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DO Term : Kabuki syndrome [DOID:0060473] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects.
  • synonyms:
  • UMLS_CUI:C0796004,
  • KMS,
  • OMIM:300867,
  • MESH:C537705,
  • NCI:C124837,
  • GARD:6810,
  • 300867,
  • 147920,
  • ORDO:2322,
  • Kabuki make up syndrome,
  • Niikawa-Kuroki syndrome,
  • OMIM:147920,
  • SNOMEDCT_US_2023_03_01:205805008
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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