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
Mhbd deficiency http://purl.obolibrary.org/obo/MONDO_0010327
3-hydroxyacyl-CoA dehydrogenase 2 deficiency 10327
3-hydroxyacyl-Coa dehydrogenase 2 deficiency http://purl.obolibrary.org/obo/MONDO_0010327
hydroxyacyl-CoA dehydrogenase II deficiency 10327
mental retardation, X-linked, syndromic 10 10327
mental retardation, X-linked, syndromic type 10 10327
2-Methyl-3-hydroxybutyryl-Coa dehydrogenase deficiency http://purl.obolibrary.org/obo/MONDO_0010327
HSD10 deficiency, atypical type 10327
17 beta-hydroxysteroid dehydrogenase type 10 deficiency 10327
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency 10327
3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency 10327
HSD10 mitochondrial disease; HSD10MD http://purl.obolibrary.org/obo/MONDO_0010327
X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome 10327
HSD10 mitochondrial disease 10327
syndromic X-linked intellectual disability type 10 10327