Disease browser and phenotype portal

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MSeqDR-LSDB
Tools
- Quick-Mitome for WES
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- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
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- MitoTIP tRNA Scoring
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- Variant Tool:
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- HBCR Exome (Retired)
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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: Skin and Connective Tissue Diseases (D017437)
..Starting node ..Connective Tissue Diseases (D003240)
Child Nodes:
........Alpha-2-Deficient Collagen Disease (C565963)
........Anetoderma (D057088) 2
........Bone Fragility with Contractures, Arterial Rupture, and Deafness (C567320)
........Cartilage Diseases (D002357) 22
........Cellulitis (D002481) 3
........Collagen Diseases (D003095) 84
........Cutis Laxa (D003483) 17
........Dermatomyositis (D003882) 2
........Dupuytren Contracture (D004387) 2
........Fascial Dystrophy, Congenital (C563219)
........Homocystinuria (D006712) 5
........Lipedema (D065134)
........Lupus Erythematosus, Cutaneous (D008178) 3
........Lupus Erythematosus, Systemic (D008180) 7
........Marden-Walker syndrome (C535910)
........Marfan Syndrome (D008382) 9
........Mixed Connective Tissue Disease (D008947)
........Mucinoses (D017520) 16
........Neoplasms, Connective Tissue (D009372) 105
........Noonan Syndrome (D009634) 12
........Osteopoikilosis (D010023) 4
........Panniculitis (D015434) 6
........Penile Induration (D010411)
........Pseudoxanthoma Elasticum (D011561) 2
........Rheumatic Diseases (D012216) 38
........Scleroderma, Localized (D012594) 5
........Scleroderma, Systemic (D012595) 7
........Stickler Syndrome, Autosomal Recessive, COL9A1-Related (C565177)
........Stickler syndrome, type 1 (C537492)
........Stickler syndrome, type 2 (C537493)
........Stickler syndrome, type 3 (C537494)
........Weill-Marchesani Syndrome (D056846)
Sister Nodes:
..Connective Tissue Diseases (D003240) 376
..Skin Diseases (D012871) 1233
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	2676
Name:	Connective Tissue Diseases
Definition:	A heterogeneous group of disorders, some hereditary, others acquired, characterized by abnormal structure or function of one or more of the elements of connective tissue, i.e., collagen, elastin, or the mucopolysaccharides.
Alternative IDs:
ParentIDs:	MESH:D017437
TreeNumbers:	C17.300
Synonyms:	Connective Tissue Disease \|Disease, Connective Tissue \|Diseases, Connective Tissue
Slim Mappings:	Connective tissue disease
Reference:	MedGen: D003240 MeSH: D003240 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants