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
HPABH4D 9908
R15 19908
Ring 15 19908
CADH deficiency 9908
PCBD deficiency 9908
PCBD1 deficiency 9908
PCD deficiency 9908
dehydratase deficiency 9908
hyperphenylalaninemia due to dehydratase deficiency 9908
ring chromosome 15 19908
Ring chromosome 15 syndrome 19908
pterin-4 alpha-carbinolamine dehydratase 1 deficiency 9908
pterin-4 alpha-carbinolamine dehydratase deficiency 9908
tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency 9908
hyperphenylalaninemia, BH4-deficient, D 9908