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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

Xenbase Genes : chsy1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011533 - temtamy preaxial brachydactyly syndrome

MIM:
MIM:605282 - TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME; TPBS

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), syndrome (is_a)