#55 Incontinentia pigmenti


this term is found in Human disease ontology

id: DOID:12305
name: Bloch-Sulzberger syndrome
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Incontinentia pigmenti (disorder)" EXACT [SNOMEDCT_2005_07_31:205567005]
synonym: "Incontinentia pigmenti syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:367520004]
xref: MSH2010_2010_02_22:D007184
xref: OMIM:308300
xref: SNOMEDCT_2010_1_31:205567005
xref: SNOMEDCT_2010_1_31:367520004
xref: SNOMEDCT_2010_1_31:806001
xref: UMLS_CUI:C0021171
is_a: DOID:10123 ! pigmentation disease

Term definition: Incontinentia pigmenti (IP) is an inherited disorder of skin pigmentation that is also associated with abnormalities of the teeth, skeletal system, eyes, and central nervous system. (Ref: http://www.ninds.nih.gov/disorders/incontinentia_pigmenti/incontinentia_pigmenti.htm\)


  • Sujatha

    Sujatha - 2011-06-07
    • assigned_to: nobody --> probins
  • Peter N. Robinson

    The HPO does not intend to describe disease entities but rather phenotypic manifestations. If you want to describe the disease "Incontinentia pigmenti", then it would be appropriate to use the DO term or to refer to OMIM or Orphanet etc. If you need terms to describe the manifestations of Incontinentia pigmenti, please specify more exactly. At least many of them should already be in the HPO.

  • Peter N. Robinson

    • status: open --> closed-rejected

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