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
KCNQ2-related disorders 13387
KCNQ2-Related disorders http://purl.obolibrary.org/obo/MONDO_0013387
LEOPARD syndrome 3 13380
leopard syndrome 3 13380
LEOPARD syndrome 3; LPRD3 http://purl.obolibrary.org/obo/MONDO_0013380
bilateral striatal Degeneration and progressive polyneuropathy 13382
susceptibility to Hirschsprung disease 3 13383
susceptibility to Hirschsprung disease 4 13384
striatal Necrosis, bilateral, and progressive polyneuropathy 13382
Hirschsprung disease caused by mutation in EDN3 13384
Hirschsprung disease caused by mutation in GDNF 13383
Treacher-Collins syndrome caused by mutation in POLR1D 13385
autosomal recessive deafness 74 13386
GDNF Hirschsprung disease 13383
EDN3 Hirschsprung disease 13384