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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 6
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Accession:DOID:0060715 term browser browse the term
Definition:An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, hyperkeratosis, parakeratosis and moderate acanthosis that has_material_basis_in homozygous or compound heterozygous mutation in the NIPAL4 gene on chromosome 5q33. (DO)
Synonyms:exact_synonym: ARCI6;   autosomal recessive congenital ichthyosis, NIPAL4-related;   ichthyosis, NIPAL4-related
 primary_id: OMIM:612281
 alt_id: OMIA:001980
 xref: ICD10CM:Q80.2

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autosomal recessive congenital ichthyosis 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nipal4 NIPA like domain containing 4 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 6 OMIM
ClinVar		 PMID:15317751 PMID:17557927 PMID:19434086 PMID:20016120 PMID:20301593 More... NCBI chrNW_004936515:5,687,364...5,699,153
Ensembl chrNW_004936515:5,687,523...5,695,845 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    physical disorder 4664
      autosomal recessive congenital ichthyosis 49
        autosomal recessive congenital ichthyosis 6 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        Neurologic Manifestations 9046
          sensory system disease 6281
            skin disease 3576
              Skin Abnormalities 1226
                ichthyosis 86
                  autosomal recessive congenital ichthyosis 49
                    autosomal recessive congenital ichthyosis 6 1
paths to the root