Human Phenotype Ontology 
Grandparent Node:
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Phenotypic abnormality (HP:0000118)help
Parent Node:
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Growth abnormality (HP:0001507)help
..Starting node
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Growth delay (HP:0001510)help
Term ID: 1510
Name: Growth delay
Synonym: Delayed growth; Growth deficiency; Growth delay; Growth failure; Growth retardation; Poor growth; Retarded growth; Very poor growth
Definition: A deficiency or slowing down of growth pre- and postnatally.
Comments:
Reference: HP:0001510
Genes and Diseases:
 
       Child Nodes:
........expandDelayed puberty (HP:0000823) help
................... HP:0012569 Delayed menarche
................... HP:0025453 Delayed adrenarche
................... HP:0025515 Delayed thelarche
........expandIntrauterine growth retardation (HP:0001511) help
................... HP:0008846 Severe intrauterine growth retardation
................... HP:0008883 Mild intrauterine growth retardation
................... HP:0011408 Moderate intrauterine growth retardation
........expandShort stature (HP:0004322) help
................... HP:0000839 Pituitary dwarfism
................... HP:0003498 Disproportionate short stature
................... HP:0003508 Proportionate short stature
................... HP:0003561 Birth length less than 3rd percentile
................... HP:0008929 Asymmetric short stature
........expandPostnatal growth retardation (HP:0008897) help
................... HP:0001530 Mild postnatal growth retardation
................... HP:0008850 Severe postnatal growth retardation
................... HP:0008855 Moderate postnatal growth retardation
........expandAbsent pubertal growth spurt (HP:0031087) help

 Sister Nodes: 
..expandAbnormality of body height (HP:0000002) help
..expandAbnormality of body weight (HP:0004323) help
..expandAsymmetric growth (HP:0100555) help
..expandHeterotaxy (HP:0030853) help
..expandIncreased body fat percentage (HP:0025521) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001510HP:0001510Growth delay0ABCD4 CL E G H5826614857METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE614857C3553915OMIM125968603214
HP:0001510HP:0001510Growth delay0ABCD4 CL E G H5826614857METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE614857C3553915OMIM128568603214
HP:0001510HP:0001510Growth delay0ACACA CL E G H31613933Acetyl-CoA: carboxylase deficiency613933C0268603OMIM114184200350
HP:0001510HP:0001510Growth delay0ACACA CL E G H31613933Acetyl-CoA: carboxylase deficiency613933C0268603OMIM115384200350
HP:0001510HP:0001510Growth delay0ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA1322132102630
HP:0001510HP:0001510Growth delay0ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA1349132102630
HP:0001510HP:0001510Growth delay0ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA1347144102560
HP:0001510HP:0001510Growth delay0ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA1370144102560
HP:0001510HP:0001510Growth delay0ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1368291608222
HP:0001510HP:0001510Growth delay0ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1582291608222
HP:0001510HP:0001510Growth delay0AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM122021869610345
HP:0001510HP:0001510Growth delay0AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM123621869610345
HP:0001510HP:0001510Growth delay0AHCY CL E G H19188618ORPHA1113343180960
HP:0001510HP:0001510Growth delay0AHCY CL E G H19188618ORPHA1126343180960
HP:0001510HP:0001510Growth delay0ALOX12B CL E G H242242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM1285430603741
HP:0001510HP:0001510Growth delay0ALOX12B CL E G H242242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM1291430603741
HP:0001510HP:0001510Growth delay0ALOXE3 CL E G H59344242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM120213743607206
HP:0001510HP:0001510Growth delay0ALOXE3 CL E G H59344242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM120913743607206
HP:0001510HP:0001510Growth delay0ANTXR1 CL E G H84168230740Odontotrichomelic syndrome230740C0406723OMIM18321014606410
HP:0001510HP:0001510Growth delay0ANTXR1 CL E G H84168230740Odontotrichomelic syndrome230740C0406723OMIM18421014606410
HP:0001510HP:0001510Growth delay0AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM153559603531
HP:0001510HP:0001510Growth delay0AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM155559603531
HP:0001510HP:0001510Growth delay0ATP6V0A4 CL E G H50617602722Renal tubular acidosis, distal, autosomal recessive602722C1864498OMIM1298866605239
HP:0001510HP:0001510Growth delay0ATP6V0A4 CL E G H50617602722Renal tubular acidosis, distal, autosomal recessive602722C1864498OMIM1320866605239
HP:0001510HP:0001510Growth delay0ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11103886300032
HP:0001510HP:0001510Growth delay0ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11217886300032
HP:0001510HP:0001510Growth delay0AVP CL E G H55130925ORPHA176894192340
HP:0001510HP:0001510Growth delay0BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM150220893300485
HP:0001510HP:0001510Growth delay0BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM153620893300485
HP:0001510HP:0001510Growth delay0CAMKMT CL E G H79823163693ORPHA13226276609559
HP:0001510HP:0001510Growth delay0CAMKMT CL E G H79823163693ORPHA13326276609559
HP:0001510HP:0001510Growth delay0CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM188129253612013
HP:0001510HP:0001510Growth delay0CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1106429253612013
HP:0001510HP:0001510Growth delay0CD55 CL E G H1604226300Protein-losing enteropathy226300C0033680OMIM1492665125240
HP:0001510HP:0001510Growth delay0CD55 CL E G H1604226300Protein-losing enteropathy226300C0033680OMIM1982665125240
HP:0001510HP:0001510Growth delay0CLCN7 CL E G H1186667ORPHA13882025602727
HP:0001510HP:0001510Growth delay0CLCN7 CL E G H1186667ORPHA15492025602727
HP:0001510HP:0001510Growth delay0CLP1 CL E G H10978411493ORPHA14016999608757
HP:0001510HP:0001510Growth delay0CLP1 CL E G H10978411493ORPHA14916999608757
HP:0001510HP:0001510Growth delay0CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM14016999608757
HP:0001510HP:0001510Growth delay0CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM14916999608757
HP:0001510HP:0001510Growth delay0CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM133730664616254
HP:0001510HP:0001510Growth delay0CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM140430664616254
HP:0001510HP:0001510Growth delay0COG4 CL E G H25839263501ORPHA122118620606976
HP:0001510HP:0001510Growth delay0COG4 CL E G H25839263501ORPHA124718620606976
HP:0001510HP:0001510Growth delay0COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM116582214120120
HP:0001510HP:0001510Growth delay0COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM120282214120120
HP:0001510HP:0001510Growth delay0COLEC10 CL E G H10584248340Malpuech facial clefting syndrome248340C0796032OMIM1542220607620
HP:0001510HP:0001510Growth delay0COLEC10 CL E G H10584248340Malpuech facial clefting syndrome248340C0796032OMIM1552220607620
HP:0001510HP:0001510Growth delay0CTNS CL E G H1497411629ORPHA15502518606272
HP:0001510HP:0001510Growth delay0CTNS CL E G H1497411629ORPHA15912518606272
HP:0001510HP:0001510Growth delay0CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM11342873613213
HP:0001510HP:0001510Growth delay0CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM11442873613213
HP:0001510HP:0001510Growth delay0CYP11B2 CL E G H1585203400Corticosterone methyloxidase type 1 deficiency203400CN074214OMIM13552592124080
HP:0001510HP:0001510Growth delay0CYP11B2 CL E G H1585203400Corticosterone methyloxidase type 1 deficiency203400CN074214OMIM13742592124080
HP:0001510HP:0001510Growth delay0CYP11B2 CL E G H1585610600Corticosterone methyloxidase type 2 deficiency610600C3463917OMIM13552592124080
HP:0001510HP:0001510Growth delay0CYP11B2 CL E G H1585610600Corticosterone methyloxidase type 2 deficiency610600C3463917OMIM13742592124080
HP:0001510HP:0001510Growth delay0CYP19A1 CL E G H158891Malignant melanoma, childhoodORPHA12722594107910
HP:0001510HP:0001510Growth delay0CYP19A1 CL E G H158891Malignant melanoma, childhoodORPHA12882594107910
HP:0001510HP:0001510Growth delay0CYP27B1 CL E G H1594264700Vitamin D-dependent rickets, type 1264700C0268689OMIM11182606609506
HP:0001510HP:0001510Growth delay0CYP27B1 CL E G H1594264700Vitamin D-dependent rickets, type 1264700C0268689OMIM11362606609506
HP:0001510HP:0001510Growth delay0CYP2R1 CL E G H120227600081Vitamin d hydroxylation-deficient rickets, type 1b600081C1838657OMIM16320580608713
HP:0001510HP:0001510Growth delay0CYP2R1 CL E G H120227600081Vitamin d hydroxylation-deficient rickets, type 1b600081C1838657OMIM17420580608713
HP:0001510HP:0001510Growth delay0DCHS1 CL E G H8642601390601390601390OMIM134713681603057
HP:0001510HP:0001510Growth delay0DCHS1 CL E G H8642601390601390601390OMIM150213681603057
HP:0001510HP:0001510Growth delay0DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM11402858601465
HP:0001510HP:0001510Growth delay0DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM11562858601465
HP:0001510HP:0001510Growth delay0DHODH CL E G H1723263750Miller syndrome263750C0265257OMIM11462867126064
HP:0001510HP:0001510Growth delay0DHODH CL E G H1723263750Miller syndrome263750C0265257OMIM11512867126064
HP:0001510HP:0001510Growth delay0DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM13383012612779
HP:0001510HP:0001510Growth delay0DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM13403012612779
HP:0001510HP:0001510Growth delay0DPYS CL E G H1807222748Dihydropyrimidinase deficiency222748C0342803OMIM11153013613326
HP:0001510HP:0001510Growth delay0DPYS CL E G H1807222748Dihydropyrimidinase deficiency222748C0342803OMIM11413013613326
HP:0001510HP:0001510Growth delay0DSG1 CL E G H1828615508Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige615508C3809719OMIM11683048125670
HP:0001510HP:0001510Growth delay0DSG1 CL E G H1828615508Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige615508C3809719OMIM13093048125670
HP:0001510HP:0001510Growth delay0DST CL E G H667614653Neuropathy, hereditary sensory and autonomic, type VI614653C3539003OMIM119031090113810
HP:0001510HP:0001510Growth delay0DST CL E G H667614653Neuropathy, hereditary sensory and autonomic, type VI614653C3539003OMIM124181090113810
