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: head and neck neoplasm (MONDO:0005586)
Parent Node: nose disease (MONDO:0002436)
..Starting node ..nasal cavity and paranasal sinus lethal midline granuloma ()
Child Nodes:
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:	6828
Name:	nasal cavity and paranasal sinus lethal midline granuloma
Definition:	An aggressive, progressive, and destructive lesion affecting the nasal cavities, paranasal sinuses, and the palate. The vast majority of cases are malignant lymphoproliferations affecting the midline of the face in patients with nasal type extranodal NK/T-cell lymphoma.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	lethal midline granuloma; malignant granuloma of face; midfacial Necrotising lesion; Midline lethal granuloma of nasal cavity and paranasal sinus; Midline lethal granuloma of the nasal cavity and paranasal sinus; nasal cavity and paranasal sinus lethal Midline granuloma
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
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