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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: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;   Ohdo Blepharophimosis syndrome;   Ohdo Madokoro Sonoda syndrome;   mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth;   tetra-amelia, ectodermal dysplasia, and lacrimal duct abnormality
 primary_id: MESH:C536232;   MESH:C537838
 alt_id: OMIM:249620
 xref: ORDO:2728
For additional species annotation, visit the Alliance of Genome Resources.


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Ohdo syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med12 mediator complex subunit 12 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:71,174,653...71,197,812
Ensembl chr  X:71,174,699...71,197,812
JBrowse link
blepharophimosis-intellectual disability syndrome, SBBYS type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dusp29 dual specificity phosphatase 29 ISO ClinVar Annotator: match by term: Young Simpson syndrome ClinVar PMID:8055130, PMID:18798845, PMID:21344633, PMID:22077973, PMID:23436491, PMID:25326637, PMID:25741868, PMID:27696664 NCBI chr15:2,766,929...2,806,573
Ensembl chr15:2,766,710...2,806,536
JBrowse link
G Kat6b lysine acetyltransferase 6B ISO DNA:mutations:cds:multiple (human)
ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type
ClinVar Annotator: match by term: Young Simpson syndrome
ClinVar Annotator: match by OMIM:603736
ClinVar
OMIM
PMID:8055130, PMID:18798845, PMID:21344633, PMID:22077973, PMID:23436491, PMID:25326637, PMID:25424711, PMID:25741868, PMID:26334766, PMID:26938784, PMID:27696664, PMID:28758091, PMID:30353918, PMID:22077973 RGD:9588484 NCBI chr15:2,811,933...2,966,833
Ensembl chr15:2,813,537...2,966,576
JBrowse link
Ohdo Syndrome, X-Linked term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by OMIM:300895
ClinVar Annotator: match by term: BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, MAAT-KIEVIT-BRUNNER TYPE
DNA:missense mutations:cds:c.3443G>A (p.R1148H),c.3493T>C (p.S1165P),c.5185C>A (p.H1729N)(human)
OMIM
ClinVar
PMID:8279489, PMID:16700052, PMID:23395478, PMID:25326637, PMID:25741868, PMID:23395478 RGD:12910951 NCBI chr  X:71,174,653...71,197,812
Ensembl chr  X:71,174,699...71,197,812
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Ohdo syndrome 3
        Ohdo Syndrome, X-Linked 1
        blepharophimosis-intellectual disability syndrome, SBBYS type 2
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            disease of mental health 6015
              developmental disorder of mental health 3136
                specific developmental disorder 2310
                  intellectual disability 2131
                    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.