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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:autosomal recessive congenital ichthyosis 13
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Accession:DOID:0080257 term browser browse the term
Definition:An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous mutation in the SDR9C7 gene on chromosome 12q13. (DO)
Synonyms:exact_synonym: ARCI13
 primary_id: OMIM:617574
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal recessive congenital ichthyosis 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdr9c7 short chain dehydrogenase/reductase family 9C, member 7 ISO ClinVar Annotator: match by term: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13 ClinVar
OMIM
PMID:25741868 PMID:28173123 PMID:28369735 NCBI chr 7:71,152,366...71,169,510
Ensembl chr 7:71,157,664...71,170,511
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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 13 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 13 1
paths to the root