All terms in MONDO_RARE

Label Id Description
isolated focal cortical dysplasia type Ib MONDO_0017097
isolated focal cortical dysplasia type I MONDO_0017095
spondylometaphyseal dysplasia with corneal dystrophy MONDO_0030074
isolated focal cortical dysplasia type Ic MONDO_0017098
vertebral, cardiac, renal, and limb defects syndrome 3 MONDO_0030077
unilateral focal polymicrogyria MONDO_0017093 [Unilateral focal polymicrogyria (BFPP) is the mildest sub-type of polymicrogyria (PMG), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement.]
unilateral polymicrogyria MONDO_0017092 [Unilateral polymicrogyria is a cerebral cortical malformation characterized by unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria.]
cerebral cortical dysplasia MONDO_0017094 [Abnormalities in the development of the cerebral cortex. These include malformations arising from abnormal neuronal and glial cell proliferation or apoptosis (Group I); abnormal neuronal migration (Group ii); and abnormal establishment of cortical organization (Group iii). Many inborn metabolic brain disorders affecting cns formation are often associated with cortical malformations. They are common causes of epilepsy and developmental delay.]
isolated focal cortical dysplasia MONDO_0019009 [Isolated focal cortical dysplasia is a rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterized by variable-sized, focalized malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioral disturbances. Abnormal MRI findings (e.g. abnormal white and/or gray matter signal, blurred gray-white matter junction, localized volume loss, cortical thickening, abnormal gyral pattern, abnormal hippocampus) and variable histopathologic patterns are associated.]
isolated focal cortical dysplasia type Ia MONDO_0017096
neuronopathy, distal hereditary motor, autosomal dominant 10 MONDO_0859300
neuronopathy, distal hereditary motor, autosomal dominant MONDO_0015362 [Autosomal dominant form of distal hereditary motor neuropathy.]
bilateral polymicrogyria MONDO_0017091 [Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection.]
polymicrogyria MONDO_0000087 [A developmental brain abnormality characterized by an excessive amount of small convolutions on the surface of the brain and cognitive dysfunction.]
NDUFA10 7684
NDUFA1 7683
HNF4A 5024
NDUFA2 7685
arrhythmogenic right ventricular dysplasia, familial, 14 MONDO_0030062
familial isolated arrhythmogenic right ventricular dysplasia MONDO_0016342 [Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC, a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms.]