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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 16023
    syndrome 7003
      Ehlers-Danlos syndrome 104
        Ehlers-Danlos syndrome kyphoscoliotic type 1 2
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      Hemic and Lymphatic Diseases 2067
        hematopoietic system disease 1653
          blood coagulation disease 624
            hemorrhagic disease 611
              vascular hemostatic disease 298
                Ehlers-Danlos syndrome 104
                  Ehlers-Danlos syndrome kyphoscoliotic type 1 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.