Send us a Message



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

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
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;   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



show annotations for term's descendants           Sort by:
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:66,404,807...66,427,775
Ensembl chr  X:66,404,760...66,428,387
JBrowse link
Ohdo syndrome, SBBYS variant term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kat6b lysine acetyltransferase 6B ISO DNA:mutations:cds:multiple (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type | ClinVar Annotator: match by term: Say-Barber-Biesecker-Young-Simpson variant of Ohdo Syndrome
OMIM
CTD
ClinVar
RGD
PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:22265014 More... RGD:9588484 NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome ClinVar PMID:32694869 NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
JBrowse link
G Ube3b ubiquitin protein ligase E3B ISO ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome ClinVar PMID:25741868 NCBI chr12:42,183,756...42,230,094
Ensembl chr12:42,183,760...42,230,094
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 DNA:missense mutations:cds:c.3443G>A (p.R1148H),c.3493T>C (p.S1165P),c.5185C>A (p.H1729N)(human)
ClinVar Annotator: match by term: BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, MAAT-KIEVIT-BRUNNER TYPE | ClinVar Annotator: match by term: Ohdo syndrome, X-linked
OMIM
ClinVar
RGD
PMID:8279489 PMID:10405444 PMID:16700052 PMID:17334363 PMID:17369503 More... RGD:12910951 NCBI chr  X:66,404,807...66,427,775
Ensembl chr  X:66,404,760...66,428,387
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10832
      Ohdo syndrome 4
        Ohdo Syndrome, X-Linked 1
        Ohdo syndrome, SBBYS variant 3
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        central nervous system disease 12399
          brain disease 11634
            disease of mental health 8301
              developmental disorder of mental health 5543
                specific developmental disorder 4505
                  intellectual disability 4290
                    Ohdo syndrome 4
                      Ohdo Syndrome, X-Linked 1
                      Ohdo syndrome, SBBYS variant 3
paths to the root