ONTOLOGY REPORT - ANNOTATIONS


Term:Winkelman Bethge Pfeiffer Syndrome
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Accession:DOID:9004924 term browser browse the term
Synonyms:exact_synonym: CPHD3;   Pituitary Hormone Deficiency, Combined, 3;   Pituitary Hormone Deficiency, Combined, With Rigid Cervical Spine;   Sensorineural deafness with Pituitary dwarfism
 primary_id: MESH:C536710;   RDO:0002369
 alt_id: OMIM:221750
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Winkelman Bethge Pfeiffer Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lhx3 LIM homeobox 3 JBrowse link 3 3,653,861 3,662,509 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
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  disease 14875
    syndrome 4220
      Winkelman Bethge Pfeiffer Syndrome 1
Path 2
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  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            thalamic disease 196
              hypothalamic disease 196
                pituitary gland disease 157
                  hypopituitarism 42
                    isolated growth hormone deficiency 28
                      Winkelman Bethge Pfeiffer Syndrome 1
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