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tuberous sclerosis

Go to external page http://purl.obolibrary.org/obo/MONDO_0001734

Hereditary disease characterized by seizures, mental retardation, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade. [ NCIT:P378 ]

Synonyms: Bourneville's disease cerebral sclerosis Bourneville's syndrome tuberous sclerosis complex TSC Bourneville syndrome tuberous sclerosis tuberous sclerosis syndrome Epiloia tuberose sclerosis

This is just here as a test because I lose it

Term information

database cross reference
  • ICD9:759.5 (MONDO:i2s)
  • NCIT:C3424 (MONDO:equivalentTo)
  • MESH:D014402 (Orphanet:805/e)
  • SCTID:7199000 (MONDO:equivalentTo)
  • DOID:13515 (MONDO:equivalentTo)
  • GARD:7830 (Orphanet:805)
  • NORD:1802 (MONDO:NORD)
  • MedDRA:10045138 (Orphanet:805/e)
  • Orphanet:805 (MONDO:equivalentTo)
  • OMIMPS:191100 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/1489

https://github.com/monarch-initiative/mondo/issues/6025

closeMatch

http://identifiers.org/meddra/10045138

exactMatch

https://omim.org/phenotypicSeries/PS191100

http://identifiers.org/mesh/D014402

http://purl.obolibrary.org/obo/NCIT_C3424

http://www.orpha.net/ORDO/Orphanet_805

http://purl.obolibrary.org/obo/DOID_13515

http://identifiers.org/snomedct/7199000

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0024237

http://purl.obolibrary.org/obo/MONDO_0016756

http://purl.obolibrary.org/obo/MONDO_0017891

has related synonym

Bourneville disease

Bourneville Phacomatosis

Bourneville-Pringles disease

bourneville's disease

adenoma sebaceum syndrome

Bourneville pringle disease

sclerosis, tuberous

sclerosis, cerebral

cerebral Scleroses

phakomatosis, Bourneville

syndrome, Bourneville's

ts - tuberous sclerosis

syndrome, Bourneville

Bourneville-pringle disease

sclerosis Tuberosa

disease, Bourneville-pringle's

Bourneville phakomatosis

Bourneville-pringle's disease

sclerosis, tuberose

disease, Bourneville-pringle

adenoma sebaceum

Bourneville pringle's disease

tuberous sclerosis Complex

Phacomatosis, Bourneville

id

MONDO:0001734

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0001734