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
multiple synostoses syndrome caused by mutation in GDF5 12394
multiple synostoses syndrome type 2 12394
tumor of the urethra 21239
neoplasm of urethra 21239
tumor of urethra 21239
arthrogryposis multiplex with deafness, inguinal hernias, and early death 12390
hyperinsulinism due to SLC16A1 deficiency 12396
polymicrogyria due to TUBB2B mutation 12399
hyperinsulinism due to monocarboxylate transporter 1 deficiency 12396
northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant 12391
epilepsy, progressive, with intellectual disability 12391
progressive epilepsy with intellectual disability, northern epilepsy 12391
epilepsy, progressive, with mental retardation 12391
progressive epilepsy with mental retardation, northern epilepsy 12391
macrophthalmia, colobomatous, with microcornea 11239