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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 10
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Accession:DOID:0060719 term browser browse the term
Definition:An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, moderade erythroderma, palmoplantar keratoderma and hypergranulosis that has_material_basis_in homozygous mutation in the PNPLA1 gene on chromosome 6p21. (DO)
Synonyms:exact_synonym: ARCI10;   Ichthyosis, PNPLA1-related
 narrow_synonym: Ichthyosis, Golden Retriever
 primary_id: OMIM:615024
 alt_id: OMIA:001588;   RDO:9000481
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal recessive congenital ichthyosis 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpla1 patatin-like phospholipase domain containing 1 ISO ClinVar Annotator: match by OMIM:615024
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 10
OMIM
ClinVar
PMID:3757302 PMID:22246504 PMID:23352160 PMID:24033266 PMID:24344921 PMID:25741868 PMID:26424960 PMID:26691440 PMID:27884173 PMID:28369476 PMID:28403545 PMID:28492532 NCBI chr20:6,101,061...6,143,762
Ensembl chr20:6,102,277...6,143,707
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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 10 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 10 1
paths to the root