Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
autosomal recessive congenital ichthyosis 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G St14 suppression of tumorigenicity 14 (colon carcinoma) ISO ClinVar Annotator: match by term: Ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 11
ClinVar
OMIM
CTD
PMID:9450882 PMID:12207612 PMID:17273967 PMID:18445049 PMID:18843291 PMID:29611532 NCBI chr 9:31,088,590...31,131,811
Ensembl chr 9:31,089,402...31,131,853
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14453
    physical disorder 3096
      autosomal recessive congenital ichthyosis 29
        autosomal recessive congenital ichthyosis 11 1
Path 2
Term Annotations click to browse term
  disease 14453
    Developmental Disease 10779
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9290
        genetic disease 8822
          monogenic disease 7112
            autosomal genetic disease 6281
              autosomal recessive disease 3446
                autosomal recessive congenital ichthyosis 29
                  autosomal recessive congenital ichthyosis 11 1
paths to the root