Alsing syndrome
MONDO:0021856Mondo
Findings
No curated finding names Alsing syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0021856), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of