X-linked erythropoietic protoporphyria

Disease Term Disease ID Gene Symbol Classification References Source
X-LINKED ERYTHROPOIETIC PROTOPORPHYRIA
443197MONDO:0010420
ALAS2 Causal
10562540 10727444 18760763 23263862 23364466 23409301 23715323 25179834 26300302 33785075 457661
ClinGen ClinVar GWAS catalog Orphanet