multiple mitochondrial dysfunctions syndrome 1

Summary

DOID:0080133 - multiple mitochondrial dysfunctions syndrome 1

Disease Ontology Definition:A multiple mitochondrial dysfunctions syndrome that is characterized by weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the NFU1 iron-sulfur cluster scaffold gene on chromosome 2p13.

Synonyms: NFU1 deficiency

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: nfu1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011582 - multiple mitochondrial dysfunctions syndrome 1

MONDO:0011582 - multiple mitochondrial dysfunctions syndrome 1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), mitochondrial metabolism disease (is_a), multiple mitochondrial dysfunctions syndrome (is_a)