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National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
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| Id | http://purl.bioontology.org/ontology/NDFRT/N0000010971
http://purl.bioontology.org/ontology/NDFRT/N0000010971
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|---|---|
| Preferred Name | LEOPARD Syndrome [Disease/Finding] |
| Synonyms |
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
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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
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|---|---|
| prefLabel |
LEOPARD Syndrome [Disease/Finding]
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| notation |
N0000010971
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| 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.
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| MESH UI |
M0374986
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| subClassOf | |
| Semantic type UMLS property | |
| MeSH name |
LEOPARD Syndrome
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| NDFRT kind |
DISEASE_KIND
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| type | |
| SNOMED CID |
111306001
403537000
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| tui |
T047
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| NUI |
N0000010971
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| cui |
C0175704
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| MESH DUI |
D044542
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