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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:frontometaphyseal dysplasia 1
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Accession:DOID:0111786 term browser browse the term
Definition:A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, and urogenital defects that has_material_basis_in homozygous or hemizygous mutation in FLNA on chromosome Xq28. (DO)
Synonyms:exact_synonym: FMD1
 primary_id: OMIM:305620


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frontometaphyseal dysplasia 1 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: FRONTOMETAPHYSEAL DYSPLASIA 1 | ClinVar Annotator: match by term: Frontometaphyseal dysplasia 1 OMIM
ClinVar		 PMID:9071288 PMID:10982489 PMID:12612583 PMID:15523633 PMID:15917206 More... NCBI chr  X:143,799,088...143,825,282 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15697
    Developmental Disease 13612
      bone development disease 2303
        osteochondrodysplasia 871
          otopalatodigital syndrome spectrum disorder 12
            frontometaphyseal dysplasia 10
              frontometaphyseal dysplasia 1 1
Path 2
Term Annotations click to browse term
  disease 15697
    Developmental Disease 13612
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12656
        Congenital Abnormalities 7512
          Musculoskeletal Abnormalities 3285
            Congenital Limb Deformities 1029
              Congenital Upper Extremity Deformities 214
                Congenital Hand Deformities 188
                  otopalatodigital syndrome spectrum disorder 12
                    frontometaphyseal dysplasia 10
                      frontometaphyseal dysplasia 1 1
paths to the root