Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Fahr's syndrome |
Is a |
False |
Cerebral calcification |
Inferred relationship |
Some |
|
Cerebroretinal microangiopathy with calcifications and cysts |
Is a |
True |
Cerebral calcification |
Inferred relationship |
Some |
|
Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications. |
Is a |
True |
Cerebral calcification |
Inferred relationship |
Some |
|
A rare systemic disease characterized by progressive hyalinosis involving capillaries, arterioles and small veins of the digestive tract, kidneys, and retina, associated with idiopathic cerebral calcifications, manifesting with severe diarrhea (with rectal bleeding and malabsorption), nephropathy (with renal failure and systemic hypertension), chorioretinal scarring, and subarachnoid hemorrhage. Poikiloderma and premature graying of the hair may be additionally observed. |
Is a |
True |
Cerebral calcification |
Inferred relationship |
Some |
|
Symmetrical thalamic calcifications are clinically distinguished by a low Apgar score, spasticity or marked hypotonia, weak or absent cry, poor feeding, and facial diplegia or weakness. |
Is a |
True |
Cerebral calcification |
Inferred relationship |
Some |
|
A rare, inherited disorder characterized by widespread calcifications of basal ganglia and cortex, developmental delay, small stature, retinopathy and microcephaly. The absence of progressive deterioration of the neurological functions is characteristic of the disease. |
Is a |
False |
Cerebral calcification |
Inferred relationship |
Some |
|
Craniosynostosis-intracranial calcifications syndrome is a form of syndromic craniosynostosis characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner. |
Is a |
False |
Cerebral calcification |
Inferred relationship |
Some |
|
Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991. |
Is a |
True |
Cerebral calcification |
Inferred relationship |
Some |
|
Calcification of basal ganglia (disorder) |
Is a |
True |
Cerebral calcification |
Inferred relationship |
Some |
|
A rare genetic cerebral small vessel disease characterized by leukoencephalopathy and cerebral calcification and cysts due to diffuse cerebral microangiopathy resulting in microcystic and macrocystic parenchymal degeneration. The condition can present at any age from early childhood to late adulthood and manifests as a progressive cerebral degeneration. Symptoms are variable, but restricted to the central nervous systems, and include, among others, slowing of cognitive performance, seizures, and movement disorder with a combination of pyramidal, extrapyramidal, and cerebellar features. |
Is a |
True |
Cerebral calcification |
Inferred relationship |
Some |
|
Calcification of pineal gland (disorder) |
Is a |
True |
Cerebral calcification |
Inferred relationship |
Some |
|
A rare genetic neurological disorder characterized by pediatric onset of calcifying leukoencephalopathy and skeletal dysplasia. Reported structural brain abnormalities include agenesis of corpus callosum, ventriculomegaly, congenital hydrocephalus, pontocerebellar hypoplasia, periventricular calcifications, Dandy-Walker malformation and absence of microglia. Characteristic skeletal features include increased bone mineral density (reported in skull, pelvic bone and vertebrae), platyspondyly, and under-modeling of tubular bones with widened/radiolucent metaphysis and constricted/sclerotic diaphysis. |
Is a |
True |
Cerebral calcification |
Inferred relationship |
Some |
|