OBO ID: DOID:14773
Term Name: cartilage-hair hypoplasia Search Ontology:
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 RMRP on chromosome 9p13.3. (2)
References:
Ontology: Human Disease   (DOID:14773)
OTHER cartilage-hair hypoplasia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RMRP Cartilage-hair hypoplasia 250250
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None