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DO Term : Schinzel type phocomelia [DOID:0112181] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • congenital absence of ulna and fibula,
  • limb/pelvis-hypoplasia/aplasia syndrome,
  • severe limb deficit,
  • aplasia/hypoplasia of limbs and pelvis,
  • Schinzel phocomelia syndrome,
  • OMIM:276820,
  • Al Awadi-Raas-Rothschild syndrome,
  • AARRS,
  • absence of ulna and fibula with severe limb deficiency,
  • LPHAS,
  • GARD:9212,
  • Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome,
  • ORDO:2879,
  • 276820
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Disease

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Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents