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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:autosomal recessive type IV Ehlers-Danlos syndrome
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Accession:DOID:14759 term browser browse the term
Definition:An Ehlers-Danlos syndrome that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits. (DO)
Synonyms:exact_synonym: Ehlers-Danlos syndrome, recessive type 4
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    syndrome 10168
      Ehlers-Danlos syndrome 257
        Ehlers-Danlos Syndrome Type 4 4
          autosomal recessive type IV Ehlers-Danlos syndrome 0
Path 2
Term Annotations click to browse term
  disease 17996
    Pathological Conditions, Signs and Symptoms 12035
      Signs and Symptoms 9967
        Neurologic Manifestations 9644
          sensory system disease 6626
            skin disease 3772
              Genetic Skin Diseases 1835
                Ehlers-Danlos syndrome 257
                  Ehlers-Danlos Syndrome Type 4 4
                    autosomal recessive type IV Ehlers-Danlos syndrome 0
paths to the root