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DO Term : Kahrizi syndrome [DOID:0050807] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A syndrome that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the SRD5A3 gene.
  • synonyms:
  • ORDO:168972,
  • 612713,
  • intellectual disability-cataract-coloboma-kyphosis syndrome,
  • OMIM:612713,
  • MESH:C567196,
  • KHRZ,
  • intellectual disability, Kahrizi type
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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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