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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
 xref: ICD10CM:Q82.3;   MESH:C531716;   MESH:D007184;   MIM:308300;   MONDO:0010631;   NCI:C84787;   ORDO:464
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 syndrome ClinVar PMID:25741868 NCBI chr  X:157,352,364...157,372,144
Ensembl chr  X:157,352,373...157,372,144 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO
ISS 		ClinVar Annotator: match by term: INCONTINENTIA PIGMENTI, TYPE II | ClinVar Annotator: match by term: Incontinentia pigmenti syndrome
OMIM:308300
CTD Direct Evidence: marker/mechanism
DNA:deletion:exons: 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:8169255 PMID:9450877 PMID:10839543 PMID:11047757 PMID:11179023 More... RGD:1600008, RGD:12791266 NCBI chr  X:157,358,279...157,397,563
Ensembl chr  X:157,367,639...157,392,757 		JBrowse link
G Nsdhl NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL ISS OMIM:308300 MouseDO NCBI chr  X:155,817,301...155,848,224
Ensembl chr  X:155,817,340...155,848,220 		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:157,352,364...157,372,144
Ensembl chr  X:157,352,373...157,372,144 		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 More... NCBI chr  X:157,358,279...157,397,563
Ensembl chr  X:157,367,639...157,392,757 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19154
    Pathological Conditions, Signs and Symptoms 13647
      Pathologic Processes 8404
        pigmentation disease 333
          Bloch-Sulzberger syndrome 3
            hypomelanosis of Ito 2
Path 2
Term Annotations click to browse term
  disease 19154
    Pathological Conditions, Signs and Symptoms 13647
      Signs and Symptoms 11199
        Neurologic Manifestations 10443
          sensory system disease 7347
            skin disease 4339
              Genetic Skin Diseases 1870
                Bloch-Sulzberger syndrome 3
                  hypomelanosis of Ito 2
paths to the root