Preferred Name |
nail-patella syndrome |
|
Synonyms |
Turner-Kiser syndrome Turner-Kieser syndrome iliac horn syndrome hereditary onychoostedysplasia Onychoosteodysplasia nail patella syndrome Fong disease hereditary Osteo-onychodysplasia nail-patella syndrome Osteo-onychodysplasia Arthro-onychodysplasia NPS Nps1 NPS 1 |
|
Definitions |
Nail-patella syndrome (NPS) is 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://purl.obolibrary.org/obo/MONDO_0008061 |
|
database_cross_reference |
GARD:0007160 MESH:D009261 SCTID:22199006 UMLS:C0027341 NCIT:C75120 MedDRA:10063431 OMIM:161200 DOID:9467 ICD9:759.89 ICD10:Q87.2 Orphanet:2614 |
|
disease has basis in dysfunction of | ||
exactMatch |
http://identifiers.org/omim/161200 http://identifiers.org/meddra/10063431 http://purl.obolibrary.org/obo/DOID_9467 http://identifiers.org/mesh/D009261 http://linkedlifedata.com/resource/umls/id/C0027341 http://identifiers.org/snomedct/22199006 |
|
has exact synonym |
Turner-Kiser syndrome Turner-Kieser syndrome iliac horn syndrome hereditary onychoostedysplasia Onychoosteodysplasia nail patella syndrome Fong disease hereditary Osteo-onychodysplasia nail-patella syndrome |
|
has related synonym |
Osteo-onychodysplasia Arthro-onychodysplasia NPS Nps1 NPS 1 |
|
id |
MONDO:0008061 |
|
imported from | ||
in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/mondo#gard_rare http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_malformation_syndrome |
|
label |
nail-patella syndrome |
|
notation |
MONDO:0008061 |
|
prefLabel |
nail-patella syndrome |
|
see also |
https://rarediseases.info.nih.gov/diseases/7160/nail-patella-syndrome |
|
textual definition |
Nail-patella syndrome (NPS) is 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. |
|
subClassOf |
http://purl.obolibrary.org/obo/MONDO_0000426 http://purl.obolibrary.org/obo/MONDO_0019285 http://purl.obolibrary.org/obo/MONDO_0019712 |