Preferred Name |
Nail-Patella Syndrome [Disease/Finding] |
|
Synonyms |
Onychoosteodysplasia |
|
ID |
http://purl.bioontology.org/ontology/NDFRT/N0000002104 |
|
altLabel |
Onychoosteodysplasia Hereditary Onycho-Osteodysplasia Osteo-Onychodysplasia, Hereditary Nail-Patella Syndrome Turner-Kieser Syndrome Osterreicher Syndrome Hereditary Osteo-Onychodysplasias Pelvic Horn Syndrome Fong Disease |
|
cui |
C0027341 |
|
MESH DEFINITION |
A syndrome of multiple abnormalities characterized by the absence or hypoplasia of the PATELLA and congenital nail dystrophy. It is a genetically determined autosomal dominant trait. |
|
MESH DUI |
D009261 |
|
MeSH name |
Nail-Patella Syndrome |
|
MESH UI |
M0014428 |
|
NDFRT kind |
DISEASE_KIND |
|
notation |
N0000002104 |
|
NUI |
N0000002104 |
|
prefLabel |
Nail-Patella Syndrome [Disease/Finding] |
|
SNOMED CID |
22199006 |
|
tui |
T047 |
|
subClassOf |
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