Preferred Name |
Nail-Patella Syndrome |
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Synonyms |
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ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Nail_Patella_Syndrome |
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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. |
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FULL_SYN |
Hereditary Osteo-Onychodysplasia |
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isDefinedBy |
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. |
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label |
Nail-Patella Syndrome |
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prefixIRI |
Thesaurus:Nail_Patella_Syndrome |
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prefLabel |
Nail-Patella Syndrome |
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Synonym |
Hereditary Osteo-Onychodysplasia |
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subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Rare_Non-Neoplastic_Disorder |