FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Cockayne syndrome B ID (Ontology) DOID:0080908 (Human Disease)
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.
Also Known As "Cockayne syndrome 2" ; "Cockayne syndrome type II"
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Spanning Tree (Parents/Children)
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autosomal recessive disease__
syndrome_____________________|
                             Cockayne syndrome
                              |__Cockayne syndrome B
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Synonyms
  • "Cockayne syndrome 2" EXACT
    "Cockayne syndrome type II" EXACT
Secondary IDs
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GARD:1420
MIM:133540
ORDO:90322