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DO Term : Shukla-Vernon syndrome [DOID:0111841] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A syndrome characterized by global developmental delay, variably impaired intellectual development, variable dysmorphic features, and behavioral abnormalities, including autism spectrum disorder and ADHD that has_material_basis_in hemizygous mutation in the BCORL1 gene on chromosome Xq26.1.
  • synonyms:
  • SHUVER,
  • OMIM:301029,
  • 301029
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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