Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	X-linked adrenoleukodystrophy
Synonyms	X-linked ALD X-ALD ALD
ID	http://www.limics.org/hrdo/rdfns#pat_id_761
ageOfOnset	Variable
altLabel	X-linked ALD X-ALD ALD
id_MedDRA	10051260
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=adrenoleukodystrophy%5Bmajr%5D+AND+X+linked%5Btw%5D
id_MeSH	D000326
id_MIM	300100 302700
id_OMS	E71.3
id_Orpha	43
id_SNOMEDCT	65389002
id_UMLS	C0162309
inheritance	X-linked recessive
patType	disease
prefixIRI	hrdo:pat_id_761
prefLabel	X-linked adrenoleukodystrophy
prevalence	1-9 / 100 000
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_11

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/ICD10CM/E71.52	ICD10CM	LOOM
http://purl.bioontology.org/ontology/LNC/MTHU055485	LOINC	LOOM
http://www.orpha.net/ORDO/Orphanet_43	CCONT	LOOM
http://www.orpha.net/ORDO/Orphanet_43	ORDO	LOOM
http://www.orpha.net/ORDO/Orphanet_43	EFO	LOOM
http://purl.bioontology.org/ontology/LNC/LP242687-4	LOINC	LOOM
http://purl.bioontology.org/ontology/LNC/LA25796-6	LOINC	LOOM