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Human Health Exposure Analysis Resource
Last uploaded:
July 19, 2024
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| Preferred Name | Cockayne syndrome B | |
| Synonyms |
Cockayne syndrome type II Cockayne syndrome 2 |
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| Definitions |
A Cockayne syndrome that is characterized by severe physical and mental retardation, microcephaly, progressive neurologic and retinal degeneration, skeletal abnormalities, gait defects, and sun sensitivity with no increased frequency of cancer, and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 6 excision repair cross-complementing protein on chromosome 10q11. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0080908 |
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| alternative label |
Cockayne syndrome type II Cockayne syndrome 2
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| database_cross_reference |
GARD:1420 MIM:133540 ORDO:90322
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|
| definition |
A Cockayne syndrome that is characterized by severe physical and mental retardation, microcephaly, progressive neurologic and retinal degeneration, skeletal abnormalities, gait defects, and sun sensitivity with no increased frequency of cancer, and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 6 excision repair cross-complementing protein on chromosome 10q11.
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| has exact synonym |
Cockayne syndrome type II Cockayne syndrome 2
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| has_obo_namespace |
disease_ontology
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| id |
DOID:0080908
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| in_subset | ||
| label |
Cockayne syndrome B
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|
| notation |
DOID:0080908
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|
| note |
A Cockayne syndrome that is characterized by severe physical and mental retardation, microcephaly, progressive neurologic and retinal degeneration, skeletal abnormalities, gait defects, and sun sensitivity with no increased frequency of cancer, and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 6 excision repair cross-complementing protein on chromosome 10q11.
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| preferred label |
Cockayne syndrome B
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| prefLabel |
Cockayne syndrome B
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| subClassOf |
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