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ONTOLOGY REPORT - ANNOTATIONS


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
RGD:8554872

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
Term Annotations click to browse term
  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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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.