Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
CEDNIK syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snap29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
ClinVar Annotator: match by term: CEDNIK syndrome
OMIM
ClinVar
PMID:15968592 PMID:19350501 PMID:21073448 PMID:23231787 PMID:25356970 PMID:25473036 PMID:25741868 PMID:25958742 PMID:26467025 PMID:28492532 NCBI chr11:87,827,633...87,858,107
Ensembl chr11:87,827,651...87,858,107
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    syndrome 7036
      Neurocutaneous Syndromes 151
        CEDNIK syndrome 1
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      nervous system disease 10948
        sensory system disease 5168
          skin disease 2711
            Skin Abnormalities 616
              ectodermal dysplasia 252
                Neurocutaneous Syndromes 151
                  CEDNIK syndrome 1
paths to the root