Visualize Submit Comment
Metadata
ID DOID:0110852
Name rhizomelic chondrodysplasia punctata type 2
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
Xrefs

ICD10CM:Q77.3

OMIM:222765

ORDO:309796

Synonyms

Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency [EXACT]

Dhapat Deficiency [EXACT]

Dihydroxyacetonephosphate Acyltransferase Deficiency [EXACT]

Glyceronephosphate O-Acyltransferase Deficiency [EXACT]

Gnpat Deficiency [EXACT]

Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency [EXACT]

Rcdp2 [EXACT]

Parent Relationships

is_a rhizomelic chondrodysplasia punctata

Add an item to the term tracker