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DO Term : omodysplasia 2 [DOID:0080845] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An omodysplasia that is characterized by shortened humeri, dislocated radial heads, shortened first metacarpals, craniofacial dysmorphism, and variable genitourinary anomalies and that has_material_basis_in heterozygous mutation in the FZD2 gene on chromosome 17q21.
  • synonyms:
  • 164745,
  • UMLS_CUI:C2750355,
  • OMIM:164745,
  • MESH:C567664,
  • SNOMEDCT_US_2023_03_01:725165009
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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