Preferred Name |
Cowden disease |
|
Synonyms |
dysplastic gangliocytoma of cerebellum CD MHAM multiple hamartoma syndrome Cowden disease Cowden's disease Cowden syndrome |
|
Definitions |
A genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS) group. |
|
ID |
http://purl.obolibrary.org/obo/MONDO_0016063 |
|
closeMatch | ||
database_cross_reference |
SCTID:58037000 NANDO:2200918 Orphanet:201 UMLS:C0018553 OMIMPS:158350 MESH:D006223 MedDRA:10051906 UMLS:C0391826 DOID:6457 GARD:6202 NCIT:C3076 NCIT:C8419 |
|
definition |
A genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS) group. |
|
exactMatch |
http://purl.obolibrary.org/obo/Orphanet_201 http://identifiers.org/snomedct/58037000 http://linkedlifedata.com/resource/umls/id/C0018553 http://purl.obolibrary.org/obo/NCIT_C3076 http://purl.obolibrary.org/obo/DOID_6457 |
|
has_exact_synonym |
multiple hamartoma syndrome Cowden disease Cowden's disease Cowden syndrome |
|
has_related_synonym |
dysplastic gangliocytoma of cerebellum CD MHAM |
|
id |
MONDO:0016063 |
|
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#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disease |
|
label |
Cowden disease |
|
notation |
MONDO:0016063 |
|
preferred label |
Cowden disease |
|
prefLabel |
Cowden disease |
|
subClassOf | ||
excluded_subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015356 |
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://purl.obolibrary.org/obo/MONDO_0016063 | MONDO | SAME_URI | |
http://purl.obolibrary.org/obo/MONDO_0016063 | DOVES | SAME_URI | |
http://purl.obolibrary.org/obo/MONDO_0016063 | MONDO | LOOM | |
http://purl.obolibrary.org/obo/MONDO_0016063 | DOVES | LOOM | |
http://purl.obolibrary.org/obo/DOID_6457 | DTO | LOOM | |
http://purl.obolibrary.org/obo/DERMO_0000618 | DERMO | LOOM |