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ONTOLOGY REPORT - ANNOTATIONS


Term:Bloch-Sulzberger syndrome
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Accession:DOID:12305 term browser browse the term
Definition:A genodermatosis occurring mostly in females and characterized by skin changes in three phases - vesiculobullous, verrucous papillomatous, and macular melanodermic. Hyperpigmentation is bizarre and irregular. Sixty percent of patients have abnormalities of eyes, teeth, central nervous system, and skin appendages.
Synonyms:exact_synonym: Bloch-Siemens Syndrome;   Bloch-Siemens-Sulzberger Syndrome;   INCONTINENTIA PIGMENTI, TYPE II;   IP;   IP2;   Incontinentia pigmenti;   Incontinentia pigmenti syndrome;   incontinentia pigmenti, familial male-lethal type
 narrow_synonym: INCONTINENTIA PIGMENTI, ATYPICAL;   INCONTINENTIA PIGMENTI, TYPE II, ATYPICAL
 primary_id: MESH:C531716;   MESH:D007184
 alt_id: OMIM:308300;   RDO:0000130;   RDO:0000131
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Bloch-Sulzberger syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ikbkg inhibitor of nuclear factor kappa B kinase subunit gamma JBrowse link X 156,254,187 156,280,046 RGD:1600008
RGD:8554872
RGD:7240710
RGD:12791266
hypomelanosis of Ito term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ikbkg inhibitor of nuclear factor kappa B kinase subunit gamma JBrowse link X 156,254,187 156,280,046 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    sensory system disease 4231
      skin disease 2240
        Skin Abnormalities 340
          Bloch-Sulzberger syndrome 1
            hypomelanosis of Ito 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        sensory system disease 4231
          skin disease 2240
            Skin Abnormalities 340
              Bloch-Sulzberger syndrome 1
                hypomelanosis of Ito 1
paths to the root