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
Duchenne-like autosomal recessive muscular dystrophy type 2 11968
Duchenne-like autosomal recessive muscular dystrophy, type 2 11968
neuropathy, hereditary sensory and autonomic, type I, with cough and gastroesophageal reflux 11961
neuropathy, hereditary sensory, type 1B 11961
TMEM216 Joubert syndrome 11963
amyotrophic lateral sclerosis 5 11196
amyotrophic lateral sclerosis 5, juvenile 11196
amyotrophic lateral sclerosis 5, juvenile; ALS5 http://purl.obolibrary.org/obo/MONDO_0011196
amyotrophic lateral sclerosis caused by mutation in SPG11 11196
amyotrophic lateral sclerosis type 5 11196
Joubert syndrome type 2 11963
epilepsy, familial temporal lobe 11965
epilepsy, familial temporal lobe, 2 11965
epilepsy, familial temporal lobe, 2; ETL2 http://purl.obolibrary.org/obo/MONDO_0011965
CDG syndrome type Ih 11969