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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:acrocapitofemoral dysplasia
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Accession:DOID:0050604 term browser browse the term
Definition:An osteochondrodysplasia characterized by skeletal dysplasia, bradydactyly and narrow thorax and has_material_basis_in mutations in the Indian hedgehog homolog gene. (DO)
Synonyms:exact_synonym: ACFD
 primary_id: MESH:C564334
 alt_id: OMIM:607778;   RDO:0013338
 xref: GARD:10605
For additional species annotation, visit the Alliance of Genome Resources.



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acrocapitofemoral dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ihh Indian hedgehog signaling molecule ISO DNA:point mutations:CDS:p.P46L (137C>T), p.V190A (T569T>C) (human)
ClinVar Annotator: match by OMIM:607778
ClinVar Annotator: match by term: Acrocapitofemoral dysplasia
OMIM
ClinVar
RGD
PMID:12632327 PMID:25741868 PMID:12632327 RGD:1600033 NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    Developmental Disease 10988
      bone development disease 1424
        osteochondrodysplasia 479
          acrocapitofemoral dysplasia 1
Path 2
Term Annotations click to browse term
  disease 17286
    disease of anatomical entity 16621
      Skin and Connective Tissue Diseases 5861
        connective tissue disease 4445
          bone disease 3122
            bone development disease 1424
              dysostosis 394
                brachydactyly 31
                  acrocapitofemoral dysplasia 1
paths to the root