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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:trichorhinophalangeal syndrome type III
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Accession:DOID:0080376 term browser browse the term
Definition:A syndrome that is characterized by sparse hair, beaked nose, long upper lip, and severe metacarpophalangeal shortening and has_material_basis_in heterozygous mutation in the TRPS1 gene on chromosome 8q23. (DO)
Synonyms:exact_synonym: Sugio-Kajii syndrome;   TRPS3;   trichorhinophalangeal syndrome type 3
 primary_id: MESH:C566033
 alt_id: OMIM:190351
 xref: ORDO:77258


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10832
      Trichorhinophalangeal Syndrome 59
        trichorhinophalangeal syndrome type III 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      musculoskeletal system disease 8271
        connective tissue disease 5757
          bone disease 4270
            bone development disease 2303
              osteochondrodysplasia 860
                Trichorhinophalangeal Syndrome 59
                  trichorhinophalangeal syndrome type III 1
paths to the root