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[X] PIK3CA-related overgrowth spectrum

Go to external page http://purl.obolibrary.org/obo/MONDO_1040002

Any overgrowth syndrome resulting from pathogenic gain-of-function variants in the PIK3CA gene. The variants can be germline or somatic [ http://www.ncbi.nlm.nih.gov/pubmed/23592320 http://www.ncbi.nlm.nih.gov/pubmed/25557259 https://clinicalgenome.org/affiliation/50020/ https://orcid.org/0000-0002-0587-4693 http://www.ncbi.nlm.nih.gov/pubmed/23946963 ]

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C4728213 (MONDO:equivalentTo)
  • MEDGEN:1790024 (MONDO:equivalentTo)
Subsets

matrix_llm__is_cancer_other, matrix_llm__is_glucose_dysfunction_other, matrix_excluded, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__tag_qualy_lost_other, matrix_llm__txgnn_other, mondo_top_grouping_member, matrix_llm__medical_specialization_other, inferred_rare, matrix_llm__tag_existing_treatment_other, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, rare, harrisons_view_member, mondo_top_grouping_disorder_of_development_or_morphogenesis

creator

https://orcid.org/0000-0002-0587-4693

date

2024-07-03T13:33:20Z

exactMatch

http://linkedlifedata.com/resource/umls/id/C4728213

http://identifiers.org/medgen/1790024

has broad synonym

overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes

id

MONDO:1040002

term tracker item

https://github.com/monarch-initiative/mondo/issues/7718

Term relations