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

ONTOLOGY REPORT - ANNOTATIONS


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;   Ichthyosis, Follicular Atrophoderma, Hypotrichosis, and Hypohidrosis;   autosomal recessive ichthyosis with hypotrichosis;   hypotrichosis-congenital ichthyosis syndrome;   ichthyosis-follicular atrophoderma-hypotrichosis syndrome;   ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome;   ichthyosis-hypotrichosis syndrome
 primary_id: MESH:C536273;   RDO:0001789
 alt_id: OMIM:602400;   RDO:0014877;   RDO:0015943
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
autosomal recessive congenital ichthyosis 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G St14 suppression of tumorigenicity 14 (colon carcinoma) JBrowse link 9 31,088,590 31,131,811 RGD:8554872
RGD:7240710
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12495
    sensory system disease 4436
      skin disease 2306
        ichthyosis 53
          autosomal recessive congenital ichthyosis 27
            autosomal recessive congenital ichthyosis 11 1
Path 2
Term Annotations click to browse term
  disease 12495
    disease of anatomical entity 12114
      nervous system disease 9617
        sensory system disease 4436
          skin disease 2306
            Skin Abnormalities 495
              ichthyosis 53
                autosomal recessive congenital ichthyosis 27
                  autosomal recessive congenital ichthyosis 11 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.