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: larynx cancer (MONDO:0002352)
Parent Node: supraglottis neoplasm (MONDO:0004427)
..Starting node ..supraglottis cancer ()
Child Nodes:
........carcinoma of supraglottis ()
Sister Nodes:
..epiglottis neoplasm ()
..supraglottis cancer ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	1724
Name:	supraglottis cancer
Definition:	A malignant neoplasm that affects the supraglottic area of the larynx. The vast majority of cases are squamous cell carcinomas.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	Ca larynx - supraglottis; cancer of supraglottic part of larynx; malignant neoplasm of extrinsic larynx; malignant neoplasm of supraglottic part of larynx; malignant neoplasm of supraglottis; malignant neoplasm of the supraglottis; malignant supraglottic neoplasm; malignant supraglottic part of lary
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: ABCC9;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal