Online Mendelian Inheritance in Man - CYCLIC VOMITING SYNDROME - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

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Preferred Name	CYCLIC VOMITING SYNDROME
Synonyms	CVS-PLUS
ID	http://purl.bioontology.org/ontology/OMIM/500007
altLabel	CVS-PLUS CYCLIC VOMITING SYNDROME-PLUS CVS CYCLIC VOMITING SYNDROME WITH NEUROMUSCULAR DISEASE
cui	C1838992 C0152164 C1838991
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU006754 http://purl.bioontology.org/ontology/OMIM/MTHU006758 http://purl.bioontology.org/ontology/OMIM/MTHU036407 http://purl.bioontology.org/ontology/OMIM/MTHU006753 http://purl.bioontology.org/ontology/OMIM/MTHU006762 http://purl.bioontology.org/ontology/OMIM/MTHU006749 http://purl.bioontology.org/ontology/OMIM/MTHU006764 http://purl.bioontology.org/ontology/OMIM/MTHU006757 http://purl.bioontology.org/ontology/OMIM/MTHU006756 http://purl.bioontology.org/ontology/OMIM/MTHU006750 http://purl.bioontology.org/ontology/OMIM/MTHU006748 http://purl.bioontology.org/ontology/OMIM/MTHU006763 http://purl.bioontology.org/ontology/OMIM/MTHU006751 http://purl.bioontology.org/ontology/OMIM/MTHU006745 http://purl.bioontology.org/ontology/OMIM/MTHU006765 http://purl.bioontology.org/ontology/OMIM/MTHU006744 http://purl.bioontology.org/ontology/OMIM/MTHU006760 http://purl.bioontology.org/ontology/OMIM/MTHU006747 http://purl.bioontology.org/ontology/OMIM/MTHU006752 http://purl.bioontology.org/ontology/OMIM/MTHU006755 http://purl.bioontology.org/ontology/OMIM/MTHU006743 http://purl.bioontology.org/ontology/OMIM/MTHU006766 http://purl.bioontology.org/ontology/OMIM/MTHU006746 http://purl.bioontology.org/ontology/OMIM/MTHU000166 http://purl.bioontology.org/ontology/OMIM/MTHU006449 http://purl.bioontology.org/ontology/OMIM/MTHU006761 http://purl.bioontology.org/ontology/OMIM/MTHU002455 http://purl.bioontology.org/ontology/OMIM/MTHU006759 http://purl.bioontology.org/ontology/OMIM/MTHU036852
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	500007
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	CYCLIC VOMITING SYNDROME
Scope Statement	Mean age at onset 5 years [MISCELLANEOUS] Caused by mutation in the mitochondrial transfer RNA-leucine gene (MTTL1, 590050.0001) [MOLECULAR BASIS] Cyclic vomiting syndrome plus (CVS+) is characterized by additional neuromuscular and/or visceral organ manifestations (as indicated above) [MISCELLANEOUS] Mean age at resolution of symptoms 10 years [MISCELLANEOUS]
tui	T047

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C564023	MESH	CUI
	http://purl.bioontology.org/ontology/MDRGER/10062937	MDRGER	CUI
	http://purl.bioontology.org/ontology/MESH/C564022	MESH	CUI
	http://purl.bioontology.org/ontology/SNOMEDCT/18773000	SNOMEDCT	CUI
	http://purl.bioontology.org/ontology/MESH/C536228	MESH	CUI
	http://purl.bioontology.org/ontology/MEDDRA/10062937	MEDDRA	CUI
	http://purl.bioontology.org/ontology/SNMI/D5-32660	SNMI	CUI
	http://purl.bioontology.org/ontology/ICD10CM/R11.15	ICD10CM	CUI
	http://purl.bioontology.org/ontology/MDRFRE/10062937	MDRFRE	CUI
	http://purl.bioontology.org/ontology/SCTSPA/18773000	SCTSPA	CUI
	http://purl.bioontology.org/ontology/ICD10CM/G43.A	ICD10CM	CUI
	http://purl.obolibrary.org/obo/MONDO_0010778	MONDO	LOOM
	http://nanbyodata.jp/ontology/NANDO_2100258	NANDO	LOOM
	http://nanbyodata.jp/ontology/NANDO_2200919	NANDO	LOOM
	http://purl.bioontology.org/ontology/MEDDRA/10062937	MEDDRA	LOOM
	http://purl.obolibrary.org/obo/MONDO_0010778	DOVES	LOOM