ZFIN Human Disease: multiple mitochondrial dysfunctions syndrome 1

OBO ID: DOID:0080133

Term Name:	multiple mitochondrial dysfunctions syndrome 1		Search Ontology:
Synonyms:	NFU1 deficiency
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. (5)
References:	GARD:12632 OMIM:605711 ORDO:401869
Ontology:	Human Disease ( DOID:0080133 )

Relationships

is a type of:	autosomal recessive disease multiple mitochondrial dysfunctions syndrome autosomal recessive disease multiple mitochondrial dysfunctions syndrome Show first 5 Terms

OTHER multiple mitochondrial dysfunctions syndrome 1 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
NFU1	nfu1	Multiple mitochondrial dysfunctions syndrome 1	605711

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None