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DO Term : autosomal recessive cutis laxa type III [DOID:0070143] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A cutis laxa characterized by a progeria-like appearance, ophthalmologic abnormalities, large and late-closing fontanel, joint hyperlaxity, athetoid movements, hyperreflexia, growth retardation, intellectual deficit, developmental delay, corneal clouding, and cataract.
  • synonyms:
  • cutis laxa-corneal clouding-intellectual disability syndrome,
  • MESH:C535990,
  • ORDO:2962,
  • De Barsy syndrome,
  • UMLS_CUI:C0268354,
  • GARD:49,
  • SNOMEDCT_US_2023_03_01:238826008
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Disease

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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents