Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | ABCC9 CL E G H | 10060 | 60 | ORPHA:1517 | Hypertrichotic osteochondrodysplasia, Cantu type | HP:0040282 - Frequent | | | 254 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | ACAN CL E G H | 176 | 319 | OMIM:612813 | Spondyloepimetaphyseal dysplasia, Aggrecan type | | | | 34 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | ACAN CL E G H | 176 | 319 | OMIM:608361 | Spondyloepiphyseal dysplasia, Kimberley type | | | | 34 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | ACAN CL E G H | 176 | 319 | ORPHA:93283 | Spondyloepiphyseal dysplasia, Kimberley type | | | | 34 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | ACP5 CL E G H | 54 | 124 | ORPHA:1855 | Spondyloenchondrodysplasia | | | | 16 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | ACP5 CL E G H | 54 | 124 | OMIM:607944 | Spondyloenchondrodysplasia with immune dysregulation | | | | 16 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | ACTB CL E G H | 60 | 132 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | HP:0040281 - Very frequent | | | 72 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | ACTG1 CL E G H | 71 | 144 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | HP:0040281 - Very frequent | | | 123 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | AIFM1 CL E G H | 9131 | 8768 | ORPHA:83629 | Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome | | | | 60 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300232 | Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration | | | | 60 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | HP:0040281 - Very frequent | | | 54 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | ALDH3A2 CL E G H | 224 | 403 | ORPHA:816 | Sjögren-Larsson syndrome | HP:0040281 - Very frequent | | | 87 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | ALG3 CL E G H | 10195 | 23056 | ORPHA:79321 | ALG3-CDG | | | | 37 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | ALG6 CL E G H | 29929 | 23157 | ORPHA:79320 | ALG6-CDG | HP:0040283 - Occasional | | | 66 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | ALG9 CL E G H | 79796 | 15672 | ORPHA:79328 | ALG9-CDG | HP:0040282 - Frequent | | | 93 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | ALG9 CL E G H | 79796 | 15672 | OMIM:608776 | Congenital disorder of glycosylation, type Il | . | | | 93 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | ALG9 CL E G H | 79796 | 15672 | OMIM:263210 | Gillessen-Kaesbach-Nishimura syndrome | . | | | 93 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | ANAPC1 CL E G H | 64682 | 19988 | ORPHA:221008 | Rothmund-Thomson syndrome type 1 | | | | 2 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | ANKH CL E G H | 56172 | 15492 | ORPHA:1522 | Craniometaphyseal dysplasia | HP:0040282 - Frequent | | | 164 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | ANOS1 CL E G H | 3730 | 6211 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | ARSB CL E G H | 411 | 714 | OMIM:253200 | Mucopolysaccharidosis, type VI | | | | 120 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:536467 | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | | | | 38 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:615349 | Ehlers-Danlos syndrome, spondylodysplastic type, 2 | | | | 38 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:271640 | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | | | | 38 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | B4GALT7 CL E G H | 11285 | 930 | ORPHA:75496 | B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 29 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | BGN CL E G H | 633 | 1044 | OMIM:300106 | Spondyloepimetaphyseal dysplasia, X-linked | | | | 7 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | BMPR1B CL E G H | 658 | 1077 | ORPHA:2098 | Acromesomelic dysplasia, Grebe type | HP:0040281 - Very frequent | | | 90 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | CANT1 CL E G H | 124583 | 19721 | OMIM:617719 | EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7 | | | | 85 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | CCDC141 CL E G H | 285025 | 26821 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | CCN6 CL E G H | 8838 | 12771 | ORPHA:1159 | Progressive pseudorheumatoid arthropathy of childhood | | | | | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | CDH3 CL E G H | 1001 | 1762 | ORPHA:1573 | Hypotrichosis with juvenile macular degeneration | HP:0040283 - Occasional | | | 87 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | CDKN1C CL E G H | 1028 | 1786 | ORPHA:85173 | IMAGe syndrome | | | | 114 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | CDKN1C CL E G H | 1028 | 1786 | OMIM:614732 | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies | | | | 114 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | CEP120 CL E G H | 153241 | 26690 | ORPHA:474 | Jeune syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | CFAP410 CL E G H | 755 | 1260 | OMIM:602271 | Spondylometaphyseal dysplasia, axial | | | | | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 515 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | | | | 165 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | COL10A1 CL E G H | 1300 | 2185 | OMIM:156500 | Metaphyseal chondrodysplasia, Schmid type | | | | 79 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:250984 | Autosomal recessive Stickler syndrome | | | | 215 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | COL11A1 CL E G H | 1301 | 2186 | OMIM:604841 | Stickler syndrome, type II | | | | 215 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | COL11A2 CL E G H | 1302 | 2187 | OMIM:215150 | Otospondylomegaepiphyseal dysplasia | | | | 222 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | COL11A2 CL E G H | 1302 | 2187 | ORPHA:1427 | Otospondylomegaepiphyseal dysplasia | | | | 222 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | COL11A2 CL E G H | 1302 | 2187 | OMIM:184840 | Stickler syndrome, type III | | | | 222 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93296 | Achondrogenesis type 2 | HP:0040282 - Frequent | | | 284 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:85198 | Dysspondyloenchondromatosis | | | | 284 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:132450 | Epiphyseal dysplasia, multiple, with myopia and conductive deafness | | | | 284 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:166011 | Multiple epiphyseal dysplasia, Beighton type | | | | 284 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:85166 | Platyspondylic dysplasia, Torrance type | HP:0040281 - Very frequent | | | 284 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:151210 | Platyspondylic lethal skeletal dysplasia, Torrance type | | | | 284 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:184250 | Spondyloepimetaphyseal dysplasia, Strudwick type | | | | 284 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:183900 | Spondyloepiphyseal dysplasia congenita | | | | 284 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:616583 | Spondyloepiphyseal dysplasia, Stanescu type | | | | 284 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:184255 | Spondylometaphyseal dysplasia, corner Fracture type | | | | 284 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93316 | Spondylometaphyseal dysplasia, Schmidt type | | | | 284 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:271700 | Spondyloperipheral dysplasia | | | | 284 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:90653 | Stickler syndrome type 1 | HP:0040281 - Very frequent | | | 284 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:108300 | Stickler syndrome, type I | | | | 284 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:2500 | Acrogeria | HP:0040283 - Occasional | | | 749 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | COL9A1 CL E G H | 1297 | 2217 | ORPHA:250984 | Autosomal recessive Stickler syndrome | | | | 110 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | COL9A1 CL E G H | 1297 | 2217 | OMIM:614135 | Epiphyseal dysplasia, multiple, 6 | | | | 110 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | COL9A1 CL E G H | 1297 | 2217 | OMIM:614134 | STICKLER SYNDROME, TYPE IV; STL4 | | | | 110 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | COL9A2 CL E G H | 1298 | 2218 | ORPHA:250984 | Autosomal recessive Stickler syndrome | | | | 110 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | COL9A2 CL E G H | 1298 | 2218 | OMIM:600204 | Epiphyseal dysplasia, multiple, 2 | | | | 110 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | COL9A3 CL E G H | 1299 | 2219 | ORPHA:250984 | Autosomal recessive Stickler syndrome | | | | 137 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | COL9A3 CL E G H | 1299 | 2219 | OMIM:600969 | Epiphyseal dysplasia, multiple, 3, with or without myopathy | | | | 137 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | COMP CL E G H | 1311 | 2227 | OMIM:132400 | Epiphyseal dysplasia, multiple, 1 | | | | 89 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | CTSA CL E G H | 5476 | 9251 | ORPHA:351 | Galactosialidosis | HP:0040281 - Very frequent | | | 51 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | CWC27 CL E G H | 10283 | 10664 | ORPHA:166035 | Brachydactyly-short stature-retinitis pigmentosa syndrome | | | | 4 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | CWC27 CL E G H | 10283 | 10664 | OMIM:250410 | Retinitis pigmentosa with or without skeletal anomalies | | | | 4 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | DCC CL E G H | 1630 | 2701 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | DCHS1 CL E G H | 8642 | 13681 | OMIM:601390 | Van maldergem syndrome 1 | . | | | 27 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | DDR2 CL E G H | 4921 | 2731 | OMIM:271665 | Spondylometaepiphyseal dysplasia, short Limb-Hand type | | | | 45 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | DDRGK1 CL E G H | 65992 | 16110 | OMIM:602557 | Spondyloepimetaphyseal dysplasia, Shohat type | | | | | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | DMP1 CL E G H | 1758 | 2932 | ORPHA:289176 | Autosomal recessive hypophosphatemic rickets | HP:0040281 - Very frequent | | | 48 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:617052 | Bone marrow failure syndrome 3 | | | | 5 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | DNAJC21 CL E G H | 134218 | 27030 | ORPHA:811 | Shwachman-Diamond syndrome | | | | 5 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:260400 | Shwachman-Diamond syndrome 1 | | | | 5 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | DPYD CL E G H | 1806 | 3012 | ORPHA:1675 | Dihydropyrimidine dehydrogenase deficiency | | | | 144 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | DYM CL E G H | 54808 | 21317 | ORPHA:239 | Dyggve-Melchior-Clausen disease | HP:0040282 - Frequent | | | 65 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:474 | Jeune syndrome | HP:0040281 - Very frequent | | | 304 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | 304 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:474 | Jeune syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:474 | Jeune syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | DYNC2LI1 CL E G H | 51626 | 24595 | ORPHA:474 | Jeune syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | EFL1 CL E G H | 79631 | 25789 | ORPHA:811 | Shwachman-Diamond syndrome | | | | 1 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | EIF2AK3 CL E G H | 9451 | 3255 | OMIM:226980 | Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus | | | | 65 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:289176 | Autosomal recessive hypophosphatemic rickets | HP:0040281 - Very frequent | | | 151 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | EPCAM CL E G H | 4072 | 11529 | ORPHA:92050 | Congenital tufting enteropathy | HP:0040284 - Very rare | | | 170 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | EXOC6B CL E G H | 23233 | 17085 | OMIM:618395 | Spondyloepimetaphyseal dysplasia with joint laxity, type 3 | | | | 3 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | EXTL3 CL E G H | 2137 | 3518 | OMIM:617425 | Immunoskeletal dysplasia with neurodevelopmental abnormalities | | | | 3 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | FAT4 CL E G H | 79633 | 23109 | OMIM:615546 | Van maldergem syndrome 2 | . | | | 114 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | FEZF1 CL E G H | 389549 | 22788 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | FGF17 CL E G H | 8822 | 3673 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 17 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | HP:0040283 - Occasional | | | 172 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 172 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:429 | Hypochondroplasia | HP:0040281 - Very frequent | | | 145 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:85165 | Severe achondroplasia-developmental delay-acanthosis nigricans syndrome | | | | 145 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:1860 | Thanatophoric dysplasia type 1 | HP:0040281 - Very frequent | | | 145 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:93274 | Thanatophoric dysplasia type 2 | HP:0040281 - Very frequent | | | 145 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:1826 | Frontometaphyseal dysplasia | HP:0040281 - Very frequent | | | 493 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:90650 | Otopalatodigital syndrome type 1 | HP:0040281 - Very frequent | | | 493 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:90652 | Otopalatodigital syndrome type 2 | HP:0040281 - Very frequent | | | 493 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:272460 | Spondylocarpotarsal synostosis syndrome | | | | 233 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | FLRT3 CL E G H | 23767 | 3762 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | FN1 CL E G H | 2335 | 3778 | OMIM:184255 | Spondylometaphyseal dysplasia, corner Fracture type | | | | 9 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | GDF5 CL E G H | 8200 | 4220 | ORPHA:2098 | Acromesomelic dysplasia, Grebe type | HP:0040281 - Very frequent | | | 52 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | GEMIN4 CL E G H | 50628 | 15717 | OMIM:617913 | Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities | | | | 1 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:1522 | Craniometaphyseal dysplasia | HP:0040282 - Frequent | | | 68 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:218400 | Craniometaphyseal dysplasia, autosomal recessive | | | | 68 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | GLB1 CL E G H | 2720 | 4298 | ORPHA:79255 | GM1 gangliosidosis type 1 | HP:0040282 - Frequent | | | 120 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040282 - Frequent | | | 270 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:57782 | Mazabraud syndrome | HP:0040283 - Occasional | | | 101 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | | | | 69 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | GPX4 CL E G H | 2879 | 4556 | ORPHA:93317 | Spondylometaphyseal dysplasia, Sedaghatian type | | | | 3 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | GPX4 CL E G H | 2879 | 4556 | OMIM:250220 | Spondylometaphyseal dysplasia, Sedaghatian type | | | | 3 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | HDAC6 CL E G H | 10013 | 14064 | ORPHA:163966 | X-linked dominant chondrodysplasia, Chassaing-Lacombe type | | | | 2 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 21 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | HSPA9 CL E G H | 3313 | 5244 | OMIM:616854 | Even-Plus syndrome | | | | 6 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | HP:0040281 - Very frequent | | | 345 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | IARS2 CL E G H | 55699 | 29685 | ORPHA:436174 | Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome | HP:0040281 - Very frequent | | | 25 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | IARS2 CL E G H | 55699 | 29685 | OMIM:616007 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | | | | 25 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | IDH1 CL E G H | 3417 | 5382 | ORPHA:99646 | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | | | | 15 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | IDUA CL E G H | 3425 | 5391 | ORPHA:93473 | Hurler syndrome | HP:0040281 - Very frequent | | | 115 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | IDUA CL E G H | 3425 | 5391 | ORPHA:93476 | Hurler-Scheie syndrome | HP:0040281 - Very frequent | | | 115 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | IFT140 CL E G H | 9742 | 29077 | ORPHA:474 | Jeune syndrome | HP:0040281 - Very frequent | | | 148 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | IFT172 CL E G H | 26160 | 30391 | ORPHA:474 | Jeune syndrome | HP:0040281 - Very frequent | | | 48 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | IFT80 CL E G H | 57560 | 29262 | ORPHA:474 | Jeune syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | IFT80 CL E G H | 57560 | 29262 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | 65 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | IHH CL E G H | 3549 | 5956 | ORPHA:63446 | Acrocapitofemoral dysplasia | HP:0040281 - Very frequent | | | 44 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | IL17RD CL E G H | 54756 | 17616 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | HP:0040283 - Occasional | | | 283 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | HP:0040283 - Occasional | | | 283 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | KCNJ8 CL E G H | 3764 | 6269 | ORPHA:1517 | Hypertrichotic osteochondrodysplasia, Cantu type | HP:0040282 - Frequent | | | 23 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | KIF22 CL E G H | 3835 | 6391 | OMIM:603546 | Spondyloepimetaphyseal dysplasia with joint laxity, type 2 | | | | 14 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | KIF22 CL E G H | 3835 | 6391 | ORPHA:93360 | Spondyloepimetaphyseal dysplasia with multiple dislocations | HP:0040281 - Very frequent | | | 14 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:607131 | Al-Gazali-Bakalinova syndrome | | | | 167 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | KIF7 CL E G H | 374654 | 30497 | ORPHA:166024 | Multiple epiphyseal dysplasia, Al-Gazali type | | | | 167 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | HP:0040283 - Occasional | | | 196 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | LBR CL E G H | 3930 | 6518 | OMIM:618019 | PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK | | | | 70 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | LEMD3 CL E G H | 23592 | 28887 | ORPHA:1306 | Buschke-Ollendorff syndrome | HP:0040281 - Very frequent | | | 68 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | LIFR CL E G H | 3977 | 6597 | ORPHA:3206 | Stüve-Wiedemann syndrome | HP:0040281 - Very frequent | | | 144 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | LONP1 CL E G H | 9361 | 9479 | OMIM:600373 | CODAS syndrome | | | | 8 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | LOXL3 CL E G H | 84695 | 13869 | ORPHA:250984 | Autosomal recessive Stickler syndrome | | | | 4 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | LRRK1 CL E G H | 79705 | 18608 | OMIM:615198 | Osteosclerotic metaphyseal dysplasia | | | | 1 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | LTBP3 CL E G H | 4054 | 6716 | OMIM:617809 | Geleophysic dysplasia 3 | | | | 12 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | MAP3K7 CL E G H | 6885 | 6859 | ORPHA:1826 | Frontometaphyseal dysplasia | HP:0040281 - Very frequent | | | 11 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | MATN3 CL E G H | 4148 | 6909 | OMIM:607078 | Epiphyseal dysplasia, multiple, 5 | | | | 32 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | MATN3 CL E G H | 4148 | 6909 | OMIM:608728 | Spondyloepimetaphyseal dysplasia, matrilin-3 related | | | | 32 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | MBTPS1 CL E G H | 8720 | 15456 | OMIM:618392 | Spondyloepiphyseal dysplasia, Kondo-Fu type | | | | | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | MMP13 CL E G H | 4322 | 7159 | OMIM:250400 | Metaphyseal chondrodysplasia, Spahr type | | | | 52 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | MMP13 CL E G H | 4322 | 7159 | ORPHA:2501 | Metaphyseal chondrodysplasia, Spahr type | | | | 52 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | MMP13 CL E G H | 4322 | 7159 | OMIM:602111 | Spondyloepimetaphyseal dysplasia, Missouri type | | | | 52 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | NANS CL E G H | 54187 | 19237 | OMIM:610442 | Spondyloepimetaphyseal dysplasia, Genevieve type | | | | 8 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | NDNF CL E G H | 79625 | 26256 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | NEU1 CL E G H | 4758 | 7758 | ORPHA:812 | Sialidosis type 1 | HP:0040281 - Very frequent | | | 43 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | | | | 1952 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | NKX3-2 CL E G H | 579 | 951 | OMIM:613330 | Spondylo-Megaepiphyseal-Metaphyseal dysplasia | | | | 10 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:1451 | CINCA syndrome | HP:0040282 - Frequent | | | 217 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:619260 | SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA | | | | 15 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | NOTCH2 CL E G H | 4853 | 7882 | ORPHA:955 | Hajdu-Cheney syndrome | HP:0040281 - Very frequent | | | 138 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | NPR2 CL E G H | 4882 | 7944 | OMIM:615923 | Epiphyseal chondrodysplasia, Miura type | | | | 53 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | P4HB CL E G H | 5034 | 8548 | ORPHA:2050 | Cole-Carpenter syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | PAM16 CL E G H | 51025 | 29679 | OMIM:613320 | Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type | | | | 1 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | PAPSS2 CL E G H | 9060 | 8604 | OMIM:612847 | Brachyolmia 4 with mild epiphyseal and metaphyseal changes | | | | 20 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | PCYT1A CL E G H | 5130 | 8754 | OMIM:608940 | Spondylometaphyseal dysplasia with cone-rod dystrophy | | | | 11 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | PERCC1 CL E G H | 105371045 | 52293 | ORPHA:92050 | Congenital tufting enteropathy | HP:0040284 - Very rare | | | | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | PEX1 CL E G H | 5189 | 8850 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 169 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | PEX10 CL E G H | 5192 | 8851 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 75 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | PEX11B CL E G H | 8799 | 8853 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | PEX12 CL E G H | 5193 | 8854 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | PEX13 CL E G H | 5194 | 8855 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 66 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | PEX14 CL E G H | 5195 | 8856 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 46 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | PEX16 CL E G H | 9409 | 8857 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 59 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | PEX19 CL E G H | 5824 | 9713 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 62 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | PEX2 CL E G H | 5828 | 9717 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 82 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | PEX26 CL E G H | 55670 | 22965 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 106 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | PEX3 CL E G H | 8504 | 8858 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 47 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | PEX5 CL E G H | 5830 | 9719 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 99 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 98 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | PEX7 CL E G H | 5191 | 8860 | ORPHA:773 | Refsum disease | HP:0040281 - Very frequent | | | 72 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | PEX7 CL E G H | 5191 | 8860 | OMIM:266500 | Refsum