Online Mendelian Inheritance in Man - PARAGANGLIOMAS 1 - Classes | NCBO OntoPortal Appliance

Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

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Preferred Name	PARAGANGLIOMAS 1
Synonyms	PGL1
ID	http://purl.bioontology.org/ontology/OMIM/168000
altLabel	PGL1 PGL CBT1 PARAGANGLIOMAS WITH SENSORINEURAL HEARING LOSS PARAGANGLIOMAS, FAMILIAL, 1 GLOMUS JUGULARE TUMORS PARAGANGLIOMA, CAROTID BODY GLOMUS TUMORS, FAMILIAL, 1 CAROTID BODY TUMORS PARAGANGLIOMAS, FAMILIAL NONCHROMAFFIN, 1 CHEMODECTOMAS PARAGANGLIOMATA
cui	C0007279 C0030421 C0017671 C3494181 C1868633 C0030422
Gene Locus	11q23
Gene Symbol	SDHD PGL1 CWS3
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU004453 http://purl.bioontology.org/ontology/OMIM/MTHU004459 http://purl.bioontology.org/ontology/OMIM/MTHU004447 http://purl.bioontology.org/ontology/OMIM/MTHU005855 http://purl.bioontology.org/ontology/OMIM/MTHU027351 http://purl.bioontology.org/ontology/OMIM/MTHU016396 http://purl.bioontology.org/ontology/OMIM/MTHU016394 http://purl.bioontology.org/ontology/OMIM/MTHU004465 http://purl.bioontology.org/ontology/OMIM/MTHU016392 http://purl.bioontology.org/ontology/OMIM/MTHU016390 http://purl.bioontology.org/ontology/OMIM/MTHU004461 http://purl.bioontology.org/ontology/OMIM/MTHU004451 http://purl.bioontology.org/ontology/OMIM/MTHU004467 http://purl.bioontology.org/ontology/OMIM/MTHU004457 http://purl.bioontology.org/ontology/OMIM/MTHU016388 http://purl.bioontology.org/ontology/OMIM/MTHU027352 http://purl.bioontology.org/ontology/OMIM/MTHU005856 http://purl.bioontology.org/ontology/OMIM/MTHU037052 http://purl.bioontology.org/ontology/OMIM/MTHU004444 http://purl.bioontology.org/ontology/OMIM/MTHU004442 http://purl.bioontology.org/ontology/OMIM/MTHU016395 http://purl.bioontology.org/ontology/OMIM/MTHU004458 http://purl.bioontology.org/ontology/OMIM/MTHU004448 http://purl.bioontology.org/ontology/OMIM/MTHU016391 http://purl.bioontology.org/ontology/OMIM/MTHU004460 http://purl.bioontology.org/ontology/OMIM/MTHU004462 http://purl.bioontology.org/ontology/OMIM/MTHU004443 http://purl.bioontology.org/ontology/OMIM/MTHU016397 http://purl.bioontology.org/ontology/OMIM/MTHU016389 http://purl.bioontology.org/ontology/OMIM/MTHU016387 http://purl.bioontology.org/ontology/OMIM/MTHU004445
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	168000
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	PARAGANGLIOMAS 1
tui	T191 T047

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/D005925	Medical Subject Headings	CUI
	http://purl.bioontology.org/ontology/MESH/D005925	Medical Subject Headings	CUI
	http://purl.bioontology.org/ontology/MESH/D010236	Medical Subject Headings	CUI
	http://purl.bioontology.org/ontology/MESH/D002345	Medical Subject Headings	CUI
	http://purl.bioontology.org/ontology/MESH/C566831	Medical Subject Headings	CUI
	http://purl.bioontology.org/ontology/MESH/D010235	Medical Subject Headings	CUI