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
long QT syndrome type 2 13367
blepharophimosis-intellectual deficit syndrome, say-barber-biesecker-young-simpson type C536717
carnitine deficiency, systemic primary C536778
carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine C536778
infection by taenia saginata 367
winter shortland temple syndrome C536735
chromosome 21, tetrasomy 21q C536793
micrognathia, absent thumbs, & distal aphalangia cleidocranial dysplasia C536719
NBIA due to C19orf12 mutation 13674
systemic, due to defect in renal reabsorption of carnitine carnitine deficiency C536778
chromosome xq trisomy C536732
chromosome 22, trisomy C536799
chromosome 2, trisomy 2q C535367
chromosome 22 trisomy mosaic C536796
x chromosome, trisomy xp3 C536756