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PTEN hamartoma tumor syndrome

Go to external page 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. [ Orphanet:306498 ]

Synonyms: PHTS PTEN hamartoma tumor syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:12800 (Orphanet:306498)
  • UMLS:C1959582 (Orphanet:306498/e)
  • NORD:1631 (MONDO:NORD)
  • NCIT:C179915 (MONDO:equivalentTo)
  • DOID:0080191 (MONDO:equivalentTo)
  • SCTID:722859001 (MONDO:equivalentTo)
  • Orphanet:306498 (MONDO:equivalentTo)
Subsets

gard_rare, disease_grouping, rare, nord_rare, orphanet_rare, clingen, ordo_group_of_disorders

exactMatch

http://identifiers.org/snomedct/722859001

http://purl.obolibrary.org/obo/DOID_0080191

http://www.orpha.net/ORDO/Orphanet_306498

http://purl.obolibrary.org/obo/NCIT_C179915

http://linkedlifedata.com/resource/umls/id/C1959582

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019300

id

MONDO:0017623

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0017623

https://rarediseases.info.nih.gov/diseases/12800/pten-hamartoma-tumor-syndrome

Term relations