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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:persistent hyperplastic primary vitreous
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Accession:DOID:0060282 term browser browse the term
Definition:A developmental vitreous disease that is characterized by leukocoria, strabismus and vision loss, caused by failure of primary vitreous and hyaloid vasculature to regress during embryological development. (DO)
Synonyms:exact_synonym: Persistent Hyaloid Artery;   persistent fetal vasculature syndrome;   persistent hyaloid arteries;   persistent hyaloid vasculature;   persistent hyaloid vasculatures
 primary_id: MESH:D054514
 xref: NCI:C161554;   OMIM:PS221900;   ORDO:91495
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
persistent hyperplastic primary vitreous term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO RGD PMID:16620915 RGD:8552304 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
JBrowse link
G Ndp norrin cystine knot growth factor NDP ISO ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous ClinVar PMID:25741868 NCBI chr  X:5,796,487...5,820,934
Ensembl chr  X:5,796,487...5,820,934
JBrowse link
G Pax6 paired box 6 ISO DNA:snp:cds:pN64K (mouse) RGD PMID:19345209 RGD:8551891 NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
JBrowse link
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atoh7 atonal bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous, autosomal recessive OMIM
ClinVar
PMID:9677055 PMID:11527934 PMID:21441919 PMID:21474777 PMID:22068589 More... NCBI chr20:25,530,826...25,531,275
Ensembl chr20:25,530,826...25,531,275
JBrowse link
G Tspan12 tetraspanin 12 ISO ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous, autosomal recessive ClinVar PMID:25250762 NCBI chr 4:50,313,768...50,389,246
Ensembl chr 4:50,313,772...50,389,246
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    sensory system disease 6575
      eye disease 2996
        Eye Abnormalities 475
          persistent hyperplastic primary vitreous 5
            Persistent Hyperplastic Primary Vitreous, Autosomal Dominant 0
            Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 2
Path 2
Term Annotations click to browse term
  disease 18256
    Pathological Conditions, Signs and Symptoms 12646
      Signs and Symptoms 10117
        Neurologic Manifestations 9338
          sensory system disease 6575
            eye disease 2996
              eyelid disease 104
                vitreous disease 21
                  persistent hyperplastic primary vitreous 5
                    Persistent Hyperplastic Primary Vitreous, Autosomal Dominant 0
                    Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 2
paths to the root