Noonan syndrome with multiple lentigines
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 ]
Term info
- UMLS:C0175704 (Orphanet:500/e)
- MedDRA:10062901 (Orphanet:500/e)
- SCTID:111306001 (MONDO:equivalentTo)
- ICD9:709.09 (MONDO:relatedTo)
- MESH:D044542 (Orphanet:500/e)
- Orphanet:500 (OMIM:151100)
- OMIMPS:151100 (MONDO:equivalentTo)
- GARD:0001100 (MONDO:equivalentTo)
- NCIT:C84820 (MONDO:equivalentTo)
- UMLS:CN074218 (MONDO:ncbi_mim2gene_medline)
- DOID:14291 (MONDO:equivalentTo)
ordo_malformation_syndrome, clingen
http://identifiers.org/meddra/10062901
A rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.
http://linkedlifedata.com/resource/umls/id/C0175704, http://purl.obolibrary.org/obo/Orphanet_500, http://identifiers.org/mesh/D044542, http://purl.obolibrary.org/obo/DOID_14291, http://linkedlifedata.com/resource/umls/id/CN074218, http://purl.obolibrary.org/obo/NCIT_C84820, http://identifiers.org/snomedct/111306001, https://omim.org/phenotypicSeries/PS151100
generalized lentiginosis, Noonan syndrome with multiple lentigines, 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
Moynahan syndrome, lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, Deafnes
MONDO:0007893