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DO Term : multiple mitochondrial dysfunctions syndrome 3 [DOID:0080135] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A multiple mitochondrial dysfunctions syndrome that is characterized by loss of previously acquired developmental milestones in the first months or years of life, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly factor IBA57 gene on chromosome 1q42.
  • synonyms:
  • IBA57 deficiency,
  • 615330,
  • OMIM:615330,
  • ORDO:363424
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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