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 |