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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001508HP:0001508Failure to thrive0AARS CL E G H16442835ORPHA12120601065
HP:0001508HP:0001508Failure to thrive0AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM12120601065
HP:0001508HP:0001508Failure to thrive0AARS2 CL E G H57505614096Combined oxidative phosphorylation deficiency 8614096C3279793OMIM13126821022612035
HP:0001508HP:0001508Failure to thrive0ABCA12 CL E G H2615479394ORPHA113629414637607800
HP:0001508HP:0001508Failure to thrive0ABCA3 CL E G H21610921Surfactant metabolism dysfunction, pulmonary, 3610921C1970456OMIM128932033601615
HP:0001508HP:0001508Failure to thrive0ABCB11 CL E G H8647601847Progressive familial intrahepatic cholestasis 2601847C3489789OMIM133146042603201
HP:0001508HP:0001508Failure to thrive0ABCC8 CL E G H683399886ORPHA166160259600509
HP:0001508HP:0001508Failure to thrive0ABCC8 CL E G H683399885ORPHA166160259600509
HP:0001508HP:0001508Failure to thrive0ABL1 CL E G H25617602CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME617602C4539857OMIM1512776189980
HP:0001508HP:0001508Failure to thrive0ACAD9 CL E G H2897699901ORPHA16121721497611103
HP:0001508HP:0001508Failure to thrive0ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM18521690606885
HP:0001508HP:0001508Failure to thrive0ACD CL E G H650573322ORPHA1913525070609377
HP:0001508HP:0001508Failure to thrive0ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM119185118100850
HP:0001508HP:0001508Failure to thrive0ACOX1 CL E G H512971ORPHA126257119609751
HP:0001508HP:0001508Failure to thrive0ACSF3 CL E G H197322614265Combined malonic and methylmalonic aciduria614265C3280314OMIM12227827288614245
HP:0001508HP:0001508Failure to thrive0ACTA1 CL E G H582020ORPHA1217272129102610
HP:0001508HP:0001508Failure to thrive0ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1217272129102610
HP:0001508HP:0001508Failure to thrive0ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM165224132102630
HP:0001508HP:0001508Failure to thrive0ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA165224132102630
HP:0001508HP:0001508Failure to thrive0ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA148261144102560
HP:0001508HP:0001508Failure to thrive0ADA CL E G H10039041ORPHA196215186608958
HP:0001508HP:0001508Failure to thrive0ADA CL E G H100277ORPHA196215186608958
HP:0001508HP:0001508Failure to thrive0ADA CL E G H100102700Severe combined immunodeficiency due to ADA deficiency102700C1863236OMIM196215186608958
HP:0001508HP:0001508Failure to thrive0ADAR CL E G H103225154ORPHA1229316225146920
HP:0001508HP:0001508Failure to thrive0ADAT3 CL E G H113179615286Mental retardation, autosomal recessive 36615286C3809039OMIM126725151615302
HP:0001508HP:0001508Failure to thrive0ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM11564257102750
HP:0001508HP:0001508Failure to thrive0AGPS CL E G H8540600121Rhizomelic chondrodysplasia punctata type 3600121C1838612OMIM19232327603051
HP:0001508HP:0001508Failure to thrive0AGXT CL E G H18993598ORPHA1211428341604285
HP:0001508HP:0001508Failure to thrive0AHCY CL E G H19188618ORPHA11594343180960
HP:0001508HP:0001508Failure to thrive0AHCY CL E G H191613752Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency613752C3151058OMIM11594343180960
HP:0001508HP:0001508Failure to thrive0AHDC1 CL E G H27245615829Xia-Gibbs syndrome615829C4014419OMIM13418425230615790
HP:0001508HP:0001508Failure to thrive0AIMP1 CL E G H9255260600Leukodystrophy, hypomyelinating 3260600C1850053OMIM153410648603605
HP:0001508HP:0001508Failure to thrive0AK2 CL E G H20433355ORPHA11987362103020
HP:0001508HP:0001508Failure to thrive0AKR1D1 CL E G H6718235555Bile acid synthesis defect, congenital, 2235555C1856127OMIM115179388604741
HP:0001508HP:0001508Failure to thrive0ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM1332529722138250
HP:0001508HP:0001508Failure to thrive0ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM167210417612724
HP:0001508HP:0001508Failure to thrive0ALG12 CL E G H79087607143ALG12-congenital disorder of glycosylation607143C2931001OMIM11626319358607144
HP:0001508HP:0001508Failure to thrive0ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM11912323056608750
HP:0001508HP:0001508Failure to thrive0ALG8 CL E G H79053608104Congenital disorder of glycosylation type 1H608104C2931002OMIM1179623161608103
HP:0001508HP:0001508Failure to thrive0ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM1416015672606941
HP:0001508HP:0001508Failure to thrive0ALOX12B CL E G H24279394ORPHA164156430603741
HP:0001508HP:0001508Failure to thrive0ALOXE3 CL E G H5934479394ORPHA12213813743607206
HP:0001508HP:0001508Failure to thrive0ALPL CL E G H249241500Infantile hypophosphatasia241500C0268412OMIM1295328438171760
HP:0001508HP:0001508Failure to thrive0AMACR CL E G H23600214950Bile acid synthesis defect, congenital, 4214950C1858328OMIM114147451604489
HP:0001508HP:0001508Failure to thrive0AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM14121926837300647
HP:0001508HP:0001508Failure to thrive0ANTXR2 CL E G H1184292176Epimetaphyseal skeletal dysplasiaORPHA14820421732608041
HP:0001508HP:0001508Failure to thrive0AP3B2 CL E G H8120442835ORPHA11290567602166
HP:0001508HP:0001508Failure to thrive0APOPT1 CL E G H84334436271ORPHA19320492616003
HP:0001508HP:0001508Failure to thrive0APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM19320492616003
HP:0001508HP:0001508Failure to thrive0AQP2 CL E G H359223ORPHA166176634107777
HP:0001508HP:0001508Failure to thrive0AQP2 CL E G H359125800Nephrogenic diabetes insipidus, autosomal125800C1563706OMIM166176634107777
HP:0001508HP:0001508Failure to thrive0ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM1351649600820
HP:0001508HP:0001508Failure to thrive0ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA1710329216610911
HP:0001508HP:0001508Failure to thrive0ARID1B CL E G H57492251056ORPHA118857518040614556
HP:0001508HP:0001508Failure to thrive0ARMC5 CL E G H79798189427ORPHA1557725781615549
HP:0001508HP:0001508Failure to thrive0ARV1 CL E G H64801442835ORPHA135429561611647
HP:0001508HP:0001508Failure to thrive0ASAH1 CL E G H427333ORPHA171306735613468
HP:0001508HP:0001508Failure to thrive0ASAH1 CL E G H427228000Farber disease228000C0268255OMIM171306735613468
HP:0001508HP:0001508Failure to thrive0ASCL1 CL E G H42999803Haddad syndromeC1859587ORPHA1630738100790
HP:0001508HP:0001508Failure to thrive0ASL CL E G H435207900Argininosuccinate lyase deficiency207900C0268547OMIM1169264746608310
HP:0001508HP:0001508Failure to thrive0ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM12798753108370
HP:0001508HP:0001508Failure to thrive0ASS1 CL E G H445215700Citrullinemia type I215700C0175683OMIM1157323758603470
HP:0001508HP:0001508Failure to thrive0ASXL1 CL E G H17102397297ORPHA14119918318612990
HP:0001508HP:0001508Failure to thrive0ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM14119918318612990
HP:0001508HP:0001508Failure to thrive0ASXL3 CL E G H80816615485Bainbridge-Ropers syndrome615485C3809650OMIM15017429357615115
HP:0001508HP:0001508Failure to thrive0ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1390823164360
HP:0001508HP:0001508Failure to thrive0ATP6V0A2 CL E G H23545357074ORPHA15630918481611716
HP:0001508HP:0001508Failure to thrive0ATP6V0A2 CL E G H235452834ORPHA15630918481611716
HP:0001508HP:0001508Failure to thrive0ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM15630918481611716
HP:0001508HP:0001508Failure to thrive0ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM15630918481611716
HP:0001508HP:0001508Failure to thrive0ATP6V0A4 CL E G H50617602722Renal tubular acidosis, distal, autosomal recessive602722C1864498OMIM193173866605239
HP:0001508HP:0001508Failure to thrive0ATP6V1A CL E G H523442835ORPHA1947851607027
HP:0001508HP:0001508Failure to thrive0ATP6V1A CL E G H523357074ORPHA1947851607027
HP:0001508HP:0001508Failure to thrive0ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM1947851607027
HP:0001508HP:0001508Failure to thrive0ATP6V1E1 CL E G H529357074ORPHA1278857108746
HP:0001508HP:0001508Failure to thrive0ATP7B CL E G H540905ORPHA1938958870606882
HP:0001508HP:0001508Failure to thrive0ATP8B1 CL E G H5205211600Progressive intrahepatic cholestasis211600C0268312OMIM11403613706602397
HP:0001508HP:0001508Failure to thrive0ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM1218718802608918
HP:0001508HP:0001508Failure to thrive0ATXN7 CL E G H631494147ORPHA163110560607640
HP:0001508HP:0001508Failure to thrive0AUH CL E G H54967046ORPHA112128890600529
HP:0001508HP:0001508Failure to thrive0AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM112128890600529
HP:0001508HP:0001508Failure to thrive0AVPR2 CL E G H554223ORPHA1286356897300538
HP:0001508HP:0001508Failure to thrive0AVPR2 CL E G H554304800Nephrogenic diabetes insipidus, X-linked304800C1563705OMIM1286356897300538
HP:0001508HP:0001508Failure to thrive0B4GALT7 CL E G H11285130070Ehlers-Danlos syndrome progeroid type130070C1869122OMIM19138930604327
HP:0001508HP:0001508Failure to thrive0BAAT CL E G H570607748Hypercholanemia, familial607748C1843139OMIM17164932602938
HP:0001508HP:0001508Failure to thrive0BANF1 CL E G H8815614008Nestor-Guillermo progeria syndrome614008C3151446OMIM113617397603811
HP:0001508HP:0001508Failure to thrive0BCAP31 CL E G H10134369939ORPHA1924716695300398
HP:0001508HP:0001508Failure to thrive0BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM1924716695300398
HP:0001508HP:0001508Failure to thrive0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM1371741020603647
HP:0001508HP:0001508Failure to thrive0BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM1371741020603647
