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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: generalised lentiginosis Noonan syndrome with multiple lentigines generalized 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 progressive cardiomyopathic lentiginosis Gorlin syndrome II 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)
  • OMIMPS:151100 (MONDO:equivalentTo)
  • SCTID:111306001 (MONDO:equivalentTo)
  • UMLS:C0175704 (Orphanet:500/e)
  • NCIT:C84820 (MONDO:equivalentTo)
  • MedDRA:10062901 (Orphanet:500/e)
  • ICD9:709.09 (MONDO:relatedTo)
  • MESH:D044542 (Orphanet:500/e)
  • NORD:1360 (MONDO:NORD)
  • GARD:1100 (Orphanet:500)
Subsets

gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen

closeMatch

http://identifiers.org/meddra/10062901

exactMatch

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

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

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

http://identifiers.org/mesh/D044542

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

http://identifiers.org/snomedct/111306001

https://omim.org/phenotypicSeries/PS151100

has related synonym

Moynahan syndrome

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

id

MONDO:0007893

seeAlso

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