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 ..Joint Instability (D007593)
Child Nodes:
........Achard syndrome (C536012)
........Arterial Tortuosity Syndrome (C565942)
........Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
........Daish Hardman Lamont syndrome (C535770)
........Desbuquois syndrome (C535943)
........Dislocation of Hip, Congenital, with Hyperextensibility of Fingers and Facial Dysmorphism (C563315)
........Hemangiomatosis, Cutaneous, with Associated Features (C562438)
........Hypospadias-Mental Retardation Syndrome (C563067)
........Jaffer Beighton syndrome (C537561)
........Megarbane syndrome (C536145)
........Mental Retardation, Joint Hypermobility, And Skin Laxity, With Or Without Metabolic Abnormalities (C567209)
........Panic Disorder with Joint Laxity (C566835)
........Patella, Familial Recurrent Dislocation Of (C566816)
........Spondyloepimetaphyseal Dysplasia With Joint Laxity (C562968)
........Spondyloepiphyseal Dysplasia with Atlantoaxial Instability (C563472)
........Van Maldergem Wetzburger Verloes syndrome (C536530)
........Young Simpson syndrome (C536717)
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:	5974
Name:	Joint Instability
Definition:	Lack of stability of a joint or joint prosthesis. Factors involved are intra-articular disease and integrity of extra-articular structures such as joint capsule, ligaments, and muscles.
Alternative IDs:
ParentIDs:	MESH:D007592
TreeNumbers:	C05.550.521
Synonyms:	Hypermobilities, Joint \|Hypermobility, Joint \|Instabilities, Joint \|Instability, Joint \|Joint Hypermobilities \|Joint Hypermobility \|Joint Instabilities \|Joint Laxities \|Joint Laxity \|Laxities, Joint \|Laxity, Joint
Slim Mappings:	Musculoskeletal disease
Reference:	MedGen: D007593 MeSH: D007593 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants