Preferred Name

LEOPARD Syndrome [Disease/Finding]

Synonyms

Cardiomyopathic Lentiginosis

ID

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

altLabel

Cardiomyopathic Lentiginosis

Lentiginosis Cardiomyopathic

LEOPARD Syndrome, 1

Leopard Syndrome 1

Noonan Syndrome with Multiple Lentigines

Multiple Lentigines Syndrome

Cardio-Cutaneous Syndrome

Progressive Cardiomyopathic Lentiginosis

LEOPARD Syndrome

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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http://purl.bioontology.org/ontology/SNMI/D4-01048 SNMI CUI
http://purl.bioontology.org/ontology/CSP/1254-7727 CRISP CUI
http://purl.bioontology.org/ontology/MESH/D044542 MESH CUI
http://purl.bioontology.org/ontology/RCD/X50Js RCD CUI
http://purl.bioontology.org/ontology/MEDDRA/10062901 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10057210 MEDDRA CUI
http://purl.bioontology.org/ontology/OMIM/151100 OMIM CUI
http://purl.bioontology.org/ontology/CSP/0944-7801 CRISP CUI
http://purl.bioontology.org/ontology/CSP/2328-1390 CRISP CUI
http://purl.bioontology.org/ontology/CSP/0723-1051 CRISP CUI
http://purl.bioontology.org/ontology/SNOMEDCT/111306001 SNOMEDCT CUI