NCIt related terms : Progressive Osseous Heteroplasia;
NCIt definition : Loss of function mutation(s) in the paternal allele of the GNAS gene, encoding guanine
nucleotide-binding protein G(s) subunit alpha isoforms short resulting in dermal ossification
beginning in infancy, followed by increasing and extensive heterotopic bone formation
in deep muscle and fascia.;
Alternative definition : NICHD: A condition caused by loss of function mutation(s) in the paternal allele of
the GNAS gene, encoding guanine nucleotide-binding protein G(s) subunit alpha isoforms
short. This condition is characterized by dermal ossification beginning in infancy,
followed by increasing and extensive heterotopic bone formation in deep muscle and
fascia. Other features of Albright hereditary osteodystrophy and hormone resistance
are absent.;
Automatic exact mappings (from CISMeF team)