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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
 primary_id: OMIM:618343
For additional species annotation, visit the Alliance of Genome Resources.


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Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL3A1 collagen type III alpha 1 chain IAGP ClinVar Annotator: match by term: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME
ClinVar Annotator: match by term: Polymicrogyria with or without vascular-type ehlers-danlos syndrome
OMIM
ClinVar
PMID:9050868 PMID:11577371 PMID:19455184 PMID:25205403 PMID:25741868 PMID:25758994 PMID:28258187 PMID:28492532 PMID:28742248 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19890
    syndrome 8478
      Ehlers-Danlos syndrome 129
        Ehlers-Danlos Syndrome Type 4 8
          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 19890
    Developmental Disease 13316
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 10559
        genetic disease 10042
          monogenic disease 7617
            autosomal genetic disease 6524
              autosomal dominant disease 4398
                complex cortical dysplasia with other brain malformations 1252
                  Malformations of Cortical Development, Group III 23
                    Polymicrogyria 15
                      Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome 1
paths to the root