 ORPHA:255210 OMIM:300972 ORPHA:357074 OMIM:219200 OMIM:278250 ORPHA:2834 OMIM:602722 OMIM:617403 ORPHA:905 OMIM:211600 OMIM:604273 ORPHA:94147 ORPHA:67046 OMIM:250950 OMIM:304800 OMIM:609465 ORPHA:93359 OMIM:130070 OMIM:614008 ORPHA:904 OMIM:300475 ORPHA:369939 OMIM:124000 OMIM:619325 ORPHA:33110 OMIM:607932 OMIM:174900 ORPHA:529962 ORPHA:1340 OMIM:115150 OMIM:163950 OMIM:617883 OMIM:605724 ORPHA:199 ORPHA:444072 OMIM:602522 ORPHA:89938 ORPHA:47 OMIM:619423 OMIM:143860 ORPHA:2785 ORPHA:163693 OMIM:618131 OMIM:618891 OMIM:616672 ORPHA:163937 OMIM:607271 OMIM:239200 ORPHA:1606 OMIM:606721 OMIM:613327 OMIM:236200 ORPHA:1572 ORPHA:169160 OMIM:615617 OMIM:615607 OMIM:308230 OMIM:613501 OMIM:211750 ORPHA:1308 ORPHA:2554 OMIM:613805 ORPHA:93925 ORPHA:93924 ORPHA:93926 ORPHA:95496 ORPHA:220386 OMIM:613804 ORPHA:586 OMIM:618702 OMIM:219700 ORPHA:2970 OMIM:191800 ORPHA:2990 OMIM:209920 ORPHA:572 OMIM:617090 OMIM:619512 OMIM:613090 ORPHA:358 OMIM:248250 OMIM:615237 ORPHA:436271 ORPHA:263508 OMIM:611209 ORPHA:263501 OMIM:613489 OMIM:614576 ORPHA:79333 OMIM:608779 ORPHA:95428 OMIM:611182 ORPHA:536516 ORPHA:1018 OMIM:254090 ORPHA:89842 OMIM:617800 ORPHA:550 OMIM:619046 ORPHA:255241 OMIM:619060 OMIM:612714 OMIM:619064 ORPHA:2556 ORPHA:2754 OMIM:277170 ORPHA:280 OMIM:194190 OMIM:237300 OMIM:619876 OMIM:180849 ORPHA:353281 ORPHA:353277 ORPHA:264675 OMIM:300770 OMIM:617062 ORPHA:397715 ORPHA:363611 OMIM:219800 ORPHA:411629 ORPHA:411634 OMIM:619239 ORPHA:90796 OMIM:615453 ORPHA:168558 ORPHA:289548 OMIM:203400 ORPHA:556030 OMIM:610600 ORPHA:90793 OMIM:143880 ORPHA:289157 OMIM:264700 OMIM:600081 OMIM:613812 ORPHA:137675 ORPHA:857 OMIM:603554 ORPHA:275 OMIM:602450 ORPHA:910 OMIM:614507 ORPHA:300536 ORPHA:819 OMIM:618404 OMIM:615863 OMIM:251880 OMIM:602398 ORPHA:35107 OMIM:270400 OMIM:613861 ORPHA:2394 OMIM:617052 ORPHA:811 OMIM:260400 OMIM:619858 OMIM:614388 OMIM:242860 OMIM:610768 ORPHA:91131 ORPHA:86309 OMIM:608799 ORPHA:79322 ORPHA:329178 OMIM:274270 OMIM:607655 ORPHA:239 OMIM:615503 ORPHA:289 ORPHA:268261 ORPHA:464311 OMIM:614104 OMIM:614924 OMIM:302960 ORPHA:401973 OMIM:617941 OMIM:616069 ORPHA:96147 ORPHA:261652 OMIM:619376 OMIM:615440 ORPHA:3019 OMIM:194050 OMIM:619218 ORPHA:353284 ORPHA:92050 OMIM:613217 OMIM:242840 OMIM:617951 OMIM:610758 ORPHA:90321 OMIM:610965 OMIM:214150 OMIM:133540 OMIM:216400 ORPHA:75857 OMIM:602473 ORPHA:51188 OMIM:616081 OMIM:618065 OMIM:276700 OMIM:602361 OMIM:603467 OMIM:613658 ORPHA:2462 OMIM:615471 OMIM:618156 ORPHA:543470 OMIM:305400 OMIM:166250 ORPHA:2645 OMIM:606812 OMIM:216340 ORPHA:3472 OMIM:610883 OMIM:309350 ORPHA:90652 ORPHA:261483 OMIM:619991 ORPHA:391372 OMIM:613670 ORPHA:37042 OMIM:304790 ORPHA:2609 OMIM:612938 ORPHA:349 OMIM:618005 OMIM:612541 ORPHA:308552 ORPHA:206436 OMIM:245200 OMIM:230350 ORPHA:79237 ORPHA:570422 OMIM:230400 OMIM:600001 ORPHA:2255 OMIM:612718 OMIM:230900 OMIM:232500 OMIM:231670 ORPHA:363717 OMIM:619518 OMIM:257850 OMIM:612474 ORPHA:477 OMIM:230600 OMIM:606762 OMIM:220120 OMIM:616835 ORPHA:488613 OMIM:616973 OMIM:619503 OMIM:222765 OMIM:252500 OMIM:615947 OMIM:616281 ORPHA:477673 ORPHA:96182 OMIM:617864 OMIM:617162 OMIM:618922 OMIM:616395 OMIM:617988 ORPHA:444013 ORPHA:2089 ORPHA:231144 OMIM:619721 OMIM:619950 ORPHA:71212 ORPHA:5 ORPHA:746 OMIM:609015 ORPHA:98791 ORPHA:231214 ORPHA:231226 OMIM:309541 OMIM:176270 ORPHA:309162 ORPHA:88639 OMIM:616881 OMIM:616977 OMIM:212750 ORPHA:94063 OMIM:620083 OMIM:300986 ORPHA:2118 OMIM:140350 OMIM:619026 OMIM:218040 ORPHA:3071 OMIM:218030 ORPHA:320 OMIM:261515 ORPHA:90791 OMIM:607765 ORPHA:79301 OMIM:617248 OMIM:601410 OMIM:617093 ORPHA:99646 OMIM:618963 OMIM:266920 ORPHA:73272 OMIM:601495 OMIM:604320 OMIM:615592 OMIM:612852 OMIM:615767 OMIM:615207 OMIM:606367 OMIM:618495 OMIM:300400 ORPHA:276 OMIM:608971 ORPHA:169154 OMIM:246200 ORPHA:508 OMIM:619472 OMIM:226990 OMIM:613385 ORPHA:228426 OMIM:118450 OMIM:616022 OMIM:618999 OMIM:600802 ORPHA:35078 OMIM:610443 OMIM:619147 ORPHA:3047 OMIM:241200 ORPHA:435628 OMIM:614098 OMIM:300534 ORPHA:2322 ORPHA:261323 OMIM:256700 OMIM:200990 OMIM:605130 ORPHA:319182 OMIM:617788 ORPHA:3339 ORPHA:79396 ORPHA:89838 ORPHA:2309 OMIM:226700 ORPHA:79404 OMIM:615438 OMIM:617514 OMIM:169400 OMIM:615758 OMIM:620007 OMIM:606593 OMIM:614340 OMIM:278000 ORPHA:79284 OMIM:277380 ORPHA:79474 ORPHA:740 OMIM:613205 OMIM:619179 ORPHA:77297 OMIM:609628 OMIM:614700 ORPHA:70472 OMIM:220111 OMIM:615198 OMIM:614037 OMIM:615595 OMIM:615838 ORPHA:398069 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:615547 OMIM:615279 OMIM:157800 OMIM:619869 OMIM:615486 OMIM:614372 ORPHA:2273 ORPHA:361 OMIM:202200 OMIM:210200 ORPHA:6 OMIM:210210 OMIM:251120 OMIM:609981 ORPHA:1596 OMIM:617339 OMIM:300673 ORPHA:778 OMIM:617282 ORPHA:508093 OMIM:301068 OMIM:613668 OMIM:614399 