PubDictionaries

MONDO_bioport_pref_name

183,974 entries

Label	Id

MYOPATHY, CONGENITAL, WITH TREMOR	32797
leber congenital amaurosis 19	32794
KCNJ5 long QT syndrome	13279
hyper-ige recurrent infection syndrome 4, autosomal recessive	32796
infarction of testis	3279
ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features	32798
long QT syndrome caused by mutation in KCNJ5	13279
long QT syndrome type 13	13279
neuropathy, hereditary motor and sensory, type VIc, with optic atrophy	32792
myopathy, congenital, with tremor	32797
long QT syndrome 13	13279
long QT syndrome 13; LQT13	http://purl.obolibrary.org/obo/MONDO_0013279
neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	32790