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Noonan Syndrome With Multiple Lentigines (MONDO:0007893)

A rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.

Overview

Category

musculoskeletal system disorder

syndromic disease

cardiovascular disorder

Ontology ID

MONDO:0007893

Internal:9228

Synonyms

Cardiomyopathic lentiginosis

LEOPARD syndrome

Noonan syndrome with multiple lentigines

familial multiple lentigines syndrome

generalised lentiginosis

lentigines, electrocardiographic conduction defects, 0cular hypertelorism, pulmonary stenosis, abnormalities of the genitals, retarded Growth, deafness

Moynahan syndrome

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

Mapped terms

DOID:14291

GARD:0001100

ICD9:709.09

MEDGEN:104494

MESH:D044542

MedDRA:10062901

NCIT:C84820

NORD:1360

OMIMPS:151100

Orphanet:500

SCTID:111306001

UMLS:C0175704

icd11.foundation:939197023

Child terms

MONDO:0012691

MONDO:0013380

MONDO:0100082

Results

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