loading...| Preferred Name |
constitutional neutropenia |
|
| Synonyms |
Kostmann syndrome Kostmann disease infantile genetic agranulocytosis congenital neutropenia Kostmann neutropenia genetic infantile 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 |
|
| closeMatch | ||
| database_cross_reference |
Orphanet:101987 COHD:434895 ICD10:D70 NCIT:C61242 |
|
| exactMatch | ||
| has exact synonym |
Kostmann syndrome Kostmann disease infantile genetic agranulocytosis congenital neutropenia Kostmann neutropenia genetic infantile agranulocytosis |
|
| id |
MONDO:0015134 |
|
| imported from | ||
| in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_group_of_disorders |
|
| label |
constitutional neutropenia |
|
| notation |
MONDO:0015134 |
|
| prefLabel |
constitutional neutropenia |
|
| textual definition |
A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood. |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015133 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0015134 | MONDO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0015134 | EFO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0015134 | DOVES | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0015134 | MONDO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0015134 | EFO | LOOM | |
| http://www.limics.org/hrdo/rdfns#pat_id_14923 | HRDO | LOOM | |
| http://www.orpha.net/ORDO/Orphanet_101987 | ORDO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0015134 | DOVES | LOOM |