Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Blackfan-Diamond anemia
Synonyms	Congenital hypoplastic anemia, Blackfan-Diamond type Aase syndrome Congenital PRCA Congenital pure red cell aplasia Aase-Smith II syndrome
ID	http://www.limics.org/hrdo/rdfns#pat_id_429
ageOfDeath	Any age
ageOfOnset	Neonatal/infancy
altLabel	Congenital hypoplastic anemia, Blackfan-Diamond type Aase syndrome Congenital PRCA Congenital pure red cell aplasia Aase-Smith II syndrome
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=diamond+blackfan+anemia%5Btw%5D+OR+anemia%2C+diamond+blackfan%5Bmh%5D+OR+diamond+blackfan+anaemia%5Btw%5D
id_MeSH	D029503
id_MIM	105650 300835 606129 606164 610629 612527 612528 612561 612562 612563 613308 613309 614900
id_OMS	D61.0
id_Orpha	124
id_SNOMEDCT	88854002
id_UMLS	C1260899
inheritance	Autosomal dominant
patType	disease
prefixIRI	hrdo:pat_id_429
prefLabel	Blackfan-Diamond anemia
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://www.orpha.net/ORDO/Orphanet_124	CCONT	LOOM
http://www.orpha.net/ORDO/Orphanet_124	EFO	LOOM
http://www.owl-ontologies.com/unnamed.owl#RID18901	DERMLEX	LOOM