OBO ID: DOID:0110852
Term Name: rhizomelic chondrodysplasia punctata type 2 Search Ontology:
Synonyms:
  • Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency
  • Dhapat Deficiency
  • Dihydroxyacetonephosphate Acyltransferase Deficiency
  • Glyceronephosphate O-Acyltransferase Deficiency
  • Gnpat Deficiency
  • Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency
  • Rcdp2
Definition: A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the GNPAT gene on chromosome 1q42.2. https://www.ncbi.nlm.nih.gov/pubmed/1405476
References:
Ontology: Human Disease   ( DOID:0110852 )
OTHER rhizomelic chondrodysplasia punctata type 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GNPAT Rhizomelic chondrodysplasia punctata, type 2 222765
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None