has material basis in germline mutation in GNAS progressive osseous heteroplasia https://github.com/monarch-initiative/mondo/issues/6882 https://rarediseases.info.nih.gov/diseases/109/progressive-osseous-heteroplasia https://www.malacards.org/card/osseous_heteroplasia_progressive osseous heteroplasia, progressive OMIM:166350 Orphanet:2762 poh DOID:0111535 GARD:0000109 MEDGEN:137714 A rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism (see these terms), and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation. UMLS:C0334041 NORD:1618 POH ectopic ossification familial type SCTID:719271000 MedDRA:10048902 familial ectopic ossification MESH:C562735 icd11.foundation:1107209347 MONDO:0008153 obsolete primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments dermis disorder hereditary skin disorder disorder of GNAS inactivation