Progressive hemifacial atrophy (PHA) is a rare acquired disorder, characterized by unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved. [ Orphanet:1214 ]
Synonyms: parry-Romberg syndrome Romberg syndrome progressive facial hemiatrophy progressive hemifacial atrophy hemifacial atrophy
Term information
- UMLS:C0015458 (MONDO:equivalentTo)
- GARD:7338 (MONDO:GARD)
- SCTID:718224004 (MONDO:equivalentTo)
- NCIT:C116916 (MONDO:equivalentTo)
- OMIM:141300 (Orphanet:1214/e)
- MEDGEN:8761 (MONDO:equivalentTo)
- Orphanet:1214 (OMIM:141300)
- DOID:1757 (MONDO:equivalentTo)
- MESH:D005150 (MONDO:equivalentTo)
gard_rare, ordo_disorder, rare, nord_rare, orphanet_rare
This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'inflammatory disease' (MONDO:0021166) ontology branch (https://orcid.org/0000-0003-4830-7530, https://orcid.org/0000-0001-9310-0163)
http://identifiers.org/medgen/8761
http://linkedlifedata.com/resource/umls/id/C0015458
http://identifiers.org/snomedct/718224004
http://purl.obolibrary.org/obo/NCIT_C116916
https://omim.org/entry/141300
http://identifiers.org/mesh/D005150
http://www.orpha.net/ORDO/Orphanet_1214
http://purl.obolibrary.org/obo/DOID_1757