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
TREACHER COLLINS syndrome 2; TCS2 http://purl.obolibrary.org/obo/MONDO_0013385
Treacher Collins syndrome type 2 13385
BRAF Noonan syndrome with multiple lentigines 13380
reticuloendotheliosis familial with eosinophilia 11338
reticuloendotheliosis, familial, with eosinophilia 11338
Leopard syndrome type 3 13380
Hirschsprung disease type 3 13383
progressive polyneuropathy with bilateral striatal necrosis 13382
combined immunodeficiency with hypereosinophilia 11338
Noonan syndrome with multiple lentigines caused by mutation in BRAF 13380