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
repair, deficient DNA 21190
deficiency of DNA repair 21190
disorder of DNA repair 21190
hypercholanemia, familial; FHCA http://purl.obolibrary.org/obo/MONDO_0011905
nephronophthisis 2; NPHP2 http://purl.obolibrary.org/obo/MONDO_0011190
deficient DNA Repairs 21190
Charcot Marie Tooth disease dominant intermediate 3 11909
Charcot Marie Tooth disease type 1F 11902
Charcot Marie Tooth disease type 2H 11901
Charcot Marie Tooth disease type 2J 11903
congenital bile acid synthesis defect 1 11906
congenital bile acid synthesis defect caused by mutation in HSD3B7 11906
congenital bile acid synthesis defect type 1 11906
congenital bile acid synthesis defect, type 1 11906
DNA repair disorder 21190