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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:brachydactyly type E2
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Accession:DOID:0110976 term browser browse the term
Definition:A characterized byautosomal dominant inheritance of short stature, tooth abnormalities, and short metacarpals and metatarsals that has_material_basis_in heterozygous mutation in the PTHLH gene on chromosome 12p. (DO)
Synonyms:exact_synonym: BDE2;   PTHLH-RELATED CONDITION
 primary_id: MIM:613382


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brachydactyly type E2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pthlh parathyroid hormone-like hormone ISO ClinVar Annotator: match by term: Brachydactyly type E2 | ClinVar Annotator: match by term: PTHLH-related condition OMIM
ClinVar		 PMID:20170896 PMID:25741868 PMID:25801215 PMID:26640227 PMID:26763883 More... NCBI chr 4:181,919,400...181,930,454
Ensembl chr 4:181,919,400...181,930,454 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19150
    physical disorder 5205
      Congenital Foot Deformities 190
        brachydactyly type E2 1
Path 2
Term Annotations click to browse term
  disease 19150
    disease of anatomical entity 18459
      musculoskeletal system disease 8480
        connective tissue disease 5931
          bone disease 4372
            bone development disease 2347
              dysostosis 641
                brachydactyly 33
                  Brachydactyly, Type E 4
                    brachydactyly type E2 1
paths to the root