FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term autosomal recessive cutis laxa type III ID (Ontology) DOID:0070143 (Human Disease)
Definition 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.
Also Known As "cutis laxa-corneal clouding-intellectual disability syndrome" ; "De Barsy syndrome"
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Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
skin disease                     |
 |__cutis laxa___________________|
                                 autosomal recessive cutis laxa type III  3 rec.
                                  |__autosomal recessive cutis laxa type IIIA 1 rec.
                                  |__autosomal recessive cutis laxa type IIIB 2 rec.
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Is a autosomal recessive disease
cutis laxa
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Synonyms
  • "cutis laxa-corneal clouding-intellectual disability syndrome" EXACT
    "De Barsy syndrome" EXACT
Secondary IDs
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GARD:49
MESH:C535990
ORDO:2962
SNOMEDCT_US_2023_03_01:238826008
UMLS_CUI:C0268354