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DO Term : ataxia-telangiectasia-like disorder-2 [DOID:0081385] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An autosomal recessive cerebellar ataxia that is characterized by developmental delay, ataxia, and sensorineural hearing loss and that has_material_basis_in homozygous mutation in the PCNA gene on chromosome 20p12.
  • synonyms:
  • OMIM:615919,
  • 615919,
  • ORDO:438134,
  • PCNA-related progressive neurodegenerative photosensitivity syndrome
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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