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RGD DISEASE ONTOLOGY - ANNOTATIONS

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.

Term:Ehlers-Danlos syndrome kyphoscoliotic type 1
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Accession:DOID:0080734 term browser browse the term
Definition: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\nand 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, HYDROXYLYSINE-DEFICIENT;   EHLERS-DANLOS SYNDROME, OCULAR-SCOLIOTIC TYPE;   Ehlers-Danlos Syndrome Type 6;   Ehlers-Danlos Syndrome, Type VI;   Ehlers-Danlos Syndrome, Type VIA;   Ehlers-Danlos syndrome, kyphoscoliotic type;   Ehlers-Danlos syndrome, oculoscoliotic type;   Ehlers-Danlos syndrome, type 6 A;   Nevo syndrome;   cerebral gigantism nevo type
 primary_id: OMIM:225400
 alt_id: MESH:C536113;   MESH:C536198
For additional species annotation, visit the Alliance of Genome Resources.



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Ehlers-Danlos syndrome kyphoscoliotic type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kiaa2013 KIAA2013 homolog ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 ClinVar PMID:28492532 NCBI chr 5:158,371,925...158,378,195
Ensembl chr 5:158,371,955...158,378,195
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, hydroxylysine-deficient | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 ClinVar NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
JBrowse link
G Nppa natriuretic peptide A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 ClinVar PMID:28492532 NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
JBrowse link
G Nppb natriuretic peptide B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 ClinVar PMID:28492532 NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO 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
OMIM
ClinVar
CTD
PMID:222849 PMID:416188 PMID:1345174 PMID:3110540 PMID:3931636 More... NCBI chr 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    syndrome 9705
      Ehlers-Danlos syndrome 226
        Ehlers-Danlos syndrome kyphoscoliotic type 1 5
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      Hemic and Lymphatic Diseases 3313
        hematopoietic system disease 2848
          blood coagulation disease 843
            hemorrhagic disease 812
              vascular hemostatic disease 439
                Ehlers-Danlos syndrome 226
                  Ehlers-Danlos syndrome kyphoscoliotic type 1 5
paths to the root