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:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | ACAN CL E G H | 176 | 319 | OMIM:608361 | Spondyloepiphyseal dysplasia, Kimberley type | | | | 34 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | ADAMTS2 CL E G H | 9509 | 218 | ORPHA:1901 | Dermatosparaxis Ehlers-Danlos syndrome | | | | 165 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | ADAMTSL2 CL E G H | 9719 | 14631 | ORPHA:1901 | Dermatosparaxis Ehlers-Danlos syndrome | | | | 72 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | ADAMTSL2 CL E G H | 9719 | 14631 | OMIM:231050 | Geleophysic dysplasia 1 | | | | 72 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300232 | Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration | | | | 60 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | ARSL CL E G H | 415 | 719 | ORPHA:79345 | Brachytelephalangic chondrodysplasia punctata | | | | | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | ATP7A CL E G H | 538 | 869 | ORPHA:198 | Occipital horn syndrome | | | | 192 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:271640 | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | | | | 38 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | BRF1 CL E G H | 2972 | 11551 | OMIM:616202 | Cerebellofaciodental syndrome | | | | 7 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | CANT1 CL E G H | 124583 | 19721 | OMIM:617719 | EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7 | | | | 85 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | CCN6 CL E G H | 8838 | 12771 | OMIM:208230 | Arthropathy, progressive pseudorheumatoid, of childhood | | | | | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | CCN6 CL E G H | 8838 | 12771 | ORPHA:1159 | Progressive pseudorheumatoid arthropathy of childhood | | | | | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | CDC6 CL E G H | 990 | 1744 | OMIM:613805 | Meier-Gorlin syndrome 5 | | | | 31 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | | | | 165 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | COL10A1 CL E G H | 1300 | 2185 | OMIM:156500 | Metaphyseal chondrodysplasia, Schmid type | | | | 79 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | COL11A1 CL E G H | 1301 | 2186 | OMIM:154780 | Marshall syndrome | | | | 215 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | COL11A2 CL E G H | 1302 | 2187 | OMIM:215150 | Otospondylomegaepiphyseal dysplasia | | | | 222 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:1899 | Arthrochalasia Ehlers-Danlos syndrome | | | | 373 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | COL1A2 CL E G H | 1278 | 2198 | ORPHA:1899 | Arthrochalasia Ehlers-Danlos syndrome | | | | 243 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93296 | Achondrogenesis type 2 | | | | 284 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:608805 | Avascular necrosis of femoral head, primary, 1 | | | | 284 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:609162 | Czech dysplasia, Metatarsal type | | | | 284 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:485 | Kniest dysplasia | | | | 284 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:150600 | Legg-Calve-Perthes disease | | | | 284 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:166011 | Multiple epiphyseal dysplasia, Beighton type | | | | 284 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:85166 | Platyspondylic dysplasia, Torrance type | | | | 284 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | | | | 284 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93316 | Spondylometaphyseal dysplasia, Schmidt type | | | | 284 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:271700 | Spondyloperipheral dysplasia | | | | 284 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:108300 | Stickler syndrome, type I | | | | 284 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | COL9A1 CL E G H | 1297 | 2217 | OMIM:614135 | Epiphyseal dysplasia, multiple, 6 | | | | 110 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | COL9A1 CL E G H | 1297 | 2217 | ORPHA:166002 | Multiple epiphyseal dysplasia due to collagen 9 anomaly | | | | 110 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | COL9A1 CL E G H | 1297 | 2217 | OMIM:614134 | STICKLER SYNDROME, TYPE IV; STL4 | | | | 110 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | COL9A2 CL E G H | 1298 | 2218 | ORPHA:166002 | Multiple epiphyseal dysplasia due to collagen 9 anomaly | | | | 110 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | COL9A3 CL E G H | 1299 | 2219 | ORPHA:166002 | Multiple epiphyseal dysplasia due to collagen 9 anomaly | | | | 137 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | COMP CL E G H | 1311 | 2227 | OMIM:132400 | Epiphyseal dysplasia, multiple, 1 | | | | 89 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | COMP CL E G H | 1311 | 2227 | ORPHA:93308 | Multiple epiphyseal dysplasia type 1 | | | | 89 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | COMP CL E G H | 1311 | 2227 | ORPHA:750 | Pseudoachondroplasia | | | | 89 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353281 | Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | | | | 291 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353277 | Rubinstein-Taybi syndrome due to CREBBP mutations | | | | 291 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | | | | 57 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | DNAJC21 CL E G H | 134218 | 27030 | ORPHA:811 | Shwachman-Diamond syndrome | | | | 5 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:260400 | Shwachman-Diamond syndrome 1 | | | | 5 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | DUOX2 CL E G H | 50506 | 13273 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 121 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | DUOXA2 CL E G H | 405753 | 32698 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 11 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | DVL1 CL E G H | 1855 | 3084 | ORPHA:3107 | Autosomal dominant Robinow syndrome | | | | 14 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | DVL3 CL E G H | 1857 | 3087 | ORPHA:3107 | Autosomal dominant Robinow syndrome | | | | 5 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | DYM CL E G H | 54808 | 21317 | ORPHA:239 | Dyggve-Melchior-Clausen disease | | | | 65 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | DYM CL E G H | 54808 | 21317 | OMIM:223800 | Dyggve-Melchior-Clausen disease | | | | 65 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | EFL1 CL E G H | 79631 | 25789 | ORPHA:811 | Shwachman-Diamond syndrome | | | | 1 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | EIF2AK3 CL E G H | 9451 | 3255 | OMIM:226980 | Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus | | | | 65 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | EP300 CL E G H | 2033 | 3373 | ORPHA:353284 | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | | | | 250 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | EXT1 CL E G H | 2131 | 3512 | ORPHA:502 | Trichorhinophalangeal syndrome type 2 | | | | 96 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | EXTL3 CL E G H | 2137 | 3518 | OMIM:617425 | Immunoskeletal dysplasia with neurodevelopmental abnormalities | | | | 3 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | FN1 CL E G H | 2335 | 3778 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | | | | 9 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | FZD2 CL E G H | 2535 | 4040 | ORPHA:3107 | Autosomal dominant Robinow syndrome | | | | | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | GNPTG CL E G H | 84572 | 23026 | OMIM:252605 | Mucolipidosis III gamma | | | | 57 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 21 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | HS2ST1 CL E G H | 9653 | 5193 | OMIM:619194 | NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA | | | | | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | HSPG2 CL E G H | 3339 | 5273 | OMIM:255800 | Schwartz-jampel syndrome, type 1 | | | | 345 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | IHH CL E G H | 3549 | 5956 | OMIM:607778 | Acrocapitofemoral dysplasia | | | | 44 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | INPP5K CL E G H | 51763 | 33882 | ORPHA:559 | Marinesco-Sjögren syndrome | | | | 7 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | IYD CL E G H | 389434 | 21071 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 130 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | | | | 24 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | KIF22 CL E G H | 3835 | 6391 | OMIM:603546 | Spondyloepimetaphyseal dysplasia with joint laxity, type 2 | | | | 14 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | KIF22 CL E G H | 3835 | 6391 | ORPHA:93360 | Spondyloepimetaphyseal dysplasia with multiple dislocations | | | | 14 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | LHX3 CL E G H | 8022 | 6595 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 51 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 43 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | MATN3 CL E G H | 4148 | 6909 | OMIM:607078 | Epiphyseal dysplasia, multiple, 5 | | | | 32 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | MATN3 CL E G H | 4148 | 6909 | ORPHA:93311 | Multiple epiphyseal dysplasia type 5 | | | | 32 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | NEK9 CL E G H | 91754 | 18591 | OMIM:614262 | Arthrogryposis, perthes disease, and upward gaze palsy | | | | 9 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | PCNT CL E G H | 5116 | 16068 | OMIM:210720 | Microcephalic osteodysplastic primordial dwarfism, type II | | | | 531 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | PEX5 CL E G H | 5830 | 9719 | OMIM:616716 | RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5 | | | | 99 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | PIK3C2A CL E G H | 5286 | 8971 | ORPHA:557003 | Oculocerebrodental syndrome | | | | | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | PLOD3 CL E G H | 8985 | 9083 | OMIM:612394 | Bone fragility with contractures, arterial rupture, and deafness | | | | 5 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 36 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 54 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:212720 | Martsolf syndrome 1 | | | | 135 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | RET CL E G H | 5979 | 9967 | OMIM:162300 | Multiple endocrine neoplasia, type IIB | | | | 572 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | RINT1 CL E G H | 60561 | 21876 | OMIM:618641 | INFANTILE LIVER FAILURE SYNDROME 3; ILFS3 | | | | 99 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | | | | 15 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:616651 | Roifman syndrome | | | | 15 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | RPL13 CL E G H | 6137 | 10303 | OMIM:618728 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST | | | | | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | RSPRY1 CL E G H | 89970 | 29420 | ORPHA:457395 | Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | | | | 2 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | RSPRY1 CL E G H | 89970 | 29420 | OMIM:616723 | Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type | | | | 2 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | SBDS CL E G H | 51119 | 19440 | ORPHA:811 | Shwachman-Diamond syndrome | | | | 26 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | SBDS CL E G H | 51119 | 19440 | OMIM:260400 | Shwachman-Diamond syndrome 1 | | | | 26 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | SIL1 CL E G H | 64374 | 24624 | ORPHA:559 | Marinesco-Sjögren syndrome | | | | 67 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | SKIC3 CL E G H | 9652 | 23639 | OMIM:222470 | Trichohepatoenteric syndrome 1 | | | | | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:226900 | Epiphyseal dysplasia, multiple, 4 | | | | 166 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | SLC2A10 CL E G H | 81031 | 13444 | ORPHA:3342 | Arterial tortuosity syndrome | | | | 178 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | SLC39A13 CL E G H | 91252 | 20859 | OMIM:612350 | Ehlers-Danlos syndrome, spondylodysplastic type, 3 | | | | 24 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | SLC39A13 CL E G H | 91252 | 20859 | ORPHA:157965 | SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome | | | | 24 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | SLC5A5 CL E G H | 6528 | 11040 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 59 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | | | | 74 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | | | | 74 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | SRCAP CL E G H | 10847 | 16974 | ORPHA:2044 | Floating-Harbor syndrome | | | | 138 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | SRP54 CL E G H | 6729 | 11301 | ORPHA:811 | Shwachman-Diamond syndrome | | | | | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | SRP54 CL E G H | 6729 | 11301 | OMIM:260400 | Shwachman-Diamond syndrome 1 | | | | | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | TBC1D2B CL E G H | 23102 | 29183 | ORPHA:397973 | Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome | | | | | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | TBX4 CL E G H | 9496 | 11603 | OMIM:147891 | Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension | | | | 55 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | TG CL E G H | 7038 | 11764 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 155 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | TINF2 CL E G H | 26277 | 11824 | OMIM:613990 | Dyskeratosis congenita, autosomal dominant 3 | | | | 60 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | TONSL CL E G H | 4796 | 7801 | ORPHA:93357 | SPONASTRIME dysplasia | | | | | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | TONSL CL E G H | 4796 | 7801 | OMIM:271510 | Spondyloepimetaphyseal dysplasia, Sponastrime type | | | | | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | TPO CL E G H | 7173 | 12015 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 92 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | TRAPPC2 CL E G H | 6399 | 23068 | OMIM:313400 | Spondyloepiphyseal dysplasia tarda, X-linked | | | | 46 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | TREX1 CL E G H | 11277 | 12269 | ORPHA:247691 | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | | | | 56 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | TRPS1 CL E G H | 7227 | 12340 | ORPHA:77258 | Trichorhinophalangeal syndrome type 1 and 3 | | | | 171 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | TRPS1 CL E G H | 7227 | 12340 | ORPHA:502 | Trichorhinophalangeal syndrome type 2 | | | | 171 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | TRPS1 CL E G H | 7227 | 12340 | OMIM:190350 | Trichorhinophalangeal syndrome, type I | | | | 171 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | TRPS1 CL E G H | 7227 | 12340 | OMIM:190351 | Trichorhinophalangeal syndrome, type III | | | | 171 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:617383 | AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2; ANFH2 | | | | 214 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:184252 | Spondylometaphyseal dysplasia, Kozlowski type | | | | 214 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | TSHB CL E G H | 7252 | 12372 | ORPHA:90674 | Isolated thyroid-stimulating hormone deficiency | | | | 9 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | TSHR CL E G H | 7253 | 12373 | ORPHA:90673 | Hypothyroidism due to TSH receptor mutations | | | | 97 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | UFSP2 CL E G H | 55325 | 25640 | ORPHA:2114 | Hip dysplasia, Beukes type | | | | 2 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | UFSP2 CL E G H | 55325 | 25640 | OMIM:142669 | Hip dysplasia, Beukes type | | | | 2 | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | UNC45A CL E G H | 55898 | 30594 | OMIM:619377 | OSTEOOTOHEPATOENTERIC SYNDROME; OOHE | | | | | | |
HP:0006500 | HP:0006500 | Abnormality of lower limb epiphysis morphology | 0 | WNT5A CL E G H | 7474 | 12784 | ORPHA:3107 | Autosomal dominant Robinow syndrome | | | | 98 | | |
HP:0006500 | HP:0010593 | Abnormality of fibular epiphyses | 1 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | ACAN CL E G H | 176 | 319 | OMIM:608361 | Spondyloepiphyseal dysplasia, Kimberley type | | | | 34 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | ADAMTS2 CL E G H | 9509 | 218 | ORPHA:1901 | Dermatosparaxis Ehlers-Danlos syndrome | | | | 165 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | ADAMTSL2 CL E G H | 9719 | 14631 | ORPHA:1901 | Dermatosparaxis Ehlers-Danlos syndrome | | | | 72 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | ADAMTSL2 CL E G H | 9719 | 14631 | OMIM:231050 | Geleophysic dysplasia 1 | | | | 72 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300232 | Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration | | | | 60 | | |
HP:0006500 | HP:0010631 | Abnormality of the epiphyses of the feet | 1 | ARSL CL E G H | 415 | 719 | ORPHA:79345 | Brachytelephalangic chondrodysplasia punctata | | | | | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | ATP7A CL E G H | 538 | 869 | ORPHA:198 | Occipital horn syndrome | | | | 192 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:271640 | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | | | | 38 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | BRF1 CL E G H | 2972 | 11551 | OMIM:616202 | Cerebellofaciodental syndrome | | | | 7 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | CANT1 CL E G H | 124583 | 19721 | OMIM:617719 | EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7 | | | | 85 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | CCN6 CL E G H | 8838 | 12771 | OMIM:208230 | Arthropathy, progressive pseudorheumatoid, of childhood | | | | | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | CCN6 CL E G H | 8838 | 12771 | ORPHA:1159 | Progressive pseudorheumatoid arthropathy of childhood | | | | | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | CDC6 CL E G H | 990 | 1744 | OMIM:613805 | Meier-Gorlin syndrome 5 | | | | 31 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | CHST3 CL E G H | 9469 | 1971 | OMIM:143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | | | | 165 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | COL10A1 CL E G H | 1300 | 2185 | OMIM:156500 | Metaphyseal chondrodysplasia, Schmid type | | | | 79 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | COL11A1 CL E G H | 1301 | 2186 | OMIM:154780 | Marshall syndrome | | | | 215 | | |
HP:0006500 | HP:0006508 | Abnormality of tibial epiphyses | 1 | COL11A1 CL E G H | 1301 | 2186 | OMIM:154780 | Marshall syndrome | | | | 215 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | COL11A2 CL E G H | 1302 | 2187 | OMIM:215150 | Otospondylomegaepiphyseal dysplasia | | | | 222 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:1899 | Arthrochalasia Ehlers-Danlos syndrome | | | | 373 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | COL1A2 CL E G H | 1278 | 2198 | ORPHA:1899 | Arthrochalasia Ehlers-Danlos syndrome | | | | 243 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93296 | Achondrogenesis type 2 | | | | 284 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:608805 | Avascular necrosis of femoral head, primary, 1 | | | | 284 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:609162 | Czech dysplasia, Metatarsal type | | | | 284 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:485 | Kniest dysplasia | | | | 284 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:150600 | Legg-Calve-Perthes disease | | | | 284 | | |
HP:0006500 | HP:0006508 | Abnormality of tibial epiphyses | 1 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:166011 | Multiple epiphyseal dysplasia, Beighton type | HP:0040283 - Occasional | | | 284 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:166011 | Multiple epiphyseal dysplasia, Beighton type | | | | 284 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:85166 | Platyspondylic dysplasia, Torrance type | | | | 284 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | | | | 284 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93316 | Spondylometaphyseal dysplasia, Schmidt type | | | | 284 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:271700 | Spondyloperipheral dysplasia | | | | 284 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:108300 | Stickler syndrome, type I | . | | | 284 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | COL9A1 CL E G H | 1297 | 2217 | OMIM:614135 | Epiphyseal dysplasia, multiple, 6 | | | | 110 | | |
HP:0006500 | HP:0010631 | Abnormality of the epiphyses of the feet | 1 | COL9A1 CL E G H | 1297 | 2217 | ORPHA:166002 | Multiple epiphyseal dysplasia due to collagen 9 anomaly | HP:0040283 - Occasional | | | 110 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | COL9A1 CL E G H | 1297 | 2217 | OMIM:614134 | STICKLER SYNDROME, TYPE IV; STL4 | | | | 110 | | |
HP:0006500 | HP:0010631 | Abnormality of the epiphyses of the feet | 1 | COL9A2 CL E G H | 1298 | 2218 | ORPHA:166002 | Multiple epiphyseal dysplasia due to collagen 9 anomaly | HP:0040283 - Occasional | | | 110 | | |
HP:0006500 | HP:0010631 | Abnormality of the epiphyses of the feet | 1 | COL9A3 CL E G H | 1299 | 2219 | ORPHA:166002 | Multiple epiphyseal dysplasia due to collagen 9 anomaly | HP:0040283 - Occasional | | | 137 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | COMP CL E G H | 1311 | 2227 | OMIM:132400 | Epiphyseal dysplasia, multiple, 1 | | | | 89 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | COMP CL E G H | 1311 | 2227 | ORPHA:93308 | Multiple epiphyseal dysplasia type 1 | | | | 89 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | COMP CL E G H | 1311 | 2227 | ORPHA:750 | Pseudoachondroplasia | HP:0040283 - Occasional | | | 89 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353281 | Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | | | | 291 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353277 | Rubinstein-Taybi syndrome due to CREBBP mutations | | | | 291 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | | | | 57 | | |
HP:0006500 | HP:0006508 | Abnormality of tibial epiphyses | 1 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | DNAJC21 CL E G H | 134218 | 27030 | ORPHA:811 | Shwachman-Diamond syndrome | | | | 5 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:260400 | Shwachman-Diamond syndrome 1 | | | | 5 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | DUOX2 CL E G H | 50506 | 13273 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 121 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | DUOXA2 CL E G H | 405753 | 32698 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 11 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | DVL1 CL E G H | 1855 | 3084 | ORPHA:3107 | Autosomal dominant Robinow syndrome | | | | 14 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | DVL3 CL E G H | 1857 | 3087 | ORPHA:3107 | Autosomal dominant Robinow syndrome | | | | 5 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | DYM CL E G H | 54808 | 21317 | OMIM:223800 | Dyggve-Melchior-Clausen disease | | | | 65 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | DYM CL E G H | 54808 | 21317 | ORPHA:239 | Dyggve-Melchior-Clausen disease | | | | 65 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | EFL1 CL E G H | 79631 | 25789 | ORPHA:811 | Shwachman-Diamond syndrome | | | | 1 | | |
HP:0006500 | HP:0010631 | Abnormality of the epiphyses of the feet | 1 | EIF2AK3 CL E G H | 9451 | 3255 | OMIM:226980 | Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus | | | | 65 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | EP300 CL E G H | 2033 | 3373 | ORPHA:353284 | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | | | | 250 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | EXT1 CL E G H | 2131 | 3512 | ORPHA:502 | Trichorhinophalangeal syndrome type 2 | | | | 96 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | EXTL3 CL E G H | 2137 | 3518 | OMIM:617425 | Immunoskeletal dysplasia with neurodevelopmental abnormalities | | | | 3 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | FN1 CL E G H | 2335 | 3778 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | | | | 9 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | FZD2 CL E G H | 2535 | 4040 | ORPHA:3107 | Autosomal dominant Robinow syndrome | | | | | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | GNPTG CL E G H | 84572 | 23026 | OMIM:252605 | Mucolipidosis III gamma | | | | 57 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | HESX1 CL E G H | 8820 | 4877 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 21 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | HS2ST1 CL E G H | 9653 | 5193 | OMIM:619194 | NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA | | | | | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | HSPG2 CL E G H | 3339 | 5273 | OMIM:255800 | Schwartz-jampel syndrome, type 1 | . | | | 345 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | IHH CL E G H | 3549 | 5956 | OMIM:607778 | Acrocapitofemoral dysplasia | | | | 44 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | INPP5K CL E G H | 51763 | 33882 | ORPHA:559 | Marinesco-Sjögren syndrome | | | | 7 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | IYD CL E G H | 389434 | 21071 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 130 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | | | | 24 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | KIF22 CL E G H | 3835 | 6391 | OMIM:603546 | Spondyloepimetaphyseal dysplasia with joint laxity, type 2 | | | | 14 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | KIF22 CL E G H | 3835 | 6391 | ORPHA:93360 | Spondyloepimetaphyseal dysplasia with multiple dislocations | | | | 14 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | LHX3 CL E G H | 8022 | 6595 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 51 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | LHX4 CL E G H | 89884 | 21734 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 43 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | MATN3 CL E G H | 4148 | 6909 | OMIM:607078 | Epiphyseal dysplasia, multiple, 5 | | | | 32 | | |
HP:0006500 | HP:0010631 | Abnormality of the epiphyses of the feet | 1 | MATN3 CL E G H | 4148 | 6909 | ORPHA:93311 | Multiple epiphyseal dysplasia type 5 | HP:0040282 - Frequent | | | 32 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | MATN3 CL E G H | 4148 | 6909 | ORPHA:93311 | Multiple epiphyseal dysplasia type 5 | | | | 32 | | |
HP:0006500 | HP:0006508 | Abnormality of tibial epiphyses | 1 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | NEK9 CL E G H | 91754 | 18591 | OMIM:614262 | Arthrogryposis, perthes disease, and upward gaze palsy | | | | 9 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | PCNT CL E G H | 5116 | 16068 | OMIM:210720 | Microcephalic osteodysplastic primordial dwarfism, type II | | | | 531 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | PEX5 CL E G H | 5830 | 9719 | OMIM:616716 | RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5 | | | | 99 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | PIK3C2A CL E G H | 5286 | 8971 | ORPHA:557003 | Oculocerebrodental syndrome | | | | | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | PLOD3 CL E G H | 8985 | 9083 | OMIM:612394 | Bone fragility with contractures, arterial rupture, and deafness | | | | 5 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 36 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | PROP1 CL E G H | 5626 | 9455 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 54 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:212720 | Martsolf syndrome 1 | | | | 135 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | RET CL E G H | 5979 | 9967 | OMIM:162300 | Multiple endocrine neoplasia, type IIB | | | | 572 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | RINT1 CL E G H | 60561 | 21876 | OMIM:618641 | INFANTILE LIVER FAILURE SYNDROME 3; ILFS3 | | | | 99 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:616651 | Roifman syndrome | | | | 15 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | | | | 15 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | RPL13 CL E G H | 6137 | 10303 | OMIM:618728 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST | | | | | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | RSPRY1 CL E G H | 89970 | 29420 | ORPHA:457395 | Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | | | | 2 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | RSPRY1 CL E G H | 89970 | 29420 | OMIM:616723 | Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type | | | | 2 | | |
HP:0006500 | HP:0006508 | Abnormality of tibial epiphyses | 1 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | SBDS CL E G H | 51119 | 19440 | ORPHA:811 | Shwachman-Diamond syndrome | | | | 26 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | SBDS CL E G H | 51119 | 19440 | OMIM:260400 | Shwachman-Diamond syndrome 1 | | | | 26 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | SIL1 CL E G H | 64374 | 24624 | ORPHA:559 | Marinesco-Sjögren syndrome | | | | 67 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | SKIC3 CL E G H | 9652 | 23639 | OMIM:222470 | Trichohepatoenteric syndrome 1 | | | | | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:226900 | Epiphyseal dysplasia, multiple, 4 | | | | 166 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | SLC2A10 CL E G H | 81031 | 13444 | ORPHA:3342 | Arterial tortuosity syndrome | | | | 178 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | SLC39A13 CL E G H | 91252 | 20859 | OMIM:612350 | Ehlers-Danlos syndrome, spondylodysplastic type, 3 | | | | 24 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | SLC39A13 CL E G H | 91252 | 20859 | ORPHA:157965 | SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome | | | | 24 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | SLC5A5 CL E G H | 6528 | 11040 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 59 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | | | | 74 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | | | | 74 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | SRCAP CL E G H | 10847 | 16974 | ORPHA:2044 | Floating-Harbor syndrome | | | | 138 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | SRP54 CL E G H | 6729 | 11301 | ORPHA:811 | Shwachman-Diamond syndrome | | | | | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | SRP54 CL E G H | 6729 | 11301 | OMIM:260400 | Shwachman-Diamond syndrome 1 | | | | | | |
HP:0006500 | HP:0010631 | Abnormality of the epiphyses of the feet | 1 | TBC1D2B CL E G H | 23102 | 29183 | ORPHA:397973 | Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome | | | | | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | TBX4 CL E G H | 9496 | 11603 | OMIM:147891 | Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension | | | | 55 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | TG CL E G H | 7038 | 11764 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 155 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | TINF2 CL E G H | 26277 | 11824 | OMIM:613990 | Dyskeratosis congenita, autosomal dominant 3 | | | | 60 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | TONSL CL E G H | 4796 | 7801 | ORPHA:93357 | SPONASTRIME dysplasia | | | | | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | TONSL CL E G H | 4796 | 7801 | OMIM:271510 | Spondyloepimetaphyseal dysplasia, Sponastrime type | | | | | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | TPO CL E G H | 7173 | 12015 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 92 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | TRAPPC2 CL E G H | 6399 | 23068 | OMIM:313400 | Spondyloepiphyseal dysplasia tarda, X-linked | | | | 46 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | TREX1 CL E G H | 11277 | 12269 | ORPHA:247691 | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | | | | 56 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | TRPS1 CL E G H | 7227 | 12340 | ORPHA:77258 | Trichorhinophalangeal syndrome type 1 and 3 | | | | 171 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | TRPS1 CL E G H | 7227 | 12340 | ORPHA:502 | Trichorhinophalangeal syndrome type 2 | | | | 171 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | TRPS1 CL E G H | 7227 | 12340 | OMIM:190350 | Trichorhinophalangeal syndrome, type I | | | | 171 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | TRPS1 CL E G H | 7227 | 12340 | OMIM:190351 | Trichorhinophalangeal syndrome, type III | | | | 171 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | TRPV4 CL E G H | 59341 | 18083 | OMIM:617383 | AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2; ANFH2 | | | | 214 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | TRPV4 CL E G H | 59341 | 18083 | OMIM:184252 | Spondylometaphyseal dysplasia, Kozlowski type | | | | 214 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | TSHB CL E G H | 7252 | 12372 | ORPHA:90674 | Isolated thyroid-stimulating hormone deficiency | | | | 9 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | TSHR CL E G H | 7253 | 12373 | ORPHA:90673 | Hypothyroidism due to TSH receptor mutations | | | | 97 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | UFSP2 CL E G H | 55325 | 25640 | OMIM:142669 | Hip dysplasia, Beukes type | | | | 2 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | UFSP2 CL E G H | 55325 | 25640 | ORPHA:2114 | Hip dysplasia, Beukes type | | | | 2 | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | UNC45A CL E G H | 55898 | 30594 | OMIM:619377 | OSTEOOTOHEPATOENTERIC SYNDROME; OOHE | | | | | | |
HP:0006500 | HP:0006499 | Abnormality of femoral epiphysis | 1 | WNT5A CL E G H | 7474 | 12784 | ORPHA:3107 | Autosomal dominant Robinow syndrome | | | | 98 | | |
HP:0006500 | HP:0010595 | Abnormality of the distal fibular epiphysis | 2 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010594 | Abnormality of the proximal fibular epiphysis | 2 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010592 | Abnormality of the distal tibial epiphysis | 2 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0041189 | Fractured epiphysis of femur | 2 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010630 | Abnormality of metatarsal epiphysis | 2 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | ACAN CL E G H | 176 | 319 | OMIM:608361 | Spondyloepiphyseal dysplasia, Kimberley type | | | | 34 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | ADAMTS2 CL E G H | 9509 | 218 | ORPHA:1901 | Dermatosparaxis Ehlers-Danlos syndrome | | | | 165 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | ADAMTSL2 CL E G H | 9719 | 14631 | ORPHA:1901 | Dermatosparaxis Ehlers-Danlos syndrome | | | | 72 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | ADAMTSL2 CL E G H | 9719 | 14631 | OMIM:231050 | Geleophysic dysplasia 1 | | | | 72 | | |
HP:0006500 | HP:0006361 | Irregular femoral epiphysis | 2 | ADAMTSL2 CL E G H | 9719 | 14631 | OMIM:231050 | Geleophysic dysplasia 1 | | | | 72 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300232 | Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration | | | | 60 | | |
HP:0006500 | HP:0010160 | Abnormality of the epiphyses of the toes | 2 | ARSL CL E G H | 415 | 719 | ORPHA:79345 | Brachytelephalangic chondrodysplasia punctata | | | | | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | ATP7A CL E G H | 538 | 869 | ORPHA:198 | Occipital horn syndrome | | | | 192 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:271640 | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | | | | 38 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | BRF1 CL E G H | 2972 | 11551 | OMIM:616202 | Cerebellofaciodental syndrome | | | | 7 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | CANT1 CL E G H | 124583 | 19721 | OMIM:617719 | EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7 | | | | 85 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | CCN6 CL E G H | 8838 | 12771 | OMIM:208230 | Arthropathy, progressive pseudorheumatoid, of childhood | | | | | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | CCN6 CL E G H | 8838 | 12771 | ORPHA:1159 | Progressive pseudorheumatoid arthropathy of childhood | | | | | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | CDC6 CL E G H | 990 | 1744 | OMIM:613805 | Meier-Gorlin syndrome 5 | | | | 31 | | |
HP:0006500 | HP:0006361 | Irregular femoral epiphysis | 2 | CDC6 CL E G H | 990 | 1744 | OMIM:613805 | Meier-Gorlin syndrome 5 | . | | | 31 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | CHST3 CL E G H | 9469 | 1971 | OMIM:143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | | | | 165 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | COL10A1 CL E G H | 1300 | 2185 | OMIM:156500 | Metaphyseal chondrodysplasia, Schmid type | | | | 79 | | |
HP:0006500 | HP:0010591 | Abnormality of the proximal tibial epiphysis | 2 | COL11A1 CL E G H | 1301 | 2186 | OMIM:154780 | Marshall syndrome | | | | 215 | | |
HP:0006500 | HP:0006361 | Irregular femoral epiphysis | 2 | COL11A1 CL E G H | 1301 | 2186 | OMIM:154780 | Marshall syndrome | . | | | 215 | | |
HP:0006500 | HP:0010590 | Abnormality of the distal femoral epiphysis | 2 | COL11A1 CL E G H | 1301 | 2186 | OMIM:154780 | Marshall syndrome | | | | 215 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | COL11A2 CL E G H | 1302 | 2187 | OMIM:215150 | Otospondylomegaepiphyseal dysplasia | | | | 222 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:1899 | Arthrochalasia Ehlers-Danlos syndrome | | | | 373 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | COL1A2 CL E G H | 1278 | 2198 | ORPHA:1899 | Arthrochalasia Ehlers-Danlos syndrome | | | | 243 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93296 | Achondrogenesis type 2 | | | | 284 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | COL2A1 CL E G H | 1280 | 2200 | OMIM:608805 | Avascular necrosis of femoral head, primary, 1 | | | | 284 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | COL2A1 CL E G H | 1280 | 2200 | OMIM:609162 | Czech dysplasia, Metatarsal type | | | | 284 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:485 | Kniest dysplasia | HP:0040282 - Frequent | | | 284 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | COL2A1 CL E G H | 1280 | 2200 | OMIM:150600 | Legg-Calve-Perthes disease | | | | 284 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:166011 | Multiple epiphyseal dysplasia, Beighton type | | | | 284 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:85166 | Platyspondylic dysplasia, Torrance type | | | | 284 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | | | | 284 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93316 | Spondylometaphyseal dysplasia, Schmidt type | HP:0040282 - Frequent | | | 284 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | COL2A1 CL E G H | 1280 | 2200 | OMIM:271700 | Spondyloperipheral dysplasia | | | | 284 | | |
HP:0006500 | HP:0006361 | Irregular femoral epiphysis | 2 | COL2A1 CL E G H | 1280 | 2200 | OMIM:108300 | Stickler syndrome, type I | . | | | 284 | | |
HP:0006500 | HP:0006361 | Irregular femoral epiphysis | 2 | COL9A1 CL E G H | 1297 | 2217 | OMIM:614135 | Epiphyseal dysplasia, multiple, 6 | | | | 110 | | |
HP:0006500 | HP:0010590 | Abnormality of the distal femoral epiphysis | 2 | COL9A1 CL E G H | 1297 | 2217 | OMIM:614135 | Epiphyseal dysplasia, multiple, 6 | | | | 110 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | COL9A1 CL E G H | 1297 | 2217 | OMIM:614135 | Epiphyseal dysplasia, multiple, 6 | | | | 110 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | COL9A1 CL E G H | 1297 | 2217 | OMIM:614134 | STICKLER SYNDROME, TYPE IV; STL4 | | | | 110 | | |
HP:0006500 | HP:0006361 | Irregular femoral epiphysis | 2 | COL9A1 CL E G H | 1297 | 2217 | OMIM:614134 | STICKLER SYNDROME, TYPE IV; STL4 | | | | 110 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | COMP CL E G H | 1311 | 2227 | OMIM:132400 | Epiphyseal dysplasia, multiple, 1 | | | | 89 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | COMP CL E G H | 1311 | 2227 | ORPHA:93308 | Multiple epiphyseal dysplasia type 1 | | | | 89 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | COMP CL E G H | 1311 | 2227 | ORPHA:750 | Pseudoachondroplasia | | | | 89 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353281 | Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | | | | 291 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353277 | Rubinstein-Taybi syndrome due to CREBBP mutations | | | | 291 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | | | | 57 | | |
HP:0006500 | HP:0010591 | Abnormality of the proximal tibial epiphysis | 2 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | DNAJC21 CL E G H | 134218 | 27030 | ORPHA:811 | Shwachman-Diamond syndrome | | | | 5 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:260400 | Shwachman-Diamond syndrome 1 | | | | 5 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | DUOX2 CL E G H | 50506 | 13273 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 121 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | DUOXA2 CL E G H | 405753 | 32698 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 11 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | DVL1 CL E G H | 1855 | 3084 | ORPHA:3107 | Autosomal dominant Robinow syndrome | | | | 14 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | DVL3 CL E G H | 1857 | 3087 | ORPHA:3107 | Autosomal dominant Robinow syndrome | | | | 5 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | DYM CL E G H | 54808 | 21317 | ORPHA:239 | Dyggve-Melchior-Clausen disease | | | | 65 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | DYM CL E G H | 54808 | 21317 | OMIM:223800 | Dyggve-Melchior-Clausen disease | | | | 65 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | EFL1 CL E G H | 79631 | 25789 | ORPHA:811 | Shwachman-Diamond syndrome | | | | 1 | | |
HP:0006500 | HP:0010160 | Abnormality of the epiphyses of the toes | 2 | EIF2AK3 CL E G H | 9451 | 3255 | OMIM:226980 | Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus | | | | 65 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | EP300 CL E G H | 2033 | 3373 | ORPHA:353284 | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | | | | 250 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | EXT1 CL E G H | 2131 | 3512 | ORPHA:502 | Trichorhinophalangeal syndrome type 2 | | | | 96 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | EXTL3 CL E G H | 2137 | 3518 | OMIM:617425 | Immunoskeletal dysplasia with neurodevelopmental abnormalities | | | | 3 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | FN1 CL E G H | 2335 | 3778 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | | | | 9 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | FZD2 CL E G H | 2535 | 4040 | ORPHA:3107 | Autosomal dominant Robinow syndrome | | | | | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | GNPTG CL E G H | 84572 | 23026 | OMIM:252605 | Mucolipidosis III gamma | | | | 57 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | HESX1 CL E G H | 8820 | 4877 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 21 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | HS2ST1 CL E G H | 9653 | 5193 | OMIM:619194 | NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA | | | | | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | IHH CL E G H | 3549 | 5956 | OMIM:607778 | Acrocapitofemoral dysplasia | | | | 44 | | |
HP:0006500 | HP:0010590 | Abnormality of the distal femoral epiphysis | 2 | IHH CL E G H | 3549 | 5956 | OMIM:607778 | Acrocapitofemoral dysplasia | | | | 44 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | INPP5K CL E G H | 51763 | 33882 | ORPHA:559 | Marinesco-Sjögren syndrome | | | | 7 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | IYD CL E G H | 389434 | 21071 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 130 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | | | | 24 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | KIF22 CL E G H | 3835 | 6391 | OMIM:603546 | Spondyloepimetaphyseal dysplasia with joint laxity, type 2 | | | | 14 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | KIF22 CL E G H | 3835 | 6391 | ORPHA:93360 | Spondyloepimetaphyseal dysplasia with multiple dislocations | | | | 14 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | LHX3 CL E G H | 8022 | 6595 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 51 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | LHX4 CL E G H | 89884 | 21734 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 43 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | MATN3 CL E G H | 4148 | 6909 | OMIM:607078 | Epiphyseal dysplasia, multiple, 5 | | | | 32 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | MATN3 CL E G H | 4148 | 6909 | ORPHA:93311 | Multiple epiphyseal dysplasia type 5 | | | | 32 | | |
HP:0006500 | HP:0010591 | Abnormality of the proximal tibial epiphysis | 2 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | NEK9 CL E G H | 91754 | 18591 | OMIM:614262 | Arthrogryposis, perthes disease, and upward gaze palsy | | | | 9 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | PCNT CL E G H | 5116 | 16068 | OMIM:210720 | Microcephalic osteodysplastic primordial dwarfism, type II | | | | 531 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | PEX5 CL E G H | 5830 | 9719 | OMIM:616716 | RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5 | | | | 99 | | |
HP:0006500 | HP:0006361 | Irregular femoral epiphysis | 2 | PEX5 CL E G H | 5830 | 9719 | OMIM:616716 | RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5 | | | | 99 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | PIK3C2A CL E G H | 5286 | 8971 | ORPHA:557003 | Oculocerebrodental syndrome | | | | | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | PLOD3 CL E G H | 8985 | 9083 | OMIM:612394 | Bone fragility with contractures, arterial rupture, and deafness | | | | 5 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 36 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | PROP1 CL E G H | 5626 | 9455 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 54 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:212720 | Martsolf syndrome 1 | | | | 135 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | RET CL E G H | 5979 | 9967 | OMIM:162300 | Multiple endocrine neoplasia, type IIB | | | | 572 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | RINT1 CL E G H | 60561 | 21876 | OMIM:618641 | INFANTILE LIVER FAILURE SYNDROME 3; ILFS3 | | | | 99 | | |
HP:0006500 | HP:0006361 | Irregular femoral epiphysis | 2 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | | | | 15 | | |
HP:0006500 | HP:0006361 | Irregular femoral epiphysis | 2 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:616651 | Roifman syndrome | | | | 15 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | | | | 15 | | |
HP:0006500 | HP:0006361 | Irregular femoral epiphysis | 2 | RPL13 CL E G H | 6137 | 10303 | OMIM:618728 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST | | | | | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | RSPRY1 CL E G H | 89970 | 29420 | ORPHA:457395 | Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | | | | 2 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | RSPRY1 CL E G H | 89970 | 29420 | OMIM:616723 | Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type | | | | 2 | | |
HP:0006500 | HP:0010591 | Abnormality of the proximal tibial epiphysis | 2 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | SBDS CL E G H | 51119 | 19440 | ORPHA:811 | Shwachman-Diamond syndrome | | | | 26 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | SBDS CL E G H | 51119 | 19440 | OMIM:260400 | Shwachman-Diamond syndrome 1 | | | | 26 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | SIL1 CL E G H | 64374 | 24624 | ORPHA:559 | Marinesco-Sjögren syndrome | | | | 67 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | SKIC3 CL E G H | 9652 | 23639 | OMIM:222470 | Trichohepatoenteric syndrome 1 | | | | | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:226900 | Epiphyseal dysplasia, multiple, 4 | | | | 166 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | SLC2A10 CL E G H | 81031 | 13444 | ORPHA:3342 | Arterial tortuosity syndrome | | | | 178 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | SLC39A13 CL E G H | 91252 | 20859 | OMIM:612350 | Ehlers-Danlos syndrome, spondylodysplastic type, 3 | | | | 24 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | SLC39A13 CL E G H | 91252 | 20859 | ORPHA:157965 | SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome | | | | 24 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | SLC5A5 CL E G H | 6528 | 11040 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 59 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | | | | 74 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | | | | 74 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | SRCAP CL E G H | 10847 | 16974 | ORPHA:2044 | Floating-Harbor syndrome | | | | 138 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | SRP54 CL E G H | 6729 | 11301 | ORPHA:811 | Shwachman-Diamond syndrome | | | | | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | SRP54 CL E G H | 6729 | 11301 | OMIM:260400 | Shwachman-Diamond syndrome 1 | | | | | | |
HP:0006500 | HP:0010160 | Abnormality of the epiphyses of the toes | 2 | TBC1D2B CL E G H | 23102 | 29183 | ORPHA:397973 | Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome | | | | | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | TBX4 CL E G H | 9496 | 11603 | OMIM:147891 | Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension | | | | 55 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | TG CL E G H | 7038 | 11764 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 155 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | TINF2 CL E G H | 26277 | 11824 | OMIM:613990 | Dyskeratosis congenita, autosomal dominant 3 | | | | 60 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | TONSL CL E G H | 4796 | 7801 | ORPHA:93357 | SPONASTRIME dysplasia | | | | | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | TONSL CL E G H | 4796 | 7801 | OMIM:271510 | Spondyloepimetaphyseal dysplasia, Sponastrime type | | | | | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | TPO CL E G H | 7173 | 12015 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 92 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | TRAPPC2 CL E G H | 6399 | 23068 | OMIM:313400 | Spondyloepiphyseal dysplasia tarda, X-linked | | | | 46 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | TREX1 CL E G H | 11277 | 12269 | ORPHA:247691 | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | | | | 56 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | TRPS1 CL E G H | 7227 | 12340 | ORPHA:77258 | Trichorhinophalangeal syndrome type 1 and 3 | | | | 171 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | TRPS1 CL E G H | 7227 | 12340 | ORPHA:502 | Trichorhinophalangeal syndrome type 2 | | | | 171 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | TRPS1 CL E G H | 7227 | 12340 | OMIM:190350 | Trichorhinophalangeal syndrome, type I | | | | 171 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | TRPS1 CL E G H | 7227 | 12340 | OMIM:190351 | Trichorhinophalangeal syndrome, type III | | | | 171 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | TRPV4 CL E G H | 59341 | 18083 | OMIM:617383 | AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2; ANFH2 | | | | 214 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | TRPV4 CL E G H | 59341 | 18083 | OMIM:184252 | Spondylometaphyseal dysplasia, Kozlowski type | | | | 214 | | |
HP:0006500 | HP:0006361 | Irregular femoral epiphysis | 2 | TRPV4 CL E G H | 59341 | 18083 | OMIM:184252 | Spondylometaphyseal dysplasia, Kozlowski type | | | | 214 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | TSHB CL E G H | 7252 | 12372 | ORPHA:90674 | Isolated thyroid-stimulating hormone deficiency | | | | 9 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | TSHR CL E G H | 7253 | 12373 | ORPHA:90673 | Hypothyroidism due to TSH receptor mutations | | | | 97 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | UFSP2 CL E G H | 55325 | 25640 | OMIM:142669 | Hip dysplasia, Beukes type | | | | 2 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | UFSP2 CL E G H | 55325 | 25640 | ORPHA:2114 | Hip dysplasia, Beukes type | HP:0040281 - Very frequent | | | 2 | | |
HP:0006500 | HP:0006361 | Irregular femoral epiphysis | 2 | UFSP2 CL E G H | 55325 | 25640 | OMIM:142669 | Hip dysplasia, Beukes type | | | | 2 | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | UNC45A CL E G H | 55898 | 30594 | OMIM:619377 | OSTEOOTOHEPATOENTERIC SYNDROME; OOHE | | | | | | |
HP:0006500 | HP:0010574 | Abnormality of the epiphysis of the femoral head | 2 | WNT5A CL E G H | 7474 | 12784 | ORPHA:3107 | Autosomal dominant Robinow syndrome | | | | 98 | | |
HP:0006500 | HP:0041195 | Fractured epiphysis of third metatarsal bone | 3 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010169 | Pseudoepiphyses of the toes | 3 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0041194 | Fractured epiphysis of second metatarsal bone | 3 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010167 | Irregular epiphyses of the toes | 3 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010166 | Fragmentation of the epiphyses of the toes | 3 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010151 | Cone-shaped epiphysis of the 1st metatarsal | 3 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010056 | Abnormality of the epiphyses of the hallux | 3 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010165 | Enlarged epiphyses of the toes | 3 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010341 | Abnormality of the epiphyses of the 5th toe | 3 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0041091 | Avulsion fractured epiphysis of femur | 3 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010163 | Bracket epiphyses of the toes | 3 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010172 | Triangular epiphyses of the toes | 3 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010162 | Absent epiphyses of the toes | 3 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0041210 | Fractured lateral malleolus of fibula | 3 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010170 | Small epiphyses of the toes | 3 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0003370 | Flat capital femoral epiphysis | 3 | ACAN CL E G H | 176 | 319 | OMIM:608361 | Spondyloepiphyseal dysplasia, Kimberley type | . | | | 34 | | |
HP:0006500 | HP:0005743 | Avascular necrosis of the capital femoral epiphysis | 3 | ADAMTS2 CL E G H | 9509 | 218 | ORPHA:1901 | Dermatosparaxis Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 165 | | |
HP:0006500 | HP:0005743 | Avascular necrosis of the capital femoral epiphysis | 3 | ADAMTSL2 CL E G H | 9719 | 14631 | ORPHA:1901 | Dermatosparaxis Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 72 | | |
HP:0006500 | HP:0005003 | Aplasia/Hypoplasia of the capital femoral epiphysis | 3 | ADAMTSL2 CL E G H | 9719 | 14631 | OMIM:231050 | Geleophysic dysplasia 1 | | | | 72 | | |
HP:0006500 | HP:0005041 | Irregular capital femoral epiphysis | 3 | ADAMTSL2 CL E G H | 9719 | 14631 | OMIM:231050 | Geleophysic dysplasia 1 | . | | | 72 | | |
HP:0006500 | HP:0008789 | Cone-shaped capital femoral epiphysis | 3 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300232 | Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration | . | | | 60 | | |
HP:0006500 | HP:0010171 | Epiphyseal stippling of toe phalanges | 3 | ARSL CL E G H | 415 | 719 | ORPHA:79345 | Brachytelephalangic chondrodysplasia punctata | HP:0040283 - Occasional | | | | | |
HP:0006500 | HP:0005743 | Avascular necrosis of the capital femoral epiphysis | 3 | ATP7A CL E G H | 538 | 869 | ORPHA:198 | Occipital horn syndrome | HP:0040283 - Occasional | | | 192 | | |
HP:0006500 | HP:0008828 | Delayed proximal femoral epiphyseal ossification | 3 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:271640 | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | . | | | 38 | | |
HP:0006500 | HP:0006461 | Proximal femoral epiphysiolysis | 3 | BRF1 CL E G H | 2972 | 11551 | OMIM:616202 | Cerebellofaciodental syndrome | | | | 7 | | |
HP:0006500 | HP:0005003 | Aplasia/Hypoplasia of the capital femoral epiphysis | 3 | CANT1 CL E G H | 124583 | 19721 | OMIM:617719 | EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7 | | | | 85 | | |
HP:0006500 | HP:0003371 | Enlargement of the proximal femoral epiphysis | 3 | CCN6 CL E G H | 8838 | 12771 | OMIM:208230 | Arthropathy, progressive pseudorheumatoid, of childhood | . | | | | | |
HP:0006500 | HP:0003371 | Enlargement of the proximal femoral epiphysis | 3 | CCN6 CL E G H | 8838 | 12771 | ORPHA:1159 | Progressive pseudorheumatoid arthropathy of childhood | HP:0040283 - Occasional | | | | | |
HP:0006500 | HP:0003370 | Flat capital femoral epiphysis | 3 | CCN6 CL E G H | 8838 | 12771 | ORPHA:1159 | Progressive pseudorheumatoid arthropathy of childhood | HP:0040283 - Occasional | | | | | |
HP:0006500 | HP:0005003 | Aplasia/Hypoplasia of the capital femoral epiphysis | 3 | CDC6 CL E G H | 990 | 1744 | OMIM:613805 | Meier-Gorlin syndrome 5 | | | | 31 | | |
HP:0006500 | HP:0005003 | Aplasia/Hypoplasia of the capital femoral epiphysis | 3 | CHST3 CL E G H | 9469 | 1971 | OMIM:143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | | | | 165 | | |
HP:0006500 | HP:0003371 | Enlargement of the proximal femoral epiphysis | 3 | COL10A1 CL E G H | 1300 | 2185 | OMIM:156500 | Metaphyseal chondrodysplasia, Schmid type | . | | | 79 | | |
HP:0006500 | HP:0012284 | Small proximal tibial epiphyses | 3 | COL11A1 CL E G H | 1301 | 2186 | OMIM:154780 | Marshall syndrome | . | | | 215 | | |
HP:0006500 | HP:0006407 | Irregular distal femoral epiphysis | 3 | COL11A1 CL E G H | 1301 | 2186 | OMIM:154780 | Marshall syndrome | . | | | 215 | | |
HP:0006500 | HP:0012283 | Small distal femoral epiphysis | 3 | COL11A1 CL E G H | 1301 | 2186 | OMIM:154780 | Marshall syndrome | . | | | 215 | | |
HP:0006500 | HP:0006456 | Irregular proximal tibial epiphyses | 3 | COL11A1 CL E G H | 1301 | 2186 | OMIM:154780 | Marshall syndrome | . | | | 215 | | |
HP:0006500 | HP:0005003 | Aplasia/Hypoplasia of the capital femoral epiphysis | 3 | COL11A2 CL E G H | 1302 | 2187 | OMIM:215150 | Otospondylomegaepiphyseal dysplasia | . | | | 222 | | |
HP:0006500 | HP:0005743 | Avascular necrosis of the capital femoral epiphysis | 3 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:1899 | Arthrochalasia Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 373 | | |
HP:0006500 | HP:0005743 | Avascular necrosis of the capital femoral epiphysis | 3 | COL1A2 CL E G H | 1278 | 2198 | ORPHA:1899 | Arthrochalasia Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 243 | | |
HP:0006500 | HP:0008828 | Delayed proximal femoral epiphyseal ossification | 3 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93296 | Achondrogenesis type 2 | HP:0040282 - Frequent | | | 284 | | |
HP:0006500 | HP:0005743 | Avascular necrosis of the capital femoral epiphysis | 3 | COL2A1 CL E G H | 1280 | 2200 | OMIM:608805 | Avascular necrosis of femoral head, primary, 1 | . | | | 284 | | |
HP:0006500 | HP:0003370 | Flat capital femoral epiphysis | 3 | COL2A1 CL E G H | 1280 | 2200 | OMIM:609162 | Czech dysplasia, Metatarsal type | . | | | 284 | | |
HP:0006500 | HP:0005743 | Avascular necrosis of the capital femoral epiphysis | 3 | COL2A1 CL E G H | 1280 | 2200 | OMIM:150600 | Legg-Calve-Perthes disease | . | | | 284 | | |
HP:0006500 | HP:0003370 | Flat capital femoral epiphysis | 3 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:166011 | Multiple epiphyseal dysplasia, Beighton type | HP:0040283 - Occasional | | | 284 | | |
HP:0006500 | HP:0005003 | Aplasia/Hypoplasia of the capital femoral epiphysis | 3 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:85166 | Platyspondylic dysplasia, Torrance type | | | | 284 | | |
HP:0006500 | HP:0005743 | Avascular necrosis of the capital femoral epiphysis | 3 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | HP:0040284 - Very rare | | | 284 | | |
HP:0006500 | HP:0003370 | Flat capital femoral epiphysis | 3 | COL2A1 CL E G H | 1280 | 2200 | OMIM:271700 | Spondyloperipheral dysplasia | . | | | 284 | | |
HP:0006500 | HP:0006407 | Irregular distal femoral epiphysis | 3 | COL9A1 CL E G H | 1297 | 2217 | OMIM:614135 | Epiphyseal dysplasia, multiple, 6 | | | | 110 | | |
HP:0006500 | HP:0006398 | Flat distal femoral epiphysis | 3 | COL9A1 CL E G H | 1297 | 2217 | OMIM:614135 | Epiphyseal dysplasia, multiple, 6 | | | | 110 | | |
HP:0006500 | HP:0003370 | Flat capital femoral epiphysis | 3 | COL9A1 CL E G H | 1297 | 2217 | OMIM:614135 | Epiphyseal dysplasia, multiple, 6 | | | | 110 | | |
HP:0006500 | HP:0003370 | Flat capital femoral epiphysis | 3 | COL9A1 CL E G H | 1297 | 2217 | OMIM:614134 | STICKLER SYNDROME, TYPE IV; STL4 | | | | 110 | | |
HP:0006500 | HP:0005041 | Irregular capital femoral epiphysis | 3 | COL9A1 CL E G H | 1297 | 2217 | OMIM:614134 | STICKLER SYNDROME, TYPE IV; STL4 | | | | 110 | | |
HP:0006500 | HP:0005743 | Avascular necrosis of the capital femoral epiphysis | 3 | COMP CL E G H | 1311 | 2227 | OMIM:132400 | Epiphyseal dysplasia, multiple, 1 | . | | | 89 | | |
HP:0006500 | HP:0005743 | Avascular necrosis of the capital femoral epiphysis | 3 | COMP CL E G H | 1311 | 2227 | ORPHA:93308 | Multiple epiphyseal dysplasia type 1 | HP:0040284 - Very rare | | | 89 | | |
HP:0006500 | HP:0005003 | Aplasia/Hypoplasia of the capital femoral epiphysis | 3 | COMP CL E G H | 1311 | 2227 | ORPHA:750 | Pseudoachondroplasia | | | | 89 | | |
HP:0006500 | HP:0005743 | Avascular necrosis of the capital femoral epiphysis | 3 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353281 | Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | HP:0040283 - Occasional | | | 291 | | |
HP:0006500 | HP:0005743 | Avascular necrosis of the capital femoral epiphysis | 3 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353277 | Rubinstein-Taybi syndrome due to CREBBP mutations | HP:0040283 - Occasional | | | 291 | | |
HP:0006500 | HP:0008797 | Early ossification of capital femoral epiphyses | 3 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 57 | | |
HP:0006500 | HP:0012284 | Small proximal tibial epiphyses | 3 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0006500 | HP:0006461 | Proximal femoral epiphysiolysis | 3 | DNAJC21 CL E G H | 134218 | 27030 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040284 - Very rare | | | 5 | | |
HP:0006500 | HP:0006461 | Proximal femoral epiphysiolysis | 3 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | 5 | | |
HP:0006500 | HP:0008828 | Delayed proximal femoral epiphyseal ossification | 3 | DUOX2 CL E G H | 50506 | 13273 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040282 - Frequent | | | 121 | | |
HP:0006500 | HP:0008828 | Delayed proximal femoral epiphyseal ossification | 3 | DUOXA2 CL E G H | 405753 | 32698 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040282 - Frequent | | | 11 | | |
HP:0006500 | HP:0005743 | Avascular necrosis of the capital femoral epiphysis | 3 | DVL1 CL E G H | 1855 | 3084 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0006500 | HP:0005743 | Avascular necrosis of the capital femoral epiphysis | 3 | DVL3 CL E G H | 1857 | 3087 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0006500 | HP:0006450 | Multicentric ossification of proximal femoral epiphyses | 3 | DYM CL E G H | 54808 | 21317 | OMIM:223800 | Dyggve-Melchior-Clausen disease | . | | | 65 | | |
HP:0006500 | HP:0005003 | Aplasia/Hypoplasia of the capital femoral epiphysis | 3 | DYM CL E G H | 54808 | 21317 | ORPHA:239 | Dyggve-Melchior-Clausen disease | | | | 65 | | |
HP:0006500 | HP:0006461 | Proximal femoral epiphysiolysis | 3 | EFL1 CL E G H | 79631 | 25789 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040284 - Very rare | | | 1 | | |
HP:0006500 | HP:0010168 | Ivory epiphyses of the toes | 3 | EIF2AK3 CL E G H | 9451 | 3255 | OMIM:226980 | Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus | . | | | 65 | | |
HP:0006500 | HP:0005743 | Avascular necrosis of the capital femoral epiphysis | 3 | EP300 CL E G H | 2033 | 3373 | ORPHA:353284 | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | HP:0040283 - Occasional | | | 250 | | |
HP:0006500 | HP:0005743 | Avascular necrosis of the capital femoral epiphysis | 3 | EXT1 CL E G H | 2131 | 3512 | ORPHA:502 | Trichorhinophalangeal syndrome type 2 | HP:0040283 - Occasional | | | 96 | | |
HP:0006500 | HP:0005003 | Aplasia/Hypoplasia of the capital femoral epiphysis | 3 | EXTL3 CL E G H | 2137 | 3518 | OMIM:617425 | Immunoskeletal dysplasia with neurodevelopmental abnormalities | | | | 3 | | |
HP:0006500 | HP:0005743 | Avascular necrosis of the capital femoral epiphysis | 3 | FN1 CL E G H | 2335 | 3778 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | HP:0040284 - Very rare | | | 9 | | |
HP:0006500 | HP:0005743 | Avascular necrosis of the capital femoral epiphysis | 3 | FZD2 CL E G H | 2535 | 4040 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | | | |
HP:0006500 | HP:0003370 | Flat capital femoral epiphysis | 3 | GNPTG CL E G H | 84572 | 23026 | OMIM:252605 | Mucolipidosis III gamma | . | | | 57 | | |
HP:0006500 | HP:0008828 | Delayed proximal femoral epiphyseal ossification | 3 | HESX1 CL E G H | 8820 | 4877 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040282 - Frequent | | | 21 | | |
HP:0006500 | HP:0005003 | Aplasia/Hypoplasia of the capital femoral epiphysis | 3 | HS2ST1 CL E G H | 9653 | 5193 | OMIM:619194 | NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA | | | | | | |
HP:0006500 | HP:0005003 | Aplasia/Hypoplasia of the capital femoral epiphysis | 3 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0006500 | HP:0006438 | Enlargement of the distal femoral epiphysis | 3 | IHH CL E G H | 3549 | 5956 | OMIM:607778 | Acrocapitofemoral dysplasia | | | | 44 | | |
HP:0006500 | HP:0008789 | Cone-shaped capital femoral epiphysis | 3 | IHH CL E G H | 3549 | 5956 | OMIM:607778 | Acrocapitofemoral dysplasia | | | | 44 | | |
HP:0006500 | HP:0005743 | Avascular necrosis of the capital femoral epiphysis | 3 | INPP5K CL E G H | 51763 | 33882 | ORPHA:559 | Marinesco-Sjögren syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0006500 | HP:0008828 | Delayed proximal femoral epiphyseal ossification | 3 | IYD CL E G H | 389434 | 21071 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040282 - Frequent | | | 130 | | |
HP:0006500 | HP:0008797 | Early ossification of capital femoral epiphyses | 3 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 24 | | |
HP:0006500 | HP:0003370 | Flat capital femoral epiphysis | 3 | KIF22 CL E G H | 3835 | 6391 | OMIM:603546 | Spondyloepimetaphyseal dysplasia with joint laxity, type 2 | . | | | 14 | | |
HP:0006500 | HP:0005003 | Aplasia/Hypoplasia of the capital femoral epiphysis | 3 | KIF22 CL E G H | 3835 | 6391 | OMIM:603546 | Spondyloepimetaphyseal dysplasia with joint laxity, type 2 | | | | 14 | | |
HP:0006500 | HP:0003370 | Flat capital femoral epiphysis | 3 | KIF22 CL E G H | 3835 | 6391 | ORPHA:93360 | Spondyloepimetaphyseal dysplasia with multiple dislocations | HP:0040283 - Occasional | | | 14 | | |
HP:0006500 | HP:0008828 | Delayed proximal femoral epiphyseal ossification | 3 | LHX3 CL E G H | 8022 | 6595 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040282 - Frequent | | | 51 | | |
HP:0006500 | HP:0008828 | Delayed proximal femoral epiphyseal ossification | 3 | LHX4 CL E G H | 89884 | 21734 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040282 - Frequent | | | 43 | | |
HP:0006500 | HP:0005003 | Aplasia/Hypoplasia of the capital femoral epiphysis | 3 | MATN3 CL E G H | 4148 | 6909 | OMIM:607078 | Epiphyseal dysplasia, multiple, 5 | | | | 32 | | |
HP:0006500 | HP:0005743 | Avascular necrosis of the capital femoral epiphysis | 3 | MATN3 CL E G H | 4148 | 6909 | ORPHA:93311 | Multiple epiphyseal dysplasia type 5 | HP:0040283 - Occasional | | | 32 | | |
HP:0006500 | HP:0008828 | Delayed proximal femoral epiphyseal ossification | 3 | MATN3 CL E G H | 4148 | 6909 | ORPHA:93311 | Multiple epiphyseal dysplasia type 5 | HP:0040281 - Very frequent | | | 32 | | |
HP:0006500 | HP:0012284 | Small proximal tibial epiphyses | 3 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0006500 | HP:0005743 | Avascular necrosis of the capital femoral epiphysis | 3 | NEK9 CL E G H | 91754 | 18591 | OMIM:614262 | Arthrogryposis, perthes disease, and upward gaze palsy | | | | 9 | | |
HP:0006500 | HP:0006461 | Proximal femoral epiphysiolysis | 3 | PCNT CL E G H | 5116 | 16068 | OMIM:210720 | Microcephalic osteodysplastic primordial dwarfism, type II | . | | | 531 | | |
HP:0006500 | HP:0005041 | Irregular capital femoral epiphysis | 3 | PEX5 CL E G H | 5830 | 9719 | OMIM:616716 | RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5 | | | | 99 | | |
HP:0006500 | HP:0005003 | Aplasia/Hypoplasia of the capital femoral epiphysis | 3 | PIK3C2A CL E G H | 5286 | 8971 | ORPHA:557003 | Oculocerebrodental syndrome | | | | | | |
HP:0006500 | HP:0005003 | Aplasia/Hypoplasia of the capital femoral epiphysis | 3 | PLOD3 CL E G H | 8985 | 9083 | OMIM:612394 | Bone fragility with contractures, arterial rupture, and deafness | | | | 5 | | |
HP:0006500 | HP:0008828 | Delayed proximal femoral epiphyseal ossification | 3 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040282 - Frequent | | | 36 | | |
HP:0006500 | HP:0008828 | Delayed proximal femoral epiphyseal ossification | 3 | PROP1 CL E G H | 5626 | 9455 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040282 - Frequent | | | 54 | | |
HP:0006500 | HP:0005743 | Avascular necrosis of the capital femoral epiphysis | 3 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:212720 | Martsolf syndrome 1 | | | | 135 | | |
HP:0006500 | HP:0006461 | Proximal femoral epiphysiolysis | 3 | RET CL E G H | 5979 | 9967 | OMIM:162300 | Multiple endocrine neoplasia, type IIB | . | | | 572 | | |
HP:0006500 | HP:0005041 | Irregular capital femoral epiphysis | 3 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | HP:0040282 - Frequent | | | 15 | | |
HP:0006500 | HP:0008828 | Delayed proximal femoral epiphyseal ossification | 3 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | HP:0040282 - Frequent | | | 15 | | |
HP:0006500 | HP:0006461 | Proximal femoral epiphysiolysis | 3 | RSPRY1 CL E G H | 89970 | 29420 | ORPHA:457395 | Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0006500 | HP:0006461 | Proximal femoral epiphysiolysis | 3 | RSPRY1 CL E G H | 89970 | 29420 | OMIM:616723 | Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type | . | | | 2 | | |
HP:0006500 | HP:0012284 | Small proximal tibial epiphyses | 3 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | | | |
HP:0006500 | HP:0006461 | Proximal femoral epiphysiolysis | 3 | SBDS CL E G H | 51119 | 19440 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040284 - Very rare | | | 26 | | |
HP:0006500 | HP:0006461 | Proximal femoral epiphysiolysis | 3 | SBDS CL E G H | 51119 | 19440 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | 26 | | |
HP:0006500 | HP:0005743 | Avascular necrosis of the capital femoral epiphysis | 3 | SIL1 CL E G H | 64374 | 24624 | ORPHA:559 | Marinesco-Sjögren syndrome | HP:0040282 - Frequent | | | 67 | | |
HP:0006500 | HP:0005743 | Avascular necrosis of the capital femoral epiphysis | 3 | SKIC3 CL E G H | 9652 | 23639 | OMIM:222470 | Trichohepatoenteric syndrome 1 | | | | | | |
HP:0006500 | HP:0003370 | Flat capital femoral epiphysis | 3 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:226900 | Epiphyseal dysplasia, multiple, 4 | . | | | 166 | | |
HP:0006500 | HP:0005743 | Avascular necrosis of the capital femoral epiphysis | 3 | SLC2A10 CL E G H | 81031 | 13444 | ORPHA:3342 | Arterial tortuosity syndrome | HP:0040283 - Occasional | | | 178 | | |
HP:0006500 | HP:0003370 | Flat capital femoral epiphysis | 3 | SLC39A13 CL E G H | 91252 | 20859 | OMIM:612350 | Ehlers-Danlos syndrome, spondylodysplastic type, 3 | . | | | 24 | | |
HP:0006500 | HP:0003370 | Flat capital femoral epiphysis | 3 | SLC39A13 CL E G H | 91252 | 20859 | ORPHA:157965 | SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 24 | | |
HP:0006500 | HP:0008828 | Delayed proximal femoral epiphyseal ossification | 3 | SLC5A5 CL E G H | 6528 | 11040 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040282 - Frequent | | | 59 | | |
HP:0006500 | HP:0005003 | Aplasia/Hypoplasia of the capital femoral epiphysis | 3 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | | | | 74 | | |
HP:0006500 | HP:0008784 | Wide capital femoral epiphyses | 3 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | HP:0040282 - Frequent | | | 74 | | |
HP:0006500 | HP:0005743 | Avascular necrosis of the capital femoral epiphysis | 3 | SRCAP CL E G H | 10847 | 16974 | ORPHA:2044 | Floating-Harbor syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0006500 | HP:0006461 | Proximal femoral epiphysiolysis | 3 | SRP54 CL E G H | 6729 | 11301 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040284 - Very rare | | | | | |
HP:0006500 | HP:0006461 | Proximal femoral epiphysiolysis | 3 | SRP54 CL E G H | 6729 | 11301 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | | | |
HP:0006500 | HP:0010329 | Abnormality of the epiphyses of the 3rd toe | 3 | TBC1D2B CL E G H | 23102 | 29183 | ORPHA:397973 | Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome | | | | | | |
HP:0006500 | HP:0010323 | Abnormality of the epiphyses of the 2nd toe | 3 | TBC1D2B CL E G H | 23102 | 29183 | ORPHA:397973 | Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome | | | | | | |
HP:0006500 | HP:0010164 | Cone-shaped epiphyses of the toes | 3 | TBC1D2B CL E G H | 23102 | 29183 | ORPHA:397973 | Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome | HP:0040282 - Frequent | | | | | |
HP:0006500 | HP:0010335 | Abnormality of the epiphyses of the 4th toe | 3 | TBC1D2B CL E G H | 23102 | 29183 | ORPHA:397973 | Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome | | | | | | |
HP:0006500 | HP:0003370 | Flat capital femoral epiphysis | 3 | TBX4 CL E G H | 9496 | 11603 | OMIM:147891 | Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension | . | | | 55 | | |
HP:0006500 | HP:0008784 | Wide capital femoral epiphyses | 3 | TBX4 CL E G H | 9496 | 11603 | OMIM:147891 | Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension | . | | | 55 | | |
HP:0006500 | HP:0008828 | Delayed proximal femoral epiphyseal ossification | 3 | TG CL E G H | 7038 | 11764 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040282 - Frequent | | | 155 | | |
HP:0006500 | HP:0005743 | Avascular necrosis of the capital femoral epiphysis | 3 | TINF2 CL E G H | 26277 | 11824 | OMIM:613990 | Dyskeratosis congenita, autosomal dominant 3 | | | | 60 | | |
HP:0006500 | HP:0005743 | Avascular necrosis of the capital femoral epiphysis | 3 | TONSL CL E G H | 4796 | 7801 | ORPHA:93357 | SPONASTRIME dysplasia | HP:0040283 - Occasional | | | | | |
HP:0006500 | HP:0003370 | Flat capital femoral epiphysis | 3 | TONSL CL E G H | 4796 | 7801 | ORPHA:93357 | SPONASTRIME dysplasia | HP:0040283 - Occasional | | | | | |
HP:0006500 | HP:0003370 | Flat capital femoral epiphysis | 3 | TONSL CL E G H | 4796 | 7801 | OMIM:271510 | Spondyloepimetaphyseal dysplasia, Sponastrime type | . | | | | | |
HP:0006500 | HP:0008828 | Delayed proximal femoral epiphyseal ossification | 3 | TPO CL E G H | 7173 | 12015 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040282 - Frequent | | | 92 | | |
HP:0006500 | HP:0005003 | Aplasia/Hypoplasia of the capital femoral epiphysis | 3 | TRAPPC2 CL E G H | 6399 | 23068 | OMIM:313400 | Spondyloepiphyseal dysplasia tarda, X-linked | | | | 46 | | |
HP:0006500 | HP:0005743 | Avascular necrosis of the capital femoral epiphysis | 3 | TREX1 CL E G H | 11277 | 12269 | ORPHA:247691 | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | HP:0040284 - Very rare | | | 56 | | |
HP:0006500 | HP:0005743 | Avascular necrosis of the capital femoral epiphysis | 3 | TRPS1 CL E G H | 7227 | 12340 | ORPHA:77258 | Trichorhinophalangeal syndrome type 1 and 3 | HP:0040282 - Frequent | | | 171 | | |
HP:0006500 | HP:0005743 | Avascular necrosis of the capital femoral epiphysis | 3 | TRPS1 CL E G H | 7227 | 12340 | ORPHA:502 | Trichorhinophalangeal syndrome type 2 | HP:0040283 - Occasional | | | 171 | | |
HP:0006500 | HP:0005743 | Avascular necrosis of the capital femoral epiphysis | 3 | TRPS1 CL E G H | 7227 | 12340 | OMIM:190350 | Trichorhinophalangeal syndrome, type I | . | | | 171 | | |
HP:0006500 | HP:0003370 | Flat capital femoral epiphysis | 3 | TRPS1 CL E G H | 7227 | 12340 | OMIM:190350 | Trichorhinophalangeal syndrome, type I | . | | | 171 | | |
HP:0006500 | HP:0005743 | Avascular necrosis of the capital femoral epiphysis | 3 | TRPS1 CL E G H | 7227 | 12340 | OMIM:190351 | Trichorhinophalangeal syndrome, type III | . | | | 171 | | |
HP:0006500 | HP:0005743 | Avascular necrosis of the capital femoral epiphysis | 3 | TRPV4 CL E G H | 59341 | 18083 | OMIM:617383 | AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2; ANFH2 | | | | 214 | | |
HP:0006500 | HP:0005041 | Irregular capital femoral epiphysis | 3 | TRPV4 CL E G H | 59341 | 18083 | OMIM:184252 | Spondylometaphyseal dysplasia, Kozlowski type | | | | 214 | | |
HP:0006500 | HP:0008828 | Delayed proximal femoral epiphyseal ossification | 3 | TSHB CL E G H | 7252 | 12372 | ORPHA:90674 | Isolated thyroid-stimulating hormone deficiency | HP:0040282 - Frequent | | | 9 | | |
HP:0006500 | HP:0008828 | Delayed proximal femoral epiphyseal ossification | 3 | TSHR CL E G H | 7253 | 12373 | ORPHA:90673 | Hypothyroidism due to TSH receptor mutations | HP:0040283 - Occasional | | | 97 | | |
HP:0006500 | HP:0003370 | Flat capital femoral epiphysis | 3 | UFSP2 CL E G H | 55325 | 25640 | OMIM:142669 | Hip dysplasia, Beukes type | . | | | 2 | | |
HP:0006500 | HP:0005743 | Avascular necrosis of the capital femoral epiphysis | 3 | UFSP2 CL E G H | 55325 | 25640 | OMIM:142669 | Hip dysplasia, Beukes type | . | | | 2 | | |
HP:0006500 | HP:0005041 | Irregular capital femoral epiphysis | 3 | UFSP2 CL E G H | 55325 | 25640 | OMIM:142669 | Hip dysplasia, Beukes type | . | | | 2 | | |
HP:0006500 | HP:0005743 | Avascular necrosis of the capital femoral epiphysis | 3 | UNC45A CL E G H | 55898 | 30594 | OMIM:619377 | OSTEOOTOHEPATOENTERIC SYNDROME; OOHE | | | | | | |
HP:0006500 | HP:0005743 | Avascular necrosis of the capital femoral epiphysis | 3 | WNT5A CL E G H | 7474 | 12784 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | 98 | | |
HP:0006500 | HP:0100050 | Ivory epiphyses of the 2nd toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010122 | Stippling of the epiphyses of the hallux | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100084 | Pseudoepiphyses of the 5th toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100071 | Irregular epiphyses of the 4th toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100090 | Abnormality of the epiphysis of the proximal phalanx of the 2nd toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100056 | Bracket epiphyses of the 3rd toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100077 | Absent epiphyses of the 5th toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010115 | Cone-shaped epiphyses of the hallux | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100096 | Abnormality of the epiphysis of the proximal phalanx of the 4th toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100063 | Small epiphyses of the 3rd toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100049 | Irregular epiphyses of the 2nd toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010121 | Small epiphyses of the hallux | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100083 | Ivory epiphyses of the 5th toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100070 | Fragmentation of the epiphyses of the 4th toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100089 | Abnormality of the epiphysis of the middle phalanx of the 2nd toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100055 | Absent epiphyses of the 3rd toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100076 | Triangular epiphyses of the 4th toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010114 | Bracket epiphyses of the hallux | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100095 | Abnormality of the epiphysis of the middle phalanx of the 4th toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100062 | Pseudoepiphyses of the 3rd toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010120 | Pseudoepiphyses of the hallux | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100082 | Irregular epiphyses of the 5th toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100048 | Fragmentation of the epiphyses of the 2nd toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100069 | Enlarged epiphyses of the 4th toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100088 | Abnormality of the epiphysis of the distal phalanx of the 2nd toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100054 | Triangular epiphyses of the 2nd toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010126 | Abnormality of the epiphysis of the proximal phalanx of the hallux | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100075 | Stippling of the epiphyses of the 4th toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010113 | Absent hallux epiphysis | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100094 | Abnormality of the epiphysis of the distal phalanx of the 4th toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100061 | Ivory epiphyses of the 3rd toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010119 | Ivory epiphyses of the hallux | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100081 | Fragmentation of the epiphyses of the 5th toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100047 | Enlarged epiphyses of the 2nd toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100067 | Bracket epiphyses of the 4th toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100087 | Triangular epiphyses of the 5th toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100053 | Stippling of the epiphyses of the 2nd toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010125 | Abnormality of the epiphysis of the 1st metatarsal | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100074 | Small epiphyses of the 4th toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100093 | Abnormality of the epiphysis of the proximal phalanx of the 3rd toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100060 | Irregular epiphyses of the 3rd toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010118 | Irregular epiphyses of the hallux | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100080 | Enlarged epiphyses of the 5th toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100045 | Bracket epiphyses of the 2nd toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100099 | Abnormality of the epiphysis of the proximal phalanx of the 5th toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100066 | Absent epiphyses of the 4th toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100086 | Stippling of the epiphyses of the 5th toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100052 | Small epiphyses of the 2nd toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010124 | Abnormality of the epiphysis of the distal phalanx of the hallux | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100073 | Pseudoepiphyses of the 4th toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0008820 | Absent ossification of capital femoral epiphysis | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100092 | Abnormality of the epiphysis of the middle phalanx of the 3rd toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100059 | Fragmentation of the epiphyses of the 3rd toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010117 | Fragmentation of the epiphyses of the hallux | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100079 | Cone-shaped epiphyses of the 5th toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100044 | Absent epiphyses of the 2nd toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100098 | Abnormality of the epiphysis of the middle phalanx of the 5th toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100065 | Triangular epiphyses of the 3rd toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100085 | Small epiphyses of the 5th toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100051 | Pseudoepiphyses of the 2nd toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010123 | Triangular epiphyses of the hallux | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100072 | Ivory epiphyses of the 4th toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100091 | Abnormality of the epiphysis of the distal phalanx of the 3rd toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100058 | Enlarged epiphyses of the 3rd toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010116 | Enlarged epiphyses of the hallux | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100078 | Bracket epiphyses of the 5th toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100097 | Abnormality of the epiphysis of the distal phalanx of the 5th toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100064 | Stippling of the epiphyses of the 3rd toe | 4 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0003090 | Hypoplasia of the capital femoral epiphysis | 4 | ADAMTSL2 CL E G H | 9719 | 14631 | OMIM:231050 | Geleophysic dysplasia 1 | . | | | 72 | | |
HP:0006500 | HP:0003090 | Hypoplasia of the capital femoral epiphysis | 4 | CANT1 CL E G H | 124583 | 19721 | OMIM:617719 | EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7 | | | | 85 | | |
HP:0006500 | HP:0003090 | Hypoplasia of the capital femoral epiphysis | 4 | CDC6 CL E G H | 990 | 1744 | OMIM:613805 | Meier-Gorlin syndrome 5 | . | | | 31 | | |
HP:0006500 | HP:0003090 | Hypoplasia of the capital femoral epiphysis | 4 | CHST3 CL E G H | 9469 | 1971 | OMIM:143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | . | | | 165 | | |
HP:0006500 | HP:0003090 | Hypoplasia of the capital femoral epiphysis | 4 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:85166 | Platyspondylic dysplasia, Torrance type | HP:0040281 - Very frequent | | | 284 | | |
HP:0006500 | HP:0003090 | Hypoplasia of the capital femoral epiphysis | 4 | COMP CL E G H | 1311 | 2227 | ORPHA:750 | Pseudoachondroplasia | HP:0040283 - Occasional | | | 89 | | |
HP:0006500 | HP:0003090 | Hypoplasia of the capital femoral epiphysis | 4 | DYM CL E G H | 54808 | 21317 | ORPHA:239 | Dyggve-Melchior-Clausen disease | HP:0040282 - Frequent | | | 65 | | |
HP:0006500 | HP:0003090 | Hypoplasia of the capital femoral epiphysis | 4 | EXTL3 CL E G H | 2137 | 3518 | OMIM:617425 | Immunoskeletal dysplasia with neurodevelopmental abnormalities | . | | | 3 | | |
HP:0006500 | HP:0003090 | Hypoplasia of the capital femoral epiphysis | 4 | HS2ST1 CL E G H | 9653 | 5193 | OMIM:619194 | NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA | | | | | | |
HP:0006500 | HP:0003090 | Hypoplasia of the capital femoral epiphysis | 4 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | . | | | 148 | | |
HP:0006500 | HP:0003090 | Hypoplasia of the capital femoral epiphysis | 4 | KIF22 CL E G H | 3835 | 6391 | OMIM:603546 | Spondyloepimetaphyseal dysplasia with joint laxity, type 2 | . | | | 14 | | |
HP:0006500 | HP:0003090 | Hypoplasia of the capital femoral epiphysis | 4 | MATN3 CL E G H | 4148 | 6909 | OMIM:607078 | Epiphyseal dysplasia, multiple, 5 | . | | | 32 | | |
HP:0006500 | HP:0003090 | Hypoplasia of the capital femoral epiphysis | 4 | PIK3C2A CL E G H | 5286 | 8971 | ORPHA:557003 | Oculocerebrodental syndrome | HP:0040283 - Occasional | | | | | |
HP:0006500 | HP:0003090 | Hypoplasia of the capital femoral epiphysis | 4 | PLOD3 CL E G H | 8985 | 9083 | OMIM:612394 | Bone fragility with contractures, arterial rupture, and deafness | . | | | 5 | | |
HP:0006500 | HP:0003090 | Hypoplasia of the capital femoral epiphysis | 4 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | . | | | 74 | | |
HP:0006500 | HP:0100046 | Cone-shaped epiphyses of the 2nd toe | 4 | TBC1D2B CL E G H | 23102 | 29183 | ORPHA:397973 | Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome | HP:0040283 - Occasional | | | | | |
HP:0006500 | HP:0100068 | Cone-shaped epiphyses of the 4th toe | 4 | TBC1D2B CL E G H | 23102 | 29183 | ORPHA:397973 | Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome | HP:0040283 - Occasional | | | | | |
HP:0006500 | HP:0100057 | Cone-shaped epiphyses of the 3rd toe | 4 | TBC1D2B CL E G H | 23102 | 29183 | ORPHA:397973 | Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome | HP:0040283 - Occasional | | | | | |
HP:0006500 | HP:0003090 | Hypoplasia of the capital femoral epiphysis | 4 | TRAPPC2 CL E G H | 6399 | 23068 | OMIM:313400 | Spondyloepiphyseal dysplasia tarda, X-linked | . | | | 46 | | |
HP:0006500 | HP:0010153 | Fragmentation of the epiphysis of the 1st metatarsal | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100215 | Cone-shaped epiphysis of the middle phalanx of the 5th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100183 | Enlarged epiphysis of the middle phalanx of the 4th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100150 | Fragmentation of the epiphysis of the middle phalanx of the 3rd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100116 | Irregular epiphysis of the middle phalanx of the 2nd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100103 | Enlarged epiphysis of the distal phalanx of the 2nd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100234 | Triangular epiphysis of the proximal phalanx of the 5th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010141 | Enlarged epiphysis of the distal phalanx of the hallux | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100202 | Absent epiphysis of the distal phalanx of the 5th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100170 | Bracket epiphysis of the distal phalanx of the 4th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100137 | Cone-shaped epiphysis of the distal phalanx of the 3rd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100156 | Triangular epiphysis of the middle phalanx of the 3rd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100122 | Absent epiphysis of the proximal phalanx of the 2nd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010159 | Triangular epiphysis of the 1st metatarsal | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100221 | Small epiphysis of the middle phalanx of the 5th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010128 | Bracket epiphysis of the proximal phalanx of the hallux | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100189 | Stippling of the epiphysis of the middle phalanx of the 4th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100176 | Pseudoepiphysis of the distal phalanx of the 4th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100143 | Small epiphysis of the distal phalanx of the 3rd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100109 | Stippling of the epiphysis of the distal phalanx of the 2nd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010147 | Stippling of the epiphysis of the distal phalanx of the hallux | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100208 | Ivory epiphysis of the distal phalanx of the 5th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100227 | Enlarged epiphysis of the proximal phalanx of the 5th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010134 | Pseudoepiphysis of the proximal phalanx of the hallux | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100195 | Fragmentation of the epiphysis of the proximal phalanx of the 4th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100162 | Irregular epiphysis of the proximal phalanx of the 3rd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100128 | Ivory epiphysis of the proximal phalanx of the 2nd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010152 | Enlarged epiphysis of the 1st metatarsal | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100214 | Bracket epiphysis of the middle phalanx of the 5th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100182 | Cone-shaped epiphysis of the middle phalanx of the 4th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100149 | Enlarged epiphysis of the middle phalanx of the 3rd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100115 | Fragmentation of the epiphysis of the middle phalanx of the 2nd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100233 | Stippling of the epiphysis of the proximal phalanx of the 5th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010140 | Cone-shaped epiphysis of the distal phalanx of the hallux | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100201 | Triangular epiphysis of the proximal phalanx of the 4th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100169 | Absent epiphysis of the distal phalanx of the 4th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100136 | Bracket epiphysis of the distal phalanx of the 3rd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100102 | Cone-shaped epiphysis of the distal phalanx of the 2nd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100121 | Triangular epiphysis of the middle phalanx of the 2nd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010158 | Stippling of the epiphysis of the 1st metatarsal | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100220 | Pseudoepiphysis of the middle phalanx of the 5th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010127 | Absent epiphysis of the proximal phalanx of the hallux | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100188 | Small epiphysis of the middle phalanx of the 4th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100155 | Stippling of the epiphysis of the middle phalanx of the 3rd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100175 | Ivory epiphysis of the distal phalanx of the 4th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100142 | Pseudoepiphysis of the distal phalanx of the 3rd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100108 | Small epiphysis of the distal phalanx of the 2nd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010146 | Small epiphysis of the distal phalanx of the hallux | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100207 | Irregular epiphysis of the distal phalanx of the 5th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100226 | Cone-shaped epiphysis of the proximal phalanx of the 5th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010133 | Ivory epiphysis of the proximal phalanx of the hallux | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100194 | Enlarged epiphysis of the proximal phalanx of the 4th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100161 | Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100127 | Irregular epiphysis of the proximal phalanx of the 2nd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010151 | Cone-shaped epiphysis of the 1st metatarsal | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100213 | Absent epiphysis of the middle phalanx of the 5th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100181 | Bracket epiphysis of the middle phalanx of the 4th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100148 | Cone-shaped epiphysis of the middle phalanx of the 3rd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100114 | Enlarged epiphysis of the middle phalanx of the 2nd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100232 | Small epiphysis of the proximal phalanx of the 5th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010139 | Bracket epiphysis of the distal phalanx of the hallux | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100200 | Stippling of the epiphysis of the proximal phalanx of the 4th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100167 | Triangular epiphysis of the proximal phalanx of the 3rd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100135 | Absent epiphysis of the distal phalanx of the 3rd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100101 | Bracket epiphysis of the distal phalanx of the 2nd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100120 | Stippling of the epiphysis of the middle phalanx of the 2nd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010157 | Small epiphysis of the 1st metatarsal | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100219 | Ivory epiphysis of the middle phalanx of the 5th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100187 | Pseudoepiphysis of the middle phalanx of the 4th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100154 | Small epiphysis of the middle phalanx of the 3rd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100141 | Ivory epiphysis of the distal phalanx of the 3rd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100107 | Pseudoepiphysis of the distal phalanx of the 2nd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010145 | Pseudoepiphysis of the distal phalanx of the hallux | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100206 | Fragmentation of the epiphysis of the distal phalanx of the 5th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100174 | Irregular epiphysis of the distal phalanx of the 4th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100193 | Cone-shaped epiphysis of the proximal phalanx of the 4th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100160 | Enlarged epiphysis of the proximal phalanx of the 3rd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100126 | Fragmentation of the epiphysis of the proximal phalanx of the 2nd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100225 | Bracket epiphysis of the proximal phalanx of the 5th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010132 | Irregular epiphysis of the proximal phalanx of the hallux | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100212 | Triangular epiphysis of the distal phalanx of the 5th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100180 | Absent epiphysis of the middle phalanx of the 4th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100147 | Bracket epiphysis of the middle phalanx of the 3rd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100113 | Cone-shaped epiphysis of the middle phalanx of the 2nd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100231 | Pseudoepiphysis of the proximal phalanx of the 5th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010138 | Absent epiphysis of the distal phalanx of the hallux | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100199 | Small epiphysis of the proximal phalanx of the 4th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100166 | Stippling of the epiphysis of the proximal phalanx of the 3rd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100132 | Triangular epiphysis of the proximal phalanx of the 2nd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100100 | Absent epiphysis of the distal phalanx of the 2nd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010156 | Pseudoepiphysis of the 1st metatarsal | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100218 | Irregular epiphysis of the middle phalanx of the 5th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100186 | Ivory epiphysis of the middle phalanx of the 4th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100153 | Pseudoepiphysis of the middle phalanx of the 3rd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100119 | Small epiphysis of the middle phalanx of the 2nd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100140 | Irregular epiphysis of the distal phalanx of the 3rd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100106 | Ivory epiphysis of the distal phalanx of the 2nd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010144 | Ivory epiphysis of the distal phalanx of the hallux | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100205 | Enlarged epiphysis of the distal phalanx of the 5th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100173 | Fragmentation of the epiphysis of the distal phalanx of the 4th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100192 | Bracket epiphysis of the proximal phalanx of the 4th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100159 | Cone-shaped epiphysis of the proximal phalanx of the 3rd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100125 | Enlarged epiphysis of the proximal phalanx of the 2nd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100224 | Absent epiphysis of the proximal phalanx of the 5th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010131 | Fragmentation of the epiphysis of the proximal phalanx of the hallux | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010150 | Bracket epiphysis of the 1st metatarsal | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100211 | Stippling of the epiphysis of the distal phalanx of the 5th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100179 | Triangular epiphysis of the distal phalanx of the 4th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100146 | Absent epiphysis of the middle phalanx of the 3rd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100112 | Bracket epiphysis of the middle phalanx of the 2nd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100230 | Ivory epiphysis of the proximal phalanx of the 5th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010137 | Triangular epiphysis of the proximal phalanx of the hallux | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100198 | Pseudoepiphysis of the proximal phalanx of the 4th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100165 | Small epiphysis of the proximal phalanx of the 3rd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100131 | Stippling of the epiphysis of the proximal phalanx of the 2nd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010155 | Ivory epiphysis of the 1st metatarsal | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100217 | Fragmentation of the epiphysis of the middle phalanx of the 5th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100185 | Irregular epiphysis of the middle phalanx of the 4th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100152 | Ivory epiphysis of the middle phalanx of the 3rd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100118 | Pseudoepiphysis of the middle phalanx of the 2nd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100139 | Fragmentation of the epiphysis of the distal phalanx of the 3rd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100105 | Irregular epiphysis of the distal phalanx of the 2nd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010143 | Irregular epiphysis of the distal phalanx of the hallux | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100204 | Cone-shaped epiphysis of the distal phalanx of the 5th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100172 | Enlarged epiphysis of the distal phalanx of the 4th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100158 | Bracket epiphysis of the proximal phalanx of the 3rd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100124 | Cone-shaped epiphysis of the proximal phalanx of the 2nd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100223 | Triangular epiphysis of the middle phalanx of the 5th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010130 | Enlarged epiphysis of the proximal phalanx of the hallux | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100191 | Absent epiphysis of the proximal phalanx of the 4th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100210 | Small epiphysis of the distal phalanx of the 5th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100178 | Stippling of the epiphysis of the distal phalanx of the 4th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100145 | Triangular epiphysis of the distal phalanx of the 3rd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100111 | Absent epiphysis of the middle phalanx of the 2nd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010149 | Absent epiphysis of the 1st metatarsal | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100229 | Irregular epiphysis of the proximal phalanx of the 5th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010136 | Stippling of the epiphysis of the proximal phalanx of the hallux | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100197 | Ivory epiphysis of the proximal phalanx of the 4th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100164 | Pseudoepiphysis of the proximal phalanx of the 3rd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100130 | Small epiphysis of the proximal phalanx of the 2nd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010154 | Irregular epiphysis of the 1st metatarsal | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100216 | Enlarged epiphysis of the middle phalanx of the 5th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100184 | Fragmentation of the epiphysis of the middle phalanx of the 4th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100151 | Irregular epiphysis of the middle phalanx of the 3rd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100117 | Ivory epiphysis of the middle phalanx of the 2nd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100104 | Fragmentation of the epiphysis of the distal phalanx of the 2nd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010142 | Fragmentation of the epiphysis of the distal phalanx of the hallux | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100203 | Bracket epiphysis of the distal phalanx of the 5th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100171 | Cone-shaped epiphysis of the distal phalanx of the 4th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100138 | Enlarged epiphysis of the distal phalanx of the 3rd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100157 | Absent epiphysis of the proximal phalanx of the 3rd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100123 | Bracket epiphysis of the proximal phalanx of the 2nd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100222 | Stippling of the epiphysis of the middle phalanx of the 5th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010129 | Cone-shaped epiphysis of the proximal phalanx of the hallux | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100190 | Triangular epiphysis of the middle phalanx of the 4th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100209 | Pseudoepiphysis of the distal phalanx of the 5th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100177 | Small epiphysis of the distal phalanx of the 4th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100144 | Stippling of the epiphysis of the distal phalanx of the 3rd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100110 | Triangular epiphysis of the distal phalanx of the 2nd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010148 | Triangular epiphysis of the distal phalanx of the hallux | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100228 | Fragmentation of the epiphysis of the proximal phalanx of the 5th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0010135 | Small epiphysis of the proximal phalanx of the hallux | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100196 | Irregular epiphysis of the proximal phalanx of the 4th toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100163 | Ivory epiphysis of the proximal phalanx of the 3rd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0100129 | Pseudoepiphysis of the proximal phalanx of the 2nd toe | 5 | CL E G H | | | | | | | | | | |
HP:0006500 | HP:0041193 | Fractured epiphysis of first metatarsal bone | 6 | CL E G H | | | | | | | | | | |