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
lymphatic malformation 3 13278
NOONAN SYNDROME 11 32786
Noonan syndrome 11 32786
AORTIC VALVE DISEASE 3 32783
lymphedema, hereditary, IC 13278
lymphedema, hereditary, IC; LMPH1C http://purl.obolibrary.org/obo/MONDO_0013278
CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES 32781
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71 32789
POLYDACTYLY, POSTAXIAL, TYPE A10 32785
HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES 32780
IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY 32782
HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS 32787
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS 32784
CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY 32788
hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities 32780