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Term:CEDNIK syndrome
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Accession:DOID:0060337 term browser browse the term
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. (DO)
Synonyms:exact_synonym: cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome;   cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
 primary_id: MESH:C537943
 alt_id: OMIM:609528
 xref: ORDO:66631
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CEDNIK syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Snap29 synaptosome associated protein 29 JBrowse link 11 87,827,633 87,858,107 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15992
    syndrome 6097
      Neurocutaneous Syndromes 150
        CEDNIK syndrome 1
Path 2
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  disease 15992
    disease of anatomical entity 15263
      nervous system disease 10756
        sensory system disease 4969
          skin disease 2651
            Skin Abnormalities 612
              ectodermal dysplasia 251
                Neurocutaneous Syndromes 150
                  CEDNIK syndrome 1
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