JSON

tuberous sclerosis

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

Hereditary disease characterized by seizures, intellectual disability, 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:C3424 ]

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

This is just here as a test because I lose it

Term information

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

ordo_disorder, gard_rare, matrix_txgnn_grouping_cancer_or_benign_tumor, matrix_llm__medical_specialization_neurology, matrix_llm__anatomical_joint_disorder, mondo_top_grouping_member, matrix_llm__medical_specialization_member, matrix_llm__is_glucose_dysfunction_false, matrix_included, nord_rare, clingen, matrix_llm__is_glucose_dysfunction_member, mondo_top_grouping_cancer_or_benign_tumor, matrix_txgnn_grouping_member, matrix_llm__is_pathogen_caused_false, rare, matrix_llm__anatomical_kidney_disorder, matrix_llm__txgnn_metabolic_disorder, orphanet_rare, matrix_llm__tag_qaly_lost_member, matrix_llm__anatomical_skin_disorder, mondo_top_grouping_syndromic_disease, harrisons_view_nervous_system_disorder, matrix_llm__tag_qaly_lost_high, otar, matrix_llm__tag_qualy_lost_other, matrix_llm__is_cancer_false, mondo_top_grouping_hereditary_disease, matrix_llm__tag_existing_treatment_member, susceptibility_mondo, matrix_llm__anatomical_bone_disorder, matrix_llm__txgnn_neurodegenerative_disease, matrix_llm__is_pathogen_caused_member, matrix_llm__anatomical_brain_disorder, matrix_llm__medical_specialization_pediatric, matrix_llm__txgnn_member, matrix_llm__tag_existing_treatment_true, harrisons_view_cancer_or_benign_tumor, harrisons_view_member, mondo_top_grouping_nervous_system_disorder, harrisons_view_syndromic_disease, harrisons_view_hereditary_disease, matrix_llm__is_cancer_member, matrix_llm__medical_specialization_genetics_and_genomics, matrix_llm__anatomical_member

abbreviation
TSC [ NCIT:C3424 ]

A synonym that is historic and discouraged
cerebral sclerosis [ DOID:13515 ]

A synonym that is historic and discouraged
adenoma sebaceum syndrome

ClinGen label
tuberous sclerosis [ NCIT:C3424 Orphanet:805 DOID:13515 icd11.foundation:1903085809 ICD9CM:759.5 OMIMPS:191100 ]

A synonym that is historic and discouraged
adenoma sebaceum [ MESH:D014402 ]

closeMatch

http://identifiers.org/meddra/10045138

curated content resource

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

exactMatch

https://omim.org/phenotypicSeries/PS191100

http://identifiers.org/mesh/D014402

http://identifiers.org/medgen/22518

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

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1903085809

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

adenoma sebaceum syndrome

adenoma sebaceum

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