loading...| Preferred Name |
Nail-patella syndrome |
|
| Synonyms |
Onychoosteodysplasia |
|
| Definitions |
A rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_2614 |
|
| alternative_term |
Onychoosteodysplasia Turner-Kieser syndrome |
|
| definition |
A rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2614 |
|
| has_age_of_onset |
Childhood Infancy Neonatal |
|
| has_inheritance |
Autosomal dominant |
|
| hasDbXref |
ICD-11:LD24.J0 ICD-10:Q87.2 MeSH:D009261 UMLS:C0027341 MedDRA:10063431 OMIM:161200 |
|
| label |
Nail-patella syndrome |
|
| notation |
ORPHA:2614 |
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_79370 http://www.orpha.net/ORDO/Orphanet_98638 |
|
| prefixIRI |
ORDO:Orphanet_2614 |
|
| prefLabel |
Nail-patella syndrome |
|
| present_in |
Europe AND has_birth_prevalence_average_value : 0.2 AND has_birth_prevalence_range : 1-9 / 1 000 000 Australia AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_average_value : 2.2 AND has_point_prevalence_range : 1-9 / 100 000 |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_79370 http://www.orpha.net/ORDO/Orphanet_98638 |
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| subClassOf |