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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 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


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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		 OMIM
CTD
ClinVar		 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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    physical disorder 4964
      autosomal recessive congenital ichthyosis 51
        autosomal recessive congenital ichthyosis 11 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        Neurologic Manifestations 10102
          sensory system disease 7022
            skin disease 4047
              Skin Abnormalities 1298
                ichthyosis 91
                  autosomal recessive congenital ichthyosis 51
                    autosomal recessive congenital ichthyosis 11 1
paths to the root