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: mouth disease (MONDO:0006858)
Parent Node: sensory system disease (MONDO:0005128)
..Starting node ..tongue disease ()
Child Nodes:
........ankyloglossia ()
........digestive duplication cyst of the tongue ()
........fissured tongue ()
........glossitis ()
........glossodynia ()
........hairy tongue ()
........hypertrophy of tongue papillae ()
........tongue neoplasm ()
Sister Nodes:
..auditory system disease ()
..disease of ear ()
..disease of visual system ()
..Holmes-Adie syndrome ()
..nose disease ()
..progressive external ophthalmoplegia ()
..sensory organ benign neoplasm ()
..sensory system cancer ()
..tongue disease ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	1165
Name:	tongue disease
Definition:	A disease involving the tongue.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	disease of tongue; disease or disorder of tongue; disorder of tongue; disorder of tongue; tongue disease; tongue disease or disorder
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal