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

ONTOLOGY REPORT - ANNOTATIONS


Term:Ohdo syndrome
go back to main search page
Accession:DOID:0060289 term browser browse the term
Definition:A syndrome that is characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. (DO)
Synonyms:exact_synonym: Blepharophimosis Syndrome Ohdo Type;   Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth;   Ohdo Blepharophimosis syndrome;   Ohdo Madokoro Sonoda syndrome;   Tetra-amelia, ectodermal dysplasia, and lacrimal duct abnormality
 primary_id: MESH:C536232;   MESH:C537838
 alt_id: OMIM:249620;   RDO:0001724;   RDO:0003745
 xref: ORDO:2728
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
Ohdo syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:11554173
blepharophimosis-intellectual disability syndrome, SBBYS type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dusp29 dual specificity phosphatase 29 JBrowse link 15 2,766,929 2,806,573 RGD:8554872
G Kat6b lysine acetyltransferase 6B JBrowse link 15 2,811,933 2,966,833 RGD:9588484
RGD:8554872
RGD:7240710
Ohdo Syndrome, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:7240710
RGD:8554872
RGD:12910951

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16021
    syndrome 6144
      Ohdo syndrome 3
        Ohdo Syndrome, X-Linked 1
        blepharophimosis-intellectual disability syndrome, SBBYS type 2
Path 2
Term Annotations click to browse term
  disease 16021
    disease of anatomical entity 15274
      nervous system disease 10770
        central nervous system disease 8860
          brain disease 8147
            disease of mental health 5776
              developmental disorder of mental health 2917
                specific developmental disorder 2099
                  intellectual disability 1940
                    Ohdo syndrome 3
                      Ohdo Syndrome, X-Linked 1
                      blepharophimosis-intellectual disability syndrome, SBBYS type 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.