Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Refractory migraine variants (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Drainage of abscess of brain tissue |
Procedure site - Indirect (attribute) |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Temporal slowing (finding) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
2 |
Degenerative brain disorder |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Open excisional biopsy of brain |
Procedure site - Direct (attribute) |
False |
Brain structure |
Inferred relationship |
Some |
1 |
Nightmares associated with chronic post-traumatic stress disorder (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
3 |
Senile brain amyloidosis |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Classical sporadic Creutzfeldt-Jakob disease |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Creutzfeldt-Jakob Disease caused by human growth hormone |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Creutzfeldt-Jakob Disease caused by human growth hormone |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
2 |
Encephalopathy due to COVID-19 |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Menstrual status migrainosus |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Chronic intractable migraine without aura (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
3 |
Migraine with persistent visual aura (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Classic medulloblastoma (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Subependymal nodular heterotopia (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
GRN-related frontotemporal dementia |
Finding site |
False |
Brain structure |
Inferred relationship |
Some |
1 |
PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated. |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Acquired prion disease (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
A rare neurologic disease characterized by a rapid onset of seizures, an altered state of consciousness, neurologic decline, and variable degrees of hepatic dysfunction following a respiratory or gastrointestinal infection (e.g. mycoplasma, influenza virus) in a previously healthy child. Brain MRI of patients reveals bilateral, multiple, symmetrical lesions predominantly observed in thalami and brainstem, but also in periventricular white matter and cerebellum in some cases. |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Hypotonia-speech impairment-severe cognitive delay syndrome is a rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip). |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Severe neonatal-onset encephalopathy with microcephaly is a rare monogenic disease with epilepsy characterized by neonatal-onset encephalopathy, microcephaly, severe developmental delay or absent development, breathing abnormalities (including central hypoventilation and/or respiratory insufficiency), intractable seizures, abnormal muscle tone and involuntary movements. Early death is usual. |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
2 |
Meningoencephalomyelitis |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
3 |
Kernicterus due to isoimmunization |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Ammonia encephalopathy |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
A rare non-syndromic cerebral malformation due to abnormal neuronal migration characterized by clusters of disorganized neurons in abnormal locations such as periventricular and subcortical. The extent of the lesions ranges from isolated single to bilateral confluent nodules. Pediatric patients typically show variable degrees of developmental delay, intellectual disability, and intractable epilepsy, and concomitant cerebral and/or systemic malformations are frequent. Milder forms may present with onset of seizures in adulthood. |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Fatal familial insomnia |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
A rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter. |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
2 |
Variably protease sensitive prionopathy (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Familial Alzheimer-like prion disease is an exceedingly rare form of prion disease characterized by the neuropathological features of Alzheimer disease including memory impairment and depression, related to abnormal prion protein (PrP) caused by a gene mutation in PRNP. Patients present with a prolonged, atypical course (absence of myoclonus or ataxia) unlike other forms of prion disease with severe neurofibrillary tangle pathology and high levels of cerebral amyloidosis. |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Disease with characteristics of delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase which is caused by homozygous or compound heterozygous mutation in the HIBCH gene on chromosome 2q32. |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
2 |
Multiple traumatic hemorrhages of brain tissue (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
2 |
Multiple traumatic hemorrhages of brain tissue (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
3 |
Glial tumor of brain |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Epilepsy co-occurrent and due to degenerative brain disorder (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
A rare neurologic disease characterized by spastic paraparesis presenting in late childhood and hearing loss. Additional features may include retinal anomalies, lenticular opacities, short stature, hypogonadism, sensory deficits, tremor, dysdiadochokinesia, elevated cerebrospinal fluid protein, and absent or prolonged somatosensory evoked potentials. Plasma and fibroblast levels of saturated very long-chain fatty acids are normal. There have been no further descriptions in the literature since 1986. |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia. |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Somnambulism co-occurrent with sleep terror disorder (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Amaurosis fugax of left eye (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
5 |
Amaurosis fugax of right eye (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
5 |
Primary ganglioneuroblastoma of brain (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
A rare, autosomal dominant neurological disorder due to truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid. Onset is usually in the fourth decade of life and reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections. |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
2 |
Hypoxic ischemic encephalopathy due to birth trauma (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
2 |
Status migrainosus co-occurrent and due to migraine without aura (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Severe hypoxic ischemic encephalopathy of newborn (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
3 |
Moderate hypoxic ischemic encephalopathy of newborn (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
3 |
