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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;   INCONTINENTIA PIGMENTI, TYPE II;   IP;   IP2;   Incontinentia pigmenti syndrome;   incontinentia pigmenti;   incontinentia pigmenti, familial male-lethal type
 narrow_synonym: INCONTINENTIA PIGMENTI, ATYPICAL;   INCONTINENTIA PIGMENTI, TYPE II, ATYPICAL
 primary_id: MESH:D007184
 alt_id: MESH:C531716;   OMIM:308300
 xref: ICD10CM:Q82.3;   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 G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: INCONTINENTIA PIGMENTI, TYPE II ClinVar PMID:25741868 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Incontinentia pigmenti syndrome
ClinVar Annotator: match by term: Incontinentia pigmenti, atypical
ClinVar Annotator: match by term: INCONTINENTIA PIGMENTI, TYPE II
ClinVar Annotator: match by OMIM:308300
DNA:deletion:exons:		 ClinVar
OMIM		 PMID:8169255, PMID:9450877, PMID:10839543, PMID:11047757, PMID:11179023, PMID:11224521, PMID:11242109, PMID:11484156, PMID:11590134, PMID:18350553, PMID:20412081, PMID:20499091, PMID:25741868, PMID:27368913, PMID:30422821, PMID:31965418, PMID:10839543, PMID:15833158 RGD:1600008, RGD:12791266 NCBI chr  X:156,254,187...156,280,046
Ensembl chr  X:156,257,173...156,270,748 		JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISS OMIM:308300 MouseDO NCBI chr  X:152,933,118...152,964,399
Ensembl chr  X:152,933,069...152,964,390 		JBrowse link
hypomelanosis of Ito term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Incontinentia pigmenti syndrome ClinVar PMID:25741868 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Incontinentia pigmenti syndrome ClinVar PMID:8169255, PMID:9450877, PMID:10839543, PMID:11047757, PMID:11179023, PMID:11224521, PMID:11242109, PMID:11484156, PMID:11590134, PMID:18350553, PMID:20412081, PMID:20499091, PMID:25741868, PMID:27368913, PMID:30422821, PMID:31965418 NCBI chr  X:156,254,187...156,280,046
Ensembl chr  X:156,257,173...156,270,748 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    sensory system disease 5213
      skin disease 2758
        Skin Abnormalities 658
          Bloch-Sulzberger syndrome 3
            hypomelanosis of Ito 2
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          skin disease 2758
            Skin Abnormalities 658
              Bloch-Sulzberger syndrome 3
                hypomelanosis of Ito 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.