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

ONTOLOGY REPORT - ANNOTATIONS


Term:atrichia with papular lesions
go back to main search page
Accession:DOID:0060689 term browser browse the term
Definition:An alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body followed by development of papular lesions all over the body that has_material_basis_in mutations in the HR gene on chromosome 8p21.3. (DO)
Synonyms:exact_synonym: APL;   papular atrichia
 primary_id: MESH:C565924
 alt_id: OMIM:209500;   RDO:0014432
 xref: ORDO:86819
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
atrichia with papular lesions term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hr HR, lysine demethylase and nuclear receptor corepressor JBrowse link 15 52,241,801 52,261,276 RGD:7240710
RGD:8554872
G Odc1 ornithine decarboxylase 1 JBrowse link 6 42,852,529 42,859,142 RGD:13592920

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    sensory system disease 4674
      skin disease 2461
        vesiculobullous skin disease 109
          atrichia with papular lesions 2
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        sensory system disease 4674
          skin disease 2461
            hair disease 228
              hypotrichosis 111
                alopecia 78
                  atrichia with papular lesions 2
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.