Preferred Name

LEOPARD Syndrome [Disease/Finding]

Synonyms

LEOPARD Syndrome, 1

ID

http://purl.bioontology.org/ontology/NDFRT/N0000010971

altLabel

LEOPARD Syndrome, 1

LEOPARD Syndrome

Multiple Lentigines Syndrome

Lentiginosis Cardiomyopathic

Progressive Cardiomyopathic Lentiginosis

Cardiomyopathic Lentiginosis

Cardio-Cutaneous Syndrome

Leopard Syndrome 1

Noonan Syndrome with Multiple Lentigines

cui

C0175704

MESH DEFINITION

An autosomal dominant disorder with an acronym of its seven features (LENTIGO; ELECTROCARDIOGRAM abnormalities; ocular HYPERTELORISM; PULMONARY STENOSIS; abnormal genitalia; retardation of growth; and DEAFNESS or SENSORINEURAL HEARING LOSS). This syndrome is caused by mutations of PTPN11 gene encoding the non-receptor PROTEIN TYROSINE PHOSPHATASE, type 11, and is an allelic to NOONAN SYNDROME. Features of LEOPARD syndrome overlap with those of NEUROFIBROMATOSIS 1 which is caused by mutations in the NEUROFIBROMATOSIS 1 GENES.

MESH DUI

D044542

MeSH name

LEOPARD Syndrome

MESH UI

M0374986

NDFRT kind

DISEASE_KIND

notation

N0000010971

NUI

N0000010971

prefLabel

LEOPARD Syndrome [Disease/Finding]

SNOMED CID

111306001

403537000

tui

T047

subClassOf

http://purl.bioontology.org/ontology/NDFRT/N0000000266

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