ONTOLOGY REPORT - ANNOTATIONS


Term:Ehlers-Danlos Syndrome, Musculocontractural Type 1
go back to main search page
Accession:DOID:9000161 term browser browse the term
Synonyms:exact_synonym: ADDUCTED THUMB, CLUBFOOT, AND PROGRESSIVE JOINT AND SKIN LAXITY SYNDROME;   ATCS;   Adducted Thumb-Clubfoot Syndrome;   Adducted thumbs Dundar type;   DUNDAR SYNDROME;   EDS6B (formerly);   EDSMC;   EDSMC1;   Ehlers-Danlos syndrome, type VIB (formerly);   distal arthrogryposis with peculiar facies and hydronephrosis
 primary_id: MESH:C000600608
 alt_id: OMIM:601776;   RDO:0008832;   RDO:0016006
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
Ehlers-Danlos Syndrome, Musculocontractural Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chst14 carbohydrate sulfotransferase 14 JBrowse link 3 110,734,105 110,736,162 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14926
    syndrome 4715
      Ehlers-Danlos syndrome 38
        Ehlers-Danlos Syndrome, Musculocontractural Type 1 1
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      Hemic and Lymphatic Diseases 1591
        hematopoietic system disease 1375
          blood coagulation disease 392
            hemorrhagic disease 378
              vascular hemostatic disease 184
                Ehlers-Danlos syndrome 38
                  Ehlers-Danlos Syndrome, Musculocontractural Type 1 1
paths to the root

NHLBI Logo

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