Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Infantile myofibromatosis
Synonyms
ID	http://www.limics.org/hrdo/rdfns#pat_id_3545
ageOfOnset	Neonatal/infancy
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Infantile+%28myofibroma%5Bti%5D+OR+myofibromatosis%5Bti%5D+OR+myofibroma%5Btw%5D+OR+myofibromatosis%5Btw%5D%29
id_MIM	228550
id_OMS	D21
id_Orpha	2591
id_SNOMEDCT	254146000
id_UMLS	C0432284
inheritance	Autosomal dominant Autosomal recessive
patType	disease
prefixIRI	hrdo:pat_id_3545
prefLabel	Infantile myofibromatosis
prevalence	Unknown
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_11

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
rgo:29462	GAMUTS	LOOM
http://radlex.org/RID/RID4299	RADLEX	LOOM
http://purl.obolibrary.org/obo/MONDO_0016824	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0016824	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0016824	DOVES	LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15197	DERMLEX	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/254146000	SNOMEDCT	LOOM
http://www.orpha.net/ORDO/Orphanet_2591	ORDO	LOOM
http://purl.bioontology.org/ontology/RCD/X78Bv	RCD	LOOM
http://purl.obolibrary.org/obo/DOID_0080109	DTO	LOOM
http://purl.obolibrary.org/obo/DOID_0080109	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_0080109	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0080109	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_0080109	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0080109	MIDO	LOOM
http://purl.obolibrary.org/obo/DOID_0080109	FNS-H	LOOM
http://purl.obolibrary.org/obo/DERMO_0001141	DERMO	LOOM