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DO Term : Harel-Yoon syndrome [DOID:0081395] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A syndrome that is characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy and that has_material_basis_in heterozygous mutation in the ATAD3A gene on chromosome 1p36.
  • synonyms:
  • ORDO:496790,
  • Ocular anomalies-axonal neuropathy-developmental delay syndrome,
  • OMIM:617183,
  • 617183
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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