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Summary Literature (0)
DOID:0112181 - Schinzel type phocomelia


Disease Ontology 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.

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,

Xenbase Genes : wnt7a



Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), syndrome (is_a)