MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

Hello! Guest! Please Login or Register! Clinician Mode

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: pneumoconiosis (MONDO:0015926)
..Starting node ..slate pneumoconiosis ()
Child Nodes:
Sister Nodes:
..anthracosilicosis ()
..anthracosis ()
..asbestosis ()
..baritosis ()
..byssinosis ()
..Caplan syndrome ()
..chronic beryllium disease ()
..graphite pneumoconiosis ()
..kaolin pneumoconiosis ()
..mixed dust pneumoconiosis ()
..mixed mineral dust pneumoconiosis ()
..pneumoconiosis due to talc ()
..pulmonary hemosiderosis ()
..silicosis ()
..slate pneumoconiosis ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	1004
Name:	slate pneumoconiosis
Definition:	Pneumoconiosis caused by exposure to slate dust.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	Schistosis
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal