Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Congenital short bowel syndrome
Synonyms
ID	http://www.limics.org/hrdo/rdfns#pat_id_516
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=short+bowel%5Btw%5D+(neonatal+OR+infants)
id_OMS	Q41.9
id_Orpha	2301
inheritance	X-linked recessive Autosomal recessive
patType	morphological anomaly
prefixIRI	hrdo:pat_id_516
prefLabel	Congenital short bowel syndrome
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_1

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
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	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0014097	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0014097	DOVES	LOOM
http://purl.bioontology.org/ontology/OMIM/615237	OMIM	LOOM