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
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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; 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:

 HPO-Disease-Gene Association for HP:0002750 and all of its descedant HPO terms  

InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameConceptIDSourceHGMD variantsClinVar variants
HP:0002750HP:0002750Delayed skeletal maturation0A2ML1144568648Noonan syndromeORPHA12120
HP:0002750HP:0002750Delayed skeletal maturation0ABCC910060239850Hypertrichotic osteochondrodysplasiaC0795905OMIM37254
HP:0002750HP:0002750Delayed skeletal maturation0ABCC9100601517Hypertrichotic osteochondrodysplasia, Cantu typeORPHA37254
HP:0002750HP:0002750Delayed skeletal maturation0ACAN176608361Spondyloepiphyseal dysplasia, kimberley typeC1842149OMIM2734
HP:0002750HP:0002750Delayed skeletal maturation0AGA175208400AspartylglycosaminuriaC0268225OMIM3776
HP:0002750HP:0002750Delayed skeletal maturation0ALDH18A15832219150Cutis laxa-corneal clouding-oligophrenia syndromeC0268354OMIM2589
HP:0002750HP:0002750Delayed skeletal maturation0ALDH18A15832601162Spastic paraplegia 9C1832669OMIM2589
HP:0002750HP:0002750Delayed skeletal maturation0ANKRD1129123148050KBG syndromeC0220687OMIM89102
HP:0002750HP:0002750Delayed skeletal maturation0ANOS13730432ArbovirosisORPHA17765
HP:0002750HP:0002750Delayed skeletal maturation0ANTXR1841682067GAPO syndromeORPHA98
HP:0002750HP:0002750Delayed skeletal maturation0ANTXR184168230740Odontotrichomelic syndromeC0406723OMIM98
HP:0002750HP:0002750Delayed skeletal maturation0ARID1B57492135900Coffin-Siris syndrome 1CN029606OMIM139219
HP:0002750HP:0002750Delayed skeletal maturation0ATR545808Baker Vinters syndromeORPHA15168
HP:0002750HP:0002750Delayed skeletal maturation0ATR545210600Seckel syndrome 1CN033164OMIM15168
HP:0002750HP:0002750Delayed skeletal maturation0ATRIP84126808Baker Vinters syndromeORPHA21
HP:0002750HP:0002750Delayed skeletal maturation0ATRX546309580Mental retardation-hypotonic facies syndrome X-linked, 1C0796003OMIM152169
HP:0002750HP:0002750Delayed skeletal maturation0BLM641125Bloom syndromeORPHA97314
HP:0002750HP:0002750Delayed skeletal maturation0BMP15921024346,XX gonadal dysgenesisORPHA2216
HP:0002750HP:0002750Delayed skeletal maturation0BRAF673115150Cardiofaciocutaneous syndrome 1CN029449OMIM61276
HP:0002750HP:0002750Delayed skeletal maturation0BRAF673613707LEOPARD syndrome 3C3150971OMIM61276
HP:0002750HP:0002750Delayed skeletal maturation0BRAF673648Noonan syndromeORPHA61276
HP:0002750HP:0002750Delayed skeletal maturation0BTK695307200X-linked agammaglobulinemia with growth hormone deficiencyC0472813OMIM892109
HP:0002750HP:0002750Delayed skeletal maturation0CCBE1147372235510Hennekam lymphangiectasia-lymphedema syndromeC0340834OMIM13147
HP:0002750HP:0002750Delayed skeletal maturation0CCDC88398726163M syndromeORPHA35
HP:0002750HP:0002750Delayed skeletal maturation0CD9610225211750C syndromeC0796095OMIM283
HP:0002750HP:0002750Delayed skeletal maturation0CDC6990613805Meier-Gorlin syndrome 5C3151126OMIM331
