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
hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pterin-4-Alpha-carbinolamine dehydratase deficiency 9908
CADH deficiency 9908
PCBD deficiency 9908
PCBD1 deficiency 9908
PCD deficiency 9908
dehydratase deficiency 9908
ring chromosome 15 19908
Ring chromosome 15 syndrome 19908
hyperphenylalaninemia, BH4-deficient, D 9908
hyperphenylalaninemia, BH4-deficient, D; HPABH4D http://purl.obolibrary.org/obo/MONDO_0009908
pterin-4 alpha-carbinolamine dehydratase 1 deficiency 9908
pterin-4 alpha-carbinolamine dehydratase deficiency 9908