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
trisomy 6q, partial C537810
chromosome 7, partial deletion of short arm (7p2-) C537818
chromosome 7, partial monosomy 7p C537818
chromosome 6, partial trisomy 6q C537810
combined oxidative phosphorylation deficiency 29 14781
combined oxidative phosphorylation deficiency 29; COXPD29 14781
combined oxidative phosphorylation deficiency 36 54781
combined oxidative phosphorylation deficiency 36; COXPD36 http://purl.obolibrary.org/obo/MONDO_0054781
combined oxidative phosphorylation deficiency caused by mutation in TXN2 14781
combined oxidative phosphorylation deficiency type 29 14781
ataxia and polyneuropathy, adult-onset 10781
obsolete hantavirus pulmonary syndrome 5781.0
interleukin 1 receptor antagonist deficiency C557815
hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant 7818
chromosome 7 ring syndrome C537813