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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 8
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Accession:DOID:0060717 term browser browse the term
Definition:An autosomal recessive congenital ichthyosis characterized by diffuse lamellar ichthyosis, slight facial erythema, hyperkeratosis, orthokeratosis, hypergranulosis, and acanthosis that has_material_basis_in homozygous mutation in the LIPN gene on chromosome 10q23. (DO)
Synonyms:exact_synonym: ARCI8;   LI4;   lamellar ichthyosis 4;   late-onset lamellar ichthyosis
 primary_id: OMIM:613943
 alt_id: RDO:9000475
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal recessive congenital ichthyosis 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lipn lipase, family member N ISO OMIM NCBI chr 1:252,375,941...252,394,226
Ensembl chr 1:252,375,933...252,396,460
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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 8 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 8 1
paths to the root