Definition

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 the GNAS gene on chromosome 20q13.32.

Synonyms

ectopic ossification familial type
familial ectopic ossification

Cross References

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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progressive osseous heteroplasia

progressive osseous heteroplasia

Associated Genes

Associated Alleles

Associated Models