Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

LEIGH SYNDROME
Synonyms

LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX V DEFICIENCY
ID

http://purl.bioontology.org/ontology/OMIM/256000
altLabel

LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX V DEFICIENCY

LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX II DEFICIENCY

NECROTIZING ENCEPHALOPATHY, INFANTILE SUBACUTE, OF LEIGH

SNE

LS

LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX III DEFICIENCY

LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY

LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
cui

C0023264

C1850597

C1850600

C1838951

C2931891

C1850598

C1850599
Gene Locus

12q22
Gene Symbol

NDUFA12
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU036360

http://purl.bioontology.org/ontology/OMIM/MTHU040719

http://purl.bioontology.org/ontology/OMIM/MTHU028391

http://purl.bioontology.org/ontology/OMIM/MTHU036384

http://purl.bioontology.org/ontology/OMIM/MTHU000283

http://purl.bioontology.org/ontology/OMIM/MTHU036678

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

http://purl.bioontology.org/ontology/OMIM/MTHU032359

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU032357

http://purl.bioontology.org/ontology/OMIM/MTHU036754

http://purl.bioontology.org/ontology/OMIM/MTHU027885

http://purl.bioontology.org/ontology/OMIM/MTHU045553

http://purl.bioontology.org/ontology/OMIM/MTHU041841

http://purl.bioontology.org/ontology/OMIM/MTHU032360

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU010783

http://purl.bioontology.org/ontology/OMIM/MTHU010781

http://purl.bioontology.org/ontology/OMIM/MTHU028404

http://purl.bioontology.org/ontology/OMIM/MTHU028402

http://purl.bioontology.org/ontology/OMIM/MTHU000196

http://purl.bioontology.org/ontology/OMIM/MTHU008498

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

http://purl.bioontology.org/ontology/OMIM/MTHU028392

http://purl.bioontology.org/ontology/OMIM/MTHU028390

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU028396

http://purl.bioontology.org/ontology/OMIM/MTHU028394

http://purl.bioontology.org/ontology/OMIM/MTHU003416

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

http://purl.bioontology.org/ontology/OMIM/MTHU028408

http://purl.bioontology.org/ontology/OMIM/MTHU028400

http://purl.bioontology.org/ontology/OMIM/MTHU023116

http://purl.bioontology.org/ontology/OMIM/MTHU032358

http://purl.bioontology.org/ontology/OMIM/MTHU028410

http://purl.bioontology.org/ontology/OMIM/MTHU010762

http://purl.bioontology.org/ontology/OMIM/MTHU000153

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/MTHU010782

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU001725

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

http://purl.bioontology.org/ontology/OMIM/MTHU028397

http://purl.bioontology.org/ontology/OMIM/MTHU053690

http://purl.bioontology.org/ontology/OMIM/MTHU028395

http://purl.bioontology.org/ontology/OMIM/MTHU028393

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

http://purl.bioontology.org/ontology/OMIM/MTHU028401

http://purl.bioontology.org/ontology/OMIM/MTHU000964

http://purl.bioontology.org/ontology/OMIM/MTHU028405

http://purl.bioontology.org/ontology/OMIM/MTHU028403

http://purl.bioontology.org/ontology/OMIM/MTHU028399
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

256000
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

LEIGH SYNDROME
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/ICD10CM/G31.82 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/MESH/C564963 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C564021 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C564962 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C538590 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D007888 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C564964 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C564961 Medical Subject Headings CUI