HP:0001508HP:0001508Failure to thrive0BLNK CL E G H2976033110ORPHA139114211604515
HP:0001508HP:0001508Failure to thrive0BMPR1A CL E G H657174900Juvenile polyposis syndrome174900C0345893OMIM114112071076601299
HP:0001508HP:0001508Failure to thrive0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM1684901097164757
HP:0001508HP:0001508Failure to thrive0BRCA1 CL E G H672617883FANCONI ANEMIA, COMPLEMENTATION GROUP S617883CN850168OMIM12824114981100113705
HP:0001508HP:0001508Failure to thrive0BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM12411416512606412
HP:0001508HP:0001508Failure to thrive0BTK CL E G H69547ORPHA19104211133300300
HP:0001508HP:0001508Failure to thrive0C12orf65 CL E G H91574613559Combined oxidative phosphorylation deficiency 7613559C3150801OMIM11111426784613541
HP:0001508HP:0001508Failure to thrive0CA12 CL E G H771143860Hyperchlorhidrosis, isolated143860C1840437OMIM14301371603263
HP:0001508HP:0001508Failure to thrive0CA2 CL E G H7602785ORPHA131761373611492
HP:0001508HP:0001508Failure to thrive0CACNA1A CL E G H773442835ORPHA125113931388601011
HP:0001508HP:0001508Failure to thrive0CAMKMT CL E G H79823163693ORPHA13226276609559
HP:0001508HP:0001508Failure to thrive0CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM1436025695612800
HP:0001508HP:0001508Failure to thrive0CASP8 CL E G H841607271Caspase-8 deficiency607271C1846545OMIM1121391509601763
HP:0001508HP:0001508Failure to thrive0CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM14109551514601199
HP:0001508HP:0001508Failure to thrive0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM115949688603198
HP:0001508HP:0001508Failure to thrive0CD3D CL E G H915615617Immunodeficiency 19615617C3810147OMIM15811673186790
HP:0001508HP:0001508Failure to thrive0CD79A CL E G H97333110ORPHA18531698112205
HP:0001508HP:0001508Failure to thrive0CD79A CL E G H973613501Agammaglobulinemia 3, autosomal recessive613501C3150751OMIM18531698112205
HP:0001508HP:0001508Failure to thrive0CD79B CL E G H97433110ORPHA13511699147245
HP:0001508HP:0001508Failure to thrive0CD96 CL E G H10225211750C syndrome211750C0796095OMIM134716892606037
HP:0001508HP:0001508Failure to thrive0CDC45 CL E G H83182554ORPHA1193981739603465
HP:0001508HP:0001508Failure to thrive0CDC6 CL E G H9902554ORPHA14581744602627
HP:0001508HP:0001508Failure to thrive0CDC6 CL E G H990613805Meier-Gorlin syndrome 5613805C3151126OMIM14581744602627
HP:0001508HP:0001508Failure to thrive0CDH23 CL E G H6407296253ORPHA1361143713733605516
HP:0001508HP:0001508Failure to thrive0CDON CL E G H5093795496ORPHA11339117104608707
HP:0001508HP:0001508Failure to thrive0CDT1 CL E G H816202554ORPHA11215824576605525
HP:0001508HP:0001508Failure to thrive0CDT1 CL E G H81620613804Meier-Gorlin syndrome 4613804C3151120OMIM11215824576605525
HP:0001508HP:0001508Failure to thrive0CERS3 CL E G H20421979394ORPHA1912023752615276
HP:0001508HP:0001508Failure to thrive0CFTR CL E G H1080219700Cystic fibrosis219700C0010674OMIM1182822711884602421
HP:0001508HP:0001508Failure to thrive0CHD7 CL E G H5563639041ORPHA1884126620626608892
HP:0001508HP:0001508Failure to thrive0CIITA CL E G H4261209920Bare lymphocyte syndrome 2209920C2931418OMIM1204357067600005
HP:0001508HP:0001508Failure to thrive0CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM1151131985605629
HP:0001508HP:0001508Failure to thrive0CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM161052026602024
HP:0001508HP:0001508Failure to thrive0CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM11521662027602023
HP:0001508HP:0001508Failure to thrive0CLDN16 CL E G H10686248250Primary hypomagnesemia248250C0268448OMIM1651882037603959
HP:0001508HP:0001508Failure to thrive0CLMP CL E G H79827615237Intestinal pseudo-obstruction615237C0021847OMIM1136624039611693
HP:0001508HP:0001508Failure to thrive0CLTC CL E G H1213442835ORPHA114622092118955
HP:0001508HP:0001508Failure to thrive0CNKSR2 CL E G H22866442835ORPHA1621419701300724
HP:0001508HP:0001508Failure to thrive0COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM171925716615623
HP:0001508HP:0001508Failure to thrive0COG6 CL E G H57511614576Congenital disorder of glycosylation type 2L614576C3553230OMIM11018918621606977
HP:0001508HP:0001508Failure to thrive0COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM1515918622606978
HP:0001508HP:0001508Failure to thrive0COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM113710072211120220
HP:0001508HP:0001508Failure to thrive0COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM119111482212120240
HP:0001508HP:0001508Failure to thrive0COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM114316342213120250
HP:0001508HP:0001508Failure to thrive0COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1132082260602125
HP:0001508HP:0001508Failure to thrive0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM1132082260602125
HP:0001508HP:0001508Failure to thrive0COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111428216614478
HP:0001508HP:0001508Failure to thrive0COX15 CL E G H1355255241ORPHA151882263603646
HP:0001508HP:0001508Failure to thrive0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM151882263603646
HP:0001508HP:0001508Failure to thrive0COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1112726970614698
HP:0001508HP:0001508Failure to thrive0COX4I2 CL E G H84701612714Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis612714C2675184OMIM113316232607976
HP:0001508HP:0001508Failure to thrive0COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13342280124089
HP:0001508HP:0001508Failure to thrive0COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM11122294123870
HP:0001508HP:0001508Failure to thrive0CPLANE1 CL E G H652502754ORPHA111859425801614571
HP:0001508HP:0001508Failure to thrive0CPLANE1 CL E G H65250277170Orofaciodigital syndrome 6277170C2745997OMIM111859425801614571
HP:0001508HP:0001508Failure to thrive0CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM131432309605032
HP:0001508HP:0001508Failure to thrive0CPS1 CL E G H1373237300Congenital hyperammonemia, type I237300C0751753OMIM12764452323608307
HP:0001508HP:0001508Failure to thrive0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0001508HP:0001508Failure to thrive0CSPP1 CL E G H79848397715ORPHA12725726193611654
HP:0001508HP:0001508Failure to thrive0CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM111642494602618
HP:0001508HP:0001508Failure to thrive0CTNS CL E G H1497411629ORPHA11604182518606272
HP:0001508HP:0001508Failure to thrive0CYFIP2 CL E G H26999442835ORPHA134213760606323
HP:0001508HP:0001508Failure to thrive0CYP11A1 CL E G H1583289548ORPHA130922590118485
HP:0001508HP:0001508Failure to thrive0CYP11A1 CL E G H1583168558ORPHA130922590118485
HP:0001508HP:0001508Failure to thrive0CYP11B2 CL E G H1585203400Corticosterone methyloxidase type 1 deficiency203400CN074214OMIM1552212592124080
HP:0001508HP:0001508Failure to thrive0CYP11B2 CL E G H1585610600Corticosterone methyloxidase type 2 deficiency610600C3463917OMIM1552212592124080
HP:0001508HP:0001508Failure to thrive0CYP24A1 CL E G H1591143880Idiopathic hypercalcemia of infancy143880C0268080OMIM1441302602126065
HP:0001508HP:0001508Failure to thrive0CYP27B1 CL E G H1594264700Vitamin D-dependent rickets, type 1264700C0268689OMIM182932606609506
HP:0001508HP:0001508Failure to thrive0CYP2R1 CL E G H120227600081Vitamin d hydroxylation-deficient rickets, type 1b600081C1838657OMIM164620580608713
HP:0001508HP:0001508Failure to thrive0CYP7B1 CL E G H9420613812Bile acid synthesis defect, congenital, 3613812C3151147OMIM1631992652603711
HP:0001508HP:0001508Failure to thrive0DCLRE1C CL E G H6442139041ORPHA19131817642605988
HP:0001508HP:0001508Failure to thrive0DCLRE1C CL E G H64421603554Histiocytic medullary reticulosis603554C1801959OMIM19131817642605988
HP:0001508HP:0001508Failure to thrive0DCLRE1C CL E G H64421602450Severe combined immunodeficiency with sensitivity to ionizing radiation602450C1865370OMIM19131817642605988
HP:0001508HP:0001508Failure to thrive0DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA117672718600811
HP:0001508HP:0001508Failure to thrive0DDOST CL E G H1650300536ORPHA121062728602202
HP:0001508HP:0001508Failure to thrive0DDOST CL E G H1650614507Congenital disorder of glycosylation type Ir614507C3281084OMIM121062728602202
HP:0001508HP:0001508Failure to thrive0DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM1641222858601465
HP:0001508HP:0001508Failure to thrive0DHCR24 CL E G H171835107ORPHA1101372859606418
HP:0001508HP:0001508Failure to thrive0DHCR24 CL E G H1718602398Desmosterolosis602398C1865596OMIM1101372859606418
HP:0001508HP:0001508Failure to thrive0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM12183762860602858
HP:0001508HP:0001508Failure to thrive0DHDDS CL E G H79947442835ORPHA1812220603608172
HP:0001508HP:0001508Failure to thrive0DHDDS CL E G H79947613861Retinitis pigmentosa 59613861C3151227OMIM1812220603608172
HP:0001508HP:0001508Failure to thrive0DKC1 CL E G H17363322ORPHA1753222890300126
HP:0001508HP:0001508Failure to thrive0DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA119492910605185
HP:0001508HP:0001508Failure to thrive0DNAJC21 CL E G H134218811Balo diseaseORPHA1116027030617048
HP:0001508HP:0001508Failure to thrive0DNAJC21 CL E G H134218617052Bone marrow failure syndrome 3617052C4310744OMIM1116027030617048
HP:0001508HP:0001508Failure to thrive0DNAJC21 CL E G H134218260400Shwachman syndrome260400C0272170OMIM1116027030617048
HP:0001508HP:0001508Failure to thrive0DNM1 CL E G H1759442835ORPHA1313242972602377
HP:0001508HP:0001508Failure to thrive0DNM1L CL E G H10059614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1614388C3280660OMIM1201972973603850
HP:0001508HP:0001508Failure to thrive0DNMT3B CL E G H1789242860Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency242860C0398788OMIM1572672979602900
HP:0001508HP:0001508Failure to thrive0DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA12221919189614194
HP:0001508HP:0001508Failure to thrive0DOLK CL E G H22845610768Congenital disorder of glycosylation type 1M610768C1835849OMIM11121523406610746
HP:0001508HP:0001508Failure to thrive0DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM191203005603503
HP:0001508HP:0001508Failure to thrive0DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM11242853012612779
HP:0001508HP:0001508Failure to thrive0DSP CL E G H1832607655Skin fragility woolly hair syndrome607655C1843292OMIM130921793052125647
HP:0001508HP:0001508Failure to thrive0DYNC2LI1 CL E G H51626289ORPHA11417324595617083
HP:0001508HP:0001508Failure to thrive0EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM13017929419612799
HP:0001508HP:0001508Failure to thrive0EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM1912373133300205
HP:0001508HP:0001508Failure to thrive0ECHS1 CL E G H1892255241ORPHA1331843151602292
HP:0001508HP:0001508Failure to thrive0EEF1A2 CL E G H1917442835ORPHA1122603192602959
HP:0001508HP:0001508Failure to thrive0EFL1 CL E G H79631811Balo diseaseORPHA135725789617538
HP:0001508HP:0001508Failure to thrive0EGFR CL E G H1956616069Inflammatory skin and bowel disease, neonatal, 2616069C4015130OMIM1285833236131550
HP:0001508HP:0001508Failure to thrive0ELAC2 CL E G H60528615440Combined oxidative phosphorylation deficiency 17615440C3809526OMIM12123814198605367
HP:0001508HP:0001508Failure to thrive0ELMO2 CL E G H639163019Intracranial aneurysms multiple congenital anomalyORPHA152017233606421
HP:0001508HP:0001508Failure to thrive0EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA195128526614789
HP:0001508HP:0001508Failure to thrive0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0001508HP:0001508Failure to thrive0EPCAM CL E G H4072613217Diarrhea 5, with tufting enteropathy, congenital613217C2750737OMIM18129311529185535
HP:0001508HP:0001508Failure to thrive0EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM16849529331615068
HP:0001508HP:0001508Failure to thrive0EPHX1 CL E G H2052607748Hypercholanemia, familial607748C1843139OMIM110493401132810
HP:0001508HP:0001508Failure to thrive0ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA11082273434126340
HP:0001508HP:0001508Failure to thrive0ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA1201223435133510
HP:0001508HP:0001508Failure to thrive0ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA1723483436133520
HP:0001508HP:0001508Failure to thrive0ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA1592633437133530
HP:0001508HP:0001508Failure to thrive0ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM11404993438609413
HP:0001508HP:0001508Failure to thrive0ERMARD CL E G H5578075857ORPHA1214521056615532
HP:0001508HP:0001508Failure to thrive0ETHE1 CL E G H2347451188ORPHA13712723287608451
HP:0001508HP:0001508Failure to thrive0ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM13712723287608451
HP:0001508HP:0001508Failure to thrive0EVC CL E G H2121289ORPHA1846523497604831
HP:0001508HP:0001508Failure to thrive0EVC2 CL E G H132884289ORPHA17656719747607261
HP:0001508HP:0001508Failure to thrive0EXOSC8 CL E G H11340616081Pontocerebellar hypoplasia, type 1c616081C4015160OMIM136017035606019
HP:0001508HP:0001508Failure to thrive0EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM12229137606180
HP:0001508HP:0001508Failure to thrive0EXT1 CL E G H2131321ORPHA15324093512608177
HP:0001508HP:0001508Failure to thrive0EXT2 CL E G H2132321ORPHA12582753513608210
HP:0001508HP:0001508Failure to thrive0FAH CL E G H2184276700Tyrosinemia type I276700C0268490OMIM11022633579613871
HP:0001508HP:0001508Failure to thrive0FAM111A CL E G H63901602361Gracile bone dysplasia602361C1865639OMIM194124725615292
HP:0001508HP:0001508Failure to thrive0FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1323529160612322
HP:0001508HP:0001508Failure to thrive0FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM14843413601605654
HP:0001508HP:0001508Failure to thrive0FGD1 CL E G H2245305400Aarskog syndrome305400C0175701OMIM1512763663300546
HP:0001508HP:0001508Failure to thrive0FGF12 CL E G H2257442835ORPHA110743668601513
HP:0001508HP:0001508Failure to thrive0FGFR1 CL E G H2260166250Osteoglophonic dysplasia166250C0432283OMIM12653883688136350
HP:0001508HP:0001508Failure to thrive0FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM171993693605830
HP:0001508HP:0001508Failure to thrive0FH CL E G H2271606812Fumarase deficiency606812C0342770OMIM12168903700136850
HP:0001508HP:0001508Failure to thrive0FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1215103627310607273
HP:0001508HP:0001508Failure to thrive0FLNA CL E G H231690652ORPHA127114723754300017
HP:0001508HP:0001508Failure to thrive0FLNA CL E G H2316309350Melnick-Needles syndrome309350C0025237OMIM127114723754300017
HP:0001508HP:0001508Failure to thrive0FMR1 CL E G H2332261483ORPHA1812813775309550
HP:0001508HP:0001508Failure to thrive0FOXRED1 CL E G H55572255241ORPHA1818326927613622
HP:0001508HP:0001508Failure to thrive0FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM11614824678610966
HP:0001508HP:0001508Failure to thrive0FUCA1 CL E G H2517349Neuroaxonal dystrophy renal tubular acidosisORPHA1341094006612280
HP:0001508HP:0001508Failure to thrive0FUT8 CL E G H2530618005CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION618005CN248517OMIM15284019602589
HP:0001508HP:0001508Failure to thrive0G6PC3 CL E G H92579612541Severe congenital neutropenia 4, autosomal recessive612541C2675526OMIM14011924861611045
HP:0001508HP:0001508Failure to thrive0GABRB2 CL E G H2561442835ORPHA1162124082600232
HP:0001508HP:0001508Failure to thrive0GABRD CL E G H25631606ORPHA172784084137163
HP:0001508HP:0001508Failure to thrive0GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM12514624115606890
HP:0001508HP:0001508Failure to thrive0GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM1271124116606953
HP:0001508HP:0001508Failure to thrive0GALT CL E G H259279239ORPHA13375554135606999
HP:0001508HP:0001508Failure to thrive0GALT CL E G H2592230400Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase230400C0268151OMIM13375554135606999
HP:0001508HP:0001508Failure to thrive0GATA6 CL E G H26272255Familial non-immune hyperthyroidismORPHA1851724174601656
HP:0001508HP:0001508Failure to thrive0GATA6 CL E G H2627600001Pancreatic agenesis and congenital heart disease600001C1838780OMIM1851724174601656
HP:0001508HP:0001508Failure to thrive0GATM CL E G H2628612718Arginine:glycine amidinotransferase deficiency612718C2675179OMIM1222124175602360
HP:0001508HP:0001508Failure to thrive0GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14942064177606463
HP:0001508HP:0001508Failure to thrive0GBE1 CL E G H2632232500Glycogen storage disease, type IV232500C0017923OMIM1742314180607839
HP:0001508HP:0001508Failure to thrive0GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM12443374189608801
HP:0001508HP:0001508Failure to thrive0GCK CL E G H264599885ORPHA18484704195138079
HP:0001508HP:0001508Failure to thrive0GJA1 CL E G H2697257850Oculodentodigital dysplasia, autosomal recessive257850C2749477OMIM11091414274121014
HP:0001508HP:0001508Failure to thrive0GLI1 CL E G H2735289ORPHA111334317165220
HP:0001508HP:0001508Failure to thrive0GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM153924247610516
HP:0001508HP:0001508Failure to thrive0GMNN CL E G H510532554ORPHA132117493602842
HP:0001508HP:0001508Failure to thrive0GNAS CL E G H2778189427ORPHA12792164392139320
HP:0001508HP:0001508Failure to thrive0GNB1 CL E G H2782488613ORPHA1241844396139380
HP:0001508HP:0001508Failure to thrive0GNB1 CL E G H2782616973Mental retardation, autosomal dominant 42616973C4310774OMIM1241844396139380
HP:0001508HP:0001508Failure to thrive0GNPAT CL E G H8443222765Rhizomelic chondrodysplasia punctata type 2222765C1857242OMIM1161444416602744
HP:0001508HP:0001508Failure to thrive0GNPTAB CL E G H79158576ORPHA118846229670607840
HP:0001508HP:0001508Failure to thrive0GNPTAB CL E G H79158252500I cell disease252500C2673377OMIM118846229670607840
HP:0001508HP:0001508Failure to thrive0GPIHBP1 CL E G H338328615947Hyperlipoproteinemia, type ID615947C4014767OMIM1347524945612757
HP:0001508HP:0001508Failure to thrive0GPR161 CL E G H2343295496ORPHA113223694612250
HP:0001508HP:0001508Failure to thrive0GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM1105818062138210
HP:0001508HP:0001508Failure to thrive0GRIN2D CL E G H2906442835ORPHA12774588602717
HP:0001508HP:0001508Failure to thrive0GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM12774588602717
HP:0001508HP:0001508Failure to thrive0HACD1 CL E G H92002020ORPHA11339639610467
HP:0001508HP:0001508Failure to thrive0HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM1713024801600890
HP:0001508HP:0001508Failure to thrive0HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM1671484803143450
HP:0001508HP:0001508Failure to thrive0HBA1 CL E G H303998791ORPHA12173464823141800
HP:0001508HP:0001508Failure to thrive0HBA2 CL E G H304098791ORPHA12962744824141850
HP:0001508HP:0001508Failure to thrive0HCFC1 CL E G H3054309541Mental retardation 3, X-linked309541C0796208OMIM1184864839300019
HP:0001508HP:0001508Failure to thrive0HCN1 CL E G H348980442835ORPHA1402854845602780
HP:0001508HP:0001508Failure to thrive0HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA15622713315300269
HP:0001508HP:0001508Failure to thrive0HESX1 CL E G H882095496ORPHA127464877601802
HP:0001508HP:0001508Failure to thrive0HIKESHI CL E G H51501616881Leukodystrophy, hypomyelinating, 13616881C4225170OMIM123326938614908
HP:0001508HP:0001508Failure to thrive0HMGA2 CL E G H809194063ORPHA121235009600698
HP:0001508HP:0001508Failure to thrive0HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM141745042300610
HP:0001508HP:0001508Failure to thrive0HPD CL E G H32422118ORPHA191005147609695
HP:0001508HP:0001508Failure to thrive0HPD CL E G H32421403504-Alpha-hydroxyphenylpyruvate hydroxylase deficiency140350C2931042OMIM191005147609695
HP:0001508HP:0001508Failure to thrive0HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM1342955173190020
HP:0001508HP:0001508Failure to thrive0HSD11B2 CL E G H3291218030Apparent mineralocorticoid excess218030C2936861OMIM149625209614232
HP:0001508HP:0001508Failure to thrive0HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM11013055213601860
HP:0001508HP:0001508Failure to thrive0HSD3B7 CL E G H8027079301ORPHA1269618324607764
HP:0001508HP:0001508Failure to thrive0HSD3B7 CL E G H80270607765Bile acid synthesis defect, congenital, 1607765C1843116OMIM1269618324607764
HP:0001508HP:0001508Failure to thrive0HYMAI CL E G H5706199886ORPHA1155326606546
HP:0001508HP:0001508Failure to thrive0IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM1155330600709
HP:0001508HP:0001508Failure to thrive0IGF1 CL E G H347973272ORPHA1131675464147440
HP:0001508HP:0001508Failure to thrive0IGHM CL E G H350733110ORPHA117815541147020
HP:0001508HP:0001508Failure to thrive0IGHM CL E G H3507601495Agammaglobulinemia, non-Bruton type601495C1832241OMIM117815541147020
HP:0001508HP:0001508Failure to thrive0IGHMBP2 CL E G H3508604320Spinal muscular atrophy, distal, autosomal recessive, 1604320C1858517OMIM11436835542600502
HP:0001508HP:0001508Failure to thrive0IGLL1 CL E G H354333110ORPHA131865870146770
HP:0001508HP:0001508Failure to thrive0IKBKB CL E G H3551615592Immunodeficiency 15615592C3810043OMIM171515960603258
HP:0001508HP:0001508Failure to thrive0IL21 CL E G H59067615767Common variable immunodeficiency 11615767C4014258OMIM13336005605384
HP:0001508HP:0001508Failure to thrive0IL21R CL E G H50615615207IL21R immunodeficiency615207C3554687OMIM1101526006605383
HP:0001508HP:0001508Failure to thrive0IL2RG CL E G H356139041ORPHA12502716010308380
HP:0001508HP:0001508Failure to thrive0IL2RG CL E G H3561300400X-linked severe combined immunodeficiency300400C1279481OMIM12502716010308380
HP:0001508HP:0001508Failure to thrive0IL7R CL E G H357539041ORPHA1592406024146661
HP:0001508HP:0001508Failure to thrive0INS CL E G H363099885ORPHA1831156081176730
HP:0001508HP:0001508Failure to thrive0ITGA7 CL E G H36792020ORPHA1103706143600536
HP:0001508HP:0001508Failure to thrive0ITGB4 CL E G H3691158684ORPHA1992926158147557
HP:0001508HP:0001508Failure to thrive0JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM16206456188601920
HP:0001508HP:0001508Failure to thrive0JAK3 CL E G H3718600802Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative600802C1833275OMIM1833416193600173
HP:0001508HP:0001508Failure to thrive0KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM17284024565612452
HP:0001508HP:0001508Failure to thrive0KAT6B CL E G H235223047ORPHA17622817582605880
HP:0001508HP:0001508Failure to thrive0KCNA2 CL E G H3737442835ORPHA1211296220176262
HP:0001508HP:0001508Failure to thrive0KCNAB2 CL E G H85141606ORPHA15856229601142
HP:0001508HP:0001508Failure to thrive0KCNB1 CL E G H3745442835ORPHA1302786231600397
HP:0001508HP:0001508Failure to thrive0KCNJ1 CL E G H3758241200Bartter syndrome, type 2, antenatal241200C1855849OMIM1701766255600359
HP:0001508HP:0001508Failure to thrive0KCNJ10 CL E G H3766199343ORPHA1332336256602208
HP:0001508HP:0001508Failure to thrive0KCNJ11 CL E G H376799886ORPHA11872276257600937
HP:0001508HP:0001508Failure to thrive0KCNJ11 CL E G H376799885ORPHA11872276257600937
HP:0001508HP:0001508Failure to thrive0KCNJ6 CL E G H3763435628ORPHA13846267600877
HP:0001508HP:0001508Failure to thrive0KCNJ6 CL E G H3763614098Keppen-Lubinsky syndrome614098C3279800OMIM13846267600877
HP:0001508HP:0001508Failure to thrive0KDM6A CL E G H74032322ORPHA18131112637300128
HP:0001508HP:0001508Failure to thrive0KIAA0586 CL E G H9786397715ORPHA13115519960610178
HP:0001508HP:0001508Failure to thrive0KIAA0753 CL E G H98512754ORPHA176529110617112
HP:0001508HP:0001508Failure to thrive0KIF7 CL E G H3746542754ORPHA14538630497611254
HP:0001508HP:0001508Failure to thrive0KIF7 CL E G H374654200990Acrocallosal syndrome, Schinzel type200990C0796147OMIM14538630497611254
HP:0001508HP:0001508Failure to thrive0KLHL7 CL E G H5597597297ORPHA11412715646611119
HP:0001508HP:0001508Failure to thrive0KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA11273797132159555
HP:0001508HP:0001508Failure to thrive0KMT2A CL E G H4297605130Wiedemann-Steiner syndrome605130C1854630OMIM11273797132159555
HP:0001508HP:0001508Failure to thrive0KMT2D CL E G H80852322ORPHA171213507133602113
HP:0001508HP:0001508Failure to thrive0KRAS CL E G H38453339ORPHA1452746407190070
HP:0001508HP:0001508Failure to thrive0LAMA3 CL E G H390979404ORPHA1554526483600805
HP:0001508HP:0001508Failure to thrive0LAMA3 CL E G H3909226700Junctional epidermolysis bullosa gravis of Herlitz226700C0079683OMIM1554526483600805
HP:0001508HP:0001508Failure to thrive0LAMB3 CL E G H391479404ORPHA11213776490150310
HP:0001508HP:0001508Failure to thrive0LAMB3 CL E G H3914226700Junctional epidermolysis bullosa gravis of Herlitz226700C0079683OMIM11213776490150310
HP:0001508HP:0001508Failure to thrive0LAMC2 CL E G H391879404ORPHA1413106493150292
HP:0001508HP:0001508Failure to thrive0LAMC2 CL E G H3918226700Junctional epidermolysis bullosa gravis of Herlitz226700C0079683OMIM1413106493150292
HP:0001508HP:0001508Failure to thrive0LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM176512151350
HP:0001508HP:0001508Failure to thrive0LCK CL E G H3932615758Immunodeficiency 22615758C4014233OMIM13626524153390
HP:0001508HP:0001508Failure to thrive0LEMD3 CL E G H2359294063ORPHA13413828887607844
HP:0001508HP:0001508Failure to thrive0LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM141756556604407
HP:0001508HP:0001508Failure to thrive0LETM1 CL E G H3954280Halal Setton Wang syndromeORPHA141756556604407
HP:0001508HP:0001508Failure to thrive0LHX4 CL E G H8988495496ORPHA12311621734602146
HP:0001508HP:0001508Failure to thrive0LIG4 CL E G H398139041ORPHA1403176601601837
HP:0001508HP:0001508Failure to thrive0LIPA CL E G H3988278000Lysosomal acid lipase deficiency278000C0043208OMIM1962466617613497
HP:0001508HP:0001508Failure to thrive0LIPT1 CL E G H51601255241ORPHA195429569610284
HP:0001508HP:0001508Failure to thrive0LMBRD1 CL E G H5578879284ORPHA1910423038612625
HP:0001508HP:0001508Failure to thrive0LMBRD1 CL E G H55788277380METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE277380C1848578OMIM1910423038612625
HP:0001508HP:0001508Failure to thrive0LMNA CL E G H400079474ORPHA157411526636150330
HP:0001508HP:0001508Failure to thrive0LMNA CL E G H4000740Aortic arch interruptionORPHA157411526636150330
HP:0001508HP:0001508Failure to thrive0LMNA CL E G H4000613205Congenital muscular dystrophy, LMNA-related613205C2750785OMIM157411526636150330
HP:0001508HP:0001508Failure to thrive0LPIN2 CL E G H966377297ORPHA11650914450605519
HP:0001508HP:0001508Failure to thrive0LRBA CL E G H987614700Common variable immunodeficiency 8, with autoimmunity614700C3553512OMIM1686311742606453
HP:0001508HP:0001508Failure to thrive0LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM12146715714607544
HP:0001508HP:0001508Failure to thrive0LRRC8A CL E G H5626233110ORPHA137419027608360
HP:0001508HP:0001508Failure to thrive0LYRM4 CL E G H57128615595Combined oxidative phosphorylation deficiency 19615595C3810055OMIM159021365613311
HP:0001508HP:0001508Failure to thrive0LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM194128072615831
HP:0001508HP:0001508Failure to thrive0MAP2K1 CL E G H5604615279Cardiofaciocutaneous syndrome 3615279C3809006OMIM1232136840176872
HP:0001508HP:0001508Failure to thrive0MAP3K20 CL E G H517762020ORPHA173617797609479
HP:0001508HP:0001508Failure to thrive0MAP3K7 CL E G H6885157800Forney Robinson Pascoe syndrome157800C2931461OMIM113646859602614
HP:0001508HP:0001508Failure to thrive0MARS CL E G H4141615486Interstitial lung and liver disease615486C4225400OMIM1176898156560
HP:0001508HP:0001508Failure to thrive0MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA12620715455300294
HP:0001508HP:0001508Failure to thrive0MC2R CL E G H4158202200ACTH resistance202200C4049650OMIM1522266930607397
HP:0001508HP:0001508Failure to thrive0MCCC1 CL E G H569222102003 Methylcrotonyl-CoA carboxylase 1 deficiency210200CN028786OMIM11082736936609010
HP:0001508HP:0001508Failure to thrive0MCCC2 CL E G H640872102103-methylcrotonyl CoA carboxylase 2 deficiency210210C1859499OMIM11172376937609014
HP:0001508HP:0001508Failure to thrive0MCEE CL E G H84693251120Methylmalonyl-CoA epimerase deficiency251120C1855100OMIM144916732608419
HP:0001508HP:0001508Failure to thrive0MCTP2 CL E G H557841596ORPHA1910125636616297
HP:0001508HP:0001508Failure to thrive0MDH2 CL E G H4191617339Epileptic encephalopathy, early infantile, 51617339C4479208OMIM19676971154100
HP:0001508HP:0001508Failure to thrive0MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM1105014426990300005
HP:0001508HP:0001508Failure to thrive0MED17 CL E G H9440613668Microcephaly, postnatal progressive, with seizures and brain atrophy613668C3150921OMIM14792375603810
HP:0001508HP:0001508Failure to thrive0MEGF10 CL E G H84466614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset614399C3280679OMIM11949529634612453
HP:0001508HP:0001508Failure to thrive0MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM151077045602616
HP:0001508HP:0001508Failure to thrive0MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM181247104602241
HP:0001508HP:0001508Failure to thrive0MMAA CL E G H166785251100Methylmalonic aciduria cblA type251100C1855109OMIM17626318871607481
HP:0001508HP:0001508Failure to thrive0MMAB CL E G H326625251110Methylmalonic aciduria cblB type251110C1855102OMIM14225619331607568
HP:0001508HP:0001508Failure to thrive0MMACHC CL E G H2597479282ORPHA19527424525609831
HP:0001508HP:0001508Failure to thrive0MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM19527424525609831
HP:0001508HP:0001508Failure to thrive0MMADHC CL E G H2724979283ORPHA11411425221611935
HP:0001508HP:0001508Failure to thrive0MMUT CL E G H459479312ORPHA14407526609058
HP:0001508HP:0001508Failure to thrive0MMUT CL E G H4594251000Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency251000C1855114OMIM14407526609058
HP:0001508HP:0001508Failure to thrive0MOGS CL E G H784179330ORPHA1817324862601336
HP:0001508HP:0001508Failure to thrive0MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM17857207604041
HP:0001508HP:0001508Failure to thrive0MPI CL E G H4351602579Congenital disorder of glycosylation type 1B602579C1865145OMIM1211747216154550
HP:0001508HP:0001508Failure to thrive0MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM1501247224137960
HP:0001508HP:0001508Failure to thrive0MRPL3 CL E G H11222614582Combined oxidative phosphorylation deficiency 9614582C3281234OMIM144410379607118
HP:0001508HP:0001508Failure to thrive0MSMO1 CL E G H6307616834Microcephaly, congenital cataract, and psoriasiform dermatitis616834C4225189OMIM144810545607545
HP:0001508HP:0001508Failure to thrive0MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0001508HP:0001508Failure to thrive0MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0001508HP:0001508Failure to thrive0MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0001508HP:0001508Failure to thrive0MTFMT CL E G H123263255241ORPHA1177629666611766
HP:0001508HP:0001508Failure to thrive0MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM12613819261614667
HP:0001508HP:0001508Failure to thrive0MTR CL E G H4548250940METHYLCOBALAMIN DEFICIENCY, cblG TYPE250940C1855128OMIM1444287468156570
HP:0001508HP:0001508Failure to thrive0MTRR CL E G H4552236270Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type236270C1856057OMIM1363287473602568
HP:0001508HP:0001508Failure to thrive0MVK CL E G H4598610377Mevalonic aciduria610377C1959626OMIM11832777530251170
HP:0001508HP:0001508Failure to thrive0MYH3 CL E G H46212053Ectodermal dysplasia neurosensory deafnessORPHA1453157573160720
HP:0001508HP:0001508Failure to thrive0MYH3 CL E G H4621193700Freeman-Sheldon syndrome193700C0265224OMIM1453157573160720
HP:0001508HP:0001508Failure to thrive0MYH7 CL E G H4625324604ORPHA1100224407577160760
HP:0001508HP:0001508Failure to thrive0MYH7 CL E G H4625255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1100224407577160760
HP:0001508HP:0001508Failure to thrive0MYL2 CL E G H46332020ORPHA1672827583160781
HP:0001508HP:0001508Failure to thrive0MYMK CL E G H389827254940Congenital nonprogressive myopathy with Moebius and Robin sequences254940C1850746OMIM175733778615345
HP:0001508HP:0001508Failure to thrive0NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM135520967610672
HP:0001508HP:0001508Failure to thrive0NADK2 CL E G H133686431361ORPHA137026404615787
HP:0001508HP:0001508Failure to thrive0NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM137026404615787
HP:0001508HP:0001508Failure to thrive0NAGS CL E G H162417237310Hyperammonemia, type III237310C0268543OMIM14911717996608300
HP:0001508HP:0001508Failure to thrive0NALCN CL E G H2592322053Ectodermal dysplasia neurosensory deafnessORPHA16524719082611549
HP:0001508HP:0001508Failure to thrive0NDUFA10 CL E G H4705255241ORPHA163027684603835
HP:0001508HP:0001508Failure to thrive0NDUFA12 CL E G H55967255241ORPHA143123987614530
HP:0001508HP:0001508Failure to thrive0NDUFA13 CL E G H51079255241ORPHA131617194609435
HP:0001508HP:0001508Failure to thrive0NDUFA2 CL E G H4695255241ORPHA14487685602137
HP:0001508HP:0001508Failure to thrive0NDUFA4 CL E G H4697255241ORPHA12557687603833
HP:0001508HP:0001508Failure to thrive0NDUFA9 CL E G H4704255241ORPHA131167693603834
HP:0001508HP:0001508Failure to thrive0NDUFAF2 CL E G H91942255241ORPHA188728086609653
HP:0001508HP:0001508Failure to thrive0NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM139221034611776
HP:0001508HP:0001508Failure to thrive0NDUFAF5 CL E G H79133255241ORPHA11212115899612360
HP:0001508HP:0001508Failure to thrive0NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM11212115899612360
HP:0001508HP:0001508Failure to thrive0NDUFAF6 CL E G H137682255241ORPHA11011328625612392
HP:0001508HP:0001508Failure to thrive0NDUFB11 CL E G H54539300952Linear skin defects with multiple congenital anomalies 3300952C4225421OMIM1616320372300403
HP:0001508HP:0001508Failure to thrive0NDUFB3 CL E G H4709618246MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25618246OMIM12477698603839
HP:0001508HP:0001508Failure to thrive0NDUFS1 CL E G H4719255241ORPHA1281927707157655
HP:0001508HP:0001508Failure to thrive0NDUFS2 CL E G H4720255241ORPHA1241167708602985
HP:0001508HP:0001508Failure to thrive0NDUFS3 CL E G H4722255241ORPHA13587710603846
HP:0001508HP:0001508Failure to thrive0NDUFS4 CL E G H4724255241ORPHA117697711602694
HP:0001508HP:0001508Failure to thrive0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM117697711602694
HP:0001508HP:0001508Failure to thrive0NDUFS7 CL E G H374291255241ORPHA18927714601825
HP:0001508HP:0001508Failure to thrive0NDUFS8 CL E G H4728255241ORPHA113667715602141
HP:0001508HP:0001508Failure to thrive0NDUFV1 CL E G H4723255241ORPHA1361447716161015
HP:0001508HP:0001508Failure to thrive0NDUFV2 CL E G H4729255241ORPHA181357717600532
HP:0001508HP:0001508Failure to thrive0NECAP1 CL E G H25977442835ORPHA118224539611623
HP:0001508HP:0001508Failure to thrive0NELFA CL E G H7469280Halal Setton Wang syndromeORPHA1416712768606026
HP:0001508HP:0001508Failure to thrive0NEUROG3 CL E G H50674610370Diarrhea 4, malabsorptive, congenital610370C1835888OMIM1102213806604882
HP:0001508HP:0001508Failure to thrive0NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM14146829433300524
HP:0001508HP:0001508Failure to thrive0NFE2L2 CL E G H4780617744IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA617744C4540293OMIM18567782600492
HP:0001508HP:0001508Failure to thrive0NFIX CL E G H4784561ORPHA11041547788164005
HP:0001508HP:0001508Failure to thrive0NFIX CL E G H4784602535Marshall-Smith syndrome602535C0265211OMIM11041547788164005
HP:0001508HP:0001508Failure to thrive0NFU1 CL E G H27247605711Multiple mitochondrial dysfunctions syndrome 1605711C3276432OMIM1158116287608100
HP:0001508HP:0001508Failure to thrive0NIPAL4 CL E G H34893879394ORPHA11812928018609383
HP:0001508HP:0001508Failure to thrive0NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA143780928862608667
HP:0001508HP:0001508Failure to thrive0NLRC4 CL E G H58484616050Autoinflammation with infantile enterocolitis616050C4015067OMIM1921416412606831
HP:0001508HP:0001508Failure to thrive0NLRP1 CL E G H22861617388Autoinflammation with arthritis and dyskeratosis617388C4479278OMIM11813414374606636
HP:0001508HP:0001508Failure to thrive0NME1 CL E G H4830256700Neuroblastoma256700C0027819OMIM11137849156490
HP:0001508HP:0001508Failure to thrive0NNT CL E G H23530614736Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency614736C3553587OMIM145527863607878
HP:0001508HP:0001508Failure to thrive0NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA112414777881190198
HP:0001508HP:0001508Failure to thrive0NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM1813947882600275
HP:0001508HP:0001508Failure to thrive0NR0B1 CL E G H190300200Congenital adrenal hypoplasia, X-linked300200C0342482OMIM12552707960300473
HP:0001508HP:0001508Failure to thrive0NR1H4 CL E G H9971617049Cholestasis, progressive familial intrahepatic, 5617049C4310747OMIM18647967603826
HP:0001508HP:0001508Failure to thrive0NR3C2 CL E G H4306177735Pseudohypoaldosteronism type 1 autosomal dominant177735C1449842OMIM1762057979600983
HP:0001508HP:0001508Failure to thrive0NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM11422012766602952
HP:0001508HP:0001508Failure to thrive0NSD2 CL E G H7468280Halal Setton Wang syndromeORPHA11422012766602952
HP:0001508HP:0001508Failure to thrive0NSMCE3 CL E G H56160617241Lung disease, immunodeficiency, and chromosome breakage syndrome617241C4310653OMIM121377677608243
HP:0001508HP:0001508Failure to thrive0NTRK2 CL E G H4915442835ORPHA113708032600456
HP:0001508HP:0001508Failure to thrive0NUP62 CL E G H23636225154ORPHA11418066605815
HP:0001508HP:0001508Failure to thrive0NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11418066605815
HP:0001508HP:0001508Failure to thrive0NUS1 CL E G H116150442835ORPHA1225721042610463
HP:0001508HP:0001508Failure to thrive0NUS1 CL E G H116150617082CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa617082C4310727OMIM1225721042610463
HP:0001508HP:0001508Failure to thrive0OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM120618104602876
HP:0001508HP:0001508Failure to thrive0OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA12643428108300535
HP:0001508HP:0001508Failure to thrive0OCRL CL E G H4952309000Lowe syndrome309000C0028860OMIM12643428108300535
HP:0001508HP:0001508Failure to thrive0OFD1 CL E G H84812754ORPHA11625102567300170
HP:0001508HP:0001508Failure to thrive0ORAI1 CL E G H84876612782Immune dysfunction with T-cell inactivation due to calcium entry defect 1612782C2748568OMIM11710125896610277
