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All terms in MONDO

Label Id Description
enhanced S-cone syndrome MONDO_0100288
Goldmann-Favre syndrome MONDO_0100289
46,XX sex reversal 1 MONDO_0100250
46,XX testicular disorder of sex development MONDO_0100249
familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO_0100251
disorder of O-N-acetylgalactosaminylglycan synthesis MONDO_0017743
familial tumoral calcinosis MONDO_0018891
tumoral calcinosis, hyperphosphatemic, familial, 1 MONDO_0100252
adenosine kinase deficiency MONDO_0100255
disorder of methionine catabolism MONDO_0000351
CTNNA1-related diffuse gastric and lobular breast cancer syndrome MONDO_0100256
hereditary breast carcinoma MONDO_0016419
phytanoyl-CoA hydroxylase deficiency MONDO_0100258
peroxisome biogenesis disorder due to PEX2 defect MONDO_0100260
peroxisome biogenesis disorder due to PEX3 defect MONDO_0100261
peroxisome biogenesis disorder due to PEX6 defect MONDO_0100263
peroxisome biogenesis disorder due to PEX10 defect MONDO_0100264
peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain MONDO_0100265
peroxisome biogenesis disorder due to PEX13 defect MONDO_0100267
peroxisome biogenesis disorder due to PEX16 defect MONDO_0100269