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DO Term : autosomal dominant Robinow syndrome 2 [DOID:0060765] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A Robinow syndrome characterized by autosomal dominant inheritance of mesomelic limb shortening, genital hypoplasia, and distinctive facial features that has_material_basis_in heterozygous mutation in the DVL1 gene on chromosome 1p36.
  • synonyms:
  • 616331,
  • ORDO:3107,
  • DRS2,
  • OMIM:616331
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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