Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

Preferred Name	CONGENITAL SHORT BOWEL SYNDROME
Synonyms	CSBS
ID	http://purl.bioontology.org/ontology/OMIM/615237
altLabel	CSBS
cui	C5441717
Gene Locus	11q24.1
Gene Symbol	CSBS CLMP ACAM ASAM
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU050885 http://purl.bioontology.org/ontology/OMIM/MTHU050887 http://purl.bioontology.org/ontology/OMIM/MTHU069589 http://purl.bioontology.org/ontology/OMIM/MTHU009718 http://purl.bioontology.org/ontology/OMIM/MTHU069588 http://purl.bioontology.org/ontology/OMIM/MTHU000225 http://purl.bioontology.org/ontology/OMIM/MTHU004140 http://purl.bioontology.org/ontology/OMIM/MTHU050888 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU005778
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	615237
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	CONGENITAL SHORT BOWEL SYNDROME
Scope Statement	Caused by mutation in the coxsackievirus- and adenovirus receptor-like membrane protein gene (CLMP, 611693.0001) [MOLECULAR BASIS] High infant mortality due to malnutrition as well as complications of parenteral nutrition [MISCELLANEOUS]
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SNOMEDCT/715201005	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MESH/D007418	MESH	CUI
http://purl.bioontology.org/ontology/SCTSPA/715201005	SCTSPA	CUI
http://purl.obolibrary.org/obo/MONDO_0014097	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0014097	MONDO	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_516	HRDO	LOOM
http://identifiers.org/omim/615237	REXO	LOOM
http://identifiers.org/omim/615237	GEXO	LOOM
http://identifiers.org/omim/615237	RETO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/715201005	SNOMEDCT	LOOM
http://www.orpha.net/ORDO/Orphanet_2301	ORDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0014097	DOVES	LOOM