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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 classic-like 2
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Accession:DOID:0080732 term browser browse the term
Definition:An Ehlers-Danlos syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the AEBP1 gene on chromosome 7p13 and that is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. (DO)
Synonyms:exact_synonym: EDSCLL2
 primary_id: MIM:618000


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Ehlers-Danlos syndrome classic-like 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aebp1 AE binding protein 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic-like, 2 OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:27023906 PMID:28492532 PMID:29606302 More... NCBI chr11:5,806,085...5,822,248
Ensembl chr11:5,811,947...5,822,088 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16234
    syndrome 10776
      Ehlers-Danlos syndrome 257
        Ehlers-Danlos syndrome classic-like 2 1
Path 2
Term Annotations click to browse term
  disease 16234
    Pathological Conditions, Signs and Symptoms 12645
      Signs and Symptoms 10527
        Neurologic Manifestations 10183
          sensory system disease 7146
            skin disease 4172
              Skin Abnormalities 1318
                Ehlers-Danlos syndrome 257
                  Ehlers-Danlos syndrome classic-like 2 1
paths to the root