Disease browser and phenotype portal

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MSeqDR-LSDB
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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: Joint Diseases (D007592)
..Starting node ..Arthropathy, Neurogenic (D001177)
Child Nodes:
........Ansell Bywaters Elderking syndrome (C537773)
........Arthropathy, progressive pseudorheumatoid, of childhood (C535387)
........Jacobs syndrome (C537560)
Sister Nodes:
..Ankylosis (D000844) 10
..Arthralgia (D018771) 1
..Arthritis (D001168) 57
..Arthrogryposis (D001176) 55
..Arthropathy, Neurogenic (D001177) 3
..Borrone Di Rocco Crovato syndrome (C536577)
..Brachydactylous dwarfism Mseleni type (C537086)
..Bursitis (D002062) 1
..Calcification of Joints and Arteries (C565891)
..Chondromatosis, Synovial (D015838) 1
..Contracture (D003286) 41
..Coracoclavicular Joint, Anomalous (C565161)
..Cushing's symphalangism (C536223)
..Dwarfism stiff joint ocular abnormalities (C535724)
..Femoracetabular Impingement (D057925)
..Flynn Aird syndrome (C537066)
..GEMSS syndrome (C537679)
..Growth mental deficiency syndrome of Myhre (C537620)
..Hallux Limitus (D020857)
..Hallux Rigidus (D020859)
..Hemarthrosis (D006395)
..Hip Dysplasia, Beukes Type (C564185)
..Hydrarthrosis (D006833)
..Joint Deformities, Acquired (D016916)
..Joint Instability (D007593) 17
..Joint Loose Bodies (D007594)
..Laplane Fontaine Lagardere syndrome (C537869)
..Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy (C566379)
..Leri pleonosteosis (C537118)
..Metatarsalgia (D037061)
..Morillo-Cucci Passarge syndrome (C536983)
..Nail-Patella Syndrome (D009261) 1
..Osteoarthropathy, Primary Hypertrophic (D010004) 2
..Osteoarthropathy, Secondary Hypertrophic (D010005)
..Patellofemoral Pain Syndrome (D046788)
..Pfeiffer Palm Teller syndrome (C537889)
..Short stature and locking fingers (C537603)
..Shoulder Impingement Syndrome (D019534)
..Synovitis (D013585) 5
..Temporomandibular Joint Disorders (D013705) 2
..Thai Symphalangism Syndrome (C564303)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	923
Name:	Arthropathy, Neurogenic
Definition:	Chronic progressive degeneration of the stress-bearing portion of a joint, with bizarre hypertrophic changes at the periphery. It is probably a complication of a variety of neurologic disorders, particularly TABES DORSALIS, involving loss of sensation, which leads to relaxation of supporting structures and chronic instability of the joint. (Dorland, 27th ed)
Alternative IDs:
ParentIDs:	MESH:D007592
TreeNumbers:	C05.550.186
Synonyms:	Arthropathies, Neurogenic \|Charcot Joint \|Charcot's Joint \|Charcots Joint \|Joint, Charcot's \|Neurogenic Arthropathies \|Neurogenic Arthropathy
Slim Mappings:	Musculoskeletal disease
Reference:	MedGen: D001177 MeSH: D001177 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants