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All terms in MONDO

Label Id Description
non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy MONDO_0018576
genetic peripheral neuropathy MONDO_0020127
mitochondrial oxidative phosphorylation disorder MONDO_0016387
microcephalic primordial dwarfism-insulin resistance syndrome MONDO_0018575
inherited primary ovarian failure MONDO_0019852
obsolete hypophosphatemic rickets MONDO_0018578
pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa MONDO_0018577
dermis elastic tissue disorder MONDO_0019292
genetic skin disorder MONDO_0100118
syndromic retinitis pigmentosa MONDO_0020240
pseudoxanthoma elasticum (inherited or acquired) MONDO_0024308
severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome MONDO_0018572
neuro-ophthalmological disease MONDO_0015368
multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO_0015159
contractures-developmental delay-Pierre Robin syndrome MONDO_0018571
multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome MONDO_0015160
partial deletion of the long arm of chromosome 5 MONDO_0016904
genetic syndromic Pierre Robin syndrome MONDO_0018187
intellectual disability-expressive aphasia-facial dysmorphism syndrome MONDO_0018574
intrauterine growth restriction-short stature-early adult-onset diabetes syndrome MONDO_0018573