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DO Term : Mullegama-Klein-Martinez syndrome [DOID:0111845] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A syndromic X-linked intellectual disability characterized by global developmental delay with impaired intellectual development and poor speech and commonly associated with ear abnormalities, hearing loss, and dysmorphic facial features that has_material_basis_in heterozygous or hemizygous mutation in the STAG2 gene on chromosome Xq25.
  • synonyms:
  • NEDXCF,
  • OMIM:301022,
  • X-linked neurodevelopmental disorder with craniofacial abnormalities,
  • MKMS,
  • 301022
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Ontology

Ontology Term --> All ancestors

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Ontology Term --> Direct children

Ontology Term --> Direct parents