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Metadata
ID DOID:0060347
Name acrorenal syndrome
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.
https://www.ncbi.nlm.nih.gov/pubmed/26019842
Xrefs

MESH:C563159

OMIM:102520

OMIM:201310

SNOMEDCT_US_2023_03_01:720458005

UMLS_CUI:C3495490

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

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