Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  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:autosomal recessive congenital ichthyosis 9
go back to main search page
Accession:DOID:0060718 term browser browse the term
Definition:An autosomal recessive congenital ichthyosis characterized by fine erythrodermic scales, palmoplantar hyperlinearity, thick orthohyperkeratosis, hypergranulosis, moderate acanthosis and mild alopecia that has_material_basis_in homozygous mutation in the CERS3 gene on chromosome 15q26. (DO)
Synonyms:exact_synonym: ARCI9
 primary_id: OMIM:615023;   RDO:9000480
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
autosomal recessive congenital ichthyosis 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cers3 ceramide synthase 3 ISO ClinVar Annotator: match by OMIM:615023
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 9
OMIM
ClinVar
PMID:23549421 PMID:23754960 PMID:25741868 NCBI chr 1:127,706,618...127,781,041
Ensembl chr 1:127,648,234...127,781,017
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    physical disorder 3082
      autosomal recessive congenital ichthyosis 29
        autosomal recessive congenital ichthyosis 9 1
Path 2
Term Annotations click to browse term
  disease 17150
    disease of anatomical entity 16494
      nervous system disease 12094
        sensory system disease 5599
          skin disease 2948
            Skin Abnormalities 767
              ichthyosis 62
                autosomal recessive congenital ichthyosis 29
                  autosomal recessive congenital ichthyosis 9 1
paths to the root