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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 FLNA 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
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by term: Terminal osseous dysplasia
ClinVar Annotator: match by term: TERMINAL OSSEOUS DYSPLASIA AND PIGMENTARY DEFECTS
OMIM
ClinVar
PMID:9800904 PMID:10982965 PMID:15864382 PMID:17152064 PMID:20598277 PMID:25614868 PMID:25741868 PMID:26059211 PMID:28492532 PMID:30561107 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      terminal osseous dysplasia 1
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        Congenital Abnormalities 4721
          Musculoskeletal Abnormalities 1677
            Congenital Limb Deformities 454
              Congenital Upper Extremity Deformities 89
                Congenital Hand Deformities 74
                  terminal osseous dysplasia 1
paths to the root