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
Hsd17B10 deficiency http://purl.obolibrary.org/obo/MONDO_0010327
Mhbd deficiency http://purl.obolibrary.org/obo/MONDO_0010327
frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome 13271
Gefs+, Type 10 32777
COFFIN-SIRIS SYNDROME 10 32791
Coffin-Siris syndrome 10 32791
17-beta-hydroxysteroid dehydrogenase 10 deficiency 10327
17-Beta-hydroxysteroid dehydrogenase 10 deficiency http://purl.obolibrary.org/obo/MONDO_0010327
3-hydroxyacyl-Coa dehydrogenase 2 deficiency http://purl.obolibrary.org/obo/MONDO_0010327
frontonasal dysplasia 3 13271
NOONAN SYNDROME 11 32786
Noonan syndrome 11 32786
autosomal recessive 12 deafness C563327
HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2 32766
hypoalphalipoproteinemia, primary, 2 32766