DISEASES

Disease-gene associations mined from literature

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Human genes for trichorhinophalangeal syndrome type III

Trichorhinophalangeal syndrome type III [DOID:0080376]

A syndrome that is characterized by sparse hair, beaked nose, long upper lip, and severe metacarpophalangeal shortening and has_material_basis_in heterozygous mutation in the TRPS1 gene on chromosome 8q23.

Synonyms:  trichorhinophalangeal syndrome type III,  DOID:0080376,  trichorhinophalangeal syndrome type IIIs,  trichorhinophalangeal syndrome type 3

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.