Disease browser and phenotype portal

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MSeqDR-LSDB
Tools
- Quick-Mitome for WES
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- mtDNA Tool:
- mvTool
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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

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Peripheral Vascular Diseases (D016491)
..Starting node ..Raynaud Disease (D011928)
Child Nodes:
........Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps (C567088)
........CREST Syndrome (D017675)
........REYNOLDS SYNDROME (OMIM:613471)
Sister Nodes:
..Blue Toe Syndrome (D018438)
..Erythromelalgia (D004916)
..Livedo Reticularis (D054068) 1
..May-Thurner Syndrome (D062108)
..Peripheral Arterial Disease (D058729) 2
..Phlebitis (D010689) 3
..Raynaud Disease (D011928) 3
..Urethral obstruction sequence (C536477)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9605

Name:

Raynaud Disease

Definition:

An idiopathic vascular disorder characterized by bilateral Raynaud phenomenon, the abrupt onset of digital paleness or CYANOSIS in response to cold exposure or stress.

Alternative IDs:

ParentIDs:

MESH:D016491

TreeNumbers:

C14.907.617.812

Synonyms:

Cold Fingers, Hereditary |Raynaud Phenomenon |Raynaud's Disease |Raynauds Disease

Slim Mappings:

Cardiovascular disease

Reference:

MedGen: D011928
MeSH: D011928
OMIM: 179600;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000924	Abnormality of the skeletal system
3	HP:0030880	Raynaud phenomenon

Disease Causing ClinVar Variants