Schinzel Type Phocomelia
Disease ID: disease_node_20232
Connections displayed (default: 10).
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| Dbxref | GARD:9212, MIM:276820, ORDO:2879 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID |
| Synonyms | AARRS, Al Awadi-Raas-Rothschild syndrome, Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome, LPHAS, Schinzel phocomelia syndrome, absence of ulna and fibula with severe limb deficiency, aplasia/hypoplasia of limbs and pelvis, congenital absence of ulna and fibula, limb/pelvis-hypoplasia/aplasia syndrome, severe limb deficit |
| Doid Label | Schinzel type phocomelia |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20232 |
| Doid Id | DOID_0112181 |
| Label | Schinzel Type Phocomelia |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)