OBO ID: DOID:0050640
Term Name: anauxetic dysplasia 1 Search Ontology:
Synonyms:
  • spondylometaepiphyseal dysplasia, Menger type
Definition: An anauxetic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13. (2)
References:
Ontology: Human Disease   (DOID:0050640)
OTHER anauxetic dysplasia 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RMRP Anauxetic dysplasia 1 607095
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None