Search Ontology:
Human Disease
Schinzel type phocomelia
- Term ID
- DOID:0112181
- Synonyms
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- AARRS
- absence of ulna and fibula with severe limb deficiency
- Al Awadi-Raas-Rothschild syndrome
- Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome
- aplasia/hypoplasia of limbs and pelvis
- congenital absence of ulna and fibula
- limb/pelvis-hypoplasia/aplasia syndrome
- LPHAS
- Schinzel phocomelia syndrome
- severe limb deficit
- 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. (2)
- References
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- GARD:9212
- MIM:276820
- ORDO:2879
- Ontology
- Human Disease ( DOID:0112181 )
- is a type of
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Genes Involved
Zebrafish Models