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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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  disease 14759
    syndrome 4210
      temtamy preaxial brachydactyly syndrome 1
Path 2
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  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              developmental disorder of mental health 2584
                specific developmental disorder 1319
                  intellectual disability 1146
                    temtamy preaxial brachydactyly syndrome 1
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