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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 14
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Accession:DOID:0080258 term browser browse the term
Definition:An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the SULT2B1 gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: ARCI14
 primary_id: MIM:617571


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autosomal recessive congenital ichthyosis 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sult2b1 sulfotransferase family 2B member 1 ISO ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 14 OMIM
ClinVar		 PMID:17496163 PMID:25741868 PMID:28492532 PMID:28575648 NCBI chr 1:96,200,155...96,261,295
Ensembl chr 1:96,200,156...96,261,295 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19049
    physical disorder 5170
      autosomal recessive congenital ichthyosis 57
        autosomal recessive congenital ichthyosis 14 1
Path 2
Term Annotations click to browse term
  disease 19049
    disease of anatomical entity 18383
      nervous system disease 14257
        Neurologic Manifestations 10337
          sensory system disease 7253
            skin disease 4198
              Skin Abnormalities 1320
                ichthyosis 97
                  autosomal recessive congenital ichthyosis 57
                    autosomal recessive congenital ichthyosis 14 1
paths to the root