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

• ICD10CM:Q77.3
• MESH:C537607
• OMIM:222765
• ORDO:309796

Ontology

Human Disease   ( DOID:0110852 )