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Experimental Factor Ontology
| Preferred Name | Mastocytosis | |
| Synonyms |
MAST cell disease urticaria pigmentosa Mast cell disease mastocytosis mast cell hyperplasia |
|
| Definitions |
A clonal myeloproliferative neoplasm characterized by the proliferation and accumulation of neoplastic mast cells in one or multiple organs or organ systems. It is a heterogeneous group of neoplasms, ranging from cutaneous proliferations which may regress spontaneously, to aggressive neoplasms associated with organ failure and short survival. |
|
| ID |
http://www.ebi.ac.uk/efo/EFO_0009001 |
|
| closeMatch |
http://identifiers.org/snomedct/125541005 |
|
| created_by |
paolaroncaglia
|
|
| creation_date |
2018-04-18T15:35:48Z
|
|
| creator |
paolaroncaglia
|
|
| database_cross_reference |
Orphanet:98292 MEDGEN:9902 icd11.foundation:691643472 GARD:0006987 ICD10WHO:Q82.2 OMIM:154800 MONDO:0007950 UMLS:C0024899 MedDRA:10026891 ICD10:Q82.2 ONCOTREE:MCD ICD10:D47.0 MESH:D008415 NCIT:C84269 ICD10:C96.2 DOID:350 GARD:6987 NORD:1408
|
|
| definition |
A clonal myeloproliferative neoplasm characterized by the proliferation and accumulation of neoplastic mast cells in one or multiple organs or organ systems. It is a heterogeneous group of neoplasms, ranging from cutaneous proliferations which may regress spontaneously, to aggressive neoplasms associated with organ failure and short survival.
|
|
| exactMatch |
http://purl.obolibrary.org/obo/DOID_350 http://purl.obolibrary.org/obo/Orphanet_98292 http://purl.obolibrary.org/obo/NCIT_C84269 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/691643472 http://linkedlifedata.com/resource/umls/id/C0024899 http://identifiers.org/mesh/D008415 http://identifiers.org/omim/154800 http://identifiers.org/medgen/9902 https://icd.who.int/browse10/2019/en#/Q82.2 |
|
| gwas_trait |
true
|
|
| has_exact_synonym |
Mast cell disease mastocytosis mast cell hyperplasia
|
|
| has_related_synonym |
MAST cell disease urticaria pigmentosa
|
|
| id |
EFO:0009001
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo#disease_grouping http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders |
|
| label |
Mastocytosis
|
|
| notation |
EFO:0009001
|
|
| preferred label |
Mastocytosis
|
|
| prefLabel |
Mastocytosis
|
|
| subClassOf |
http://www.ebi.ac.uk/efo/EFO_0009000 |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |