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.
An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lysyl hydroxylase (PLOD1) on chromosome 1p36. (DO)
Synonyms:
exact_synonym:
EDS VI; EDS6; EDS6A; EHLERS-DANLOS SYNDROME, OCULAR-SCOLIOTIC TYPE; Ehlers-Danlos Syndrome Type 6; Ehlers-Danlos Syndrome, Type VI; Ehlers-Danlos syndrome, hydroxylysine-deficient; Ehlers-Danlos syndrome, kyphoscoliotic type; Ehlers-Danlos syndrome, oculoscoliotic type; Ehlers-Danlos syndrome, type 6 A; Ehlers-Danlos syndrome, type VIA; Nevo syndrome; cerebral gigantism nevo type
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, hydroxylysine-deficient | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ehlers-Danlos syndrome, hydroxylysine-deficient | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 | ClinVar Annotator: match by term: Nevo syndrome ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, OCULAR-SCOLIOTIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, hydroxylysine-deficient | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1
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