Disease browser and phenotype portal

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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

Disease Browser
Parent Node: Connective Tissue Diseases (D003240)
Parent Node: Musculoskeletal Diseases (D009140)
..Starting node ..Cartilage Diseases (D002357)
Child Nodes:
........Chondromalacia Patellae (D046789)
........Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities (C567716)
........Fibrocartilaginous embolism (C537927)
........Keutel syndrome (C536167)
........Laryngomalacia (D055092) 1
........Osteochondritis (D010007) 6
........Pectus Carinatum (D066166)
........Polychondritis, Relapsing (D011081) 1
........Tietze's Syndrome (D013991)
........Tracheobronchomalacia (D055089) 4
Sister Nodes:
..Bone Diseases (D001847) 1082
..C SYNDROME (OMIM:211750)
..Cartilage Diseases (D002357) 22
..Fasciitis (D005208) 4
..Foot Deformities (D005530) 92
..Foot Diseases (D005534) 13
..Hand Deformities (D006226) 137
..Jaw Diseases (D007571) 199
..Joint Diseases (D007592) 230
..Muscular Diseases (D009135) 430
..Musculoskeletal Abnormalities (D009139) 1165
..Rheumatic Diseases (D012216) 38
..Spondylocarpotarsal synostosis (C535780)
..Tennis Elbow (D013716)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	1798
Name:	Cartilage Diseases
Definition:	Pathological processes involving the chondral tissue (CARTILAGE).
Alternative IDs:
ParentIDs:	MESH:D003240\|MESH:D009140
TreeNumbers:	C05.182 \|C17.300.182
Synonyms:	Cartilage Disease \|Chondromalacia \|Chondromalacias
Slim Mappings:	Connective tissue disease\|Musculoskeletal disease
Reference:	MedGen: D002357 MeSH: D002357 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants