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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 FLNA 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: OMIM:311300
 xref: GARD:5121;   NCI:C118845;   ORDO:90650
For additional species annotation, visit the Alliance of Genome Resources.



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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: Oto-palato-digital syndrome, type I | ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type I
DNA:missense mutation:cds:p.P207L (human)
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
RGD
PMID:11704759 PMID:11992261 PMID:12612583 PMID:15194946 PMID:15917206 More... RGD:1598954 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
G Ofd1 Ofd1 centriole and centriolar satellite protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16783569 NCBI chr  X:28,015,347...28,056,115
Ensembl chr  X:28,015,347...28,056,110
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      bone development disease 1760
        osteochondrodysplasia 605
          otopalatodigital syndrome spectrum disorder 4
            otopalatodigital syndrome type 1 2
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        Congenital Abnormalities 6483
          Musculoskeletal Abnormalities 2678
            Congenital Limb Deformities 588
              Congenital Upper Extremity Deformities 122
                Congenital Hand Deformities 94
                  otopalatodigital syndrome spectrum disorder 4
                    otopalatodigital syndrome type 1 2
paths to the root