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coloboma (MONDO:0001476)
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kidney disease (MONDO:0005240)
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Alsing syndrome ()

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MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:21856
Name:Alsing syndrome
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.
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Synonyms:atypical macular coloboma, familial juvenile nephronophthisis and skeletal abnormality
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Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
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Disease Causing ClinVar Variants
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