Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Preferred Name	MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO
Synonyms	AUTONOMIC FAILURE, PURE HYPOTENSION, ORTHOSTATIC MSA1 MSA1, SUSCEPTIBILITY TO
ID	http://purl.bioontology.org/ontology/OMIM/146500
altLabel	AUTONOMIC FAILURE, PURE HYPOTENSION, ORTHOSTATIC MSA1 MSA1, SUSCEPTIBILITY TO
cui	C0393911 C0020651 C3714927
Gene Locus	4q21-q22
Gene Symbol	COQ10D1 MSA1 COQ2
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU026589 http://purl.bioontology.org/ontology/OMIM/MTHU000474 http://purl.bioontology.org/ontology/OMIM/MTHU016549 http://purl.bioontology.org/ontology/OMIM/MTHU026591 http://purl.bioontology.org/ontology/OMIM/MTHU001817 http://purl.bioontology.org/ontology/OMIM/MTHU051424 http://purl.bioontology.org/ontology/OMIM/MTHU026587 http://purl.bioontology.org/ontology/OMIM/MTHU000765 http://purl.bioontology.org/ontology/OMIM/MTHU000933 http://purl.bioontology.org/ontology/OMIM/MTHU008082 http://purl.bioontology.org/ontology/OMIM/MTHU026593 http://purl.bioontology.org/ontology/OMIM/MTHU000283 http://purl.bioontology.org/ontology/OMIM/MTHU003334 http://purl.bioontology.org/ontology/OMIM/MTHU001772 http://purl.bioontology.org/ontology/OMIM/MTHU000926 http://purl.bioontology.org/ontology/OMIM/MTHU036392 http://purl.bioontology.org/ontology/OMIM/MTHU000301 http://purl.bioontology.org/ontology/OMIM/MTHU026588 http://purl.bioontology.org/ontology/OMIM/MTHU000764 http://purl.bioontology.org/ontology/OMIM/MTHU036679 http://purl.bioontology.org/ontology/OMIM/MTHU026586 http://purl.bioontology.org/ontology/OMIM/MTHU000140 http://purl.bioontology.org/ontology/OMIM/MTHU000479 http://purl.bioontology.org/ontology/OMIM/MTHU036878 http://purl.bioontology.org/ontology/OMIM/MTHU026590
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	146500
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO
Scope Statement	Onset in middle age [MISCELLANEOUS] Variable phenotype [MISCELLANEOUS] Poor response to L-dopa treatment [MISCELLANEOUS] Heterozygous, homozygous, and compound heterozygous COQ2 mutations have been identified [MISCELLANEOUS] Susceptibility conferred by mutation in the Coenzyme Q2, polyprenyltransferase gene (COQ2, 609825.0006) [MOLECULAR BASIS] Progressive disorder [MISCELLANEOUS]
tui	T047 T033

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SNMI/D3-04104	SNMI	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000181140	NDFRT	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/84438001	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/RCD/X00CJ	RCD	CUI
http://purl.bioontology.org/ontology/SCTSPA/84438001	SCTSPA	CUI
http://purl.bioontology.org/ontology/MESH/D054970	MESH	CUI
http://purl.bioontology.org/ontology/MSHFRE/D054970	MSHFRE	CUI
http://purl.bioontology.org/ontology/WHO/0213	WHO-ART	CUI
http://purl.bioontology.org/ontology/MEDDRA/10036433	MEDDRA	CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0020651	MEDLINEPLUS	CUI
http://purl.bioontology.org/ontology/MSHFRE/D007024	MSHFRE	CUI
http://purl.bioontology.org/ontology/ICPC2P/K88003	ICPC2P	CUI
http://purl.bioontology.org/ontology/CSP/0571-5870	CRISP	CUI
http://purl.bioontology.org/ontology/ICD10/I95.1	ICD10	CUI
http://purl.bioontology.org/ontology/MDRFRE/10021104	MDRFRE	CUI
http://purl.bioontology.org/ontology/MDRGER/10031127	MDRGER	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/28651003	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MEDDRA/10031127	MEDDRA	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001650	NDFRT	CUI
http://purl.bioontology.org/ontology/ICPC2P/K88005	ICPC2P	CUI
http://purl.bioontology.org/ontology/MEDDRA/10021100	MEDDRA	CUI
http://purl.bioontology.org/ontology/MDRFRE/10021100	MDRFRE	CUI
http://purl.bioontology.org/ontology/MDRFRE/10031127	MDRFRE	CUI
http://purl.bioontology.org/ontology/RCD/G870.	RCD	CUI
http://purl.bioontology.org/ontology/MDRGER/10021104	MDRGER	CUI
http://purl.bioontology.org/ontology/MDRGER/10021100	MDRGER	CUI
http://purl.bioontology.org/ontology/SCTSPA/28651003	SCTSPA	CUI
http://purl.bioontology.org/ontology/CST/HYPOTENS%20POST	COSTART	CUI
http://purl.bioontology.org/ontology/WHOFRE/0213	WHOFRE	CUI
http://purl.bioontology.org/ontology/MEDDRA/10021104	MEDDRA	CUI
http://purl.bioontology.org/ontology/MDRGER/10036433	MDRGER	CUI
http://purl.bioontology.org/ontology/ICD10CM/I95.1	ICD10CM	CUI
http://purl.bioontology.org/ontology/LNC/LA27841-8	LOINC	CUI
http://purl.bioontology.org/ontology/MESH/D007024	MESH	CUI
http://purl.bioontology.org/ontology/ICD9CM/458.0	ICD9CM	CUI
http://purl.bioontology.org/ontology/MDRFRE/10036433	MDRFRE	CUI
http://purl.bioontology.org/ontology/SNMI/D3-04100	SNMI	CUI
http://purl.obolibrary.org/obo/MONDO_0020715	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0020715	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0020715	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0020715	DOVES	LOOM