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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 musculocontractural type 1
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Accession:DOID:0080736 term browser browse the term
Definition:An Ehlers-Danlos syndrome that is characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the CHST14 gene on chromosome 15q14. (DO)
Synonyms:exact_synonym: ATCS;   Dundar syndrome;   EDS6B (formerly);   EDSMC;   EDSMC1;   Ehlers-Danlos syndrome, type VIB (formerly);   adducted thumb, clubfoot, and progressive joint and skin laxity syndrome;   adducted thumb-clubfoot syndrome;   adducted thumbs Dundar type;   distal arthrogryposis with peculiar facies and hydronephrosis
 primary_id: MESH:C000600608
 alt_id: OMIM:601776
 xref: NCI:C168975
For additional species annotation, visit the Alliance of Genome Resources.


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Ehlers-Danlos syndrome musculocontractural type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chst14 carbohydrate sulfotransferase 14 ISO ClinVar Annotator: match by OMIM:601776
ClinVar Annotator: match by term: Adducted Thumb-Clubfoot Syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1184396, PMID:9084938, PMID:10766984, PMID:11370633, PMID:12508273, PMID:16158441, PMID:20004762, PMID:20503305, PMID:20533528, PMID:20842734, PMID:21744491, PMID:22581468, PMID:22987394, PMID:25741868, PMID:26373698, PMID:26872206, PMID:26925854, PMID:28238810, PMID:28492532 NCBI chr 3:110,734,105...110,736,162
Ensembl chr 3:110,734,105...110,736,162
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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 musculocontractural type 1 1
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 musculocontractural type 1 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.