DISEASES

Disease-gene associations mined from literature

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Human genes for chondrodysplasia Blomstrand type

Chondrodysplasia Blomstrand type [DOID:0060387]

An osteochondrodysplasia that is characterized by rapid endochondral bone maturation, short limbs, dwarfism and prenatal lethality, has_material_basis_in autosomal recessive inheritance of mutation in the PTH1R gene.

Synonyms:  chondrodysplasia Blomstrand type,  chondrodysplasia Blomstrand types,  DOID:0060387,  Blomstrand lethal chondrodysplasia,  Blomstrand lethal chondrodysplasias

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.