Search Ontology:
Human Disease

rhizomelic chondrodysplasia punctata type 2

Term ID
DOID:0110852
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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