Term Name: cartilage-hair hypoplasia
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 )

Relationships
is a type of: autosomal recessive disease ectodermal dysplasia