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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Neoplastic Syndromes, Hereditary (D009386)
Parent Node: Paraganglioma (D010235)
..Starting node ..Paragangliomas 2 (C566646)
Child Nodes:
Sister Nodes:
..Carney-Stratakis Syndrome (C564650)
..Paraganglioma, Extra-Adrenal (D010236) 6
..Paragangliomas 2 (C566646)
..Paragangliomas 3 (C565335)
..PARAGANGLIOMAS 4 (OMIM:115310)
..Paragangliomas with Sensorineural Hearing Loss (C566831)
..Pheochromocytoma (D010673) 2
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8591

Name:

Paragangliomas 2

Definition:

Alternative IDs:

OMIM:601650

ParentIDs:

MESH:D009386|MESH:D010235

TreeNumbers:

C04.557.465.625.650.700/C566646 |C04.557.580.625.650.700/C566646 |C04.700/C566646 |C16.320.700/C566646

Synonyms:

Glomus Tumors, Familial, 2 |PGL2

Slim Mappings:

Cancer|Genetic disease (inborn)

Reference:

MedGen: C566646
MeSH: C566646
OMIM: 601650;

Genes: SDHAF2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003581	Adult onset
3	HP:0030074	Chemodectoma
4	HP:0006824	Cranial nerve paralysis
5	HP:0003001	Glomus jugular tumor
6	HP:0006715	Glomus tympanicum paraganglioma
7	HP:0001609	Hoarse voice
8	HP:0001686	Loss of voice
9	HP:0008629	Pulsatile tinnitus
10	HP:0002886	Vagal paraganglioma
11	HP:0001605	Vocal cord paralysis

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_017841.2(SDHAF2):c.232G>A (p.Gly78Arg)	54949	SDHAF2	Pathogenic	113560320	RCV000000428; RCV000165971;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C1866552,OMIM:601650	11	61205292	61205292	NM_017841.2:c.232G>A	NP_060311.1:p.Gly78Arg	NC_000011.9:g.61205292G>A	OMIM Allelic Variant:613019.0001	C0027672 Hereditary cancer-predisposing syndrome; C1866552 601650 Paragangliomas 2