OMIM:212066 ORPHA:79329 OMIM:618329 OMIM:617228 ORPHA:2473 OMIM:251100 OMIM:251110 ORPHA:79282 OMIM:277400 ORPHA:79283 OMIM:251000 ORPHA:79312 OMIM:609180 OMIM:602579 ORPHA:79319 OMIM:256810 OMIM:618951 OMIM:614582 OMIM:618378 OMIM:617950 OMIM:618958 OMIM:617872 OMIM:616834 ORPHA:395 OMIM:614702 OMIM:250940 ORPHA:254930 OMIM:613559 OMIM:236270 ORPHA:2169 ORPHA:14 OMIM:610377 OMIM:193700 ORPHA:2053 ORPHA:324604 OMIM:254940 OMIM:619941 OMIM:619868 OMIM:618975 OMIM:617393 ORPHA:500545 OMIM:616034 ORPHA:431361 ORPHA:927 OMIM:237310 ORPHA:371364 OMIM:618460 ORPHA:649 OMIM:618249 OMIM:619065 OMIM:619272 OMIM:618234 ORPHA:70474 OMIM:618237 OMIM:618238 OMIM:300952 OMIM:618246 OMIM:618252 OMIM:618226 OMIM:618228 OMIM:252010 OMIM:618229 OMIM:610370 OMIM:300912 OMIM:618356 OMIM:617744 ORPHA:561 OMIM:602535 ORPHA:293978 OMIM:605711 ORPHA:404454 OMIM:618278 ORPHA:209905 OMIM:616050 OMIM:617388 OMIM:614736 ORPHA:466791 OMIM:102500 ORPHA:955 OMIM:300200 OMIM:617049 OMIM:177735 OMIM:619833 OMIM:619695 OMIM:617241 OMIM:620001 OMIM:619012 OMIM:618426 OMIM:271930 OMIM:617082 OMIM:251290 OMIM:309000 ORPHA:534 OMIM:619701 OMIM:612782 OMIM:224690 OMIM:613800 OMIM:613803 OMIM:617729 OMIM:311250 ORPHA:505237 OMIM:617452 OMIM:617099 ORPHA:329224 OMIM:616353 ORPHA:97362 OMIM:606054 OMIM:618371 ORPHA:71528 ORPHA:255182 OMIM:260370 OMIM:170100 OMIM:619055 ORPHA:772 OMIM:214100 ORPHA:912 OMIM:266510 OMIM:614883 OMIM:614877 OMIM:614866 OMIM:214110 OMIM:215100 OMIM:615802 OMIM:615816 ORPHA:443811 ORPHA:79351 ORPHA:264580 ORPHA:2461 OMIM:618580 ORPHA:60040 ORPHA:158668 OMIM:617527 ORPHA:521426 OMIM:312080 ORPHA:280210 OMIM:212065 ORPHA:79318 OMIM:617954 OMIM:613179 ORPHA:79096 OMIM:610090 ORPHA:319514 OMIM:614813 OMIM:616364 OMIM:301220 ORPHA:163976 ORPHA:254892 OMIM:203700 OMIM:610131 ORPHA:861 OMIM:616494 OMIM:618603 OMIM:264090 ORPHA:3455 OMIM:619310 ORPHA:71526 OMIM:618048 OMIM:613038 OMIM:620024 OMIM:617506 ORPHA:163690 OMIM:603553 ORPHA:423479 ORPHA:284417 OMIM:619175 OMIM:617591 OMIM:256040 OMIM:620071 OMIM:151050 OMIM:609069 ORPHA:456312 OMIM:616263 OMIM:600462 ORPHA:488627 OMIM:612940 OMIM:616420 ORPHA:481152 ORPHA:369 OMIM:232700 OMIM:600118 OMIM:618987 ORPHA:331206 OMIM:601457 ORPHA:1713 ORPHA:477817 OMIM:616326 ORPHA:2470 OMIM:611523 OMIM:618534 OMIM:615895 OMIM:311900 ORPHA:2886 ORPHA:1225 OMIM:617585 OMIM:162300 OMIM:612015 ORPHA:244310 OMIM:618108 