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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: Cartilage Diseases (D002357)
..Starting node ..Polychondritis, Relapsing (D011081)
Child Nodes:
........Meyenburg-Altherr-Uehlinger syndrome (C537574)
Sister 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
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	9055
Name:	Polychondritis, Relapsing
Definition:	An acquired disease of unknown etiology, chronic course, and tendency to recur. It is characterized by inflammation and degeneration of cartilage and can result in deformities such as floppy ear and saddle nose. Loss of cartilage in the respiratory tract can lead to respiratory obstruction.
Alternative IDs:
ParentIDs:	MESH:D002357
TreeNumbers:	C05.182.531 \|C17.300.182.531
Synonyms:	Atrophic Polychondritides, Chronic \|Atrophic Polychondritis, Chronic \|Chronic Atrophic Polychondritides \|Chronic Atrophic Polychondritis \|Polychondritides, Chronic Atrophic \|Polychondritides, Relapsing \|Polychondritis, Chronic Atrophic \|Relapsing Polychondritid
Slim Mappings:	Connective tissue disease\|Musculoskeletal disease
Reference:	MedGen: D011081 MeSH: D011081 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants