loading...| Preferred Name |
Cowden syndrome 1 |
|
| Synonyms |
Cowden disease caused by mutation in PTEN Cowden syndrome type 1 Cowden syndrome 1 Lhermitte-Duclos syndrome PTEN Cowden disease Proteus-like syndrome CWS1 multiple hamartoma syndrome CS cerebelloparenchymal disorder 6 Lhermitte-Duclos disease cerebellar granule cell Hypertrophy and megalencephaly dysplastic gangliocytoma of the cerebellum |
|
| Definitions |
Any Cowden disease in which the cause of the disease is a mutation in the PTEN gene. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0008021 |
|
| database_cross_reference |
UMLS:C0391826 GARD:16450 OMIM:158350 |
|
| definition |
Any Cowden disease in which the cause of the disease is a mutation in the PTEN gene. |
|
| exactMatch | ||
| has material basis in germline mutation in | ||
| has_exact_synonym |
Cowden disease caused by mutation in PTEN Cowden syndrome type 1 Cowden syndrome 1 Lhermitte-Duclos syndrome PTEN Cowden disease |
|
| has_related_synonym |
Proteus-like syndrome CWS1 multiple hamartoma syndrome CS cerebelloparenchymal disorder 6 Lhermitte-Duclos disease cerebellar granule cell Hypertrophy and megalencephaly dysplastic gangliocytoma of the cerebellum |
|
| IAO_0000233 | ||
| id |
MONDO:0008021 |
|
| in_subset | ||
| label |
Cowden syndrome 1 |
|
| notation |
MONDO:0008021 |
|
| prefLabel |
Cowden syndrome 1 |
|
| treeView | ||
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0008021 | EFO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0008021 | DOVES | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0008021 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/OMIM_158350 | CCO | LOOM | |
| http://identifiers.org/omim/158350 | REXO | LOOM | |
| http://identifiers.org/omim/158350 | GEXO | LOOM | |
| http://identifiers.org/omim/158350 | RETO | LOOM | |
| http://purl.bioontology.org/ontology/OMIM/158350 | OMIM | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0008021 | DOVES | LOOM |