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ONTOLOGY REPORT - ANNOTATIONS


Term:temtamy preaxial brachydactyly syndrome
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Accession:DOID:0050814 term browser browse the term
Definition:An autosomal recessive disease 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;   RDO:0002691
 xref: GARD:9679
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temtamy preaxial brachydactyly syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chsy1 chondroitin sulfate synthase 1 JBrowse link 1 127,010,587 127,071,570 RGD:7240710
RGD:8554872

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Path 1
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  disease 15620
    syndrome 5159
      temtamy preaxial brachydactyly syndrome 1
Path 2
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  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        central nervous system disease 8096
          brain disease 7565
            disease of mental health 5517
              developmental disorder of mental health 2710
                specific developmental disorder 1882
                  intellectual disability 1705
                    temtamy preaxial brachydactyly syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.