Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

MITOCHONDRIAL COMPLEX II DEFICIENCY
Synonyms

SUCCINATE CoQ REDUCTASE DEFICIENCY
ID

http://purl.bioontology.org/ontology/OMIM/252011
altLabel

SUCCINATE CoQ REDUCTASE DEFICIENCY
cui

C1855008
Gene Locus

19q12-q13.2
Gene Symbol

SDHAF1
Has manifestation

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU042049

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/MTHU011418

http://purl.bioontology.org/ontology/OMIM/MTHU042050

http://purl.bioontology.org/ontology/OMIM/MTHU011412

http://purl.bioontology.org/ontology/OMIM/MTHU011420

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

http://purl.bioontology.org/ontology/OMIM/MTHU000958

http://purl.bioontology.org/ontology/OMIM/MTHU003311

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

http://purl.bioontology.org/ontology/OMIM/MTHU001999

http://purl.bioontology.org/ontology/OMIM/MTHU001720

http://purl.bioontology.org/ontology/OMIM/MTHU028266

http://purl.bioontology.org/ontology/OMIM/MTHU000680

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU036363

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

http://purl.bioontology.org/ontology/OMIM/MTHU011413

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

http://purl.bioontology.org/ontology/OMIM/MTHU042048

http://purl.bioontology.org/ontology/OMIM/MTHU003586

http://purl.bioontology.org/ontology/OMIM/MTHU032437

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU011411

http://purl.bioontology.org/ontology/OMIM/MTHU038630

http://purl.bioontology.org/ontology/OMIM/MTHU049066

http://purl.bioontology.org/ontology/OMIM/MTHU003329

http://purl.bioontology.org/ontology/OMIM/MTHU001652

http://purl.bioontology.org/ontology/OMIM/MTHU028269

http://purl.bioontology.org/ontology/OMIM/MTHU028267
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

252011
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

MITOCHONDRIAL COMPLEX II DEFICIENCY
tui

T047
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0060537 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/MESH/C565375 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C565375 Medical Subject Headings LOOM