JSON

tuberous sclerosis 1

^ http://purl.obolibrary.org/obo/MONDO_0008612

Tuberous sclerosis mapped to chromosome 9q34 (TSC1 gene). [ NCIT:C75122 ]

Term info

database cross reference
  • DOID:0080324 (MONDO:equivalentTo)
  • GARD:0005380 (MONDO:equivalentTo)
  • OMIM:191100 (MONDO:equivalentTo)
  • NCIT:C75122 (MONDO:equivalentTo)
  • MESH:C565346 (MONDO:equivalentTo)
Subsets

gard_rare

abbreviation
TSC1 [ OMIM:191100 MONDO:Lexical ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

definition

Tuberous sclerosis mapped to chromosome 9q34 (TSC1 gene).

exactMatch

http://purl.obolibrary.org/obo/NCIT_C75122, http://purl.obolibrary.org/obo/DOID_0080324, https://omim.org/entry/191100, http://identifiers.org/mesh/C565346

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019341

has exact synonym

tuberous sclerosis caused by mutation in TSC1, tuberous sclerosis 1, TSC1 tuberous sclerosis, tuberous sclerosis type 1, tuberous sclerosis-1

has related synonym

tuberous sclerosis, type 1, TSC1, tuberous sclerosis Complex, tuberose sclerosis

id

MONDO:0008612

Term relations

Subclass of: