loading...| Preferred Name |
Cockayne Syndrome |
|
| Synonyms |
Type B Cockayne Syndrome |
|
| Definitions |
A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D003057 |
|
| altLabel |
Type B Cockayne Syndrome Type I Cockayne Syndrome Type C Cockayne Syndrome Group B Cockayne Syndrome Cockayne Syndrome, Type II Group A Cockayne Syndrome Cockayne Syndrome, Type I Syndrome, Cockayne Type II Cockayne Syndrome Cockayne Syndrome, Type B Progeria-Like Syndrome Cockayne Syndrome, Type III Cockayne Syndrome Type 3 Group C Cockayne Syndrome Dwarfism-Retinal Atrophy-Deafness Syndrome Cockayne Syndrome, Group C Cockayne Syndrome Type C Progeria-Like Syndromes Progeroid Nanism Progeria Like Syndrome Syndrome, Progeria-Like Type III Cockayne Syndrome Type A Cockayne Syndrome Cockayne Syndrome, Group A Cockayne Syndrome, Type A Cockayne Syndrome, Type C Cockayne Syndrome, Group B |
|
| AQL |
BL CF CI CL 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 |
C0751037 C0751039 C0009207 C0751038 |
|
| DC |
1 |
|
| definition |
A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms. Type C is a rare form. Its genetic defect is not clear; appears to be a heterogeneous group. OMIM suggests that Type C should not be used anymore. Caused by mutations of gene ERCC6. Caused by mutations of gene CKN1. |
|
| DX |
19910101 |
|
| FX |
D008607 |
|
| HN |
1991(1981); use DWARFISM 1981-1990 |
|
| 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/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 | ||
| Machine permutation |
1991; see DWARFISM 1981-1990 |
|
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C565035 http://purl.bioontology.org/ontology/MESH/C562434 http://purl.bioontology.org/ontology/MESH/C566879 |
|
| MDA |
19800509 |
|
| MMR |
20130708 |
|
| MN |
C18.452.284.250 C16.320.240.562 C16.131.077.250 C16.320.400.200 C10.574.500.362 C05.116.099.343.250 |
|
| notation |
D003057 |
|
| prefLabel |
Cockayne Syndrome |
|
| TERMUI |
T841131 T373106 T373090 T751634 T373097 T373096 T841130 T751635 T008848 T373094 T373095 T373091 T373108 T373100 T373099 T373093 T373089 T373107 T373104 T373105 T373101 T373098 T373092 T373102 |
|
| TH |
OMIM (2013) NLM (2000) NLM (1981) NLM (2010) GHR (2014) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D004392 http://purl.bioontology.org/ontology/MESH/D000015 |