Online Mendelian Inheritance in Man - INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/300048 http://purl.bioontology.org/ontology/OMIM/300048
Preferred Name	INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED
Synonyms	CONGENITAL SHORT BOWEL SYNDROME, X-LINKED INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, WITH CENTRAL NERVOUS SYSTEM INVOLVEMENT CIIPX CIIP IPOX CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CONGENITAL SHORT BOWEL SYNDROME, X-LINKED INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, WITH CENTRAL NERVOUS SYSTEM INVOLVEMENT CIIPX CIIP IPOX CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION See more See less
prefLabel	INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED
Gene Symbol	CSBS FLNA OPD1 NHBP CVD1 FLN1 FGS2 FMD OPD2 MNS See more See less
Scope Statement	Onset in infancy [MISCELLANEOUS] Mild facial dysmorphism is associated with duplication of the FLNA gene [MISCELLANEOUS] Caused by mutation in the filamin A gene (FLNA, 300017.0025) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU025668 http://purl.bioontology.org/ontology/OMIM/MTHU025662 http://purl.bioontology.org/ontology/OMIM/MTHU025664 http://purl.bioontology.org/ontology/OMIM/MTHU025661 http://purl.bioontology.org/ontology/OMIM/MTHU000263 http://purl.bioontology.org/ontology/OMIM/MTHU000212 http://purl.bioontology.org/ontology/OMIM/MTHU001158 http://purl.bioontology.org/ontology/OMIM/MTHU006625 http://purl.bioontology.org/ontology/OMIM/MTHU011872 http://purl.bioontology.org/ontology/OMIM/MTHU036357 http://purl.bioontology.org/ontology/OMIM/MTHU025663 http://purl.bioontology.org/ontology/OMIM/MTHU000579 http://purl.bioontology.org/ontology/OMIM/MTHU067959 http://purl.bioontology.org/ontology/OMIM/MTHU012756 http://purl.bioontology.org/ontology/OMIM/MTHU000225 http://purl.bioontology.org/ontology/OMIM/MTHU001611 http://purl.bioontology.org/ontology/OMIM/MTHU025667 http://purl.bioontology.org/ontology/OMIM/MTHU025665 http://purl.bioontology.org/ontology/OMIM/MTHU002185 http://purl.bioontology.org/ontology/OMIM/MTHU001330 http://purl.bioontology.org/ontology/OMIM/MTHU004142 http://purl.bioontology.org/ontology/OMIM/MTHU000242 See more See less
tui	T047
Gene Locus	Xq28
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	300048
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU006805
cui	C3806579 C2746068
OMIM Entry Type	3
OMIM MimType Value	pound

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