Primary hypertrophic osteoarthropathy
Synonyms: Idiopathic hypertrophic osteoarthropathy · PHO
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Primary hypertrophic osteoarthropathy (PHO) is a genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary hypertrophic osteoarthropathy | Idiopathic hypertrophic osteoarthropathy · PHO |
| fr | Ostéoarthropathie hypertophique primitive | OHP · Ostéoarthropathie hypertophique idiopathique · PHO |
| de | Osteoarthropathie, hypertrophe primäre | |
| es | Osteoartropatía hipertrófica primaria | Osteoartropatía hipertrófica idiopática · PHO |
| it | Osteoartropatia ipertrofica primitiva | Osteoartropatia ipertrofica idiopatica · PHO |
| nl | Primaire hypertrofische osteoartropathie | Idiopathische hypertrofische osteoartropathie · PHO |
| pt | Osteoartropatia hipertrófica primária | PHO |
| pl | Pierwotna osteoartropatia przerostowa | Idiopatyczna osteoartropatia przerostowa · PHO |
| cs | Primární hypertrofická osteoartopatie | Idiopatická hypertrofická osteoartropatie · PHOA |
| uk | Первинна гіпертрофічна остеоартропатія | Ідіопатична гіпертрофічна остеоартропатія · PHO |
| zh | 原发性肥厚性骨关节病 | 特发性肥厚性骨关节病 |
| tr | Primer hipertrofik osteoartropati | PHO · İdiyopatik hipertrofik osteoartropati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0016620 | E | validated | |
| MONDO | 16620 | E | validated | |
| MeSH | D010004 | E | validated | |
| UMLS | C0029411 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:93444Primary bone dysplasia with increased bone density
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/248095
- This record as JSON: /data/d/248095.json