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DO Term : Kenny-Caffey syndrome type 1 [DOID:0080722] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A Kenny-Caffey syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene, encoding tubulin-specific chaperone E, on chromosome 1q42.
  • synonyms:
  • GARD:8367,
  • OMIM:244460,
  • 244460,
  • ORDO:93324
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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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