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: nose disease (MONDO:0002436)
Parent Node: respiratory system disease (MONDO:0005087)
Parent Node: skull disorder (MONDO:0024654)
..Starting node ..paranasal sinus disease ()
Child Nodes:
........maxillary sinus cholesteatoma ()
........paranasal sinus neoplasm (disease) ()
........sinusitis ()
Sister Nodes:
..disease of facial skeleton ()
..paranasal sinus disease ()
..skull neoplasm ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	1735
Name:	paranasal sinus disease
Definition:	A disease involving the paranasal sinus.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	disease of paranasal sinus; disease or disorder of paranasal sinus; disorder of nasal sinus; disorder of paranasal sinus; disorder of paranasal sinus; paranasal sinus disease; paranasal sinus disease or disorder; paranasal sinus disorder; sinus disorder
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: TNNI3;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal