DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for frontometaphyseal dysplasia

Frontometaphyseal dysplasia [DOID:0111785]

An otopalatodigital syndrome spectrum disorder characterized by abnormal ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism, urogenital anomalies, and hearing loss.

Synonyms:  frontometaphyseal dysplasia,  DOID:0111785,  frontometaphyseal dysplasias,  FMD

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.