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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


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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 CLCN6 chloride voltage-gated channel 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 ClinVar PMID:28492532 NCBI chr 2:84,410,740...84,443,874
Ensembl chr 2:84,413,612...84,445,033 		JBrowse link
G KIAA2013 KIAA2013 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 ClinVar PMID:28492532 NCBI chr 2:84,349,640...84,355,645
Ensembl chr 2:84,349,330...84,355,645 		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 PMID:28492532 NCBI chr 2:84,284,719...84,310,715
Ensembl chr 2:84,284,719...84,308,225 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 ClinVar PMID:28492532 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818 		JBrowse link
G NPPA natriuretic peptide A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 ClinVar PMID:28492532 NCBI chr 2:84,406,317...84,408,115
Ensembl chr 2:84,396,073...84,408,385 		JBrowse link
G NPPB natriuretic peptide B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 ClinVar PMID:28492532 NCBI chr 2:84,395,844...84,397,473 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 | ClinVar Annotator: match by term: Nevo syndrome OMIM
ClinVar		 PMID:222849 PMID:416188 PMID:1345174 PMID:3110540 PMID:3931636 More... NCBI chr 2:84,320,529...84,343,562
Ensembl chr 2:84,320,529...84,343,562 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    syndrome 10062
      Ehlers-Danlos syndrome 252
        Ehlers-Danlos syndrome kyphoscoliotic type 1 7
Path 2
Term Annotations click to browse term
  disease 17774
    Pathological Conditions, Signs and Symptoms 12020
      Signs and Symptoms 9897
        Neurologic Manifestations 9572
          sensory system disease 6587
            skin disease 3751
              Skin Abnormalities 1281
                Ehlers-Danlos syndrome 252
                  Ehlers-Danlos syndrome kyphoscoliotic type 1 7
paths to the root