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cartilage-hair hypoplasia
Summary
- Synonym
-
- CHH
- McKusick type metaphyseal chondrodysplasia
- Metaphyseal chondrodysplasia, McKusick type
- Definition
- An ectodermal dysplasia characterized by short-limbed short stature and fine, sparse hair that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13.3.
- Super Class
- autosomal recessive disease ectodermal dysplasia
External Links
- Disease Ontology
- DOID:14773
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60243 | Heparan-sulfate 6-O-sulfotransferase 1 | |
| P04040 | Catalase | |
| Q15125 | 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase | |
| Q86Z14 | Beta-klotho |
