loading...| Preferred Name |
PTEN hamartoma tumor syndrome |
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| Synonyms |
PTEN hamartoma tumor syndrome PHTS |
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| Definitions |
A group of clinically heterogeneous disorders united by a germline PTEN mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome belong to PHTS. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0017623 |
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| database_cross_reference |
UMLS:C1959582 SCTID:722859001 NCIT:C179915 DOID:0080191 Orphanet:306498 GARD:12800 NORD:1631 |
|
| definition |
A group of clinically heterogeneous disorders united by a germline PTEN mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome belong to PHTS. |
|
| exactMatch |
http://identifiers.org/snomedct/722859001 http://purl.obolibrary.org/obo/DOID_0080191 http://linkedlifedata.com/resource/umls/id/C1959582 |
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| has_exact_synonym |
PTEN hamartoma tumor syndrome PHTS |
|
| id |
MONDO:0017623 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen 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 |
|
| label |
PTEN hamartoma tumor syndrome |
|
| notation |
MONDO:0017623 |
|
| prefLabel |
PTEN hamartoma tumor syndrome |
|
| see also |
https://rarediseases.info.nih.gov/diseases/12800/pten-hamartoma-tumor-syndrome |
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| subClassOf | ||
| excluded_subClassOf |