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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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



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CEDNIK syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: CEDNIK syndrome ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr11:83,609,136...83,726,876
Ensembl chr11:83,609,069...83,724,080
JBrowse link
G Snap29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: CEDNIK syndrome OMIM
ClinVar
PMID:15968592 PMID:19350501 PMID:19896110 PMID:21073448 PMID:23185475 More... NCBI chr11:83,578,479...83,608,953
Ensembl chr11:83,578,489...83,608,958
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    syndrome 9802
      Neurocutaneous Syndromes 274
        CEDNIK syndrome 2
Path 2
Term Annotations click to browse term
  disease 18256
    Pathological Conditions, Signs and Symptoms 12646
      Signs and Symptoms 10117
        Neurologic Manifestations 9338
          sensory system disease 6575
            skin disease 3880
              Genetic Skin Diseases 1583
                ectodermal dysplasia 431
                  Neurocutaneous Syndromes 274
                    CEDNIK syndrome 2
paths to the root