Human Phenotype Ontology 
Grandparent Node:
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Abnormality of skeletal physiology (HP:0011843)help
Parent Node:
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Abnormality of skeletal maturation (HP:0000927)help
..Starting node
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Delayed skeletal maturation (HP:0002750)help
Term ID: 2750
Name: Delayed skeletal maturation
Synonym: Delayed bone age; Delayed bone age before puberty; Delayed bone maturation; Delayed skeletal development; Retarded bone age; Retarded ossification; Skeletal maturation retardation
Definition: A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Comments:
Reference: HP:0002750
Genes and Diseases:
 
       Child Nodes:
........expandMarked delay in bone age (HP:0003799) help
........expandDysharmonic delayed bone age (HP:0005832) help

 Sister Nodes: 
..expandAccelerated skeletal maturation (HP:0005616) help
..expandDysharmonic bone age (HP:0200000) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002750HP:0002750Delayed skeletal maturation0A2ML1 CL E G H144568648ORPHA12131023336610627
HP:0002750HP:0002750Delayed skeletal maturation0ABCC9 CL E G H100601517ORPHA14949960601439
HP:0002750HP:0002750Delayed skeletal maturation0ABCC9 CL E G H10060239850Hypertrichotic osteochondrodysplasia239850C0795905OMIM14949960601439
HP:0002750HP:0002750Delayed skeletal maturation0ACAN CL E G H176608361Spondyloepiphyseal dysplasia, kimberley type608361C1842149OMIM164102319155760
HP:0002750HP:0002750Delayed skeletal maturation0AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM138183318613228
HP:0002750HP:0002750Delayed skeletal maturation0AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA143145325603100
HP:0002750HP:0002750Delayed skeletal maturation0AHSG CL E G H1972850ORPHA1643349138680
HP:0002750HP:0002750Delayed skeletal maturation0ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM1331929722138250
HP:0002750HP:0002750Delayed skeletal maturation0ALDH18A1 CL E G H5832601162Spastic paraplegia 9601162C1832669OMIM1331929722138250
HP:0002750HP:0002750Delayed skeletal maturation0ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM1412315672606941
HP:0002750HP:0002750Delayed skeletal maturation0ANKRD11 CL E G H291232332ORPHA113444921316611192
HP:0002750HP:0002750Delayed skeletal maturation0ANKRD11 CL E G H29123148050KBG syndrome148050C0220687OMIM113444921316611192
HP:0002750HP:0002750Delayed skeletal maturation0ANOS1 CL E G H3730432ArbovirosisORPHA11913046211300836
HP:0002750HP:0002750Delayed skeletal maturation0ANTXR1 CL E G H841682067ORPHA1142021014606410
HP:0002750HP:0002750Delayed skeletal maturation0ANTXR1 CL E G H84168230740Odontotrichomelic syndrome230740C0406723OMIM1142021014606410
HP:0002750HP:0002750Delayed skeletal maturation0ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM13613011110603024
HP:0002750HP:0002750Delayed skeletal maturation0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM118847118040614556
HP:0002750HP:0002750Delayed skeletal maturation0ATR CL E G H545808Baker Vinters syndromeORPHA134236882601215
HP:0002750HP:0002750Delayed skeletal maturation0ATR CL E G H545210600Seckel syndrome 1210600CN033164OMIM134236882601215
HP:0002750HP:0002750Delayed skeletal maturation0ATRIP CL E G H84126808Baker Vinters syndromeORPHA129833499606605
HP:0002750HP:0002750Delayed skeletal maturation0ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM1170485886300032
HP:0002750HP:0002750Delayed skeletal maturation0BLM CL E G H641125ORPHA11319081058604610
HP:0002750HP:0002750Delayed skeletal maturation0BMP15 CL E G H921024346,XX gonadal dysgenesisC0685837ORPHA1281691068300247
HP:0002750HP:0002750Delayed skeletal maturation0BRAF CL E G H673648ORPHA1684091097164757
HP:0002750HP:0002750Delayed skeletal maturation0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM1684091097164757
HP:0002750HP:0002750Delayed skeletal maturation0BRAF CL E G H673613707LEOPARD syndrome 3613707C3150971OMIM1684091097164757
HP:0002750HP:0002750Delayed skeletal maturation0BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA15019115832606158
HP:0002750HP:0002750Delayed skeletal maturation0BTK CL E G H695307200X-linked agammaglobulinemia with growth hormone deficiency307200C0472813OMIM19103441133300300
HP:0002750HP:0002750Delayed skeletal maturation0CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA113451527601047
HP:0002750HP:0002750Delayed skeletal maturation0CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA115599688603198
HP:0002750HP:0002750Delayed skeletal maturation0CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM11321629426612753
HP:0002750HP:0002750Delayed skeletal maturation0CCDC8 CL E G H839872616ORPHA131625367614145
HP:0002750HP:0002750Delayed skeletal maturation0CD96 CL E G H10225211750C syndrome211750C0796095OMIM139816892606037
HP:0002750HP:0002750Delayed skeletal maturation0CDC45 CL E G H83182554ORPHA1193541739603465
HP:0002750HP:0002750Delayed skeletal maturation0CDC6 CL E G H9902554ORPHA14411744602627
HP:0002750HP:0002750Delayed skeletal maturation0CDC6 CL E G H990613805Meier-Gorlin syndrome 5613805C3151126OMIM14411744602627
HP:0002750HP:0002750Delayed skeletal maturation0CDKN1C CL E G H1028614732Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies614732C1846009OMIM1813181786600856
HP:0002750HP:0002750Delayed skeletal maturation0CDT1 CL E G H816202554ORPHA11212424576605525
HP:0002750HP:0002750Delayed skeletal maturation0CDT1 CL E G H81620613804Meier-Gorlin syndrome 4613804C3151120OMIM11212424576605525
HP:0002750HP:0002750Delayed skeletal maturation0CENPE CL E G H1062808Baker Vinters syndromeORPHA14361856117143
HP:0002750HP:0002750Delayed skeletal maturation0CENPJ CL E G H55835808Baker Vinters syndromeORPHA11023317272609279
HP:0002750HP:0002750Delayed skeletal maturation0CEP152 CL E G H22995808Baker Vinters syndromeORPHA12019629298613529
HP:0002750HP:0002750Delayed skeletal maturation0CHD7 CL E G H55636432ArbovirosisORPHA188490520626608892
HP:0002750HP:0002750Delayed skeletal maturation0CHST3 CL E G H9469143095Spondyloepiphyseal dysplasia with congenital joint dislocations143095C1840471OMIM1391911971603799
HP:0002750HP:0002750Delayed skeletal maturation0CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA172226877616174
HP:0002750HP:0002750Delayed skeletal maturation0COL2A1 CL E G H128085198ORPHA15705512200120140
HP:0002750HP:0002750Delayed skeletal maturation0COL2A1 CL E G H1280150600Coxa plana150600C0023234OMIM15705512200120140
HP:0002750HP:0002750Delayed skeletal maturation0COL2A1 CL E G H12802380Freiberg's diseaseORPHA15705512200120140
HP:0002750HP:0002750Delayed skeletal maturation0COMP CL E G H1311750ORPHA11881182227600310
HP:0002750HP:0002750Delayed skeletal maturation0COX4I2 CL E G H84701612714Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis612714C2675184OMIM113716232607976
HP:0002750HP:0002750Delayed skeletal maturation0CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM131192309605032
HP:0002750HP:0002750Delayed skeletal maturation0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13645152348600140
HP:0002750HP:0002750Delayed skeletal maturation0CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM111172494602618
HP:0002750HP:0002750Delayed skeletal maturation0CTNS CL E G H1497219800Nephropathic cystinosis219800C0010690OMIM11603232518606272
HP:0002750HP:0002750Delayed skeletal maturation0CUL7 CL E G H98202616ORPHA18517921024609577
HP:0002750HP:0002750Delayed skeletal maturation0CUL7 CL E G H9820273750Three M syndrome 1273750C1848862OMIM18517921024609577
HP:0002750HP:0002750Delayed skeletal maturation0CYB5A CL E G H152890796ORPHA171282570613218
HP:0002750HP:0002750Delayed skeletal maturation0CYP11A1 CL E G H1583289548ORPHA130642590118485
HP:0002750HP:0002750Delayed skeletal maturation0CYP11A1 CL E G H1583168558ORPHA130642590118485
HP:0002750HP:0002750Delayed skeletal maturation0CYP11B1 CL E G H158490795ORPHA11612242591610613
HP:0002750HP:0002750Delayed skeletal maturation0CYP17A1 CL E G H158690793ORPHA1130772593609300
HP:0002750HP:0002750Delayed skeletal maturation0CYP17A1 CL E G H158690796ORPHA1130772593609300
HP:0002750HP:0002750Delayed skeletal maturation0CYP19A1 CL E G H1588613546Aromatase deficiency613546C1960539OMIM173892594107910
HP:0002750HP:0002750Delayed skeletal maturation0CYP19A1 CL E G H158891Malignant melanoma, childhoodORPHA173892594107910
HP:0002750HP:0002750Delayed skeletal maturation0DNAJC21 CL E G H134218811Balo diseaseORPHA1113727030617048
HP:0002750HP:0002750Delayed skeletal maturation0DNAJC21 CL E G H134218260400Shwachman syndrome260400C0272170OMIM1113727030617048
HP:0002750HP:0002750Delayed skeletal maturation0DPP6 CL E G H1804616311Mental retardation, autosomal dominant 33616311C4225375OMIM111673010126141
HP:0002750HP:0002750Delayed skeletal maturation0DUSP6 CL E G H1848432ArbovirosisORPHA15143072602748
HP:0002750HP:0002750Delayed skeletal maturation0DVL1 CL E G H1855180700Robinow syndrome180700C0265205OMIM1191623084601365
HP:0002750HP:0002750Delayed skeletal maturation0DVL3 CL E G H1857180700Robinow syndrome180700C0265205OMIM115393087601368
HP:0002750HP:0002750Delayed skeletal maturation0EFL1 CL E G H79631811Balo diseaseORPHA133025789617538
HP:0002750HP:0002750Delayed skeletal maturation0EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA181863255604032
HP:0002750HP:0002750Delayed skeletal maturation0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11073503373602700
HP:0002750HP:0002750Delayed skeletal maturation0ESR1 CL E G H2099615363Estrogen resistance615363C3809250OMIM138743467133430
HP:0002750HP:0002750Delayed skeletal maturation0EXT1 CL E G H2131502Acromegaloid hypertrichosis syndromeORPHA15322293512608177
HP:0002750HP:0002750Delayed skeletal maturation0EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA12212233519601653
HP:0002750HP:0002750Delayed skeletal maturation0FAM111A CL E G H6390193325ORPHA191524725615292
HP:0002750HP:0002750Delayed skeletal maturation0FBN1 CL E G H2200102370Acromicric dysplasia102370C0265287OMIM1272131543603134797
HP:0002750HP:0002750Delayed skeletal maturation0FBN1 CL E G H2200614185Geleophysic dysplasia 2614185C3280054OMIM1272131543603134797
