LEOPARD Syndrome

Preferred Label : LEOPARD Syndrome;

NCIt synonyms : Multiple Lentigines Syndrome;

NCIt related terms : Lentigines, Electrocardiographic Conduction Defects, Ocular Hypertelorism, Pulmonary Stenosis, Abnormalities of the Genitals, Retarded Growth, Deafness;

NCIt definition : A genetic syndrome caused by mutations in the PTPN11 and RAF1 genes. It is characterized by the following abnormalities: multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities in genitalia, growth retardation, and deafness.;

Alternative definition : NICHD: A genetic syndrome caused by mutation(s) in the PTPN11, RAF1, or the BRAF genes, encoding tyrosine-protein phosphatase non-receptor type 11 and RAF proto-oncogene serine/threonine-protein kinase, and serine/threonine-protein kinase B-raf, respectively. Affected male individuals may exhibit unilateral or bilateral cryptorchidism, small penis, and/or hypospadias (urinary meatus on the dorsal side of the penis). Affected female individuals may have ovarian hypoplasia or agenesis. Primary hypogonadism in both female and male individuals may result in delayed puberty.;

Details

Origin ID

C84820;

UMLS CUI

C0175704;

Automatic exact mappings (from CISMeF team)
- Leopard syndrome [OMIM phenotypic series]
Currated CISMeF NLP mapping
- LEOPARD syndrome [PASCAL descriptor]
- LEOPARD syndrome [ICD-11 More detail]
- LEOPARD syndrome [MeSH Descriptor]
- LEOPARD syndrome [MeSH concept]
- LEOPARD syndrome [MedDRA LLT]
- Leopard syndrome 1 [OMIM Phenotype]
- Multiple lentigines syndrome [MedDRA Preferred Term]
- Multiple lentigines syndrome (disorder) [SNOMED CT concept]
- Noonan syndrome with multiple lentigines [DO Concept]
- Noonan syndrome with multiple lentigines [ORDO Disease]
- leopard syndrome [Disease (Nov.)]
- multiple lentigines syndrome [SNOMED Notion]
DO Cross reference
- Noonan syndrome with multiple lentigines [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- LEOPARD syndrome [MedDRA LLT]
- LEOPARD syndrome [PASCAL descriptor]
- LEOPARD syndrome [MeSH Descriptor]
- LEOPARD syndrome [MeSH concept]
- Leopard syndrome 1 [OMIM Phenotype]
- Multiple lentigines syndrome [MedDRA Preferred Term]
- Multiple lentigines syndrome (disorder) [SNOMED CT concept]
- Noonan syndrome with multiple lentigines [ORDO Disease]
- Noonan syndrome with multiple lentigines [DO Concept]
- leopard syndrome [Disease (Nov.)]
- multiple lentigines syndrome [SNOMED Notion]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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