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DO Term : Nil-Deshwar neurodevelopmental syndrome [DOID:0070652] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A syndrome characterized by a range of congenital anomalies and central nervous system dysfunction, including global developmental delay, feeding difficulties, hypotonia, and impaired intellectual development that has_material_basis_in heterozygous mutation in the DOT1L gene on chromosome 19p13.
  • synonyms:
  • 621265,
  • OMIM:621265
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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