HP:0002750HP:0002750Delayed skeletal maturation0CDKN1C1028614732Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomaliesC1846009OMIM81114
HP:0002750HP:0002750Delayed skeletal maturation0CDT181620613804Meier-Gorlin syndrome 4C3151120OMIM850
HP:0002750HP:0002750Delayed skeletal maturation0CENPE1062808Baker Vinters syndromeORPHA420
HP:0002750HP:0002750Delayed skeletal maturation0CENPJ55835808Baker Vinters syndromeORPHA7161
HP:0002750HP:0002750Delayed skeletal maturation0CEP15222995808Baker Vinters syndromeORPHA17146
HP:0002750HP:0002750Delayed skeletal maturation0CHD755636432ArbovirosisORPHA757515
HP:0002750HP:0002750Delayed skeletal maturation0CHST39469143095Spondyloepiphyseal dysplasia with congenital joint dislocationsC1840471OMIM37165
HP:0002750HP:0002750Delayed skeletal maturation0COL2A11280150600Coxa planaC0023234OMIM541284
HP:0002750HP:0002750Delayed skeletal maturation0COL2A1128085198DysspondyloenchondromatosisORPHA541284
HP:0002750HP:0002750Delayed skeletal maturation0COL2A112802380Freiberg's diseaseORPHA541284
HP:0002750HP:0002750Delayed skeletal maturation0COMP1311750PseudoachondroplasiaORPHA18289
HP:0002750HP:0002750Delayed skeletal maturation0COX4I284701612714Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosisC2675184OMIM113
HP:0002750HP:0002750Delayed skeletal maturation0CPLX1108151941904p partial monosomy syndromeC1956097OMIM11
HP:0002750HP:0002750Delayed skeletal maturation0CREBBP1387180849Rubinstein-Taybi syndromeC0035934OMIM335291
HP:0002750HP:0002750Delayed skeletal maturation0CTBP114871941904p partial monosomy syndromeC1956097OMIM12
HP:0002750HP:0002750Delayed skeletal maturation0CTNS1497219800Nephropathic cystinosisC0010690OMIM141178
HP:0002750HP:0002750Delayed skeletal maturation0CUL7982026163M syndromeORPHA70127
HP:0002750HP:0002750Delayed skeletal maturation0CUL79820273750Three M syndrome 1C1848862OMIM70127
HP:0002750HP:0002750Delayed skeletal maturation0CYB5A15289079646,XY disorder of sex development due to isolated 17,20-lyase deficiencyORPHA62
HP:0002750HP:0002750Delayed skeletal maturation0CYP11A1158316855846,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency syndromeORPHA2731
HP:0002750HP:0002750Delayed skeletal maturation0CYP11A11583289548Inherited isolated adrenal insufficiency due to CYP11A1 deficiencyORPHA2731
HP:0002750HP:0002750Delayed skeletal maturation0CYP11B1158490795Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiencyORPHA143112
HP:0002750HP:0002750Delayed skeletal maturation0CYP17A115869079646,XY disorder of sex development due to isolated 17,20-lyase deficiencyORPHA12353
HP:0002750HP:0002750Delayed skeletal maturation0CYP17A1158690793Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiencyORPHA12353
HP:0002750HP:0002750Delayed skeletal maturation0CYP19A11588613546Aromatase deficiencyC0878680OMIM7260
HP:0002750HP:0002750Delayed skeletal maturation0CYP19A1158891Malignant melanoma, childhoodORPHA7260
HP:0002750HP:0002750Delayed skeletal maturation0DPP61804616311Mental retardation, autosomal dominant 33C4225375OMIM1018
HP:0002750HP:0002750Delayed skeletal maturation0DUSP61848432ArbovirosisORPHA54
HP:0002750HP:0002750Delayed skeletal maturation0DVL11855180700Robinow syndromeC0265205OMIM1314
HP:0002750HP:0002750Delayed skeletal maturation0EIF2AK394511667Dandy-Walker malformation with facial hemangiomaORPHA7465
HP:0002750HP:0002750Delayed skeletal maturation0EP3002033180849Rubinstein-Taybi syndromeC0035934OMIM76250
HP:0002750HP:0002750Delayed skeletal maturation0ESR12099615363Estrogen resistanceC1851467OMIM3413
HP:0002750HP:0002750Delayed skeletal maturation0EXT12131502Acromegaloid hypertrichosis syndromeORPHA48296
HP:0002750HP:0002750Delayed skeletal maturation0EYA121382792Hyperbilirubinemia type 1ORPHA187135
HP:0002750HP:0002750Delayed skeletal maturation0FBN12200102370Acromicric dysplasiaC0265287OMIM20671361
HP:0002750HP:0002750Delayed skeletal maturation0FBN12200614185Geleophysic dysplasia 2C3280054OMIM20671361
HP:0002750HP:0002750Delayed skeletal maturation0FGF178822432ArbovirosisORPHA33
HP:0002750HP:0002750Delayed skeletal maturation0FGF82253432ArbovirosisORPHA2817
HP:0002750HP:0002750Delayed skeletal maturation0FGFR12260432ArbovirosisORPHA236172
HP:0002750HP:0002750Delayed skeletal maturation0FGFR122602645Osteoglophonic dwarfismORPHA236172
HP:0002750HP:0002750Delayed skeletal maturation0FGFRL1538341941904p partial monosomy syndromeC1956097OMIM7
HP:0002750HP:0002750Delayed skeletal maturation0FLNB2317272460Spondylocarpotarsal synostosis syndromeC1848934OMIM100233
HP:0002750HP:0002750Delayed skeletal maturation0FMR12332261483Xq27.3q28 duplication syndromeORPHA8130
HP:0002750HP:0002750Delayed skeletal maturation0FSHB2488229070Follicle-stimulating hormone deficiency, isolatedC1856716OMIM723
HP:0002750HP:0002750Delayed skeletal maturation0FSHB248852901Isolated follicle stimulating hormone deficiencyORPHA723
HP:0002750HP:0002750Delayed skeletal maturation0FSHR249224346,XX gonadal dysgenesisORPHA3450
HP:0002750HP:0002750Delayed skeletal maturation0GBA262977259Gaucher disease type 1ORPHA460108
HP:0002750HP:0002750Delayed skeletal maturation0GBA262977261Gaucher disease type 3ORPHA460108
HP:0002750HP:0002750Delayed skeletal maturation0GH12688612781Isolated growth hormone deficiency type 1BC2748571OMIM9950
HP:0002750HP:0002750Delayed skeletal maturation0GH12688262650Kowarski syndromeC1849779OMIM9950
HP:0002750HP:0002750Delayed skeletal maturation0GHR2690633Laron syndromeORPHA9998
HP:0002750HP:0002750Delayed skeletal maturation0GHR2690262500Laron-type isolated somatotropin defectC0271568OMIM9998
HP:0002750HP:0002750Delayed skeletal maturation0GHR2690314802Short stature due to partial GHR deficiencyORPHA9998
HP:0002750HP:0002750Delayed skeletal maturation0GHRHR2692612781Isolated growth hormone deficiency type 1BC2748571OMIM4744
HP:0002750HP:0002750Delayed skeletal maturation0GHSR2693314811Short stature due to GHSR deficiencyORPHA1437
HP:0002750HP:0002750Delayed skeletal maturation0GJA12697257850Oculodentodigital dysplasia, autosomal recessiveC2749477OMIM10568
HP:0002750HP:0002750Delayed skeletal maturation0GNRH12796432ArbovirosisORPHA1115
HP:0002750HP:0002750Delayed skeletal maturation0GNRHR2798432ArbovirosisORPHA5592
HP:0002750HP:0002750Delayed skeletal maturation0GPX4287993317Spondylometaphyseal dysplasia, Sedaghatian typeORPHA43
