Online Mendelian Inheritance in Man - SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT D, INTEGRAL MEMBRANE PROTEIN - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

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Preferred Name	SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT D, INTEGRAL MEMBRANE PROTEIN
Synonyms	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3
ID	http://purl.bioontology.org/ontology/OMIM/602690
altLabel	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3 PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA SDH4 SUCCINATE DEHYDROGENASE 4, INTEGRAL MEMBRANE PROTEIN PHEOCHROMOCYTOMA, SOMATIC PARAGANGLIOMA, CAROTID BODY, SOMATIC PARAGANGLIOMAS 1 WITH SENSORINEURAL HEARING LOSS SDHD PARAGANGLIOMAS 1 PHEOCHROMOCYTOMA
cui	C1847319 C0031511 C3276074 C1833930 C4016807 C1419909 C5436934 C3494181
Gene Locus	11q23
Gene Symbol	SDHD PGL1 MC2DN3
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/602690.0012 http://purl.bioontology.org/ontology/OMIM/602690.0011 http://purl.bioontology.org/ontology/OMIM/602690.0016 http://purl.bioontology.org/ontology/OMIM/602690.0010 http://purl.bioontology.org/ontology/OMIM/602690.0015 http://purl.bioontology.org/ontology/OMIM/602690.0014 http://purl.bioontology.org/ontology/OMIM/602690.0013 http://purl.bioontology.org/ontology/OMIM/602690.0017 http://purl.bioontology.org/ontology/OMIM/602690.0019 http://purl.bioontology.org/ontology/OMIM/602690.0031 http://purl.bioontology.org/ontology/OMIM/602690.0030 http://purl.bioontology.org/ontology/OMIM/602690.0028 http://purl.bioontology.org/ontology/OMIM/602690.0021 http://purl.bioontology.org/ontology/OMIM/602690.0020 http://purl.bioontology.org/ontology/OMIM/602690.0024 http://purl.bioontology.org/ontology/OMIM/602690.0022 http://purl.bioontology.org/ontology/OMIM/602690.0025 http://purl.bioontology.org/ontology/OMIM/602690.0026 http://purl.bioontology.org/ontology/OMIM/602690.0023 http://purl.bioontology.org/ontology/OMIM/602690.0029 http://purl.bioontology.org/ontology/OMIM/602690.0027 http://purl.bioontology.org/ontology/OMIM/602690.0001 http://purl.bioontology.org/ontology/OMIM/602690.0002 http://purl.bioontology.org/ontology/OMIM/602690.0006 http://purl.bioontology.org/ontology/OMIM/602690.0009 http://purl.bioontology.org/ontology/OMIM/602690.0004 http://purl.bioontology.org/ontology/OMIM/602690.0003 http://purl.bioontology.org/ontology/OMIM/602690.0005 http://purl.bioontology.org/ontology/OMIM/602690.0008 http://purl.bioontology.org/ontology/OMIM/602690.0007
MIMTYPEMEANING	Gene with known sequence
notation	602690
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT D, INTEGRAL MEMBRANE PROTEIN
tui	T047 T033 T191 T028

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C564650	MESH	CUI
	http://purl.bioontology.org/ontology/MSHFRE/D010673	MSHFRE	CUI
	http://purl.bioontology.org/ontology/LNC/LP31865-6	LOINC	CUI
	http://purl.bioontology.org/ontology/MESH/D005925	MESH	CUI
	http://purl.bioontology.org/ontology/SCTSPA/722377004	SCTSPA	CUI
	http://purl.bioontology.org/ontology/SNOMEDCT/722377004	SNOMEDCT	CUI
	http://purl.bioontology.org/ontology/SNMI/M-87000	SNMI	CUI
	http://purl.bioontology.org/ontology/NDFRT/N0000002390	NDFRT	CUI
	http://purl.bioontology.org/ontology/PDQ/CDR0000039816	PDQ	CUI
	http://purl.bioontology.org/ontology/MESH/D010673	MESH	CUI
	http://purl.bioontology.org/ontology/MEDLINEPLUS/C0031511	MEDLINEPLUS	CUI
	http://purl.bioontology.org/ontology/MSHFRE/D010235	MSHFRE	CUI
	http://purl.bioontology.org/ontology/WHOFRE/1116	WHOFRE	CUI
	http://purl.bioontology.org/ontology/ICPC2P/T73008	ICPC2P	CUI
	http://purl.bioontology.org/ontology/WHO/1116	WHO-ART	CUI
	http://purl.bioontology.org/ontology/CST/NEOPL	COSTART	CUI
	http://www.limics.org/hrdo/rdfns#gen_id_15264	HRDO	LOOM