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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 14759
    syndrome 4210
      Peters plus syndrome 1
Path 2
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        Congenital Abnormalities 3137
          Musculoskeletal Abnormalities 1185
            Craniofacial Abnormalities 945
              Maxillofacial Abnormalities 199
                Jaw Abnormalities 196
                  orofacial cleft 108
                    cleft lip 50
                      Peters plus syndrome 1
paths to the root