Experimental Factor Ontology

Last uploaded: June 18, 2024
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Preferred Name

obsolete_PTEN hamartoma tumor syndrome
Synonyms

PHTS
Definitions

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 (see these terms) belong to PHTS.
ID

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

true
database_cross_reference

UMLS:C1959582
definition

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 (see these terms) belong to PHTS.
definition_citation

orphanet
deprecated

true
has_exact_synonym

PHTS
label

obsolete_PTEN hamartoma tumor syndrome
obsoleted_in_version

3.41.0
prefLabel

obsolete_PTEN hamartoma tumor syndrome
reason_for_obsolescence

Replaced with Mondo term.
term replaced by

http://purl.obolibrary.org/obo/MONDO_0017623
subClassOf

http://www.w3.org/2002/07/owl#Thing
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