Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 OMIM:225790
ClinVar Annotator: match by term: Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
OMIM
ClinVar
PMID:20206334 PMID:20518025 PMID:20690116 PMID:24033266 PMID:25677735 NCBI chr 6:109,617,348...109,681,495
Ensembl chr 6:109,617,355...109,681,495
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    syndrome 7053
      proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome 1
Path 2
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        Congenital Abnormalities 4761
          Nervous System Malformations 1050
            neural tube defect 113
              anencephaly 14
                hydranencephaly 3
                  proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome 1
paths to the root