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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
IAGP
Ichthyosis, PNPLA1-related OMIM
OMIA
PMID:15532893 PMID:18424829 PMID:18477327 PMID:19413748 PMID:21866517 PMID:22246504 PMID:26662214 PMID:27237723 NCBI chr12:5,377,430...5,423,556
Ensembl chr12:5,377,430...5,423,556
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13760
    physical disorder 2981
      autosomal recessive congenital ichthyosis 25
        autosomal recessive congenital ichthyosis 10 1
Path 2
Term Annotations click to browse term
  disease 13760
    disease of anatomical entity 13412
      nervous system disease 11166
        sensory system disease 5160
          skin disease 2715
            Skin Abnormalities 739
              ichthyosis 55
                autosomal recessive congenital ichthyosis 25
                  autosomal recessive congenital ichthyosis 10 1
paths to the root