DISEASES

Disease-gene associations mined from literature

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Human genes for temtamy preaxial brachydactyly syndrome

Temtamy preaxial brachydactyly syndrome [DOID:0050814]

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:  temtamy preaxial brachydactyly syndrome,  DOID:0050814,  temtamy preaxial brachydactyly disease,  temtamy preaxial brachydactyly disorder,  temtamy preaxial brachydactyly syndromes ...

Linkouts:  OMIM

The disease-gene associations are derived from automatic text mining of the biomedical literature, manually curated database annotations, cancer mutation data, and genome-wide association studies. The confidence of each association is signified by stars, where ★★★★★ is the highest confidence and ★☆☆☆☆ is the lowest.

Developed by Sune Frankild, Alexander Junge, Albert Pallejà, Dhouha Grissa, Kalliopi Tsafou, and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.