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Noonan syndrome 3

Go to external page http://purl.obolibrary.org/obo/MONDO_0012371

Any Noonan syndrome in which the cause of the disease is a mutation in the KRAS gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: Noonan syndrome type 3 KRAS Noonan syndrome Noonan syndrome 3 KRAS gene related Noonan syndrome Noonan syndrome caused by mutation in KRAS NS3

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:9885 (MONDO:GARD)
  • MESH:C537847 (MONDO:equivalentTo)
  • NCIT:C176931 (MONDO:equivalentTo)
  • DOID:0060581 (MONDO:equivalentTo)
  • OMIM:609942 (MONDO:equivalentTo)
  • UMLS:C1860991 (MONDO:equivalentTo)
  • MEDGEN:349931 (MONDO:equivalentTo)
Subsets

matrix_llm__is_cancer_other, gard_rare, mondo_top_grouping_member, matrix_llm__txgnn_other, harrisons_view_immune_system_disorder, matrix_included, nord_rare, matrix_txgnn_grouping_member, mondo_top_grouping_immune_system_disorder, rare, mondo_top_grouping_cardiovascular_disorder, harrisons_view_musculoskeletal_system_disorder, mondo_top_grouping_syndromic_disease, matrix_llm__is_glucose_dysfunction_other, mondo_subtype, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, matrix_txgnn_grouping_cardiovascular_disorder, mondo_top_grouping_musculoskeletal_system_disorder, matrix_llm__tag_existing_treatment_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, harrisons_view_cardiovascular_disorder, harrisons_view_member, harrisons_view_syndromic_disease, mondo_top_grouping_disorder_of_development_or_morphogenesis, harrisons_view_hereditary_disease

abbreviation
NS3 [ https://omim.org/entry/609942 DOID:0060581 NCIT:C176931 MONDO:Lexical ]

ClinGen label
Noonan syndrome 3 [ DOID:0060581 https://omim.org/entry/609942 NCIT:C176931 MONDO:Lexical ]

exactMatch

http://identifiers.org/mesh/C537847

http://purl.obolibrary.org/obo/NCIT_C176931

http://purl.obolibrary.org/obo/DOID_0060581

https://omim.org/entry/609942

http://identifiers.org/medgen/349931

http://linkedlifedata.com/resource/umls/id/C1860991

id

MONDO:0012371

seeAlso

https://rarediseases.info.nih.gov/diseases/9885/noonan-syndrome-3