MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation 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

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: extrinsic allergic alveolitis (MONDO:0004553)
..Starting node ..bird fancier's lung ()
Child Nodes:
Sister Nodes:
..alveolar periostitis ()
..bagassosis ()
..bird fancier's lung ()
..cork-handlers' disease ()
..farmer's lung disease ()
..malt worker's lung ()
..mushroom workers' lung ()
..sick building syndrome ()
..ventilation pneumonitis ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	5668
Name:	bird fancier's lung
Definition:	Hypersensitivity granulomatous pneumonitis caused by the inhalation of avian antigens that are present in the dust of the droppings and feathers of many species of birds. In the acute phase it manifests as fever, chills, dyspnea, cough, and chest tightness. Chronic exposure may lead to interstitial lung fibrosis.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	Avian hypersensitivity pneumonitis; bird breeder's lung; bird fancier lung; bird fancier's lung; Bird-breeder's lung; Bird-fancier's lung; Bird-fanciers' lung; pigeon breeder's lung; pigeon-breeder's lung; poultry worker's lung
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal