Term Name: | cartilage-hair hypoplasia |
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Synonyms: | 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. |
Ontology: | Human Disease [DOID:14773] ( DOID:14773 ) |