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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: Genetic Diseases, X-Linked (D040181)
Parent Node: Hydrocephalus (D006849)
Parent Node: Intestinal Pseudo-Obstruction (D007418)
..Starting node ..Hydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction (C564408)
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:	5312
Name:	Hydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction
Definition:
Alternative IDs:
ParentIDs:	MESH:D006849\|MESH:D007418\|MESH:D040181
TreeNumbers:	C06.405.469.531.492.500/C564408 \|C10.228.140.602/C564408 \|C10.228.140.631.450/C564408 \|C16.320.322/C564408
Synonyms:
Slim Mappings:	Digestive system disease\|Genetic disease (inborn)\|Nervous system disease
Reference:	MedGen: C564408 MeSH: C564408 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants