Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
autosomal recessive cutis laxa type III
Summary
- Synonym
-
- De Barsy syndrome
- cutis laxa-corneal clouding-intellectual disability 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.
- Super Class
- autosomal recessive disease cutis laxa
External Links
- Disease Ontology
- DOID:0070143
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- GARD
