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: cholesteatoma (disease) (MONDO:0006530)
Parent Node: disease of facial skeleton (MONDO:0023369)
Parent Node: mouth disease (MONDO:0006858)
Parent Node: paranasal sinus disease (MONDO:0001735)
..Starting node ..maxillary sinus cholesteatoma ()
Child Nodes:
Sister Nodes:
..maxillary sinus cholesteatoma ()
..paranasal sinus neoplasm (disease) ()
..sinusitis ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	6577
Name:	maxillary sinus cholesteatoma
Definition:	A rare, progressive, non-neoplastic pathologic process that arises from the maxillary sinus mucosal epithelium. It is characterized by the proliferation of keratinizing squamous epithelium and the formation of keratin sheets. It may lead to bone erosion and infections. Surgical removal is the appropriate treatment.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	cholesteatoma (disease) of maxillary sinus; maxillary sinus cholesteatoma (disease)
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal