Search Ontology:
Human Disease

Schinzel type phocomelia

Term ID
DOID:0112181
Synonyms
  • 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
Ontology
Human Disease   ( DOID:0112181 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models