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DO Term : Keipert syndrome [DOID:0111842] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A syndrome characterized by craniofacial and digital abnormalities, mild to severe congenital sensorineural hearing loss, and variable learning difficulties that has_material_basis_in hemizygous mutation in the GPC4 gene on chromosome Xq26.2.
  • synonyms:
  • MESH:C538337,
  • ORDO:2662,
  • 301026,
  • KPTS,
  • NCI:C186306,
  • nasodigitoacoustic syndrome,
  • UMLS_CUI:C1850627,
  • GARD:267,
  • OMIM:301026,
  • SNOMEDCT_US_2023_03_01:763774001
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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