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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


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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 CTD Direct Evidence: marker/mechanism
DNA:missense mutations, deletion:CDS:multiple (human)
DNA:frameshift mutations, missense mutations:CDS:multiple (human)
ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, WITH PECULIAR FACIES AND HYDRONEPHROSIS | ClinVar Annotator: match by term: Adducted Thumb-Clubfoot Syndrome | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 1		 OMIM
CTD
ClinVar
RGD		 PMID:1184396 PMID:2202212 PMID:9084938 PMID:10766984 PMID:11370633 More... RGD:155663488, RGD:11061906 NCBI chr 3:105,916,481...105,918,538
Ensembl chr 3:105,916,466...105,918,548 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10886
      Ehlers-Danlos syndrome 253
        Ehlers-Danlos syndrome musculocontractural type 1 1
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13342
      Signs and Symptoms 10818
        Neurologic Manifestations 10052
          sensory system disease 6960
            skin disease 3969
              Skin Abnormalities 1298
                Ehlers-Danlos syndrome 253
                  Ehlers-Danlos syndrome musculocontractural type 1 1
paths to the root