HP:0001508HP:0001508Failure to thrive0ORC1 CL E G H49982554ORPHA1121038487601902
HP:0001508HP:0001508Failure to thrive0ORC1 CL E G H4998224690Meier-Gorlin syndrome 1224690CN030358OMIM1121038487601902
HP:0001508HP:0001508Failure to thrive0ORC4 CL E G H50002554ORPHA16878490603056
HP:0001508HP:0001508Failure to thrive0ORC4 CL E G H5000613800Meier-Gorlin syndrome 2613800C3151097OMIM16878490603056
HP:0001508HP:0001508Failure to thrive0ORC6 CL E G H235942554ORPHA169017151607213
HP:0001508HP:0001508Failure to thrive0ORC6 CL E G H23594613803Meier-Gorlin syndrome 3613803C3151113OMIM169017151607213
HP:0001508HP:0001508Failure to thrive0OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM1174618028610107
HP:0001508HP:0001508Failure to thrive0OTC CL E G H5009311250Ornithine carbamoyltransferase deficiency311250C0268542OMIM15276418512300461
HP:0001508HP:0001508Failure to thrive0OTUD6B CL E G H51633505237ORPHA164724281612021
HP:0001508HP:0001508Failure to thrive0OTUD6B CL E G H51633617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies617452C4479520OMIM164724281612021
HP:0001508HP:0001508Failure to thrive0OTULIN CL E G H90268617099Autoinflammation, panniculitis, and dermatosis syndrome617099C4310614OMIM1328825118615712
HP:0001508HP:0001508Failure to thrive0PARN CL E G H50733322ORPHA1291668609604212
HP:0001508HP:0001508Failure to thrive0PARN CL E G H5073616353Dyskeratosis congenita, autosomal recessive 6616353C4225356OMIM1291668609604212
HP:0001508HP:0001508Failure to thrive0PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM11493878653232000
HP:0001508HP:0001508Failure to thrive0PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM11313018654232050
HP:0001508HP:0001508Failure to thrive0PDE6D CL E G H51472754ORPHA11398788602676
HP:0001508HP:0001508Failure to thrive0PDHA1 CL E G H5160255241ORPHA11934088806300502
HP:0001508HP:0001508Failure to thrive0PDX1 CL E G H365199885ORPHA133866107600733
HP:0001508HP:0001508Failure to thrive0PDX1 CL E G H3651260370Pancreatic agenesis, congenital260370C1850096OMIM133866107600733
HP:0001508HP:0001508Failure to thrive0PET100 CL E G H100131801255241ORPHA122840038614770
HP:0001508HP:0001508Failure to thrive0PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM122840038614770
HP:0001508HP:0001508Failure to thrive0PEX1 CL E G H5189772ORPHA11404898850602136
HP:0001508HP:0001508Failure to thrive0PEX1 CL E G H5189912ORPHA11404898850602136
HP:0001508HP:0001508Failure to thrive0PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM11404898850602136
HP:0001508HP:0001508Failure to thrive0PEX10 CL E G H5192912ORPHA1323478851602859
HP:0001508HP:0001508Failure to thrive0PEX10 CL E G H5192772ORPHA1323478851602859
HP:0001508HP:0001508Failure to thrive0PEX11B CL E G H8799772ORPHA182478853603867
HP:0001508HP:0001508Failure to thrive0PEX11B CL E G H8799912ORPHA182478853603867
HP:0001508HP:0001508Failure to thrive0PEX12 CL E G H5193912ORPHA1371818854601758
HP:0001508HP:0001508Failure to thrive0PEX12 CL E G H5193772ORPHA1371818854601758
HP:0001508HP:0001508Failure to thrive0PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM1371818854601758
HP:0001508HP:0001508Failure to thrive0PEX13 CL E G H5194912ORPHA1101968855601789
HP:0001508HP:0001508Failure to thrive0PEX13 CL E G H5194772ORPHA1101968855601789
HP:0001508HP:0001508Failure to thrive0PEX13 CL E G H5194614883Peroxisome biogenesis disorder 11A614883C3554000OMIM1101968855601789
HP:0001508HP:0001508Failure to thrive0PEX14 CL E G H5195772ORPHA151768856601791
HP:0001508HP:0001508Failure to thrive0PEX14 CL E G H5195912ORPHA151768856601791
HP:0001508HP:0001508Failure to thrive0PEX16 CL E G H9409912ORPHA1151498857603360
HP:0001508HP:0001508Failure to thrive0PEX16 CL E G H9409772ORPHA1151498857603360
HP:0001508HP:0001508Failure to thrive0PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM1151498857603360
HP:0001508HP:0001508Failure to thrive0PEX19 CL E G H5824772ORPHA141339713600279
HP:0001508HP:0001508Failure to thrive0PEX19 CL E G H5824912ORPHA141339713600279
HP:0001508HP:0001508Failure to thrive0PEX2 CL E G H5828912ORPHA1182089717170993
HP:0001508HP:0001508Failure to thrive0PEX2 CL E G H5828772ORPHA1182089717170993
HP:0001508HP:0001508Failure to thrive0PEX2 CL E G H5828614866Peroxisome biogenesis disorder 5a (zellweger)614866C3553940OMIM1182089717170993
HP:0001508HP:0001508Failure to thrive0PEX26 CL E G H55670912ORPHA12727722965608666
HP:0001508HP:0001508Failure to thrive0PEX26 CL E G H55670772ORPHA12727722965608666
HP:0001508HP:0001508Failure to thrive0PEX3 CL E G H8504912ORPHA1101168858603164
HP:0001508HP:0001508Failure to thrive0PEX3 CL E G H8504772ORPHA1101168858603164
HP:0001508HP:0001508Failure to thrive0PEX5 CL E G H5830912ORPHA1142809719600414
HP:0001508HP:0001508Failure to thrive0PEX5 CL E G H5830772ORPHA1142809719600414
HP:0001508HP:0001508Failure to thrive0PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM1142809719600414
HP:0001508HP:0001508Failure to thrive0PEX6 CL E G H5190912ORPHA11093758859601498
HP:0001508HP:0001508Failure to thrive0PEX6 CL E G H5190772ORPHA11093758859601498
HP:0001508HP:0001508Failure to thrive0PHGDH CL E G H2622779351ORPHA1231458923606879
HP:0001508HP:0001508Failure to thrive0PHOX2B CL E G H892999803Haddad syndromeC1859587ORPHA1883879143603851
HP:0001508HP:0001508Failure to thrive0PIEZO2 CL E G H638952461ORPHA13232926270613629
HP:0001508HP:0001508Failure to thrive0PIK3CA CL E G H529060040ORPHA1573798975171834
HP:0001508HP:0001508Failure to thrive0PIK3R1 CL E G H529533110ORPHA1291568979171833
HP:0001508HP:0001508Failure to thrive0PKP1 CL E G H5317158668ORPHA1181789023601975
HP:0001508HP:0001508Failure to thrive0PLAA CL E G H9373521426ORPHA13849043603873
HP:0001508HP:0001508Failure to thrive0PLAGL1 CL E G H532599886ORPHA12299046603044
HP:0001508HP:0001508Failure to thrive0PLEC CL E G H5339158684ORPHA110427619069601282
HP:0001508HP:0001508Failure to thrive0PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM13523009086300401
HP:0001508HP:0001508Failure to thrive0PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM11293639115601785
HP:0001508HP:0001508Failure to thrive0PNP CL E G H4860613179Purine-nucleoside phosphorylase deficiency613179C0268125OMIM1341397892164050
HP:0001508HP:0001508Failure to thrive0PNPLA1 CL E G H28584879394ORPHA14611521246612121
HP:0001508HP:0001508Failure to thrive0PNPO CL E G H5516379096ORPHA13118430260603287
HP:0001508HP:0001508Failure to thrive0PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM13118430260603287
HP:0001508HP:0001508Failure to thrive0POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM130011969179174763
HP:0001508HP:0001508Failure to thrive0POLR3A CL E G H11128264090Neonatal pseudo-hydrocephalic progeroid syndrome264090C0406586OMIM19230630074614258
HP:0001508HP:0001508Failure to thrive0POMP CL E G H51371618048PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2618048CN252342OMIM143720330613386
HP:0001508HP:0001508Failure to thrive0PPM1B CL E G H5495163693ORPHA11309276603770
HP:0001508HP:0001508Failure to thrive0PPP1CB CL E G H5500617506Noonan syndrome-like disorder with loose anagen hair 2617506C4479577OMIM112409282600590
HP:0001508HP:0001508Failure to thrive0PPP3CA CL E G H5530442835ORPHA111399314114105
HP:0001508HP:0001508Failure to thrive0PRDM16 CL E G H639761606ORPHA12167714000605557
HP:0001508HP:0001508Failure to thrive0PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM13229352176763
HP:0001508HP:0001508Failure to thrive0PREPL CL E G H9581163690ORPHA11827030228609557
HP:0001508HP:0001508Failure to thrive0PREPL CL E G H9581163693ORPHA11827030228609557
HP:0001508HP:0001508Failure to thrive0PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM11842359360170280
HP:0001508HP:0001508Failure to thrive0PROKR2 CL E G H12867495496ORPHA1839815836607123
HP:0001508HP:0001508Failure to thrive0PRSS1 CL E G H5644614044Trypsinogen deficiency614044C0268417OMIM1672649475276000
HP:0001508HP:0001508Failure to thrive0PSMB4 CL E G H5692617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM15179541602177
HP:0001508HP:0001508Failure to thrive0PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM111869545177046
HP:0001508HP:0001508Failure to thrive0PSMB9 CL E G H5698617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM15119546177045
HP:0001508HP:0001508Failure to thrive0PTDSS1 CL E G H9791151050Lenz-Majewski hyperostosis syndrome151050C0432269OMIM17609587612792
HP:0001508HP:0001508Failure to thrive0PTF1A CL E G H256297609069Diabetes mellitus, permanent neonatal, with cerebellar agenesis609069C1836780OMIM1166723734607194
HP:0001508HP:0001508Failure to thrive0PTRH2 CL E G H51651616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset616263C4015728OMIM123424265608625
HP:0001508HP:0001508Failure to thrive0PUS1 CL E G H80324600462Myopathy, lactic acidosis, and sideroblastic anemia 1600462C1838103OMIM1916115508608109
HP:0001508HP:0001508Failure to thrive0PYCR1 CL E G H5831612940Autosomal recessive cutis laxa type 2B612940C2751987OMIM1411449721179035
HP:0001508HP:0001508Failure to thrive0PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM1136330262616406
HP:0001508HP:0001508Failure to thrive0RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM16719317063602536
HP:0001508HP:0001508Failure to thrive0RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA1131499811606462
HP:0001508HP:0001508Failure to thrive0RAG1 CL E G H589639041ORPHA11873349831179615
HP:0001508HP:0001508Failure to thrive0RAG1 CL E G H5896603554Histiocytic medullary reticulosis603554C1801959OMIM11873349831179615
HP:0001508HP:0001508Failure to thrive0RAG1 CL E G H5896601457Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive601457C1832322OMIM11873349831179615
