mitochondrial complex I deficiency, nuclear type 1

mitochondrial complex I deficiency, nuclear type 1

http://purl.obolibrary.org/obo/MONDO_0100224

Synonyms: MC1DN1 mitochondrial NADH dehydrogenase component of Complex I, deficiency of NADH:Q(1) oxidoreductase deficiency mitochondrial complex I deficiency, nuclear type 1 NADH-coenzyme Q reductase deficiency

Tree view
Term mappings

This is just here as a test because I lose it

Term information

database cross reference

NANDO:1200180 (https://orcid.org/0000-0003-0011-764X)
DOID:0112074 (MONDO:equivalentTo)
OMIM:252010 (Orphanet:2609/e)
GARD:15201 (MONDO:GARD)

Subsets

gard_rare, rare

creator

https://orcid.org/0000-0001-5208-3432

exactMatch

http://purl.obolibrary.org/obo/DOID_0112074

https://omim.org/entry/252010

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0000066

http://purl.obolibrary.org/obo/MONDO_0020119

has broad synonym

mitochondrial complex 1 deficiency

mitochondrial complex I deficiency

MONDO:0100224

Term relations

Equivalent to:

mitochondrial complex I deficiency, nuclear type and has material basis in germline mutation in some NDUFS4

Subclass of: