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193 results
  1. Nail-Patella Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1132
    ... posted live 14 April 2003 (im) Original submission References Literature Cited Aboobacker IN, Krishnakumar A, Narayanan S, Hafeeque B, Gopinathan JC, Aziz F. Nail-patella syndrome: a rare cause of nephrotic syndrome in pregnancy. ...
  2. Kidney Diseases 
    https://medlineplus.gov/kidneydiseases.html
    Properly functioning kidneys are critical for maintaining good health. Diabetes, high blood pressure, or family history can increase risk of kidney disease.
  3. 2019New_Mesh_Tree_Hierarchy.txt 
    https://www.nlm.nih.gov/.../download/2019New_Mesh_Tree_Hierarchy.txt
    ... 550.610.500 Morton Neuroma C05.550.629 Nail-Patella Syndrome C05.550.648 Osteoarthropathy, Primary Hypertrophic C05.550. ... 131.077.592 Monilethrix C16.131.077.606 Nail-Patella Syndrome C16.131.077.619 Netherton Syndrome C16.131. ...
  4. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/nail-patella-syndrome</url><title >Nail-patella syndrome</title><other_names >< ...
  5. Schimke Immunoosseous Dysplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1376
    ... lack of neurologic sequelae in conorenal syndrome LMX1B Nail-patella syndrome (NPS) AD NPS is assoc w/classic clinical tetrad of changes in nails, knees, & elbows, & presence of iliac horns. In NPS ...
  6. Nail Diseases | Fingernails | MedlinePlus 
    https://medlineplus.gov/naildiseases.html
    ... Anonychia congenita: MedlinePlus Genetics (National Library of Medicine) Nail-patella syndrome: MedlinePlus Genetics (National Library of Medicine) Nonsyndromic congenital ...
  7. Sphingosine Phosphate Lyase Insufficiency Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK562988
    ... Adrenal calcifications Hepatic fibrosis & cirrhosis; intestinal malabsorption LMX1B Nail-patella syndrome AD Steroid-resistant nephrotic syndrome; sensorineural hearing loss ...
  8. Dyskeratosis Congenita and Related Telomere Biology Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK22301
    ... AR Onychauxis, hyponychia, & onycholysis Nonsyndromic nail disorder LMX1B Nail-patella syndrome AD Classic clinical tetrad of changes in nails, knees, & elbows, & presence of iliac horns Nails may ...
  9. KAT6B Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK114806
    ... runs from the lower lids inwards & upwards) LMX1B Nail-patella syndrome AD Absent patella; renal anomalies; flexion deformities of knees & hips, clubfoot Proteinuria; open-angle glaucoma; nail changes RECQL4 RAPADILINO syndrome (OMIM 266280 ) AR Patellar hypoplasia; hearing loss; cleft ...
  10. Genetic Steroid-Resistant Nephrotic Syndrome Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK573219
    ... DD, cognitive impairment (OMIM 609049 ) LMX1B 2 AD Nail-patella syndrome : limb & pelvic abnormalities (absent or hypoplastic patella, elbow abnormalities, iliac horns), absent or dystrophic nails & distal digital abnormalities, eye abnormalities including glaucoma MAFB ...
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