HP:0001510HP:0001510Growth delay0DUOXA2 CL E G H405753274900Thyroglobulin synthesis defect274900C0342196OMIM16932698612772
HP:0001510HP:0001510Growth delay0DUOXA2 CL E G H405753274900Thyroglobulin synthesis defect274900C0342196OMIM17032698612772
HP:0001510HP:0001510Growth delay0EIF2S3 CL E G H196885282ORPHA11903267300161
HP:0001510HP:0001510Growth delay0EIF2S3 CL E G H196885282ORPHA11963267300161
HP:0001510HP:0001510Growth delay0ELAC2 CL E G H60528615440Combined oxidative phosphorylation deficiency 17615440C3809526OMIM135414198605367
HP:0001510HP:0001510Growth delay0ELAC2 CL E G H60528615440Combined oxidative phosphorylation deficiency 17615440C3809526OMIM154114198605367
HP:0001510HP:0001510Growth delay0ELOVL4 CL E G H6785614457Ichthyosis, spastic quadriplegia, and mental retardation614457C3280856OMIM117814415605512
HP:0001510HP:0001510Growth delay0ELOVL4 CL E G H6785614457Ichthyosis, spastic quadriplegia, and mental retardation614457C3280856OMIM121314415605512
HP:0001510HP:0001510Growth delay0ELP1 CL E G H85181764ORPHA110545959603722
HP:0001510HP:0001510Growth delay0ELP1 CL E G H85181764ORPHA111815959603722
HP:0001510HP:0001510Growth delay0ELP1 CL E G H8518223900Familial dysautonomia223900C0013364OMIM110545959603722
HP:0001510HP:0001510Growth delay0ELP1 CL E G H8518223900Familial dysautonomia223900C0013364OMIM111815959603722
HP:0001510HP:0001510Growth delay0EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM180129331615068
HP:0001510HP:0001510Growth delay0EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM1103329331615068
HP:0001510HP:0001510Growth delay0EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM116117944606489
HP:0001510HP:0001510Growth delay0EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM117517944606489
HP:0001510HP:0001510Growth delay0FANCB CL E G H2187300514Fanconi anemia, complementation group B300514C1845292OMIM14103583300515
HP:0001510HP:0001510Growth delay0FANCB CL E G H2187300514Fanconi anemia, complementation group B300514C1845292OMIM14813583300515
HP:0001510HP:0001510Growth delay0FAR1 CL E G H84188616154Peroxisomal fatty acyl-coa reductase 1 disorder616154C4015344OMIM16626222616107
HP:0001510HP:0001510Growth delay0FAR1 CL E G H84188616154Peroxisomal fatty acyl-coa reductase 1 disorder616154C4015344OMIM112626222616107
HP:0001510HP:0001510Growth delay0FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM136121062611592
HP:0001510HP:0001510Growth delay0FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM142921062611592
HP:0001510HP:0001510Growth delay0FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM151923109612411
HP:0001510HP:0001510Growth delay0FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM198923109612411
HP:0001510HP:0001510Growth delay0FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM145813601605654
HP:0001510HP:0001510Growth delay0FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM147413601605654
HP:0001510HP:0001510Growth delay0FOXG1 CL E G H2290261144ORPHA14913811164874
HP:0001510HP:0001510Growth delay0FOXG1 CL E G H2290261144ORPHA15343811164874
HP:0001510HP:0001510Growth delay0FRMD4A CL E G H55691466688ORPHA15725491616305
HP:0001510HP:0001510Growth delay0FRMD4A CL E G H55691466688ORPHA15825491616305
HP:0001510HP:0001510Growth delay0FTCD CL E G H10841229100GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY229100C0268609OMIM12353974606806
HP:0001510HP:0001510Growth delay0FTCD CL E G H10841229100GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY229100C0268609OMIM12663974606806
HP:0001510HP:0001510Growth delay0G6PC3 CL E G H92579612541Severe congenital neutropenia 4, autosomal recessive612541C2675526OMIM115924861611045
HP:0001510HP:0001510Growth delay0G6PC3 CL E G H92579612541Severe congenital neutropenia 4, autosomal recessive612541C2675526OMIM119824861611045
HP:0001510HP:0001510Growth delay0GK CL E G H2710307030Deficiency of glycerol kinase307030C0268418OMIM12204289300474
HP:0001510HP:0001510Growth delay0GK CL E G H2710307030Deficiency of glycerol kinase307030C0268418OMIM12224289300474
HP:0001510HP:0001510Growth delay0GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM14924247610516
HP:0001510HP:0001510Growth delay0GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM16724247610516
HP:0001510HP:0001510Growth delay0GNAS CL E G H2778166350Progressive osseous heteroplasia166350C0334041OMIM13334392139320
HP:0001510HP:0001510Growth delay0GNAS CL E G H2778166350Progressive osseous heteroplasia166350C0334041OMIM13714392139320
HP:0001510HP:0001510Growth delay0GNB1 CL E G H2782488613ORPHA12174396139380
HP:0001510HP:0001510Growth delay0GNB1 CL E G H2782488613ORPHA12504396139380
HP:0001510HP:0001510Growth delay0GUCY2D CL E G H3000204000Leber congenital amaurosis 1204000C2931258OMIM15934689600179
HP:0001510HP:0001510Growth delay0GUCY2D CL E G H3000204000Leber congenital amaurosis 1204000C2931258OMIM17314689600179
HP:0001510HP:0001510Growth delay0HADH CL E G H3033231530Deficiency of 3-hydroxyacyl-CoA dehydrogenase231530C1291230OMIM11374799601609
HP:0001510HP:0001510Growth delay0HADH CL E G H3033231530Deficiency of 3-hydroxyacyl-CoA dehydrogenase231530C1291230OMIM11564799601609
HP:0001510HP:0001510Growth delay0HIC1 CL E G H3090531Acute myeloblastic leukemia type 6ORPHA1774909603825
HP:0001510HP:0001510Growth delay0HIC1 CL E G H3090531Acute myeloblastic leukemia type 6ORPHA1784909603825
HP:0001510HP:0001510Growth delay0HLCS CL E G H314179242ORPHA15814976609018
HP:0001510HP:0001510Growth delay0HLCS CL E G H314179242ORPHA16234976609018
HP:0001510HP:0001510Growth delay0HMOX1 CL E G H3162614034Heme oxygenase 1 deficiency614034C1841651OMIM1605013141250
HP:0001510HP:0001510Growth delay0HMOX1 CL E G H3162614034Heme oxygenase 1 deficiency614034C1841651OMIM1995013141250
HP:0001510HP:0001510Growth delay0HSD11B2 CL E G H3291218030Apparent mineralocorticoid excess218030C2936861OMIM1725209614232
HP:0001510HP:0001510Growth delay0HSD11B2 CL E G H3291218030Apparent mineralocorticoid excess218030C2936861OMIM1745209614232
HP:0001510HP:0001510Growth delay0HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM19614348606441
HP:0001510HP:0001510Growth delay0HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM113214348606441
HP:0001510HP:0001510Growth delay0IL21 CL E G H59067615767Common variable immunodeficiency 11615767C4014258OMIM1486005605384
HP:0001510HP:0001510Growth delay0IL21 CL E G H59067615767Common variable immunodeficiency 11615767C4014258OMIM1636005605384
HP:0001510HP:0001510Growth delay0IYD CL E G H389434274800Iodotyrosine deiodination defect274800C0342195OMIM16521071612025
HP:0001510HP:0001510Growth delay0KIF7 CL E G H374654200990Acrocallosal syndrome, Schinzel type200990C0796147OMIM154030497611254
HP:0001510HP:0001510Growth delay0KIF7 CL E G H374654200990Acrocallosal syndrome, Schinzel type200990C0796147OMIM181330497611254
HP:0001510HP:0001510Growth delay0KRAS CL E G H38453339ORPHA13316407190070
HP:0001510HP:0001510Growth delay0KRAS CL E G H38453339ORPHA13416407190070
HP:0001510HP:0001510Growth delay0KRT14 CL E G H386189838ORPHA11486416148066
HP:0001510HP:0001510Growth delay0KRT14 CL E G H386189838ORPHA11556416148066
HP:0001510HP:0001510Growth delay0KRT14 CL E G H3861131760Epidermolysis bullosa herpetiformis, Dowling-Meara131760C0079295OMIM11486416148066
HP:0001510HP:0001510Growth delay0KRT14 CL E G H3861131760Epidermolysis bullosa herpetiformis, Dowling-Meara131760C0079295OMIM11556416148066
HP:0001510HP:0001510Growth delay0KRT5 CL E G H3852131760Epidermolysis bullosa herpetiformis, Dowling-Meara131760C0079295OMIM12416442148040
HP:0001510HP:0001510Growth delay0KRT5 CL E G H3852131760Epidermolysis bullosa herpetiformis, Dowling-Meara131760C0079295OMIM12526442148040
HP:0001510HP:0001510Growth delay0LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM126316429607031
HP:0001510HP:0001510Growth delay0LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM130916429607031
HP:0001510HP:0001510Growth delay0LIG4 CL E G H398199812ORPHA13886601601837
HP:0001510HP:0001510Growth delay0LIG4 CL E G H398199812ORPHA14676601601837
HP:0001510HP:0001510Growth delay0LINS1 CL E G H55180614340Mental retardation, autosomal recessive 27614340C3280538OMIM121530922610350
HP:0001510HP:0001510Growth delay0LINS1 CL E G H55180614340Mental retardation, autosomal recessive 27614340C3280538OMIM121830922610350
HP:0001510HP:0001510Growth delay0LIPA CL E G H398875233ORPHA13396617613497
HP:0001510HP:0001510Growth delay0LIPA CL E G H398875233ORPHA13726617613497
HP:0001510HP:0001510Growth delay0LMNA CL E G H4000176670Hutchinson-Gilford syndrome176670C0033300OMIM113476636150330
HP:0001510HP:0001510Growth delay0LMNA CL E G H4000176670Hutchinson-Gilford syndrome176670C0033300OMIM114866636150330
HP:0001510HP:0001510Growth delay0LPIN2 CL E G H9663609628Majeed syndrome609628C1864997OMIM164714450605519
HP:0001510HP:0001510Growth delay0LPIN2 CL E G H9663609628Majeed syndrome609628C1864997OMIM171514450605519
HP:0001510HP:0001510Growth delay0LRBA CL E G H987614700Common variable immunodeficiency 8, with autoimmunity614700C3553512OMIM19861742606453
HP:0001510HP:0001510Growth delay0LRBA CL E G H987614700Common variable immunodeficiency 8, with autoimmunity614700C3553512OMIM112531742606453
HP:0001510HP:0001510Growth delay0MALT1 CL E G H10892615468Immunodeficiency 12615468C3809583OMIM12186819604860
HP:0001510HP:0001510Growth delay0MALT1 CL E G H10892615468Immunodeficiency 12615468C3809583OMIM12806819604860
HP:0001510HP:0001510Growth delay0MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM16536826609458
HP:0001510HP:0001510Growth delay0MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM17906826609458
HP:0001510HP:0001510Growth delay0MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM12146901600521
HP:0001510HP:0001510Growth delay0MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM12206901600521
HP:0001510HP:0001510Growth delay0MMUT CL E G H4594289916ORPHA16117526609058
HP:0001510HP:0001510Growth delay0MMUT CL E G H4594289916ORPHA16847526609058
HP:0001510HP:0001510Growth delay0MOCS1 CL E G H4337252150Molybdenum cofactor deficiency, complementation group A252150C1854988OMIM12687190603707
HP:0001510HP:0001510Growth delay0MOCS1 CL E G H4337252150Molybdenum cofactor deficiency, complementation group A252150C1854988OMIM13657190603707
HP:0001510HP:0001510Growth delay0MOCS2 CL E G H4338252160Molybdenum cofactor deficiency, complementation group B252160C1854989OMIM11587193603708
HP:0001510HP:0001510Growth delay0MOCS2 CL E G H4338252160Molybdenum cofactor deficiency, complementation group B252160C1854989OMIM12137193603708
HP:0001510HP:0001510Growth delay0MPLKIP CL E G H136647234050Trichothiodystrophy, nonphotosensitive 1234050C1961117OMIM16316002609188
HP:0001510HP:0001510Growth delay0MPLKIP CL E G H136647234050Trichothiodystrophy, nonphotosensitive 1234050C1961117OMIM19216002609188
HP:0001510HP:0001510Growth delay0MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM111614508605810
HP:0001510HP:0001510Growth delay0MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM113014508605810
HP:0001510HP:0001510Growth delay0MYMK CL E G H389827254940Congenital nonprogressive myopathy with Moebius and Robin sequences254940C1850746OMIM17733778615345
HP:0001510HP:0001510Growth delay0MYO5B CL E G H4645251850Congenital microvillous atrophy251850C0341306OMIM15857603606540
HP:0001510HP:0001510Growth delay0MYO5B CL E G H4645251850Congenital microvillous atrophy251850C0341306OMIM18237603606540
HP:0001510HP:0001510Growth delay0NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM133318704300013
HP:0001510HP:0001510Growth delay0NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM134818704300013
HP:0001510HP:0001510Growth delay0NDST1 CL E G H3340616116Mental retardation, autosomal recessive 46616116C4015283OMIM1987680600853
HP:0001510HP:0001510Growth delay0NDST1 CL E G H3340616116Mental retardation, autosomal recessive 46616116C4015283OMIM11087680600853
HP:0001510HP:0001510Growth delay0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM1977711602694
HP:0001510HP:0001510Growth delay0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11017711602694
HP:0001510HP:0001510Growth delay0NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM165029433300524
HP:0001510HP:0001510Growth delay0NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM173629433300524
HP:0001510HP:0001510Growth delay0NFE2L2 CL E G H4780617744IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA617744C4540293OMIM1707782600492
HP:0001510HP:0001510Growth delay0NFE2L2 CL E G H4780617744IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA617744C4540293OMIM11067782600492
HP:0001510HP:0001510Growth delay0NHEJ1 CL E G H79840169079ORPHA112725737611290
HP:0001510HP:0001510Growth delay0NHEJ1 CL E G H79840169079ORPHA116325737611290
HP:0001510HP:0001510Growth delay0NHP2 CL E G H55651613987Dyskeratosis congenita, autosomal recessive 2613987C3151441OMIM111314377606470
HP:0001510HP:0001510Growth delay0NHP2 CL E G H55651613987Dyskeratosis congenita, autosomal recessive 2613987C3151441OMIM113614377606470
HP:0001510HP:0001510Growth delay0NKX2-5 CL E G H1482225250Hypothyroidism, congenital, nongoitrous, 5225250C2673630OMIM12912488600584
HP:0001510HP:0001510Growth delay0NKX2-5 CL E G H1482225250Hypothyroidism, congenital, nongoitrous, 5225250C2673630OMIM13552488600584
HP:0001510HP:0001510Growth delay0NLRP1 CL E G H22861617388Autoinflammation with arthritis and dyskeratosis617388C4479278OMIM120214374606636
HP:0001510HP:0001510Growth delay0NLRP1 CL E G H22861617388Autoinflammation with arthritis and dyskeratosis617388C4479278OMIM138714374606636
HP:0001510HP:0001510Growth delay0NLRP3 CL E G H114548607115Chronic infantile neurological, cutaneous and articular syndrome607115C0409818OMIM160516400606416
HP:0001510HP:0001510Growth delay0NLRP3 CL E G H114548607115Chronic infantile neurological, cutaneous and articular syndrome607115C0409818OMIM167616400606416
HP:0001510HP:0001510Growth delay0NPHP1 CL E G H4867256100Nephronophthisis 1256100C1855681OMIM15327905607100
HP:0001510HP:0001510Growth delay0NPHP1 CL E G H4867256100Nephronophthisis 1256100C1855681OMIM16267905607100
HP:0001510HP:0001510Growth delay0NPHP4 CL E G H261734606966Nephronophthisis 4606966C1847013OMIM194919104607215
HP:0001510HP:0001510Growth delay0NPHP4 CL E G H261734606966Nephronophthisis 4606966C1847013OMIM1113119104607215
HP:0001510HP:0001510Growth delay0NPHS1 CL E G H4868256300Finnish congenital nephrotic syndrome256300C0403399OMIM18077908602716
HP:0001510HP:0001510Growth delay0NPHS1 CL E G H4868256300Finnish congenital nephrotic syndrome256300C0403399OMIM18857908602716
HP:0001510HP:0001510Growth delay0OFD1 CL E G H8481300804Joubert syndrome 10300804C2749019OMIM16472567300170
HP:0001510HP:0001510Growth delay0OFD1 CL E G H8481300804Joubert syndrome 10300804C2749019OMIM17232567300170
HP:0001510HP:0001510Growth delay0PAFAH1B1 CL E G H5048531Acute myeloblastic leukemia type 6ORPHA13038574601545
HP:0001510HP:0001510Growth delay0PAFAH1B1 CL E G H5048531Acute myeloblastic leukemia type 6ORPHA13688574601545
HP:0001510HP:0001510Growth delay0PAH CL E G H505379254ORPHA111648582612349
HP:0001510HP:0001510Growth delay0PAH CL E G H505379254ORPHA112158582612349
HP:0001510HP:0001510Growth delay0PAX6 CL E G H5080120200Congenital ocular coloboma120200C0009363OMIM15778620607108
HP:0001510HP:0001510Growth delay0PAX6 CL E G H5080120200Congenital ocular coloboma120200C0009363OMIM16328620607108
HP:0001510HP:0001510Growth delay0PAX8 CL E G H7849218700Thyroid dysgenesis218700C1563716OMIM11878622167415
HP:0001510HP:0001510Growth delay0PAX8 CL E G H7849218700Thyroid dysgenesis218700C1563716OMIM11918622167415
HP:0001510HP:0001510Growth delay0PEX19 CL E G H5824614886Peroxisome biogenesis disorder 12A614886C3554002OMIM11819713600279
HP:0001510HP:0001510Growth delay0PEX19 CL E G H5824614886Peroxisome biogenesis disorder 12A614886C3554002OMIM12499713600279
HP:0001510HP:0001510Growth delay0PHGDH CL E G H26227601815Phosphoglycerate dehydrogenase deficiency601815C1866174OMIM12818923606879
HP:0001510HP:0001510Growth delay0PHGDH CL E G H26227601815Phosphoglycerate dehydrogenase deficiency601815C1866174OMIM14078923606879
HP:0001510HP:0001510Growth delay0PHKA2 CL E G H5256306000Glycogen storage disease type IXa1306000C0017927OMIM14298926300798
HP:0001510HP:0001510Growth delay0PHKA2 CL E G H5256306000Glycogen storage disease type IXa1306000C0017927OMIM14658926300798
HP:0001510HP:0001510Growth delay0PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM11488931172471
HP:0001510HP:0001510Growth delay0PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM11568931172471
HP:0001510HP:0001510Growth delay0PIGH CL E G H5283618010GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17618010CN248527OMIM1168964600154
HP:0001510HP:0001510Growth delay0PIGH CL E G H5283618010GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17618010CN248527OMIM1178964600154
HP:0001510HP:0001510Growth delay0PIGO CL E G H84720614749Hyperphosphatasia with mental retardation syndrome 2614749C3553637OMIM163723215614730
HP:0001510HP:0001510Growth delay0PIGO CL E G H84720614749Hyperphosphatasia with mental retardation syndrome 2614749C3553637OMIM173223215614730
HP:0001510HP:0001510Growth delay0PIGP CL E G H51227617599Early infantile epileptic encephalopathy 55617599C4539843OMIM1763046605938
HP:0001510HP:0001510Growth delay0PIGP CL E G H51227617599Early infantile epileptic encephalopathy 55617599C4539843OMIM11173046605938
HP:0001510HP:0001510Growth delay0PIGY CL E G H84992616809Hyperphosphatasia with mental retardation syndrome 6616809C4225201OMIM13028213610662
HP:0001510HP:0001510Growth delay0PIGY CL E G H84992616809Hyperphosphatasia with mental retardation syndrome 6616809C4225201OMIM13428213610662
HP:0001510HP:0001510Growth delay0PNPT1 CL E G H87178614932Combined oxidative phosphorylation deficiency 13614932C3554129OMIM124123166610316
HP:0001510HP:0001510Growth delay0PNPT1 CL E G H87178614932Combined oxidative phosphorylation deficiency 13614932C3554129OMIM139823166610316
HP:0001510HP:0001510Growth delay0PPM1B CL E G H5495163693ORPHA1309276603770
HP:0001510HP:0001510Growth delay0PPM1B CL E G H5495163693ORPHA1319276603770
HP:0001510HP:0001510Growth delay0PREPL CL E G H9581163690ORPHA139530228609557
HP:0001510HP:0001510Growth delay0PREPL CL E G H9581163690ORPHA149530228609557
HP:0001510HP:0001510Growth delay0PREPL CL E G H9581163693ORPHA139530228609557
HP:0001510HP:0001510Growth delay0PREPL CL E G H9581163693ORPHA149530228609557
HP:0001510HP:0001510Growth delay0PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM13039462311850
HP:0001510HP:0001510Growth delay0PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM13219462311850
HP:0001510HP:0001510Growth delay0RAD51 CL E G H5888617244Fanconi anemia, complementation group R617244C4284093OMIM1729817179617
HP:0001510HP:0001510Growth delay0RAD51 CL E G H5888617244Fanconi anemia, complementation group R617244C4284093OMIM1819817179617
HP:0001510HP:0001510Growth delay0RBBP8 CL E G H5932606744Seckel syndrome 2606744C1847572OMIM11579891604124
HP:0001510HP:0001510Growth delay0RBBP8 CL E G H5932606744Seckel syndrome 2606744C1847572OMIM12119891604124
HP:0001510HP:0001510Growth delay0RBCK1 CL E G H10616615895Polyglucosan body myopathy 1 with or without immunodeficiency615895C4014605OMIM126315864610924
HP:0001510HP:0001510Growth delay0RBCK1 CL E G H10616615895Polyglucosan body myopathy 1 with or without immunodeficiency615895C4014605OMIM131215864610924
HP:0001510HP:0001510Growth delay0RECQL4 CL E G H9401221016ORPHA127519949603780
HP:0001510HP:0001510Growth delay0RECQL4 CL E G H9401221016ORPHA132749949603780
HP:0001510HP:0001510Growth delay0RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM118113429300379
HP:0001510HP:0001510Growth delay0RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM118513429300379
HP:0001510HP:0001510Growth delay0RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM179429168610937
HP:0001510HP:0001510Growth delay0RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM196429168610937
HP:0001510HP:0001510Growth delay0RPL5 CL E G H6125612561Aase syndrome612561C0265265OMIM113710360603634
HP:0001510HP:0001510Growth delay0RPL5 CL E G H6125612561Aase syndrome612561C0265265OMIM116410360603634
HP:0001510HP:0001510Growth delay0RPS10 CL E G H6204613308Diamond-Blackfan anemia 9613308C2750081OMIM18410383603632
HP:0001510HP:0001510Growth delay0RPS10 CL E G H6204613308Diamond-Blackfan anemia 9613308C2750081OMIM19510383603632
HP:0001510HP:0001510Growth delay0SAR1B CL E G H51128246700Chylomicron retention disease246700C0795956OMIM15810535607690
HP:0001510HP:0001510Growth delay0SAR1B CL E G H51128246700Chylomicron retention disease246700C0795956OMIM18210535607690
HP:0001510HP:0001510Growth delay0SAR1B CL E G H5112871Human granulocytic ehrlichiosisORPHA15810535607690
HP:0001510HP:0001510Growth delay0SAR1B CL E G H5112871Human granulocytic ehrlichiosisORPHA18210535607690
HP:0001510HP:0001510Growth delay0SH3PXD2B CL E G H285590249420Frank Ter Haar syndrome249420C1855305OMIM134129242613293
HP:0001510HP:0001510Growth delay0SH3PXD2B CL E G H285590249420Frank Ter Haar syndrome249420C1855305OMIM138529242613293
HP:0001510HP:0001510Growth delay0SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM116519353607776
HP:0001510HP:0001510Growth delay0SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM118519353607776
HP:0001510HP:0001510Growth delay0SLC10A2 CL E G H6555613291Bile acid malabsorption, primary613291C2750087OMIM116410906601295
HP:0001510HP:0001510Growth delay0SLC10A2 CL E G H6555613291Bile acid malabsorption, primary613291C2750087OMIM116910906601295
HP:0001510HP:0001510Growth delay0SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM128510933604322
HP:0001510HP:0001510Growth delay0SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM133510933604322
HP:0001510HP:0001510Growth delay0SLC25A13 CL E G H10165605814Neonatal intrahepatic cholestasis caused by citrin deficiency605814C1853942OMIM139310983603859
HP:0001510HP:0001510Growth delay0SLC25A13 CL E G H10165605814Neonatal intrahepatic cholestasis caused by citrin deficiency605814C1853942OMIM145110983603859
HP:0001510HP:0001510Growth delay0SLC26A3 CL E G H1811214700Congenital secretory diarrhea, chloride type214700C0267662OMIM11993018126650
HP:0001510HP:0001510Growth delay0SLC26A3 CL E G H1811214700Congenital secretory diarrhea, chloride type214700C0267662OMIM12833018126650
HP:0001510HP:0001510Growth delay0SLC34A3 CL E G H142680241530Autosomal recessive hypophosphatemic bone disease241530C1853271OMIM128820305609826
HP:0001510HP:0001510Growth delay0SLC34A3 CL E G H142680241530Autosomal recessive hypophosphatemic bone disease241530C1853271OMIM133820305609826
HP:0001510HP:0001510Growth delay0SLC3A1 CL E G H6519163690ORPHA126511025104614
HP:0001510HP:0001510Growth delay0SLC3A1 CL E G H6519163690ORPHA129511025104614
HP:0001510HP:0001510Growth delay0SLC3A1 CL E G H6519163693ORPHA126511025104614
HP:0001510HP:0001510Growth delay0SLC3A1 CL E G H6519163693ORPHA129511025104614
HP:0001510HP:0001510Growth delay0SLC4A4 CL E G H8671604278Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation604278C1970309OMIM122511030603345
HP:0001510HP:0001510Growth delay0SLC4A4 CL E G H8671604278Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation604278C1970309OMIM123111030603345
HP:0001510HP:0001510Growth delay0SLC5A5 CL E G H6528274400Thyroid dyshormonogenesis 1274400C1848805OMIM114711040601843
HP:0001510HP:0001510Growth delay0SLC5A5 CL E G H6528274400Thyroid dyshormonogenesis 1274400C1848805OMIM114911040601843
HP:0001510HP:0001510Growth delay0SMG9 CL E G H56006616920Heart and brain malformation syndrome616920C4310793OMIM13325763613176
HP:0001510HP:0001510Growth delay0SMG9 CL E G H56006616920Heart and brain malformation syndrome616920C4310793OMIM13425763613176
HP:0001510HP:0001510Growth delay0SMOC1 CL E G H64093206920Anophthalmos with limb anomalies206920C0599973OMIM18020318608488
HP:0001510HP:0001510Growth delay0SMOC1 CL E G H64093206920Anophthalmos with limb anomalies206920C0599973OMIM18120318608488
HP:0001510HP:0001510Growth delay0SNX10 CL E G H29887667ORPHA15614974614780
HP:0001510HP:0001510Growth delay0SNX10 CL E G H29887667ORPHA18914974614780
HP:0001510HP:0001510Growth delay0SOX11 CL E G H6664615866Mental retardation, autosomal dominant 27615866C4014528OMIM19311191600898
HP:0001510HP:0001510Growth delay0SOX11 CL E G H6664615866Mental retardation, autosomal dominant 27615866C4014528OMIM110911191600898
HP:0001510HP:0001510Growth delay0SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM112811257182125
HP:0001510HP:0001510Growth delay0SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM114511257182125
HP:0001510HP:0001510Growth delay0SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM116411449611224
HP:0001510HP:0001510Growth delay0SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM119011449611224
HP:0001510HP:0001510Growth delay0TAT CL E G H6898276600Tyrosinemia type 2276600C0268487OMIM121711573613018
HP:0001510HP:0001510Growth delay0TAT CL E G H6898276600Tyrosinemia type 2276600C0268487OMIM123511573613018
HP:0001510HP:0001510Growth delay0TAZ CL E G H69013020603-Methylglutaconic aciduria type 2302060C0574083OMIM111577300394
HP:0001510HP:0001510Growth delay0TBR1 CL E G H107161617ORPHA110311590604616
HP:0001510HP:0001510Growth delay0TBR1 CL E G H107161617ORPHA110511590604616
HP:0001510HP:0001510Growth delay0TCIRG1 CL E G H10312667ORPHA154411647604592
HP:0001510HP:0001510Growth delay0TCIRG1 CL E G H10312667ORPHA167411647604592
HP:0001510HP:0001510Growth delay0THRA CL E G H7067614450Hypothyroidism, congenital, nongoitrous, 6614450C3280817OMIM14411796190120
HP:0001510HP:0001510Growth delay0TMEM173 CL E G H340061615934Sting-associated vasculopathy, infantile-onset615934C4014722OMIM127962612374
HP:0001510HP:0001510Growth delay0TMEM237 CL E G H65062614424Joubert syndrome 14614424C3280766OMIM130114432614423
HP:0001510HP:0001510Growth delay0TMEM237 CL E G H65062614424Joubert syndrome 14614424C3280766OMIM135914432614423
HP:0001510HP:0001510Growth delay0TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM140228396609884
HP:0001510HP:0001510Growth delay0TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM156928396609884
HP:0001510HP:0001510Growth delay0TMEM67 CL E G H91147613550Nephronophthisis 11613550C3150796OMIM140228396609884
HP:0001510HP:0001510Growth delay0TMEM67 CL E G H91147613550Nephronophthisis 11613550C3150796OMIM156928396609884
HP:0001510HP:0001510Growth delay0TNFSF11 CL E G H8600667ORPHA112911926602642
HP:0001510HP:0001510Growth delay0TNFSF11 CL E G H8600667ORPHA116611926602642
HP:0001510HP:0001510Growth delay0TRHR CL E G H720199832ORPHA14912299188545
HP:0001510HP:0001510Growth delay0TSPYL1 CL E G H7259168593ORPHA13512382604714
HP:0001510HP:0001510Growth delay0TSPYL1 CL E G H7259168593ORPHA13712382604714
HP:0001510HP:0001510Growth delay0TSPYL1 CL E G H7259608800Sudden infant death with dysgenesis of the testes syndrome608800C1837371OMIM13512382604714
HP:0001510HP:0001510Growth delay0TSPYL1 CL E G H7259608800Sudden infant death with dysgenesis of the testes syndrome608800C1837371OMIM13712382604714
HP:0001510HP:0001510Growth delay0UBE3B CL E G H899102707ORPHA16913478608047
HP:0001510HP:0001510Growth delay0UBE3B CL E G H899102707ORPHA17713478608047
HP:0001510HP:0001510Growth delay0UFC1 CL E G H51506618076NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH618076CN252685OMIM12026941610554
HP:0001510HP:0001510Growth delay0UFC1 CL E G H51506618076NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH618076CN252685OMIM12226941610554
HP:0001510HP:0001510Growth delay0UQCC3 CL E G H790955616111Mitochondrial complex III deficiency, nuclear type 9616111C4015253OMIM12634399616097
HP:0001510HP:0001510Growth delay0UQCC3 CL E G H790955616111Mitochondrial complex III deficiency, nuclear type 9616111C4015253OMIM12734399616097
HP:0001510HP:0001510Growth delay0VDR CL E G H7421277440Vitamin D-dependent rickets, type 2277440C0342646OMIM123912679601769
HP:0001510HP:0001510Growth delay0VDR CL E G H7421277440Vitamin D-dependent rickets, type 2277440C0342646OMIM125612679601769
HP:0001510HP:0001510Growth delay0VPS11 CL E G H55823466934ORPHA17214583608549
HP:0001510HP:0001510Growth delay0VPS11 CL E G H55823466934ORPHA110514583608549
HP:0001510HP:0001510Growth delay0WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM192912762606201
HP:0001510HP:0001510Growth delay0WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM1112112762606201
HP:0001510HP:0001510Growth delay0WNT4 CL E G H54361139466ORPHA13512783603490
HP:0001510HP:0001510Growth delay0WNT4 CL E G H54361139466ORPHA14112783603490
HP:0001510HP:0001510Growth delay0XRCC2 CL E G H7516617247Fanconi anemia, complementation group U617247C4310651OMIM141312829600375
HP:0001510HP:0001510Growth delay0XRCC2 CL E G H7516617247Fanconi anemia, complementation group U617247C4310651OMIM144712829600375
HP:0001510HP:0001510Growth delay0XRCC4 CL E G H751899812ORPHA15412831194363
HP:0001510HP:0001510Growth delay0XRCC4 CL E G H751899812ORPHA16812831194363
HP:0001510HP:0001510Growth delay0YARS2 CL E G H51067613561Myopathy, lactic acidosis, and sideroblastic anemia 2613561C3150802OMIM124324249610957
HP:0001510HP:0001510Growth delay0YARS2 CL E G H51067613561Myopathy, lactic acidosis, and sideroblastic anemia 2613561C3150802OMIM129124249610957
HP:0001510HP:0001510Growth delay0YWHAE CL E G H7531531Acute myeloblastic leukemia type 6ORPHA116312851605066
HP:0001510HP:0001510Growth delay0YWHAE CL E G H7531531Acute myeloblastic leukemia type 6ORPHA117212851605066
HP:0001510HP:0001510Growth delay0ZBTB24 CL E G H9841614069Immunodeficiency-centromeric instability-facial anomalies syndrome 2614069C3279748OMIM117421143614064
HP:0001510HP:0001510Growth delay0ZBTB24 CL E G H9841614069Immunodeficiency-centromeric instability-facial anomalies syndrome 2614069C3279748OMIM121221143614064
HP:0001510HP:0000823Delayed puberty1ABCD4 CL E G H5826614857METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE614857C3553915OMIM125968603214
HP:0001510HP:0000823Delayed puberty1ABCD4 CL E G H5826614857METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE614857C3553915OMIM128568603214
HP:0001510HP:0004322Short stature1ABCD4 CL E G H5826614857METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE614857C3553915OMIM125968603214
HP:0001510HP:0004322Short stature1ABCD4 CL E G H5826614857METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE614857C3553915OMIM128568603214
HP:0001510HP:0031087Absent pubertal growth spurt1ABCD4 CL E G H5826614857METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE614857C3553915OMIM125968603214
HP:0001510HP:0031087Absent pubertal growth spurt1ABCD4 CL E G H5826614857METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE614857C3553915OMIM128568603214
HP:0001510HP:0001511Intrauterine growth retardation1ABCD4 CL E G H5826614857METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE614857C3553915OMIM125968603214
HP:0001510HP:0001511Intrauterine growth retardation1ABCD4 CL E G H5826614857METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE614857C3553915OMIM128568603214
HP:0001510HP:0008897Postnatal growth retardation1ABCD4 CL E G H5826614857METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE614857C3553915OMIM125968603214
