Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

MITOCHONDRIAL COMPLEX I DEFICIENCY
Synonyms

NADH-COENZYME Q REDUCTASE DEFICIENCY
ID

http://purl.bioontology.org/ontology/OMIM/252010
altLabel

NADH-COENZYME Q REDUCTASE DEFICIENCY

NADH:Q(1) OXIDOREDUCTASE DEFICIENCY

MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF
cui

C2936907

C1838979
Gene Locus

3q13.33
Gene Symbol

TIMMDC1

C3orf1
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU028263

http://purl.bioontology.org/ontology/OMIM/MTHU000685

http://purl.bioontology.org/ontology/OMIM/MTHU004882

http://purl.bioontology.org/ontology/OMIM/MTHU028261

http://purl.bioontology.org/ontology/OMIM/MTHU000474

http://purl.bioontology.org/ontology/OMIM/MTHU003217

http://purl.bioontology.org/ontology/OMIM/MTHU000225

http://purl.bioontology.org/ontology/OMIM/MTHU042047

http://purl.bioontology.org/ontology/OMIM/MTHU000152

http://purl.bioontology.org/ontology/OMIM/MTHU000140

http://purl.bioontology.org/ontology/OMIM/MTHU000235

http://purl.bioontology.org/ontology/OMIM/MTHU000509

http://purl.bioontology.org/ontology/OMIM/MTHU036522

http://purl.bioontology.org/ontology/OMIM/MTHU000166

http://purl.bioontology.org/ontology/OMIM/MTHU058417

http://purl.bioontology.org/ontology/OMIM/MTHU028249

http://purl.bioontology.org/ontology/OMIM/MTHU000389

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU011422

http://purl.bioontology.org/ontology/OMIM/MTHU028256

http://purl.bioontology.org/ontology/OMIM/MTHU011426

http://purl.bioontology.org/ontology/OMIM/MTHU032281

http://purl.bioontology.org/ontology/OMIM/MTHU036349

http://purl.bioontology.org/ontology/OMIM/MTHU032285

http://purl.bioontology.org/ontology/OMIM/MTHU028259

http://purl.bioontology.org/ontology/OMIM/MTHU028244

http://purl.bioontology.org/ontology/OMIM/MTHU032288

http://purl.bioontology.org/ontology/OMIM/MTHU058416

http://purl.bioontology.org/ontology/OMIM/MTHU000328

http://purl.bioontology.org/ontology/OMIM/MTHU002553

http://purl.bioontology.org/ontology/OMIM/MTHU032283

http://purl.bioontology.org/ontology/OMIM/MTHU032286

http://purl.bioontology.org/ontology/OMIM/MTHU053673

http://purl.bioontology.org/ontology/OMIM/MTHU028246

http://purl.bioontology.org/ontology/OMIM/MTHU011436

http://purl.bioontology.org/ontology/OMIM/MTHU028260

http://purl.bioontology.org/ontology/OMIM/MTHU003333

http://purl.bioontology.org/ontology/OMIM/MTHU028254

http://purl.bioontology.org/ontology/OMIM/MTHU028252

http://purl.bioontology.org/ontology/OMIM/MTHU036657

http://purl.bioontology.org/ontology/OMIM/MTHU028250

http://purl.bioontology.org/ontology/OMIM/MTHU003349

http://purl.bioontology.org/ontology/OMIM/MTHU028264

http://purl.bioontology.org/ontology/OMIM/MTHU000966

http://purl.bioontology.org/ontology/OMIM/MTHU028262

http://purl.bioontology.org/ontology/OMIM/MTHU037739

http://purl.bioontology.org/ontology/OMIM/MTHU005307

http://purl.bioontology.org/ontology/OMIM/MTHU000572

http://purl.bioontology.org/ontology/OMIM/MTHU001330

http://purl.bioontology.org/ontology/OMIM/MTHU042046

http://purl.bioontology.org/ontology/OMIM/MTHU000317

http://purl.bioontology.org/ontology/OMIM/MTHU000300

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU000371

http://purl.bioontology.org/ontology/OMIM/MTHU011423

http://purl.bioontology.org/ontology/OMIM/MTHU032284

http://purl.bioontology.org/ontology/OMIM/MTHU032287

http://purl.bioontology.org/ontology/OMIM/MTHU028247

http://purl.bioontology.org/ontology/OMIM/MTHU002540

http://purl.bioontology.org/ontology/OMIM/MTHU032289

http://purl.bioontology.org/ontology/OMIM/MTHU028248

http://purl.bioontology.org/ontology/OMIM/MTHU000730

http://purl.bioontology.org/ontology/OMIM/MTHU011435

http://purl.bioontology.org/ontology/OMIM/MTHU004739

http://purl.bioontology.org/ontology/OMIM/MTHU000185

http://purl.bioontology.org/ontology/OMIM/MTHU056966

http://purl.bioontology.org/ontology/OMIM/MTHU011421

http://purl.bioontology.org/ontology/OMIM/MTHU011427

http://purl.bioontology.org/ontology/OMIM/MTHU011425

http://purl.bioontology.org/ontology/OMIM/MTHU028253

http://purl.bioontology.org/ontology/OMIM/MTHU036852

http://purl.bioontology.org/ontology/OMIM/MTHU032282

http://purl.bioontology.org/ontology/OMIM/MTHU028251

http://purl.bioontology.org/ontology/OMIM/MTHU028257

http://purl.bioontology.org/ontology/OMIM/MTHU028245

http://purl.bioontology.org/ontology/OMIM/MTHU000197

http://purl.bioontology.org/ontology/OMIM/MTHU001370

http://purl.bioontology.org/ontology/OMIM/MTHU028243

http://purl.bioontology.org/ontology/OMIM/MTHU028255

http://purl.bioontology.org/ontology/OMIM/MTHU000136
MIMTYPEMEANING

Phenotype description, molecular basis known.
Moved from

312450
notation

252010
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

MITOCHONDRIAL COMPLEX I DEFICIENCY
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C537475 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C537475 Medical Subject Headings LOOM
http://purl.obolibrary.org/obo/DOID_0060536 Human Disease Ontology 123 LOOM