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: benign neoplasm of esophagus (MONDO:0021459)
Parent Node: lipoma (MONDO:0005106)
..Starting node ..esophageal lipoma ()
Child Nodes:
Sister Nodes:
..angiolipoma ()
..axillary lipoma ()
..breast lipoma ()
..central nervous system lipoma ()
..chest wall lipoma ()
..chondroid lipoma ()
..colorectal lipoma ()
..conventional lipoma ()
..endobronchial lipoma ()
..esophageal lipoma ()
..external ear lipoma ()
..familial multiple lipomatosis ()
..gallbladder lipoma ()
..heart lipoma ()
..hibernoma ()
..infiltrating lipoma ()
..internal auditory canal lipoma ()
..kidney lipoma ()
..lipoma of face ()
..lipoma of stomach ()
..liver lipoma ()
..lumbosacral lipoma ()
..paratesticular lipoma ()
..pleomorphic lipoma ()
..pleural lipoma ()
..skin lipoma ()
..spindle cell lipoma ()
..tendon sheath lipoma ()
..thymus lipoma ()
..tonsillar lipoma ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	963
Name:	esophageal lipoma
Definition:	A benign adipose tissue neoplasm of the esophagus. Clinical presentation includes obstruction, dysphagia, regurgitation, vomiting and reflux. It may be associated with aspiration and consecutive respiratory infections.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	esophageal lipoma; esophagus lipoma; lipoma of esophagus; lipoma of the esophagus
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal