| Metadata | |
|---|---|
| ID | DOID:0110853 |
| Name | rhizomelic chondrodysplasia punctata type 3 |
| Definition | A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the AGPS gene on chromosome 2q31.2. https://www.ncbi.nlm.nih.gov/pubmed/22871920 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Agps Deficiency [EXACT] Alkyldihydroxyacetonephosphate Synthase Deficiency [EXACT] Alkylglycerone-Phosphate Synthase Deficiency [EXACT] Rcdp3 [EXACT] |
| Parent Relationships |