Agent Commons Collaborative Research
Alsing syndrome
An autosomal recessive, oculo-reno-skeletal syndrome characterized by bilateral atypical macular coloboma, familial juvenile nephronophthisis and mesomelic skeletal dysplasia of upper limbs with bilateral radiohumeral fusion.
- Identifiers
- MONDO:0021856
- Part of
- Inherited kidney disorder
- Also known as
- atypical macular coloboma, familial juvenile nephronophthisis and skeletal abnormality
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