Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED
Synonyms

CIIPX
ID

http://purl.bioontology.org/ontology/OMIM/300048
altLabel

CIIPX

IPOX

CIIP, X-LINKED

CONGENITAL SHORT BOWEL SYNDROME, X-LINKED

INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, WITH CENTRAL NERVOUS SYSTEM INVOLVEMENT

CIIP

CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION
cui

C3806579

C2746068
Gene Locus

Xq28
Gene Symbol

FLN1

FLNA

MNS

CVD1

CSBS

OPD2

NHBP

FMD

OPD1
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU000225

http://purl.bioontology.org/ontology/OMIM/MTHU028719

http://purl.bioontology.org/ontology/OMIM/MTHU000579

http://purl.bioontology.org/ontology/OMIM/MTHU011872

http://purl.bioontology.org/ontology/OMIM/MTHU025668

http://purl.bioontology.org/ontology/OMIM/MTHU025666

http://purl.bioontology.org/ontology/OMIM/MTHU038014

http://purl.bioontology.org/ontology/OMIM/MTHU025658

http://purl.bioontology.org/ontology/OMIM/MTHU025660

http://purl.bioontology.org/ontology/OMIM/MTHU004142

http://purl.bioontology.org/ontology/OMIM/MTHU025670

http://purl.bioontology.org/ontology/OMIM/MTHU025664

http://purl.bioontology.org/ontology/OMIM/MTHU025662

http://purl.bioontology.org/ontology/OMIM/MTHU036357

http://purl.bioontology.org/ontology/OMIM/MTHU000212

http://purl.bioontology.org/ontology/OMIM/MTHU001330

http://purl.bioontology.org/ontology/OMIM/MTHU025659

http://purl.bioontology.org/ontology/OMIM/MTHU025663

http://purl.bioontology.org/ontology/OMIM/MTHU025661

http://purl.bioontology.org/ontology/OMIM/MTHU025667

http://purl.bioontology.org/ontology/OMIM/MTHU025665

http://purl.bioontology.org/ontology/OMIM/MTHU001158

http://purl.bioontology.org/ontology/OMIM/MTHU000387

http://purl.bioontology.org/ontology/OMIM/MTHU000263

http://purl.bioontology.org/ontology/OMIM/MTHU012756
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

300048
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED
tui

T047
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http://purl.bioontology.org/ontology/MESH/C535532 Medical Subject Headings CUI