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: cardiovascular disease (MONDO:0004995)
Parent Node: nose disease (MONDO:0002436)
..Starting node ..epistaxis ()
Child Nodes:
........epistaxis, hereditary ()
Sister Nodes:
..epistaxis ()
..nasal cavity and paranasal sinus lethal midline granuloma ()
..nasal cavity disease ()
..nasal dermoid cyst ()
..paranasal sinus disease ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	5305
Name:	epistaxis
Definition:	Bleeding from the nose.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	nasal hemorrhage; Nose bleed; nosebleed
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: CCDC88C;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal