Bloch-Sulzberger syndrome - Ontology Report

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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	go back to main search page
Accession:	DOID:12305	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:	ICD10CM:Q82.3; NCI:C84787
For additional species annotation, visit the Alliance of Genome Resources.

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Genes (2)

Bloch-Sulzberger syndrome

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Ikbkg

inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

ISO

ClinVar Annotator: match by term: Incontinentia pigmenti syndrome
DNA:deletion:exons:

ClinVar
OMIM
RGD

PMID:8169255 PMID:9450877 PMID:10839543 PMID:11047757 PMID:11179023 More...

RGD:1600008, RGD:12791266

NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499

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

hypomelanosis of Ito