Preferred Name |
Tuberous Sclerosis |
|
Synonyms |
Disease, Bourneville-Pringle's |
|
Definitions |
Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and HAMARTOMAS formation throughout the body, especially the heart, kidneys, and eyes. Mutations in two loci TSC1 and TSC2 that encode hamartin and tuberin, respectively, are associated with the disease. |
|
ID |
http://purl.bioontology.org/ontology/MESH/D014402 |
|
altLabel |
Disease, Bourneville-Pringle's Bourneville Syndrome Sclerosis, Tuberous Epiloia Tuberous Sclerosis Complex Phacomatosis, Bourneville Bourneville Phakomatosis Bourneville's Disease Tuberose Sclerosis Phakomatosis, Bourneville Bourneville-Pringle Disease Sclerosis Tuberosa Bourneville Pringle's Disease Syndrome, Bourneville's Sclerosis, Tuberose Adenoma Sebaceum Bourneville-Pringles Disease Bourneville Phacomatosis Bourneville Pringle Disease Disease, Bourneville-Pringle Cerebral Scleroses Bourneville's Syndrome Sclerosis, Cerebral Bourneville-Pringle's Disease Syndrome, Bourneville Bourneville Disease Cerebral Sclerosis |
|
AQL |
BL CF CI CL CN CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
cui |
C0041341 C0265319 |
|
DC |
1 |
|
definition |
Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and HAMARTOMAS formation throughout the body, especially the heart, kidneys, and eyes. Mutations in two loci TSC1 and TSC2 that encode hamartin and tuberin, respectively, are associated with the disease. Facial ANGIOFIBROMA in tuberous sclerosis |
|
DX |
19660101 |
|
Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000151 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
Inverse of RO | ||
Mapped from |
http://purl.bioontology.org/ontology/MESH/C565346 http://purl.bioontology.org/ontology/MESH/C536328 |
|
MDA |
19990101 |
|
MMR |
20180629 |
|
MN |
C10.500.507.400.750 C04.445.810 C10.574.500.865 C16.320.400.880 C16.131.666.507.400.750 C04.700.700 C10.562.850 C16.320.700.700 C04.651.800 |
|
notation |
D014402 |
|
prefLabel |
Tuberous Sclerosis |
|
TERMUI |
T842620 T787201 T372090 T769422 T769423 T787203 T842621 T787202 T042107 T042106 T372091 T768338 T373373 T042108 T811935 T842619 |
|
TH |
OMIM (2013) NLM (2000) NLM (1966) NLM (2012) UNK (19XX) GHR (2014) NLM (2011) ORD (2010) |
|
tui |
T191 |
|
subClassOf |
http://purl.bioontology.org/ontology/MESH/D009378 http://purl.bioontology.org/ontology/MESH/D020752 http://purl.bioontology.org/ontology/MESH/D006222 http://purl.bioontology.org/ontology/MESH/D065703 |