HP:0001508HP:0001508Failure to thrive0RAG2 CL E G H589739041ORPHA1841759832179616
HP:0001508HP:0001508Failure to thrive0RAG2 CL E G H5897603554Histiocytic medullary reticulosis603554C1801959OMIM1841759832179616
HP:0001508HP:0001508Failure to thrive0RAG2 CL E G H5897601457Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive601457C1832322OMIM1841759832179616
HP:0001508HP:0001508Failure to thrive0RAI1 CL E G H107431713ORPHA11164049834607642
HP:0001508HP:0001508Failure to thrive0RAP1A CL E G H59062322ORPHA12209855179520
HP:0001508HP:0001508Failure to thrive0RAP1B CL E G H59082322ORPHA11199857179530
HP:0001508HP:0001508Failure to thrive0RARS2 CL E G H57038611523Pontocerebellar hypoplasia type 6611523C1969084OMIM13721621406611524
HP:0001508HP:0001508Failure to thrive0RBCK1 CL E G H10616615895Polyglucosan body myopathy 1 with or without immunodeficiency615895C4014605OMIM11417815864610924
HP:0001508HP:0001508Failure to thrive0RBM10 CL E G H8241311900TARP syndrome311900C1839463OMIM1101979896300080
HP:0001508HP:0001508Failure to thrive0RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA110735724147183
HP:0001508HP:0001508Failure to thrive0RERE CL E G H4731606ORPHA1251619965605226
HP:0001508HP:0001508Failure to thrive0RET CL E G H597999803Haddad syndromeC1859587ORPHA143214969967164761
HP:0001508HP:0001508Failure to thrive0RFT1 CL E G H91869244310ORPHA11317930220611908
HP:0001508HP:0001508Failure to thrive0RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM11317930220611908
HP:0001508HP:0001508Failure to thrive0RFX5 CL E G H5993209920Bare lymphocyte syndrome 2209920C2931418OMIM1131429986601863
HP:0001508HP:0001508Failure to thrive0RFXANK CL E G H8625209920Bare lymphocyte syndrome 2209920C2931418OMIM1191059987603200
HP:0001508HP:0001508Failure to thrive0RFXAP CL E G H5994209920Bare lymphocyte syndrome 2209920C2931418OMIM191329988601861
HP:0001508HP:0001508Failure to thrive0RIT1 CL E G H6016615355Noonan syndrome 8615355C3809233OMIM12610610023609591
HP:0001508HP:0001508Failure to thrive0RMRP CL E G H602339041ORPHA112341110031157660
HP:0001508HP:0001508Failure to thrive0RMRP CL E G H6023175ORPHA112341110031157660
HP:0001508HP:0001508Failure to thrive0RNU4ATAC CL E G H100151683210710Osteodysplastic primordial dwarfism, type 1210710C1859452OMIM1245634016601428
HP:0001508HP:0001508Failure to thrive0ROBO1 CL E G H609195496ORPHA1199310249602430
HP:0001508HP:0001508Failure to thrive0RPL5 CL E G H6125612561Aase syndrome612561C0265265OMIM17710010360603634
HP:0001508HP:0001508Failure to thrive0RPS19 CL E G H6223105650Diamond-Blackfan anemia 1105650C2676137OMIM11759610402603474
HP:0001508HP:0001508Failure to thrive0RRM2B CL E G H50484612075Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy612075C2749861OMIM14321617296604712
HP:0001508HP:0001508Failure to thrive0RTEL1 CL E G H517503322ORPHA15468415888608833
HP:0001508HP:0001508Failure to thrive0RYR1 CL E G H6261424107ORPHA1688309410483180901
HP:0001508HP:0001508Failure to thrive0RYR1 CL E G H6261255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1688309410483180901
HP:0001508HP:0001508Failure to thrive0SAR1B CL E G H51128246700Chylomicron retention disease246700C0795956OMIM1163710535607690
HP:0001508HP:0001508Failure to thrive0SAR1B CL E G H5112871Human granulocytic ehrlichiosisORPHA1163710535607690
HP:0001508HP:0001508Failure to thrive0SARS2 CL E G H54938613845Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis613845C3151209OMIM1513717697612804
HP:0001508HP:0001508Failure to thrive0SBDS CL E G H51119811Balo diseaseORPHA1906019440607444
HP:0001508HP:0001508Failure to thrive0SBDS CL E G H51119260400Shwachman syndrome260400C0272170OMIM1906019440607444
HP:0001508HP:0001508Failure to thrive0SC5D CL E G H630946059ORPHA1618210547602286
HP:0001508HP:0001508Failure to thrive0SCN3A CL E G H6328442835ORPHA11942210590182391
HP:0001508HP:0001508Failure to thrive0SCN3A CL E G H6328617938Early infantile epileptic encephalopathy 62617938CN244551OMIM11942210590182391
HP:0001508HP:0001508Failure to thrive0SCN8A CL E G H6334442835ORPHA110375010596600702
HP:0001508HP:0001508Failure to thrive0SCNN1A CL E G H6337264350Pseudohypoaldosteronism type 1 autosomal recessive264350C1449843OMIM14917110599600228
HP:0001508HP:0001508Failure to thrive0SCNN1B CL E G H6338264350Pseudohypoaldosteronism type 1 autosomal recessive264350C1449843OMIM15014510600600760
HP:0001508HP:0001508Failure to thrive0SCNN1G CL E G H6340264350Pseudohypoaldosteronism type 1 autosomal recessive264350C1449843OMIM12312110602600761
HP:0001508HP:0001508Failure to thrive0SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1510110603603644
HP:0001508HP:0001508Failure to thrive0SDHA CL E G H6389255241ORPHA191127910680600857
HP:0001508HP:0001508Failure to thrive0SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM191127910680600857
HP:0001508HP:0001508Failure to thrive0SELENON CL E G H57190324604ORPHA16335415999606210
HP:0001508HP:0001508Failure to thrive0SELENON CL E G H571902020ORPHA16335415999606210
HP:0001508HP:0001508Failure to thrive0SELENON CL E G H57190255310Congenital myopathy with fiber type disproportion255310C0546264OMIM16335415999606210
HP:0001508HP:0001508Failure to thrive0SELENON CL E G H57190602771Eichsfeld type congenital muscular dystrophy602771C0410180OMIM16335415999606210
HP:0001508HP:0001508Failure to thrive0SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM15214021061614725
HP:0001508HP:0001508Failure to thrive0SETBP1 CL E G H26040269150Schinzel-Giedion syndrome269150C0265227OMIM14721215573611060
HP:0001508HP:0001508Failure to thrive0SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA13823625566615743
HP:0001508HP:0001508Failure to thrive0SFTPB CL E G H6439265120Surfactant metabolism dysfunction, pulmonary, 1265120C1968602OMIM13110110801178640
HP:0001508HP:0001508Failure to thrive0SFTPC CL E G H6440610913Surfactant metabolism dysfunction, pulmonary, 2610913C1970470OMIM18713510802178620
HP:0001508HP:0001508Failure to thrive0SGO1 CL E G H151648616201Chronic atrial and intestinal dysrhythmia616201C4015474OMIM112925088609168
HP:0001508HP:0001508Failure to thrive0SIL1 CL E G H64374248800Marinesco-Sjögren syndrome248800C0024814OMIM14916724624608005
HP:0001508HP:0001508Failure to thrive0SKI CL E G H64971606ORPHA12450210896164780
HP:0001508HP:0001508Failure to thrive0SKIV2L CL E G H6499614602Trichohepatoenteric syndrome 2614602C3281289OMIM13612010898600478
HP:0001508HP:0001508Failure to thrive0SLC10A2 CL E G H6555613291Bile acid malabsorption, primary613291C2750087OMIM1916010906601295
HP:0001508HP:0001508Failure to thrive0SLC12A1 CL E G H6557601678Bartter syndrome, type 1, antenatal601678C1866495OMIM19018410910600839
HP:0001508HP:0001508Failure to thrive0SLC13A5 CL E G H284111442835ORPHA12131223089608305
HP:0001508HP:0001508Failure to thrive0SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM15519210933604322
HP:0001508HP:0001508Failure to thrive0SLC19A3 CL E G H80704255241ORPHA13831816266606152
HP:0001508HP:0001508Failure to thrive0SLC1A2 CL E G H6506442835ORPHA184910940600300
HP:0001508HP:0001508Failure to thrive0SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM116149210969603377
HP:0001508HP:0001508Failure to thrive0SLC25A13 CL E G H10165605814Neonatal intrahepatic cholestasis caused by citrin deficiency605814C1853942OMIM111522910983603859
HP:0001508HP:0001508Failure to thrive0SLC25A15 CL E G H10166238970Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome238970C0268540OMIM13820810985603861
HP:0001508HP:0001508Failure to thrive0SLC25A24 CL E G H299572963ORPHA123520662608744
HP:0001508HP:0001508Failure to thrive0SLC25A3 CL E G H525091130ORPHA157710989600370
HP:0001508HP:0001508Failure to thrive0SLC26A3 CL E G H1811214700Congenital secretory diarrhea, chloride type214700C0267662OMIM1891503018126650
HP:0001508HP:0001508Failure to thrive0SLC2A2 CL E G H6514227810Fanconi-Bickel syndrome227810C3495427OMIM18014611006138160
HP:0001508HP:0001508Failure to thrive0SLC34A3 CL E G H142680241530Autosomal recessive hypophosphatemic bone disease241530C1853271OMIM14022320305609826
HP:0001508HP:0001508Failure to thrive0SLC39A13 CL E G H91252157965ORPHA1910420859608735
HP:0001508HP:0001508Failure to thrive0SLC39A4 CL E G H5563037Chromosome 3, monosomy 3pC0795806ORPHA15223617129607059
HP:0001508HP:0001508Failure to thrive0SLC39A4 CL E G H55630201100Hereditary acrodermatitis enteropathica201100C0221036OMIM15223617129607059
HP:0001508HP:0001508Failure to thrive0SLC3A1 CL E G H6519163690ORPHA124121111025104614
HP:0001508HP:0001508Failure to thrive0SLC3A1 CL E G H6519163693ORPHA124121111025104614
HP:0001508HP:0001508Failure to thrive0SLC46A1 CL E G H11323590045ORPHA12316630521611672
HP:0001508HP:0001508Failure to thrive0SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM12316630521611672
HP:0001508HP:0001508Failure to thrive0SLC4A1 CL E G H6521611590Renal tubular acidosis, distal, with hemolytic anemia611590C1969038OMIM115022711027109270
HP:0001508HP:0001508Failure to thrive0SLC5A1 CL E G H6523606824Congenital glucose-galactose malabsorption606824C0268186OMIM16114611036182380
HP:0001508HP:0001508Failure to thrive0SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM113954211055300036
HP:0001508HP:0001508Failure to thrive0SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM16725211065603593
HP:0001508HP:0001508Failure to thrive0SMAD4 CL E G H4089174900Juvenile polyposis syndrome174900C0345893OMIM114712576770600993
HP:0001508HP:0001508Failure to thrive0SMARCA2 CL E G H6595601358Nicolaides-Baraitser syndrome601358C1303073OMIM17844511098600014
HP:0001508HP:0001508Failure to thrive0SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA110048411111300040
HP:0001508HP:0001508Failure to thrive0SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA1282132468606062
HP:0001508HP:0001508Failure to thrive0SMOC1 CL E G H640931106ORPHA1155420318608488
HP:0001508HP:0001508Failure to thrive0SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM125439711120607608
HP:0001508HP:0001508Failure to thrive0SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM11352711133604202
HP:0001508HP:0001508Failure to thrive0SNX10 CL E G H29887615085Osteopetrosis, autosomal recessive 8615085C3554478OMIM1134614974614780
HP:0001508HP:0001508Failure to thrive0SON CL E G H6651617140ZTTK syndrome617140C4310696OMIM12822411183182465
HP:0001508HP:0001508Failure to thrive0SOX9 CL E G H6662114290Camptomelic dysplasia114290C1861922OMIM114915511204608160
HP:0001508HP:0001508Failure to thrive0SPINK5 CL E G H11005256500Netherton syndrome256500C0265962OMIM18938315464605010
HP:0001508HP:0001508Failure to thrive0SRP54 CL E G H6729811Balo diseaseORPHA133111301604857
HP:0001508HP:0001508Failure to thrive0SRP54 CL E G H6729260400Shwachman syndrome260400C0272170OMIM133111301604857
HP:0001508HP:0001508Failure to thrive0SSR4 CL E G H6748370927ORPHA1725011326300090
HP:0001508HP:0001508Failure to thrive0SSR4 CL E G H6748300934Congenital disorder of glycosylation type 1y300934C4012395OMIM1725011326300090
HP:0001508HP:0001508Failure to thrive0ST3GAL5 CL E G H8869370938ORPHA1716310872604402
HP:0001508HP:0001508Failure to thrive0ST3GAL5 CL E G H8869609056Amish infantile epilepsy syndrome609056C1836824OMIM1716310872604402
HP:0001508HP:0001508Failure to thrive0STAMBP CL E G H10617614261Microcephaly-capillary malformation syndrome614261C3280296OMIM1204616950606247
HP:0001508HP:0001508Failure to thrive0STAT3 CL E G H677499885ORPHA115529111364102582
HP:0001508HP:0001508Failure to thrive0STT3A CL E G H3703370921ORPHA131066172601134
HP:0001508HP:0001508Failure to thrive0STT3A CL E G H3703615596Congenital disorder of glycosylation type 1w615596C3810062OMIM131066172601134
HP:0001508HP:0001508Failure to thrive0STT3B CL E G H201595370924ORPHA156630611608605
HP:0001508HP:0001508Failure to thrive0STT3B CL E G H201595615597Congenital disorder of glycosylation type 1x615597C2931007OMIM156630611608605
HP:0001508HP:0001508Failure to thrive0STXBP1 CL E G H6812442835ORPHA119553811444602926
HP:0001508HP:0001508Failure to thrive0SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM12918911448603921
HP:0001508HP:0001508Failure to thrive0SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM12812011449611224
HP:0001508HP:0001508Failure to thrive0SUGCT CL E G H79783231690Glutaryl-CoA oxidase deficiency231690C0342873OMIM178416001609187
HP:0001508HP:0001508Failure to thrive0SURF1 CL E G H6834255241ORPHA112818911474185620
HP:0001508HP:0001508Failure to thrive0SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM112818911474185620
HP:0001508HP:0001508Failure to thrive0SYNGAP1 CL E G H8831442835ORPHA18651711497603384
HP:0001508HP:0001508Failure to thrive0SYNJ1 CL E G H8867442835ORPHA12745211503604297
HP:0001508HP:0001508Failure to thrive0SZT2 CL E G H23334442835ORPHA12595929040615463
HP:0001508HP:0001508Failure to thrive0TACO1 CL E G H51204255241ORPHA135724316612958
HP:0001508HP:0001508Failure to thrive0TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM135724316612958
HP:0001508HP:0001508Failure to thrive0TALDO1 CL E G H6888606003Deficiency of transaldolase606003C1291329OMIM1108811559602063
HP:0001508HP:0001508Failure to thrive0TAZ CL E G H69013020603-Methylglutaconic aciduria type 2302060C0574083OMIM115840011577300394
HP:0001508HP:0001508Failure to thrive0TBR1 CL E G H107161617ORPHA1187811590604616
HP:0001508HP:0001508Failure to thrive0TCF3 CL E G H692933110ORPHA159111633147141
HP:0001508HP:0001508Failure to thrive0TCF4 CL E G H69252896Hypogonadism retinitis pigmentosaORPHA114862411634602272
HP:0001508HP:0001508Failure to thrive0TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM113728911647604592
HP:0001508HP:0001508Failure to thrive0TCN2 CL E G H6948275350Transcobalamin II deficiency275350C0342701OMIM14120811653613441
HP:0001508HP:0001508Failure to thrive0TCTN3 CL E G H261232754ORPHA1129524519613847
HP:0001508HP:0001508Failure to thrive0TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA1129524519613847
HP:0001508HP:0001508Failure to thrive0TERT CL E G H70153322ORPHA1173115911730187270
HP:0001508HP:0001508Failure to thrive0TFAM CL E G H7019617156Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)617156C4310690OMIM143411741600438
HP:0001508HP:0001508Failure to thrive0TGDS CL E G H234831388Cleft palate colobomata radial synostosis deafnessORPHA178120324616146
HP:0001508HP:0001508Failure to thrive0TGM1 CL E G H705179394ORPHA118929611777190195
HP:0001508HP:0001508Failure to thrive0TIMM50 CL E G H926096176983-METHYLGLUTACONIC ACIDURIA, TYPE IX617698C4540171OMIM161723656607381
HP:0001508HP:0001508Failure to thrive0TINF2 CL E G H262773322ORPHA14216511824604319
HP:0001508HP:0001508Failure to thrive0TJP2 CL E G H9414607748Hypercholanemia, familial607748C1843139OMIM12734411828607709
HP:0001508HP:0001508Failure to thrive0TMEM126B CL E G H55863618250MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29618250OMIM143630883615533
HP:0001508HP:0001508Failure to thrive0TMEM165 CL E G H55858614727Congenital disorder of glycosylation type 2k614727C3553571OMIM166830760614726
HP:0001508HP:0001508Failure to thrive0TMEM173 CL E G H340061615934Sting-associated vasculopathy, infantile-onset615934C4014722OMIM11527962612374
HP:0001508HP:0001508Failure to thrive0TMEM216 CL E G H512592754ORPHA1810925018613277
HP:0001508HP:0001508Failure to thrive0TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM1810925018613277
HP:0001508HP:0001508Failure to thrive0TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM11815126050612418
HP:0001508HP:0001508Failure to thrive0TMPRSS15 CL E G H5651226200Enterokinase deficiency226200C0268416OMIM161059490606635
HP:0001508HP:0001508Failure to thrive0TPM2 CL E G H71692020ORPHA14019912011190990
HP:0001508HP:0001508Failure to thrive0TPM2 CL E G H7169255310Congenital myopathy with fiber type disproportion255310C0546264OMIM14019912011190990
HP:0001508HP:0001508Failure to thrive0TPM3 CL E G H71702020ORPHA12822512012191030
HP:0001508HP:0001508Failure to thrive0TPM3 CL E G H7170255310Congenital myopathy with fiber type disproportion255310C0546264OMIM12822512012191030
HP:0001508HP:0001508Failure to thrive0TRAC CL E G H28755615387T-cell receptor alpha/beta deficiency615387C3809332OMIM111212029186880
HP:0001508HP:0001508Failure to thrive0TRAK1 CL E G H22906442835ORPHA162529947608112
HP:0001508HP:0001508Failure to thrive0TRMT10C CL E G H54931616974Combined oxidative phosphorylation deficiency 30616974C4310773OMIM121926022615423
HP:0001508HP:0001508Failure to thrive0TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM144523141611023
HP:0001508HP:0001508Failure to thrive0TTC37 CL E G H9652222470Trichohepatoenteric syndrome 1222470CN034858OMIM16412823639614589
HP:0001508HP:0001508Failure to thrive0TTN CL E G H7273324604ORPHA13461438512403188840
HP:0001508HP:0001508Failure to thrive0TWIST2 CL E G H1175811231ORPHA198820670607556
HP:0001508HP:0001508Failure to thrive0UBA5 CL E G H79876442835ORPHA1184823230610552
HP:0001508HP:0001508Failure to thrive0UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM1184823230610552
HP:0001508HP:0001508Failure to thrive0UBE3B CL E G H899102707ORPHA1255413478608047
HP:0001508HP:0001508Failure to thrive0UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA1719816808605981
HP:0001508HP:0001508Failure to thrive0UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM1719816808605981
HP:0001508HP:0001508Failure to thrive0UFC1 CL E G H51506618076NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH618076CN252685OMIM121726941610554
HP:0001508HP:0001508Failure to thrive0USP8 CL E G H910196253ORPHA118512631603158
HP:0001508HP:0001508Failure to thrive0VDR CL E G H7421277440Vitamin D-dependent rickets, type 2277440C0342646OMIM17118412679601769
HP:0001508HP:0001508Failure to thrive0VIPAS39 CL E G H63894613404Arthrogryposis, renal dysfunction, and cholestasis 2613404C3150672OMIM11310220347613401
HP:0001508HP:0001508Failure to thrive0VPS33B CL E G H26276208085Arthrogryposis renal dysfunction cholestasis syndrome208085C1859722OMIM15817912712608552
HP:0001508HP:0001508Failure to thrive0VPS45 CL E G H11311615285Severe congenital neutropenia 5, autosomal recessive615285C3809031OMIM1410214579610035
HP:0001508HP:0001508Failure to thrive0WDR11 CL E G H5571795496ORPHA1189113831606417
HP:0001508HP:0001508Failure to thrive0WDR60 CL E G H55112615503Short-rib thoracic dysplasia 8 with or without polydactyly615503C3809691OMIM11321862615462
HP:0001508HP:0001508Failure to thrive0WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM1127640
HP:0001508HP:0001508Failure to thrive0WWOX CL E G H51741442835ORPHA15059612799605131
HP:0001508HP:0001508Failure to thrive0XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA15115512814611153
HP:0001508HP:0001508Failure to thrive0XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA110030712816613208
HP:0001508HP:0001508Failure to thrive0YARS2 CL E G H51067613561Myopathy, lactic acidosis, and sideroblastic anemia 2613561C3150802OMIM11320324249610957
HP:0001508HP:0001508Failure to thrive0YWHAG CL E G H7532442835ORPHA155112852605356
HP:0001508HP:0001508Failure to thrive0ZAP70 CL E G H7535269840Severe combined immunodeficiency, atypical269840C1849236OMIM13018612858176947
HP:0001508HP:0001508Failure to thrive0ZFP57 CL E G H34617199886ORPHA1155018791612192
HP:0001508HP:0001508Failure to thrive0ZIC3 CL E G H7547306955Heterotaxy, visceral, X-linked306955