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
Leopard syndrome type 3 13380
Hirschsprung disease type 3 13383
progressive polyneuropathy with bilateral striatal necrosis 13382
reticuloendotheliosis familial with eosinophilia 11338
reticuloendotheliosis, familial, with eosinophilia 11338
combined immunodeficiency with hypereosinophilia 11338
Noonan syndrome with multiple lentigines caused by mutation in BRAF 13380