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progressive osseous heteroplasia

Disease Summary
Associated Targets (4)
Tbio

4


Explore Associated Targets
Mondo Description 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.
Uniprot Description Rare autosomal dominant disorder characterized by extensive dermal ossification during childhood, followed by disabling and widespread heterotopic ossification of skeletal muscle and deep connective tissue.
Mondo Term and Equivalent IDs
MONDO:0008153:  progressive osseous heteroplasia
DOID:0111535: 
GARD:0000109: 
MESH:C562735: 
Orphanet:2762: 
SCTID:719271000: 
UMLS:C0334041: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)