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Disease Ontology Browser
Schinzel type phocomelia (DOID:0112181)
Alliance: disease page
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
Alt IDs: OMIM:276820, ORDO:2879
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/17/2024
MGI 6.24 		The Jackson Laboratory