ONTOLOGY REPORT - ANNOTATIONS


Term:persistent hyperplastic primary vitreous
go back to main search page
Accession:DOID:0060282 term browser browse the term
Definition:A developmental ocular anomaly in which the primary VITREOUS BODY and its surrounding hyaloid vasculature failed to regress. It is usually unilateral and characterized by CATARACT; MICROPHTHALMOS (small eyeballs), and retrolenticular fibrovascular tissue. (from Yanoff: Ophthalmology, 2nd ed.)
Synonyms:exact_synonym: Persistent Hyaloid Artery;   persistent fetal vasculature syndrome;   persistent hyaloid arteries;   persistent hyaloid vasculature;   persistent hyaloid vasculatures
 primary_id: MESH:D054514
 alt_id: RDO:0007679
 xref: OMIM:PS221900;   ORDO:91495
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
persistent hyperplastic primary vitreous term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atoh7 atonal bHLH transcription factor 7 JBrowse link 20 27,082,961 27,083,410 RGD:13592920
G Cdkn2a cyclin-dependent kinase inhibitor 2A JBrowse link 5 107,823,323 107,832,405 RGD:8552304
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8551891
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atoh7 atonal bHLH transcription factor 7 JBrowse link 20 27,082,961 27,083,410 RGD:7240710
RGD:8554872
G Tspan12 tetraspanin 12 JBrowse link 4 48,852,823 48,953,240 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    sensory system disease 4246
      eye and adnexa disease 1985
        eye disease 1985
          Eye Abnormalities 283
            persistent hyperplastic primary vitreous 4
              Persistent Hyperplastic Primary Vitreous, Autosomal Dominant 0
              Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 2
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          eye and adnexa disease 1985
            eye adnexa disease 124
              eyelid disease 70
                vitreous disease 20
                  persistent hyperplastic primary vitreous 4
                    Persistent Hyperplastic Primary Vitreous, Autosomal Dominant 0
                    Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 2
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.