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.
MONDO:0001476
coloboma
excluded_subClassOf
MONDO:0100191
inherited kidney disorder
is_a
atypical macular coloboma, familial juvenile nephronophthisis and skeletal abnormality
related