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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 14759
    syndrome 4210
      CEDNIK syndrome 1
Path 2
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  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        sensory system disease 4231
          skin disease 2240
            Skin Abnormalities 340
              ectodermal dysplasia 139
                Neurocutaneous Syndromes 62
                  CEDNIK syndrome 1
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