HP:0001510HP:0008897Postnatal growth retardation1ABCD4 CL E G H5826614857METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE614857C3553915OMIM128568603214
HP:0001510HP:0000823Delayed puberty1ACACA CL E G H31613933Acetyl-CoA: carboxylase deficiency613933C0268603OMIM114184200350
HP:0001510HP:0000823Delayed puberty1ACACA CL E G H31613933Acetyl-CoA: carboxylase deficiency613933C0268603OMIM115384200350
HP:0001510HP:0004322Short stature1ACACA CL E G H31613933Acetyl-CoA: carboxylase deficiency613933C0268603OMIM114184200350
HP:0001510HP:0004322Short stature1ACACA CL E G H31613933Acetyl-CoA: carboxylase deficiency613933C0268603OMIM115384200350
HP:0001510HP:0031087Absent pubertal growth spurt1ACACA CL E G H31613933Acetyl-CoA: carboxylase deficiency613933C0268603OMIM114184200350
HP:0001510HP:0031087Absent pubertal growth spurt1ACACA CL E G H31613933Acetyl-CoA: carboxylase deficiency613933C0268603OMIM115384200350
HP:0001510HP:0001511Intrauterine growth retardation1ACACA CL E G H31613933Acetyl-CoA: carboxylase deficiency613933C0268603OMIM114184200350
HP:0001510HP:0001511Intrauterine growth retardation1ACACA CL E G H31613933Acetyl-CoA: carboxylase deficiency613933C0268603OMIM115384200350
HP:0001510HP:0008897Postnatal growth retardation1ACACA CL E G H31613933Acetyl-CoA: carboxylase deficiency613933C0268603OMIM114184200350
HP:0001510HP:0008897Postnatal growth retardation1ACACA CL E G H31613933Acetyl-CoA: carboxylase deficiency613933C0268603OMIM115384200350
HP:0001510HP:0000823Delayed puberty1ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA1322132102630
HP:0001510HP:0000823Delayed puberty1ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA1349132102630
HP:0001510HP:0004322Short stature1ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA1322132102630
HP:0001510HP:0004322Short stature1ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA1349132102630
HP:0001510HP:0031087Absent pubertal growth spurt1ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA1322132102630
HP:0001510HP:0031087Absent pubertal growth spurt1ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA1349132102630
HP:0001510HP:0001511Intrauterine growth retardation1ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA1322132102630
HP:0001510HP:0001511Intrauterine growth retardation1ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA1349132102630
HP:0001510HP:0008897Postnatal growth retardation1ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA1322132102630
HP:0001510HP:0008897Postnatal growth retardation1ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA1349132102630
HP:0001510HP:0000823Delayed puberty1ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA1347144102560
HP:0001510HP:0000823Delayed puberty1ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA1370144102560
HP:0001510HP:0004322Short stature1ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA1347144102560
HP:0001510HP:0004322Short stature1ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA1370144102560
HP:0001510HP:0031087Absent pubertal growth spurt1ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA1347144102560
HP:0001510HP:0031087Absent pubertal growth spurt1ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA1370144102560
HP:0001510HP:0001511Intrauterine growth retardation1ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA1347144102560
HP:0001510HP:0001511Intrauterine growth retardation1ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA1370144102560
HP:0001510HP:0008897Postnatal growth retardation1ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA1347144102560
HP:0001510HP:0008897Postnatal growth retardation1ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA1370144102560
HP:0001510HP:0000823Delayed puberty1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1368291608222
HP:0001510HP:0000823Delayed puberty1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1582291608222
HP:0001510HP:0004322Short stature1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1368291608222
HP:0001510HP:0004322Short stature1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1582291608222
HP:0001510HP:0031087Absent pubertal growth spurt1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1368291608222
HP:0001510HP:0031087Absent pubertal growth spurt1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1582291608222
HP:0001510HP:0001511Intrauterine growth retardation1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1368291608222
HP:0001510HP:0001511Intrauterine growth retardation1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1582291608222
HP:0001510HP:0008897Postnatal growth retardation1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1368291608222
HP:0001510HP:0008897Postnatal growth retardation1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1582291608222
HP:0001510HP:0000823Delayed puberty1AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM122021869610345
HP:0001510HP:0000823Delayed puberty1AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM123621869610345
HP:0001510HP:0004322Short stature1AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM122021869610345
HP:0001510HP:0004322Short stature1AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM123621869610345
HP:0001510HP:0031087Absent pubertal growth spurt1AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM122021869610345
HP:0001510HP:0031087Absent pubertal growth spurt1AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM123621869610345
HP:0001510HP:0001511Intrauterine growth retardation1AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM122021869610345
HP:0001510HP:0001511Intrauterine growth retardation1AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM123621869610345
HP:0001510HP:0008897Postnatal growth retardation1AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM122021869610345
HP:0001510HP:0008897Postnatal growth retardation1AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM123621869610345
HP:0001510HP:0000823Delayed puberty1AHCY CL E G H19188618ORPHA1113343180960
HP:0001510HP:0000823Delayed puberty1AHCY CL E G H19188618ORPHA1126343180960
HP:0001510HP:0004322Short stature1AHCY CL E G H19188618ORPHA1113343180960
HP:0001510HP:0004322Short stature1AHCY CL E G H19188618ORPHA1126343180960
HP:0001510HP:0031087Absent pubertal growth spurt1AHCY CL E G H19188618ORPHA1113343180960
HP:0001510HP:0031087Absent pubertal growth spurt1AHCY CL E G H19188618ORPHA1126343180960
HP:0001510HP:0001511Intrauterine growth retardation1AHCY CL E G H19188618ORPHA1113343180960
HP:0001510HP:0001511Intrauterine growth retardation1AHCY CL E G H19188618ORPHA1126343180960
HP:0001510HP:0008897Postnatal growth retardation1AHCY CL E G H19188618ORPHA1113343180960
HP:0001510HP:0008897Postnatal growth retardation1AHCY CL E G H19188618ORPHA1126343180960
HP:0001510HP:0000823Delayed puberty1ALOX12B CL E G H242242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM1285430603741
HP:0001510HP:0000823Delayed puberty1ALOX12B CL E G H242242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM1291430603741
HP:0001510HP:0004322Short stature1ALOX12B CL E G H242242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM1285430603741
HP:0001510HP:0004322Short stature1ALOX12B CL E G H242242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM1291430603741
HP:0001510HP:0031087Absent pubertal growth spurt1ALOX12B CL E G H242242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM1285430603741
HP:0001510HP:0031087Absent pubertal growth spurt1ALOX12B CL E G H242242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM1291430603741
HP:0001510HP:0001511Intrauterine growth retardation1ALOX12B CL E G H242242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM1285430603741
HP:0001510HP:0001511Intrauterine growth retardation1ALOX12B CL E G H242242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM1291430603741
HP:0001510HP:0008897Postnatal growth retardation1ALOX12B CL E G H242242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM1285430603741
HP:0001510HP:0008897Postnatal growth retardation1ALOX12B CL E G H242242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM1291430603741
HP:0001510HP:0000823Delayed puberty1ALOXE3 CL E G H59344242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM120213743607206
HP:0001510HP:0000823Delayed puberty1ALOXE3 CL E G H59344242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM120913743607206
HP:0001510HP:0004322Short stature1ALOXE3 CL E G H59344242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM120213743607206
HP:0001510HP:0004322Short stature1ALOXE3 CL E G H59344242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM120913743607206
HP:0001510HP:0031087Absent pubertal growth spurt1ALOXE3 CL E G H59344242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM120213743607206
HP:0001510HP:0031087Absent pubertal growth spurt1ALOXE3 CL E G H59344242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM120913743607206
HP:0001510HP:0001511Intrauterine growth retardation1ALOXE3 CL E G H59344242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM120213743607206
HP:0001510HP:0001511Intrauterine growth retardation1ALOXE3 CL E G H59344242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM120913743607206
HP:0001510HP:0008897Postnatal growth retardation1ALOXE3 CL E G H59344242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM120213743607206
HP:0001510HP:0008897Postnatal growth retardation1ALOXE3 CL E G H59344242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM120913743607206
HP:0001510HP:0000823Delayed puberty1ANTXR1 CL E G H84168230740Odontotrichomelic syndrome230740C0406723OMIM18321014606410
HP:0001510HP:0000823Delayed puberty1ANTXR1 CL E G H84168230740Odontotrichomelic syndrome230740C0406723OMIM18421014606410
HP:0001510HP:0004322Short stature1ANTXR1 CL E G H84168230740Odontotrichomelic syndrome230740C0406723OMIM18321014606410
HP:0001510HP:0004322Short stature1ANTXR1 CL E G H84168230740Odontotrichomelic syndrome230740C0406723OMIM18421014606410
HP:0001510HP:0031087Absent pubertal growth spurt1ANTXR1 CL E G H84168230740Odontotrichomelic syndrome230740C0406723OMIM18321014606410
HP:0001510HP:0031087Absent pubertal growth spurt1ANTXR1 CL E G H84168230740Odontotrichomelic syndrome230740C0406723OMIM18421014606410
HP:0001510HP:0001511Intrauterine growth retardation1ANTXR1 CL E G H84168230740Odontotrichomelic syndrome230740C0406723OMIM18321014606410
HP:0001510HP:0001511Intrauterine growth retardation1ANTXR1 CL E G H84168230740Odontotrichomelic syndrome230740C0406723OMIM18421014606410
HP:0001510HP:0008897Postnatal growth retardation1ANTXR1 CL E G H84168230740Odontotrichomelic syndrome230740C0406723OMIM18321014606410
HP:0001510HP:0008897Postnatal growth retardation1ANTXR1 CL E G H84168230740Odontotrichomelic syndrome230740C0406723OMIM18421014606410
HP:0001510HP:0000823Delayed puberty1AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM153559603531
HP:0001510HP:0000823Delayed puberty1AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM155559603531
HP:0001510HP:0004322Short stature1AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM153559603531
HP:0001510HP:0004322Short stature1AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM155559603531
HP:0001510HP:0031087Absent pubertal growth spurt1AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM153559603531
HP:0001510HP:0031087Absent pubertal growth spurt1AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM155559603531
HP:0001510HP:0001511Intrauterine growth retardation1AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM153559603531
HP:0001510HP:0001511Intrauterine growth retardation1AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM155559603531
HP:0001510HP:0008897Postnatal growth retardation1AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM153559603531
HP:0001510HP:0008897Postnatal growth retardation1AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM155559603531
HP:0001510HP:0000823Delayed puberty1ATP6V0A4 CL E G H50617602722Renal tubular acidosis, distal, autosomal recessive602722C1864498OMIM1298866605239
HP:0001510HP:0000823Delayed puberty1ATP6V0A4 CL E G H50617602722Renal tubular acidosis, distal, autosomal recessive602722C1864498OMIM1320866605239
HP:0001510HP:0004322Short stature1ATP6V0A4 CL E G H50617602722Renal tubular acidosis, distal, autosomal recessive602722C1864498OMIM1298866605239
HP:0001510HP:0004322Short stature1ATP6V0A4 CL E G H50617602722Renal tubular acidosis, distal, autosomal recessive602722C1864498OMIM1320866605239
HP:0001510HP:0031087Absent pubertal growth spurt1ATP6V0A4 CL E G H50617602722Renal tubular acidosis, distal, autosomal recessive602722C1864498OMIM1298866605239
HP:0001510HP:0031087Absent pubertal growth spurt1ATP6V0A4 CL E G H50617602722Renal tubular acidosis, distal, autosomal recessive602722C1864498OMIM1320866605239
HP:0001510HP:0001511Intrauterine growth retardation1ATP6V0A4 CL E G H50617602722Renal tubular acidosis, distal, autosomal recessive602722C1864498OMIM1298866605239
HP:0001510HP:0001511Intrauterine growth retardation1ATP6V0A4 CL E G H50617602722Renal tubular acidosis, distal, autosomal recessive602722C1864498OMIM1320866605239
HP:0001510HP:0008897Postnatal growth retardation1ATP6V0A4 CL E G H50617602722Renal tubular acidosis, distal, autosomal recessive602722C1864498OMIM1298866605239
HP:0001510HP:0008897Postnatal growth retardation1ATP6V0A4 CL E G H50617602722Renal tubular acidosis, distal, autosomal recessive602722C1864498OMIM1320866605239
HP:0001510HP:0000823Delayed puberty1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11103886300032
HP:0001510HP:0000823Delayed puberty1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11217886300032
HP:0001510HP:0004322Short stature1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11103886300032
HP:0001510HP:0004322Short stature1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11217886300032
HP:0001510HP:0031087Absent pubertal growth spurt1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11103886300032
HP:0001510HP:0031087Absent pubertal growth spurt1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11217886300032
HP:0001510HP:0001511Intrauterine growth retardation1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11103886300032
HP:0001510HP:0001511Intrauterine growth retardation1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11217886300032
HP:0001510HP:0008897Postnatal growth retardation1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11103886300032
HP:0001510HP:0008897Postnatal growth retardation1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11217886300032
HP:0001510HP:0000823Delayed puberty1AVP CL E G H55130925ORPHA176894192340
HP:0001510HP:0004322Short stature1AVP CL E G H55130925ORPHA176894192340
HP:0001510HP:0031087Absent pubertal growth spurt1AVP CL E G H55130925ORPHA176894192340
HP:0001510HP:0001511Intrauterine growth retardation1AVP CL E G H55130925ORPHA176894192340
HP:0001510HP:0008897Postnatal growth retardation1AVP CL E G H55130925ORPHA176894192340
HP:0001510HP:0000823Delayed puberty1BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM150220893300485
HP:0001510HP:0000823Delayed puberty1BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM153620893300485
HP:0001510HP:0004322Short stature1BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM150220893300485
HP:0001510HP:0004322Short stature1BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM153620893300485
HP:0001510HP:0031087Absent pubertal growth spurt1BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM150220893300485
HP:0001510HP:0031087Absent pubertal growth spurt1BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM153620893300485
HP:0001510HP:0001511Intrauterine growth retardation1BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM150220893300485
HP:0001510HP:0001511Intrauterine growth retardation1BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM153620893300485
HP:0001510HP:0008897Postnatal growth retardation1BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM150220893300485
HP:0001510HP:0008897Postnatal growth retardation1BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM153620893300485
HP:0001510HP:0000823Delayed puberty1CAMKMT CL E G H79823163693ORPHA13226276609559
HP:0001510HP:0000823Delayed puberty1CAMKMT CL E G H79823163693ORPHA13326276609559
HP:0001510HP:0004322Short stature1CAMKMT CL E G H79823163693ORPHA13226276609559
HP:0001510HP:0004322Short stature1CAMKMT CL E G H79823163693ORPHA13326276609559
HP:0001510HP:0031087Absent pubertal growth spurt1CAMKMT CL E G H79823163693ORPHA13226276609559
HP:0001510HP:0031087Absent pubertal growth spurt1CAMKMT CL E G H79823163693ORPHA13326276609559
HP:0001510HP:0001511Intrauterine growth retardation1CAMKMT CL E G H79823163693ORPHA13226276609559
HP:0001510HP:0001511Intrauterine growth retardation1CAMKMT CL E G H79823163693ORPHA13326276609559
HP:0001510HP:0008897Postnatal growth retardation1CAMKMT CL E G H79823163693ORPHA13226276609559
HP:0001510HP:0008897Postnatal growth retardation1CAMKMT CL E G H79823163693ORPHA13326276609559
HP:0001510HP:0000823Delayed puberty1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM188129253612013
HP:0001510HP:0000823Delayed puberty1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1106429253612013
HP:0001510HP:0004322Short stature1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM188129253612013
HP:0001510HP:0004322Short stature1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1106429253612013
HP:0001510HP:0031087Absent pubertal growth spurt1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM188129253612013
HP:0001510HP:0031087Absent pubertal growth spurt1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1106429253612013
HP:0001510HP:0001511Intrauterine growth retardation1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM188129253612013
HP:0001510HP:0001511Intrauterine growth retardation1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1106429253612013
HP:0001510HP:0008897Postnatal growth retardation1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM188129253612013
HP:0001510HP:0008897Postnatal growth retardation1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1106429253612013
HP:0001510HP:0000823Delayed puberty1CD55 CL E G H1604226300Protein-losing enteropathy226300C0033680OMIM1492665125240
HP:0001510HP:0000823Delayed puberty1CD55 CL E G H1604226300Protein-losing enteropathy226300C0033680OMIM1982665125240
HP:0001510HP:0004322Short stature1CD55 CL E G H1604226300Protein-losing enteropathy226300C0033680OMIM1492665125240
HP:0001510HP:0004322Short stature1CD55 CL E G H1604226300Protein-losing enteropathy226300C0033680OMIM1982665125240
HP:0001510HP:0031087Absent pubertal growth spurt1CD55 CL E G H1604226300Protein-losing enteropathy226300C0033680OMIM1492665125240
HP:0001510HP:0031087Absent pubertal growth spurt1CD55 CL E G H1604226300Protein-losing enteropathy226300C0033680OMIM1982665125240
HP:0001510HP:0001511Intrauterine growth retardation1CD55 CL E G H1604226300Protein-losing enteropathy226300C0033680OMIM1492665125240
HP:0001510HP:0001511Intrauterine growth retardation1CD55 CL E G H1604226300Protein-losing enteropathy226300C0033680OMIM1982665125240
HP:0001510HP:0008897Postnatal growth retardation1CD55 CL E G H1604226300Protein-losing enteropathy226300C0033680OMIM1492665125240
HP:0001510HP:0008897Postnatal growth retardation1CD55 CL E G H1604226300Protein-losing enteropathy226300C0033680OMIM1982665125240
HP:0001510HP:0000823Delayed puberty1CLCN7 CL E G H1186667ORPHA13882025602727
HP:0001510HP:0000823Delayed puberty1CLCN7 CL E G H1186667ORPHA15492025602727
HP:0001510HP:0004322Short stature1CLCN7 CL E G H1186667ORPHA13882025602727
HP:0001510HP:0004322Short stature1CLCN7 CL E G H1186667ORPHA15492025602727
HP:0001510HP:0031087Absent pubertal growth spurt1CLCN7 CL E G H1186667ORPHA13882025602727
HP:0001510HP:0031087Absent pubertal growth spurt1CLCN7 CL E G H1186667ORPHA15492025602727
HP:0001510HP:0001511Intrauterine growth retardation1CLCN7 CL E G H1186667ORPHA13882025602727
HP:0001510HP:0001511Intrauterine growth retardation1CLCN7 CL E G H1186667ORPHA15492025602727
HP:0001510HP:0008897Postnatal growth retardation1CLCN7 CL E G H1186667ORPHA13882025602727
HP:0001510HP:0008897Postnatal growth retardation1CLCN7 CL E G H1186667ORPHA15492025602727
HP:0001510HP:0000823Delayed puberty1CLP1 CL E G H10978411493ORPHA14016999608757
HP:0001510HP:0000823Delayed puberty1CLP1 CL E G H10978411493ORPHA14916999608757
HP:0001510HP:0004322Short stature1CLP1 CL E G H10978411493ORPHA14016999608757
HP:0001510HP:0004322Short stature1CLP1 CL E G H10978411493ORPHA14916999608757
HP:0001510HP:0031087Absent pubertal growth spurt1CLP1 CL E G H10978411493ORPHA14016999608757
HP:0001510HP:0031087Absent pubertal growth spurt1CLP1 CL E G H10978411493ORPHA14916999608757
HP:0001510HP:0001511Intrauterine growth retardation1CLP1 CL E G H10978411493ORPHA14016999608757
HP:0001510HP:0001511Intrauterine growth retardation1CLP1 CL E G H10978411493ORPHA14916999608757
HP:0001510HP:0008897Postnatal growth retardation1CLP1 CL E G H10978411493ORPHA14016999608757
HP:0001510HP:0008897Postnatal growth retardation1CLP1 CL E G H10978411493ORPHA14916999608757
HP:0001510HP:0000823Delayed puberty1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM14016999608757
HP:0001510HP:0000823Delayed puberty1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM14916999608757
HP:0001510HP:0004322Short stature1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM14016999608757
HP:0001510HP:0004322Short stature1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM14916999608757
HP:0001510HP:0031087Absent pubertal growth spurt1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM14016999608757
HP:0001510HP:0031087Absent pubertal growth spurt1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM14916999608757
HP:0001510HP:0001511Intrauterine growth retardation1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM14016999608757
HP:0001510HP:0001511Intrauterine growth retardation1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM14916999608757
HP:0001510HP:0008897Postnatal growth retardation1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM14016999608757
HP:0001510HP:0008897Postnatal growth retardation1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM14916999608757
HP:0001510HP:0000823Delayed puberty1CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM133730664616254
HP:0001510HP:0000823Delayed puberty1CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM140430664616254
HP:0001510HP:0004322Short stature1CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM133730664616254
HP:0001510HP:0004322Short stature1CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM140430664616254
HP:0001510HP:0031087Absent pubertal growth spurt1CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM133730664616254
HP:0001510HP:0031087Absent pubertal growth spurt1CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM140430664616254
HP:0001510HP:0001511Intrauterine growth retardation1CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM133730664616254
HP:0001510HP:0001511Intrauterine growth retardation1CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM140430664616254
HP:0001510HP:0008897Postnatal growth retardation1CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM133730664616254
HP:0001510HP:0008897Postnatal growth retardation1CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM140430664616254
HP:0001510HP:0000823Delayed puberty1COG4 CL E G H25839263501ORPHA122118620606976
HP:0001510HP:0000823Delayed puberty1COG4 CL E G H25839263501ORPHA124718620606976
HP:0001510HP:0004322Short stature1COG4 CL E G H25839263501ORPHA122118620606976
HP:0001510HP:0004322Short stature1COG4 CL E G H25839263501ORPHA124718620606976
HP:0001510HP:0031087Absent pubertal growth spurt1COG4 CL E G H25839263501ORPHA122118620606976
HP:0001510HP:0031087Absent pubertal growth spurt1COG4 CL E G H25839263501ORPHA124718620606976
HP:0001510HP:0001511Intrauterine growth retardation1COG4 CL E G H25839263501ORPHA122118620606976
HP:0001510HP:0001511Intrauterine growth retardation1COG4 CL E G H25839263501ORPHA124718620606976
HP:0001510HP:0008897Postnatal growth retardation1COG4 CL E G H25839263501ORPHA122118620606976
HP:0001510HP:0008897Postnatal growth retardation1COG4 CL E G H25839263501ORPHA124718620606976
HP:0001510HP:0000823Delayed puberty1COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM116582214120120
HP:0001510HP:0000823Delayed puberty1COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM120282214120120
HP:0001510HP:0004322Short stature1COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM116582214120120
HP:0001510HP:0004322Short stature1COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM120282214120120
HP:0001510HP:0031087Absent pubertal growth spurt1COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM116582214120120
HP:0001510HP:0031087Absent pubertal growth spurt1COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM120282214120120
HP:0001510HP:0001511Intrauterine growth retardation1COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM116582214120120
HP:0001510HP:0001511Intrauterine growth retardation1COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM120282214120120
HP:0001510HP:0008897Postnatal growth retardation1COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM116582214120120
HP:0001510HP:0008897Postnatal growth retardation1COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM120282214120120
HP:0001510HP:0000823Delayed puberty1COLEC10 CL E G H10584248340Malpuech facial clefting syndrome248340C0796032OMIM1542220607620
HP:0001510HP:0000823Delayed puberty1COLEC10 CL E G H10584248340Malpuech facial clefting syndrome248340C0796032OMIM1552220607620
HP:0001510HP:0004322Short stature1COLEC10 CL E G H10584248340Malpuech facial clefting syndrome248340C0796032OMIM1542220607620
HP:0001510HP:0004322Short stature1COLEC10 CL E G H10584248340Malpuech facial clefting syndrome248340C0796032OMIM1552220607620
HP:0001510HP:0031087Absent pubertal growth spurt1COLEC10 CL E G H10584248340Malpuech facial clefting syndrome248340C0796032OMIM1542220607620
HP:0001510HP:0031087Absent pubertal growth spurt1COLEC10 CL E G H10584248340Malpuech facial clefting syndrome248340C0796032OMIM1552220607620
HP:0001510HP:0001511Intrauterine growth retardation1COLEC10 CL E G H10584248340Malpuech facial clefting syndrome248340C0796032OMIM1542220607620
HP:0001510HP:0001511Intrauterine growth retardation1COLEC10 CL E G H10584248340Malpuech facial clefting syndrome248340C0796032OMIM1552220607620
HP:0001510HP:0008897Postnatal growth retardation1COLEC10 CL E G H10584248340Malpuech facial clefting syndrome248340C0796032OMIM1542220607620
HP:0001510HP:0008897Postnatal growth retardation1COLEC10 CL E G H10584248340Malpuech facial clefting syndrome248340C0796032OMIM1552220607620
HP:0001510HP:0000823Delayed puberty1CTNS CL E G H1497411629ORPHA15502518606272
HP:0001510HP:0000823Delayed puberty1CTNS CL E G H1497411629ORPHA15912518606272
HP:0001510HP:0004322Short stature1CTNS CL E G H1497411629ORPHA15502518606272
HP:0001510HP:0004322Short stature1CTNS CL E G H1497411629ORPHA15912518606272
HP:0001510HP:0031087Absent pubertal growth spurt1CTNS CL E G H1497411629ORPHA15502518606272
HP:0001510HP:0031087Absent pubertal growth spurt1CTNS CL E G H1497411629ORPHA15912518606272
HP:0001510HP:0001511Intrauterine growth retardation1CTNS CL E G H1497411629ORPHA15502518606272
HP:0001510HP:0001511Intrauterine growth retardation1CTNS CL E G H1497411629ORPHA15912518606272
HP:0001510HP:0008897Postnatal growth retardation1CTNS CL E G H1497411629ORPHA15502518606272
HP:0001510HP:0008897Postnatal growth retardation1CTNS CL E G H1497411629ORPHA15912518606272
HP:0001510HP:0000823Delayed puberty1CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM11342873613213
HP:0001510HP:0000823Delayed puberty1CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM11442873613213
HP:0001510HP:0004322Short stature1CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM11342873613213
HP:0001510HP:0004322Short stature1CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM11442873613213
HP:0001510HP:0031087Absent pubertal growth spurt1CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM11342873613213
HP:0001510HP:0031087Absent pubertal growth spurt1CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM11442873613213
HP:0001510HP:0001511Intrauterine growth retardation1CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM11342873613213
HP:0001510HP:0001511Intrauterine growth retardation1CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM11442873613213
HP:0001510HP:0008897Postnatal growth retardation1CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM11342873613213
HP:0001510HP:0008897Postnatal growth retardation1CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM11442873613213
HP:0001510HP:0000823Delayed puberty1CYP11B2 CL E G H1585203400Corticosterone methyloxidase type 1 deficiency203400CN074214OMIM13552592124080
HP:0001510HP:0000823Delayed puberty1CYP11B2 CL E G H1585203400Corticosterone methyloxidase type 1 deficiency203400CN074214OMIM13742592124080
HP:0001510HP:0004322Short stature1CYP11B2 CL E G H1585203400Corticosterone methyloxidase type 1 deficiency203400CN074214OMIM13552592124080
HP:0001510HP:0004322Short stature1CYP11B2 CL E G H1585203400Corticosterone methyloxidase type 1 deficiency203400CN074214OMIM13742592124080
HP:0001510HP:0031087Absent pubertal growth spurt1CYP11B2 CL E G H1585203400Corticosterone methyloxidase type 1 deficiency203400CN074214OMIM13552592124080
HP:0001510HP:0031087Absent pubertal growth spurt1CYP11B2 CL E G H1585203400Corticosterone methyloxidase type 1 deficiency203400CN074214OMIM13742592124080
HP:0001510HP:0001511Intrauterine growth retardation1CYP11B2 CL E G H1585203400Corticosterone methyloxidase type 1 deficiency203400CN074214OMIM13552592124080
HP:0001510HP:0001511Intrauterine growth retardation1CYP11B2 CL E G H1585203400Corticosterone methyloxidase type 1 deficiency203400CN074214OMIM13742592124080
HP:0001510HP:0008897Postnatal growth retardation1CYP11B2 CL E G H1585203400Corticosterone methyloxidase type 1 deficiency203400CN074214OMIM13552592124080
HP:0001510HP:0008897Postnatal growth retardation1CYP11B2 CL E G H1585203400Corticosterone methyloxidase type 1 deficiency203400CN074214OMIM13742592124080
HP:0001510HP:0000823Delayed puberty1CYP11B2 CL E G H1585610600Corticosterone methyloxidase type 2 deficiency610600C3463917OMIM13552592124080
HP:0001510HP:0000823Delayed puberty1CYP11B2 CL E G H1585610600Corticosterone methyloxidase type 2 deficiency610600C3463917OMIM13742592124080
HP:0001510HP:0004322Short stature1CYP11B2 CL E G H1585610600Corticosterone methyloxidase type 2 deficiency610600C3463917OMIM13552592124080
HP:0001510HP:0004322Short stature1CYP11B2 CL E G H1585610600Corticosterone methyloxidase type 2 deficiency610600C3463917OMIM13742592124080
HP:0001510HP:0031087Absent pubertal growth spurt1CYP11B2 CL E G H1585610600Corticosterone methyloxidase type 2 deficiency610600C3463917OMIM13552592124080
HP:0001510HP:0031087Absent pubertal growth spurt1CYP11B2 CL E G H1585610600Corticosterone methyloxidase type 2 deficiency610600C3463917OMIM13742592124080
HP:0001510HP:0001511Intrauterine growth retardation1CYP11B2 CL E G H1585610600Corticosterone methyloxidase type 2 deficiency610600C3463917OMIM13552592124080
HP:0001510HP:0001511Intrauterine growth retardation1CYP11B2 CL E G H1585610600Corticosterone methyloxidase type 2 deficiency610600C3463917OMIM13742592124080
HP:0001510HP:0008897Postnatal growth retardation1CYP11B2 CL E G H1585610600Corticosterone methyloxidase type 2 deficiency610600C3463917OMIM13552592124080
HP:0001510HP:0008897Postnatal growth retardation1CYP11B2 CL E G H1585610600Corticosterone methyloxidase type 2 deficiency610600C3463917OMIM13742592124080
HP:0001510HP:0000823Delayed puberty1CYP19A1 CL E G H158891Malignant melanoma, childhoodORPHA12722594107910
HP:0001510HP:0000823Delayed puberty1CYP19A1 CL E G H158891Malignant melanoma, childhoodORPHA12882594107910
HP:0001510HP:0004322Short stature1CYP19A1 CL E G H158891Malignant melanoma, childhoodORPHA12722594107910
HP:0001510HP:0004322Short stature1CYP19A1 CL E G H158891Malignant melanoma, childhoodORPHA12882594107910
HP:0001510HP:0031087Absent pubertal growth spurt1CYP19A1 CL E G H158891Malignant melanoma, childhoodORPHA12722594107910
HP:0001510HP:0031087Absent pubertal growth spurt1CYP19A1 CL E G H158891Malignant melanoma, childhoodORPHA12882594107910
HP:0001510HP:0001511Intrauterine growth retardation1CYP19A1 CL E G H158891Malignant melanoma, childhoodORPHA12722594107910
HP:0001510HP:0001511Intrauterine growth retardation1CYP19A1 CL E G H158891Malignant melanoma, childhoodORPHA12882594107910
HP:0001510HP:0008897Postnatal growth retardation1CYP19A1 CL E G H158891Malignant melanoma, childhoodORPHA12722594107910
HP:0001510HP:0008897Postnatal growth retardation1CYP19A1 CL E G H158891Malignant melanoma, childhoodORPHA12882594107910
HP:0001510HP:0000823Delayed puberty1CYP27B1 CL E G H1594264700Vitamin D-dependent rickets, type 1264700C0268689OMIM11182606609506
HP:0001510HP:0000823Delayed puberty1CYP27B1 CL E G H1594264700Vitamin D-dependent rickets, type 1264700C0268689OMIM11362606609506
HP:0001510HP:0004322Short stature1CYP27B1 CL E G H1594264700Vitamin D-dependent rickets, type 1264700C0268689OMIM11182606609506
HP:0001510HP:0004322Short stature1CYP27B1 CL E G H1594264700Vitamin D-dependent rickets, type 1264700C0268689OMIM11362606609506
HP:0001510HP:0031087Absent pubertal growth spurt1CYP27B1 CL E G H1594264700Vitamin D-dependent rickets, type 1264700C0268689OMIM11182606609506
HP:0001510HP:0031087Absent pubertal growth spurt1CYP27B1 CL E G H1594264700Vitamin D-dependent rickets, type 1264700C0268689OMIM11362606609506
HP:0001510HP:0001511Intrauterine growth retardation1CYP27B1 CL E G H1594264700Vitamin D-dependent rickets, type 1264700C0268689OMIM11182606609506
HP:0001510HP:0001511Intrauterine growth retardation1CYP27B1 CL E G H1594264700Vitamin D-dependent rickets, type 1264700C0268689OMIM11362606609506
HP:0001510HP:0008897Postnatal growth retardation1CYP27B1 CL E G H1594264700Vitamin D-dependent rickets, type 1264700C0268689OMIM11182606609506
HP:0001510HP:0008897Postnatal growth retardation1CYP27B1 CL E G H1594264700Vitamin D-dependent rickets, type 1264700C0268689OMIM11362606609506
HP:0001510HP:0000823Delayed puberty1CYP2R1 CL E G H120227600081Vitamin d hydroxylation-deficient rickets, type 1b600081C1838657OMIM16320580608713
HP:0001510HP:0000823Delayed puberty1CYP2R1 CL E G H120227600081Vitamin d hydroxylation-deficient rickets, type 1b600081C1838657OMIM17420580608713
HP:0001510HP:0004322Short stature1CYP2R1 CL E G H120227600081Vitamin d hydroxylation-deficient rickets, type 1b600081C1838657OMIM16320580608713
HP:0001510HP:0004322Short stature1CYP2R1 CL E G H120227600081Vitamin d hydroxylation-deficient rickets, type 1b600081C1838657OMIM17420580608713
HP:0001510HP:0031087Absent pubertal growth spurt1CYP2R1 CL E G H120227600081Vitamin d hydroxylation-deficient rickets, type 1b600081C1838657OMIM16320580608713
HP:0001510HP:0031087Absent pubertal growth spurt1CYP2R1 CL E G H120227600081Vitamin d hydroxylation-deficient rickets, type 1b600081C1838657OMIM17420580608713
HP:0001510HP:0001511Intrauterine growth retardation1CYP2R1 CL E G H120227600081Vitamin d hydroxylation-deficient rickets, type 1b600081C1838657OMIM16320580608713
HP:0001510HP:0001511Intrauterine growth retardation1CYP2R1 CL E G H120227600081Vitamin d hydroxylation-deficient rickets, type 1b600081C1838657OMIM17420580608713
HP:0001510HP:0008897Postnatal growth retardation1CYP2R1 CL E G H120227600081Vitamin d hydroxylation-deficient rickets, type 1b600081C1838657OMIM16320580608713
HP:0001510HP:0008897Postnatal growth retardation1CYP2R1 CL E G H120227600081Vitamin d hydroxylation-deficient rickets, type 1b600081C1838657OMIM17420580608713
HP:0001510HP:0000823Delayed puberty1DCHS1 CL E G H8642601390601390601390OMIM134713681603057
HP:0001510HP:0000823Delayed puberty1DCHS1 CL E G H8642601390601390601390OMIM150213681603057
HP:0001510HP:0004322Short stature1DCHS1 CL E G H8642601390601390601390OMIM134713681603057
HP:0001510HP:0004322Short stature1DCHS1 CL E G H8642601390601390601390OMIM150213681603057
HP:0001510HP:0031087Absent pubertal growth spurt1DCHS1 CL E G H8642601390601390601390OMIM134713681603057
HP:0001510HP:0031087Absent pubertal growth spurt1DCHS1 CL E G H8642601390601390601390OMIM150213681603057
HP:0001510HP:0001511Intrauterine growth retardation1DCHS1 CL E G H8642601390601390601390OMIM134713681603057
HP:0001510HP:0001511Intrauterine growth retardation1DCHS1 CL E G H8642601390601390601390OMIM150213681603057
HP:0001510HP:0008897Postnatal growth retardation1DCHS1 CL E G H8642601390601390601390OMIM134713681603057
HP:0001510HP:0008897Postnatal growth retardation1DCHS1 CL E G H8642601390601390601390OMIM150213681603057
HP:0001510HP:0000823Delayed puberty1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM11402858601465
HP:0001510HP:0000823Delayed puberty1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM11562858601465
HP:0001510HP:0004322Short stature1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM11402858601465
HP:0001510HP:0004322Short stature1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM11562858601465
HP:0001510HP:0031087Absent pubertal growth spurt1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM11402858601465
HP:0001510HP:0031087Absent pubertal growth spurt1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM11562858601465
HP:0001510HP:0001511Intrauterine growth retardation1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM11402858601465
HP:0001510HP:0001511Intrauterine growth retardation1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM11562858601465
HP:0001510HP:0008897Postnatal growth retardation1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM11402858601465
HP:0001510HP:0008897Postnatal growth retardation1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM11562858601465
HP:0001510HP:0000823Delayed puberty1DHODH CL E G H1723263750Miller syndrome263750C0265257OMIM11462867126064
HP:0001510HP:0000823Delayed puberty1DHODH CL E G H1723263750Miller syndrome263750C0265257OMIM11512867126064
HP:0001510HP:0004322Short stature1DHODH CL E G H1723263750Miller syndrome263750C0265257OMIM11462867126064
HP:0001510HP:0004322Short stature1DHODH CL E G H1723263750Miller syndrome263750C0265257OMIM11512867126064
HP:0001510HP:0031087Absent pubertal growth spurt1DHODH CL E G H1723263750Miller syndrome263750C0265257OMIM11462867126064
HP:0001510HP:0031087Absent pubertal growth spurt1DHODH CL E G H1723263750Miller syndrome263750C0265257OMIM11512867126064
HP:0001510HP:0001511Intrauterine growth retardation1DHODH CL E G H1723263750Miller syndrome263750C0265257OMIM11462867126064
HP:0001510HP:0001511Intrauterine growth retardation1DHODH CL E G H1723263750Miller syndrome263750C0265257OMIM11512867126064
HP:0001510HP:0008897Postnatal growth retardation1DHODH CL E G H1723263750Miller syndrome263750C0265257OMIM11462867126064
HP:0001510HP:0008897Postnatal growth retardation1DHODH CL E G H1723263750Miller syndrome263750C0265257OMIM11512867126064
HP:0001510HP:0000823Delayed puberty1DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM13383012612779
HP:0001510HP:0000823Delayed puberty1DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM13403012612779
HP:0001510HP:0004322Short stature1DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM13383012612779
HP:0001510HP:0004322Short stature1DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM13403012612779
HP:0001510HP:0031087Absent pubertal growth spurt1DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM13383012612779
HP:0001510HP:0031087Absent pubertal growth spurt1DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM13403012612779
HP:0001510HP:0001511Intrauterine growth retardation1DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM13383012612779
HP:0001510HP:0001511Intrauterine growth retardation1DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM13403012612779
HP:0001510HP:0008897Postnatal growth retardation1DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM13383012612779
HP:0001510HP:0008897Postnatal growth retardation1DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM13403012612779
HP:0001510HP:0000823Delayed puberty1DPYS CL E G H1807222748Dihydropyrimidinase deficiency222748C0342803OMIM11153013613326
HP:0001510HP:0000823Delayed puberty1DPYS CL E G H1807222748Dihydropyrimidinase deficiency222748C0342803OMIM11413013613326
HP:0001510HP:0004322Short stature1DPYS CL E G H1807222748Dihydropyrimidinase deficiency222748C0342803OMIM11153013613326
HP:0001510HP:0004322Short stature1DPYS CL E G H1807222748Dihydropyrimidinase deficiency222748C0342803OMIM11413013613326
HP:0001510HP:0031087Absent pubertal growth spurt1DPYS CL E G H1807222748Dihydropyrimidinase deficiency222748C0342803OMIM11153013613326
HP:0001510HP:0031087Absent pubertal growth spurt1DPYS CL E G H1807222748Dihydropyrimidinase deficiency222748C0342803OMIM11413013613326
HP:0001510HP:0001511Intrauterine growth retardation1DPYS CL E G H1807222748Dihydropyrimidinase deficiency222748C0342803OMIM11153013613326
HP:0001510HP:0001511Intrauterine growth retardation1DPYS CL E G H1807222748Dihydropyrimidinase deficiency222748C0342803OMIM11413013613326
HP:0001510HP:0008897Postnatal growth retardation1DPYS CL E G H1807222748Dihydropyrimidinase deficiency222748C0342803OMIM11153013613326
HP:0001510HP:0008897Postnatal growth retardation1DPYS CL E G H1807222748Dihydropyrimidinase deficiency222748C0342803OMIM11413013613326
HP:0001510HP:0000