HP:0002750HP:0002750Delayed skeletal maturation0FGF17 CL E G H8822432ArbovirosisORPHA15733673603725
HP:0002750HP:0002750Delayed skeletal maturation0FGF8 CL E G H2253432ArbovirosisORPHA141453686600483
HP:0002750HP:0002750Delayed skeletal maturation0FGF8 CL E G H2253612702Kallmann syndrome 6612702C2675188OMIM141453686600483
HP:0002750HP:0002750Delayed skeletal maturation0FGFR1 CL E G H22602645ORPHA12652733688136350
HP:0002750HP:0002750Delayed skeletal maturation0FGFR1 CL E G H2260432ArbovirosisORPHA12652733688136350
HP:0002750HP:0002750Delayed skeletal maturation0FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM171303693605830
HP:0002750HP:0002750Delayed skeletal maturation0FLNB CL E G H2317272460Spondylocarpotarsal synostosis syndrome272460C1848934OMIM11223643755603381
HP:0002750HP:0002750Delayed skeletal maturation0FMR1 CL E G H2332261483ORPHA1812293775309550
HP:0002750HP:0002750Delayed skeletal maturation0FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA12163796164810
HP:0002750HP:0002750Delayed skeletal maturation0FSHB CL E G H248852901ORPHA19483964136530
HP:0002750HP:0002750Delayed skeletal maturation0FSHB CL E G H2488229070Follicle-stimulating hormone deficiency, isolated229070C1856716OMIM19483964136530
HP:0002750HP:0002750Delayed skeletal maturation0FSHR CL E G H249224346,XX gonadal dysgenesisC0685837ORPHA141783969136435
HP:0002750HP:0002750Delayed skeletal maturation0GBA CL E G H262977259ORPHA14941594177606463
HP:0002750HP:0002750Delayed skeletal maturation0GBA CL E G H262977261ORPHA14941594177606463
HP:0002750HP:0002750Delayed skeletal maturation0GH1 CL E G H2688612781Isolated growth hormone deficiency type 1B612781C2748571OMIM1109694261139250
HP:0002750HP:0002750Delayed skeletal maturation0GH1 CL E G H2688262650Kowarski syndrome262650C1849779OMIM1109694261139250
HP:0002750HP:0002750Delayed skeletal maturation0GHR CL E G H2690314802ORPHA11211324263600946
HP:0002750HP:0002750Delayed skeletal maturation0GHR CL E G H2690633ORPHA11211324263600946
HP:0002750HP:0002750Delayed skeletal maturation0GHR CL E G H2690262500Laron-type isolated somatotropin defect262500C0271568OMIM11211324263600946
HP:0002750HP:0002750Delayed skeletal maturation0GHSR CL E G H2693314811ORPHA115654267601898
HP:0002750HP:0002750Delayed skeletal maturation0GJA1 CL E G H2697257850Oculodentodigital dysplasia, autosomal recessive257850C2749477OMIM11091014274121014
HP:0002750HP:0002750Delayed skeletal maturation0GMNN CL E G H510532554ORPHA131317493602842
HP:0002750HP:0002750Delayed skeletal maturation0GNRH1 CL E G H2796432ArbovirosisORPHA112864419152760
HP:0002750HP:0002750Delayed skeletal maturation0GNRHR CL E G H2798432ArbovirosisORPHA1591154421138850
HP:0002750HP:0002750Delayed skeletal maturation0GPX4 CL E G H287993317ORPHA14364556138322
HP:0002750HP:0002750Delayed skeletal maturation0H19 CL E G H283120180860Russell-Silver syndrome180860C0175693OMIM138444713103280
HP:0002750HP:0002750Delayed skeletal maturation0HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA15619413315300269
HP:0002750HP:0002750Delayed skeletal maturation0HRAS CL E G H32653071ORPHA1342205173190020
HP:0002750HP:0002750Delayed skeletal maturation0HS6ST1 CL E G H9394432ArbovirosisORPHA18285201604846
HP:0002750HP:0002750Delayed skeletal maturation0HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM11012455213601860
HP:0002750HP:0002750Delayed skeletal maturation0HSD3B2 CL E G H328490791ORPHA163555218613890
HP:0002750HP:0002750Delayed skeletal maturation0HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM1675075273142461
HP:0002750HP:0002750Delayed skeletal maturation0IGF1 CL E G H347973272ORPHA1131055464147440
HP:0002750HP:0002750Delayed skeletal maturation0IGF1 CL E G H3479608747Insulin-like growth factor I deficiency608747C1837475OMIM1131055464147440
HP:0002750HP:0002750Delayed skeletal maturation0IGF1R CL E G H348073273ORPHA1793805465147370
HP:0002750HP:0002750Delayed skeletal maturation0IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM1793805465147370
HP:0002750HP:0002750Delayed skeletal maturation0IGF2 CL E G H3481616489Growth restriction, severe, with distinctive facies616489C4225307OMIM111435466147470
HP:0002750HP:0002750Delayed skeletal maturation0IGF2 CL E G H3481180860Russell-Silver syndrome180860C0175693OMIM111435466147470
HP:0002750HP:0002750Delayed skeletal maturation0IGFALS CL E G H3483140941ORPHA1341055468601489
HP:0002750HP:0002750Delayed skeletal maturation0IHH CL E G H354963446ORPHA133705956600726
HP:0002750HP:0002750Delayed skeletal maturation0INPPL1 CL E G H36362746Hoyeraal syndromeORPHA132316080600829
HP:0002750HP:0002750Delayed skeletal maturation0INSR CL E G H3643508Acroosteolysis dominant typeORPHA11962746091147670
HP:0002750HP:0002750Delayed skeletal maturation0INSR CL E G H3643246200Leprechaunism syndrome246200C0265344OMIM11962746091147670
HP:0002750HP:0002750Delayed skeletal maturation0ITGB6 CL E G H36942850ORPHA17276161147558
HP:0002750HP:0002750Delayed skeletal maturation0KAT6B CL E G H23522648ORPHA17623917582605880
HP:0002750HP:0002750Delayed skeletal maturation0KCNJ2 CL E G H3759170390Andersen Tawil syndrome170390C1563715OMIM1942706263600681
HP:0002750HP:0002750Delayed skeletal maturation0KCNJ8 CL E G H37641517ORPHA18766269600935
HP:0002750HP:0002750Delayed skeletal maturation0KISS1 CL E G H3814432ArbovirosisORPHA115186341603286
HP:0002750HP:0002750Delayed skeletal maturation0KISS1 CL E G H3814614842Hypogonadotropic hypogonadism 13 with or without anosmia614842C3541462OMIM115186341603286
HP:0002750HP:0002750Delayed skeletal maturation0KISS1R CL E G H84634432ArbovirosisORPHA139584510604161
HP:0002750HP:0002750Delayed skeletal maturation0KISS1R CL E G H84634614837Hypogonadotropic hypogonadism 8 with or without anosmia614837C3553841OMIM139584510604161
HP:0002750HP:0002750Delayed skeletal maturation0KMT2A CL E G H4297319182ORPHA11271967132159555
HP:0002750HP:0002750Delayed skeletal maturation0KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA11271967132159555
HP:0002750HP:0002750Delayed skeletal maturation0KRAS CL E G H3845648ORPHA1452626407190070
HP:0002750HP:0002750Delayed skeletal maturation0LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM141166556604407
HP:0002750HP:0002750Delayed skeletal maturation0LETM1 CL E G H3954280Halal Setton Wang syndromeORPHA141166556604407
HP:0002750HP:0002750Delayed skeletal maturation0LIG4 CL E G H3981235ORPHA1402256601601837
HP:0002750HP:0002750Delayed skeletal maturation0LONP1 CL E G H93611458ORPHA119439479605490
HP:0002750HP:0002750Delayed skeletal maturation0LONP1 CL E G H9361600373CODAS syndrome600373C1838180OMIM119439479605490
HP:0002750HP:0002750Delayed skeletal maturation0LTBP3 CL E G H4054601216Verloes Bourguignon syndrome601216C1832594OMIM113506716602090
HP:0002750HP:0002750Delayed skeletal maturation0LZTR1 CL E G H8216648ORPHA1865296742600574
HP:0002750HP:0002750Delayed skeletal maturation0MAP3K7 CL E G H6885157800Forney Robinson Pascoe syndrome157800C2931461OMIM113416859602614
HP:0002750HP:0002750Delayed skeletal maturation0MCM9 CL E G H254394616185Ovarian dysgenesis 4616185C4015409OMIM1102921484610098
HP:0002750HP:0002750Delayed skeletal maturation0MECP2 CL E G H42041762ORPHA1105013086990300005
HP:0002750HP:0002750Delayed skeletal maturation0MMP13 CL E G H43222501Glucose-6-phosphate translocase deficiencyORPHA110737159600108
HP:0002750HP:0002750Delayed skeletal maturation0MMP13 CL E G H4322602111Spondyloepimetaphyseal dysplasia, Missouri type602111C1865832OMIM110737159600108
HP:0002750HP:0002750Delayed skeletal maturation0MRPS22 CL E G H5694524346,XX gonadal dysgenesisC0685837ORPHA197314508605810
HP:0002750HP:0002750Delayed skeletal maturation0MSMO1 CL E G H6307616834Microcephaly, congenital cataract, and psoriasiform dermatitis616834C4225189OMIM144210545607545
HP:0002750HP:0002750Delayed skeletal maturation0MSTO1 CL E G H55154502423ORPHA182229678617619
HP:0002750HP:0002750Delayed skeletal maturation0MSTO1 CL E G H55154617675MYOPATHY, MITOCHONDRIAL, AND ATAXIA617675C4540096OMIM182229678617619
HP:0002750HP:0002750Delayed skeletal maturation0MVK CL E G H459829ORPHA11832157530251170
HP:0002750HP:0002750Delayed skeletal maturation0NELFA CL E G H7469280Halal Setton Wang syndromeORPHA1411512768606026
HP:0002750HP:0002750Delayed skeletal maturation0NEU1 CL E G H4758812ORPHA164607758608272
HP:0002750HP:0002750Delayed skeletal maturation0NIN CL E G H51199614851Seckel syndrome 7614851C3553870OMIM187614906608684
HP:0002750HP:0002750Delayed skeletal maturation0NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA143767928862608667
HP:0002750HP:0002750Delayed skeletal maturation0NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM143767928862608667
HP:0002750HP:0002750Delayed skeletal maturation0NR5A1 CL E G H251624346,XX gonadal dysgenesisC0685837ORPHA1189797983184757
HP:0002750HP:0002750Delayed skeletal maturation0NRAS CL E G H4893648ORPHA1141347989164790
HP:0002750HP:0002750Delayed skeletal maturation0NSD1 CL E G H64324228415ORPHA152580314234606681
HP:0002750HP:0002750Delayed skeletal maturation0NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM11424512766602952
HP:0002750HP:0002750Delayed skeletal maturation0NSD2 CL E G H7468280Halal Setton Wang syndromeORPHA11424512766602952
HP:0002750HP:0002750Delayed skeletal maturation0NSMF CL E G H26012432ArbovirosisORPHA197929843608137
HP:0002750HP:0002750Delayed skeletal maturation0NSUN2 CL E G H54888235ORPHA1720525994610916
HP:0002750HP:0002750Delayed skeletal maturation0NUP107 CL E G H5712224346,XX gonadal dysgenesisC0685837ORPHA1122329914607617
HP:0002750HP:0002750Delayed skeletal maturation0OBSL1 CL E G H233632616ORPHA13519229092610991
HP:0002750HP:0002750Delayed skeletal maturation0ORC1 CL E G H49982554ORPHA112658487601902
HP:0002750HP:0002750Delayed skeletal maturation0ORC1 CL E G H4998224690Meier-Gorlin syndrome 1224690CN030358OMIM112658487601902
HP:0002750HP:0002750Delayed skeletal maturation0ORC4 CL E G H50002554ORPHA16728490603056
HP:0002750HP:0002750Delayed skeletal maturation0ORC4 CL E G H5000613800Meier-Gorlin syndrome 2613800C3151097OMIM16728490603056
HP:0002750HP:0002750Delayed skeletal maturation0ORC6 CL E G H235942554ORPHA166717151607213
HP:0002750HP:0002750Delayed skeletal maturation0ORC6 CL E G H23594613803Meier-Gorlin syndrome 3613803C3151113OMIM166717151607213
