Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Neonatal adrenoleukodystrophy
Synonyms	NALD
ID	http://www.limics.org/hrdo/rdfns#pat_id_410
ageOfDeath	Child / adolescent
ageOfOnset	Neonatal/infancy
altLabel	NALD
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28adrenoleukodystrophy%5Bmh%5D+OR+Adrenoleukodystrophy%5Bti%5D%29+AND+%28newborn%5Btw%5D+OR+infant%5Bmh%5D+OR+neonatal%5Btw%5D%29
id_MeSH	D018901
id_MIM	202370 266510 601539 614863 614867 614871 614873 614877 614885 614920
id_OMS	E71.3
id_Orpha	44
id_SNOMEDCT	238061001
id_UMLS	C0282525
inheritance	Autosomal recessive
patType	disease
prefixIRI	hrdo:pat_id_410
prefLabel	Neonatal adrenoleukodystrophy
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
http://purl.obolibrary.org/obo/NCIT_C99251	BERO	LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Neonatal_Adrenoleukodystrophy	PEDTERM	LOOM
http://www.orpha.net/ORDO/Orphanet_44	ORDO	LOOM
http://purl.bioontology.org/ontology/ICD10CM/E71.511	ICD10CM	LOOM
http://nanbyodata.jp/ontology/NANDO_1200761	NANDO	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0282525	OCHV	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Neonatal_Adrenoleukodystrophy	CSEO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/238061001	SNOMEDCT	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99251	NCIT	LOOM