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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 hetrezogyous 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
 primary_id: MESH:C537264
 alt_id: OMIM:601277;   RDO:0003069
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by OMIM:601277
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4A
OMIM
ClinVar
PMID:8845852 PMID:10094194 PMID:12915478 PMID:15756637 PMID:19664001 PMID:23528209 PMID:25741868 PMID:28295493 PMID:30916489 NCBI chr 9:78,521,477...78,693,421
Ensembl chr 9:78,522,464...78,693,028
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    physical disorder 3082
      autosomal recessive congenital ichthyosis 29
        autosomal recessive congenital ichthyosis 4A 1
Path 2
Term Annotations click to browse term
  disease 17150
    disease of anatomical entity 16494
      nervous system disease 12094
        sensory system disease 5599
          skin disease 2948
            Skin Abnormalities 767
              ichthyosis 62
                autosomal recessive congenital ichthyosis 29
                  autosomal recessive congenital ichthyosis 4A 1
paths to the root