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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



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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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
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 21155
    syndrome 10787
      temtamy preaxial brachydactyly syndrome 1
Path 2
Term Annotations click to browse term
  disease 21155
    disease of anatomical entity 18219
      nervous system disease 14053
        Neurologic Manifestations 10029
          sensory system disease 6928
            Otorhinolaryngologic Diseases 1722
              auditory system disease 983
                Hearing Disorders 811
                  Hearing Loss 806
                    Deafness 362
                      temtamy preaxial brachydactyly syndrome 1
paths to the root