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All terms in MONDO

Label Id Description
Zaki syndrome MONDO_0859209
developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities MONDO_0859202
megacystis-microcolon-intestinal hypoperistalsis syndrome 3 MONDO_0030294
fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies MONDO_0859204
megacystis-microcolon-intestinal hypoperistalsis syndrome 4 MONDO_0030296
cerebellar ataxia, brain abnormalities, and cardiac conduction defects MONDO_0859200
neurodevelopmental disorder with impaired language and ataxia and with or without seizures MONDO_0859201
arthrogryposis multiplex congenita 6 MONDO_0030281
retinitis pigmentosa 89 MONDO_0030071
heterotaxy, visceral, 9, autosomal, with male infertility MONDO_0030070
Mitchell syndrome MONDO_0030073
developmental and epileptic encephalopathy, 88 MONDO_0030072
spastic paraplegia 88, autosomal dominant MONDO_0859309
neurodevelopmental disorder with eye movement abnormalities and ataxia MONDO_0859305
developmental delay with variable intellectual disability and dysmorphic facies MONDO_0859306
retinitis pigmentosa 95 MONDO_0859308
isolated focal cortical dysplasia type Ib MONDO_0017097
isolated focal cortical dysplasia type I MONDO_0017095
neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects MONDO_0859301
spondylometaphyseal dysplasia with corneal dystrophy MONDO_0030074