OBO ID: DOID:0112181
Term Name: Schinzel type phocomelia Search Ontology:
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 WNT7A on chromosome 3p25.1. (2)
References:
Ontology: Human Disease   (DOID:0112181)
OTHER Schinzel type phocomelia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
WNT7A Ulna and fibula, absence of, with severe limb deficiency 276820
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None