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
acute cerebral gaucher disease C531689
HSMN - hereditary sensory and motor neuropathy http://purl.obolibrary.org/obo/MONDO_0002316
double inguinal hernia C563164
hearing loss, high frequency D006316
hearing loss, high-frequency D006316
cauda equina intradural extramedullary astrocytoma 3163
AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22) 20316
caroli disease isolated C531647
caroli disease, isolated C531647
RBM20 familial isolated dilated cardiomyopathy 13168
maculopapular cutaneous mastocytosis 19316
acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 20316
muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related 13161
muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related 13162
autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMGNT1 13161