HP:0002750HP:0002750Delayed skeletal maturation0H19283120180860Russell-Silver syndromeC0175693OMIM384
HP:0002750HP:0002750Delayed skeletal maturation0HDAC855869199Cardiac hydatid cysts with intracavitary expansionORPHA4137
HP:0002750HP:0002750Delayed skeletal maturation0HRAS32653071Kallmann syndrome 1C1563719ORPHA28113
HP:0002750HP:0002750Delayed skeletal maturation0HS6ST19394432ArbovirosisORPHA78
HP:0002750HP:0002750Delayed skeletal maturation0HSD17B43295261515Bifunctional peroxisomal enzyme deficiencyC0342870OMIM9598
HP:0002750HP:0002750Delayed skeletal maturation0HSD3B2328490791Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiencyORPHA6334
HP:0002750HP:0002750Delayed skeletal maturation0HSPG23339255800Schwartz Jampel syndrome type 1C0036391OMIM53345
HP:0002750HP:0002750Delayed skeletal maturation0IGF1347973272Growth delay due to insulin-like growth factor type 1 deficiencyORPHA1391
HP:0002750HP:0002750Delayed skeletal maturation0IGF13479608747Insulin-like growth factor I deficiencyC1837475OMIM1391
HP:0002750HP:0002750Delayed skeletal maturation0IGF1R348073273Growth delay due to insulin-like growth factor I resistanceORPHA62268
HP:0002750HP:0002750Delayed skeletal maturation0IGF1R3480270450Insulin-like growth factor 1 resistance toC1849157OMIM62268
HP:0002750HP:0002750Delayed skeletal maturation0IGF23481616489Growth restriction, severe, with distinctive faciesC4225307OMIM69
HP:0002750HP:0002750Delayed skeletal maturation0IGF23481180860Russell-Silver syndromeC0175693OMIM69
HP:0002750HP:0002750Delayed skeletal maturation0IGFALS3483140941Short stature due to primary acid-labile subunit deficiencyORPHA2853
HP:0002750HP:0002750Delayed skeletal maturation0IHH354963446Acrocapitofemoral dysplasiaORPHA2044
HP:0002750HP:0002750Delayed skeletal maturation0INPPL136362746Hoyeraal syndromeORPHA2818
HP:0002750HP:0002750Delayed skeletal maturation0INSR3643508Acroosteolysis dominant typeORPHA179229
HP:0002750HP:0002750Delayed skeletal maturation0INSR3643246200Leprechaunism syndromeC0265344OMIM179229
HP:0002750HP:0002750Delayed skeletal maturation0ITGB636942850Alopecia-intellectual disability syndromeORPHA68
HP:0002750HP:0002750Delayed skeletal maturation0KAT6B23522648Noonan syndromeORPHA54141
HP:0002750HP:0002750Delayed skeletal maturation0KCNJ23759170390Andersen Tawil syndromeC1563715OMIM86193
HP:0002750HP:0002750Delayed skeletal maturation0KCNJ837641517Hypertrichotic osteochondrodysplasia, Cantu typeORPHA623
HP:0002750HP:0002750Delayed skeletal maturation0KISS13814432ArbovirosisORPHA143
HP:0002750HP:0002750Delayed skeletal maturation0KISS13814614842Hypogonadotropic hypogonadism 13 with or without anosmiaC3541462OMIM143
HP:0002750HP:0002750Delayed skeletal maturation0KISS1R84634432ArbovirosisORPHA3614
HP:0002750HP:0002750Delayed skeletal maturation0KISS1R84634614837Hypogonadotropic hypogonadism 8 with or without anosmiaC3553841OMIM3614
HP:0002750HP:0002750Delayed skeletal maturation0KRAS3845648Noonan syndromeORPHA40196
HP:0002750HP:0002750Delayed skeletal maturation0LETM139541941904p partial monosomy syndromeC1956097OMIM32
HP:0002750HP:0002750Delayed skeletal maturation0LETM13954280Halal Setton Wang syndromeORPHA32
