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DO Term : autosomal dominant Robinow syndrome 1 [DOID:0060766] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A Robinow syndrome characterized by autosomal dominant inheritance of dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies that has_material_basis_in heterozygous mutation in the WNT5A gene on chromosome 3p.
  • synonyms:
  • ORDO:3107,
  • DRS1,
  • OMIM:180700,
  • 180700
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents