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Noonan syndrome with multiple lentigines

Go to external page http://purl.obolibrary.org/obo/MONDO_0007893

A rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features. [ Orphanet:500 https://orcid.org/0000-0001-5208-3432 ]

Synonyms: Noonan syndrome with multiple lentigines generalized lentiginosis generalised lentiginosis lentigines, electrocardiographic conduction defects, 0cular hypertelorism, pulmonary stenosis, abnormalities of the genitals, retarded Growth, deafness Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome familial multiple lentigines syndrome lentiginosis profusa syndrome Cardiomyopathic lentiginosis Gorlin syndrome II progressive cardiomyopathic lentiginosis LEOPARD syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:500 (OMIM:151100)
  • DOID:14291 (MONDO:equivalentTo)
  • ICD9:709.09 (MONDO:relatedTo)
  • MedDRA:10062901 (Orphanet:500/e)
  • NCIT:C84820 (MONDO:equivalentTo)
  • MEDGEN:104494 (MONDO:equivalentTo)
  • GARD:1100 (MONDO:GARD)
  • OMIMPS:151100 (https://orcid.org/0000-0002-6601-2165)
  • SCTID:111306001 (MONDO:equivalentTo)
  • NORD:1360 (MONDO:NORD)
  • MESH:D044542 (Orphanet:500/e)
  • UMLS:C0175704 (MONDO:equivalentTo)
Subsets

ordo_disorder, matrix_llm__is_cancer_other, gard_rare, mondo_top_grouping_member, matrix_llm__txgnn_other, nord_rare, matrix_included, clingen, matrix_txgnn_grouping_member, rare, 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, harrisons_view_member, ordo_malformation_syndrome, harrisons_view_syndromic_disease, mondo_top_grouping_disorder_of_development_or_morphogenesis, harrisons_view_hereditary_disease

UK spelling synonym
generalised lentiginosis

ClinGen label
Noonan syndrome with multiple lentigines [ Orphanet:500 DOID:14291 ]

closeMatch

http://identifiers.org/meddra/10062901

curated content resource

https://search.clinicalgenome.org/kb/conditions/MONDO:0007893

exactMatch

http://linkedlifedata.com/resource/umls/id/C0175704

http://www.orpha.net/ORDO/Orphanet_500

http://identifiers.org/medgen/104494

http://purl.obolibrary.org/obo/DOID_14291

http://identifiers.org/mesh/D044542

http://purl.obolibrary.org/obo/NCIT_C84820

https://omim.org/phenotypicSeries/PS151100

http://identifiers.org/snomedct/111306001

has related synonym

Moynahan syndrome

lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, Deafnes

id

MONDO:0007893

should conform to

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