Term Name: Schinzel type phocomelia
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.
Ontology: Human Disease [DOID:0112181]   ( DOID:0112181 )

Relationships
is a type of: autosomal recessive disease syndrome