Human genes for progressive osseous heteroplasia
Progressive osseous heteroplasia [DOID:0111535]
A syndrome characterized by infantile onset of dermal ossification followed by progressive bone formation in skeletal muscle and deep fascia that has_material_basis_in heterozygous loss of function mutation in the Gs-alpha isoform of GNAS on chromosome 20q13.32.
Synonyms: progressive osseous heteroplasia, DOID:0111535, progressive osseous heteroplasias, ectopic ossification familial type, familial ectopic ossification ...