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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:terminal osseous dysplasia
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Accession:DOID:0112149 term browser browse the term
Definition:A syndrome characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma during infancy that has_material_basis_in heterozygous mutation in the FLNA gene on chromosome Xq28. (DO)
Synonyms:exact_synonym: ODPD;   ODPF;   ODPF syndrome;   TOD;   TODPD;   digital osseous dysplasia with facial pigmentary defects and multiple frenula;   terminal osseous dysplasia and pigmentary defects;   terminal osseous dysplasia-pigmentary defects syndrome
 primary_id: MESH:C564554
 alt_id: OMIM:300244
 xref: ORDO:88630



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terminal osseous dysplasia 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
ClinVar Annotator: match by term: Terminal osseous dysplasia | ClinVar Annotator: match by term: Terminal osseous dysplasia-pigmentary defects syndrome
OMIM
CTD
ClinVar
PMID:9536098 PMID:9800904 PMID:10982489 PMID:10982965 PMID:12612583 More... 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 21140
    syndrome 10749
      terminal osseous dysplasia 1
Path 2
Term Annotations click to browse term
  disease 21140
    Developmental Disease 18459
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18320
        Congenital Abnormalities 7478
          Musculoskeletal Abnormalities 3251
            Congenital Limb Deformities 1020
              Congenital Upper Extremity Deformities 215
                Congenital Hand Deformities 186
                  terminal osseous dysplasia 1
paths to the root