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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, Autosomal Recessive
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Accession:DOID:9005204 term browser browse the term
Synonyms:exact_synonym: ATOH7-RELATED CONDITION;   NCRNA;   PHPVAR;   RNANC;   congenital detachment of retina;   nonsyndromic congenital retinal nonattachment;   persistent fetal vasculature;   retinal nonattachment and falciform detachment
 primary_id: MESH:C566966
 alt_id: MESH:C565633;   MESH:C566717;   MIM:221900



show annotations for term's descendants           Sort by:
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
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 PMID:25741868 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 19141
    sensory system disease 7375
      eye disease 3722
        Hereditary Eye Diseases 1130
          Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 2
Path 2
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      nervous system disease 14360
        Neurologic Manifestations 10450
          sensory system disease 7375
            eye disease 3722
              eyelid disease 116
                vitreous disease 24
                  persistent hyperplastic primary vitreous 6
                    Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 2
paths to the root