Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/252011
http://purl.bioontology.org/ontology/OMIM/252011
Preferred Name

MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1
Synonyms
SUCCINATE CoQ REDUCTASE DEFICIENCY
SUCCINATE DEHYDROGENASE DEFICIENCY
MC2DN1
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
SUCCINATE CoQ REDUCTASE DEFICIENCY
SUCCINATE DEHYDROGENASE DEFICIENCY
MC2DN1
prefLabel
MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1
Gene Symbol
SDHA
NDAXOA
SDHF
PPGL5
MC2DN1
SDH1
CMD1GG
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Scope Statement
Caused by mutation in the flavoprotein subunit of succinate dehydrogenase complex gene (SDHA, 600857.0001) [MOLECULAR BASIS]
Onset usually in the first year of life [MISCELLANEOUS]
Highly variable phenotype [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU011420
http://purl.bioontology.org/ontology/OMIM/MTHU011412
http://purl.bioontology.org/ontology/OMIM/MTHU000300
http://purl.bioontology.org/ontology/OMIM/MTHU003329
http://purl.bioontology.org/ontology/OMIM/MTHU001652
http://purl.bioontology.org/ontology/OMIM/MTHU003311
http://purl.bioontology.org/ontology/OMIM/MTHU042049
http://purl.bioontology.org/ontology/OMIM/MTHU001999
http://purl.bioontology.org/ontology/OMIM/MTHU036363
http://purl.bioontology.org/ontology/OMIM/MTHU042048
http://purl.bioontology.org/ontology/OMIM/MTHU000958
http://purl.bioontology.org/ontology/OMIM/MTHU004882
http://purl.bioontology.org/ontology/OMIM/MTHU011418
http://purl.bioontology.org/ontology/OMIM/MTHU038630
http://purl.bioontology.org/ontology/OMIM/MTHU074679
http://purl.bioontology.org/ontology/OMIM/MTHU036522
http://purl.bioontology.org/ontology/OMIM/MTHU036384
http://purl.bioontology.org/ontology/OMIM/MTHU000509
http://purl.bioontology.org/ontology/OMIM/MTHU000680
http://purl.bioontology.org/ontology/OMIM/MTHU036360
http://purl.bioontology.org/ontology/OMIM/MTHU074680
http://purl.bioontology.org/ontology/OMIM/MTHU036349
http://purl.bioontology.org/ontology/OMIM/MTHU032437
http://purl.bioontology.org/ontology/OMIM/MTHU000140
http://purl.bioontology.org/ontology/OMIM/MTHU000145
http://purl.bioontology.org/ontology/OMIM/MTHU011411
http://purl.bioontology.org/ontology/OMIM/MTHU001720
http://purl.bioontology.org/ontology/OMIM/MTHU000153
http://purl.bioontology.org/ontology/OMIM/MTHU008498
http://purl.bioontology.org/ontology/OMIM/MTHU000235
http://purl.bioontology.org/ontology/OMIM/MTHU000966
http://purl.bioontology.org/ontology/OMIM/MTHU000242
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tui
T047
Gene Locus
5p15
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
252011
Semantic type UMLS property
Has inheritance type
cui
C1291270
C5700310
C1855008
OMIM Entry Type
3
OMIM MimType Value
pound
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