severe congenital neutropenia
neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections
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severe congenital neutropenia
Summary
severe congenital neutropenia is a rare disease[1].
Key Facts
- severe congenital neutropenia's instance of is recorded as rare disease[2].
- severe congenital neutropenia's instance of is recorded as class of disease[3].
- severe congenital neutropenia's subclass of is recorded as neutropenia[4].
- severe congenital neutropenia's subclass of is recorded as ELANE-related neutropenia[5].
- severe congenital neutropenia's subclass of is recorded as constitutional neutropenia[6].
- severe congenital neutropenia's MeSH descriptor ID is recorded as C564539[7].
- severe congenital neutropenia's OMIM ID is recorded as 300299[8].
- severe congenital neutropenia's Disease Ontology ID is recorded as DOID:0050590[9].
- severe congenital neutropenia's Orphanet ID is recorded as 86788[10].
- severe congenital neutropenia's Orphanet ID is recorded as 42738[11].
- severe congenital neutropenia's genetic association is recorded as WAS[12].
- severe congenital neutropenia's genetic association is recorded as ELANE[13].
- severe congenital neutropenia's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0050590[14].
- severe congenital neutropenia's exact match is recorded as http://identifiers.org/doid/DOID:0050590[15].
- severe congenital neutropenia's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_486[16].
- severe congenital neutropenia's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_86788[17].
- severe congenital neutropenia's UMLS CUI is recorded as C1845987[18].
- severe congenital neutropenia's ICD-10-CM is recorded as D70[19].
- severe congenital neutropenia's GARD rare disease ID is recorded as 3981[20].
- severe congenital neutropenia's GARD rare disease ID is recorded as 13592[21].
- severe congenital neutropenia's on focus list of Wikimedia project is recorded as WikiProject Medicine[22].
- severe congenital neutropenia's Mondo ID is recorded as MONDO_0010294[23].
- severe congenital neutropenia's Genetics Home Reference Conditions ID is recorded as severe-congenital-neutropenia[24].
- severe congenital neutropenia's UniProt disease ID is recorded as DI-02457[25].