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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: cerebral sclerosis Bourneville's disease 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
  • OMIMPS:191100 (https://orcid.org/0000-0002-6601-2165)
  • NANDO:2200826 (https://orcid.org/0000-0003-0011-764X)
  • Orphanet:805 (MONDO:equivalentTo)
  • MEDGEN:22518 (MONDO:equivalentTo)
  • GARD:7830 (MONDO:GARD)
  • SCTID:7199000 (MONDO:equivalentTo)
  • UMLS:C0041341 (MONDO:equivalentTo)
  • DOID:13515 (MONDO:equivalentTo)
  • MedDRA:10045138 (Orphanet:805/e)
  • icd11.foundation:1903085809 (Orphanet:805)
  • MESH:D014402 (Orphanet:805/e)
  • NANDO:1200607 (https://orcid.org/0000-0003-0011-764X)
  • NCIT:C3424 (MONDO:equivalentTo)
  • ICD9:759.5 (MONDO:i2s)
  • NORD:1802 (MONDO:NORD)
Subsets

gard_rare, ordo_disorder, otar, rare, nord_rare, orphanet_rare, clingen

ClinGen label
tuberous sclerosis [ ICD9CM:759.5 Orphanet:805 DOID:13515 ]

abbreviation
TSC [ NCIT:C3424 ]

closeMatch

http://identifiers.org/meddra/10045138

exactMatch

https://omim.org/phenotypicSeries/PS191100

http://identifiers.org/medgen/22518

http://identifiers.org/mesh/D014402

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

http://linkedlifedata.com/resource/umls/id/C0041341

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-Pringles disease

Bourneville Phacomatosis

bourneville's disease

adenoma sebaceum syndrome

Bourneville pringle disease

sclerosis, cerebral

sclerosis, tuberous

cerebral Scleroses

phakomatosis, Bourneville

syndrome, Bourneville's

ts - tuberous sclerosis

syndrome, Bourneville

Bourneville-pringle disease

disease, Bourneville-pringle's

sclerosis Tuberosa

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

should conform to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml

term tracker item

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

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