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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 2
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Accession:DOID:0111784 term browser browse the term
Definition:An otopalatodigital syndrome spectrum disorder characterized by disabling skeletal anomalies and variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death in males and less severe phenotypes in females that has_material_basis_in hemizygous or heterozygous mutation in exons 3, 4 ,or 5 in males or exons 28 or 29 in females of FLNA on chromosome Xq28. (DO)
Synonyms:exact_synonym: Andre syndrome;   Cranioorodigital Syndrome;   FPO;   Faciopalatoosseous syndrome;   OPD II Syndrome;   OPD Syndrome 2;   OPD Syndrome, Type 2;   OPD2;   Oto-Palato-Digital Syndrome, Type 2;   cranio-oro-digital syndrome;   otopalatodigital syndrome type II
 primary_id: MESH:C538089
 alt_id: OMIM:304120
 xref: GARD:5802;   ORDO:90652
For additional species annotation, visit the Alliance of Genome Resources.



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otopalatodigital syndrome type 2 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.E254K (human)
ClinVar Annotator: match by term: Faciopalatoosseous syndrome | ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II
OMIM
CTD
ClinVar
RGD
PMID:9071288 PMID:10982489 PMID:12410386 PMID:12612583 PMID:15194946 More... RGD:1598954 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
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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 2 1
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 2 1
paths to the root