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All terms in MONDO

Label Id Description
GLUT1 deficiency syndrome MONDO_0000188
glucose transport disorder MONDO_0019226
obsolete ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome MONDO_0000187
congenital myasthenic syndrome with tubular aggregates MONDO_0000182
microcephaly and chorioretinopathy MONDO_0000181
obsolete inflammatory skin and bowel disease, neonatal MONDO_0000180
obsolete spondyloepimetaphyseal dysplasia with joint laxity MONDO_0000186
obsolete polyposis syndrome, hereditary mixed MONDO_0000185
obsolete congenital vitamin K-dependent coagulation factors combined deficiency MONDO_0000184
obsolete hypertrophic osteoarthropathy, primary MONDO_0000183
narcolepsy 3 MONDO_0012179
posterior column ataxia-retinitis pigmentosa syndrome MONDO_0012177
intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature MONDO_0012178
marfanoid habitus with situs inversus MONDO_0012171
mitochondrial trifunctional protein deficiency MONDO_0012172
autosomal recessive nonsyndromic hearing loss 36 MONDO_0012170
cataract 28 MONDO_0012175
Emanuel syndrome MONDO_0012176
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency MONDO_0012173
peripheral cone dystrophy MONDO_0012174