Human Phenotype Ontology 
Grandparent Node:
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Abnormal skeletal morphology (HP:0011842)help
Parent Node:
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Abnormal metaphysis morphology (HP:0000944)help
Parent Node:
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Skeletal dysplasia (HP:0002652)help
..Starting node
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Metaphyseal dysplasia (HP:0100255)help
Term ID: 100255
Name: Metaphyseal dysplasia
Synonym:
Definition: The presence of dysplastic regions in metaphyseal regions.
Comments:
Reference: HP:0100255
Genes and Diseases:
 
       Child Nodes:
........expandMetaphyseal chondrodysplasia (HP:0005871) help

 Sister Nodes: 
..expandDiaphyseal dysplasia (HP:0100252) help
..expandEpiphyseal dysplasia (HP:0002656) help
..expandLethal skeletal dysplasia (HP:0005716) help
..expandMultiple epiphyseal dysplasia (HP:0002654) help
..expandMultiple skeletal anomalies (HP:0005775) help
..expandSpondyloepimetaphyseal dysplasia (HP:0002651) help
..expandSpondyloepiphyseal dysplasia (HP:0002655) help
..expandSpondylometaphyseal dysplasia (HP:0002657) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100255HP:0100255Metaphyseal dysplasia0ACP5 CL E G H54124ORPHA:1855SpondyloenchondrodysplasiaHP:0040281 - Very frequent16
HP:0100255HP:0100255Metaphyseal dysplasia0ACP5 CL E G H54124OMIM:607944Spondyloenchondrodysplasia with immune dysregulation16
HP:0100255HP:0100255Metaphyseal dysplasia0AIFM1 CL E G H91318768ORPHA:83629Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome60
HP:0100255HP:0100255Metaphyseal dysplasia0ALG3 CL E G H1019523056ORPHA:79321ALG3-CDG37
HP:0100255HP:0100255Metaphyseal dysplasia0CDKN1C CL E G H10281786ORPHA:85173IMAGe syndromeHP:0040281 - Very frequent114
HP:0100255HP:0100255Metaphyseal dysplasia0CDKN1C CL E G H10281786OMIM:614732Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies.114
HP:0100255HP:0100255Metaphyseal dysplasia0COL10A1 CL E G H13002185OMIM:156500Metaphyseal chondrodysplasia, Schmid type79
HP:0100255HP:0100255Metaphyseal dysplasia0COL2A1 CL E G H12802200ORPHA:93316Spondylometaphyseal dysplasia, Schmidt typeHP:0040281 - Very frequent284
HP:0100255HP:0100255Metaphyseal dysplasia0CWC27 CL E G H1028310664ORPHA:166035Brachydactyly-short stature-retinitis pigmentosa syndrome4
HP:0100255HP:0100255Metaphyseal dysplasia0CWC27 CL E G H1028310664OMIM:250410Retinitis pigmentosa with or without skeletal anomalies.4
HP:0100255HP:0100255Metaphyseal dysplasia0DNAJC21 CL E G H13421827030OMIM:617052Bone marrow failure syndrome 3HP:0040284 - Very rare5
HP:0100255HP:0100255Metaphyseal dysplasia0DNAJC21 CL E G H13421827030ORPHA:811Shwachman-Diamond syndrome5
HP:0100255HP:0100255Metaphyseal dysplasia0DNAJC21 CL E G H13421827030OMIM:260400Shwachman-Diamond syndrome 15
HP:0100255HP:0100255Metaphyseal dysplasia0DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen diseaseHP:0040282 - Frequent65
HP:0100255HP:0100255Metaphyseal dysplasia0EFL1 CL E G H7963125789ORPHA:811Shwachman-Diamond syndrome1
HP:0100255HP:0100255Metaphyseal dysplasia0EIF2AK3 CL E G H94513255ORPHA:1667Wolcott-Rallison syndromeHP:0040282 - Frequent65
HP:0100255HP:0100255Metaphyseal dysplasia0EXTL3 CL E G H21373518OMIM:617425Immunoskeletal dysplasia with neurodevelopmental abnormalities.3
HP:0100255HP:0100255Metaphyseal dysplasia0FGFR3 CL E G H22613690ORPHA:85165Severe achondroplasia-developmental delay-acanthosis nigricans syndrome145
HP:0100255HP:0100255Metaphyseal dysplasia0GJA1 CL E G H26974274OMIM:218400Craniometaphyseal dysplasia, autosomal recessive.68
HP:0100255HP:0100255Metaphyseal dysplasia0GPX4 CL E G H28794556ORPHA:93317Spondylometaphyseal dysplasia, Sedaghatian type3
HP:0100255HP:0100255Metaphyseal dysplasia0HDAC6 CL E G H1001314064ORPHA:163966X-linked dominant chondrodysplasia, Chassaing-Lacombe type2
HP:0100255HP:0100255Metaphyseal dysplasia0IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0100255HP:0100255Metaphyseal dysplasia0LBR CL E G H39306518OMIM:618019PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK70
HP:0100255HP:0100255Metaphyseal dysplasia0LONP1 CL E G H93619479OMIM:600373CODAS syndrome8
HP:0100255HP:0100255Metaphyseal dysplasia0LRRK1 CL E G H7970518608OMIM:615198Osteosclerotic metaphyseal dysplasia.1
HP:0100255HP:0100255Metaphyseal dysplasia0MMP13 CL E G H43227159ORPHA:2501Metaphyseal chondrodysplasia, Spahr typeHP:0040281 - Very frequent52
HP:0100255HP:0100255Metaphyseal dysplasia0MMP13 CL E G H43227159OMIM:250400Metaphyseal chondrodysplasia, Spahr type.52
HP:0100255HP:0100255Metaphyseal dysplasia0NKX3-2 CL E G H579951OMIM:613330Spondylo-Megaepiphyseal-Metaphyseal dysplasia.10
HP:0100255HP:0100255Metaphyseal dysplasia0PIK3C2A CL E G H52868971ORPHA:557003Oculocerebrodental syndromeHP:0040283 - Occasional
HP:0100255HP:0100255Metaphyseal dysplasia0POLE CL E G H54269177ORPHA:85173IMAGe syndromeHP:0040281 - Very frequent1129
HP:0100255HP:0100255Metaphyseal dysplasia0POLE CL E G H54269177OMIM:618336Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency.1129
HP:0100255HP:0100255Metaphyseal dysplasia0POP1 CL E G H1094030129OMIM:617396Anauxetic dysplasia 2.6
HP:0100255HP:0100255Metaphyseal dysplasia0PTH1R CL E G H57459608OMIM:156400Metaphyseal chondrodysplasia, Jansen type58
HP:0100255HP:0100255Metaphyseal dysplasia0RMRP CL E G H602310031OMIM:250250Cartilage-Hair hypoplasia.37
HP:0100255HP:0100255Metaphyseal dysplasia0RMRP CL E G H602310031ORPHA:175Cartilage-hair hypoplasiaHP:0040281 - Very frequent37
HP:0100255HP:0100255Metaphyseal dysplasia0RMRP CL E G H602310031OMIM:250460Metaphyseal dysplasia without hypotrichosis.37
HP:0100255HP:0100255Metaphyseal dysplasia0RUNX2 CL E G H86010472OMIM:156510Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly.90
HP:0100255HP:0100255Metaphyseal dysplasia0SBDS CL E G H5111919440ORPHA:811Shwachman-Diamond syndrome26
HP:0100255HP:0100255Metaphyseal dysplasia0SBDS CL E G H5111919440OMIM:260400Shwachman-Diamond syndrome 126
HP:0100255HP:0100255Metaphyseal dysplasia0SFRP4 CL E G H642410778OMIM:265900Pyle disease.3
HP:0100255HP:0100255Metaphyseal dysplasia0SRP54 CL E G H672911301ORPHA:811Shwachman-Diamond syndrome
HP:0100255HP:0100255Metaphyseal dysplasia0SRP54 CL E G H672911301OMIM:260400Shwachman-Diamond syndrome 1
HP:0100255HP:0100255Metaphyseal dysplasia0TGFB1 CL E G H704011766ORPHA:1328Camurati-Engelmann diseaseHP:0040282 - Frequent13
HP:0100255HP:0100255Metaphyseal dysplasia0TMEM165 CL E G H5585830760OMIM:614727Congenital disorder of glycosylation, type IIK.24
HP:0100255HP:0100255Metaphyseal dysplasia0TMEM53 CL E G H7963926186OMIM:619727CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0100255HP:0100255Metaphyseal dysplasia0UFSP2 CL E G H5532525640OMIM:617974Spondyloepimetaphyseal dysplasia, DI Rocco type.2
HP:0100255HP:0005871Metaphyseal chondrodysplasia1AIFM1 CL E G H91318768ORPHA:83629Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndromeHP:0040281 - Very frequent60
HP:0100255HP:0005871Metaphyseal chondrodysplasia1ALG3 CL E G H1019523056ORPHA:79321ALG3-CDGHP:0040284 - Very rare37
HP:0100255HP:0005871Metaphyseal chondrodysplasia1COL10A1 CL E G H13002185OMIM:156500Metaphyseal chondrodysplasia, Schmid type.79
HP:0100255HP:0005871Metaphyseal chondrodysplasia1CWC27 CL E G H1028310664ORPHA:166035Brachydactyly-short stature-retinitis pigmentosa syndromeHP:0040283 - Occasional4
HP:0100255HP:0005871Metaphyseal chondrodysplasia1CWC27 CL E G H1028310664OMIM:250410Retinitis pigmentosa with or without skeletal anomalies.4
HP:0100255HP:0005871Metaphyseal chondrodysplasia1DNAJC21 CL E G H13421827030ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional5
HP:0100255HP:0005871Metaphyseal chondrodysplasia1DNAJC21 CL E G H13421827030OMIM:260400Shwachman-Diamond syndrome 1.5
HP:0100255HP:0005871Metaphyseal chondrodysplasia1EFL1 CL E G H7963125789ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional1
HP:0100255HP:0005871Metaphyseal chondrodysplasia1FGFR3 CL E G H22613690ORPHA:85165Severe achondroplasia-developmental delay-acanthosis nigricans syndromeHP:0040281 - Very frequent145
HP:0100255HP:0005871Metaphyseal chondrodysplasia1GPX4 CL E G H28794556ORPHA:93317Spondylometaphyseal dysplasia, Sedaghatian typeHP:0040281 - Very frequent3
HP:0100255HP:0005871Metaphyseal chondrodysplasia1HDAC6 CL E G H1001314064ORPHA:163966X-linked dominant chondrodysplasia, Chassaing-Lacombe typeHP:0040281 - Very frequent2
HP:0100255HP:0005871Metaphyseal chondrodysplasia1MMP13 CL E G H43227159OMIM:250400Metaphyseal chondrodysplasia, Spahr type.52
HP:0100255HP:0005871Metaphyseal chondrodysplasia1MMP13 CL E G H43227159ORPHA:2501Metaphyseal chondrodysplasia, Spahr typeHP:0040281 - Very frequent52
HP:0100255HP:0005871Metaphyseal chondrodysplasia1PTH1R CL E G H57459608OMIM:156400Metaphyseal chondrodysplasia, Jansen type.58
HP:0100255HP:0005871Metaphyseal chondrodysplasia1RMRP CL E G H602310031ORPHA:175Cartilage-hair hypoplasiaHP:0040281 - Very frequent37
HP:0100255HP:0005871Metaphyseal chondrodysplasia1SBDS CL E G H5111919440ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional26
HP:0100255HP:0005871Metaphyseal chondrodysplasia1SBDS CL E G H5111919440OMIM:260400Shwachman-Diamond syndrome 1.26
HP:0100255HP:0005871Metaphyseal chondrodysplasia1SRP54 CL E G H672911301ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional
HP:0100255HP:0005871Metaphyseal chondrodysplasia1SRP54 CL E G H672911301OMIM:260400Shwachman-Diamond syndrome 1.


Genes (35) :ACP5 AIFM1 ALG3 CDKN1C COL10A1 COL2A1 CWC27 DNAJC21 DYM EFL1 EIF2AK3 EXTL3 FGFR3 GJA1 GPX4 HDAC6 IDH1 LBR LONP1 LRRK1 MMP13 NKX3-2 PIK3C2A POLE POP1 PTH1R RMRP RUNX2 SBDS SFRP4 SRP54 TGFB1 TMEM165 TMEM53 UFSP2

Diseases (40) :ORPHA:1855 OMIM:607944 ORPHA:83629 ORPHA:79321 ORPHA:85173 OMIM:614732 OMIM:156500 ORPHA:93316 ORPHA:166035 OMIM:250410 OMIM:617052 ORPHA:811 OMIM:260400 ORPHA:239 ORPHA:1667 OMIM:617425 ORPHA:85165 OMIM:218400 ORPHA:93317 ORPHA:163966 ORPHA:99646 OMIM:618019 OMIM:600373 OMIM:615198 ORPHA:2501 OMIM:250400 OMIM:613330 ORPHA:557003 OMIM:618336 OMIM:617396 OMIM:156400 OMIM:250250 ORPHA:175 OMIM:250460 OMIM:156510 OMIM:265900 ORPHA:1328 OMIM:614727 OMIM:619727 OMIM:617974
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.