Human genes for cartilage-hair hypoplasia
Cartilage-hair hypoplasia [DOID:14773]
An ectodermal dysplasia characterized by short-limbed short stature and fine, sparse hair that has_material_basis_in homozygous or compound heterozygous mutation in RMRP on chromosome 9p13.3.
Synonyms: cartilage-hair hypoplasia, cartilagehair hypoplasia, cartilage-hair hypoplasias, DOID:14773, CHH ...
Linkouts: OMIM