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
HSD3B7 congenital bile acid synthesis defect 11906
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
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
DNA repair disorder 21190
autosomal recessive axonal CMT4C2 11901
autosomal recessive axonal Charcot-Marie-Tooth disease with pyramidal features 11901
autosomal recessive axonal Charcot-Marie-Tooth neuropathy with pyramidal features 11901
Charcot-Marie-Tooth disease axonal type 2H 11901
Repairs, deficient DNA 21190