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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:66,404,622...66,427,772
Ensembl chr  X:66,404,760...66,428,387
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 Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type
ClinVar PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:23236640 More... NCBI chr15:2,593,473...2,634,019
Ensembl chr15:2,593,578...2,633,503
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:23236640 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
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
PMID:8279489 PMID:10405444 PMID:16700052 PMID:17334363 PMID:18691967 More... RGD:12910951 NCBI chr  X:66,404,622...66,427,772
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 17207
    syndrome 8126
      Ohdo syndrome 4
        Ohdo Syndrome, X-Linked 1
        blepharophimosis-intellectual disability syndrome, SBBYS type 3
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      nervous system disease 12101
        central nervous system disease 10378
          brain disease 9741
            disease of mental health 7043
              developmental disorder of mental health 4378
                specific developmental disorder 3635
                  intellectual disability 3446
                    Ohdo syndrome 4
                      Ohdo Syndrome, X-Linked 1
                      blepharophimosis-intellectual disability syndrome, SBBYS type 3
paths to the root