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: upper respiratory tract disease (MONDO:0004867)
..Starting node ..nasal cavity disease ()
Child Nodes:
........binder syndrome ()
........choanal atresia ()
........nasal cavity neoplasm ()
........rhinitis ()
Sister Nodes:
..acute laryngopharyngitis ()
..adenoid hypertrophy ()
..epiglottitis ()
..laryngeal disease ()
..nasal cavity disease ()
..nasopharyngeal disease ()
..pharyngitis ()
..tonsillitis ()
..tracheal disease ()
..uvulitis ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	2232
Name:	nasal cavity disease
Definition:	A disease involving the nasal cavity.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	disease of nasal cavity; disease or disorder of nasal cavity; disorder of nasal cavity; disorder of nasal cavity; nasal cavity disease; nasal cavity disease or disorder; nasal cavity disorder
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal