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 the RMRP gene on chromosome 9p13.3. (2)
References:
  • MESH:C535916
  • MIM:250250
  • NCI:C61245
  • SNOMEDCT_US_2023_03_01:234421004
  • UMLS_CUI:C0220748
Ontology: Human Disease   ( DOID:14773 )
Relationships
is a type of:
OTHER cartilage-hair hypoplasia PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS
Fish Conditions Citations
rmrpzf3563/zf3563 standard conditions Sun et al., 2019
PHENOTYPE No data available

CITATIONS (1)
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