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DO Term : orofaciodigital syndrome IV [DOID:0060374] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An orofaciodigital syndrome that is characterized by dysmorphic facies, the development of harmartomas of the tongue, polydactyly and limb dysplasia, has_material_basis_in autosomal recessive inheritance of mutations in the TCTN3 gene.
  • synonyms:
  • Baraitser-Burn syndrome,
  • MESH:C537133,
  • ORDO:2753,
  • OFD4,
  • 258860,
  • SNOMEDCT_US_2023_03_01:239031000,
  • UMLS_CUI:C0406727,
  • OMIM:258860
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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