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
AR-CMT2B5 16454
autosomal recessive Charcot-Marie-Tooth disease type 2B5 16454
severe early-onset axonal neuropathy due to NEFL deficiency 16454
severe early-onset axonal neuropathy due to light neurofilament subunit deficiency 16454
SEOAN due to NEFL deficiency 16454
Charcot-Marie-Tooth disease type 2B5 16454