Search Ontology:
Human Disease
autosomal recessive cutis laxa type III
- Term ID
- DOID:0070143
- Synonyms
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- cutis laxa-corneal clouding-intellectual disability syndrome
- De Barsy syndrome
- 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. https://www.ncbi.nlm.nih.gov/pubmed/18388779
- References
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- GARD:49
- MESH:C535990
- ORDO:2962
- SNOMEDCT_US_2023_03_01:238826008
- UMLS_CUI:C0268354
- Ontology
- Human Disease ( DOID:0070143 )
- is a type of
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- has subtype
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Genes Involved
Zebrafish Models