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DO Term : DOORS syndrome [DOID:0111627] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A syndrome characterized by sensorineural deafness, onychodystrophy, osteodystrophy, seizures, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.3.
  • synonyms:
  • deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome,
  • OMIM:220500,
  • deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome,
  • autosomal recessive deafness-onychodystrophy syndrome,
  • 220500,
  • MESH:C538204,
  • GARD:1685,
  • UMLS_CUI:C0795927,
  • deafness-onychoosteodystrophy-intellectual disability syndrome,
  • ORDO:79500,
  • DOOR syndrome,
  • DOORS
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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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