Disease browser and phenotype portal

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MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- 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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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: Bone Diseases (D001847)
..Starting node ..Genu Valgum (D056304)
Child Nodes:
........Genu valgum, st Helena familial (C537685)
........Stoelinga de Koomen Davis syndrome (C537496)
........Teeth noneruption of with maxillary hypoplasia and genu valgum (C536952)
Sister Nodes:
..Bone Cysts (D001845) 11
..Bone Diseases, Developmental (D001848) 832
..Bone Diseases, Endocrine (D001849) 40
..Bone Diseases, Infectious (D001850) 22
..Bone Diseases, Metabolic (D001851) 67
..Bone Malalignment (D017760) 7
..Bone Neoplasms (D001859) 29
..Bone Resorption (D001862) 24
..Borrone Di Rocco Crovato syndrome (C536577)
..Cloverleaf skull micromelia thoracic dysplasia (C536429)
..Coxa Valga (D060906)
..Eosinophilic Granuloma (D004803)
..Epiphyses, Slipped (D004839) 1
..Expansile Bone Lesions (C566375)
..Genu Valgum (D056304) 3
..Genu Varum (D056305) 1
..Gerodermia osteodysplastica (C537799)
..Ho Kaufman Mcalister syndrome (C538325)
..Hyperostosis (D015576) 40
..Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility (C566988)
..Kennerknecht Vogel syndrome (C537019)
..Osteitis (D010000)
..Osteitis Deformans (D010001) 5
..Osteoarthropathy, Primary Hypertrophic (D010004) 2
..Osteoarthropathy, Secondary Hypertrophic (D010005)
..Osteochondritis (D010007) 6
..Osteochondrosis (D055034) 4
..Osteonecrosis (D010020) 6
..Sclerosing bone dysplasia mental retardation (C537523)
..Spinal Diseases (D013122) 72
..Tricho-dento-osseous syndrome 1 (C536550)
..Trochlea of the Humerus, Aplasia of (C566022)
..Whyte Murphy syndrome (C536054)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	4572
Name:	Genu Valgum
Definition:	An inward slant of the thigh in which the knees are close together and the ankles far apart. Genu valgum can develop due to skeletal and joint dysplasias (e.g., OSTEOARTHRITIS; HURLER SYNDROME); and malnutrition (e.g., RICKETS; FLUORIDE POISONING).
Alternative IDs:
ParentIDs:	MESH:D001847
TreeNumbers:	C05.116.482
Synonyms:	Genu Valga \|Genu Valgas \|Genu Valgums \|Knees, Knock \|Knock Knee \|Knock Knees \|Valga, Genu \|Valgas, Genu
Slim Mappings:	Musculoskeletal disease
Reference:	MedGen: D056304 MeSH: D056304 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants