FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term CEDNIK syndrome ID (Ontology) DOID:0060337 (Human Disease)
Definition A syndrome that has_material_basis_in homozygous mutation in the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis.
Also Known As "cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome"
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       1
Human Disease Models (FBhh)  DOID       1
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 Alleles Genes Human Disease Models
 CEDNIK syndrome       1      1      1
 for disease ribbon | CEDNIK syndrome       --       1       --
 model of | CEDNIK syndrome       1      1       --
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 CEDNIK syndrome  3 rec.
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Is a autosomal recessive disease
syndrome
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Synonyms
  • "cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome" EXACT
Secondary IDs
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MESH:C537943
MIM:609528
ORDO:66631
SNOMEDCT_US_2023_03_01:722385008
UMLS_CUI:C1836033