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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

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Intestinal Pseudo-Obstruction (D007418)
..Starting node ..Megacystis microcolon intestinal hypoperistalsis syndrome (C536138)
Child Nodes:
........VISCERAL MYOPATHY (OMIM:155310)
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:	6887
Name:	Megacystis microcolon intestinal hypoperistalsis syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D007418
TreeNumbers:	C06.405.469.531.492.500/C536138 \|C16.131.077/C536138
Synonyms:	Berdon syndrome \|Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Slim Mappings:	Congenital abnormality\|Digestive system disease
Reference:	MedGen: C536138 MeSH: C536138 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants