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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
 broad_synonym: CERS3-related condition
 xref: MIM:615023;   MONDO:0014010


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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 Cers3 ceramide synthase 3 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 9 | ClinVar Annotator: match by term: CERS3-related condition OMIM
ClinVar		 PMID:23549421 PMID:23754960 PMID:25741868 PMID:28492532 NCBI chr 1:129,728,136...129,833,182
Ensembl chr 1:129,677,781...129,833,181 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    physical disorder 2432
      autosomal recessive congenital ichthyosis 29
        autosomal recessive congenital ichthyosis 9 1
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      nervous system disease 8528
        Neurologic Manifestations 5934
          sensory system disease 4800
            skin disease 2824
              Skin Abnormalities 424
                ichthyosis 63
                  autosomal recessive congenital ichthyosis 29
                    autosomal recessive congenital ichthyosis 9 1
paths to the root