DISEASES

Disease-gene associations mined from literature

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