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autosomal recessive congenital ichthyosis 4A - 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 4A
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Accession:DOID:0060712 term browser browse the term
Definition:An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis and ectropion that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35. (DO)
Synonyms:exact_synonym: ARCI4A;   ICR2B;   Ichthyosis congenita 2B;   LI2;   ichthyosis congenita IIB;   lamellar ichthyosis 2;   lamellar ichthyosis, type 2
 broad_synonym: ABCA12-RELATED CONDITION
 primary_id: MESH:C537264
 alt_id: MIM:601277

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autosomal recessive congenital ichthyosis 4A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca12 ATP binding cassette subfamily A member 12 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ABCA12-related condition | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4A 		OMIM
CTD
ClinVar		 PMID:8845852 PMID:10094194 PMID:12915478 PMID:15756637 PMID:16007253 More... NCBI chr 9:80,272,121...80,445,340
Ensembl chr 9:72,823,350...72,996,049 		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 4A 1
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 4A 1
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