Mild hypoxic ischemic encephalopathy of newborn (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
3 |
Cystic degeneration of brain (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Migraine variant with headache (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Medulloblastoma (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Sporadic Creutzfeldt-Jakob disease (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Degenerative brain disorder caused by alcohol (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
2 |
Low grade malignant glioma of brain (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Grade 4 malignant glioma of brain |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Low grade astrocytoma of brain (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Implantation of electroencephalographic receiver in brain |
Procedure site - Indirect (attribute) |
True |
Brain structure |
Inferred relationship |
Some |
1 |
encéphalopathie causée par radiolésion |
Finding site |
False |
Brain structure |
Inferred relationship |
Some |
1 |
Creutzfeldt Jakob disease following graft of dura (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Kernicterus of newborn |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Subependymoma of brain |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Iatrogenic Jakob-Creutzfeldt disease (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Primary anaplastic large cell medulloblastoma of brain (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
A rare neurologic disease characterized by lethargy, hypotonia, poor feeding, opisthotonus, and a typical high-pitched cry due to bilirubin accumulation in the globus pallidus, sub-thalamic nuclei, and other brain regions, resulting from severe neonatal unconjugated hyperbilirubinemia. Onset of symptoms is typically within the first three to five days of life. Additional features include fever, apnea, seizures, and coma. Respiratory failure or refractory seizures may lead to a fatal outcome. |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
A rare neurologic disease characterized by the chronic consequences of bilirubin toxicity in the globus pallidus, sub-thalamic nuclei, and other brain regions, after exposure to high levels of unconjugated bilirubin in the neonatal period. Symptoms begin after the acute phase of bilirubin encephalopathy in the first year of life, evolve slowly over several years, and include mild to severe extrapyramidal disturbances (especially dystonia and athetosis), auditory neuropathy spectrum disorder, and oculomotor and dental abnormalities. |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Injection of antineoplastic agent into neoplasm of brain tissue |
Procedure site - Indirect (attribute) |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Injection of drug or medicament into brain tissue (procedure) |
Procedure site - Indirect (attribute) |
True |
Brain structure |
Inferred relationship |
Some |
1 |
A rare genetic neurological disorder characterized by severe pseudo-TORCH syndrome with signs of brain damage and occasionally systemic manifestations resembling the sequelae of congenital infection, but in the absence of an infectious agent. Characteristic features include microcephaly, white matter disease, cerebral atrophy, cerebral hemorrhage, and calcifications, among others. Affected individuals typically have seizures and respiratory insufficiency and die in infancy. |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Chronic cluster headache |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Transcranial magnetic stimulation |
Procedure site - Direct (attribute) |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Central transtentorial herniation (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Primary neuroblastoma of brain |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Primary gliosarcoma of brain |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Primary malignant glioma of brain (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Primary anaplastic astrocytoma of brain (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Primary classic medulloblastoma (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Primary anaplastic glioma of brain (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Primary gemistocytic astrocytoma of brain |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Primary giant cell glioblastoma of brain |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Primary fibrillary astrocytoma of brain (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Primary pleomorphic xanthoastrocytoma of brain |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Primary pilomyxoid astrocytoma of brain (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Metastatic neuroblastoma to brain |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Injury of brain due to early brain irradiation |
Finding site |
False |
Brain structure |
Inferred relationship |
Some |
1 |
Aspiration of cystic tumour of brain tissue |
Procedure site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Infarction of brain due to migraine (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Aspiration of subcutaneous reservoir connecting to brain lesion |
Procedure site - Indirect (attribute) |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Encephalopathy caused by heavy metal |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
High grade astrocytoma of brain |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
High grade astrocytoma of brain |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
2 |
Diffuse astrocytoma of brain |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Fibrillary astrocytoma of brain |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Pleomorphic xanthoastrocytoma of brain (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Desmoplastic nodular medulloblastoma of brain |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Pilomyxoid astrocytoma of brain (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
A rare mixed neuronal-glial tumor characterized by a supratentorial space-occupying lesion in periventricular location, often with prominent cystic change. The histological hallmark of this low-grade neoplasm is its pseudopapillary appearance with a single layer of cuboidal cells around hyalinized blood vessels, associated with sheets or focal collections of neuronal cells. Clinical presentation is variable and non-specific, most frequently with headache and seizures. Prognosis is favorable after complete resection. |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Giant cell glioblastoma of brain (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Gliomatosis cerebri (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Protoplasmic astrocytoma of brain |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Gemistocytic astrocytoma of brain (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Gliosarcoma of brain |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Large cell medulloblastoma of brain (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |