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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:temtamy preaxial brachydactyly syndrome
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Accession:DOID:0050814 term browser browse the term
Definition:A syndrome that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene. (DO)
Synonyms:exact_synonym: Preaxial brachydactyly syndrome, Temtamy type;   TPBS
 primary_id: MESH:C536958
 alt_id: OMIM:605282
 xref: GARD:9679;   ORDO:363417
For additional species annotation, visit the Alliance of Genome Resources.



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temtamy preaxial brachydactyly syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chsy1 chondroitin sulfate synthase 1 ISO ClinVar Annotator: match by term: Temtamy preaxial brachydactyly syndrome OMIM
ClinVar
PMID:9823490 PMID:19952732 PMID:21129727 PMID:21129728 PMID:25741868 More... NCBI chr 1:119,689,626...119,750,711
Ensembl chr 1:119,686,350...119,750,601
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    syndrome 9456
      temtamy preaxial brachydactyly syndrome 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        central nervous system disease 11253
          brain disease 10538
            disease of mental health 7449
              developmental disorder of mental health 4824
                specific developmental disorder 4065
                  intellectual disability 3879
                    temtamy preaxial brachydactyly syndrome 1
paths to the root