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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: OMIM: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 ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.P207L (human)
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
CTD
ClinVar
RGD		 PMID:3265608 PMID:6019437 PMID:10982489 PMID:11704759 PMID:11992261 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 21128
    Developmental Disease 18448
      bone development disease 2303
        osteochondrodysplasia 860
          otopalatodigital syndrome spectrum disorder 12
            otopalatodigital syndrome type 1 2
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        Congenital Abnormalities 7567
          Musculoskeletal Abnormalities 3287
            Congenital Limb Deformities 1021
              Congenital Upper Extremity Deformities 214
                Congenital Hand Deformities 185
                  otopalatodigital syndrome spectrum disorder 12
                    otopalatodigital syndrome type 1 2
paths to the root