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ZIRC
OBO ID: DOID:14291
Term Name: LEOPARD syndrome Search Ontology:
Synonyms:
  • Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome
  • Generalized lentiginosis
  • Gorlin syndrome II
  • Lentiginosis profusa syndrome
  • Moynahan syndrome
  • Multiple lentigines syndrome
  • Noonan syndrome with multiple lentigines
  • Progressive cardiomyopathic lentiginosis
Definition: An autosomal dominant disease that is characterized by brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest and short stature. (2)
References:
Ontology: Human Disease   (DOID:14291)
OTHER LEOPARD syndrome PAGES
GENES INVOLVEDNo data available
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS (4)