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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:Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome
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Accession:DOID:9000950 term browser browse the term
Definition:An autosomal recessive disorder with a highly variable phenotype. Although all patients have polymicrogyria and other variable structural brain anomalies on imaging, only some show developmental delay and/or seizures.
Synonyms:exact_synonym: PMGEDSV;   Polymicrogyria with or without vascular-type EDS
 narrow_synonym: POLYMICROGYRIA WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME
 broad_synonym: COL3A1-RELATED CONDITION
 primary_id: MIM:618343


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    syndrome 11403
      Ehlers-Danlos syndrome 257
        Ehlers-Danlos Syndrome Type 4 4
          vascular type Ehlers-Danlos syndrome 1
            Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      Hemic and Lymphatic Diseases 4328
        hematopoietic system disease 3837
          blood coagulation disease 1445
            hemorrhagic disease 1399
              vascular hemostatic disease 490
                Ehlers-Danlos syndrome 257
                  Ehlers-Danlos Syndrome Type 4 4
                    vascular type Ehlers-Danlos syndrome 1
                      Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome 1
paths to the root