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LEOPARD syndrome

Go to external page http://purl.obolibrary.org/obo/DOID_14291

A syndrome that is characterized by autosomal dominant inheritance of brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest and short stature. [ http://purl.obolibrary.org/obo/ECO_0007637 ]

Term info

Label

LEOPARD syndrome

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
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Subsets

NCIthesaurus

comment

OMIM mapping confirmed by DO. [SN].

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disease_ontology

id

DOID:14291