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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 the FLVCR2 gene 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 choline and putative heme transporter 2 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:225790
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
CTD
MouseDO
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 18969
    syndrome 10889
      proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        Congenital Abnormalities 7583
          Nervous System Malformations 2383
            neural tube defect 136
              anencephaly 21
                hydranencephaly 5
                  proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome 1
paths to the root