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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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;   IP;   IP2;   Incontinentia pigmenti syndrome;   incontinentia pigmenti;   incontinentia pigmenti, familial male-lethal type;   incontinentia pigmenti, type II
 narrow_synonym: INCONTINENTIA PIGMENTI, ATYPICAL;   incontinentia pigmenti, type II, atypical
 primary_id: MESH:D007184
 alt_id: MESH:C531716;   OMIM:308300
 xref: EFO:1000672;   ICD10CM:Q82.3;   MONDO:0010631;   NCI:C84787
For additional species annotation, visit the Alliance of Genome Resources.


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Bloch-Sulzberger syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO
ISS		 ClinVar Annotator: match by term: Incontinentia pigmenti syndrome
DNA:deletion:exons:
CTD Direct Evidence: marker/mechanism
OMIM:308300		 ClinVar
OMIM
CTD
MouseDO
RGD		 PMID:11590134 PMID:18222329 PMID:18350553 PMID:19656162 PMID:24339369 More... RGD:1600008, RGD:12791266 NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499 		JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISS OMIM:308300 MouseDO NCBI chr  X:150,775,034...150,807,161
Ensembl chr  X:150,775,080...150,807,142 		JBrowse link
hypomelanosis of Ito term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Incontinentia pigmenti syndrome ClinVar PMID:11590134 PMID:18222329 PMID:18350553 PMID:19656162 PMID:24339369 More... NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13343
      Pathologic Processes 7990
        pigmentation disease 278
          Bloch-Sulzberger syndrome 2
            hypomelanosis of Ito 1
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13343
      Signs and Symptoms 10819
        Neurologic Manifestations 10053
          sensory system disease 6962
            skin disease 3969
              Genetic Skin Diseases 1853
                Bloch-Sulzberger syndrome 2
                  hypomelanosis of Ito 1
paths to the root