Mondo_2019_Kim Find_IDs Find_Terms Annotation
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created at 2021-12-20 07:01:32 UTC
updated at 2021-12-22 01:40:39 UTC
Mondo_2019_Kim from bioportal
113,078 entries
Label
Id
AR-CMT2B5 http://purl.obolibrary.org/obo/MONDO_0016454
autosomal recessive Charcot-Marie-Tooth disease type 2B5 http://purl.obolibrary.org/obo/MONDO_0016454
severe early-onset axonal neuropathy due to NEFL deficiency http://purl.obolibrary.org/obo/MONDO_0016454
severe early-onset axonal neuropathy due to light neurofilament subunit deficiency http://purl.obolibrary.org/obo/MONDO_0016454
SEOAN due to NEFL deficiency http://purl.obolibrary.org/obo/MONDO_0016454
Charcot-Marie-Tooth disease type 2B5 http://purl.obolibrary.org/obo/MONDO_0016454