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: adenocarcinoma (MONDO:0004970)
Parent Node: carcinoma of esophagus (MONDO:0019086)
..Starting node ..esophageal adenocarcinoma ()
Child Nodes:
........Barrett adenocarcinoma ()
........esophageal adenoid cystic carcinoma ()
........mucoepidermoid esophageal carcinoma ()
Sister Nodes:
..carcinoma of esophagus, salivary gland type ()
..esophageal adenocarcinoma ()
..esophageal small cell neuroendocrine carcinoma ()
..esophageal squamous cell carcinoma ()
..esophagus carcinoma in situ ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	5028
Name:	esophageal adenocarcinoma
Definition:	A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus. Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported. Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas. Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. The prognosis is poor.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	adenocarcinoma - esophagus; adenocarcinoma of esophagus; adenocarcinoma of esophagus; adenocarcinoma of the esophagus; esophageal adenocarcinoma; esophagus adenocarcinoma; oesophageal adenocarcinoma; oesophageal adenocarcinoma NOS
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal