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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:Vohwinkel Syndrome, Variant Form
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Accession:DOID:9001125 term browser browse the term
Synonyms:exact_synonym: LORICRIN KERATODERMA;   Mutilating Keratoderma with Ichthyosis;   Vohwinkel Syndrome with Ichthyosis
 primary_id: MESH:C565826;   RDO:0014364
 alt_id: OMIM:604117
For additional species annotation, visit the Alliance of Genome Resources.


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Vohwinkel Syndrome, Variant Form term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Loricrin loricrin cornified envelope precursor protein ISO ClinVar Annotator: match by OMIM:604117 OMIM
ClinVar
PMID:8673107 PMID:9326323 PMID:9326398 PMID:10798362 PMID:11703298 NCBI chr 2:191,984,455...191,990,713
Ensembl chr 2:191,984,773...191,986,170
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    sensory system disease 5584
      skin disease 2945
        Genetic Skin Diseases 1041
          Vohwinkel Syndrome, Variant Form 1
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      nervous system disease 12074
        sensory system disease 5584
          skin disease 2945
            Genetic Skin Diseases 1041
              Vohwinkel Syndrome, Variant Form 1
paths to the root