Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Autosomal dominant severe congenital neutropenia
Synonyms
ID

http://www.limics.org/hrdo/rdfns#pat_id_822
ageOfDeath

Any age
ageOfOnset

Neonatal/infancy
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Kostmann+syndrome%5Btw%5D+OR+Kostmann%27s+syndrome%5Btw%5D+OR+infantile+genetic+agranulocytosis%5Btw%5D
id_MIM

202700

257100

612541

613107
id_OMS

D70
id_Orpha

486
inheritance

Autosomal dominant
patType

disease
prefixIRI

hrdo:pat_id_822
prefLabel

Autosomal dominant severe congenital neutropenia
prevalence

<1 / 1 000 000
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_11
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