Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | ABCC9 CL E G H | 10060 | 60 | OMIM:239850 | Hypertrichotic osteochondrodysplasia | . | | | 254 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | ABCC9 CL E G H | 10060 | 60 | ORPHA:1517 | Hypertrichotic osteochondrodysplasia, Cantu type | HP:0040282 - Frequent | | | 254 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | ABCD4 CL E G H | 5826 | 68 | OMIM:614857 | Methylmalonic aciduria and homocystinuria, Cblj type | | | | 53 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | ACAN CL E G H | 176 | 319 | OMIM:608361 | Spondyloepiphyseal dysplasia, Kimberley type | . | | | 34 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | AGA CL E G H | 175 | 318 | ORPHA:93 | Aspartylglucosaminuria | HP:0040283 - Occasional | | | 76 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | AGA CL E G H | 175 | 318 | OMIM:208400 | ASPARTYLGLUCOSAMINURIA | . | | | 76 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | AHSG CL E G H | 197 | 349 | ORPHA:2850 | Alopecia-intellectual disability syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300232 | Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration | . | | | 60 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:219150 | Cutis laxa, autosomal recessive, type IIIA | . | | | 89 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:601162 | Spastic paraplegia 9A, autosomal dominant | . | | | 89 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | ALG9 CL E G H | 79796 | 15672 | OMIM:608776 | Congenital disorder of glycosylation, type Il | . | | | 93 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | ANAPC1 CL E G H | 64682 | 19988 | ORPHA:221008 | Rothmund-Thomson syndrome type 1 | HP:0040284 - Very rare | | | 2 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | ANAPC1 CL E G H | 64682 | 19988 | OMIM:618625 | ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1 | | | | 2 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | ANKRD11 CL E G H | 29123 | 21316 | OMIM:148050 | Kbg syndrome | . | | | 102 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | ANKRD11 CL E G H | 29123 | 21316 | ORPHA:2332 | KBG syndrome | HP:0040282 - Frequent | | | 102 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | ANKRD17 CL E G H | 26057 | 23575 | OMIM:619504 | CHOPRA-AMIEL-GORDON SYNDROME; CAGS | | | | 2 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | ANOS1 CL E G H | 3730 | 6211 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | ANTXR1 CL E G H | 84168 | 21014 | ORPHA:2067 | GAPO syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | ANTXR1 CL E G H | 84168 | 21014 | OMIM:230740 | Gapo syndrome | . | | | 8 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | ARID1A CL E G H | 8289 | 11110 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 88 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | ARID1A CL E G H | 8289 | 11110 | OMIM:614607 | Coffin-Siris syndrome 2 | . | | | 88 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | ARID1B CL E G H | 57492 | 18040 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 219 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | . | | | 219 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | ARID2 CL E G H | 196528 | 18037 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 25 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | ATP8 CL E G H | 4509 | 7415 | ORPHA:480 | Kearns-Sayre syndrome | HP:0040283 - Occasional | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | ATR CL E G H | 545 | 882 | ORPHA:808 | Seckel syndrome | HP:0040281 - Very frequent | | | 168 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | ATR CL E G H | 545 | 882 | OMIM:210600 | Seckel syndrome 1 | . | | | 168 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | ATRIP CL E G H | 84126 | 33499 | ORPHA:808 | Seckel syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | ATRX CL E G H | 546 | 886 | OMIM:309580 | Mental retardation-hypotonic facies syndrome, X-linked, 1 | . | | | 169 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | B3GAT3 CL E G H | 26229 | 923 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | HP:0040283 - Occasional | | | 5 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | BMP15 CL E G H | 9210 | 1068 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 16 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | BMP2 CL E G H | 650 | 1069 | OMIM:617877 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | . | | | 13 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | BMPR1B CL E G H | 658 | 1077 | OMIM:609441 | Acromesomelic dysplasia, Demirhan type | | | | 90 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | BNC1 CL E G H | 646 | 1081 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | . | | | 276 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | BRAF CL E G H | 673 | 1097 | OMIM:613707 | Leopard syndrome 3 | | | | 276 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | BRF1 CL E G H | 2972 | 11551 | ORPHA:444072 | Cerebellar-facial-dental syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | BRF1 CL E G H | 2972 | 11551 | OMIM:616202 | Cerebellofaciodental syndrome | | | | 7 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | BTK CL E G H | 695 | 1133 | OMIM:307200 | Isolated growth hormone deficiency, type III, with agammaglobulinemia | | | | 109 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | CBL CL E G H | 867 | 1541 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | 317 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | CCBE1 CL E G H | 147372 | 29426 | OMIM:235510 | Hennekam lymphangiectasia-lymphedema syndrome | . | | | 147 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | CCDC141 CL E G H | 285025 | 26821 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | CCDC8 CL E G H | 83987 | 25367 | ORPHA:2616 | 3M syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | CD96 CL E G H | 10225 | 16892 | OMIM:211750 | C syndrome | . | | | 83 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | CDC45 CL E G H | 8318 | 1739 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | CDC6 CL E G H | 990 | 1744 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 31 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | CDC6 CL E G H | 990 | 1744 | OMIM:613805 | Meier-Gorlin syndrome 5 | . | | | 31 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | CDKN1C CL E G H | 1028 | 1786 | OMIM:614732 | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies | . | | | 114 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | CDT1 CL E G H | 81620 | 24576 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 50 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | CDT1 CL E G H | 81620 | 24576 | OMIM:613804 | Meier-Gorlin syndrome 4 | . | | | 50 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | CENPE CL E G H | 1062 | 1856 | ORPHA:808 | Seckel syndrome | HP:0040281 - Very frequent | | | 20 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | CENPJ CL E G H | 55835 | 17272 | ORPHA:808 | Seckel syndrome | HP:0040281 - Very frequent | | | 161 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | CENPT CL E G H | 80152 | 25787 | OMIM:618702 | SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA | | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | CEP152 CL E G H | 22995 | 29298 | ORPHA:808 | Seckel syndrome | HP:0040281 - Very frequent | | | 146 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | CEP152 CL E G H | 22995 | 29298 | OMIM:613823 | Seckel syndrome 5 | HP:0040283 - Occasional | | | 146 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | CEP57 CL E G H | 9702 | 30794 | OMIM:614114 | Mosaic variegated aneuploidy syndrome 2 | | | | 17 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 515 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 515 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | CHP1 CL E G H | 11261 | 17433 | OMIM:618438 | Spastic ataxia 9, autosomal recessive | . | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | HP:0040283 - Occasional | | | 165 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | . | | | 165 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | CKAP2L CL E G H | 150468 | 26877 | ORPHA:3255 | Filippi syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:85198 | Dysspondyloenchondromatosis | HP:0040282 - Frequent | | | 284 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:2380 | Legg-Calvé-Perthes disease | HP:0040281 - Very frequent | | | 284 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:150600 | Legg-Calve-Perthes disease | . | | | 284 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | COX4I1 CL E G H | 1327 | 2265 | OMIM:619060 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16 | | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | COX4I2 CL E G H | 84701 | 16232 | OMIM:612714 | Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis | . | | | 13 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | . | | | 1 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353281 | Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | HP:0040282 - Frequent | | | 291 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | CTBP1 CL E G H | 1487 | 2494 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | . | | | 2 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | . | | | 178 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | CTNS CL E G H | 1497 | 2518 | ORPHA:411634 | Juvenile nephropathic cystinosis | HP:0040284 - Very rare | | | 178 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | CUL7 CL E G H | 9820 | 21024 | OMIM:273750 | 3-M syndrome 1 | . | | | 127 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | CUL7 CL E G H | 9820 | 21024 | ORPHA:2616 | 3M syndrome | HP:0040281 - Very frequent | | | 127 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | CYB5A CL E G H | 1528 | 2570 | ORPHA:90796 | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency | HP:0040281 - Very frequent | | | 2 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:168558 | 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | HP:0040281 - Very frequent | | | 31 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:289548 | Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency | HP:0040281 - Very frequent | | | 31 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90796 | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency | HP:0040281 - Very frequent | | | 53 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90793 | Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency | HP:0040282 - Frequent | | | 53 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | CYP19A1 CL E G H | 1588 | 2594 | OMIM:613546 | Aromatase deficiency | | | | 60 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | CYP19A1 CL E G H | 1588 | 2594 | ORPHA:91 | Aromatase deficiency | HP:0040281 - Very frequent | | | 60 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | DCAF17 CL E G H | 80067 | 25784 | ORPHA:3464 | Woodhouse-Sakati syndrome | HP:0040281 - Very frequent | | | 87 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | DCC CL E G H | 1630 | 2701 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | DDB2 CL E G H | 1643 | 2718 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 30 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | DHX37 CL E G H | 57647 | 17210 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040283 - Occasional | | | 2 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | DMRT3 CL E G H | 58524 | 13909 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040283 - Occasional | | | 1 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | DNAJC21 CL E G H | 134218 | 27030 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | 5 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | DONSON CL E G H | 29980 | 2993 | OMIM:617604 | Microcephaly, short stature, and limb abnormalities | . | | | 9 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | DPF2 CL E G H | 5977 | 9964 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | DPP6 CL E G H | 1804 | 3010 | OMIM:616311 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33 | | | | 18 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 4 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | DVL1 CL E G H | 1855 | 3084 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | . | | | 14 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | DYNC2LI1 CL E G H | 51626 | 24595 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | EFL1 CL E G H | 79631 | 25789 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 172 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | ENPP1 CL E G H | 5167 | 3356 | OMIM:613312 | Hypophosphatemic rickets, autosomal recessive, 2 | . | | | 151 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 106 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 106 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 54 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 54 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 158 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 83 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | ESR1 CL E G H | 2099 | 3467 | OMIM:615363 | Estrogen resistance | . | | | 13 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | ESR1 CL E G H | 2099 | 3467 | ORPHA:785 | Estrogen resistance syndrome | | | | 13 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | EVC CL E G H | 2121 | 3497 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040283 - Occasional | | | 209 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | EVC2 CL E G H | 132884 | 19747 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040283 - Occasional | | | 137 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | EXT1 CL E G H | 2131 | 3512 | ORPHA:502 | Trichorhinophalangeal syndrome type 2 | HP:0040281 - Very frequent | | | 96 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | EYA1 CL E G H | 2138 | 3519 | ORPHA:2792 | Otofaciocervical syndrome | HP:0040282 - Frequent | | | 135 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | FAM111A CL E G H | 63901 | 24725 | ORPHA:93325 | Autosomal dominant Kenny-Caffey syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | FARSB CL E G H | 10056 | 17800 | OMIM:613658 | Rajab interstitial lung disease with brain calcifications | | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:102370 | Acromicric dysplasia | . | | | 1361 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:969 | Acromicric dysplasia | HP:0040283 - Occasional | | | 1361 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:614185 | GELEOPHYSIC DYSPLASIA 2; GPHYSD2 | | | | 1361 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:608328 | Weill-Marchesani syndrome 2, dominant | | | | 1361 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | FEZF1 CL E G H | 389549 | 22788 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | FGF17 CL E G H | 8822 | 3673 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | FGF17 CL E G H | 8822 | 3673 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 3 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | FGF8 CL E G H | 2253 | 3686 | OMIM:612702 | Hypogonadotropic hypogonadism 6 with or without anosmia | . | | | 17 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 17 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 17 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 172 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 172 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:2645 | Osteoglosphonic dysplasia | HP:0040282 - Frequent | | | 172 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | . | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:272460 | Spondylocarpotarsal synostosis syndrome | . | | | 233 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | FLRT3 CL E G H | 23767 | 3762 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | FMR1 CL E G H | 2332 | 3775 | ORPHA:261483 | Xq27.3q28 duplication syndrome | HP:0040282 - Frequent | | | 30 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | FOXA2 CL E G H | 3170 | 5022 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040283 - Occasional | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | FSHB CL E G H | 2488 | 3964 | OMIM:229070 | Hypogonadotropic hypogonadism 24 without anosmia | . | | | 23 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | FSHB CL E G H | 2488 | 3964 | ORPHA:52901 | Isolated follicle stimulating hormone deficiency | HP:0040281 - Very frequent | | | 23 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | FSHR CL E G H | 2492 | 3969 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 50 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040283 - Occasional | | | 87 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:77259 | Gaucher disease type 1 | HP:0040281 - Very frequent | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:77261 | Gaucher disease type 3 | HP:0040282 - Frequent | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | GDF5 CL E G H | 8200 | 4220 | ORPHA:63442 | Angel-shaped phalango-epiphyseal dysplasia | HP:0040283 - Occasional | | | 52 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:113100 | Brachydactyly, type C | HP:0040283 - Occasional | | | 52 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | GH1 CL E G H | 2688 | 4261 | OMIM:612781 | Growth hormone deficiency, isolated, type IB | . | | | 50 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | GH1 CL E G H | 2688 | 4261 | OMIM:262650 | Pituitary dwarfism IV | . | | | 50 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | GHR CL E G H | 2690 | 4263 | ORPHA:633 | Laron syndrome | HP:0040281 - Very frequent | | | 98 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | GHR CL E G H | 2690 | 4263 | OMIM:262500 | Laron syndrome | . | | | 98 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | GHR CL E G H | 2690 | 4263 | ORPHA:314802 | Short stature due to partial GHR deficiency | HP:0040281 - Very frequent | | | 98 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | GHRHR CL E G H | 2692 | 4266 | OMIM:618157 | ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV; IGHD4 | | | | 44 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | GHSR CL E G H | 2693 | 4267 | OMIM:615925 | Growth hormone deficiency, isolated partial | HP:0040283 - Occasional | | | 37 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | GHSR CL E G H | 2693 | 4267 | ORPHA:314811 | Short stature due to GHSR deficiency | HP:0040281 - Very frequent | | | 37 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:257850 | Oculodentodigital dysplasia, autosomal recessive | . | | | 68 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | GLI1 CL E G H | 2735 | 4317 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040283 - Occasional | | | 173 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | GMNN CL E G H | 51053 | 17493 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | GMNN CL E G H | 51053 | 17493 | OMIM:616835 | Meier-Gorlin syndrome 6 | | | | 3 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | GNRH1 CL E G H | 2796 | 4419 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 15 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | GNRHR CL E G H | 2798 | 4421 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 92 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | GPX4 CL E G H | 2879 | 4556 | ORPHA:93317 | Spondylometaphyseal dysplasia, Sedaghatian type | HP:0040281 - Very frequent | | | 3 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | GRB10 CL E G H | 2887 | 4564 | ORPHA:96182 | Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 | HP:0040281 - Very frequent | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 2 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | GTF2E2 CL E G H | 2961 | 4651 | OMIM:616943 | Trichothiodystrophy 6, nonphotosensitive | HP:0040283 - Occasional | | | 2 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | H19 CL E G H | 283120 | 4713 | ORPHA:231144 | Silver-Russell syndrome due to 11p15 microduplication | HP:0040282 - Frequent | | | 4 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | H19 CL E G H | 283120 | 4713 | ORPHA:231140 | Silver-Russell syndrome due to an imprinting defect of 11p15 | HP:0040281 - Very frequent | | | 4 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | H19-ICR CL E G H | 105259599 | | OMIM:180860 | Silver-Russell syndrome | . | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 37 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040283 - Occasional | | | 21 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 21 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | HMGA2 CL E G H | 8091 | 5009 | OMIM:618908 | SILVER-RUSSELL SYNDROME 5; SRS5 | | | | 2 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:3071 | Costello syndrome | HP:0040281 - Very frequent | | | 113 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 8 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | HSD17B4 CL E G H | 3295 | 5213 | OMIM:261515 | D-bifunctional protein deficiency | . | | | 98 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | HP:0040283 - Occasional | | | 345 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | HSPG2 CL E G H | 3339 | 5273 | OMIM:255800 | Schwartz-jampel syndrome, type 1 | . | | | 345 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | HUWE1 CL E G H | 10075 | 30892 | OMIM:309590 | Mental retardation, x-linked syndromic, Turner type | . | | | 98 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | IFT57 CL E G H | 55081 | 17367 | OMIM:617927 | Orofaciodigital syndrome XVIII | . | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | IGF1 CL E G H | 3479 | 5464 | ORPHA:73272 | Growth delay due to insulin-like growth factor type 1 deficiency | HP:0040282 - Frequent | | | 91 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | IGF1 CL E G H | 3479 | 5464 | OMIM:608747 | Insulin-Like growth factor I deficiency | . | | | 91 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | IGF1R CL E G H | 3480 | 5465 | ORPHA:73273 | Growth delay due to insulin-like growth factor I resistance | HP:0040281 - Very frequent | | | 268 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | IGF1R CL E G H | 3480 | 5465 | OMIM:270450 | Insulin-Like growth factor I, resistance to | . | | | 268 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | IGF2 CL E G H | 3481 | 5466 | OMIM:616489 | Growth restriction, severe, with distinctive facies | . | | | 9 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | IGF2 CL E G H | 3481 | 5466 | OMIM:180860 | Silver-Russell syndrome | . | | | 9 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | IGF2 CL E G H | 3481 | 5466 | ORPHA:231144 | Silver-Russell syndrome due to 11p15 microduplication | HP:0040282 - Frequent | | | 9 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | IGF2 CL E G H | 3481 | 5466 | ORPHA:231140 | Silver-Russell syndrome due to an imprinting defect of 11p15 | HP:0040281 - Very frequent | | | 9 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | IGFALS CL E G H | 3483 | 5468 | ORPHA:140941 | Short stature due to primary acid-labile subunit deficiency | HP:0040281 - Very frequent | | | 53 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | IHH CL E G H | 3549 | 5956 | ORPHA:63446 | Acrocapitofemoral dysplasia | HP:0040281 - Very frequent | | | 44 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | IL17RD CL E G H | 54756 | 17616 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | INPPL1 CL E G H | 3636 | 6080 | ORPHA:2746 | Opsismodysplasia | HP:0040281 - Very frequent | | | 18 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | INSR CL E G H | 3643 | 6091 | OMIM:246200 | Donohue syndrome | . | | | 229 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | INSR CL E G H | 3643 | 6091 | ORPHA:769 | Rabson-Mendenhall syndrome | HP:0040283 - Occasional | | | 229 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | ITCH CL E G H | 83737 | 13890 | OMIM:613385 | AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD | | | | 3 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | ITGB6 CL E G H | 3694 | 6161 | ORPHA:2850 | Alopecia-intellectual disability syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | KARS1 CL E G H | 3735 | 6215 | OMIM:619147 | LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID | | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | KCNJ2 CL E G H | 3759 | 6263 | OMIM:170390 | Andersen cardiodysrhythmic periodic paralysis | . | | | 193 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | KCNJ8 CL E G H | 3764 | 6269 | ORPHA:1517 | Hypertrichotic osteochondrodysplasia, Cantu type | HP:0040282 - Frequent | | | 23 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | KIF15 CL E G H | 56992 | 17273 | ORPHA:261323 | 21q22.11q22.12 microdeletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | KISS1 CL E G H | 3814 | 6341 | OMIM:614842 | Hypogonadotropic hypogonadism 13 with or without anosmia | . | | | 3 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | KISS1 CL E G H | 3814 | 6341 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 3 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | KISS1R CL E G H | 84634 | 4510 | OMIM:614837 | Hypogonadotropic hypogonadism 8 with or without anosmia | . | | | 14 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | KISS1R CL E G H | 84634 | 4510 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 14 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | KMT2A CL E G H | 4297 | 7132 | ORPHA:319182 | Wiedemann-Steiner syndrome | HP:0040282 - Frequent | | | 91 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | KMT2A CL E G H | 4297 | 7132 | OMIM:605130 | Wiedemann-Steiner syndrome | HP:0040283 - Occasional | | | 91 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | 196 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:609942 | Noonan syndrome 3 | . | | | 196 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | LETM1 CL E G H | 3954 | 6556 | OMIM:194190 | Wolf-Hirschhorn syndrome | . | | | 2 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | LETM1 CL E G H | 3954 | 6556 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | LGR4 CL E G H | 55366 | 13299 | OMIM:619613 | DELAYED PUBERTY, SELF-LIMITED; DPSL | | | | 1 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040283 - Occasional | | | 43 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | LHX4 CL E G H | 89884 | 21734 | OMIM:262700 | Pituitary hormone deficiency, combined, 4 | | | | 43 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | LIG4 CL E G H | 3981 | 6601 | ORPHA:235 | Dubowitz syndrome | HP:0040282 - Frequent | | | 88 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | LONP1 CL E G H | 9361 | 9479 | OMIM:600373 | CODAS syndrome | . | | | 8 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | LONP1 CL E G H | 9361 | 9479 | ORPHA:1458 | CODAS syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | LPIN2 CL E G H | 9663 | 14450 | OMIM:609628 | MAJEED SYNDROME; MJDS | | | | 186 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | LSS CL E G H | 4047 | 6708 | ORPHA:2850 | Alopecia-intellectual disability syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | LTBP3 CL E G H | 4054 | 6716 | ORPHA:969 | Acromicric dysplasia | HP:0040283 - Occasional | | | 12 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | LTBP3 CL E G H | 4054 | 6716 | OMIM:601216 | Dental anomalies and short stature | . | | | 12 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | LTBP3 CL E G H | 4054 | 6716 | OMIM:617809 | Geleophysic dysplasia 3 | . | | | 12 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | LZTR1 CL E G H | 8216 | 6742 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | 43 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | MADD CL E G H | 8567 | 6766 | OMIM:619004 | DEEAH SYNDROME; DEEAH | | | | 5 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | MALT1 CL E G H | 10892 | 6819 | OMIM:615468 | Immunodeficiency 12 | HP:0040283 - Occasional | | | 6 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | MAP3K1 CL E G H | 4214 | 6848 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040283 - Occasional | | | 13 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | MAP3K7 CL E G H | 6885 | 6859 | OMIM:157800 | Cardiospondylocarpofacial syndrome | . | | | 11 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:2273 | Ichthyosis follicularis-alopecia-photophobia syndrome | HP:0040283 - Occasional | | | 22 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | MCM9 CL E G H | 254394 | 21484 | OMIM:616185 | Ovarian dysgenesis 4 | . | | | 4 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:1762 | Proximal Xq28 duplication syndrome | HP:0040281 - Very frequent | | | 950 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | MMP13 CL E G H | 4322 | 7159 | ORPHA:2501 | Metaphyseal chondrodysplasia, Spahr type | HP:0040281 - Very frequent | | | 52 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | MMP13 CL E G H | 4322 | 7159 | OMIM:602111 | Spondyloepimetaphyseal dysplasia, Missouri type | . | | | 52 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 9 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | MRAS CL E G H | 22808 | 7227 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | MRPS22 CL E G H | 56945 | 14508 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 25 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | MRPS22 CL E G H | 56945 | 14508 | OMIM:618117 | Ovarian dysgenesis 7 | . | | | 25 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | MSMO1 CL E G H | 6307 | 10545 | OMIM:616834 | Microcephaly, congenital cataract, and psoriasiform dermatitis | | | | 3 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | MSTO1 CL E G H | 55154 | 29678 | ORPHA:502423 | Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome | HP:0040282 - Frequent | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | MSTO1 CL E G H | 55154 | 29678 | OMIM:617675 | Myopathy, mitochondrial, and ataxia | . | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | MVK CL E G H | 4598 | 7530 | ORPHA:29 | Mevalonic aciduria | HP:0040281 - Very frequent | | | 150 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | | | | 23 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | NBAS CL E G H | 51594 | 15625 | OMIM:614800 | Short stature, optic nerve atrophy, and pelger-huet anomaly | HP:0040283 - Occasional | | | 25 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | NDNF CL E G H | 79625 | 26256 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | NELFA CL E G H | 7469 | 12768 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | NEU1 CL E G H | 4758 | 7758 | ORPHA:812 | Sialidosis type 1 | HP:0040281 - Very frequent | | | 43 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | NFE2L2 CL E G H | 4780 | 7782 | OMIM:617744 | Immunodeficiency, developmental delay, and hypohomocysteinemia | | | | 20 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | NGLY1 CL E G H | 55768 | 17646 | ORPHA:404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | NIN CL E G H | 51199 | 14906 | ORPHA:319675 | Microcephalic primordial dwarfism, Dauber type | HP:0040282 - Frequent | | | 55 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | NIN CL E G H | 51199 | 14906 | OMIM:614851 | Seckel syndrome 7 | . | HP:0011463 - Childhood onset | | 55 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 494 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | . | | | 494 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:619260 | SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA | | | | 15 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | NPR2 CL E G H | 4882 | 7944 | OMIM:616255 | Short stature with nonspecific skeletal abnormalities | HP:0040283 - Occasional | | | 53 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | NR0B1 CL E G H | 190 | 7960 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040283 - Occasional | | | 48 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | NR2F1 CL E G H | 7025 | 7975 | ORPHA:401777 | Optic atrophy-intellectual disability syndrome | HP:0040284 - Very rare | | | 37 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 38 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040283 - Occasional | | | 38 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | NRAS CL E G H | 4893 | 7989 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | 102 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | NSD1 CL E G H | 64324 | 14234 | ORPHA:228415 | 5q35 microduplication syndrome | HP:0040282 - Frequent | | | 544 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | NSD2 CL E G H | 7468 | 12766 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | 118 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | NSD2 CL E G H | 7468 | 12766 | OMIM:194190 | Wolf-Hirschhorn syndrome | . | | | 118 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | NSMF CL E G H | 26012 | 29843 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 6 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | NSUN2 CL E G H | 54888 | 25994 | ORPHA:235 | Dubowitz syndrome | HP:0040282 - Frequent | | | 84 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | NUP107 CL E G H | 57122 | 29914 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 5 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | NUP85 CL E G H | 79902 | 8734 | ORPHA:808 | Seckel syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | OBSL1 CL E G H | 23363 | 29092 | OMIM:612921 | 3-M syndrome 2 | | | | 143 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | OBSL1 CL E G H | 23363 | 29092 | ORPHA:2616 | 3M syndrome | HP:0040281 - Very frequent | | | 143 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | ORC1 CL E G H | 4998 | 8487 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 53 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | ORC1 CL E G H | 4998 | 8487 | OMIM:224690 | Meier-Gorlin syndrome 1 | . | | | 53 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | ORC4 CL E G H | 5000 | 8490 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 21 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | ORC4 CL E G H | 5000 | 8490 | OMIM:613800 | Meier-Gorlin syndrome 2 | . | | | 21 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | ORC6 CL E G H | 23594 | 17151 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 39 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | ORC6 CL E G H | 23594 | 17151 | OMIM:613803 | Meier-Gorlin syndrome 3 | . | | | 39 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | OTX2 CL E G H | 5015 | 8522 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040283 - Occasional | | | 41 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | PAM16 CL E G H | 51025 | 29679 | OMIM:613320 | Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type | . | | | 1 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | PAX1 CL E G H | 5075 | 8615 | ORPHA:2792 | Otofaciocervical syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | PAX8 CL E G H | 7849 | 8622 | OMIM:218700 | Hypothyroidism, congenital, nongoitrous, 2 | . | | | 63 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | PCGF2 CL E G H | 7703 | 12929 | OMIM:618371 | Turnpenny-Fry syndrome | . | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | PCNT CL E G H | 5116 | 16068 | ORPHA:2637 | Microcephalic osteodysplastic primordial dwarfism type II | HP:0040281 - Very frequent | | | 531 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | PCNT CL E G H | 5116 | 16068 | OMIM:210720 | Microcephalic osteodysplastic primordial dwarfism, type II | . | | | 531 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | PCNT CL E G H | 5116 | 16068 | ORPHA:808 | Seckel syndrome | HP:0040281 - Very frequent | | | 531 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | PCSK1 CL E G H | 5122 | 8743 | ORPHA:71528 | Obesity due to prohormone convertase I deficiency | HP:0040283 - Occasional | | | 65 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | PDGFRB CL E G H | 5159 | 8804 | OMIM:601812 | Premature aging syndrome, Penttinen type | . | | | 28 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | PEX1 CL E G H | 5189 | 8850 | ORPHA:3220 | Deafness-enamel hypoplasia-nail defects syndrome | HP:0040283 - Occasional | | | 169 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | PEX1 CL E G H | 5189 | 8850 | OMIM:214100 | Peroxisome biogenesis disorder 1A (Zellweger) | . | | | 169 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:3220 | Deafness-enamel hypoplasia-nail defects syndrome | HP:0040283 - Occasional | | | 98 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | PIGG CL E G H | 54872 | 25985 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | PIGT CL E G H | 51604 | 14938 | ORPHA:369837 | Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | PIGT CL E G H | 51604 | 14938 | OMIM:615398 | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | . | | | 12 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | PIK3C2A CL E G H | 5286 | 8971 | ORPHA:557003 | Oculocerebrodental syndrome | HP:0040283 - Occasional | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | PIK3C2A CL E G H | 5286 | 8971 | OMIM:618440 | Oculoskeletodental syndrome | | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:269880 | Short syndrome | . | | | 43 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | PLK4 CL E G H | 10733 | 11397 | ORPHA:808 | Seckel syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | POLA1 CL E G H | 5422 | 9173 | ORPHA:163976 | X-linked intellectual disability, Van Esch type | HP:0040281 - Very frequent | | | 2 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | POLR3H CL E G H | 171568 | 30349 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | POMC CL E G H | 5443 | 9201 | ORPHA:71526 | Obesity due to pro-opiomelanocortin deficiency | HP:0040283 - Occasional | | | 27 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | POP1 CL E G H | 10940 | 30129 | OMIM:617396 | Anauxetic dysplasia 2 | . | | | 6 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040283 - Occasional | | | 36 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | POU3F4 CL E G H | 5456 | 9217 | ORPHA:1435 | Xq21 microdeletion syndrome | HP:0040282 - Frequent | | | 40 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | PPP1CB CL E G H | 5500 | 9282 | ORPHA:2701 | Noonan syndrome-like disorder with loose anagen hair | HP:0040281 - Very frequent | | | 9 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | PPP1CB CL E G H | 5500 | 9282 | OMIM:617506 | Noonan syndrome-like disorder with loose anagen hair 2 | | | | 9 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | PPP1R15B CL E G H | 84919 | 14951 | OMIM:616817 | Microcephaly, short stature, and impaired glucose metabolism 2 | HP:0040283 - Occasional | | | 2 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | PPP1R21 CL E G H | 129285 | 30595 | OMIM:619383 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA | | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | PPP2R3C CL E G H | 55012 | 17485 | OMIM:618419 | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | . | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | PRKACA CL E G H | 5566 | 9380 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | PRKACB CL E G H | 5567 | 9381 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | PRKG2 CL E G H | 5593 | 9416 | OMIM:619638 | SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP | | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | PROK2 CL E G H | 60675 | 18455 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | PROK2 CL E G H | 60675 | 18455 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 9 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 34 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040283 - Occasional | | | 54 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:90695 | Non-acquired panhypopituitarism | HP:0040283 - Occasional | | | 54 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | PSMC3IP CL E G H | 29893 | 17928 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 2 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | PTDSS1 CL E G H | 9791 | 9587 | ORPHA:2658 | Lenz-Majewski hyperostotic dwarfism | HP:0040281 - Very frequent | | | 6 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | PTDSS1 CL E G H | 9791 | 9587 | OMIM:151050 | Lenz-Majewski hyperostotic dwarfism | . | | | 6 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:109 | Bannayan-Riley-Ruvalcaba syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | 291 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | QRICH1 CL E G H | 54870 | 24713 | OMIM:617982 | VERVERI-BRADY SYNDROME; VERBRAS | | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 25 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | RAF1 CL E G H | 5894 | 9829 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | 212 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | RASA2 CL E G H | 5922 | 9872 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | RBBP8 CL E G H | 5932 | 9891 | ORPHA:808 | Seckel syndrome | HP:0040281 - Very frequent | | | 68 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | RBM28 CL E G H | 55131 | 21863 | ORPHA:157954 | ANE syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | RECQL4 CL E G H | 9401 | 9949 | ORPHA:221016 | Rothmund-Thomson syndrome type 2 | HP:0040283 - Occasional | | | 445 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | RIT1 CL E G H | 6016 | 10023 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | 39 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | RMRP CL E G H | 6023 | 10031 | ORPHA:175 | Cartilage-hair hypoplasia | HP:0040283 - Occasional | | | 37 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | RNF13 CL E G H | 11342 | 10057 | OMIM:618379 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73 | | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | RNF13 CL E G H | 11342 | 10057 | ORPHA:544503 | RNF13-related severe early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | RNPC3 CL E G H | 55599 | 18666 | OMIM:618160 | Isolated growth hormone deficiency, type V | . | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:1824 | Lowry-Wood syndrome | HP:0040283 - Occasional | | | 15 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:2636 | Microcephalic osteodysplastic primordial dwarfism types I and III | HP:0040281 - Very frequent | | | 15 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | . | | | 15 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | ROR2 CL E G H | 4920 | 10257 | OMIM:268310 | Robinow syndrome, autosomal recessive | . | | | 120 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | RPS6KA3 CL E G H | 6197 | 10432 | OMIM:303600 | Coffin-Lowry syndrome | . | | | 65 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | RPS6KA3 CL E G H | 6197 | 10432 | ORPHA:192 | Coffin-Lowry syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | RRAS CL E G H | 6237 | 10447 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | RRAS2 CL E G H | 22800 | 17271 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:480 | Kearns-Sayre syndrome | HP:0040283 - Occasional | | | 125 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | RSPRY1 CL E G H | 89970 | 29420 | ORPHA:457395 | Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | RSPRY1 CL E G H | 89970 | 29420 | OMIM:616723 | Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type | . | | | 2 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | SBDS CL E G H | 51119 | 19440 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040282 - Frequent | | | 26 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | SBDS CL E G H | 51119 | 19440 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | 26 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | SCARB2 CL E G H | 950 | 1665 | ORPHA:77259 | Gaucher disease type 1 | HP:0040281 - Very frequent | | | 77 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | SECISBP2 CL E G H | 79048 | 30972 | ORPHA:171706 | Short stature-delayed bone age due to thyroid hormone metabolism deficiency | | | | 3 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | SECISBP2 CL E G H | 79048 | 30972 | OMIM:609698 | Thyroid hormone metabolism, abnormal | . | | | 3 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | SEMA3A CL E G H | 10371 | 10723 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | SHOC2 CL E G H | 8036 | 15454 | ORPHA:2701 | Noonan syndrome-like disorder with loose anagen hair | HP:0040281 - Very frequent | | | 74 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | SIN3A CL E G H | 25942 | 19353 | ORPHA:500166 | SIN3A-related intellectual disability syndrome due to a point mutation | HP:0040283 - Occasional | | | 9 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | SIN3B CL E G H | 23309 | 19354 | ORPHA:500166 | SIN3A-related intellectual disability syndrome due to a point mutation | HP:0040283 - Occasional | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | . | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | SLC29A3 CL E G H | 55315 | 23096 | ORPHA:168569 | H syndrome | HP:0040283 - Occasional | | | 68 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | SLC7A7 CL E G H | 9056 | 11065 | ORPHA:470 | Lysinuric protein intolerance | HP:0040282 - Frequent | | | 104 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | SLC7A7 CL E G H | 9056 | 11065 | OMIM:222700 | Lysinuric protein intolerance | . | | | 104 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:619293 | BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS | | | | 146 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | SMARCA2 CL E G H | 6595 | 11098 | ORPHA:3051 | Nicolaides-Baraitser syndrome | HP:0040283 - Occasional | | | 146 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:601358 | Nicolaides-Baraitser syndrome | | | | 146 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | SMARCA4 CL E G H | 6597 | 11100 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 617 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | SMARCA4 CL E G H | 6597 | 11100 | OMIM:614609 | Coffin-Siris syndrome 4 | . | | | 617 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 87 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | SMARCB1 CL E G H | 6598 | 11103 | OMIM:614608 | Coffin-Siris syndrome 3 | . | | | 87 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | SMARCC2 CL E G H | 6601 | 11105 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | SMARCD1 CL E G H | 6602 | 11106 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 47 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 135 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 91 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | SMPD1 CL E G H | 6609 | 11120 | ORPHA:77293 | Niemann-Pick disease type B | HP:0040282 - Frequent | | | 164 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | SOHLH1 CL E G H | 402381 | 27845 | OMIM:617690 | Ovarian dysgenesis 5 | . | | | 3 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | SOS1 CL E G H | 6654 | 11187 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | 315 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | SOS1 CL E G H | 6654 | 11187 | OMIM:610733 | Noonan syndrome 4 | | | | 315 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | SOS2 CL E G H | 6655 | 11188 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | 30 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | SOX10 CL E G H | 6663 | 11190 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 61 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | SOX11 CL E G H | 6664 | 11191 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 14 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | SOX3 CL E G H | 6658 | 11199 | ORPHA:90695 | Non-acquired panhypopituitarism | HP:0040283 - Occasional | | | 24 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | SOX3 CL E G H | 6658 | 11199 | ORPHA:67045 | X-linked intellectual disability with isolated growth hormone deficiency | HP:0040283 - Occasional | | | 24 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | SOX4 CL E G H | 6659 | 11200 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | SOX9 CL E G H | 6662 | 11204 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040283 - Occasional | | | 109 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | SPIDR CL E G H | 23514 | 28971 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 2 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | SPIDR CL E G H | 23514 | 28971 | OMIM:619665 | OVARIAN DYSGENESIS 9; ODG9 | | | | 2 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | SPRED2 CL E G H | 200734 | 17722 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | SPRTN CL E G H | 83932 | 25356 | OMIM:616200 | Ruijs-Aalfs syndrome | . | | | 3 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 5 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | SRCAP CL E G H | 10847 | 16974 | OMIM:136140 | Floating-Harbor syndrome | . | | | 138 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | SRCAP CL E G H | 10847 | 16974 | ORPHA:2044 | Floating-Harbor syndrome | HP:0040282 - Frequent | | | 138 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | SRP54 CL E G H | 6729 | 11301 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040282 - Frequent | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | SRP54 CL E G H | 6729 | 11301 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | SRY CL E G H | 6736 | 11311 | ORPHA:1772 | 45,X/46,XY mixed gonadal dysgenesis | HP:0040283 - Occasional | | | 23 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | SRY CL E G H | 6736 | 11311 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040283 - Occasional | | | 23 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | STAT1 CL E G H | 6772 | 11362 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | HP:0040281 - Very frequent | | | 89 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | STAT5B CL E G H | 6777 | 11367 | OMIM:618985 | GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT; GHISID2 | | | | 12 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | TAB2 CL E G H | 23118 | 17075 | ORPHA:228410 | Polyvalvular heart disease syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | TAC3 CL E G H | 6866 | 11521 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 6 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | TACR3 CL E G H | 6870 | 11528 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | TACR3 CL E G H | 6870 | 11528 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 34 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | TAF13 CL E G H | 6884 | 11546 | OMIM:617432 | Mental retardation, autosomal recessive 60 | . | | | 2 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | TBCE CL E G H | 6905 | 11582 | ORPHA:93324 | Autosomal recessive Kenny-Caffey syndrome | HP:0040282 - Frequent | | | 52 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | TBCE CL E G H | 6905 | 11582 | OMIM:241410 | Hypoparathyroidism-Retardation-Dysmorphism syndrome | . | | | 52 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | TBCE CL E G H | 6905 | 11582 | OMIM:244460 | Kenny-caffey syndrome, type 1 | . | | | 52 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | TBCE CL E G H | 6905 | 11582 | ORPHA:2323 | Sanjad-Sakati syndrome | HP:0040281 - Very frequent | | | 52 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | TBCK CL E G H | 93627 | 28261 | ORPHA:488632 | TBCK-related intellectual disability syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | THRA CL E G H | 7067 | 11796 | OMIM:614450 | Hypothyroidism, congenital, nongoitrous, 6 | . | | | 9 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:140976 | RHYNS syndrome | HP:0040282 - Frequent | | | 166 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:602152 | Rhyns syndrome | . | | | 166 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | TOM1 CL E G H | 10043 | 11982 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | TONSL CL E G H | 4796 | 7801 | OMIM:271510 | Spondyloepimetaphyseal dysplasia, Sponastrime type | . | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | TP53 CL E G H | 7157 | 11998 | OMIM:618165 | Bone marrow failure syndrome 5 | . | | | 911 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | TRAIP CL E G H | 10293 | 30764 | ORPHA:808 | Seckel syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | TRH CL E G H | 7200 | 12298 | OMIM:275120 | Thyrotropin-Releasing hormone deficiency | . | | | 5 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | TRHR CL E G H | 7201 | 12299 | OMIM:618573 | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7; CHNG7 | | | | 2 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | TRHR CL E G H | 7201 | 12299 | ORPHA:99832 | Resistance to thyrotropin-releasing hormone syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:480 | Kearns-Sayre syndrome | HP:0040283 - Occasional | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | TRPS1 CL E G H | 7227 | 12340 | ORPHA:502 | Trichorhinophalangeal syndrome type 2 | HP:0040281 - Very frequent | | | 171 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | TRPS1 CL E G H | 7227 | 12340 | OMIM:190350 | Trichorhinophalangeal syndrome, type I | . | | | 171 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | TRPS1 CL E G H | 7227 | 12340 | OMIM:190351 | Trichorhinophalangeal syndrome, type III | . | | | 171 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:156530 | Metatropic dysplasia | | | | 214 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:184252 | Spondylometaphyseal dysplasia, Kozlowski type | . | | | 214 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | TSHB CL E G H | 7252 | 12372 | ORPHA:90674 | Isolated thyroid-stimulating hormone deficiency | HP:0040282 - Frequent | | | 9 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | UBR1 CL E G H | 197131 | 16808 | OMIM:243800 | Johanson-Blizzard syndrome | . | | | 25 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | UBR1 CL E G H | 197131 | 16808 | ORPHA:2315 | Johanson-Blizzard syndrome | HP:0040282 - Frequent | | | 25 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | UFSP2 CL E G H | 55325 | 25640 | OMIM:617974 | Spondyloepimetaphyseal dysplasia, DI Rocco type | | | | 2 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | VAMP7 CL E G H | 6845 | 11486 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040283 - Occasional | | | 2 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | WDR11 CL E G H | 55717 | 13831 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | WDR11 CL E G H | 55717 | 13831 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 10 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | WDR4 CL E G H | 10785 | 12756 | OMIM:618347 | Galloway-Mowat syndrome 6 | . | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | WNT5A CL E G H | 7474 | 12784 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | . | | | 98 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040283 - Occasional | | | 177 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | WWOX CL E G H | 51741 | 12799 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040283 - Occasional | | | 149 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | XPA CL E G H | 7507 | 12814 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 34 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | XPC CL E G H | 7508 | 12816 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 86 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | HP:0040283 - Occasional | | | 362 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | HP:0040283 - Occasional | | | 362 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | ZFPM2 CL E G H | 23414 | 16700 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040283 - Occasional | | | 31 | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0002750 | HP:0002750 | Delayed skeletal maturation | 0 | ZSWIM7 CL E G H | 125150 | 26993 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | | | |
HP:0002750 | HP:0005832 | Dysharmonic delayed bone age | 1 | CENPT CL E G H | 80152 | 25787 | OMIM:618702 | SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA | | | | | | |
HP:0002750 | HP:0003799 | Marked delay in bone age | 1 | ESR1 CL E G H | 2099 | 3467 | ORPHA:785 | Estrogen resistance syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0002750 | HP:0003799 | Marked delay in bone age | 1 | LHX4 CL E G H | 89884 | 21734 | OMIM:262700 | Pituitary hormone deficiency, combined, 4 | . | | | 43 | | |