loading...| Preferred Name | cutaneous mastocytosis | |
| Synonyms |
CMCD mastocytosis, systemic, somatic cutaneous mastocytosis (disease) cutaneous mastocytosis mastocytosis, cutaneous cutaneous (skin) mastocytosis CM |
|
| Definitions |
Cutaneous mastocytosis is a term referring to a group of diseases characterized by abnormal accumulation and proliferation of skin mastocytes. In some cases (most commonly in adults), cutaneous mastocytosis may occur in association with mast cell infiltration of various extracutaneous organs, in which case the disorder is referred to as systemic mastocytosis. |
|
| ID |
http://www.ebi.ac.uk/efo/EFO_1000886 |
|
| closeMatch | ||
| database_cross_reference |
Orphanet:66646 icd11.foundation:1300710062 MEDGEN:210143 OMIM:154800 GARD:0007842 EFO:1000886 ONCOTREE:CMCD MONDO:0019023 MESH:D034701 ICD10:Q82.2 UMLS:C1136033 SCTID:397012002 ICDO:9740/1 DOID:3663 GARD:7842 HP:0200151 NCIT:C7137 |
|
| definition |
Cutaneous mastocytosis is a term referring to a group of diseases characterized by abnormal accumulation and proliferation of skin mastocytes. In some cases (most commonly in adults), cutaneous mastocytosis may occur in association with mast cell infiltration of various extracutaneous organs, in which case the disorder is referred to as systemic mastocytosis. |
|
| exactMatch |
http://purl.obolibrary.org/obo/Orphanet_66646 http://purl.obolibrary.org/obo/DOID_3663 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1300710062 http://identifiers.org/medgen/210143 http://linkedlifedata.com/resource/umls/id/C1136033 http://purl.obolibrary.org/obo/NCIT_C7137 http://identifiers.org/mesh/D034701 |
|
| gwas_trait |
true |
|
| has_exact_synonym |
mastocytosis, systemic, somatic cutaneous mastocytosis (disease) cutaneous mastocytosis mastocytosis, cutaneous cutaneous (skin) mastocytosis CM |
|
| has_related_synonym |
CMCD |
|
| IAO_0000233 | ||
| id |
EFO:1000886 |
|
| 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 |
cutaneous mastocytosis |
|
| notation |
EFO:1000886 |
|
| preferred label |
cutaneous mastocytosis |
|
| prefLabel |
cutaneous mastocytosis |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0100118 http://www.orpha.net/ORDO/Orphanet_183487 http://purl.obolibrary.org/obo/MONDO_0002300 |