Preferred Name |
nail-patella syndrome |
|
Synonyms |
NPS1 Turner-Kiser syndrome Turner-Kieser syndrome osteo-onychodysplasia iliac horn syndrome Nail Patella Syndrome hereditary onychoostedysplasia nail patella syndrome Fong disease onychoosteodysplasia hereditary Osteo-onychodysplasia nail-patella syndrome NPS 1 NPS arthro-onychodysplasia |
|
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://purl.obolibrary.org/obo/MONDO_0008061 |
|
closeMatch | ||
database_cross_reference |
MESH:D009261 SCTID:22199006 UMLS:C0027341 icd11.foundation:1121867410 NCIT:C75120 NORD:1488 MedDRA:10063431 OMIM:161200 DOID:9467 GARD:7160 ICD9:759.89 Orphanet:2614 |
|
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. |
|
exactMatch |
http://purl.obolibrary.org/obo/DOID_9467 http://purl.obolibrary.org/obo/Orphanet_2614 http://identifiers.org/mesh/D009261 http://linkedlifedata.com/resource/umls/id/C0027341 |
|
has_exact_synonym |
NPS1 Turner-Kiser syndrome Turner-Kieser syndrome osteo-onychodysplasia iliac horn syndrome Nail Patella Syndrome hereditary onychoostedysplasia nail patella syndrome Fong disease onychoosteodysplasia hereditary Osteo-onychodysplasia nail-patella syndrome NPS 1 |
|
has_related_synonym |
NPS arthro-onychodysplasia |
|
IAO_0000233 | ||
id |
MONDO:0008061 |
|
in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disease http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare http://purl.obolibrary.org/obo/mondo#otar http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/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 |
|
excluded_subClassOf | ||
subClassOf |
http://www.ebi.ac.uk/efo/EFO_0003966 http://purl.obolibrary.org/obo/MONDO_0000426 |