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
early infantile epileptic encephalopathy caused by mutation in PLCB1 13389
early infantile epileptic encephalopathy caused by mutation in SCN2A 13388
developmental and epileptic encephalopathy, 11 13388
developmental and epileptic encephalopathy, 12 13389
developmental and epileptic encephalopathy, 7 13387
SCN2A early infantile epileptic encephalopathy 13388
PLCB1 early infantile epileptic encephalopathy 13389
hereditary sensory neuropathy type 1D 13381
Hirschsprung disease modifier 13383
hereditary sensory neuropathy type ID 13381
progressive demyelinating neuropathy with bilateral striatal necrosis 13382
Leopard syndrome type 3 13380
Hirschsprung disease, susceptibility to, 3 13383
Hirschsprung disease, susceptibility to, 4 13384
Hirschsprung disease, susceptibility to, type 3 13383