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


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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 DNA:missense mutations, deletions:cds:multiple (human)
ClinVar Annotator: match by term: FRONTOMETAPHYSEAL DYSPLASIA 1
ClinVar Annotator: match by term: Frontometaphyseal dysplasia
ClinVar Annotator: match by term: Frontometaphyseal dysplasia 1
OMIM
ClinVar
PMID:9071288 PMID:15523633 PMID:15917206 PMID:16596676 PMID:16835913 PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31064749, PMID:16835913 RGD:11063279 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 17126
    Developmental Disease 10894
      bone development disease 1413
        osteochondrodysplasia 474
          otopalatodigital syndrome spectrum disorder 4
            frontometaphyseal dysplasia 2
              frontometaphyseal dysplasia 1 1
Path 2
Term Annotations click to browse term
  disease 17126
    Developmental Disease 10894
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9430
        Congenital Abnormalities 5555
          Musculoskeletal Abnormalities 2219
            Congenital Limb Deformities 455
              Congenital Upper Extremity Deformities 90
                Congenital Hand Deformities 75
                  otopalatodigital syndrome spectrum disorder 4
                    frontometaphyseal dysplasia 2
                      frontometaphyseal dysplasia 1 1
paths to the root