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. [ https://orcid.org/0000-0001-5208-3432 Orphanet:500 ]
Synonyms: Noonan syndrome with multiple lentigines generalised lentiginosis 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 Cardiomyopathic lentiginosis Gorlin syndrome II LEOPARD syndrome
Term information
- OMIMPS:151100 (https://orcid.org/0000-0002-6601-2165)
- UMLS:C0175704 (MONDO:equivalentTo)
- Orphanet:500 (OMIM:151100)
- NCIT:C84820 (MONDO:equivalentTo)
- GARD:1100 (MONDO:GARD)
- MESH:D044542 (Orphanet:500/e)
- MEDGEN:104494 (MONDO:equivalentTo)
- SCTID:111306001 (MONDO:equivalentTo)
- DOID:14291 (MONDO:equivalentTo)
- MedDRA:10062901 (Orphanet:500/e)
- NORD:1360 (MONDO:NORD)
- ICD9:709.09 (MONDO:relatedTo)
gard_rare, ordo_disorder, otar, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen
http://linkedlifedata.com/resource/umls/id/C0175704
http://www.orpha.net/ORDO/Orphanet_500
http://identifiers.org/medgen/104494
http://identifiers.org/mesh/D044542
http://purl.obolibrary.org/obo/DOID_14291
http://purl.obolibrary.org/obo/NCIT_C84820
https://omim.org/phenotypicSeries/PS151100
http://identifiers.org/snomedct/111306001
Moynahan syndrome
lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, Deafnes