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
lymphedema, hereditary, 1B 12765
Platelet glycoprotein 1b, deficiency of 9276
orofacial cleft 2 11276
lymphatic malformation 2 12765
HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2 32766
hypoalphalipoproteinemia, primary, 2 32766
Developmental Delay, Epileptic Encephalopathy, Cerebral Atrophy, and Abnormal Myelination 32768
Bernard-Soulier syndrome; BSS http://purl.obolibrary.org/obo/MONDO_0009276
macrothrombocytopenia, familial Bernard-Soulier type 9276
Von Willebrand Factor receptor deficiency 9276
obsolete protein C deficiency 2767.0
childhood onset IBGC C536276
lymphedema, hereditary, IB; LMPH1B http://purl.obolibrary.org/obo/MONDO_0012765
immunodeficiency 17; IMD17 http://purl.obolibrary.org/obo/MONDO_0014276
chromosome 3q29 DUPLICATION syndrome 12761