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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 OMIM
ClinVar		 PMID:9823490 PMID:19952732 PMID:21129727 PMID:21129728 PMID:25741868 More... NCBI chr 3:39,844,227...39,916,484
Ensembl chr 3:39,844,195...40,021,573 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    syndrome 10064
      temtamy preaxial brachydactyly syndrome 1
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      nervous system disease 13207
        Neurologic Manifestations 9572
          sensory system disease 6589
            Otorhinolaryngologic Diseases 1674
              auditory system disease 950
                Hearing Disorders 774
                  Hearing Loss 769
                    Deafness 369
                      temtamy preaxial brachydactyly syndrome 1
paths to the root