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)
..Starting node ..oral leukoedema ()
Child Nodes:
Sister Nodes:
..adenoid hypertrophy ()
..alveolar periostitis ()
..burning mouth syndrome ()
..commissural lip fistula ()
..lichen planus, oral ()
..lip disease ()
..Ludwig's angina ()
..maxillary sinus cholesteatoma ()
..maxillary sinusitis ()
..mouth mucosa disease ()
..neoplasm of floor of mouth ()
..neoplasm of jaw ()
..odontoma ()
..oral candidiasis ()
..oral cavity neoplasm ()
..oral Crohn disease ()
..oral hairy leukoplakia ()
..oral leukoedema ()
..oral submucous fibrosis ()
..oral tuberculosis ()
..salivary gland disease ()
..tongue disease ()
..tooth 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:	6880
Name:	oral leukoedema
Definition:	A disorder of the buccal mucosa resembling early leukoplakia, characterized by the presence of filmy opalescence of the mucosa in the early stages to a whitish gray cast with a coarsely wrinkled surface in the later stages, associated with intracellular edema of the spinous or malpighian layer. (Dorland, 27th ed)
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	leukedema of mouth
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: ACADM;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal