RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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. (DO)
Synonyms:
exact_synonym:
De Barsy Moens Diercks syndrome; De Barsy syndrome; corneal clouding, cutis laxa, mental retardation; cutis laxa, corneal clouding, and mental retardation; cutis laxa-corneal clouding-intellectual disability syndrome; progeroid syndrome of De Barsy
DNA:deletions:cds: DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human) ClinVar Annotator: match by term: Corneal clouding cutis laxa mental retardation | ClinVar Annotator: match by term: Progeroid syndrome of De Barsy | ClinVar Annotator: match by term: de Barsy syndrome
DNA:mutations:cds:c.2246G>A(p.R749Q),c.2294G>A(p.R765Q)(human) ClinVar Annotator: match by term: Cutis laxa-corneal clouding-oligophrenia syndrome | ClinVar Annotator: match by term: DE BARSY SYNDROME A
ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB | ClinVar Annotator: match by term: DE BARSY SYNDROME B | ClinVar Annotator: match by term: PYCR1-related condition