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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 Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, OCULAR-SCOLIOTIC TYPE ClinVar NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145 		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, OCULAR-SCOLIOTIC TYPE
ClinVar Annotator: match by OMIM:225400
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:222849 PMID:416188 PMID:1345174 PMID:3110540 PMID:3931636 PMID:4373475 PMID:5016372 PMID:6089551 PMID:7977351 PMID:8163671 PMID:8449506 PMID:8533783 PMID:8574422 PMID:8981946 PMID:9152832 PMID:9220536 PMID:9450904 PMID:9617436 PMID:9893157 PMID:10329027 PMID:10874315 PMID:11001813 PMID:14565595 PMID:15666309 PMID:15979919 PMID:16758144 PMID:19320026 PMID:21699693 PMID:22001912 PMID:25277362 PMID:25326635 PMID:25637337 PMID:25741868 PMID:28384719 PMID:28492532 NCBI chr 5:164,720,629...164,747,071
Ensembl chr 5:164,720,587...164,747,083 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      Ehlers-Danlos syndrome 104
        Ehlers-Danlos syndrome kyphoscoliotic type 1 2
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      Hemic and Lymphatic Diseases 2075
        hematopoietic system disease 1659
          blood coagulation disease 627
            hemorrhagic disease 614
              vascular hemostatic disease 298
                Ehlers-Danlos syndrome 104
                  Ehlers-Danlos syndrome kyphoscoliotic type 1 2
paths to the root