| Metadata | |
|---|---|
| ID | DOID:0112181 |
| Name | Schinzel type phocomelia |
| Definition | A syndrome characterized by severe malformations of upper and lower limbs,severely hypoplastic pelvis, and abnormal genitalia that has_material_basis_in homozygous or compound heterozygous mutation in the WNT7A gene on chromosome 3p25.1. https://pubmed.ncbi.nlm.nih.gov/16826533/, https://pubmed.ncbi.nlm.nih.gov/20949531/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
AARRS [EXACT] absence of ulna and fibula with severe limb deficiency [EXACT] Al Awadi-Raas-Rothschild syndrome [EXACT] Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome [EXACT] aplasia/hypoplasia of limbs and pelvis [EXACT] congenital absence of ulna and fibula [EXACT] limb/pelvis-hypoplasia/aplasia syndrome [EXACT] LPHAS [EXACT] Schinzel phocomelia syndrome [EXACT] severe limb deficit [EXACT] |
| Parent Relationships |
is_a syndrome |