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DO Term : Noonan syndrome with multiple lentigines [DOID:14291] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A RASopathy 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.
  • synonyms:
  • SNOMEDCT_US_2023_03_01:111306001,
  • LEOPARD syndrome,
  • OMIM:PS151100,
  • Progressive cardiomyopathic lentiginosis,
  • NCI:C84820,
  • Gorlin syndrome II,
  • MESH:D044542,
  • GARD:1100,
  • Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome,
  • UMLS_CUI:C0175704,
  • ORDO:500,
  • Lentiginosis profusa syndrome,
  • Multiple lentigines syndrome,
  • Moynahan syndrome,
  • PS151100,
  • Generalized lentiginosis
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents