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RGD uses the Human Disease Ontology (DO, 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 11
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Accession:DOID:0060720 term browser browse the term
Definition:An autosomal recessive congenital ichthyosis characterized by ichthyosis, hypotrichosis, photophobia, corneal opacity, pingueculum, blepharitis, marked acanthosis, otrhohyperkeratosis and hyperkeratosis that has_material_basis_in homozygous mutation in the ST14 gene on chromosome 11q24. (DO)
Synonyms:exact_synonym: ARCI11;   ARIH;   ICHTHYOSIS AND FOLLICULAR ATROPHODERMA WITH HYPOTRICHOSIS AND HYPOHIDROSIS;   IFAH;   IFAH syndrome;   IHS;   autosomal recessive ichthyosis with hypotrichosis;   hypotrichosis-congenital ichthyosis syndrome;   ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis;   ichthyosis-follicular atrophoderma-hypotrichosis syndrome;   ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome;   ichthyosis-hypotrichosis syndrome
 primary_id: OMIM:602400
 alt_id: MESH:C536273
For additional species annotation, visit the Alliance of Genome Resources.

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autosomal recessive congenital ichthyosis 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ST14 ST14 transmembrane serine protease matriptase ISO OMIM NCBI chr 5:4,652,493...4,666,728
Ensembl chr 5:4,651,863...4,691,069
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Path 1
Term Annotations click to browse term
  disease 13745
    physical disorder 2975
      autosomal recessive congenital ichthyosis 25
        autosomal recessive congenital ichthyosis 11 1
Path 2
Term Annotations click to browse term
  disease 13745
    Developmental Disease 10342
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8901
        genetic disease 8446
          monogenic disease 6821
            autosomal genetic disease 6040
              autosomal recessive disease 3329
                autosomal recessive congenital ichthyosis 25
                  autosomal recessive congenital ichthyosis 11 1
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