HP:0002750HP:0002750Delayed skeletal maturation0PAM16 CL E G H51025613320Spondylometaphyseal dysplasia, megarbane-dagher-melki type613320C2750075OMIM123529679614336
HP:0002750HP:0002750Delayed skeletal maturation0PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA110238615167411
HP:0002750HP:0002750Delayed skeletal maturation0PAX8 CL E G H7849218700Thyroid dysgenesis218700C1563716OMIM151778622167415
HP:0002750HP:0002750Delayed skeletal maturation0PCNT CL E G H5116808Baker Vinters syndromeORPHA18871316068605925
HP:0002750HP:0002750Delayed skeletal maturation0PCNT CL E G H51162637HemimegalencephalyORPHA18871316068605925
HP:0002750HP:0002750Delayed skeletal maturation0PCNT CL E G H5116210720Microcephalic osteodysplastic primordial dwarfism type 2210720C0432246OMIM18871316068605925
HP:0002750HP:0002750Delayed skeletal maturation0PDGFRB CL E G H5159601812Premature aging syndrome, Penttinen type601812C1866182OMIM124738804173410
HP:0002750HP:0002750Delayed skeletal maturation0PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM11403398850602136
HP:0002750HP:0002750Delayed skeletal maturation0PIGT CL E G H51604615398Multiple congenital anomalies-hypotonia-seizures syndrome 3615398C3809356OMIM1124414938610272
HP:0002750HP:0002750Delayed skeletal maturation0PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM129968979171833
HP:0002750HP:0002750Delayed skeletal maturation0PLK4 CL E G H10733808Baker Vinters syndromeORPHA163611397605031
HP:0002750HP:0002750Delayed skeletal maturation0POP1 CL E G H10940617396Anauxetic dysplasia 2617396C4479357OMIM173330129602486
HP:0002750HP:0002750Delayed skeletal maturation0POR CL E G H544795699ORPHA1921389208124015
HP:0002750HP:0002750Delayed skeletal maturation0PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA154719236601487
HP:0002750HP:0002750Delayed skeletal maturation0PPP1CB CL E G H55002701Noonan syndrome-like disorder with loose anagen hairC3501846ORPHA112329282600590
HP:0002750HP:0002750Delayed skeletal maturation0PPP1CB CL E G H5500617506Noonan syndrome-like disorder with loose anagen hair 2617506C4479577OMIM112329282600590
HP:0002750HP:0002750Delayed skeletal maturation0PROK2 CL E G H60675432ArbovirosisORPHA1212818455607002
HP:0002750HP:0002750Delayed skeletal maturation0PROKR2 CL E G H128674432ArbovirosisORPHA1836515836607123
HP:0002750HP:0002750Delayed skeletal maturation0PSMC3IP CL E G H2989324346,XX gonadal dysgenesisC0685837ORPHA171517928608665
HP:0002750HP:0002750Delayed skeletal maturation0PTDSS1 CL E G H97912658ORPHA17359587612792
HP:0002750HP:0002750Delayed skeletal maturation0PTDSS1 CL E G H9791151050Lenz-Majewski hyperostosis syndrome151050C0432269OMIM17359587612792
HP:0002750HP:0002750Delayed skeletal maturation0PTPN11 CL E G H5781648ORPHA11433809644176876
HP:0002750HP:0002750Delayed skeletal maturation0RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA1131089811606462
HP:0002750HP:0002750Delayed skeletal maturation0RAF1 CL E G H5894648ORPHA1544049829164760
HP:0002750HP:0002750Delayed skeletal maturation0RASA2 CL E G H5922648ORPHA13309872601589
HP:0002750HP:0002750Delayed skeletal maturation0RBBP8 CL E G H5932808Baker Vinters syndromeORPHA161219891604124
HP:0002750HP:0002750Delayed skeletal maturation0RIT1 CL E G H6016648ORPHA1267910023609591
HP:0002750HP:0002750Delayed skeletal maturation0RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA1243834016601428
HP:0002750HP:0002750Delayed skeletal maturation0RNU4ATAC CL E G H100151683210710Osteodysplastic primordial dwarfism, type 1210710C1859452OMIM1243834016601428
HP:0002750HP:0002750Delayed skeletal maturation0ROR2 CL E G H4920268310Robinow syndrome, autosomal recessive268310C1849334OMIM14017610257602337
HP:0002750HP:0002750Delayed skeletal maturation0RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM117127510432300075
HP:0002750HP:0002750Delayed skeletal maturation0RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA117127510432300075
HP:0002750HP:0002750Delayed skeletal maturation0RRAS CL E G H6237648ORPHA124810447165090
HP:0002750HP:0002750Delayed skeletal maturation0RSPRY1 CL E G H89970616723Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type616723C4225232OMIM142429420616585
HP:0002750HP:0002750Delayed skeletal maturation0SBDS CL E G H51119811Balo diseaseORPHA1905519440607444
HP:0002750HP:0002750Delayed skeletal maturation0SBDS CL E G H51119260400Shwachman syndrome260400C0272170OMIM1905519440607444
HP:0002750HP:0002750Delayed skeletal maturation0SCARB2 CL E G H95077259ORPHA1271881665602257
HP:0002750HP:0002750Delayed skeletal maturation0SECISBP2 CL E G H79048609698Thyroid hormone metabolism, abnormal609698C1864761OMIM1153630972607693
HP:0002750HP:0002750Delayed skeletal maturation0SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA13813425566615743
HP:0002750HP:0002750Delayed skeletal maturation0SHOC2 CL E G H80362701Noonan syndrome-like disorder with loose anagen hairC3501846ORPHA1414115454602775
HP:0002750HP:0002750Delayed skeletal maturation0SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM122820662608744
HP:0002750HP:0002750Delayed skeletal maturation0SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM16716111065603593
HP:0002750HP:0002750Delayed skeletal maturation0SMARCA4 CL E G H6597614609Mental retardation, autosomal dominant 16614609C3553249OMIM157172711100603254
HP:0002750HP:0002750Delayed skeletal maturation0SMARCB1 CL E G H6598614608Mental retardation, autosomal dominant 15614608C3553248OMIM111934211103601607
HP:0002750HP:0002750Delayed skeletal maturation0SMC1A CL E G H8243319182ORPHA110035011111300040
HP:0002750HP:0002750Delayed skeletal maturation0SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA110035011111300040
HP:0002750HP:0002750Delayed skeletal maturation0SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA1281582468606062
HP:0002750HP:0002750Delayed skeletal maturation0SOS1 CL E G H6654648ORPHA17551511187182530
HP:0002750HP:0002750Delayed skeletal maturation0SOS2 CL E G H6655648ORPHA1621211188601247
HP:0002750HP:0002750Delayed skeletal maturation0SPIDR CL E G H2351424346,XX gonadal dysgenesisC0685837ORPHA114528971615384
HP:0002750HP:0002750Delayed skeletal maturation0SPRTN CL E G H83932616200Ruijs-Aalfs syndrome616200C4015461OMIM132925356616086
HP:0002750HP:0002750Delayed skeletal maturation0SPRY4 CL E G H81848432ArbovirosisORPHA1112315533607984
HP:0002750HP:0002750Delayed skeletal maturation0SRCAP CL E G H108472044Ectodermal dysplasia Berlin typeORPHA14419016974611421
HP:0002750HP:0002750Delayed skeletal maturation0SRCAP CL E G H10847136140Floating-Harbor syndrome136140C0729582OMIM14419016974611421
HP:0002750HP:0002750Delayed skeletal maturation0SRP54 CL E G H6729811Balo diseaseORPHA132411301604857
HP:0002750HP:0002750Delayed skeletal maturation0SRP54 CL E G H6729260400Shwachman syndrome260400C0272170OMIM132411301604857
HP:0002750HP:0002750Delayed skeletal maturation0STAT1 CL E G H6772391487ORPHA113015211362600555
HP:0002750HP:0002750Delayed skeletal maturation0TAB2 CL E G H23118228410ORPHA1334317075605101
HP:0002750HP:0002750Delayed skeletal maturation0TAC3 CL E G H6866432ArbovirosisORPHA1101611521162330
HP:0002750HP:0002750Delayed skeletal maturation0TACR3 CL E G H6870432ArbovirosisORPHA1375911528162332
HP:0002750HP:0002750Delayed skeletal maturation0TAF13 CL E G H6884617432Mental retardation, autosomal recessive 60617432C4479476OMIM142611546600774
HP:0002750HP:0002750Delayed skeletal maturation0TBCE CL E G H690593324ORPHA1812111582604934
HP:0002750HP:0002750Delayed skeletal maturation0TBCE CL E G H6905241410Hypoparathyroidism retardation dysmorphism syndrome241410C1855840OMIM1812111582604934
HP:0002750HP:0002750Delayed skeletal maturation0TBCE CL E G H6905244460Kenny-Caffey syndrome type 1244460C1855648OMIM1812111582604934
HP:0002750HP:0002750Delayed skeletal maturation0TBCE CL E G H69052323Triple-Negative Breast Cancer FindingC2348819ORPHA1812111582604934
HP:0002750HP:0002750Delayed skeletal maturation0THRA CL E G H7067614450Hypothyroidism, congenital, nongoitrous, 6614450C3280817OMIM1142211796190120
HP:0002750HP:0002750Delayed skeletal maturation0THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA117122411799190160
HP:0002750HP:0002750Delayed skeletal maturation0TMEM67 CL E G H91147602152RHYNS syndrome602152C1865794OMIM117426128396609884
HP:0002750HP:0002750Delayed skeletal maturation0TRAIP CL E G H10293808Baker Vinters syndromeORPHA121330764605958
HP:0002750HP:0002750Delayed skeletal maturation0TRH CL E G H7200275120Hypothalamic hypothyroidism275120C0220998OMIM132012298613879
HP:0002750HP:0002750Delayed skeletal maturation0TRPS1 CL E G H7227502Acromegaloid hypertrichosis syndromeORPHA114227212340604386
HP:0002750HP:0002750Delayed skeletal maturation0TRPS1 CL E G H7227190350Trichorhinophalangeal dysplasia type I190350C0432233OMIM114227212340604386
HP:0002750HP:0002750Delayed skeletal maturation0TRPS1 CL E G H7227190351Trichorhinophalangeal syndrome type 3190351C1860823OMIM114227212340604386
HP:0002750HP:0002750Delayed skeletal maturation0TRPV4 CL E G H5934193314ORPHA18239618083605427
HP:0002750HP:0002750Delayed skeletal maturation0TRPV4 CL E G H59341184252Spondylometaphyseal dysplasia, Kozlowski type184252C0265280OMIM18239618083605427
HP:0002750HP:0002750Delayed skeletal maturation0UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA1714516808605981
HP:0002750HP:0002750Delayed skeletal maturation0UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM1714516808605981
HP:0002750HP:0002750Delayed skeletal maturation0WDR11 CL E G H55717432ArbovirosisORPHA1184613831606417
HP:0002750HP:0002750Delayed skeletal maturation0WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM1127640
HP:0002750HP:0002750Delayed skeletal maturation0WNT5A CL E G H7474180700Robinow syndrome180700C0265205OMIM11111212784164975
HP:0002750HP:0002750Delayed skeletal maturation0ZBTB16 CL E G H7704612447Skeletal defects, genital hypoplasia, and mental retardation612447C2676231OMIM121112930176797
HP:0002750HP:0002750Delayed skeletal maturation1A2ML1 CL E G H144568648ORPHA12131023336610627
HP:0002750HP:0002750Delayed skeletal maturation1ABCC9 CL E G H100601517ORPHA14949960601439
