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DO Term : Birk-Barel syndrome [DOID:0050675] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A syndrome that is characterized by intellectual disability, hypotonia, hyperactivity and facies, has_material_basis_in heterozygous mutation in the KCNK9 gene on chromosome 8q24.
  • synonyms:
  • MESH:C567357,
  • GARD:10358,
  • 612292,
  • Birk-Barel mental retardation dysmorphism syndrome,
  • OMIM:612292
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Disease

Diseases --> Human genes

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Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents





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