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
DNA repair disorder 21190
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
Charcot-Marie-Tooth disease, axonal, type 2H 11901
HSD3B7 congenital bile acid synthesis defect 11906
Charcot-Marie-Tooth disease, axonal, type 2H; CMT2H http://purl.obolibrary.org/obo/MONDO_0011901
Charcot-Marie-Tooth disease, axonal, type 2J 11903
Charcot-Marie-Tooth disease, axonal, type 2J; CMT2J http://purl.obolibrary.org/obo/MONDO_0011903
Charcot-Marie-Tooth disease, axonal, with pyramidal features, autosomal recessive 11901
Charcot-Marie-Tooth neuropathy, axonal, with pyramidal features, autosomal recessive 11901
Charcot-Marie-Tooth disease, demyelinating, type 1F 11902
nephronophthisis (disease) caused by mutation in INVS 11190
Charcot-Marie-Tooth disease caused by mutation in MPZ 11909
Brucella suis caused disease or disorder 1190