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
autosomal recessive congenital nuclear cataract C537298
hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) [ambiguous] http://purl.obolibrary.org/obo/MONDO_0010298
HPRT deficiency, complete 10298
pellucid marginal degeneration 15298
chromosome 5q12 deletion syndrome 14298
HPRT complete deficiency 10298
Lesch Nyhan disease 10298
vitamin deficiency disorder 24298
Dioctophyme renale disease or disorder 298
obsolete neuromuscular disease 2986.0
Vitamin deficiency disorder http://purl.obolibrary.org/obo/MONDO_0024298
FGF8 hypogonadotropic hypogonadism 12988
disease or disorder of stomach 4298
die Smulders droog van dijk syndrome 22981
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 20298