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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 9
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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

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autosomal recessive congenital ichthyosis 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101958833 ceramide synthase 3 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 9 OMIM
ClinVar		 PMID:23549421 PMID:23754960 PMID:25741868 PMID:28492532 NCBI chrNW_004936483:3,276,519...3,365,054
Ensembl chrNW_004936483:3,206,110...3,229,939
Ensembl chrNW_004936483:3,206,110...3,229,939 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    physical disorder 4664
      autosomal recessive congenital ichthyosis 49
        autosomal recessive congenital ichthyosis 9 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      nervous system disease 12340
        Neurologic Manifestations 9046
          sensory system disease 6279
            skin disease 3576
              Skin Abnormalities 1226
                ichthyosis 86
                  autosomal recessive congenital ichthyosis 49
                    autosomal recessive congenital ichthyosis 9 1
paths to the root