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Noonan syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0018997

Noonan Syndrome (NS) is characterized by short stature, typical facial dysmorphism and congenital heart defects. [ Orphanet:648 ]

Synonyms: Noonan syndrome Noonan's syndrome Turner's phenotype, karyotype normal

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:648 (MONDO:equivalentTo)
  • NCIT:C34854 (MONDO:equivalentTo)
  • UMLS:C0028326 (MONDO:equivalentTo)
  • NANDO:1200680 (https://orcid.org/0000-0003-0011-764X)
  • icd11.foundation:1044395354 (Orphanet:648)
  • DOID:3490 (MONDO:equivalentTo)
  • MESH:D009634 (Orphanet:648/e)
  • MedDRA:10029748 (Orphanet:648/e)
  • MEDGEN:18073 (MONDO:equivalentTo)
  • SCTID:205824006 (MONDO:equivalentTo)
  • OMIMPS:163950 (MONDO:equivalentTo)
  • NORD:1513 (MONDO:NORD)
  • GARD:10955 (MONDO:GARD)
  • ICD9:759.89 (MONDO:relatedTo)
  • NANDO:2200413 (https://orcid.org/0000-0003-0011-764X)
Subsets

ordo_disorder, gard_rare, matrix_llm__is_cancer_other, mondo_top_grouping_member, matrix_llm__txgnn_other, harrisons_view_immune_system_disorder, nord_rare, matrix_included, clingen, matrix_txgnn_grouping_member, rare, mondo_top_grouping_immune_system_disorder, mondo_top_grouping_cardiovascular_disorder, harrisons_view_musculoskeletal_system_disorder, orphanet_rare, mondo_top_grouping_syndromic_disease, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, harrisons_view_disorder_of_development_or_morphogenesis, 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, ordo_malformation_syndrome, harrisons_view_member, harrisons_view_syndromic_disease, harrisons_view_hereditary_disease, mondo_top_grouping_disorder_of_development_or_morphogenesis

ClinGen label
Noonan syndrome [ DOID:3490 Orphanet:648 icd11.foundation:1044395354 NCIT:C34854 OMIMPS:163950 ]

closeMatch

http://identifiers.org/meddra/10029748

curated content resource

https://search.clinicalgenome.org/kb/conditions/MONDO:0018997

exactMatch

http://linkedlifedata.com/resource/umls/id/C0028326

http://identifiers.org/snomedct/205824006

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1044395354

http://purl.obolibrary.org/obo/NCIT_C34854

https://omim.org/phenotypicSeries/PS163950

http://www.orpha.net/ORDO/Orphanet_648

http://identifiers.org/mesh/D009634

http://purl.obolibrary.org/obo/DOID_3490

http://identifiers.org/medgen/18073

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0021060

has related synonym

pseudo-Ullrich-Turner syndrome

Noonan-Ehmke syndrome

Ullrich-Noonan syndrome

id

MONDO:0018997

should conform to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml

term tracker item

https://github.com/monarch-initiative/mondo/issues/6744