loading...| Preferred Name |
Ankylosing vertebral hyperostosis with tylosis |
|
| Synonyms |
|
|
| Definitions |
A rare dysostosis with predominant vertebral involvement characterized by paraspinal ligament ossification (most pronounced in the lower thoracic region), osteophytosis, marginal sacroiliac joint sclerosis, and punctate hyperkeratosis on the soles and palms. Patients may be asymptomatic or present mild to moderate back pain. There have been no further descriptions in the literature since 1969. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_2206 |
|
| definition |
A rare dysostosis with predominant vertebral involvement characterized by paraspinal ligament ossification (most pronounced in the lower thoracic region), osteophytosis, marginal sacroiliac joint sclerosis, and punctate hyperkeratosis on the soles and palms. Patients may be asymptomatic or present mild to moderate back pain. There have been no further descriptions in the literature since 1969. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2206 |
|
| has_age_of_onset |
Adult |
|
| has_inheritance |
Autosomal dominant |
|
| hasDbXref |
OMIM:106400 UMLS:C0020498 ICD-11:LD24.H ICD-10:M48.1 |
|
| label |
Ankylosing vertebral hyperostosis with tylosis |
|
| notation |
ORPHA:2206 |
|
| part_of | ||
| prefixIRI |
ORDO:Orphanet_2206 |
|
| prefLabel |
Ankylosing vertebral hyperostosis with tylosis |
|
| present_in |
Worldwide AND has_cases/families_value : 8.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 |
|
| treeView | ||
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://www.orpha.net/ORDO/Orphanet_2206 | EFO | SAME_URI | |
| http://purl.bioontology.org/ontology/OMIM/106400 | OMIM | LOOM | |
| http://www.limics.org/hrdo/rdfns#pat_id_2087 | HRDO | LOOM |