FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Cockayne syndrome ID (Ontology) DOID:2962 (Human Disease)
Definition A syndrome that is characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development.
Also Known As "Neill-Dingwall syndrome"
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DO.org
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       6
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 Alleles Genes
 Cockayne syndrome       6      2
 model of | Cockayne syndrome       6       --
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 Cockayne syndrome  10 rec.
                                  |__cerebrooculofacioskeletal syndrome 3 rec.
                                  |   |__cerebrooculofacioskeletal syndrome 1
                                  |   |__cerebrooculofacioskeletal syndrome 2 1 rec.
                                  |   |__cerebrooculofacioskeletal syndrome 3 1 rec.
                                  |   |__cerebrooculofacioskeletal syndrome 4 1 rec.
                                  |__Cockayne syndrome A
                                  |__Cockayne syndrome B
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Is a autosomal recessive disease
syndrome
Part of
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Synonyms
  • "Cockayne's syndrome" RELATED
    "Neill-Dingwall syndrome" EXACT
Secondary IDs
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GARD:6122
ICD10CM:Q87.19
MESH:D003057
NCI:C9460
ORDO:191
SNOMEDCT_US_2023_03_01:205832003
UMLS_CUI:C0009207