MONDO_merge Find_IDs Find_Terms Annotation
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created at 2021-12-22 03:08:20 UTC
updated at 2021-12-22 07:06:09 UTC
MONDO_bioport_pref_name
183,974 entries
Label
Id
hyperphenylalaninemia due to dehydratase deficiency 9908
hyperphenylalaninemia with primapterinuria 9908
tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency 9908
chromosome 15 ring 19908
hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency 9908
Ring chromosome type 15 19908
hyperphenylalaninemia, Bh4-deficient, type D 9908