disease | | | | 72 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | PHYH CL E G H | 5264 | 8940 | OMIM:266500 | Refsum disease | | | | 45 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | PHYH CL E G H | 5264 | 8940 | ORPHA:773 | Refsum disease | HP:0040281 - Very frequent | | | 45 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | PIK3C2A CL E G H | 5286 | 8971 | ORPHA:557003 | Oculocerebrodental syndrome | | | | | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | POLE CL E G H | 5426 | 9177 | ORPHA:85173 | IMAGe syndrome | | | | 1129 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | POLE CL E G H | 5426 | 9177 | OMIM:618336 | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency | | | | 1129 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | POLR1B CL E G H | 84172 | 20454 | ORPHA:861 | Treacher-Collins syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | POLR1C CL E G H | 9533 | 20194 | ORPHA:861 | Treacher-Collins syndrome | HP:0040281 - Very frequent | | | 38 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | POLR1D CL E G H | 51082 | 20422 | ORPHA:861 | Treacher-Collins syndrome | HP:0040281 - Very frequent | | | 31 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | POP1 CL E G H | 10940 | 30129 | OMIM:617396 | Anauxetic dysplasia 2 | | | | 6 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | PROK2 CL E G H | 60675 | 18455 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | HP:0040281 - Very frequent | | | 948 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:2969 | Proteus-like syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | PTH1R CL E G H | 5745 | 9608 | ORPHA:50945 | Blomstrand lethal chondrodysplasia | | | | 58 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | PTH1R CL E G H | 5745 | 9608 | ORPHA:79106 | Eiken syndrome | | | | 58 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | PTH1R CL E G H | 5745 | 9608 | OMIM:600002 | Eiken syndrome | | | | 58 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | PTH1R CL E G H | 5745 | 9608 | OMIM:156400 | Metaphyseal chondrodysplasia, Jansen type | | | | 58 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | RECQL4 CL E G H | 9401 | 9949 | ORPHA:221016 | Rothmund-Thomson syndrome type 2 | | | | 445 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | RMRP CL E G H | 6023 | 10031 | OMIM:250250 | Cartilage-Hair hypoplasia | | | | 37 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | RMRP CL E G H | 6023 | 10031 | ORPHA:175 | Cartilage-hair hypoplasia | HP:0040281 - Very frequent | | | 37 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | RMRP CL E G H | 6023 | 10031 | OMIM:250460 | Metaphyseal dysplasia without hypotrichosis | | | | 37 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:226960 | EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS | | | | 15 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:1824 | Lowry-Wood syndrome | | | | 15 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:616651 | Roifman syndrome | | | | 15 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | | | | 15 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | RPL10 CL E G H | 6134 | 10298 | OMIM:300998 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35 | | | | 10 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | RPL10 CL E G H | 6134 | 10298 | ORPHA:459070 | X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome | | | | 10 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | RSPRY1 CL E G H | 89970 | 29420 | ORPHA:457395 | Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | | | | 2 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | RUNX2 CL E G H | 860 | 10472 | ORPHA:1452 | Cleidocranial dysplasia | HP:0040281 - Very frequent | | | 90 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | RUNX2 CL E G H | 860 | 10472 | OMIM:156510 | Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly | | | | 90 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | SBDS CL E G H | 51119 | 19440 | ORPHA:811 | Shwachman-Diamond syndrome | | | | 26 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | SBDS CL E G H | 51119 | 19440 | OMIM:260400 | Shwachman-Diamond syndrome 1 | | | | 26 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | SEC23A CL E G H | 10484 | 10701 | ORPHA:50814 | Craniolenticulosutural dysplasia | HP:0040281 - Very frequent | | | 2 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | SEC24D CL E G H | 9871 | 10706 | ORPHA:2050 | Cole-Carpenter syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | SEMA3A CL E G H | 10371 | 10723 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | SF3B4 CL E G H | 10262 | 10771 | ORPHA:245 | Nager syndrome | HP:0040281 - Very frequent | | | 49 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | SFRP4 CL E G H | 6424 | 10778 | OMIM:265900 | Pyle disease | | | | 3 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:93298 | Achondrogenesis type 1B | | | | 166 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:226900 | Epiphyseal dysplasia, multiple, 4 | | | | 166 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:93307 | Multiple epiphyseal dysplasia type 4 | HP:0040281 - Very frequent | | | 166 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | SLC39A13 CL E G H | 91252 | 20859 | ORPHA:157965 | SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 24 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | | | | 74 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | | | | 74 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | SMO CL E G H | 6608 | 11119 | OMIM:241800 | Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included | . | | | 22 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | SOX10 CL E G H | 6663 | 11190 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 61 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | SRP54 CL E G H | 6729 | 11301 | ORPHA:811 | Shwachman-Diamond syndrome | | | | | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | SRP54 CL E G H | 6729 | 11301 | OMIM:260400 | Shwachman-Diamond syndrome 1 | | | | | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | STAC3 CL E G H | 246329 | 28423 | OMIM:255995 | Myopathy, congenital, bailey-bloch | | | | 14 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | TACR3 CL E G H | 6870 | 11528 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | TBXAS1 CL E G H | 6916 | 11609 | OMIM:231095 | Ghosal hematodiaphyseal dysplasia | | | | 16 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | TCOF1 CL E G H | 6949 | 11654 | ORPHA:861 | Treacher-Collins syndrome | HP:0040281 - Very frequent | | | 140 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | TGFB1 CL E G H | 7040 | 11766 | ORPHA:1328 | Camurati-Engelmann disease | HP:0040281 - Very frequent | | | 13 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | TMEM165 CL E G H | 55858 | 30760 | OMIM:614727 | Congenital disorder of glycosylation, type IIK | | | | 24 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | TMEM53 CL E G H | 79639 | 26186 | OMIM:619727 | CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI | | | | | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:140976 | RHYNS syndrome | HP:0040282 - Frequent | | | 166 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:602152 | Rhyns syndrome | . | | | 166 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | TONSL CL E G H | 4796 | 7801 | OMIM:271510 | Spondyloepimetaphyseal dysplasia, Sponastrime type | | | | | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | TRAPPC2 CL E G H | 6399 | 23068 | ORPHA:93284 | Spondyloepiphyseal dysplasia tarda | | | | 46 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | TRAPPC2 CL E G H | 6399 | 23068 | OMIM:313400 | Spondyloepiphyseal dysplasia tarda, X-linked | | | | 46 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | TREM2 CL E G H | 54209 | 17761 | ORPHA:2770 | Nasu-Hakola disease | HP:0040281 - Very frequent | | | 31 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | TRIP11 CL E G H | 9321 | 12305 | ORPHA:93299 | Achondrogenesis type 1A | | | | 133 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | TRIP11 CL E G H | 9321 | 12305 | OMIM:184260 | Osteochondrodysplasia | | | | 133 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:156530 | Metatropic dysplasia | | | | 214 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:2635 | Metatropic dysplasia | HP:0040281 - Very frequent | | | 214 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:184095 | Spondyloepiphyseal dysplasia, Maroteaux type | | | | 214 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:184252 | Spondylometaphyseal dysplasia, Kozlowski type | | | | 214 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | TTC21B CL E G H | 79809 | 25660 | ORPHA:474 | Jeune syndrome | HP:0040281 - Very frequent | | | 132 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | TYROBP CL E G H | 7305 | 12449 | ORPHA:2770 | Nasu-Hakola disease | HP:0040281 - Very frequent | | | 22 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | UFSP2 CL E G H | 55325 | 25640 | OMIM:617974 | Spondyloepimetaphyseal dysplasia, DI Rocco type | | | | 2 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | VPS33A CL E G H | 65082 | 18179 | ORPHA:505248 | Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders | HP:0040283 - Occasional | | | 1 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | WDR11 CL E G H | 55717 | 13831 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | WDR19 CL E G H | 57728 | 18340 | ORPHA:474 | Jeune syndrome | HP:0040281 - Very frequent | | | 95 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | WDR35 CL E G H | 57539 | 29250 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | 136 | | |
HP:0002652 | HP:0002652 | Skeletal dysplasia | 0 | XYLT1 CL E G H | 64131 | 15516 | OMIM:615777 | Desbuquois dysplasia 2 | | | | 14 | | |
HP:0002652 | HP:0002651 | Spondyloepimetaphyseal dysplasia | 1 | ACAN CL E G H | 176 | 319 | OMIM:612813 | Spondyloepimetaphyseal dysplasia, Aggrecan type | . | | | 34 | | |
HP:0002652 | HP:0002655 | Spondyloepiphyseal dysplasia | 1 | ACAN CL E G H | 176 | 319 | ORPHA:93283 | Spondyloepiphyseal dysplasia, Kimberley type | HP:0040281 - Very frequent | | | 34 | | |
HP:0002652 | HP:0002655 | Spondyloepiphyseal dysplasia | 1 | ACAN CL E G H | 176 | 319 | OMIM:608361 | Spondyloepiphyseal dysplasia, Kimberley type | . | | | 34 | | |
HP:0002652 | HP:0100255 | Metaphyseal dysplasia | 1 | ACP5 CL E G H | 54 | 124 | ORPHA:1855 | Spondyloenchondrodysplasia | HP:0040281 - Very frequent | | | 16 | | |
HP:0002652 | HP:0002657 | Spondylometaphyseal dysplasia | 1 | ACP5 CL E G H | 54 | 124 | OMIM:607944 | Spondyloenchondrodysplasia with immune dysregulation | . | | | 16 | | |
HP:0002652 | HP:0100255 | Metaphyseal dysplasia | 1 | ACP5 CL E G H | 54 | 124 | OMIM:607944 | Spondyloenchondrodysplasia with immune dysregulation | | | | 16 | | |
HP:0002652 | HP:0100255 | Metaphyseal dysplasia | 1 | AIFM1 CL E G H | 9131 | 8768 | ORPHA:83629 | Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome | | | | 60 | | |
HP:0002652 | HP:0002651 | Spondyloepimetaphyseal dysplasia | 1 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300232 | Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration | . | | | 60 | | |
HP:0002652 | HP:0100255 | Metaphyseal dysplasia | 1 | ALG3 CL E G H | 10195 | 23056 | ORPHA:79321 | ALG3-CDG | | | | 37 | | |
HP:0002652 | HP:0005775 | Multiple skeletal anomalies | 1 | ANAPC1 CL E G H | 64682 | 19988 | ORPHA:221008 | Rothmund-Thomson syndrome type 1 | HP:0040282 - Frequent | | | 2 | | |
HP:0002652 | HP:0002656 | Epiphyseal dysplasia | 1 | ARSB CL E G H | 411 | 714 | OMIM:253200 | Mucopolysaccharidosis, type VI | . | | | 120 | | |
HP:0002652 | HP:0002651 | Spondyloepimetaphyseal dysplasia | 1 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:536467 | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 38 | | |
HP:0002652 | HP:0002656 | Epiphyseal dysplasia | 1 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:615349 | Ehlers-Danlos syndrome, spondylodysplastic type, 2 | . | | | 38 | | |
HP:0002652 | HP:0002651 | Spondyloepimetaphyseal dysplasia | 1 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:271640 | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | . | | | 38 | | |
HP:0002652 | HP:0002656 | Epiphyseal dysplasia | 1 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:271640 | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | . | | | 38 | | |
HP:0002652 | HP:0002651 | Spondyloepimetaphyseal dysplasia | 1 | BGN CL E G H | 633 | 1044 | OMIM:300106 | Spondyloepimetaphyseal dysplasia, X-linked | . | | | 7 | | |
HP:0002652 | HP:0002656 | Epiphyseal dysplasia | 1 | CANT1 CL E G H | 124583 | 19721 | OMIM:617719 | EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7 | | | | 85 | | |
HP:0002652 | HP:0002655 | Spondyloepiphyseal dysplasia | 1 | CCN6 CL E G H | 8838 | 12771 | ORPHA:1159 | Progressive pseudorheumatoid arthropathy of childhood | HP:0040281 - Very frequent | | | | | |
HP:0002652 | HP:0100255 | Metaphyseal dysplasia | 1 | CDKN1C CL E G H | 1028 | 1786 | ORPHA:85173 | IMAGe syndrome | HP:0040281 - Very frequent | | | 114 | | |
HP:0002652 | HP:0002656 | Epiphyseal dysplasia | 1 | CDKN1C CL E G H | 1028 | 1786 | OMIM:614732 | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies | . | | | 114 | | |
HP:0002652 | HP:0100255 | Metaphyseal dysplasia | 1 | CDKN1C CL E G H | 1028 | 1786 | OMIM:614732 | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies | . | | | 114 | | |
HP:0002652 | HP:0002657 | Spondylometaphyseal dysplasia | 1 | CFAP410 CL E G H | 755 | 1260 | OMIM:602271 | Spondylometaphyseal dysplasia, axial | . | | | | | |
HP:0002652 | HP:0002655 | Spondyloepiphyseal dysplasia | 1 | CHST3 CL E G H | 9469 | 1971 | OMIM:143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | . | | | 165 | | |
HP:0002652 | HP:0100255 | Metaphyseal dysplasia | 1 | COL10A1 CL E G H | 1300 | 2185 | OMIM:156500 | Metaphyseal chondrodysplasia, Schmid type | | | | 79 | | |
HP:0002652 | HP:0002656 | Epiphyseal dysplasia | 1 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:250984 | Autosomal recessive Stickler syndrome | HP:0040281 - Very frequent | | | 215 | | |
HP:0002652 | HP:0002655 | Spondyloepiphyseal dysplasia | 1 | COL11A1 CL E G H | 1301 | 2186 | OMIM:604841 | Stickler syndrome, type II | . | | | 215 | | |
HP:0002652 | HP:0002656 | Epiphyseal dysplasia | 1 | COL11A2 CL E G H | 1302 | 2187 | OMIM:215150 | Otospondylomegaepiphyseal dysplasia | . | | | 222 | | |
HP:0002652 | HP:0002656 | Epiphyseal dysplasia | 1 | COL11A2 CL E G H | 1302 | 2187 | ORPHA:1427 | Otospondylomegaepiphyseal dysplasia | HP:0040282 - Frequent | | | 222 | | |
HP:0002652 | HP:0002656 | Epiphyseal dysplasia | 1 | COL11A2 CL E G H | 1302 | 2187 | OMIM:184840 | Stickler syndrome, type III | . | | | 222 | | |
HP:0002652 | HP:0002657 | Spondylometaphyseal dysplasia | 1 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:85198 | Dysspondyloenchondromatosis | HP:0040281 - Very frequent | | | 284 | | |
HP:0002652 | HP:0002656 | Epiphyseal dysplasia | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:132450 | Epiphyseal dysplasia, multiple, with myopia and conductive deafness | . | | | 284 | | |
HP:0002652 | HP:0002654 | Multiple epiphyseal dysplasia | 1 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:166011 | Multiple epiphyseal dysplasia, Beighton type | HP:0040281 - Very frequent | | | 284 | | |
HP:0002652 | HP:0005716 | Lethal skeletal dysplasia | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:151210 | Platyspondylic lethal skeletal dysplasia, Torrance type | . | | | 284 | | |
HP:0002652 | HP:0002651 | Spondyloepimetaphyseal dysplasia | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:184250 | Spondyloepimetaphyseal dysplasia, Strudwick type | . | | | 284 | | |
HP:0002652 | HP:0002655 | Spondyloepiphyseal dysplasia | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:183900 | Spondyloepiphyseal dysplasia congenita | | | | 284 | | |
HP:0002652 | HP:0002655 | Spondyloepiphyseal dysplasia | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:616583 | Spondyloepiphyseal dysplasia, Stanescu type | . | | | 284 | | |
HP:0002652 | HP:0002657 | Spondylometaphyseal dysplasia | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:184255 | Spondylometaphyseal dysplasia, corner Fracture type | . | | | 284 | | |
HP:0002652 | HP:0100255 | Metaphyseal dysplasia | 1 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93316 | Spondylometaphyseal dysplasia, Schmidt type | HP:0040281 - Very frequent | | | 284 | | |
HP:0002652 | HP:0002655 | Spondyloepiphyseal dysplasia | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:271700 | Spondyloperipheral dysplasia | . | | | 284 | | |
HP:0002652 | HP:0002655 | Spondyloepiphyseal dysplasia | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:108300 | Stickler syndrome, type I | . | | | 284 | | |
HP:0002652 | HP:0002656 | Epiphyseal dysplasia | 1 | COL9A1 CL E G H | 1297 | 2217 | ORPHA:250984 | Autosomal recessive Stickler syndrome | HP:0040281 - Very frequent | | | 110 | | |
HP:0002652 | HP:0002654 | Multiple epiphyseal dysplasia | 1 | COL9A1 CL E G H | 1297 | 2217 | OMIM:614135 | Epiphyseal dysplasia, multiple, 6 | | | | 110 | | |
HP:0002652 | HP:0002656 | Epiphyseal dysplasia | 1 | COL9A1 CL E G H | 1297 | 2217 | OMIM:614134 | STICKLER SYNDROME, TYPE IV; STL4 | | | | 110 | | |
HP:0002652 | HP:0002656 | Epiphyseal dysplasia | 1 | COL9A2 CL E G H | 1298 | 2218 | ORPHA:250984 | Autosomal recessive Stickler syndrome | HP:0040281 - Very frequent | | | 110 | | |
HP:0002652 | HP:0002656 | Epiphyseal dysplasia | 1 | COL9A2 CL E G H | 1298 | 2218 | OMIM:600204 | Epiphyseal dysplasia, multiple, 2 | . | | | 110 | | |
HP:0002652 | HP:0002656 | Epiphyseal dysplasia | 1 | COL9A3 CL E G H | 1299 | 2219 | ORPHA:250984 | Autosomal recessive Stickler syndrome | HP:0040281 - Very frequent | | | 137 | | |
HP:0002652 | HP:0002656 | Epiphyseal dysplasia | 1 | COL9A3 CL E G H | 1299 | 2219 | OMIM:600969 | Epiphyseal dysplasia, multiple, 3, with or without myopathy | . | | | 137 | | |
HP:0002652 | HP:0002656 | Epiphyseal dysplasia | 1 | COMP CL E G H | 1311 | 2227 | OMIM:132400 | Epiphyseal dysplasia, multiple, 1 | . | | | 89 | | |
HP:0002652 | HP:0100255 | Metaphyseal dysplasia | 1 | CWC27 CL E G H | 10283 | 10664 | ORPHA:166035 | Brachydactyly-short stature-retinitis pigmentosa syndrome | | | | 4 | | |
HP:0002652 | HP:0100255 | Metaphyseal dysplasia | 1 | CWC27 CL E G H | 10283 | 10664 | OMIM:250410 | Retinitis pigmentosa with or without skeletal anomalies | . | | | 4 | | |
HP:0002652 | HP:0002651 | Spondyloepimetaphyseal dysplasia | 1 | DDR2 CL E G H | 4921 | 2731 | OMIM:271665 | Spondylometaepiphyseal dysplasia, short Limb-Hand type | . | | | 45 | | |
HP:0002652 | HP:0002651 | Spondyloepimetaphyseal dysplasia | 1 | DDRGK1 CL E G H | 65992 | 16110 | OMIM:602557 | Spondyloepimetaphyseal dysplasia, Shohat type | . | | | | | |
HP:0002652 | HP:0100255 | Metaphyseal dysplasia | 1 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:617052 | Bone marrow failure syndrome 3 | HP:0040284 - Very rare | | | 5 | | |
HP:0002652 | HP:0100255 | Metaphyseal dysplasia | 1 | DNAJC21 CL E G H | 134218 | 27030 | ORPHA:811 | Shwachman-Diamond syndrome | | | | 5 | | |
HP:0002652 | HP:0100255 | Metaphyseal dysplasia | 1 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:260400 | Shwachman-Diamond syndrome 1 | | | | 5 | | |
HP:0002652 | HP:0002656 | Epiphyseal dysplasia | 1 | DPYD CL E G H | 1806 | 3012 | ORPHA:1675 | Dihydropyrimidine dehydrogenase deficiency | HP:0040283 - Occasional | | | 144 | | |
HP:0002652 | HP:0002651 | Spondyloepimetaphyseal dysplasia | 1 | DYM CL E G H | 54808 | 21317 | ORPHA:239 | Dyggve-Melchior-Clausen disease | HP:0040281 - Very frequent | | | 65 | | |
HP:0002652 | HP:0100255 | Metaphyseal dysplasia | 1 | DYM CL E G H | 54808 | 21317 | ORPHA:239 | Dyggve-Melchior-Clausen disease | HP:0040282 - Frequent | | | 65 | | |
HP:0002652 | HP:0002656 | Epiphyseal dysplasia | 1 | DYM CL E G H | 54808 | 21317 | ORPHA:239 | Dyggve-Melchior-Clausen disease | HP:0040282 - Frequent | | | 65 | | |
HP:0002652 | HP:0005716 | Lethal skeletal dysplasia | 1 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040281 - Very frequent | | | 304 | | |
HP:0002652 | HP:0005716 | Lethal skeletal dysplasia | 1 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040281 - Very frequent | | | | | |
HP:0002652 | HP:0005716 | Lethal skeletal dysplasia | 1 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040281 - Very frequent | | | | | |
HP:0002652 | HP:0100255 | Metaphyseal dysplasia | 1 | EFL1 CL E G H | 79631 | 25789 | ORPHA:811 | Shwachman-Diamond syndrome | | | | 1 | | |
HP:0002652 | HP:0002654 | Multiple epiphyseal dysplasia | 1 | EIF2AK3 CL E G H | 9451 | 3255 | OMIM:226980 | Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus | . | | | 65 | | |
HP:0002652 | HP:0002656 | Epiphyseal dysplasia | 1 | EIF2AK3 CL E G H | 9451 | 3255 | OMIM:226980 | Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus | . | | | 65 | | |
HP:0002652 | HP:0002654 | Multiple epiphyseal dysplasia | 1 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | HP:0040282 - Frequent | | | 65 | | |
HP:0002652 | HP:0100255 | Metaphyseal dysplasia | 1 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | HP:0040282 - Frequent | | | 65 | | |
HP:0002652 | HP:0002651 | Spondyloepimetaphyseal dysplasia | 1 | EXOC6B CL E G H | 23233 | 17085 | OMIM:618395 | Spondyloepimetaphyseal dysplasia with joint laxity, type 3 | . | | | 3 | | |
HP:0002652 | HP:0002656 | Epiphyseal dysplasia | 1 | EXTL3 CL E G H | 2137 | 3518 | OMIM:617425 | Immunoskeletal dysplasia with neurodevelopmental abnormalities | . | | | 3 | | |
HP:0002652 | HP:0100255 | Metaphyseal dysplasia | 1 | EXTL3 CL E G H | 2137 | 3518 | OMIM:617425 | Immunoskeletal dysplasia with neurodevelopmental abnormalities | . | | | 3 | | |
HP:0002652 | HP:0100255 | Metaphyseal dysplasia | 1 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:85165 | Severe achondroplasia-developmental delay-acanthosis nigricans syndrome | | | | 145 | | |
HP:0002652 | HP:0002656 | Epiphyseal dysplasia | 1 | FLNB CL E G H | 2317 | 3755 | OMIM:272460 | Spondylocarpotarsal synostosis syndrome | . | | | 233 | | |
HP:0002652 | HP:0002657 | Spondylometaphyseal dysplasia | 1 | FN1 CL E G H | 2335 | 3778 | OMIM:184255 | Spondylometaphyseal dysplasia, corner Fracture type | . | | | 9 | | |
HP:0002652 | HP:0002656 | Epiphyseal dysplasia | 1 | GEMIN4 CL E G H | 50628 | 15717 | OMIM:617913 | Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities | | | | 1 | | |
HP:0002652 | HP:0100255 | Metaphyseal dysplasia | 1 | GJA1 CL E G H | 2697 | 4274 | OMIM:218400 | Craniometaphyseal dysplasia, autosomal recessive | . | | | 68 | | |
HP:0002652 | HP:0002656 | Epiphyseal dysplasia | 1 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | | | | 69 | | |
HP:0002652 | HP:0002657 | Spondylometaphyseal dysplasia | 1 | GPX4 CL E G H | 2879 | 4556 | ORPHA:93317 | Spondylometaphyseal dysplasia, Sedaghatian type | HP:0040281 - Very frequent | | | 3 | | |
HP:0002652 | HP:0002657 | Spondylometaphyseal dysplasia | 1 | GPX4 CL E G H | 2879 | 4556 | OMIM:250220 | Spondylometaphyseal dysplasia, Sedaghatian type | . | | | 3 | | |
HP:0002652 | HP:0100255 | Metaphyseal dysplasia | 1 | GPX4 CL E G H | 2879 | 4556 | ORPHA:93317 | Spondylometaphyseal dysplasia, Sedaghatian type | | | | 3 | | |
HP:0002652 | HP:0100255 | Metaphyseal dysplasia | 1 | HDAC6 CL E G H | 10013 | 14064 | ORPHA:163966 | X-linked dominant chondrodysplasia, Chassaing-Lacombe type | | | | 2 | | |
HP:0002652 | HP:0002656 | Epiphyseal dysplasia | 1 | HSPA9 CL E G H | 3313 | 5244 | OMIM:616854 | Even-Plus syndrome | | | | 6 | | |
HP:0002652 | HP:0002655 | Spondyloepiphyseal dysplasia | 1 | IARS2 CL E G H | 55699 | 29685 | ORPHA:436174 | Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome | HP:0040281 - Very frequent | | | 25 | | |
HP:0002652 | HP:0002651 | Spondyloepimetaphyseal dysplasia | 1 | IARS2 CL E G H | 55699 | 29685 | OMIM:616007 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | . | | | 25 | | |
HP:0002652 | HP:0100255 | Metaphyseal dysplasia | 1 | IDH1 CL E G H | 3417 | 5382 | ORPHA:99646 | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | | | | 15 | | |
HP:0002652 | HP:0005716 | Lethal skeletal dysplasia | 1 | IFT80 CL E G H | 57560 | 29262 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040281 - Very frequent | | | 65 | | |
HP:0002652 | HP:0002651 | Spondyloepimetaphyseal dysplasia | 1 | KIF22 CL E G H | 3835 | 6391 | OMIM:603546 | Spondyloepimetaphyseal dysplasia with joint laxity, type 2 | . | | | 14 | | |
HP:0002652 | HP:0002656 | Epiphyseal dysplasia | 1 | KIF22 CL E G H | 3835 | 6391 | ORPHA:93360 | Spondyloepimetaphyseal dysplasia with multiple dislocations | HP:0040281 - Very frequent | | | 14 | | |
HP:0002652 | HP:0002651 | Spondyloepimetaphyseal dysplasia | 1 | KIF22 CL E G H | 3835 | 6391 | ORPHA:93360 | Spondyloepimetaphyseal dysplasia with multiple dislocations | HP:0040282 - Frequent | | | 14 | | |
HP:0002652 | HP:0002654 | Multiple epiphyseal dysplasia | 1 | KIF7 CL E G H | 374654 | 30497 | OMIM:607131 | Al-Gazali-Bakalinova syndrome | . | | | 167 | | |
HP:0002652 | HP:0002656 | Epiphyseal dysplasia | 1 | KIF7 CL E G H | 374654 | 30497 | OMIM:607131 | Al-Gazali-Bakalinova syndrome | | | | 167 | | |
HP:0002652 | HP:0002654 | Multiple epiphyseal dysplasia | 1 | KIF7 CL E G H | 374654 | 30497 | ORPHA:166024 | Multiple epiphyseal dysplasia, Al-Gazali type | HP:0040281 - Very frequent | | | 167 | | |
HP:0002652 | HP:0005716 | Lethal skeletal dysplasia | 1 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0002652 | HP:0100255 | Metaphyseal dysplasia | 1 | LBR CL E G H | 3930 | 6518 | OMIM:618019 | PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK | | | | 70 | | |
HP:0002652 | HP:0100255 | Metaphyseal dysplasia | 1 | LONP1 CL E G H | 9361 | 9479 | OMIM:600373 | CODAS syndrome | | | | 8 | | |
HP:0002652 | HP:0002656 | Epiphyseal dysplasia | 1 | LOXL3 CL E G H | 84695 | 13869 | ORPHA:250984 | Autosomal recessive Stickler syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0002652 | HP:0100255 | Metaphyseal dysplasia | 1 | LRRK1 CL E G H | 79705 | 18608 | OMIM:615198 | Osteosclerotic metaphyseal dysplasia | . | | | 1 | | |
HP:0002652 | HP:0002656 | Epiphyseal dysplasia | 1 | LTBP3 CL E G H | 4054 | 6716 | OMIM:617809 | Geleophysic dysplasia 3 | . | | | 12 | | |
HP:0002652 | HP:0002656 | Epiphyseal dysplasia | 1 | MATN3 CL E G H | 4148 | 6909 | OMIM:607078 | Epiphyseal dysplasia, multiple, 5 | . | | | 32 | | |
HP:0002652 | HP:0002654 | Multiple epiphyseal dysplasia | 1 | MATN3 CL E G H | 4148 | 6909 | OMIM:607078 | Epiphyseal dysplasia, multiple, 5 | | | | 32 | | |
HP:0002652 | HP:0002651 | Spondyloepimetaphyseal dysplasia | 1 | MATN3 CL E G H | 4148 | 6909 | OMIM:608728 | Spondyloepimetaphyseal dysplasia, matrilin-3 related | . | | | 32 | | |
HP:0002652 | HP:0002655 | Spondyloepiphyseal dysplasia | 1 | MBTPS1 CL E G H | 8720 | 15456 | OMIM:618392 | Spondyloepiphyseal dysplasia, Kondo-Fu type | . | | | | | |
HP:0002652 | HP:0100255 | Metaphyseal dysplasia | 1 | MMP13 CL E G H | 4322 | 7159 | ORPHA:2501 | Metaphyseal chondrodysplasia, Spahr type | HP:0040281 - Very frequent | | | 52 | | |
HP:0002652 | HP:0100255 | Metaphyseal dysplasia | 1 | MMP13 CL E G H | 4322 | 7159 | OMIM:250400 | Metaphyseal chondrodysplasia, Spahr type | . | | | 52 | | |
HP:0002652 | HP:0002651 | Spondyloepimetaphyseal dysplasia | 1 | MMP13 CL E G H | 4322 | 7159 | OMIM:602111 | Spondyloepimetaphyseal dysplasia, Missouri type | . | | | 52 | | |
HP:0002652 | HP:0002651 | Spondyloepimetaphyseal dysplasia | 1 | NANS CL E G H | 54187 | 19237 | OMIM:610442 | Spondyloepimetaphyseal dysplasia, Genevieve type | . | | | 8 | | |
HP:0002652 | HP:0100252 | Diaphyseal dysplasia | 1 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | HP:0040284 - Very rare | | | 1952 | | |
HP:0002652 | HP:0100255 | Metaphyseal dysplasia | 1 | NKX3-2 CL E G H | 579 | 951 | OMIM:613330 | Spondylo-Megaepiphyseal-Metaphyseal dysplasia | . | | | 10 | | |
HP:0002652 | HP:0002655 | Spondyloepiphyseal dysplasia | 1 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:619260 | SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA | | | | 15 | | |
HP:0002652 | HP:0002656 | Epiphyseal dysplasia | 1 | NPR2 CL E G H | 4882 | 7944 | OMIM:615923 | Epiphyseal chondrodysplasia, Miura type | . | | | 53 | | |
HP:0002652 | HP:0002657 | Spondylometaphyseal dysplasia | 1 | PAM16 CL E G H | 51025 | 29679 | OMIM:613320 | Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type | . | | | 1 | | |
HP:0002652 | HP:0002651 | Spondyloepimetaphyseal dysplasia | 1 | PAPSS2 CL E G H | 9060 | 8604 | OMIM:612847 | Brachyolmia 4 with mild epiphyseal and metaphyseal changes | . | | | 20 | | |
HP:0002652 | HP:0002657 | Spondylometaphyseal dysplasia | 1 | PCYT1A CL E G H | 5130 | 8754 | OMIM:608940 | Spondylometaphyseal dysplasia with cone-rod dystrophy | . | | | 11 | | |
HP:0002652 | HP:0002654 | Multiple epiphyseal dysplasia | 1 | PEX7 CL E G H | 5191 | 8860 | OMIM:266500 | Refsum disease | . | | | 72 | | |
HP:0002652 | HP:0002654 | Multiple epiphyseal dysplasia | 1 | PHYH CL E G H | 5264 | 8940 | OMIM:266500 | Refsum disease | . | | | 45 | | |
HP:0002652 | HP:0100255 | Metaphyseal dysplasia | 1 | PIK3C2A CL E G H | 5286 | 8971 | ORPHA:557003 | Oculocerebrodental syndrome | HP:0040283 - Occasional | | | | | |
HP:0002652 | HP:0100255 | Metaphyseal dysplasia | 1 | POLE CL E G H | 5426 | 9177 | ORPHA:85173 | IMAGe syndrome | HP:0040281 - Very frequent | | | 1129 | | |
HP:0002652 | HP:0100255 | Metaphyseal dysplasia | 1 | POLE CL E G H | 5426 | 9177 | OMIM:618336 | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency | . | | | 1129 | | |
HP:0002652 | HP:0100255 | Metaphyseal dysplasia | 1 | POP1 CL E G H | 10940 | 30129 | OMIM:617396 | Anauxetic dysplasia 2 | . | | | 6 | | |
HP:0002652 | HP:0005716 | Lethal skeletal dysplasia | 1 | PTH1R CL E G H | 5745 | 9608 | ORPHA:50945 | Blomstrand lethal chondrodysplasia | HP:0040281 - Very frequent | | | 58 | | |
HP:0002652 | HP:0002656 | Epiphyseal dysplasia | 1 | PTH1R CL E G H | 5745 | 9608 | ORPHA:79106 | Eiken syndrome | HP:0040281 - Very frequent | | | 58 | | |
HP:0002652 | HP:0100255 | Metaphyseal dysplasia | 1 | PTH1R CL E G H | 5745 | 9608 | OMIM:156400 | Metaphyseal chondrodysplasia, Jansen type | | | | 58 | | |
HP:0002652 | HP:0005775 | Multiple skeletal anomalies | 1 | RECQL4 CL E G H | 9401 | 9949 | ORPHA:221016 | Rothmund-Thomson syndrome type 2 | HP:0040282 - Frequent | | | 445 | | |
HP:0002652 | HP:0100255 | Metaphyseal dysplasia | 1 | RMRP CL E G H | 6023 | 10031 | OMIM:250250 | Cartilage-Hair hypoplasia | . | | | 37 | | |
HP:0002652 | HP:0100255 | Metaphyseal dysplasia | 1 | RMRP CL E G H | 6023 | 10031 | ORPHA:175 | Cartilage-hair hypoplasia | HP:0040281 - Very frequent | | | 37 | | |
HP:0002652 | HP:0100255 | Metaphyseal dysplasia | 1 | RMRP CL E G H | 6023 | 10031 | OMIM:250460 | Metaphyseal dysplasia without hypotrichosis | . | | | 37 | | |
HP:0002652 | HP:0002654 | Multiple epiphyseal dysplasia | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:226960 | EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS | | | | 15 | | |
HP:0002652 | HP:0002656 | Epiphyseal dysplasia | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:1824 | Lowry-Wood syndrome | HP:0040281 - Very frequent | | | 15 | | |
HP:0002652 | HP:0002656 | Epiphyseal dysplasia | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | HP:0040282 - Frequent | | | 15 | | |
HP:0002652 | HP:0002655 | Spondyloepiphyseal dysplasia | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | HP:0040282 - Frequent | | | 15 | | |
HP:0002652 | HP:0002655 | Spondyloepiphyseal dysplasia | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:616651 | Roifman syndrome | . | | | 15 | | |
HP:0002652 | HP:0002655 | Spondyloepiphyseal dysplasia | 1 | RPL10 CL E G H | 6134 | 10298 | OMIM:300998 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35 | | | | 10 | | |
HP:0002652 | HP:0002655 | Spondyloepiphyseal dysplasia | 1 | RPL10 CL E G H | 6134 | 10298 | ORPHA:459070 | X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0002652 | HP:0002651 | Spondyloepimetaphyseal dysplasia | 1 | RSPRY1 CL E G H | 89970 | 29420 | ORPHA:457395 | Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0002652 | HP:0100255 | Metaphyseal dysplasia | 1 | RUNX2 CL E G H | 860 | 10472 | OMIM:156510 | Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly | . | | | 90 | | |
HP:0002652 | HP:0100255 | Metaphyseal dysplasia | 1 | SBDS CL E G H | 51119 | 19440 | ORPHA:811 | Shwachman-Diamond syndrome | | | | 26 | | |
HP:0002652 | HP:0100255 | Metaphyseal dysplasia | 1 | SBDS CL E G H | 51119 | 19440 | OMIM:260400 | Shwachman-Diamond syndrome 1 | | | | 26 | | |
HP:0002652 | HP:0100255 | Metaphyseal dysplasia | 1 | SFRP4 CL E G H | 6424 | 10778 | OMIM:265900 | Pyle disease | . | | | 3 | | |
HP:0002652 | HP:0005716 | Lethal skeletal dysplasia | 1 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:93298 | Achondrogenesis type 1B | HP:0040281 - Very frequent | | | 166 | | |
HP:0002652 | HP:0002656 | Epiphyseal dysplasia | 1 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:226900 | Epiphyseal dysplasia, multiple, 4 | . | | | 166 | | |
HP:0002652 | HP:0002654 | Multiple epiphyseal dysplasia | 1 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:226900 | Epiphyseal dysplasia, multiple, 4 | . | | | 166 | | |
HP:0002652 | HP:0002654 | Multiple epiphyseal dysplasia | 1 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:93307 | Multiple epiphyseal dysplasia type 4 | HP:0040281 - Very frequent | | | 166 | | |
HP:0002652 | HP:0002655 | Spondyloepiphyseal dysplasia | 1 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | . | | | 74 | | |
HP:0002652 | HP:0002655 | Spondyloepiphyseal dysplasia | 1 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | HP:0040282 - Frequent | | | 74 | | |
HP:0002652 | HP:0100255 | Metaphyseal dysplasia | 1 | SRP54 CL E G H | 6729 | 11301 | ORPHA:811 | Shwachman-Diamond syndrome | | | | | | |
HP:0002652 | HP:0100255 | Metaphyseal dysplasia | 1 | SRP54 CL E G H | 6729 | 11301 | OMIM:260400 | Shwachman-Diamond syndrome 1 | | | | | | |
HP:0002652 | HP:0005775 | Multiple skeletal anomalies | 1 | STAC3 CL E G H | 246329 | 28423 | OMIM:255995 | Myopathy, congenital, bailey-bloch | . | | | 14 | | |
HP:0002652 | HP:0100252 | Diaphyseal dysplasia | 1 | TBXAS1 CL E G H | 6916 | 11609 | OMIM:231095 | Ghosal hematodiaphyseal dysplasia | . | | | 16 | | |
HP:0002652 | HP:0100255 | Metaphyseal dysplasia | 1 | TGFB1 CL E G H | 7040 | 11766 | ORPHA:1328 | Camurati-Engelmann disease | HP:0040282 - Frequent | | | 13 | | |
HP:0002652 | HP:0100252 | Diaphyseal dysplasia | 1 | TMEM165 CL E G H | 55858 | 30760 | OMIM:614727 | Congenital disorder of glycosylation, type IIK | . | | | 24 | | |
HP:0002652 | HP:0002656 | Epiphyseal dysplasia | 1 | TMEM165 CL E G H | 55858 | 30760 | OMIM:614727 | Congenital disorder of glycosylation, type IIK | . | | | 24 | | |
HP:0002652 | HP:0100255 | Metaphyseal dysplasia | 1 | TMEM165 CL E G H | 55858 | 30760 | OMIM:614727 | Congenital disorder of glycosylation, type IIK | . | | | 24 | | |
HP:0002652 | HP:0100255 | Metaphyseal dysplasia | 1 | TMEM53 CL E G H | 79639 | 26186 | OMIM:619727 | CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI | | | | | | |
HP:0002652 | HP:0100252 | Diaphyseal dysplasia | 1 | TMEM53 CL E G H | 79639 | 26186 | OMIM:619727 | CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI | | | | | | |
HP:0002652 | HP:0002651 | Spondyloepimetaphyseal dysplasia | 1 | TONSL CL E G H | 4796 | 7801 | OMIM:271510 | Spondyloepimetaphyseal dysplasia, Sponastrime type | . | | | | | |
HP:0002652 | HP:0005775 | Multiple skeletal anomalies | 1 | TRAPPC2 CL E G H | 6399 | 23068 | ORPHA:93284 | Spondyloepiphyseal dysplasia tarda | HP:0040281 - Very frequent | | | 46 | | |
HP:0002652 | HP:0002654 | Multiple epiphyseal dysplasia | 1 | TRAPPC2 CL E G H | 6399 | 23068 | ORPHA:93284 | Spondyloepiphyseal dysplasia tarda | HP:0040281 - Very frequent | | | 46 | | |
HP:0002652 | HP:0002655 | Spondyloepiphyseal dysplasia | 1 | TRAPPC2 CL E G H | 6399 | 23068 | OMIM:313400 | Spondyloepiphyseal dysplasia tarda, X-linked | . | | | 46 | | |
HP:0002652 | HP:0005716 | Lethal skeletal dysplasia | 1 | TRIP11 CL E G H | 9321 | 12305 | ORPHA:93299 | Achondrogenesis type 1A | HP:0040281 - Very frequent | | | 133 | | |
HP:0002652 | HP:0002657 | Spondylometaphyseal dysplasia | 1 | TRIP11 CL E G H | 9321 | 12305 | OMIM:184260 | Osteochondrodysplasia | | | | 133 | | |
HP:0002652 | HP:0002656 | Epiphyseal dysplasia | 1 | TRPV4 CL E G H | 59341 | 18083 | OMIM:156530 | Metatropic dysplasia | . | | | 214 | | |
HP:0002652 | HP:0002655 | Spondyloepiphyseal dysplasia | 1 | TRPV4 CL E G H | 59341 | 18083 | OMIM:184095 | Spondyloepiphyseal dysplasia, Maroteaux type | . | | | 214 | | |
HP:0002652 | HP:0002657 | Spondylometaphyseal dysplasia | 1 | TRPV4 CL E G H | 59341 | 18083 | OMIM:184252 | Spondylometaphyseal dysplasia, Kozlowski type | . | | | 214 | | |
HP:0002652 | HP:0100255 | Metaphyseal dysplasia | 1 | UFSP2 CL E G H | 55325 | 25640 | OMIM:617974 | Spondyloepimetaphyseal dysplasia, DI Rocco type | . | | | 2 | | |
HP:0002652 | HP:0005716 | Lethal skeletal dysplasia | 1 | WDR35 CL E G H | 57539 | 29250 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040281 - Very frequent | | | 136 | | |
HP:0002652 | HP:0002656 | Epiphyseal dysplasia | 1 | XYLT1 CL E G H | 64131 | 15516 | OMIM:615777 | Desbuquois dysplasia 2 | | | | 14 | | |
HP:0002652 | HP:0005871 | Metaphyseal chondrodysplasia | 2 | AIFM1 CL E G H | 9131 | 8768 | ORPHA:83629 | Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome | HP:0040281 - Very frequent | | | 60 | | |
HP:0002652 | HP:0005871 | Metaphyseal chondrodysplasia | 2 | ALG3 CL E G H | 10195 | 23056 | ORPHA:79321 | ALG3-CDG | HP:0040284 - Very rare | | | 37 | | |
HP:0002652 | HP:0005871 | Metaphyseal chondrodysplasia | 2 | COL10A1 CL E G H | 1300 | 2185 | OMIM:156500 | Metaphyseal chondrodysplasia, Schmid type | . | | | 79 | | |
HP:0002652 | HP:0005871 | Metaphyseal chondrodysplasia | 2 | CWC27 CL E G H | 10283 | 10664 | ORPHA:166035 | Brachydactyly-short stature-retinitis pigmentosa syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0002652 | HP:0005871 | Metaphyseal chondrodysplasia | 2 | CWC27 CL E G H | 10283 | 10664 | OMIM:250410 | Retinitis pigmentosa with or without skeletal anomalies | . | | | 4 | | |
HP:0002652 | HP:0005871 | Metaphyseal chondrodysplasia | 2 | DNAJC21 CL E G H | 134218 | 27030 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0002652 | HP:0005871 | Metaphyseal chondrodysplasia | 2 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | 5 | | |
HP:0002652 | HP:0005871 | Metaphyseal chondrodysplasia | 2 | EFL1 CL E G H | 79631 | 25789 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0002652 | HP:0005871 | Metaphyseal chondrodysplasia | 2 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:85165 | Severe achondroplasia-developmental delay-acanthosis nigricans syndrome | HP:0040281 - Very frequent | | | 145 | | |
HP:0002652 | HP:0005871 | Metaphyseal chondrodysplasia | 2 | GPX4 CL E G H | 2879 | 4556 | ORPHA:93317 | Spondylometaphyseal dysplasia, Sedaghatian type | HP:0040281 - Very frequent | | | 3 | | |
HP:0002652 | HP:0005871 | Metaphyseal chondrodysplasia | 2 | HDAC6 CL E G H | 10013 | 14064 | ORPHA:163966 | X-linked dominant chondrodysplasia, Chassaing-Lacombe type | HP:0040281 - Very frequent | | | 2 | | |
HP:0002652 | HP:0005871 | Metaphyseal chondrodysplasia | 2 | MMP13 CL E G H | 4322 | 7159 | OMIM:250400 | Metaphyseal chondrodysplasia, Spahr type | . | | | 52 | | |
HP:0002652 | HP:0005871 | Metaphyseal chondrodysplasia | 2 | MMP13 CL E G H | 4322 | 7159 | ORPHA:2501 | Metaphyseal chondrodysplasia, Spahr type | HP:0040281 - Very frequent | | | 52 | | |
HP:0002652 | HP:0005871 | Metaphyseal chondrodysplasia | 2 | PTH1R CL E G H | 5745 | 9608 | OMIM:156400 | Metaphyseal chondrodysplasia, Jansen type | . | | | 58 | | |
HP:0002652 | HP:0005871 | Metaphyseal chondrodysplasia | 2 | RMRP CL E G H | 6023 | 10031 | ORPHA:175 | Cartilage-hair hypoplasia | HP:0040281 - Very frequent | | | 37 | | |
HP:0002652 | HP:0005871 | Metaphyseal chondrodysplasia | 2 | SBDS CL E G H | 51119 | 19440 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040283 - Occasional | | | 26 | | |
HP:0002652 | HP:0005871 | Metaphyseal chondrodysplasia | 2 | SBDS CL E G H | 51119 | 19440 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | 26 | | |
HP:0002652 | HP:0005871 | Metaphyseal chondrodysplasia | 2 | SRP54 CL E G H | 6729 | 11301 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040283 - Occasional | | | | | |
HP:0002652 | HP:0005871 | Metaphyseal chondrodysplasia | 2 | SRP54 CL E G H | 6729 | 11301 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | | | |