Human Phenotype Ontology 
Grandparent Node:
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Abnormal metaphysis morphology (HP:0000944)help
Grandparent Node:
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Skeletal dysplasia (HP:0002652)help
Parent Node:
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Metaphyseal dysplasia (HP:0100255)help
..Starting node
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Metaphyseal chondrodysplasia (HP:0005871)help
Term ID: 5871
Name: Metaphyseal chondrodysplasia
Synonym:
Definition: An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae.
Comments:
Reference: HP:0005871
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005871HP:0005871Metaphyseal chondrodysplasia0AIFM1 CL E G H91318768ORPHA:83629Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndromeHP:0040281 - Very frequent60
HP:0005871HP:0005871Metaphyseal chondrodysplasia0ALG3 CL E G H1019523056ORPHA:79321ALG3-CDGHP:0040284 - Very rare37
HP:0005871HP:0005871Metaphyseal chondrodysplasia0COL10A1 CL E G H13002185OMIM:156500Metaphyseal chondrodysplasia, Schmid type.79
HP:0005871HP:0005871Metaphyseal chondrodysplasia0CWC27 CL E G H1028310664ORPHA:166035Brachydactyly-short stature-retinitis pigmentosa syndromeHP:0040283 - Occasional4
HP:0005871HP:0005871Metaphyseal chondrodysplasia0CWC27 CL E G H1028310664OMIM:250410Retinitis pigmentosa with or without skeletal anomalies.4
HP:0005871HP:0005871Metaphyseal chondrodysplasia0DNAJC21 CL E G H13421827030ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional5
HP:0005871HP:0005871Metaphyseal chondrodysplasia0DNAJC21 CL E G H13421827030OMIM:260400Shwachman-Diamond syndrome 1.5
HP:0005871HP:0005871Metaphyseal chondrodysplasia0EFL1 CL E G H7963125789ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional1
HP:0005871HP:0005871Metaphyseal chondrodysplasia0FGFR3 CL E G H22613690ORPHA:85165Severe achondroplasia-developmental delay-acanthosis nigricans syndromeHP:0040281 - Very frequent145
HP:0005871HP:0005871Metaphyseal chondrodysplasia0GPX4 CL E G H28794556ORPHA:93317Spondylometaphyseal dysplasia, Sedaghatian typeHP:0040281 - Very frequent3
HP:0005871HP:0005871Metaphyseal chondrodysplasia0HDAC6 CL E G H1001314064ORPHA:163966X-linked dominant chondrodysplasia, Chassaing-Lacombe typeHP:0040281 - Very frequent2
HP:0005871HP:0005871Metaphyseal chondrodysplasia0MMP13 CL E G H43227159OMIM:250400Metaphyseal chondrodysplasia, Spahr type.52
HP:0005871HP:0005871Metaphyseal chondrodysplasia0MMP13 CL E G H43227159ORPHA:2501Metaphyseal chondrodysplasia, Spahr typeHP:0040281 - Very frequent52
HP:0005871HP:0005871Metaphyseal chondrodysplasia0PTH1R CL E G H57459608OMIM:156400Metaphyseal chondrodysplasia, Jansen type.58
HP:0005871HP:0005871Metaphyseal chondrodysplasia0RMRP CL E G H602310031ORPHA:175Cartilage-hair hypoplasiaHP:0040281 - Very frequent37
HP:0005871HP:0005871Metaphyseal chondrodysplasia0SBDS CL E G H5111919440ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional26
HP:0005871HP:0005871Metaphyseal chondrodysplasia0SBDS CL E G H5111919440OMIM:260400Shwachman-Diamond syndrome 1.26
HP:0005871HP:0005871Metaphyseal chondrodysplasia0SRP54 CL E G H672911301ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional
HP:0005871HP:0005871Metaphyseal chondrodysplasia0SRP54 CL E G H672911301OMIM:260400Shwachman-Diamond syndrome 1.


Genes (14) :AIFM1 ALG3 COL10A1 CWC27 DNAJC21 EFL1 FGFR3 GPX4 HDAC6 MMP13 PTH1R RMRP SBDS SRP54

Diseases (14) :ORPHA:83629 ORPHA:79321 OMIM:156500 ORPHA:166035 OMIM:250410 ORPHA:811 OMIM:260400 ORPHA:85165 ORPHA:93317 ORPHA:163966 OMIM:250400 ORPHA:2501 OMIM:156400 ORPHA:175
 

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