JSON

tuberous sclerosis

^ 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 ]

Term info

database cross reference
  • MedDRA:10045138 (Orphanet:805/e)
  • OMIMPS:191100 (MONDO:equivalentTo)
  • MESH:D014402 (Orphanet:805/e)
  • SCTID:7199000 (MONDO:equivalentTo)
  • GARD:0007830 (MONDO:equivalentTo)
  • NCIT:C3424 (MONDO:equivalentTo)
  • ICD9:759.5 (MONDO:i2s)
  • DOID:13515 (MONDO:equivalentTo)
  • Orphanet:805 (MONDO:equivalentTo)
  • GARD:0000946 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, clingen

abbreviation
TSC [ NCIT:C3424 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/1489, https://github.com/monarch-initiative/mondo/issues/6025

closeMatch

http://identifiers.org/meddra/10045138

definition

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.

exactMatch

https://omim.org/phenotypicSeries/PS191100, http://identifiers.org/mesh/D014402, http://purl.obolibrary.org/obo/NCIT_C3424, http://purl.obolibrary.org/obo/DOID_13515, http://purl.obolibrary.org/obo/Orphanet_805, 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 exact synonym

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

has related synonym

Bourneville disease, Bourneville Phacomatosis, Bourneville-Pringles disease, bourneville's disease, adenoma sebaceum syndrome, sclerosis, cerebral, Bourneville pringle disease, sclerosis, tuberous, cerebral Scleroses, phakomatosis, Bourneville, syndrome, Bourneville's, ts - tuberous sclerosis, syndrome, Bourneville, Bourneville-pringle disease, sclerosis Tuberosa, disease, Bourneville-pringle's, Bourneville-pringle's disease, Bourneville phakomatosis, sclerosis, tuberose, disease, Bourneville-pringle, adenoma sebaceum, Bourneville pringle's disease, tuberous sclerosis Complex, Phacomatosis, Bourneville

id

MONDO:0001734