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
deafness, autosomal recessive 1b C567213
deafness, autosomal recessive 36, without vestibular involvement C567219
primary autosomal recessive, 5, with simplified gyral pattern microcephaly C567221
hypogammaglobulinemia, and reduced b cells immunodeficiency C567200
hereditary, 5 spherocytosis C567202
type 5 spherocytosis C567202
hereditary, 4 spherocytosis C567208
type 4 spherocytosis C567208
cantu craniofaciofrontodigital syndrome C567298
berardinelli-seip congenital, type 3 lipodystrophy C567282
congenital generalized, type 3 lipodystrophy C567282
usher syndrome, type IH C567227
pigmented hypomaturation type, 2 amelogenesis imperfecta C567279
type IH usher syndrome C567227
intermediate, with visceral involvement and rapid progression niemann-pick disease C567267