Mondo Disease Ontology / Mondo疾病本体

Last uploaded: August 7, 2023
Preferred Name

constitutional neutropenia

Synonyms

genetic infantile agranulocytosis

Kostmann disease

Kostmann syndrome

Kostmann neutropenia

congenital neutropenia

infantile genetic agranulocytosis

Definitions

A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood.

ID

http://purl.obolibrary.org/obo/MONDO_0015134

database_cross_reference

NCIT:C61242

ICD10CM:D70

Orphanet:101987

definition

A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_101987

http://purl.obolibrary.org/obo/NCIT_C61242

has_exact_synonym

genetic infantile agranulocytosis

congenital neutropenia

infantile genetic agranulocytosis

has_narrow_synonym

Kostmann disease

Kostmann syndrome

Kostmann neutropenia

id

MONDO:0015134

in_subset

http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders

http://purl.obolibrary.org/obo/mondo#disease_grouping

label

constitutional neutropenia

notation

MONDO:0015134

prefLabel

constitutional neutropenia

treeView

http://purl.obolibrary.org/obo/MONDO_0015133

http://purl.obolibrary.org/obo/MONDO_0009332

http://purl.obolibrary.org/obo/MONDO_0001475

subClassOf

http://purl.obolibrary.org/obo/MONDO_0015133

http://purl.obolibrary.org/obo/MONDO_0009332

http://purl.obolibrary.org/obo/MONDO_0001475

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http://purl.obolibrary.org/obo/MONDO_0015134 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0015134 Experimental Factor Ontology / 实验性因素本体 SAME_URI
http://www.orpha.net/ORDO/Orphanet_101987 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bmicc.cn/ontology/ICD11CN/4B00.00 《国际疾病分类》第11版中文版 / International Classification of Diseases, 11th Edition, China LOOM