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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 2
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Accession:DOID:0080735 term browser browse the term
Definition:An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine and that has_material_basis_in homozygous or compound heterozygous mutation in the FKBP14 gene on chromosome 7p15. (DO)
Synonyms:exact_synonym: EDSKMH;   EDSKSCL2;   Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss
 primary_id: OMIM:614557
For additional species annotation, visit the Alliance of Genome Resources.


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Ehlers-Danlos syndrome kyphoscoliotic type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkbp14 FKBP prolyl isomerase 14 ISO ClinVar Annotator: match by OMIM:614557
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
OMIM
ClinVar
PMID:22265013, PMID:24677762, PMID:24773188, PMID:25741868, PMID:27149304, PMID:28492532, PMID:28617417, PMID:30311386, PMID:31132235 NCBI chr 4:84,753,628...84,768,314
Ensembl chr 4:84,753,633...84,768,249
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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 2 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      musculoskeletal system disease 5757
        connective tissue disease 4103
          bone disease 3534
            spinal disease 1461
              bone structure disease 103
                Spinal Curvatures 75
                  Kyphosis 25
                    Kyphoscoliosis 14
                      Ehlers-Danlos syndrome kyphoscoliotic type 2 1
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.