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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

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Barrett Esophagus (D001471)
Parent Node: Intestinal Pseudo-Obstruction (D007418)
..Starting node ..Mungan Syndrome (C548078)
Child Nodes:
Sister Nodes:
..Colonic Pseudo-Obstruction (D003112)
..Congenital idiopathic intestinal pseudoobstruction (C535532)
..Hydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction (C564408)
..Intestinal Pseudoobstruction with Patent Ductus Arteriosus and Natal Teeth (C538341)
..Megacystis microcolon intestinal hypoperistalsis syndrome (C536138) 1
..Megaduodenum and/or Megacystis (C563597)
..Mitochondrial neurogastrointestinal encephalopathy syndrome (C537477) 2
..Mungan Syndrome (C548078)
..Visceral myopathy familial external ophthalmoplegia (C536350)
..Visceral Myopathy, Familial (C562574) 1
..Visceral Neuropathy, Familial, Autosomal Dominant (C566502)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7487

Name:

Mungan Syndrome

Definition:

Alternative IDs:

OMIM:611376

ParentIDs:

MESH:D001471|MESH:D007418

TreeNumbers:

C06.198.102/C548078 |C06.405.117.102/C548078 |C06.405.469.531.492.500/C548078

Synonyms:

MGS |Pseudoobstruction, Chronic Idiopathic Intestinal, With Barrett Esophagus And Cardiac Abnormalities |Visceral Neuromyopathy, Familial, With Pseudoobstruction, Megaduodenum, Barrett Esophagus, And Cardiac Abnormalities

Slim Mappings:

Digestive system disease

Reference:

MedGen: C548078
MeSH: C548078
OMIM: 611376;

Genes:

Phenotypes

1	HP:0002270	Abnormality of the autonomic nervous system
2	HP:0000007	Autosomal recessive inheritance
3	HP:0100580	Barrett esophagus
4	HP:0001488	Bilateral ptosis
5	HP:0100771	Hypoperistalsis
6	HP:0004389	Intestinal pseudo-obstruction
7	HP:0030996	Megaduodenum
8	HP:0011682	Perimembranous ventricular septal defect
9	HP:0001642	Pulmonic stenosis
10	HP:0000089	Renal hypoplasia
11	HP:0005180	Tricuspid regurgitation
12	HP:0000076	Vesicoureteral reflux

Disease Causing ClinVar Variants