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:0100255 | HP:0100255 | Metaphyseal dysplasia | 0 | ACP5 CL E G H | 54 | 124 | ORPHA:1855 | Spondyloenchondrodysplasia | HP:0040281 - Very frequent | | | 16 | | |
HP:0100255 | HP:0100255 | Metaphyseal dysplasia | 0 | ACP5 CL E G H | 54 | 124 | OMIM:607944 | Spondyloenchondrodysplasia with immune dysregulation | | | | 16 | | |
HP:0100255 | HP:0100255 | Metaphyseal dysplasia | 0 | AIFM1 CL E G H | 9131 | 8768 | ORPHA:83629 | Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome | | | | 60 | | |
HP:0100255 | HP:0100255 | Metaphyseal dysplasia | 0 | ALG3 CL E G H | 10195 | 23056 | ORPHA:79321 | ALG3-CDG | | | | 37 | | |
HP:0100255 | HP:0100255 | Metaphyseal dysplasia | 0 | CDKN1C CL E G H | 1028 | 1786 | ORPHA:85173 | IMAGe syndrome | HP:0040281 - Very frequent | | | 114 | | |
HP:0100255 | HP:0100255 | Metaphyseal dysplasia | 0 | CDKN1C CL E G H | 1028 | 1786 | OMIM:614732 | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies | . | | | 114 | | |
HP:0100255 | HP:0100255 | Metaphyseal dysplasia | 0 | COL10A1 CL E G H | 1300 | 2185 | OMIM:156500 | Metaphyseal chondrodysplasia, Schmid type | | | | 79 | | |
HP:0100255 | HP:0100255 | Metaphyseal dysplasia | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93316 | Spondylometaphyseal dysplasia, Schmidt type | HP:0040281 - Very frequent | | | 284 | | |
HP:0100255 | HP:0100255 | Metaphyseal dysplasia | 0 | CWC27 CL E G H | 10283 | 10664 | ORPHA:166035 | Brachydactyly-short stature-retinitis pigmentosa syndrome | | | | 4 | | |
HP:0100255 | HP:0100255 | Metaphyseal dysplasia | 0 | CWC27 CL E G H | 10283 | 10664 | OMIM:250410 | Retinitis pigmentosa with or without skeletal anomalies | . | | | 4 | | |
HP:0100255 | HP:0100255 | Metaphyseal dysplasia | 0 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:617052 | Bone marrow failure syndrome 3 | HP:0040284 - Very rare | | | 5 | | |
HP:0100255 | HP:0100255 | Metaphyseal dysplasia | 0 | DNAJC21 CL E G H | 134218 | 27030 | ORPHA:811 | Shwachman-Diamond syndrome | | | | 5 | | |
HP:0100255 | HP:0100255 | Metaphyseal dysplasia | 0 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:260400 | Shwachman-Diamond syndrome 1 | | | | 5 | | |
HP:0100255 | HP:0100255 | Metaphyseal dysplasia | 0 | DYM CL E G H | 54808 | 21317 | ORPHA:239 | Dyggve-Melchior-Clausen disease | HP:0040282 - Frequent | | | 65 | | |
HP:0100255 | HP:0100255 | Metaphyseal dysplasia | 0 | EFL1 CL E G H | 79631 | 25789 | ORPHA:811 | Shwachman-Diamond syndrome | | | | 1 | | |
HP:0100255 | HP:0100255 | Metaphyseal dysplasia | 0 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | HP:0040282 - Frequent | | | 65 | | |
HP:0100255 | HP:0100255 | Metaphyseal dysplasia | 0 | EXTL3 CL E G H | 2137 | 3518 | OMIM:617425 | Immunoskeletal dysplasia with neurodevelopmental abnormalities | . | | | 3 | | |
HP:0100255 | HP:0100255 | Metaphyseal dysplasia | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:85165 | Severe achondroplasia-developmental delay-acanthosis nigricans syndrome | | | | 145 | | |
HP:0100255 | HP:0100255 | Metaphyseal dysplasia | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:218400 | Craniometaphyseal dysplasia, autosomal recessive | . | | | 68 | | |
HP:0100255 | HP:0100255 | Metaphyseal dysplasia | 0 | GPX4 CL E G H | 2879 | 4556 | ORPHA:93317 | Spondylometaphyseal dysplasia, Sedaghatian type | | | | 3 | | |
HP:0100255 | HP:0100255 | Metaphyseal dysplasia | 0 | HDAC6 CL E G H | 10013 | 14064 | ORPHA:163966 | X-linked dominant chondrodysplasia, Chassaing-Lacombe type | | | | 2 | | |
HP:0100255 | HP:0100255 | Metaphyseal dysplasia | 0 | IDH1 CL E G H | 3417 | 5382 | ORPHA:99646 | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | | | | 15 | | |
HP:0100255 | HP:0100255 | Metaphyseal dysplasia | 0 | LBR CL E G H | 3930 | 6518 | OMIM:618019 | PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK | | | | 70 | | |
HP:0100255 | HP:0100255 | Metaphyseal dysplasia | 0 | LONP1 CL E G H | 9361 | 9479 | OMIM:600373 | CODAS syndrome | | | | 8 | | |
HP:0100255 | HP:0100255 | Metaphyseal dysplasia | 0 | LRRK1 CL E G H | 79705 | 18608 | OMIM:615198 | Osteosclerotic metaphyseal dysplasia | . | | | 1 | | |
HP:0100255 | HP:0100255 | Metaphyseal dysplasia | 0 | MMP13 CL E G H | 4322 | 7159 | ORPHA:2501 | Metaphyseal chondrodysplasia, Spahr type | HP:0040281 - Very frequent | | | 52 | | |
HP:0100255 | HP:0100255 | Metaphyseal dysplasia | 0 | MMP13 CL E G H | 4322 | 7159 | OMIM:250400 | Metaphyseal chondrodysplasia, Spahr type | . | | | 52 | | |
HP:0100255 | HP:0100255 | Metaphyseal dysplasia | 0 | NKX3-2 CL E G H | 579 | 951 | OMIM:613330 | Spondylo-Megaepiphyseal-Metaphyseal dysplasia | . | | | 10 | | |
HP:0100255 | HP:0100255 | Metaphyseal dysplasia | 0 | PIK3C2A CL E G H | 5286 | 8971 | ORPHA:557003 | Oculocerebrodental syndrome | HP:0040283 - Occasional | | | | | |
HP:0100255 | HP:0100255 | Metaphyseal dysplasia | 0 | POLE CL E G H | 5426 | 9177 | ORPHA:85173 | IMAGe syndrome | HP:0040281 - Very frequent | | | 1129 | | |
HP:0100255 | HP:0100255 | Metaphyseal 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:0100255 | HP:0100255 | Metaphyseal dysplasia | 0 | POP1 CL E G H | 10940 | 30129 | OMIM:617396 | Anauxetic dysplasia 2 | . | | | 6 | | |
HP:0100255 | HP:0100255 | Metaphyseal dysplasia | 0 | PTH1R CL E G H | 5745 | 9608 | OMIM:156400 | Metaphyseal chondrodysplasia, Jansen type | | | | 58 | | |
HP:0100255 | HP:0100255 | Metaphyseal dysplasia | 0 | RMRP CL E G H | 6023 | 10031 | OMIM:250250 | Cartilage-Hair hypoplasia | . | | | 37 | | |
HP:0100255 | HP:0100255 | Metaphyseal dysplasia | 0 | RMRP CL E G H | 6023 | 10031 | ORPHA:175 | Cartilage-hair hypoplasia | HP:0040281 - Very frequent | | | 37 | | |
HP:0100255 | HP:0100255 | Metaphyseal dysplasia | 0 | RMRP CL E G H | 6023 | 10031 | OMIM:250460 | Metaphyseal dysplasia without hypotrichosis | . | | | 37 | | |
HP:0100255 | HP:0100255 | Metaphyseal dysplasia | 0 | RUNX2 CL E G H | 860 | 10472 | OMIM:156510 | Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly | . | | | 90 | | |
HP:0100255 | HP:0100255 | Metaphyseal dysplasia | 0 | SBDS CL E G H | 51119 | 19440 | ORPHA:811 | Shwachman-Diamond syndrome | | | | 26 | | |
HP:0100255 | HP:0100255 | Metaphyseal dysplasia | 0 | SBDS CL E G H | 51119 | 19440 | OMIM:260400 | Shwachman-Diamond syndrome 1 | | | | 26 | | |
HP:0100255 | HP:0100255 | Metaphyseal dysplasia | 0 | SFRP4 CL E G H | 6424 | 10778 | OMIM:265900 | Pyle disease | . | | | 3 | | |
HP:0100255 | HP:0100255 | Metaphyseal dysplasia | 0 | SRP54 CL E G H | 6729 | 11301 | ORPHA:811 | Shwachman-Diamond syndrome | | | | | | |
HP:0100255 | HP:0100255 | Metaphyseal dysplasia | 0 | SRP54 CL E G H | 6729 | 11301 | OMIM:260400 | Shwachman-Diamond syndrome 1 | | | | | | |
HP:0100255 | HP:0100255 | Metaphyseal dysplasia | 0 | TGFB1 CL E G H | 7040 | 11766 | ORPHA:1328 | Camurati-Engelmann disease | HP:0040282 - Frequent | | | 13 | | |
HP:0100255 | HP:0100255 | Metaphyseal dysplasia | 0 | TMEM165 CL E G H | 55858 | 30760 | OMIM:614727 | Congenital disorder of glycosylation, type IIK | . | | | 24 | | |
HP:0100255 | HP:0100255 | Metaphyseal dysplasia | 0 | TMEM53 CL E G H | 79639 | 26186 | OMIM:619727 | CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI | | | | | | |
HP:0100255 | HP:0100255 | Metaphyseal dysplasia | 0 | UFSP2 CL E G H | 55325 | 25640 | OMIM:617974 | Spondyloepimetaphyseal dysplasia, DI Rocco type | . | | | 2 | | |
HP:0100255 | HP:0005871 | Metaphyseal chondrodysplasia | 1 | AIFM1 CL E G H | 9131 | 8768 | ORPHA:83629 | Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome | HP:0040281 - Very frequent | | | 60 | | |
HP:0100255 | HP:0005871 | Metaphyseal chondrodysplasia | 1 | ALG3 CL E G H | 10195 | 23056 | ORPHA:79321 | ALG3-CDG | HP:0040284 - Very rare | | | 37 | | |
HP:0100255 | HP:0005871 | Metaphyseal chondrodysplasia | 1 | COL10A1 CL E G H | 1300 | 2185 | OMIM:156500 | Metaphyseal chondrodysplasia, Schmid type | . | | | 79 | | |
HP:0100255 | HP:0005871 | Metaphyseal chondrodysplasia | 1 | CWC27 CL E G H | 10283 | 10664 | ORPHA:166035 | Brachydactyly-short stature-retinitis pigmentosa syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0100255 | HP:0005871 | Metaphyseal chondrodysplasia | 1 | CWC27 CL E G H | 10283 | 10664 | OMIM:250410 | Retinitis pigmentosa with or without skeletal anomalies | . | | | 4 | | |
HP:0100255 | HP:0005871 | Metaphyseal chondrodysplasia | 1 | DNAJC21 CL E G H | 134218 | 27030 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0100255 | HP:0005871 | Metaphyseal chondrodysplasia | 1 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | 5 | | |
HP:0100255 | HP:0005871 | Metaphyseal chondrodysplasia | 1 | EFL1 CL E G H | 79631 | 25789 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0100255 | HP:0005871 | Metaphyseal chondrodysplasia | 1 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:85165 | Severe achondroplasia-developmental delay-acanthosis nigricans syndrome | HP:0040281 - Very frequent | | | 145 | | |
HP:0100255 | HP:0005871 | Metaphyseal chondrodysplasia | 1 | GPX4 CL E G H | 2879 | 4556 | ORPHA:93317 | Spondylometaphyseal dysplasia, Sedaghatian type | HP:0040281 - Very frequent | | | 3 | | |
HP:0100255 | HP:0005871 | Metaphyseal chondrodysplasia | 1 | HDAC6 CL E G H | 10013 | 14064 | ORPHA:163966 | X-linked dominant chondrodysplasia, Chassaing-Lacombe type | HP:0040281 - Very frequent | | | 2 | | |
HP:0100255 | HP:0005871 | Metaphyseal chondrodysplasia | 1 | MMP13 CL E G H | 4322 | 7159 | OMIM:250400 | Metaphyseal chondrodysplasia, Spahr type | . | | | 52 | | |
HP:0100255 | HP:0005871 | Metaphyseal chondrodysplasia | 1 | MMP13 CL E G H | 4322 | 7159 | ORPHA:2501 | Metaphyseal chondrodysplasia, Spahr type | HP:0040281 - Very frequent | | | 52 | | |
HP:0100255 | HP:0005871 | Metaphyseal chondrodysplasia | 1 | PTH1R CL E G H | 5745 | 9608 | OMIM:156400 | Metaphyseal chondrodysplasia, Jansen type | . | | | 58 | | |
HP:0100255 | HP:0005871 | Metaphyseal chondrodysplasia | 1 | RMRP CL E G H | 6023 | 10031 | ORPHA:175 | Cartilage-hair hypoplasia | HP:0040281 - Very frequent | | | 37 | | |
HP:0100255 | HP:0005871 | Metaphyseal chondrodysplasia | 1 | SBDS CL E G H | 51119 | 19440 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040283 - Occasional | | | 26 | | |
HP:0100255 | HP:0005871 | Metaphyseal chondrodysplasia | 1 | SBDS CL E G H | 51119 | 19440 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | 26 | | |
HP:0100255 | HP:0005871 | Metaphyseal chondrodysplasia | 1 | SRP54 CL E G H | 6729 | 11301 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040283 - Occasional | | | | | |
HP:0100255 | HP:0005871 | Metaphyseal chondrodysplasia | 1 | SRP54 CL E G H | 6729 | 11301 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | | | |