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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:Peters plus syndrome
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Accession:DOID:0080201 term browser browse the term
Definition:A syndrome that is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip/palate, and variable developmental delay/intellectual disability. (DO)
Synonyms:exact_synonym: Krause-Kivlin syndrome;   Krause-Van Schooneveld-Kivlin syndrome;   Peters anomaly with short limb dwarfism;   Peters anomaly-short limb dwarfism syndrome
 primary_id: MESH:C537617
 alt_id: OMIM:261540
 xref: GARD:8422;   NCI:C123436
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Peters plus syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3glct beta 3-glucosyltransferase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Peters plus syndrome
OMIM
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:16909395 PMID:17576681 PMID:18199743 More... NCBI chr12:5,255,521...5,346,998
Ensembl chr12:5,255,740...5,346,810
JBrowse link
G Fgf8 fibroblast growth factor 8 ISO ClinVar Annotator: match by term: Peters plus syndrome ClinVar PMID:25741868 PMID:29584859 NCBI chr 1:244,584,477...244,590,359
Ensembl chr 1:244,584,652...244,590,359
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    syndrome 9746
      Peters plus syndrome 2
Path 2
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      nervous system disease 13208
        sensory system disease 6435
          eye disease 2964
            corneal disease 209
              sclerocornea 32
                anterior segment dysgenesis 29
                  anterior segment dysgenesis 5 16
                    Peters anomaly 16
                      Peters plus syndrome 2
paths to the root