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
HMSN 6C 32792
O'Donnell-Luria-Rodan syndrome 32793
Myogenic Tremor 32797
HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE 32796
COFFIN-SIRIS SYNDROME 10 32791
Coffin-Siris syndrome 10 32791
LEBER CONGENITAL AMAUROSIS 19 32794
Mental Retardation, Autosomal Dominant 59 32795
MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE) 32799
INTELLECTUAL DEVELOPMENTAL DISORDER 59 32795
hyper-ige recurrent infection syndrome 4, autosomal recessive 32796
ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES 32798
Charcot-Marie-Tooth Disease, Type 6C 32792
NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES 32790
MYOPATHY, CONGENITAL, WITH TREMOR 32797