Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

PARAGANGLIOMAS 3

Synonyms

GLOMUS TUMORS, FAMILIAL, 3

ID

http://purl.bioontology.org/ontology/OMIM/605373

altLabel

GLOMUS TUMORS, FAMILIAL, 3

PGL3

cui

C1854336

Gene Locus

1q21

Gene Symbol

SDHC

PGL3

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU004448

http://purl.bioontology.org/ontology/OMIM/MTHU004447

http://purl.bioontology.org/ontology/OMIM/MTHU067331

http://purl.bioontology.org/ontology/OMIM/MTHU004444

http://purl.bioontology.org/ontology/OMIM/MTHU004451

http://purl.bioontology.org/ontology/OMIM/MTHU004450

http://purl.bioontology.org/ontology/OMIM/MTHU004458

http://purl.bioontology.org/ontology/OMIM/MTHU004455

http://purl.bioontology.org/ontology/OMIM/MTHU004452

http://purl.bioontology.org/ontology/OMIM/MTHU004442

http://purl.bioontology.org/ontology/OMIM/MTHU004454

http://purl.bioontology.org/ontology/OMIM/MTHU004459

http://purl.bioontology.org/ontology/OMIM/MTHU004460

http://purl.bioontology.org/ontology/OMIM/MTHU004462

http://purl.bioontology.org/ontology/OMIM/MTHU004449

http://purl.bioontology.org/ontology/OMIM/MTHU004461

http://purl.bioontology.org/ontology/OMIM/MTHU004445

http://purl.bioontology.org/ontology/OMIM/MTHU004456

http://purl.bioontology.org/ontology/OMIM/MTHU037052

http://purl.bioontology.org/ontology/OMIM/MTHU004443

http://purl.bioontology.org/ontology/OMIM/MTHU004453

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

605373

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

PARAGANGLIOMAS 3

Scope Statement

See also PGL1 (168000) [MISCELLANEOUS]

Adult onset, wide range of age [MISCELLANEOUS]

Cells of origin are part of the diffuse neuroendocrine system (DNES) [MISCELLANEOUS]

Signs and symptoms depend on tumor location and activity [MISCELLANEOUS]

Caused by mutations in the succinate dehydrogenase complex subunit C gene (SDHC, 602413.0001) [MOLECULAR BASIS]

tui

T047

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