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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:otopalatodigital syndrome type 1
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Accession:DOID:0111783 term browser browse the term
Definition:An otopalatodigital syndrome spectrum disorder characterized by cleft palate, mild skeletal anomalies including digital anomalies, and conductive deafness caused by ossicular anomalies that has_material_basis_in heterozygous or hemizygous mutation in exon 3, 4, or 5 of the FLNA gene on chromosome Xq28. (DO)
Synonyms:exact_synonym: OPD I SYNDROME;   OPD syndrome 1;   OPD1;   Opd Syndrome, Type 1;   Taybi syndrome;   oto-palato-digital syndrome, type 1;   oto-palato-digital syndrome, type I;   otopalatodigital syndrome type I
 narrow_synonym: FRONTOOTOPALATODIGITAL OSTEODYSPLASIA
 broad_synonym: OTOPALATODIGITAL SPECTRUM DISORDER
 primary_id: MESH:C536065
 alt_id: MIM:311300
 xref: GARD:5121;   NCI:C118845;   ORDO:90650



show annotations for term's descendants           Sort by:
otopalatodigital syndrome type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A ISO ClinVar Annotator: match by term: OPD syndrome 1 | ClinVar Annotator: match by term: Oto-palato-digital syndrome, type I | ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type I OMIM
ClinVar
PMID:3265608 PMID:6019437 PMID:9071288 PMID:10982489 PMID:11704759 More... NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,162...124,914,992
JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16783569 NCBI chr  X:10,361,403...10,415,502 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15428
    Developmental Disease 13488
      bone development disease 2328
        osteochondrodysplasia 873
          otopalatodigital syndrome spectrum disorder 13
            otopalatodigital syndrome type 1 2
Path 2
Term Annotations click to browse term
  disease 15428
    Developmental Disease 13488
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12610
        Congenital Abnormalities 7617
          Musculoskeletal Abnormalities 3381
            Congenital Limb Deformities 1050
              Congenital Upper Extremity Deformities 230
                Congenital Hand Deformities 204
                  otopalatodigital syndrome spectrum disorder 13
                    otopalatodigital syndrome type 1 2
paths to the root