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autosomal recessive congenital ichthyosis 10 - Ontology Report - Rat Genome Database

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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;   PNPLA1-RELATED CONDITION
 narrow_synonym: Ichthyosis, Golden Retriever
 primary_id: MIM:615024
 alt_id: OMIA:001588

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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 Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 10 ClinVar PMID:9425895 PMID:19453707 PMID:23708187 PMID:24375629 PMID:25741868 More... NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071 		JBrowse link
G Pnpla1 patatin-like phospholipase domain containing 1 ISO
ISS 		OMIM:615024
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 10 | ClinVar Annotator: match by term: PNPLA1-related condition 		OMIM
MouseDO
ClinVar		 PMID:3757302 PMID:22246504 PMID:23352160 PMID:24033266 PMID:24344921 More... NCBI chr20:6,917,993...6,952,157
Ensembl chr20:6,917,931...6,952,375 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19143
    physical disorder 5203
      autosomal recessive congenital ichthyosis 54
        autosomal recessive congenital ichthyosis 10 2
Path 2
Term Annotations click to browse term
  disease 19143
    disease of anatomical entity 18456
      nervous system disease 14362
        Neurologic Manifestations 10461
          sensory system disease 7373
            skin disease 4308
              Skin Abnormalities 1325
                ichthyosis 95
                  autosomal recessive congenital ichthyosis 54
                    autosomal recessive congenital ichthyosis 10 2
paths to the root