ONTOLOGY REPORT - ANNOTATIONS


Term:Ohdo syndrome
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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
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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 Dupd1 dual specificity phosphatase and pro isomerase domain containing 1 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 14823
    syndrome 4218
      Ohdo syndrome 3
        Ohdo Syndrome, X-Linked 1
        blepharophimosis-intellectual disability syndrome, SBBYS type 2
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        central nervous system disease 6908
          brain disease 6412
            disease of mental health 4323
              developmental disorder of mental health 2594
                specific developmental disorder 1329
                  intellectual disability 1157
                    Ohdo syndrome 3
                      Ohdo Syndrome, X-Linked 1
                      blepharophimosis-intellectual disability syndrome, SBBYS type 2
paths to the root

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