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
x chromosome, monosomy xp22 pter C536754
x chromosome, monosomy xq28 C536755
trisomy 22 mosaic C536796
trisomy 22 mosaicism syndrome C536796
variant form mucolipidosis III C565367
woods black norbury syndrome C536743
short stature, obesity and hypogonadism Sex-linked mental retardation C536715
uniparental disomy of 21 C536794
uniparental disomy of 22 C536796
plasma-membrane, deficiency of carnitine transporter C536778
spastic ataxia of charlevoix-saguenay C536787
uniparental disomy of chromosome 21 C536794
SBBYS variant of ohdo syndrome C536717
say-barber-biesecker-young-simpson variant of ohdo syndrome C536717
benign form of worth, with torus palatinus hyperostosis corticalis generalisata C536748