Terminology Service for NFDI4Health
PTEN hamartoma tumor syndrome
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http://purl.obolibrary.org/obo/MONDO_0017623
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. [ ]
Term info
Label
PTEN hamartoma tumor syndrome
Synonyms
- PHTS
- PTEN hamartoma tumor syndrome
Subsets
gard_rare, disease_grouping, clingen, ordo_group_of_disorders
exactMatch
http://identifiers.org/snomedct/722859001, http://purl.obolibrary.org/obo/DOID_0080191, http://linkedlifedata.com/resource/umls/id/C1959582, http://purl.obolibrary.org/obo/Orphanet_306498
excluded subClassOf
http://purl.obolibrary.org/obo/MONDO_0019300
id
MONDO:0017623
see also
https://rarediseases.info.nih.gov/diseases/12800/pten-hamartoma-tumor-syndrome