HP:0002750HP:0002750Delayed skeletal maturation1ABCC9 CL E G H10060239850Hypertrichotic osteochondrodysplasia239850C0795905OMIM14949960601439
HP:0002750HP:0002750Delayed skeletal maturation1ACAN CL E G H176608361Spondyloepiphyseal dysplasia, kimberley type608361C1842149OMIM164102319155760
HP:0002750HP:0002750Delayed skeletal maturation1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM138183318613228
HP:0002750HP:0002750Delayed skeletal maturation1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA143145325603100
HP:0002750HP:0002750Delayed skeletal maturation1AHSG CL E G H1972850ORPHA1643349138680
HP:0002750HP:0002750Delayed skeletal maturation1ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM1331929722138250
HP:0002750HP:0002750Delayed skeletal maturation1ALDH18A1 CL E G H5832601162Spastic paraplegia 9601162C1832669OMIM1331929722138250
HP:0002750HP:0002750Delayed skeletal maturation1ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM1412315672606941
HP:0002750HP:0002750Delayed skeletal maturation1ANKRD11 CL E G H291232332ORPHA113444921316611192
HP:0002750HP:0002750Delayed skeletal maturation1ANKRD11 CL E G H29123148050KBG syndrome148050C0220687OMIM113444921316611192
HP:0002750HP:0002750Delayed skeletal maturation1ANOS1 CL E G H3730432ArbovirosisORPHA11913046211300836
HP:0002750HP:0002750Delayed skeletal maturation1ANTXR1 CL E G H841682067ORPHA1142021014606410
HP:0002750HP:0002750Delayed skeletal maturation1ANTXR1 CL E G H84168230740Odontotrichomelic syndrome230740C0406723OMIM1142021014606410
HP:0002750HP:0002750Delayed skeletal maturation1ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM13613011110603024
HP:0002750HP:0002750Delayed skeletal maturation1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM118847118040614556
HP:0002750HP:0002750Delayed skeletal maturation1ATR CL E G H545808Baker Vinters syndromeORPHA134236882601215
HP:0002750HP:0002750Delayed skeletal maturation1ATR CL E G H545210600Seckel syndrome 1210600CN033164OMIM134236882601215
HP:0002750HP:0002750Delayed skeletal maturation1ATRIP CL E G H84126808Baker Vinters syndromeORPHA129833499606605
HP:0002750HP:0002750Delayed skeletal maturation1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM1170485886300032
HP:0002750HP:0002750Delayed skeletal maturation1BLM CL E G H641125ORPHA11319081058604610
HP:0002750HP:0002750Delayed skeletal maturation1BMP15 CL E G H921024346,XX gonadal dysgenesisC0685837ORPHA1281691068300247
HP:0002750HP:0002750Delayed skeletal maturation1BRAF CL E G H673648ORPHA1684091097164757
HP:0002750HP:0002750Delayed skeletal maturation1BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM1684091097164757
HP:0002750HP:0002750Delayed skeletal maturation1BRAF CL E G H673613707LEOPARD syndrome 3613707C3150971OMIM1684091097164757
HP:0002750HP:0002750Delayed skeletal maturation1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA15019115832606158
HP:0002750HP:0002750Delayed skeletal maturation1BTK CL E G H695307200X-linked agammaglobulinemia with growth hormone deficiency307200C0472813OMIM19103441133300300
HP:0002750HP:0002750Delayed skeletal maturation1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA113451527601047
HP:0002750HP:0002750Delayed skeletal maturation1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA115599688603198
HP:0002750HP:0002750Delayed skeletal maturation1CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM11321629426612753
HP:0002750HP:0002750Delayed skeletal maturation1CCDC8 CL E G H839872616ORPHA131625367614145
HP:0002750HP:0002750Delayed skeletal maturation1CD96 CL E G H10225211750C syndrome211750C0796095OMIM139816892606037
HP:0002750HP:0002750Delayed skeletal maturation1CDC45 CL E G H83182554ORPHA1193541739603465
HP:0002750HP:0002750Delayed skeletal maturation1CDC6 CL E G H9902554ORPHA14411744602627
HP:0002750HP:0002750Delayed skeletal maturation1CDC6 CL E G H990613805Meier-Gorlin syndrome 5613805C3151126OMIM14411744602627
HP:0002750HP:0002750Delayed skeletal maturation1CDKN1C CL E G H1028614732Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies614732C1846009OMIM1813181786600856
HP:0002750HP:0002750Delayed skeletal maturation1CDT1 CL E G H816202554ORPHA11212424576605525
HP:0002750HP:0002750Delayed skeletal maturation1CDT1 CL E G H81620613804Meier-Gorlin syndrome 4613804C3151120OMIM11212424576605525
HP:0002750HP:0002750Delayed skeletal maturation1CENPE CL E G H1062808Baker Vinters syndromeORPHA14361856117143
HP:0002750HP:0002750Delayed skeletal maturation1CENPJ CL E G H55835808Baker Vinters syndromeORPHA11023317272609279
HP:0002750HP:0002750Delayed skeletal maturation1CEP152 CL E G H22995808Baker Vinters syndromeORPHA12019629298613529
HP:0002750HP:0002750Delayed skeletal maturation1CHD7 CL E G H55636432ArbovirosisORPHA188490520626608892
HP:0002750HP:0002750Delayed skeletal maturation1CHST3 CL E G H9469143095Spondyloepiphyseal dysplasia with congenital joint dislocations143095C1840471OMIM1391911971603799
HP:0002750HP:0002750Delayed skeletal maturation1CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA172226877616174
HP:0002750HP:0002750Delayed skeletal maturation1COL2A1 CL E G H128085198ORPHA15705512200120140
HP:0002750HP:0002750Delayed skeletal maturation1COL2A1 CL E G H1280150600Coxa plana150600C0023234OMIM15705512200120140
HP:0002750HP:0002750Delayed skeletal maturation1COL2A1 CL E G H12802380Freiberg's diseaseORPHA15705512200120140
HP:0002750HP:0002750Delayed skeletal maturation1COMP CL E G H1311750ORPHA11881182227600310
HP:0002750HP:0002750Delayed skeletal maturation1COX4I2 CL E G H84701612714Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis612714C2675184OMIM113716232607976
HP:0002750HP:0002750Delayed skeletal maturation1CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM131192309605032
HP:0002750HP:0002750Delayed skeletal maturation1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13645152348600140
HP:0002750HP:0002750Delayed skeletal maturation1CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM111172494602618
HP:0002750HP:0002750Delayed skeletal maturation1CTNS CL E G H1497219800Nephropathic cystinosis219800C0010690OMIM11603232518606272
HP:0002750HP:0002750Delayed skeletal maturation1CUL7 CL E G H98202616ORPHA18517921024609577
HP:0002750HP:0002750Delayed skeletal maturation1CUL7 CL E G H9820273750Three M syndrome 1273750C1848862OMIM18517921024609577
HP:0002750HP:0002750Delayed skeletal maturation1CYB5A CL E G H152890796ORPHA171282570613218
HP:0002750HP:0002750Delayed skeletal maturation1CYP11A1 CL E G H1583289548ORPHA130642590118485
HP:0002750HP:0002750Delayed skeletal maturation1CYP11A1 CL E G H1583168558ORPHA130642590118485
HP:0002750HP:0002750Delayed skeletal maturation1CYP11B1 CL E G H158490795ORPHA11612242591610613
HP:0002750HP:0002750Delayed skeletal maturation1CYP17A1 CL E G H158690796ORPHA1130772593609300
HP:0002750HP:0002750Delayed skeletal maturation1CYP17A1 CL E G H158690793ORPHA1130772593609300
HP:0002750HP:0002750Delayed skeletal maturation1CYP19A1 CL E G H1588613546Aromatase deficiency613546C1960539OMIM173892594107910
HP:0002750HP:0002750Delayed skeletal maturation1CYP19A1 CL E G H158891Malignant melanoma, childhoodORPHA173892594107910
HP:0002750HP:0002750Delayed skeletal maturation1DNAJC21 CL E G H134218811Balo diseaseORPHA1113727030617048
HP:0002750HP:0002750Delayed skeletal maturation1DNAJC21 CL E G H134218260400Shwachman syndrome260400C0272170OMIM1113727030617048
HP:0002750HP:0002750Delayed skeletal maturation1DPP6 CL E G H1804616311Mental retardation, autosomal dominant 33616311C4225375OMIM111673010126141
HP:0002750HP:0002750Delayed skeletal maturation1DUSP6 CL E G H1848432ArbovirosisORPHA15143072602748
HP:0002750HP:0002750Delayed skeletal maturation1DVL1 CL E G H1855180700Robinow syndrome180700C0265205OMIM1191623084601365
HP:0002750HP:0002750Delayed skeletal maturation1DVL3 CL E G H1857180700Robinow syndrome180700C0265205OMIM115393087601368
HP:0002750HP:0002750Delayed skeletal maturation1EFL1 CL E G H79631811Balo diseaseORPHA133025789617538
HP:0002750HP:0002750Delayed skeletal maturation1EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA181863255604032
HP:0002750HP:0002750Delayed skeletal maturation1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11073503373602700
HP:0002750HP:0002750Delayed skeletal maturation1ESR1 CL E G H2099615363Estrogen resistance615363C3809250OMIM138743467133430
HP:0002750HP:0002750Delayed skeletal maturation1EXT1 CL E G H2131502Acromegaloid hypertrichosis syndromeORPHA15322293512608177
HP:0002750HP:0002750Delayed skeletal maturation1EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA12212233519601653
HP:0002750HP:0002750Delayed skeletal maturation1FAM111A CL E G H6390193325ORPHA191524725615292
HP:0002750HP:0002750Delayed skeletal maturation1FBN1 CL E G H2200102370Acromicric dysplasia102370C0265287OMIM1272131543603134797
HP:0002750HP:0002750Delayed skeletal maturation1FBN1 CL E G H2200614185Geleophysic dysplasia 2614185C3280054OMIM1272131543603134797
HP:0002750HP:0002750Delayed skeletal maturation1FGF17 CL E G H8822432ArbovirosisORPHA15733673603725
HP:0002750HP:0002750Delayed skeletal maturation1FGF8 CL E G H2253432ArbovirosisORPHA141453686600483
HP:0002750HP:0002750Delayed skeletal maturation1FGF8 CL E G H2253612702Kallmann syndrome 6612702C2675188OMIM141453686600483
HP:0002750HP:0002750Delayed skeletal maturation1FGFR1 CL E G H22602645ORPHA12652733688136350
HP:0002750HP:0002750Delayed skeletal maturation1FGFR1 CL E G H2260432ArbovirosisORPHA12652733688136350
HP:0002750HP:0002750Delayed skeletal maturation1FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM171303693605830
HP:0002750HP:0002750Delayed skeletal maturation1FLNB CL E G H2317272460Spondylocarpotarsal synostosis syndrome272460C1848934OMIM11223643755603381
HP:0002750HP:0002750Delayed skeletal maturation1FMR1 CL E G H2332261483ORPHA1812293775309550
HP:0002750HP:0002750Delayed skeletal maturation1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA12163796164810
HP:0002750HP:0002750Delayed skeletal maturation1FSHB CL E G H248852901ORPHA19483964136530
HP:0002750HP:0002750Delayed skeletal maturation1FSHB CL E G H2488229070Follicle-stimulating hormone deficiency, isolated229070C1856716OMIM19483964136530
HP:0002750HP:0002750Delayed skeletal maturation1FSHR CL E G H249224346,XX gonadal dysgenesisC0685837ORPHA141783969136435
HP:0002750HP:0002750Delayed skeletal maturation1GBA CL E G H262977261ORPHA14941594177606463
HP:0002750HP:0002750Delayed skeletal maturation1GBA CL E G H262977259ORPHA14941594177606463
HP:0002750HP:0002750Delayed skeletal maturation1GH1 CL E G H2688612781Isolated growth hormone deficiency type 1B612781C2748571OMIM1109694261139250
HP:0002750HP:0002750Delayed skeletal maturation1GH1 CL E G H2688262650Kowarski syndrome262650C1849779OMIM1109694261139250
HP:0002750HP:0002750Delayed skeletal maturation1GHR CL E G H2690314802ORPHA11211324263600946
HP:0002750HP:0002750Delayed skeletal maturation1GHR CL E G H2690633ORPHA11211324263600946
HP:0002750HP:0002750Delayed skeletal maturation1GHR CL E G H2690262500Laron-type isolated somatotropin defect262500C0271568OMIM11211324263600946
HP:0002750HP:0002750Delayed skeletal maturation1GHSR CL E G H2693314811ORPHA115654267601898
HP:0002750HP:0002750Delayed skeletal maturation1GJA1 CL E G H2697257850Oculodentodigital dysplasia, autosomal recessive257850C2749477OMIM11091014274121014
HP:0002750HP:0002750Delayed skeletal maturation1GMNN CL E G H510532554ORPHA131317493602842
HP:0002750HP:0002750Delayed skeletal maturation1GNRH1 CL E G H2796432ArbovirosisORPHA112864419152760
HP:0002750HP:0002750Delayed skeletal maturation1GNRHR CL E G H2798432ArbovirosisORPHA1591154421138850
HP:0002750HP:0002750Delayed skeletal maturation1GPX4 CL E G H287993317ORPHA14364556138322
HP:0002750HP:0002750Delayed skeletal maturation1H19 CL E G H283120180860Russell-Silver syndrome180860C0175693OMIM138444713103280
HP:0002750HP:0002750Delayed skeletal maturation1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA15619413315300269
HP:0002750HP:0002750Delayed skeletal maturation1HRAS CL E G H32653071ORPHA1342205173190020
HP:0002750HP:0002750Delayed skeletal maturation1HS6ST1 CL E G H9394432ArbovirosisORPHA18285201604846
HP:0002750HP:0002750Delayed skeletal maturation1HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM11012455213601860
HP:0002750HP:0002750Delayed skeletal maturation1HSD3B2 CL E G H328490791ORPHA163555218613890
HP:0002750HP:0002750Delayed skeletal maturation1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM1675075273142461
HP:0002750HP:0002750Delayed skeletal maturation1IGF1 CL E G H347973272ORPHA1131055464147440
HP:0002750HP:0002750Delayed skeletal maturation1IGF1 CL E G H3479608747Insulin-like growth factor I deficiency608747C1837475OMIM1131055464147440
HP:0002750HP:0002750Delayed skeletal maturation1IGF1R CL E G H348073273ORPHA1793805465147370
HP:0002750HP:0002750Delayed skeletal maturation1IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM1793805465147370
HP:0002750HP:0002750Delayed skeletal maturation1IGF2 CL E G H3481616489Growth restriction, severe, with distinctive facies616489C4225307OMIM111435466147470
HP:0002750HP:0002750Delayed skeletal maturation1IGF2 CL E G H3481180860Russell-Silver syndrome180860C0175693OMIM111435466147470
HP:0002750HP:0002750Delayed skeletal maturation1IGFALS CL E G H3483140941ORPHA1341055468601489
HP:0002750HP:0002750Delayed skeletal maturation1IHH CL E G H354963446ORPHA133705956600726
HP:0002750HP:0002750Delayed skeletal maturation1INPPL1 CL E G H36362746Hoyeraal syndromeORPHA132316080600829
HP:0002750HP:0002750Delayed skeletal maturation1INSR CL E G H3643508Acroosteolysis dominant typeORPHA11962746091147670
HP:0002750HP:0002750Delayed skeletal maturation1INSR CL E G H3643246200Leprechaunism syndrome246200C0265344OMIM11962746091147670
HP:0002750HP:0002750Delayed skeletal maturation1ITGB6 CL E G H36942850ORPHA17276161147558
HP:0002750HP:0002750Delayed skeletal maturation1KAT6B CL E G H23522648ORPHA17623917582605880
HP:0002750HP:0002750Delayed skeletal maturation1KCNJ2 CL E G H3759170390Andersen Tawil syndrome170390C1563715OMIM1942706263600681
HP:0002750HP:0002750Delayed skeletal maturation1KCNJ8 CL E G H37641517ORPHA18766269600935
HP:0002750HP:0002750Delayed skeletal maturation1KISS1 CL E G H3814432ArbovirosisORPHA115186341603286
HP:0002750HP:0002750Delayed skeletal maturation1KISS1 CL E G H3814614842Hypogonadotropic hypogonadism 13 with or without anosmia614842C3541462OMIM115186341603286
HP:0002750HP:0002750Delayed skeletal maturation1KISS1R CL E G H84634432ArbovirosisORPHA139584510604161
HP:0002750HP:0002750Delayed skeletal maturation1KISS1R CL E G H84634614837Hypogonadotropic hypogonadism 8 with or without anosmia614837C3553841OMIM139584510604161
HP:0002750HP:0002750Delayed skeletal maturation1KMT2A CL E G H4297319182ORPHA11271967132159555
HP:0002750HP:0002750Delayed skeletal maturation1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA11271967132159555
HP:0002750HP:0002750Delayed skeletal maturation1KRAS CL E G H3845648ORPHA1452626407190070
HP:0002750HP:0002750Delayed skeletal maturation1LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM141166556604407
HP:0002750HP:0002750Delayed skeletal maturation1LETM1 CL E G H3954280Halal Setton Wang syndromeORPHA141166556604407
HP:0002750HP:0002750Delayed skeletal maturation1LIG4 CL E G H3981235ORPHA1402256601601837
HP:0002750HP:0002750Delayed skeletal maturation1LONP1 CL E G H93611458ORPHA119439479605490
HP:0002750HP:0002750Delayed skeletal maturation1LONP1 CL E G H9361600373CODAS syndrome600373C1838180OMIM119439479605490
HP:0002750HP:0002750Delayed skeletal maturation1LTBP3 CL E G H4054601216Verloes Bourguignon syndrome601216C1832594OMIM113506716602090
HP:0002750HP:0002750Delayed skeletal maturation1LZTR1 CL E G H8216648ORPHA1865296742600574
HP:0002750HP:0002750Delayed skeletal maturation1MAP3K7 CL E G H6885157800Forney Robinson Pascoe syndrome157800C2931461OMIM113416859602614
HP:0002750HP:0002750Delayed skeletal maturation1MCM9 CL E G H254394616185Ovarian dysgenesis 4616185C4015409OMIM1102921484610098
HP:0002750HP:0002750Delayed skeletal maturation1MECP2 CL E G H42041762ORPHA1105013086990300005
HP:0002750HP:0002750Delayed skeletal maturation1MMP13 CL E G H43222501Glucose-6-phosphate translocase deficiencyORPHA110737159600108
HP:0002750HP:0002750Delayed skeletal maturation1MMP13 CL E G H4322602111Spondyloepimetaphyseal dysplasia, Missouri type602111C1865832OMIM110737159600108
HP:0002750HP:0002750Delayed skeletal maturation1MRPS22 CL E G H5694524346,XX gonadal dysgenesisC0685837ORPHA197314508605810
HP:0002750HP:0002750Delayed skeletal maturation1MSMO1 CL E G H6307616834Microcephaly, congenital cataract, and psoriasiform dermatitis616834C4225189OMIM144210545607545
HP:0002750HP:0002750Delayed skeletal maturation1MSTO1 CL E G H55154502423ORPHA182229678617619
HP:0002750HP:0002750Delayed skeletal maturation1MSTO1 CL E G H55154617675MYOPATHY, MITOCHONDRIAL, AND ATAXIA617675C4540096OMIM182229678617619
HP:0002750HP:0002750Delayed skeletal maturation1MVK CL E G H459829ORPHA11832157530251170
HP:0002750HP:0002750Delayed skeletal maturation1NELFA CL E G H7469280Halal Setton Wang syndromeORPHA1411512768606026
HP:0002750HP:0002750Delayed skeletal maturation1NEU1 CL E G H4758812ORPHA164607758608272
HP:0002750HP:0002750Delayed skeletal maturation1NIN CL E G H51199614851Seckel syndrome 7614851C3553870OMIM187614906608684
HP:0002750HP:0002750Delayed skeletal maturation1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA143767928862608667
HP:0002750HP:0002750Delayed skeletal maturation1NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM143767928862608667
HP:0002750HP:0002750Delayed skeletal maturation1NR5A1 CL E G H251624346,XX gonadal dysgenesisC0685837ORPHA1189797983184757
HP:0002750HP:0002750Delayed skeletal maturation1NRAS CL E G H4893648ORPHA1141347989164790
HP:0002750HP:0002750Delayed skeletal maturation1NSD1 CL E G H64324228415ORPHA152580314234606681
HP:0002750HP:0002750Delayed skeletal maturation1NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM11424512766602952
HP:0002750HP:0002750Delayed skeletal maturation1NSD2 CL E G H7468280Halal Setton Wang syndromeORPHA11424512766602952
HP:0002750HP:0002750Delayed skeletal maturation1NSMF CL E G H26012432ArbovirosisORPHA197929843608137
HP:0002750HP:0002750Delayed skeletal maturation1NSUN2 CL E G H54888235ORPHA1720525994610916
HP:0002750HP:0002750Delayed skeletal maturation1NUP107 CL E G H5712224346,XX gonadal dysgenesisC0685837ORPHA1122329914607617
HP:0002750HP:0002750Delayed skeletal maturation1OBSL1 CL E G H233632616ORPHA13519229092610991
HP:0002750HP:0002750Delayed skeletal maturation1ORC1 CL E G H49982554ORPHA112658487601902
HP:0002750HP:0002750Delayed skeletal maturation1ORC1 CL E G H4998224690Meier-Gorlin syndrome 1224690CN030358OMIM112658487601902
HP:0002750HP:0002750Delayed skeletal maturation1ORC4 CL E G H50002554ORPHA16728490603056
HP:0002750HP:0002750Delayed skeletal maturation1ORC4 CL E G H5000613800Meier-Gorlin syndrome 2613800C3151097OMIM16728490603056
HP:0002750HP:0002750Delayed skeletal maturation1ORC6 CL E G H235942554ORPHA166717151607213
HP:0002750HP:0002750Delayed skeletal maturation1ORC6 CL E G H23594613803Meier-Gorlin syndrome 3613803C3151113OMIM166717151607213
HP:0002750HP:0002750Delayed skeletal maturation1PAM16 CL E G H51025613320Spondylometaphyseal dysplasia, megarbane-dagher-melki type613320C2750075OMIM123529679614336
HP:0002750HP:0002750Delayed skeletal maturation1PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA110238615167411
HP:0002750HP:0002750Delayed skeletal maturation1PAX8 CL E G H7849218700Thyroid dysgenesis218700C1563716OMIM151778622167415
HP:0002750HP:0002750Delayed skeletal maturation1PCNT CL E G H5116808Baker Vinters syndromeORPHA18871316068605925
HP:0002750HP:0002750Delayed skeletal maturation1PCNT CL E G H51162637HemimegalencephalyORPHA18871316068605925
HP:0002750HP:0002750Delayed skeletal maturation1PCNT CL E G H5116210720Microcephalic osteodysplastic primordial dwarfism type 2210720C0432246OMIM18871316068605925
HP:0002750HP:0002750Delayed skeletal maturation1PDGFRB CL E G H5159601812Premature aging syndrome, Penttinen type601812C1866182OMIM124738804173410
HP:0002750HP:0002750Delayed skeletal maturation1PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM11403398850602136
HP:0002750HP:0002750Delayed skeletal maturation1PIGT CL E G H51604615398Multiple congenital anomalies-hypotonia-seizures syndrome 3615398C3809356OMIM1124414938610272