OMIM:615355 ORPHA:175 OMIM:618379 ORPHA:544503 OMIM:619460 OMIM:210710 OMIM:619487 OMIM:612561 OMIM:105650 OMIM:612075 ORPHA:468631 ORPHA:424107 OMIM:619542 ORPHA:71 OMIM:246700 OMIM:613845 ORPHA:46059 OMIM:617938 ORPHA:171876 OMIM:264350 OMIM:619048 OMIM:618651 OMIM:602771 OMIM:614739 OMIM:269150 ORPHA:798 OMIM:265120 OMIM:610913 OMIM:616201 ORPHA:261197 ORPHA:99949 OMIM:607721 OMIM:248800 ORPHA:398079 ORPHA:94065 OMIM:614602 OMIM:222470 OMIM:613291 OMIM:601678 OMIM:263800 ORPHA:59 OMIM:269920 OMIM:212140 OMIM:605814 ORPHA:247598 ORPHA:415 OMIM:238970 OMIM:618811 OMIM:612289 ORPHA:2963 ORPHA:91130 OMIM:214700 OMIM:227810 ORPHA:2088 OMIM:617595 OMIM:616963 OMIM:241530 ORPHA:356961 ORPHA:99843 OMIM:619525 ORPHA:79259 ORPHA:157965 ORPHA:37 OMIM:201100 OMIM:619693 ORPHA:468699 OMIM:229050 ORPHA:90045 OMIM:611590 OMIM:619484 ORPHA:35710 OMIM:606824 OMIM:300352 OMIM:222700 ORPHA:470 OMIM:601358 ORPHA:1830 OMIM:618362 OMIM:617475 ORPHA:1106 OMIM:257200 OMIM:609528 OMIM:615085 ORPHA:500150 OMIM:617140 OMIM:114290 ORPHA:79124 OMIM:616577 OMIM:256500 OMIM:618829 OMIM:619475 OMIM:612379 OMIM:300934 ORPHA:370927 OMIM:609056 ORPHA:502434 OMIM:301022 OMIM:614261 OMIM:245590 OMIM:615934 ORPHA:500533 OMIM:615596 ORPHA:370921 OMIM:615597 ORPHA:370924 OMIM:612073 ORPHA:17 OMIM:245400 ORPHA:35706 OMIM:231690 OMIM:220110 OMIM:619461 OMIM:302060 OMIM:606003 OMIM:619575 OMIM:618950 OMIM:602342 ORPHA:1617 ORPHA:261279 OMIM:619824 ORPHA:2896 OMIM:259700 OMIM:275350 ORPHA:2753 OMIM:613989 OMIM:617156 OMIM:616740 ORPHA:1388 OMIM:618213 OMIM:615582 ORPHA:505216 OMIM:617698 OMIM:618251 OMIM:607748 ORPHA:254875 OMIM:618805 OMIM:618050 ORPHA:99106 OMIM:617964 OMIM:618250 OMIM:614727 OMIM:608091 OMIM:614052 OMIM:226200 OMIM:239000 OMIM:619556 OMIM:619510 OMIM:615512 OMIM:615387 OMIM:618201 ORPHA:93284 ORPHA:476126 OMIM:617873 OMIM:616974 OMIM:616539 ORPHA:90674 OMIM:619534 ORPHA:1231 OMIM:620040 OMIM:619959 OMIM:617132 OMIM:244450 ORPHA:2707 OMIM:243800 ORPHA:2315 OMIM:618076 OMIM:258900 OMIM:619377 OMIM:616801 OMIM:615824 ORPHA:500055 OMIM:277440 OMIM:263400 OMIM:613404 ORPHA:193 OMIM:208085 ORPHA:319199 OMIM:615285 OMIM:618606 OMIM:615851 ORPHA:513456 OMIM:618346 OMIM:604317 OMIM:618168 OMIM:619418 OMIM:613561 ORPHA:911 OMIM:269840 ORPHA:261552 ORPHA:261537 OMIM:306955 OMIM:619488 OMIM:619644 OMIM:617865
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.