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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;   IFAH;   IFAH syndrome;   IHS;   autosomal recessive ichthyosis with hypotrichosis;   hypotrichosis-congenital ichthyosis syndrome;   ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis;   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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 11
PMID:9450882 PMID:12207612 PMID:17273967 PMID:18445049 PMID:18843291 More... NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    physical disorder 4194
      autosomal recessive congenital ichthyosis 31
        autosomal recessive congenital ichthyosis 11 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        sensory system disease 6410
          skin disease 3782
            keratosis 147
              ichthyosis 68
                autosomal recessive congenital ichthyosis 31
                  autosomal recessive congenital ichthyosis 11 1
paths to the root