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: disease of facial skeleton (MONDO:0023369)
Parent Node: sinusitis (MONDO:0005961)
..Starting node ..sphenoid sinusitis ()
Child Nodes:
........acute sphenoidal sinusitis ()
........chronic sphenoidal sinusitis ()
Sister Nodes:
..chronic rhinosinusitis ()
..ethmoid sinusitis ()
..frontal sinusitis ()
..maxillary sinusitis ()
..sphenoid sinusitis ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	5964
Name:	sphenoid sinusitis
Definition:	An acute or chronic inflammatory process affecting the mucous membrane of the sphenoid sinus.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	sinusitis of sphenoid bone; sphenoid bone sinusitis; sphenoidal sinusitis
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal