tuberous sclerosis - 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:	tuberous sclerosis	go back to main search page
Accession:	DOID:13515	browse the term
Definition:	Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and HAMARTOMAS formation throughout the body, especially the heart, kidneys, and eyes. Mutations in two loci TSC1 and TSC2 that encode hamartin and tuberin, respectively, are associated with the disease.
Synonyms:	exact_synonym:	Bourneville Phakomatosis; Bourneville Pringle Disease; Bourneville Pringle's Disease; Bourneville Syndrome; Bourneville disease; Bourneville phacomatosis; Bourneville's Disease; Bourneville's Syndrome; Bourneville-Pringles Disease; Cerebral Scleroses; Cerebral Sclerosis; Epiloia; Sclerosis Tuberosa; TS; TSC; adenoma sebaceum; tuberose sclerosis; tuberous sclerosis complex; tuberous sclerosis syndrome
	narrow_synonym:	CORTICAL TUBERS
	primary_id:	MESH:D014402
	xref:	GARD:7830; ICD10CM:Q85.1; ICD9CM:759.5; NCI:C3424; OMIM:PS191100
For additional species annotation, visit the Alliance of Genome Resources.

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Genes (101)

tuberous sclerosis

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Bmp4

bone morphogenetic protein 4

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