FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Schinzel type phocomelia ID (Ontology) DOID:0112181 (Human Disease)
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.
Also Known As "AARRS" ; "absence of ulna and fibula with severe limb deficiency" ; "Al Awadi-Raas-Rothschild syndrome" (for all, see Synonyms field below)
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 Genes
 Schinzel type phocomelia       1
 for disease ribbon | Schinzel type phocomelia       1
 model of | Schinzel type phocomelia       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 Schinzel type phocomelia  1 rec.
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Is a autosomal recessive disease
syndrome
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Synonyms
  • "AARRS" EXACT OMO:0003012
    "absence of ulna and fibula with severe limb deficiency" EXACT
    "Al Awadi-Raas-Rothschild syndrome" EXACT
    "Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome" EXACT
    "aplasia/hypoplasia of limbs and pelvis" EXACT
    "congenital absence of ulna and fibula" EXACT
    "limb/pelvis-hypoplasia/aplasia syndrome" EXACT
    "LPHAS" EXACT OMO:0003012
    "Schinzel phocomelia syndrome" EXACT
    "severe limb deficit" EXACT
Secondary IDs
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GARD:9212
MIM:276820
ORDO:2879