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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 2
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Accession:DOID:0060710 term browser browse the term
Definition:An autosomal recessive congenital ichthyosis characterized by fine scales on the scalp, face, trunk and limbs, marked palmoplantar hyperlinearity, hyperkeratosis, acanthosis, mild hypergranulosis and thickened stratum corneum that has_material_basis_in homozygous or compound heterozygous mutation in the ALOX12B gene on chromosome 17p13. (DO)
Synonyms:exact_synonym: ALOX12B-RELATED CONDITION;   ARCI2;   COLLODION BABY, SELF-HEALING;   NCIE1;   Nonbullous congenital ichthyosiform erythroderma 1;   ichthyosiform erythroderma, BROCQ congenital, nonbullous form
 primary_id: MESH:C538603
 alt_id: OMIM:242100
 xref: NCI:C132827


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autosomal recessive congenital ichthyosis 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALOX12B arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: ALOX12B-related condition | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2 OMIM
ClinVar		 PMID:9536098 PMID:11773004 PMID:16116617 PMID:16199547 PMID:17139268 More... NCBI chr12:53,292,530...53,302,850
Ensembl chr12:53,292,526...53,302,993 		JBrowse link
G ALOXE3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2 ClinVar PMID:16116617 PMID:19131948 PMID:25741868 PMID:26370990 PMID:26762237 More... NCBI chr12:53,309,845...53,331,780
Ensembl chr12:53,309,848...53,331,523 		JBrowse link
G SULT2B1 sulfotransferase family 2B member 1 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2 ClinVar PMID:17496163 PMID:28575648 NCBI chr 6:53,928,248...53,963,443
Ensembl chr 6:53,928,248...53,963,443 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    physical disorder 4824
      autosomal recessive congenital ichthyosis 49
        autosomal recessive congenital ichthyosis 2 3
Path 2
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      nervous system disease 12962
        Neurologic Manifestations 9419
          sensory system disease 6506
            skin disease 3704
              Skin Abnormalities 1253
                ichthyosis 86
                  autosomal recessive congenital ichthyosis 49
                    autosomal recessive congenital ichthyosis 2 3
paths to the root