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DO Term : autosomal recessive intellectual developmental disorder 73 [DOID:0081233] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with hypotonia and mildly delayed walking, impaired intellectual development with poor or absent speech, and mildly dysmorphic features and that has_material_basis_in homozygous mutation in the NAA20 gene on chromosome 20p11.
  • synonyms:
  • OMIM:619717,
  • 619717
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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