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Disease Ontology Browser
cartilage-hair hypoplasia (DOID:14773)
Alliance: disease page
Synonyms: CHH; McKusick type metaphyseal chondrodysplasia; Metaphyseal chondrodysplasia, McKusick type
Alt IDs: OMIM:250250, MESH:C535916, NCI:C61245, UMLS_CUI:C0220748
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory