Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
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- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
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Phenome-Disease
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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: Connective Tissue Diseases (D003240)
..Starting node ..Collagen Diseases (D003095)
Child Nodes:
........Cardiomyopathy hypogonadism collagenoma syndrome (C535582)
........Collagenoma, Familial Cutaneous (C562925)
........Collagenosis, Familial Reactive Perforating (C565687)
........Ehlers-Danlos Syndrome (D004535) 23
........Epidermolysis Bullosa Dystrophica (D016108) 8
........Keloid (D007627) 2
........Kniest dysplasia (C537207)
........Necrobiotic Disorders (D017441) 3
........Nephritis, Hereditary (D009394) 11
........Osteogenesis Imperfecta (D010013) 27
........Stickler Syndrome (C580472)
Sister 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)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	2480
Name:	Collagen Diseases
Definition:	Historically, a heterogeneous group of acute and chronic diseases, including rheumatoid arthritis, systemic lupus erythematosus, progressive systemic sclerosis, dermatomyositis, etc. This classification was based on the notion that 'collagen' was equivalent to 'connective tissue', but with the present recognition of the different types of collagen and the aggregates derived from them as distinct entities, the term 'collagen diseases' now pertains exclusively to those inherited conditions in which the primary defect is at the gene level and affects collagen biosynthesis, post-translational modification, or extracellular processing directly. (From Cecil Textbook of Medicine, 19th ed, p1494)
Alternative IDs:
ParentIDs:	MESH:D003240
TreeNumbers:	C17.300.200
Synonyms:	Collagen Disease \|Disease, Collagen \|Diseases, Collagen
Slim Mappings:	Connective tissue disease
Reference:	MedGen: D003095 MeSH: D003095 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants