loading...| Preferred Name |
LEOPARD Syndrome |
|
| Synonyms |
Lentigines, Electrocardiographic Conduction Defects, Ocular Hypertelorism, Pulmonary Stenosis, Abnormalities of the Genitals, Retarded Growth, Deafness LEOPARD Syndrome Multiple Lentigines Syndrome |
|
| Definitions |
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. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84820 |
|
| ALT_DEFINITION |
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. |
|
| code |
C84820 |
|
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177281 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118467 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177516 |
|
| Contributing_Source |
Cellosaurus CCPS NICHD |
|
| 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. |
|
| FULL_SYN |
Lentigines, Electrocardiographic Conduction Defects, Ocular Hypertelorism, Pulmonary Stenosis, Abnormalities of the Genitals, Retarded Growth, Deafness LEOPARD Syndrome Multiple Lentigines Syndrome |
|
| label |
LEOPARD Syndrome |
|
| Preferred_Name |
LEOPARD Syndrome |
|
| prefixIRI |
Thesaurus:C84820 |
|
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C0175704 |
|
| subClassOf |