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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 OMIM:605282
ClinVar Annotator: match by term: Temtamy preaxial brachydactyly syndrome
OMIM
ClinVar
PMID:9823490, PMID:19952732, PMID:21129727, PMID:21129728, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 1:127,010,587...127,071,570
Ensembl chr 1:127,010,588...127,071,570
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      temtamy preaxial brachydactyly syndrome 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          brain disease 8346
            disease of mental health 6016
              developmental disorder of mental health 3136
                specific developmental disorder 2310
                  intellectual disability 2131
                    temtamy preaxial brachydactyly syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.