MONDO_merge Find_IDs Find_Terms Annotation
manager
language -
license -
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
Apolipoprotein A-I Deficiency 32766
generalized epilepsy and paroxysmal dyskinesia 12276
Bernard - Soulier thrombopathy 9276
SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive 14276
DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM 32760
congenital anomalies OF kidney and urinary tract 2; CAKUT2 http://purl.obolibrary.org/obo/MONDO_0027676
BLEEDING DISORDER, PLATELET-TYPE, 22 32765
glycoprotein Ib, Platelet, deficiency of 9276
bleeding disorder, Platelet-type, 1 9276
DEAFNESS, AUTOSOMAL RECESSIVE 114 32761
DEAFNESS, AUTOSOMAL RECESSIVE 115 32762
Platelet glycoprotein Ib deficiency 9276
High Density Lipoprotein Deficiency 32766
epilepsy, childhood absence, susceptibility to, 6 12763.0
generalized epilepsy and paroxysmal dyskinesia; GEPD http://purl.obolibrary.org/obo/MONDO_0012276