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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > LEOPARD Syndrome
Cardiovascular Diseases > Heart Diseases > Heart Defects, Congenital > LEOPARD Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Cardiovascular Abnormalities > Heart Defects, Congenital > LEOPARD Syndrome
Cardiovascular Diseases > Cardiovascular Abnormalities > Heart Defects, Congenital > LEOPARD Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Musculoskeletal Abnormalities > Craniofacial Abnormalities > LEOPARD Syndrome
Musculoskeletal Diseases > Musculoskeletal Abnormalities > Craniofacial Abnormalities > LEOPARD Syndrome
Cardiovascular Diseases > Heart Diseases > Ventricular Outflow Obstruction > Pulmonary Valve Stenosis > LEOPARD Syndrome
Cardiovascular Diseases > Heart Diseases > Heart Valve Diseases > Pulmonary Valve Stenosis > LEOPARD Syndrome
... > Pathological Conditions, Signs and Symptoms > Pathologic Processes > Pigmentation Disorders > Hyperpigmentation > Melanosis > Lentigo > LEOPARD Syndrome
... > Skin and Connective Tissue Diseases > Skin Diseases > Pigmentation Disorders > Hyperpigmentation > Melanosis > Lentigo > LEOPARD Syndrome

Preferred term

LEOPARD Syndrome  

Type

  • Topical Descriptor

Broader concept

Related concepts

Entry terms

  • Cardio Cutaneous Syndrome
  • Cardio-Cutaneous Syndrome
  • Cardio-Cutaneous Syndromes
  • Cardiomyopathic Lentiginoses
  • Cardiomyopathic Lentiginoses, Progressive
  • Cardiomyopathic Lentiginosis
  • Cardiomyopathic, Lentiginosis
  • Cardiomyopathic Lentiginosis, Progressive
  • Cardiomyopathics, Lentiginosis
  • Lentigines Syndrome, Multiple
  • Lentigines Syndromes, Multiple
  • Lentiginoses, Cardiomyopathic
  • Lentiginoses, Progressive Cardiomyopathic
  • Lentiginosis Cardiomyopathic
  • Lentiginosis, Cardiomyopathic
  • Lentiginosis Cardiomyopathics
  • Lentiginosis, Progressive Cardiomyopathic
  • Multiple Lentigines Syndrome
  • Multiple Lentigines Syndromes
  • Noonan Syndrome with Multiple Lentigines
  • Progressive Cardiomyopathic Lentiginoses
  • Progressive Cardiomyopathic Lentiginosis
  • Syndrome, Cardio-Cutaneous
  • Syndrome, Multiple Lentigines
  • Syndromes, Cardio-Cutaneous
  • Syndromes, Multiple Lentigines

Scope note

  • 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.

History note

  • 2004; use NEUROFIBROMATOSIS 1 2002 -2003

In other languages

URI

http://www.yso.fi/onto/mesh/D044542

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