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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:proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
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Accession:DOID:0111666 term browser browse the term
Definition:A syndrome characterized by hydranencephaly, glomeruloid vasculopathy of the central nervous system and retinal vessels, diffuse clastic ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications, and fetal akinesia with arthrogryposis that has_material_basis_in homozygous or compound heterozygous mutation in FLVCR2 on chromosome 14q24.3. (DO)
Synonyms:exact_synonym: EPV;   Fowler syndrome;   Fowler vasculopathy;   Hydranencephaly, Fowler Type;   PVHH;   cerebral proliferative glomeruloid vasculopathy;   encephaloclastic proliferative vasculopathy;   hydrocephaly-hydranencephaly due to cerebral vasculopathy;   proliferative vasculopathy and hydranencephaly/hydrocephaly
 primary_id: MESH:C565593
 alt_id: OMIM:225790
 xref: ORDO:221126


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proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flvcr2 FLVCR heme transporter 2 ISO ClinVar Annotator: match by term: Fowler syndrome | ClinVar Annotator: match by term: HYDROCEPHALY/HYDRANENCEPHALY DUE TO CEREBRAL VASCULOPATHY | ClinVar Annotator: match by term: Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome OMIM
ClinVar		 PMID:19635601 PMID:20206334 PMID:20518025 PMID:20690116 PMID:24033266 More... NCBI chr 6:105,408,355...105,472,355
Ensembl chr 6:105,408,339...105,472,353 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21089
    syndrome 10784
      proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome 1
Path 2
Term Annotations click to browse term
  disease 21089
    Developmental Disease 18391
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18246
        Congenital Abnormalities 7506
          Nervous System Malformations 2355
            neural tube defect 129
              anencephaly 19
                hydranencephaly 4
                  proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome 1
paths to the root