All terms in MONDO_RARE

Label Id Description
leukodystrophy, hypomyelinating, 21 MONDO_0030263
chromosome 16q12 duplication syndrome MONDO_0859210
chromosomal disorder MONDO_0019040 [Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)]
pontocerebellar hypoplasia, type 15 MONDO_0030259
pontocerebellar hypoplasia, type 14 MONDO_0030258
angioedema, hereditary, 5 MONDO_0030293
hereditary angioedema MONDO_0019623 [Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain.]
angioedema, hereditary, 8 MONDO_0030298
rhizomelic dysplasia, Ain-Naz type MONDO_0859203
cerebellar ataxia, brain abnormalities, and cardiac conduction defects MONDO_0859200
endarteritis MONDO_0043576 [Inflammation of the arterial intima.]
arthrogryposis multiplex congenita 6 MONDO_0030281
arthrogryposis multiplex congenita MONDO_0015168 [Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by congenital limb contractures. It manifests as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. AMC is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures.]
heterotaxy, visceral, 9, autosomal, with male infertility MONDO_0030070
Mitchell syndrome MONDO_0030073
disorder of defective peroxisome oxidative status MONDO_0100306 [Any peroxisomal single enzyme/protein defect that has its basis in the disruption of peroxisome oxidation.]
developmental and epileptic encephalopathy, 88 MONDO_0030072
spastic paraplegia 88, autosomal dominant MONDO_0859309
hereditary spastic paraplegia MONDO_0019064 [Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs.]
retinitis pigmentosa 95 MONDO_0859308