Salla disease

Disease Term Disease ID Gene Symbol Classification References Source
INTERMEDIATE SEVERE SALLA DISEASE
309331C5681076MONDO:0017737
SLC17A5 Causal
20301643
Disgenet GWAS catalog Orphanet
SALLA DISEASE
309334604369C1096903MONDO:0011449
SLC17A5 Causal
20301643
ClinVar Disgenet GenCC HPO Orphanet
RAG2 Unknown — Disgenet