| 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 | |
| Subsets |
DO_rare_slim |
| 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 |