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
ASNSD 14258
Asns deficiency 14258
asparagine synthetase deficiency; ASNSD http://purl.obolibrary.org/obo/MONDO_0014258
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 14258
asparagine synthetase deficiency 14258