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,

Echinobase Genes :


OMIM:

MIM:276820 - ulna and fibula, absence of, with severe limb deficiency

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee