|
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, absence of ulna and fibula with severe limb deficiency, Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome, Al Awadi-Raas-Rothschild 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
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)