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skos:definition |
JABL: Symmetric ringed creases around the extremities which disappear later in life. They are reminiscent of these of the mascot of the tire manufacturer, Michelin, hence the name of the syndrome. Associated abnormalities vary and may include facial dysmorphism, upslanting palpebral fissures, hypertelorism, cleft palate, genital anomalies, mild developmental delay, ureterocele, smooth muscle hamartoma, nevus lipomatosus, Laron syndrome (dwarfism and high growth hormone and low somatomedin activity), and other defects.
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skos:inScheme | |
skos:broader | |
skos-xl:prefLabel | |
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umls:relation |
http://linkedlifedata.com/resource/umls/relation/R60652852,
http://linkedlifedata.com/resource/umls/relation/R60695827,
http://linkedlifedata.com/resource/umls/relation/R01048984,
http://linkedlifedata.com/resource/umls/relation/R01048985,
http://linkedlifedata.com/resource/umls/relation/R128718752,
http://linkedlifedata.com/resource/umls/relation/R128718753,
http://linkedlifedata.com/resource/umls/relation/R128718754,
http://linkedlifedata.com/resource/umls/relation/R129094973
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