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loading...| Preferred Name |
Nail-Patella Syndrome |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75120 |
| ALT_DEFINITION |
A rare autosomal dominant syndrome caused by mutations in the LMX1B gene, which is characterized by dysplastic nails, absence or hypoplasia of the patellae, iliac horns, deformities of the radial heads, and nephropathy. |
| code |
C75120 |
| Concept_In_Subset | |
| Contributing_Source |
NICHD |
| DEFINITION |
A rare autosomal dominant syndrome caused by mutations in the LMX1B gene. It is characterized by fingernail deformities, absence or hypoplasia of the patellae, iliac horns, deformities of the radial heads, nephropathy, and glaucoma. |
| FULL_SYN |
Hereditary Osteo-Onychodysplasia Nail-Patella Syndrome |
| label |
Nail-Patella Syndrome |
| Legacy Concept Name |
Nail_Patella_Syndrome |
| Preferred_Name |
Nail-Patella Syndrome |
| prefixIRI |
Thesaurus:C75120 |
| prefLabel |
Nail-Patella Syndrome |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0027341 |
| subClassOf |
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