HP:0002750HP:0002750Delayed skeletal maturation0LIG43981235Dubowitz syndromeORPHA3988
HP:0002750HP:0002750Delayed skeletal maturation0LONP19361600373CODAS syndromeC1838180OMIM158
HP:0002750HP:0002750Delayed skeletal maturation0LONP193611458CODAS syndromeORPHA158
HP:0002750HP:0002750Delayed skeletal maturation0LTBP34054601216Verloes Bourguignon syndromeC1832594OMIM1012
HP:0002750HP:0002750Delayed skeletal maturation0LZTR18216648Noonan syndromeORPHA6043
HP:0002750HP:0002750Delayed skeletal maturation0MCM9254394616185Ovarian dysgenesis 4C4015409OMIM94
HP:0002750HP:0002750Delayed skeletal maturation0MECP242041762Trisomy Xq28ORPHA960950
HP:0002750HP:0002750Delayed skeletal maturation0MMP1343222501Glucose-6-phosphate translocase deficiencyORPHA952
HP:0002750HP:0002750Delayed skeletal maturation0MMP134322602111Spondyloepimetaphyseal dysplasia, Missouri typeC1865832OMIM952
HP:0002750HP:0002750Delayed skeletal maturation0MVK459829CHARGE associationC0265354ORPHA170150
HP:0002750HP:0002750Delayed skeletal maturation0NELFA7469280Halal Setton Wang syndromeORPHA4
HP:0002750HP:0002750Delayed skeletal maturation0NEU14758812Sialidosis type 1ORPHA5943
HP:0002750HP:0002750Delayed skeletal maturation0NIN51199614851Seckel syndrome 7C3553870OMIM355
HP:0002750HP:0002750Delayed skeletal maturation0NIPBL25836199Cardiac hydatid cysts with intracavitary expansionORPHA409494
HP:0002750HP:0002750Delayed skeletal maturation0NIPBL25836122470Cornelia de Lange syndrome 1CN029798OMIM409494
HP:0002750HP:0002750Delayed skeletal maturation0NR5A1251624346,XX gonadal dysgenesisORPHA16138
HP:0002750HP:0002750Delayed skeletal maturation0NRAS4893648Noonan syndromeORPHA9102
HP:0002750HP:0002750Delayed skeletal maturation0NSD1643242284155q35 microduplication syndromeORPHA468544
HP:0002750HP:0002750Delayed skeletal maturation0NSD274681941904p partial monosomy syndromeC1956097OMIM7118
HP:0002750HP:0002750Delayed skeletal maturation0NSD27468280Halal Setton Wang syndromeORPHA7118
HP:0002750HP:0002750Delayed skeletal maturation0NSMF26012432ArbovirosisORPHA86
HP:0002750HP:0002750Delayed skeletal maturation0NSUN254888235Dubowitz syndromeORPHA784
HP:0002750HP:0002750Delayed skeletal maturation0NUP1075712224346,XX gonadal dysgenesisORPHA105
HP:0002750HP:0002750Delayed skeletal maturation0OBSL12336326163M syndromeORPHA26143
HP:0002750HP:0002750Delayed skeletal maturation0ORC14998224690Meier-Gorlin syndrome 1CN030358OMIM953
HP:0002750HP:0002750Delayed skeletal maturation0ORC45000613800Meier-Gorlin syndrome 2C3151097OMIM521
HP:0002750HP:0002750Delayed skeletal maturation0ORC623594613803Meier-Gorlin syndrome 3C3151113OMIM639
HP:0002750HP:0002750Delayed skeletal maturation0PAM1651025613320Spondylometaphyseal dysplasia, megarbane-dagher-melki typeC2750075OMIM21
HP:0002750HP:0002750Delayed skeletal maturation0PAX150752792Hyperbilirubinemia type 1ORPHA73
HP:0002750HP:0002750Delayed skeletal maturation0PAX87849218700Thyroid agenesisC1563716OMIM3863
HP:0002750HP:0002750Delayed skeletal maturation0PCNT5116808Baker Vinters syndromeORPHA82531
HP:0002750HP:0002750Delayed skeletal maturation0PCNT51162637HemimegalencephalyORPHA82531
HP:0002750HP:0002750Delayed skeletal maturation0PCNT5116210720Microcephalic osteodysplastic primordial dwarfism type 2C0432246OMIM82531
HP:0002750HP:0002750Delayed skeletal maturation0PDGFRB5159601812Penttinen-Aula syndromeC1866182OMIM1128
HP:0002750HP:0002750Delayed skeletal maturation0PEX15189214100Zellweger syndromeC0043459OMIM123169
HP:0002750HP:0002750Delayed skeletal maturation0PIGT51604615398Multiple congenital anomalies-hypotonia-seizures syndrome 3C3809356OMIM612
HP:0002750HP:0002750Delayed skeletal maturation0PIK3R15295269880SHORT syndromeC0878684OMIM2143
HP:0002750HP:0002750Delayed skeletal maturation0PLK410733808Baker Vinters syndromeORPHA511
HP:0002750HP:0002750Delayed skeletal maturation0POR544795699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyORPHA8876
HP:0002750HP:0002750Delayed skeletal maturation0PROK260675432ArbovirosisORPHA209
HP:0002750HP:0002750Delayed skeletal maturation0PROKR2128674432ArbovirosisORPHA5034
HP:0002750HP:0002750Delayed skeletal maturation0PSMC3IP2989324346,XX gonadal dysgenesisORPHA32
HP:0002750HP:0002750Delayed skeletal maturation0PTDSS19791151050Lenz-Majewski hyperostosis syndromeC0432269OMIM56
HP:0002750HP:0002750Delayed skeletal maturation0PTPN115781648Noonan syndromeORPHA133291
HP:0002750HP:0002750Delayed skeletal maturation0RAD215885199Cardiac hydatid cysts with intracavitary expansionORPHA1125
HP:0002750HP:0002750Delayed skeletal maturation0RAF15894648Noonan syndromeORPHA43212
HP:0002750HP:0002750Delayed skeletal maturation0RASA25922648Noonan syndromeORPHA33
HP:0002750HP:0002750Delayed skeletal maturation0RBBP85932808Baker Vinters syndromeORPHA668
HP:0002750HP:0002750Delayed skeletal maturation0RIT16016648Noonan syndromeORPHA2339
HP:0002750HP:0002750Delayed skeletal maturation0RNU4ATAC100151683210710Osteodysplastic primordial dwarfism, type 1C1859452OMIM1815
HP:0002750HP:0002750Delayed skeletal maturation0ROR24920268310Robinow syndrome, autosomal recessiveC1849334OMIM38120
HP:0002750HP:0002750Delayed skeletal maturation0RPS6KA36197303600Coffin-Lowry syndromeC0265252OMIM16365
HP:0002750HP:0002750Delayed skeletal maturation0RPS6KA36197192Karandikar Maria Kamble syndromeORPHA16365
HP:0002750HP:0002750Delayed skeletal maturation0RSPRY189970616723Spondyloepimetaphyseal dysplasia, Faden-Alkuraya typeC4225232OMIM22
HP:0002750HP:0002750Delayed skeletal maturation0SBDS51119811Balo diseaseORPHA8826
HP:0002750HP:0002750Delayed skeletal maturation0SBDS51119260400Shwachman syndromeC0272170OMIM8826
HP:0002750HP:0002750Delayed skeletal maturation0SCARB295077259Gaucher disease type 1ORPHA2377
HP:0002750HP:0002750Delayed skeletal maturation0SECISBP279048609698Thyroid hormone metabolism, abnormalC1864761OMIM133
HP:0002750HP:0002750Delayed skeletal maturation0SHOC280362701Noonan syndrome-like disorder with loose anagen hairORPHA374
HP:0002750HP:0002750Delayed skeletal maturation0SLC7A79056222700Lysinuric protein intoleranceC0268647OMIM66104
HP:0002750HP:0002750Delayed skeletal maturation0SMC1A8243199Cardiac hydatid cysts with intracavitary expansionORPHA67135
HP:0002750HP:0002750Delayed skeletal maturation0SMC39126199Cardiac hydatid cysts with intracavitary expansionORPHA1691
HP:0002750HP:0002750Delayed skeletal maturation0SOS16654648Noonan syndromeORPHA68315
HP:0002750HP:0002750Delayed skeletal maturation0SOS26655648Noonan syndromeORPHA630
HP:0002750HP:0002750Delayed skeletal maturation0SPRTN83932616200Ruijs-Aalfs syndromeC4015461OMIM33
HP:0002750HP:0002750Delayed skeletal maturation0SPRY481848432ArbovirosisORPHA105
HP:0002750HP:0002750Delayed skeletal maturation0SRCAP108472044Ectodermal dysplasia Berlin typeORPHA29138
HP:0002750HP:0002750Delayed skeletal maturation0SRCAP10847136140Floating-Harbor syndromeC0729582OMIM29138
HP:0002750HP:0002750Delayed skeletal maturation0STAT16772391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndromeORPHA11289
HP:0002750HP:0002750Delayed skeletal maturation0TAC36866432ArbovirosisORPHA96
HP:0002750HP:0002750Delayed skeletal maturation0TACR36870432ArbovirosisORPHA3234
HP:0002750HP:0002750Delayed skeletal maturation0TBCE6905241410Hypoparathyroidism retardation dysmorphism syndromeC1855840OMIM752
HP:0002750HP:0002750Delayed skeletal maturation0TBCE6905244460Kenny-Caffey syndrome type 1C1855648OMIM752
HP:0002750HP:0002750Delayed skeletal maturation0TBCE69052323Sanjad-Sakati syndromeORPHA752
HP:0002750HP:0002750Delayed skeletal maturation0THRA7067614450Hypothyroidism, congenital, nongoitrous, 6C3280817OMIM149
HP:0002750HP:0002750Delayed skeletal maturation0THRB70683221Leisti Hollister Rimoin syndromeORPHA154161
HP:0002750HP:0002750Delayed skeletal maturation0TRAIP10293808Baker Vinters syndromeORPHA22
HP:0002750HP:0002750Delayed skeletal maturation0TRH7200275120Hypothalamic hypothyroidismC0220998OMIM25
HP:0002750HP:0002750Delayed skeletal maturation0TRPS17227502Acromegaloid hypertrichosis syndromeORPHA136171
HP:0002750HP:0002750Delayed skeletal maturation0TRPS17227190350Trichorhinophalangeal dysplasia type IC0432233OMIM136171
HP:0002750HP:0002750Delayed skeletal maturation0TRPS17227190351Trichorhinophalangeal syndrome type 3C1860823OMIM136171
HP:0002750HP:0002750Delayed skeletal maturation0TRPV459341184252Spondylometaphyseal dysplasia, Kozlowski typeC0265280OMIM71214
HP:0002750HP:0002750Delayed skeletal maturation0TRPV45934193314Spondylometaphyseal dysplasia, Kozlowski typeORPHA71214
HP:0002750HP:0002750Delayed skeletal maturation0UBR11971312315Fetal warfarin syndromeORPHA6425
HP:0002750HP:0002750Delayed skeletal maturation0UBR1197131243800Johanson-Blizzard syndromeC0175692OMIM6425
HP:0002750HP:0002750Delayed skeletal maturation0WDR1155717432ArbovirosisORPHA1310
HP:0002750HP:0002750Delayed skeletal maturation0WNT5A7474180700Robinow syndromeC0265205OMIM698
HP:0002750HP:0002750Delayed skeletal maturation0ZBTB167704612447Skeletal defects, genital hypoplasia, and mental retardationC2676231OMIM21
HP:0002750HP:0005832Dysharmonic delayed bone age1
HP:0002750HP:0003799Marked delay in bone age1ESR12099785Arthrogryposis multiplex congenita CNS calcificationORPHA3413
HP:0002750HP:0003799Marked delay in bone age1LHX489884262700Pituitary hormone deficiency, combined 4C2678408OMIM2243
Note: The variant numbers are the total numbers per gene, not limited to the listed diseases or phenotypes.

Genes (162) :A2ML1 ABCC9 ACAN AGA ALDH18A1 ANKRD11 ANOS1 ANTXR1 ARID1B ATR ATRIP ATRX BLM BMP15 BRAF BTK CCBE1 CCDC8 CD96 CDC6 CDKN1C CDT1 CENPE CENPJ CEP152 CHD7 CHST3 COL2A1 COMP COX4I2 CPLX1 CREBBP CTBP1 CTNS CUL7 CYB5A CYP11A1 CYP11B1 CYP17A1 CYP19A1 DPP6 DUSP6 DVL1 EIF2AK3 EP300 ESR1 EXT1 EYA1 FBN1 FGF17 FGF8 FGFR1 FGFRL1 FLNB FMR1 FSHB FSHR GBA GH1 GHR GHRHR GHSR GJA1 GNRH1 GNRHR GPX4 H19 HDAC8 HRAS HS6ST1 HSD17B4 HSD3B2 HSPG2 IGF1 IGF1R IGF2 IGFALS IHH INPPL1 INSR ITGB6 KAT6B KCNJ2 KCNJ8 KISS1 KISS1R KRAS LETM1 LHX4 LIG4 LONP1 LTBP3 LZTR1 MCM9 MECP2 MMP13 MVK NELFA NEU1 NIN NIPBL NR5A1 NRAS NSD1 NSD2 NSMF NSUN2 NUP107 OBSL1 ORC1 ORC4 ORC6 PAM16 PAX1 PAX8 PCNT PDGFRB PEX1 PIGT PIK3R1 PLK4 POR PROK2 PROKR2 PSMC3IP PTDSS1 PTPN11 RAD21 RAF1 RASA2 RBBP8 RIT1 RNU4ATAC ROR2 RPS6KA3 RSPRY1 SBDS SCARB2 SECISBP2 SHOC2 SLC7A7 SMC1A SMC3 SOS1 SOS2 SPRTN SPRY4 SRCAP STAT1 TAC3 TACR3 TBCE THRA THRB TRAIP TRH TRPS1 TRPV4 UBR1 WDR11 WNT5A ZBTB16

Diseases (142) :648 239850 1517 608361 208400 219150 601162 148050 432 2067 230740 135900 808 210600 309580 125 243 115150 613707 307200 235510 2616 211750 613805 614732 613804 143095 150600 85198 2380 750 612714 194190 180849 219800 273750 90796 168558 289548 90795 90793 613546 91 616311 180700 1667 615363 502 2792 102370 614185 2645 272460 261483 229070 52901 77259 77261 612781 262650 633 262500 314802 314811 257850 93317 180860 199 3071 261515 90791 255800 73272 608747 73273 270450 616489 140941 63446 2746 508 246200 2850 170390 614842 614837 280 235 600373 1458 601216 616185 1762 2501 602111 29 812 614851 122470 228415 224690 613800 613803 613320 218700 2637 210720 601812 214100 615398 269880 95699 151050 210710 268310 303600 192 616723 811 260400 609698 2701 222700 616200 2044 136140 391487 241410 244460 2323 614450 3221 275120 190350 190351 184252 93314 2315 243800 612447 785 262700
 
       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
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is Feb. 201702 release.