Alsing syndrome
http://purl.obolibrary.org/obo/MONDO_0021856
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. [ https://orcid.org/0000-0001-5208-3432 PMID:3231430 ]
Term info
- GARD:0009213 (MONDO:equivalentTo)
- UMLS:C2931255 (MONDO:equivalentTo)
- MESH:C536588 (MONDO:equivalentTo)
gard_rare
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.
http://linkedlifedata.com/resource/umls/id/C2931255, http://identifiers.org/mesh/C536588
atypical macular coloboma, familial juvenile nephronophthisis and skeletal abnormality
MONDO:0021856
https://rarediseases.info.nih.gov/diseases/9213/alsing-syndrome