Passer au contenu principal

Medical Subject Headings (thesaurus)

Choisissez le vocabulaire dans lequel chercher

aligner
annoter
télécharger

Concept information

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
Musculoskeletal Diseases > Musculoskeletal Abnormalities > Craniofacial Abnormalities > LEOPARD Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Musculoskeletal Abnormalities > Craniofacial Abnormalities > LEOPARD Syndrome
Cardiovascular Diseases > Heart Diseases > Heart Valve Diseases > Pulmonary Valve Stenosis > LEOPARD Syndrome
Cardiovascular Diseases > Heart Diseases > Ventricular Outflow Obstruction > 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

Terme préférentiel

LEOPARD Syndrome  

Type

  • mesh:Descriptor

Définition

  • 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.

Concept générique

Concepts associés

Synonyme(s)

  • Cardio-Cutaneous Syndrome
  • Cardiomyopathic Lentiginosis
  • Lentiginosis Cardiomyopathic
  • Multiple Lentigines Syndrome
  • Noonan Syndrome with Multiple Lentigines
  • Progressive Cardiomyopathic Lentiginosis

Qualificatif(s) autorisé(s)

Traductions

  • Syndrome LEOPARD

    français

  • Lentiginose cardiomyopathique
  • Syndrome des lentigines multiples

URI

http://data.loterre.fr/ark:/67375/JVR-LM2WLBTP-3

Télécharger ce concept :

RDF/XML TURTLE JSON-LD Date de création 09/07/2003, dernière modification le 05/07/2019