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DO Term : autosomal dominant keratitis-ichthyosis-deafness syndrome [DOID:0060871] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A syndrome characterized by congenital deafness, keratopachydermia and constrictions of fingers and toes that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q.
  • synonyms:
  • autosomal dominant KID syndrome,
  • ICD10CM:Q80.8,
  • OMIM:148210,
  • ORDO:477,
  • 148210
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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





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