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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



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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 IAGP
EXP
DNA:missense mutation:cds:p.P207L (human)
ClinVar Annotator: match by term: Oto-palato-digital syndrome, type I
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: OPD syndrome 1
ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type I
ClinVar Annotator: match by term: OPD syndrome 1 | ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type I
ClinVar
OMIM
CTD
RGD
PMID:3265608 PMID:6019437 PMID:9071288 PMID:10982489 PMID:11704759 More... RGD:1598954 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G LOC107988032 Xq28 proximal FLNA-EMD recombination region IAGP ClinVar Annotator: match by term: OPD syndrome 1 ClinVar PMID:25741868 PMID:28492532 PMID:37175682 NCBI chr  X:154,335,912...154,349,572 JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:16783569 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 121157
    Developmental Disease 43255
      bone development disease 3452
        osteochondrodysplasia 1292
          otopalatodigital syndrome spectrum disorder 16
            otopalatodigital syndrome type 1 3
Path 2
Term Annotations click to browse term
  disease 121157
    Developmental Disease 43255
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 36556
        Congenital Abnormalities 16266
          Musculoskeletal Abnormalities 6276
            Congenital Limb Deformities 1477
              Congenital Upper Extremity Deformities 388
                Congenital Hand Deformities 260
                  otopalatodigital syndrome spectrum disorder 16
                    otopalatodigital syndrome type 1 3
paths to the root