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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 |
| Has_NICHD_Parent | |
| label |
Nail-Patella Syndrome |
| Legacy_Concept_Name |
Nail_Patella_Syndrome |
| NICHD_Hierarchy_Term |
Nail-Patella Syndrome |
| Preferred_Name |
Nail-Patella Syndrome |
| prefixIRI |
C75120 |
| prefLabel |
Nail-Patella Syndrome |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0027341 |
| subClassOf |
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