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Disease Ontology Browser
temtamy preaxial brachydactyly syndrome (DOID:0050814)
Alliance: disease page
Synonyms: PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE
Alt IDs: OMIM:605282
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.


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
12/05/2017
MGI 6.11
The Jackson Laboratory