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
familial isolated dilated cardiomyopathy caused by mutation in RBM20 13168
hair defect-photosensitivity-intellectual disability syndrome 9316
PLD3 Alzheimer disease 14316
pancreatic lipomatosis duodenal stenosis 43166
astrocytoma of diencephalon 3169
chromosome 5p13 duplication syndrome 13169
short stature-deafness-neutrophil dysfunction-dysmorphism syndrome 17316
46,XX gonadal dysgenesis epibulbar dermoid C535316
panostotic fibrous dysplasia 43168
occult macular dystrophy 13316
limb-girdle muscular dystrophy type 2N 13162
limb-girdle muscular dystrophy type 2O 13161
congenital muscular dystrophy-POMT2 related 13160
congenital muscular dystrophy-dystroglycanopathy with intellectual disability type B2 13160
congenital muscular dystrophy-dystroglycanopathy with mental retardation type B2 13160