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DO Term : neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies [DOID:0070346] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A syndrome that is characterized by impaired intellectual development with absent language and short stature and that has_material_basis_in homozygous mutation in the INTS1 gene on chromosome 7p22.
  • synonyms:
  • OMIM:618571,
  • 618571
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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