Developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction. [ http://en.wikipedia.org/wiki/RASopathy ]
Synonyms: disorder of Ras protein signal transduction RASopathy Ras protein signal transduction disease
Term information
- GARD:22213 (MONDO:GARD)
- EFO:1001502 (MONDO:equivalentTo)
- Orphanet:536391 (https://github.com/monarch-initiative/mondo/issues/606)
- NCIT:C179667 (MONDO:equivalentTo)
- DOID:0080690 (MONDO:equivalentTo)
- MEDGEN:1792298 (MONDO:equivalentTo)
- UMLS:C5555857 (MONDO:equivalentTo)
matrix_llm__is_cancer_other, gard_rare, matrix_llm__is_glucose_dysfunction_other, otar, disease_grouping, matrix_llm__tag_qualy_lost_other, matrix_llm__txgnn_other, matrix_llm__medical_specialization_other, mondo_top_grouping_member, mondo_top_grouping_hereditary_disease, matrix_llm__tag_existing_treatment_other, matrix_included, clingen, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, rare, harrisons_view_member, harrisons_view_hereditary_disease, ordo_group_of_disorders
http://purl.obolibrary.org/obo/mondo/patterns/basis_in_disruption_of_process.yaml
http://purl.obolibrary.org/obo/mondo/patterns/disrupts_process.yaml
http://www.orpha.net/ORDO/Orphanet_536391
http://purl.obolibrary.org/obo/NCIT_C179667
http://linkedlifedata.com/resource/umls/id/C5555857
http://purl.obolibrary.org/obo/DOID_0080690
http://www.ebi.ac.uk/efo/EFO_1001502
http://identifiers.org/medgen/1792298