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ONTOLOGY REPORT - ANNOTATIONS


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: DOID:9007487;   OMIM:261540;   RDO:0003489
 xref: GARD:8422
For additional species annotation, visit the Alliance of Genome Resources.


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Peters plus syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3glct beta 3-glucosyltransferase JBrowse link 12 6,403,118 6,476,010 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    syndrome 5131
      Peters plus syndrome 1
Path 2
Term Annotations click to browse term
  disease 15590
    Developmental Diseases 8723
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7503
        Congenital Abnormalities 3574
          Musculoskeletal Abnormalities 1294
            Craniofacial Abnormalities 1039
              Maxillofacial Abnormalities 208
                Jaw Abnormalities 205
                  orofacial cleft 115
                    cleft lip 50
                      Peters plus syndrome 1
paths to the root

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