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| Term | acrorenal syndrome | ID (Ontology) | DOID:0060347 (Human Disease) |
| Definition | A syndrome characterized by limb defects, usually bilateral, like cleft hands or feet and longitudinal defects involving radius or ulna, tibia or fibula and renal anomalies which include agenesis, hypoplasia and rarely polycystic kidneys. Additional malformations may involve the oro-mandibular region, the trachea and lungs, skin derivatives including sweat glands, mammary glands, the uterus, vas deferens, the nasal placodes and the eyes. | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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No relevant statements available
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autosomal genetic disease |__autosomal recessive disease__ disease | |__syndrome_____________________| acrorenal syndrome |
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| Is a |
autosomal recessive disease syndrome |
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External Crossreferences & Linkouts
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MESH:C563159 MIM:102520 MIM:201310 SNOMEDCT_US_2023_03_01:720458005 UMLS_CUI:C3495490 |
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