HP:0002750HP:0002750Delayed skeletal maturation1PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM129968979171833
HP:0002750HP:0002750Delayed skeletal maturation1PLK4 CL E G H10733808Baker Vinters syndromeORPHA163611397605031
HP:0002750HP:0002750Delayed skeletal maturation1POP1 CL E G H10940617396Anauxetic dysplasia 2617396C4479357OMIM173330129602486
HP:0002750HP:0002750Delayed skeletal maturation1POR CL E G H544795699ORPHA1921389208124015
HP:0002750HP:0002750Delayed skeletal maturation1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA154719236601487
HP:0002750HP:0002750Delayed skeletal maturation1PPP1CB CL E G H55002701Noonan syndrome-like disorder with loose anagen hairC3501846ORPHA112329282600590
HP:0002750HP:0002750Delayed skeletal maturation1PPP1CB CL E G H5500617506Noonan syndrome-like disorder with loose anagen hair 2617506C4479577OMIM112329282600590
HP:0002750HP:0002750Delayed skeletal maturation1PROK2 CL E G H60675432ArbovirosisORPHA1212818455607002
HP:0002750HP:0002750Delayed skeletal maturation1PROKR2 CL E G H128674432ArbovirosisORPHA1836515836607123
HP:0002750HP:0002750Delayed skeletal maturation1PSMC3IP CL E G H2989324346,XX gonadal dysgenesisC0685837ORPHA171517928608665
HP:0002750HP:0002750Delayed skeletal maturation1PTDSS1 CL E G H97912658ORPHA17359587612792
HP:0002750HP:0002750Delayed skeletal maturation1PTDSS1 CL E G H9791151050Lenz-Majewski hyperostosis syndrome151050C0432269OMIM17359587612792
HP:0002750HP:0002750Delayed skeletal maturation1PTPN11 CL E G H5781648ORPHA11433809644176876
HP:0002750HP:0002750Delayed skeletal maturation1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA1131089811606462
HP:0002750HP:0002750Delayed skeletal maturation1RAF1 CL E G H5894648ORPHA1544049829164760
HP:0002750HP:0002750Delayed skeletal maturation1RASA2 CL E G H5922648ORPHA13309872601589
HP:0002750HP:0002750Delayed skeletal maturation1RBBP8 CL E G H5932808Baker Vinters syndromeORPHA161219891604124
HP:0002750HP:0002750Delayed skeletal maturation1RIT1 CL E G H6016648ORPHA1267910023609591
HP:0002750HP:0002750Delayed skeletal maturation1RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA1243834016601428
HP:0002750HP:0002750Delayed skeletal maturation1RNU4ATAC CL E G H100151683210710Osteodysplastic primordial dwarfism, type 1210710C1859452OMIM1243834016601428
HP:0002750HP:0002750Delayed skeletal maturation1ROR2 CL E G H4920268310Robinow syndrome, autosomal recessive268310C1849334OMIM14017610257602337
HP:0002750HP:0002750Delayed skeletal maturation1RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM117127510432300075
HP:0002750HP:0002750Delayed skeletal maturation1RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA117127510432300075
HP:0002750HP:0002750Delayed skeletal maturation1RRAS CL E G H6237648ORPHA124810447165090
HP:0002750HP:0002750Delayed skeletal maturation1RSPRY1 CL E G H89970616723Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type616723C4225232OMIM142429420616585
HP:0002750HP:0002750Delayed skeletal maturation1SBDS CL E G H51119811Balo diseaseORPHA1905519440607444
HP:0002750HP:0002750Delayed skeletal maturation1SBDS CL E G H51119260400Shwachman syndrome260400C0272170OMIM1905519440607444
HP:0002750HP:0002750Delayed skeletal maturation1SCARB2 CL E G H95077259ORPHA1271881665602257
HP:0002750HP:0002750Delayed skeletal maturation1SECISBP2 CL E G H79048609698Thyroid hormone metabolism, abnormal609698C1864761OMIM1153630972607693
HP:0002750HP:0002750Delayed skeletal maturation1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA13813425566615743
HP:0002750HP:0002750Delayed skeletal maturation1SHOC2 CL E G H80362701Noonan syndrome-like disorder with loose anagen hairC3501846ORPHA1414115454602775
HP:0002750HP:0002750Delayed skeletal maturation1SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM122820662608744
HP:0002750HP:0002750Delayed skeletal maturation1SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM16716111065603593
HP:0002750HP:0002750Delayed skeletal maturation1SMARCA4 CL E G H6597614609Mental retardation, autosomal dominant 16614609C3553249OMIM157172711100603254
HP:0002750HP:0002750Delayed skeletal maturation1SMARCB1 CL E G H6598614608Mental retardation, autosomal dominant 15614608C3553248OMIM111934211103601607
HP:0002750HP:0002750Delayed skeletal maturation1SMC1A CL E G H8243319182ORPHA110035011111300040
HP:0002750HP:0002750Delayed skeletal maturation1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA110035011111300040
HP:0002750HP:0002750Delayed skeletal maturation1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA1281582468606062
HP:0002750HP:0002750Delayed skeletal maturation1SOS1 CL E G H6654648ORPHA17551511187182530
HP:0002750HP:0002750Delayed skeletal maturation1SOS2 CL E G H6655648ORPHA1621211188601247
HP:0002750HP:0002750Delayed skeletal maturation1SPIDR CL E G H2351424346,XX gonadal dysgenesisC0685837ORPHA114528971615384
HP:0002750HP:0002750Delayed skeletal maturation1SPRTN CL E G H83932616200Ruijs-Aalfs syndrome616200C4015461OMIM132925356616086
HP:0002750HP:0002750Delayed skeletal maturation1SPRY4 CL E G H81848432ArbovirosisORPHA1112315533607984
HP:0002750HP:0002750Delayed skeletal maturation1SRCAP CL E G H108472044Ectodermal dysplasia Berlin typeORPHA14419016974611421
HP:0002750HP:0002750Delayed skeletal maturation1SRCAP CL E G H10847136140Floating-Harbor syndrome136140C0729582OMIM14419016974611421
HP:0002750HP:0002750Delayed skeletal maturation1SRP54 CL E G H6729811Balo diseaseORPHA132411301604857
HP:0002750HP:0002750Delayed skeletal maturation1SRP54 CL E G H6729260400Shwachman syndrome260400C0272170OMIM132411301604857
HP:0002750HP:0002750Delayed skeletal maturation1STAT1 CL E G H6772391487ORPHA113015211362600555
HP:0002750HP:0002750Delayed skeletal maturation1TAB2 CL E G H23118228410ORPHA1334317075605101
HP:0002750HP:0002750Delayed skeletal maturation1TAC3 CL E G H6866432ArbovirosisORPHA1101611521162330
HP:0002750HP:0002750Delayed skeletal maturation1TACR3 CL E G H6870432ArbovirosisORPHA1375911528162332
HP:0002750HP:0002750Delayed skeletal maturation1TAF13 CL E G H6884617432Mental retardation, autosomal recessive 60617432C4479476OMIM142611546600774
HP:0002750HP:0002750Delayed skeletal maturation1TBCE CL E G H690593324ORPHA1812111582604934
HP:0002750HP:0002750Delayed skeletal maturation1TBCE CL E G H6905241410Hypoparathyroidism retardation dysmorphism syndrome241410C1855840OMIM1812111582604934
HP:0002750HP:0002750Delayed skeletal maturation1TBCE CL E G H6905244460Kenny-Caffey syndrome type 1244460C1855648OMIM1812111582604934
HP:0002750HP:0002750Delayed skeletal maturation1TBCE CL E G H69052323Triple-Negative Breast Cancer FindingC2348819ORPHA1812111582604934
HP:0002750HP:0002750Delayed skeletal maturation1THRA CL E G H7067614450Hypothyroidism, congenital, nongoitrous, 6614450C3280817OMIM1142211796190120
HP:0002750HP:0002750Delayed skeletal maturation1THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA117122411799190160
HP:0002750HP:0002750Delayed skeletal maturation1TMEM67 CL E G H91147602152RHYNS syndrome602152C1865794OMIM117426128396609884
HP:0002750HP:0002750Delayed skeletal maturation1TRAIP CL E G H10293808Baker Vinters syndromeORPHA121330764605958
HP:0002750HP:0002750Delayed skeletal maturation1TRH CL E G H7200275120Hypothalamic hypothyroidism275120C0220998OMIM132012298613879
HP:0002750HP:0002750Delayed skeletal maturation1TRPS1 CL E G H7227502Acromegaloid hypertrichosis syndromeORPHA114227212340604386
HP:0002750HP:0002750Delayed skeletal maturation1TRPS1 CL E G H7227190350Trichorhinophalangeal dysplasia type I190350C0432233OMIM114227212340604386
HP:0002750HP:0002750Delayed skeletal maturation1TRPS1 CL E G H7227190351Trichorhinophalangeal syndrome type 3190351C1860823OMIM114227212340604386
HP:0002750HP:0002750Delayed skeletal maturation1TRPV4 CL E G H5934193314ORPHA18239618083605427
HP:0002750HP:0002750Delayed skeletal maturation1TRPV4 CL E G H59341184252Spondylometaphyseal dysplasia, Kozlowski type184252C0265280OMIM18239618083605427
HP:0002750HP:0002750Delayed skeletal maturation1UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA1714516808605981
HP:0002750HP:0002750Delayed skeletal maturation1UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM1714516808605981
HP:0002750HP:0002750Delayed skeletal maturation1WDR11 CL E G H55717432ArbovirosisORPHA1184613831606417
HP:0002750HP:0002750Delayed skeletal maturation1WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM1127640
HP:0002750HP:0002750Delayed skeletal maturation1WNT5A CL E G H7474180700Robinow syndrome180700C0265205OMIM11111212784164975
HP:0002750HP:0002750Delayed skeletal maturation1ZBTB16 CL E G H7704612447Skeletal defects, genital hypoplasia, and mental retardation612447C2676231OMIM121112930176797
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002750HP:0002750Delayed skeletal maturation0AGA CL E G H17593ORPHA038183318613228
HP:0002750HP:0002750Delayed skeletal maturation0ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA01913046211300836
HP:0002750HP:0002750Delayed skeletal maturation0B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM01325923606374
HP:0002750HP:0002750Delayed skeletal maturation0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA05147961605681
HP:0002750HP:0002750Delayed skeletal maturation0CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA012626821616031
HP:0002750HP:0002750Delayed skeletal maturation0CEP152 CL E G H22995613823Seckel syndrome 5613823C3151187OMIM02019629298613529
HP:0002750HP:0002750Delayed skeletal maturation0CEP57 CL E G H9702614114Mosaic variegated aneuploidy syndrome 2614114C3279843OMIM057530794607951
HP:0002750HP:0002750Delayed skeletal maturation0CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA088490520626608892
HP:0002750HP:0002750Delayed skeletal maturation0CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM0391911971603799
HP:0002750HP:0002750Delayed skeletal maturation0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA011532586603432
HP:0002750HP:0002750Delayed skeletal maturation0DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA0411002701120470
HP:0002750HP:0002750Delayed skeletal maturation0DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA017432718600811
HP:0002750HP:0002750Delayed skeletal maturation0DMRT3 CL E G H58524251510ORPHA0116513909614754
HP:0002750HP:0002750Delayed skeletal maturation0DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA05143072602748
HP:0002750HP:0002750Delayed skeletal maturation0DYNC2LI1 CL E G H51626289ORPHA01412624595617083
HP:0002750HP:0002750Delayed skeletal maturation0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA01274323327130160
HP:0002750HP:0002750Delayed skeletal maturation0ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA01081383434126340
HP:0002750HP:0002750Delayed skeletal maturation0ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA020733435133510
HP:0002750HP:0002750Delayed skeletal maturation0ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA0722213436133520
HP:0002750HP:0002750Delayed skeletal maturation0ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA0591923437133530
HP:0002750HP:0002750Delayed skeletal maturation0EVC CL E G H2121289ORPHA0844513497604831
HP:0002750HP:0002750Delayed skeletal maturation0EVC2 CL E G H132884289ORPHA07639219747607261
HP:0002750HP:0002750Delayed skeletal maturation0FARSB CL E G H10056613658Rajab syndrome613658C3150910OMIM043517800609690
HP:0002750HP:0002750Delayed skeletal maturation0FBN1 CL E G H2200969Brachydactyly mesomelia mental retardation heart defectsORPHA0272131543603134797
HP:0002750HP:0002750Delayed skeletal maturation0FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA032322788613301
HP:0002750HP:0002750Delayed skeletal maturation0FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA05733673603725
HP:0002750HP:0002750Delayed skeletal maturation0FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA041453686600483
HP:0002750HP:0002750Delayed skeletal maturation0FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA02652733688136350
HP:0002750HP:0002750Delayed skeletal maturation0FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA07283762604808
HP:0002750HP:0002750Delayed skeletal maturation0GATA4 CL E G H2626251510ORPHA01712584173600576
HP:0002750HP:0002750Delayed skeletal maturation0GDF5 CL E G H820063442ORPHA059694220601146
HP:0002750HP:0002750Delayed skeletal maturation0GDF5 CL E G H8200113100Type C brachydactyly113100C1862103OMIM059694220601146
HP:0002750HP:0002750Delayed skeletal maturation0GHR CL E G H2690615925Short stature, idiopathic, autosomal615925C1858656OMIM01211324263600946
HP:0002750HP:0002750Delayed skeletal maturation0GHSR CL E G H2693615925Short stature, idiopathic, autosomal615925C1858656OMIM015654267601898
HP:0002750HP:0002750Delayed skeletal maturation0GJB2 CL E G H2706477ORPHA04103424284121011
HP:0002750HP:0002750Delayed skeletal maturation0GJB6 CL E G H10804477ORPHA0341274288604418
HP:0002750HP:0002750Delayed skeletal maturation0GLI1 CL E G H2735289ORPHA011144317165220
HP:0002750HP:0002750Delayed skeletal maturation0GLI2 CL E G H273695494ORPHA0882524318165230
HP:0002750HP:0002750Delayed skeletal maturation0GMNN CL E G H51053616835Meier-gorlin syndrome 6616835C4225188OMIM031317493602842
HP:0002750HP:0002750Delayed skeletal maturation0GTF2E2 CL E G H2961616943Trichothiodystrophy 6, nonphotosensitive616943C4310785OMIM02614651189964
HP:0002750HP:0002750Delayed skeletal maturation0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA011524659601679
HP:0002750HP:0002750Delayed skeletal maturation0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA061544661604318
HP:0002750HP:0002750Delayed skeletal maturation0HESX1 CL E G H882095494ORPHA027384877601802
HP:0002750HP:0002750Delayed skeletal maturation0HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA027384877601802
HP:0002750HP:0002750Delayed skeletal maturation0HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA08285201604846
HP:0002750HP:0002750Delayed skeletal maturation0HSPG2 CL E G H3339800ORPHA0675075273142461
HP:0002750HP:0002750Delayed skeletal maturation0IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA0142217616606807
HP:0002750HP:0002750Delayed skeletal maturation0KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA039584510604161
HP:0002750HP:0002750Delayed skeletal maturation0KMT2A CL E G H4297605130Wiedemann-Steiner syndrome605130C1854630OMIM01271967132159555
HP:0002750HP:0002750Delayed skeletal maturation0LHX4 CL E G H8988495494ORPHA0238221734602146
HP:0002750HP:0002750Delayed skeletal maturation0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA071506613601329
HP:0002750HP:0002750Delayed skeletal maturation0LTBP3 CL E G H4054969Brachydactyly mesomelia mental retardation heart defectsORPHA013506716602090
HP:0002750HP:0002750Delayed skeletal maturation0MALT1 CL E G H10892615468Immunodeficiency 12615468C3809583OMIM071066819604860
HP:0002750HP:0002750Delayed skeletal maturation0MAP3K1 CL E G H4214251510ORPHA033706848600982
HP:0002750HP:0002750Delayed skeletal maturation0MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA02618815455300294
HP:0002750HP:0002750Delayed skeletal maturation0MT-ATP8 CL E G H4509480ORPHA07415516070
HP:0002750HP:0002750Delayed skeletal maturation0MT-CO1 CL E G H4512550ORPHA07419516030
HP:0002750HP:0002750Delayed skeletal maturation0MT-CO2 CL E G H4513550ORPHA07421516040
HP:0002750HP:0002750Delayed skeletal maturation0MT-CO3 CL E G H4514550ORPHA07422516050
HP:0002750HP:0002750Delayed skeletal maturation0MT-ND1 CL E G H4535550ORPHA07455516000
HP:0002750HP:0002750Delayed skeletal maturation0MT-ND4 CL E G H4538550ORPHA07459516003
HP:0002750HP:0002750Delayed skeletal maturation0MT-ND5 CL E G H4540550ORPHA07461516005
HP:0002750HP:0002750Delayed skeletal maturation0MT-ND6 CL E G H4541550ORPHA07462516006
HP:0002750HP:0002750Delayed skeletal maturation0MT-TF CL E G H4558550ORPHA07481590070
HP:0002750HP:0002750Delayed skeletal maturation0MT-TH CL E G H4564550ORPHA07487590040
HP:0002750HP:0002750Delayed skeletal maturation0MT-TL1 CL E G H4567550ORPHA07490590050
HP:0002750HP:0002750Delayed skeletal maturation0MT-TL1 CL E G H4567480ORPHA07490590050
HP:0002750HP:0002750Delayed skeletal maturation0MT-TQ CL E G H4572550ORPHA07495590030
HP:0002750HP:0002750Delayed skeletal maturation0MT-TS1 CL E G H4574550ORPHA07497590080
HP:0002750HP:0002750Delayed skeletal maturation0MT-TS2 CL E G H4575550ORPHA07498590085
HP:0002750HP:0002750Delayed skeletal maturation0MT-TW CL E G H4578550ORPHA07501590095
HP:0002750HP:0002750Delayed skeletal maturation0NBAS CL E G H51594614800Short stature, optic nerve atrophy, and Pelger-Huet anomaly614800C3541319OMIM0447515625608025
HP:0002750HP:0002750Delayed skeletal maturation0NPR2 CL E G H4882616255Short stature with nonspecific skeletal abnormalities616255C4225399OMIM0761437944108961
HP:0002750HP:0002750Delayed skeletal maturation0NR0B1 CL E G H190251510ORPHA02552477960300473
HP:0002750HP:0002750Delayed skeletal maturation0NR5A1 CL E G H2516251510ORPHA0189797983184757
HP:0002750HP:0002750Delayed skeletal maturation0NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA097929843608137
HP:0002750HP:0002750Delayed skeletal maturation0OTX2 CL E G H501595494ORPHA078648522600037
HP:0002750HP:0002750Delayed skeletal maturation0PCSK1 CL E G H512271528ORPHA049918743162150
HP:0002750HP:0002750Delayed skeletal maturation0PEX1 CL E G H51893220ORPHA01403398850602136
HP:0002750HP:0002750Delayed skeletal maturation0PEX6 CL E G H51903220ORPHA01092578859601498
HP:0002750HP:0002750Delayed skeletal maturation0POMC CL E G H544371526ORPHA042619201176830
HP:0002750HP:0002750Delayed skeletal maturation0POU1F1 CL E G H544995494ORPHA046649210173110
HP:0002750HP:0002750Delayed skeletal maturation0PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM051614951613257
HP:0002750HP:0002750Delayed skeletal maturation0PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA0212818455607002
HP:0002750HP:0002750Delayed skeletal maturation0PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA0836515836607123
HP:0002750HP:0002750Delayed skeletal maturation0PROP1 CL E G H562695494ORPHA0421199455601538
HP:0002750HP:0002750Delayed skeletal maturation0PROP1 CL E G H562690695ORPHA0421199455601538
HP:0002750HP:0002750Delayed skeletal maturation0PTEN CL E G H5728109Bannayan-Riley-Ruvalcaba syndromeC0265326ORPHA065816299588601728
HP:0002750HP:0002750Delayed skeletal maturation0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA041489970600404
HP:0002750HP:0002750Delayed skeletal maturation0RMRP CL E G H6023175ORPHA012330410031157660
HP:0002750HP:0002750Delayed skeletal maturation0RNU4ATAC CL E G H1001516831824Devriendt Legius Fryns syndromeORPHA0243834016601428
HP:0002750HP:0002750Delayed skeletal maturation0RRM2B CL E G H50484480ORPHA04318117296604712
HP:0002750HP:0002750Delayed skeletal maturation0SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA0314910723603961
HP:0002750HP:0002750Delayed skeletal maturation0SLC29A3 CL E G H55315168569ORPHA02613023096612373
HP:0002750HP:0002750Delayed skeletal maturation0SMARCA2 CL E G H65953051ORPHA07834311098600014
HP:0002750HP:0002750Delayed skeletal maturation0SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA015113911190602229
HP:0002750HP:0002750Delayed skeletal maturation0SOX3 CL E G H665890695ORPHA02820611199313430
HP:0002750HP:0002750Delayed skeletal maturation0SOX9 CL E G H6662251510ORPHA014916311204608160
HP:0002750HP:0002750Delayed skeletal maturation0SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA0112315533607984
HP:0002750HP:0002750Delayed skeletal maturation0SRY CL E G H67361772ORPHA01098511311480000
HP:0002750HP:0002750Delayed skeletal maturation0SRY CL E G H6736251510ORPHA01098511311480000
HP:0002750HP:0002750Delayed skeletal maturation0TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA0375911528162332
HP:0002750HP:0002750Delayed skeletal maturation0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA014311586605842
HP:0002750HP:0002750Delayed skeletal maturation0VAMP7 CL E G H6845251510ORPHA0212011486300053
HP:0002750HP:0002750Delayed skeletal maturation0WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA0184613831606417
HP:0002750HP:0002750Delayed skeletal maturation0WT1 CL E G H7490251510ORPHA018441212796607102
HP:0002750HP:0002750Delayed skeletal maturation0WWOX CL E G H51741251510ORPHA05046012799605131
HP:0002750HP:0002750Delayed skeletal maturation0XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA05112012814611153
HP:0002750HP:0002750Delayed skeletal maturation0XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA010019912816613208
HP:0002750HP:0002750Delayed skeletal maturation0ZFPM2 CL E G H23414251510ORPHA05210616700603693
HP:0002750HP:0002750Delayed skeletal maturation1AGA CL E G H17593ORPHA038183318613228
HP:0002750HP:0002750Delayed skeletal maturation1ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA01913046211300836
HP:0002750HP:0002750Delayed skeletal maturation1B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM01325923606374
HP:0002750HP:0002750Delayed skeletal maturation1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA05147961605681
HP:0002750HP:0002750Delayed skeletal maturation1CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA012626821616031
HP:0002750HP:0002750Delayed skeletal maturation1CEP152 CL E G H22995613823Seckel syndrome 5613823C3151187OMIM02019629298613529
HP:0002750HP:0002750Delayed skeletal maturation1CEP57 CL E G H9702614114Mosaic variegated aneuploidy syndrome 2614114C3279843OMIM057530794607951
HP:0002750HP:0002750Delayed skeletal maturation1CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA088490520626608892
HP:0002750HP:0002750Delayed skeletal maturation1CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM0391911971603799
HP:0002750HP:0002750Delayed skeletal maturation1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA011532586603432
HP:0002750HP:0002750Delayed skeletal maturation1DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA0411002701120470
HP:0002750HP:0002750Delayed skeletal maturation1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA017432718600811
HP:0002750HP:0002750Delayed skeletal maturation1DMRT3 CL E G H58524251510ORPHA0116513909614754
HP:0002750HP:0002750Delayed skeletal maturation1DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA05143072602748
HP:0002750HP:0002750Delayed skeletal maturation1DYNC2LI1 CL E G H51626289ORPHA01412624595617083
HP:0002750HP:0002750Delayed skeletal maturation1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA01274323327130160
HP:0002750HP:0002750Delayed skeletal maturation1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA01081383434126340
HP:0002750HP:0002750Delayed skeletal maturation1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA020733435133510
HP:0002750HP:0002750Delayed skeletal maturation1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA0722213436133520
HP:0002750HP:0002750Delayed skeletal maturation1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA0591923437133530
HP:0002750HP:0002750Delayed skeletal maturation1EVC CL E G H2121289ORPHA0844513497604831
HP:0002750HP:0002750Delayed skeletal maturation1EVC2 CL E G H132884289ORPHA07639219747607261
HP:0002750HP:0002750Delayed skeletal maturation1FARSB CL E G H10056613658Rajab syndrome613658C3150910OMIM043517800609690
HP:0002750HP:0002750Delayed skeletal maturation1FBN1 CL E G H2200969Brachydactyly mesomelia mental retardation heart defectsORPHA0272131543603134797
HP:0002750HP:0002750Delayed skeletal maturation1FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA032322788613301
HP:0002750HP:0002750Delayed skeletal maturation1FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA05733673603725
HP:0002750HP:0002750Delayed skeletal maturation1FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA041453686600483
HP:0002750HP:0002750Delayed skeletal maturation1FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA02652733688136350
HP:0002750HP:0002750Delayed skeletal maturation1FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA07283762604808
HP:0002750HP:0002750Delayed skeletal maturation1GATA4 CL E G H2626251510ORPHA01712584173600576
HP:0002750HP:0002750Delayed skeletal maturation1GDF5 CL E G H820063442ORPHA059694220601146
HP:0002750HP:0002750Delayed skeletal maturation1GDF5 CL E G H8200113100Type C brachydactyly113100C1862103OMIM059694220601146
HP:0002750HP:0002750Delayed skeletal maturation1GHR CL E G H2690615925Short stature, idiopathic, autosomal615925C1858656OMIM01211324263600946
HP:0002750HP:0002750Delayed skeletal maturation1GHSR CL E G H2693615925Short stature, idiopathic, autosomal615925C1858656OMIM015654267601898
HP:0002750HP:0002750Delayed skeletal maturation1GJB2 CL E G H2706477ORPHA04103424284121011
HP:0002750HP:0002750Delayed skeletal maturation1GJB6 CL E G H10804477ORPHA0341274288604418
HP:0002750HP:0002750Delayed skeletal maturation1GLI1 CL E G H2735289ORPHA011144317165220
HP:0002750HP:0002750Delayed skeletal maturation1GLI2 CL E G H273695494ORPHA0882524318165230
HP:0002750HP:0002750Delayed skeletal maturation1GMNN CL E G H51053616835Meier-gorlin syndrome 6616835C4225188OMIM031317493602842
HP:0002750HP:0002750Delayed skeletal maturation1GTF2E2 CL E G H2961616943Trichothiodystrophy 6, nonphotosensitive616943C4310785OMIM02614651189964
HP:0002750HP:0002750Delayed skeletal maturation1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA011524659601679
HP:0002750HP:0002750Delayed skeletal maturation1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA061544661604318
HP:0002750HP:0002750Delayed skeletal maturation1HESX1 CL E G H882095494ORPHA027384877601802
HP:0002750HP:0002750Delayed skeletal maturation1HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA027384877601802
HP:0002750HP:0002750Delayed skeletal maturation1HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA08285201604846
HP:0002750HP:0002750Delayed skeletal maturation1HSPG2 CL E G H3339800ORPHA0675075273142461
HP:0002750HP:0002750Delayed skeletal maturation1IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA0142217616606807
HP:0002750HP:0002750Delayed skeletal maturation1KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA039584510604161
HP:0002750HP:0002750Delayed skeletal maturation1KMT2A CL E G H4297605130Wiedemann-Steiner syndrome605130C1854630OMIM01271967132159555
HP:0002750HP:0002750Delayed skeletal maturation1LHX4 CL E G H8988495494ORPHA0238221734602146
HP:0002750HP:0002750Delayed skeletal maturation1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA071506613601329
HP:0002750HP:0002750Delayed skeletal maturation1LTBP3 CL E G H4054969Brachydactyly mesomelia mental retardation heart defectsORPHA013506716602090
HP:0002750HP:0002750Delayed skeletal maturation1MALT1 CL E G H10892615468Immunodeficiency 12615468C3809583OMIM071066819604860
HP:0002750HP:0002750Delayed skeletal maturation1MAP3K1 CL E G H4214251510ORPHA033706848600982
HP:0002750HP:0002750Delayed skeletal maturation1MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA02618815455300294
HP:0002750HP:0002750Delayed skeletal maturation1MT-ATP8 CL E G H4509480ORPHA07415516070
HP:0002750HP:0002750Delayed skeletal maturation1MT-CO1 CL E G H4512550ORPHA07419516030
HP:0002750HP:0002750Delayed skeletal maturation1MT-CO2 CL E G H4513550ORPHA07421516040
HP:0002750HP:0002750Delayed skeletal maturation1MT-CO3 CL E G H4514550ORPHA07422516050
HP:0002750HP:0002750Delayed skeletal maturation1MT-ND1 CL E G H4535550ORPHA07455516000
HP:0002750HP:0002750Delayed skeletal maturation1MT-ND4 CL E G H4538550ORPHA07459516003
HP:0002750HP:0002750Delayed skeletal maturation1MT-ND5 CL E G H4540550ORPHA07461516005
HP:0002750HP:0002750Delayed skeletal maturation1MT-ND6 CL E G H4541550ORPHA07462516006
HP:0002750HP:0002750Delayed skeletal maturation1MT-TF CL E G H4558550ORPHA07481590070
HP:0002750HP:0002750Delayed skeletal maturation1MT-TH CL E G H4564550ORPHA07487590040
HP:0002750HP:0002750Delayed skeletal maturation1MT-TL1 CL E G H4567480ORPHA07490590050
HP:0002750HP:0002750Delayed skeletal maturation1MT-TL1 CL E G H4567550ORPHA07490590050
HP:0002750HP:0002750Delayed skeletal maturation1MT-TQ CL E G H4572550ORPHA07495590030
HP:0002750HP:0002750Delayed skeletal maturation1MT-TS1 CL E G H4574550ORPHA07497590080
HP:0002750HP:0002750Delayed skeletal maturation1MT-TS2 CL E G H4575550ORPHA07498590085
HP:0002750HP:0002750Delayed skeletal maturation1MT-TW CL E G H4578550ORPHA07501590095
HP:0002750HP:0002750Delayed skeletal maturation1NBAS CL E G H51594614800Short stature, optic nerve atrophy, and Pelger-Huet anomaly614800C3541319OMIM0447515625608025
HP:0002750HP:0002750Delayed skeletal maturation1NPR2 CL E G H4882616255Short stature with nonspecific skeletal abnormalities616255C4225399OMIM0761437944108961
HP:0002750HP:0002750Delayed skeletal maturation1NR0B1 CL E G H190251510ORPHA02552477960300473
HP:0002750HP:0002750Delayed skeletal maturation1NR5A1 CL E G H2516251510ORPHA0189797983184757
HP:0002750HP:0002750Delayed skeletal maturation1NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA097929843608137
HP:0002750HP:0002750Delayed skeletal maturation1OTX2 CL E G H501595494ORPHA078648522600037
HP:0002750HP:0002750Delayed skeletal maturation1PCSK1 CL E G H512271528ORPHA049918743162150
HP:0002750HP:0002750Delayed skeletal maturation1PEX1 CL E G H51893220ORPHA01403398850602136
HP:0002750HP:0002750Delayed skeletal maturation1PEX6 CL E G H51903220ORPHA01092578859601498
HP:0002750HP:0002750Delayed skeletal maturation1POMC CL E G H544371526ORPHA042619201176830
HP:0002750HP:0002750Delayed skeletal maturation1POU1F1 CL E G H544995494ORPHA046649210173110
HP:0002750HP:0002750Delayed skeletal maturation1PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM051614951613257
HP:0002750HP:0002750Delayed skeletal maturation1PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA0212818455607002
HP:0002750HP:0002750Delayed skeletal maturation1PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA0836515836607123
HP:0002750HP:0002750Delayed skeletal maturation1PROP1 CL E G H562695494ORPHA0421199455601538
HP:0002750HP:0002750Delayed skeletal maturation1PROP1 CL E G H562690695ORPHA0421199455601538
HP:0002750HP:0002750Delayed skeletal maturation1PTEN CL E G H5728109Bannayan-Riley-Ruvalcaba syndromeC0265326ORPHA065816299588601728
HP:0002750HP:0002750Delayed skeletal maturation1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA041489970600404
HP:0002750HP:0002750Delayed skeletal maturation1RMRP CL E G H6023175ORPHA012330410031157660
HP:0002750HP:0002750Delayed skeletal maturation1RNU4ATAC CL E G H1001516831824Devriendt Legius Fryns syndromeORPHA0243834016601428
HP:000275