Mondo Description Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the MAP3K7 gene.
Uniprot Description A form of frontometaphyseal dysplasia, a progressive sclerosing skeletal dysplasia affecting the long bones and skull. Characteristic features include supraorbital hyperostosis, cranial hyperostosis, undermodeling of the small bones, flared metaphyses, and digital anomalies. Extra-skeletal manifestations include hearing loss, cardiac malformations, and stenosis, particularly of the upper airway and urinary tract. FMD2 inheritance is autosomal dominant.
Mondo Term and Equivalent IDs
MONDO:0014935: frontometaphyseal dysplasia 2