Related MeSH Hierarchy (8)
Diseases [C] » Skin and Connective Tissue Diseases [C17] » Skin Diseases » Pigmentation Disorders » Hyperpigmentation » Melanosis » Lentigo » LEOPARD Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Congenital Abnormalities » Musculoskeletal Abnormalities » Craniofacial Abnormalities » LEOPARD Syndrome
Diseases [C] » Musculoskeletal Diseases [C05] » Musculoskeletal Abnormalities » Craniofacial Abnormalities » LEOPARD Syndrome
Diseases [C] » Cardiovascular Diseases [C14] » Cardiovascular Abnormalities » Heart Defects, Congenital » LEOPARD Syndrome
Diseases [C] » Cardiovascular Diseases [C14] » Heart Diseases » Heart Defects, Congenital » LEOPARD Syndrome
Diseases [C] » Cardiovascular Diseases [C14] » Heart Diseases » Heart Valve Diseases » Pulmonary Valve Stenosis » LEOPARD Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Congenital Abnormalities » Abnormalities, Multiple » LEOPARD Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Congenital Abnormalities » Cardiovascular Abnormalities » Heart Defects, Congenital » LEOPARD Syndrome
Description
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
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