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
porphyrias, acute intermittent D017118
anhidrosis caused by mutation in ITPR2 7118
hydroxymethylbilane synthase deficiencies D017118
porphobilinogen deaminase deficiencies D017118
uroporphyrinogen synthase deficiencies D017118
syndrome with a cerebellar malformation as major feature 17118
isolated generalized anhidrosis with normal sweat glands 7118
deficiencies, porphobilinogen deaminase D017118
deficiency, porphobilinogen deaminase D017118
synthase deficiencies, hydroxymethylbilane D017118
synthase deficiency, hydroxymethylbilane D017118
leri type pleonosteosis C537118
deaminase deficiencies, porphobilinogen D017118
deaminase deficiency, porphobilinogen D017118
swedish type porphyria D017118