ONTOLOGY REPORT - ANNOTATIONS


Term:CEDNIK syndrome
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Accession:DOID:0060337 term browser browse the term
Definition:An autosomal recessive disease 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 PALMOPLANTAR KERATODERMA SYNDROME;   cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome
 primary_id: MESH:C537943
 alt_id: OMIM:609528;   RDO:0003865
 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
RGD:8554872

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Path 1
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  disease 14875
    syndrome 4220
      CEDNIK syndrome 1
Path 2
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  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          skin disease 2253
            Skin Abnormalities 344
              ectodermal dysplasia 142
                Neurocutaneous Syndromes 65
                  CEDNIK syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.