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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/156500
http://purl.bioontology.org/ontology/OMIM/156500
|
|---|---|
| Preferred Name | METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE |
| Synonyms |
MCDS
SPONDYLOMETAPHYSEAL DYSPLASIA, JAPANESE TYPE
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MCDS
SPONDYLOMETAPHYSEAL DYSPLASIA, JAPANESE TYPE
|
|---|---|
| prefLabel | METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE
|
| Gene Symbol | COL10A1
|
| Scope Statement | Hand involvement improves with age [MISCELLANEOUS]
Caused by mutation in the collagen X, alpha-1 polypeptide gene (COL10A1, 120110.0001) [MOLECULAR BASIS]
Leg pain during childhood [MISCELLANEOUS]
Spinal involvement improves with age [MISCELLANEOUS]
Waddling gait, often presenting sign in second year [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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| tui | T047
|
| Gene Locus | 6q21-q22.3
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 156500
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0265289
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |