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Summary Literature (0)
DOID:0050814 - temtamy preaxial brachydactyly syndrome


Disease Ontology 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.

Synonyms: PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE

Referenced OMIM:
OMIM:605282 - TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME; TPBS

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : chsy1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal recessive disease (is_a), syndrome (is_a)


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Version: 4.15.0
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