Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
A severe disease with onset in infancy primarily associated with brain dysfunction combined with muscle weakness. Symptoms include hypotonia, failure to thrive, delayed development of mental and motor skills, severely impaired speech development, seizures, movement abnormalities, microcephaly and cerebral atrophy. All individuals with the disease have lactic acidosis. Also associated with congenital heart defects or arrhythmias, vision problems, hearing loss, hepatopathy and immune deficiency. Caused by mutation in the FBXL4 gene responsible for producing a protein found within mitochondria. Inherited in an autosomal recessive pattern. |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Eclampsia with pre-existing hypertension in childbirth |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
3 |
Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated. |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
2 |
Eclampsia |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Eclampsia with postnatal complication |
Finding site |
False |
Brain structure |
Inferred relationship |
Some |
1 |
Eclampsia added to pre-existing hypertension |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
3 |
Eclampsia in pregnancy |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
2 |
Eclampsia in labour |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Familial febrile convulsions |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
2 |
Eclampsia in puerperium |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Eclampsia - delivered |
Finding site |
False |
Brain structure |
Inferred relationship |
Some |
1 |
Eclampsia - delivered with postnatal complication |
Finding site |
False |
Brain structure |
Inferred relationship |
Some |
1 |
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behaviors, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern. |
Finding site |
False |
Brain structure |
Inferred relationship |
Some |
4 |
Pitt-Hopkins syndrome |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970. |
Finding site |
False |
Brain structure |
Inferred relationship |
Some |
2 |
Benign infantile seizures associated with mild gastroenteritis is a rare infantile epilepsy syndrome characterized by benign afebrile seizures in previously healthy infants and children (age range 1 month to 6 years) with mild acute gastroenteritis without any central nervous system infection, severe dehydration, or electrolyte imbalances. In most cases the seizures are tonic-clonic with focal origin on EEG, occur between day 1 and 6 following onset of acute gastroenteritis, cease within 24 hours and do not persist after the illness. |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
2 |
Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly. |
Finding site |
False |
Brain structure |
Inferred relationship |
Some |
1 |
Arteriosclerotic dementia with delirium |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
3 |
Vascular dementia (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
3 |
Arteriosclerotic dementia with paranoia |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
3 |
Vascular dementia in remission |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
3 |
Arteriosclerotic dementia with depression |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
3 |
Uncomplicated arteriosclerotic dementia |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
3 |
Interstitial brachytherapy to brain using seed |
Procedure site - Indirect (attribute) |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Radiotherapy using temporary brain implant |
Procedure site - Indirect (attribute) |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Spastic paralysis due to intracranial birth injury |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Posttraumatic porencephalic cyst of brain |
Finding site |
False |
Brain structure |
Inferred relationship |
Some |
1 |
A rare neurologic disease characterized by neonatal hypotonia, global developmental delay, feeding difficulties, and often seizures or seizure-like episodes. Other frequently observed signs and symptoms include variable dysmorphic features, myopathic facies, respiratory problems, and visual abnormalities, such as strabismus or esotropia. Brain imaging may show delayed myelination and other white matter abnormalities. |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Acquired pseudoporencephaly (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
5q31.3 microdeletion syndrome (disorder) |
Finding site |
False |
Brain structure |
Inferred relationship |
Some |
2 |
Radionuclide imaging of brain using technetium (99m-Tc) pentetic acid |
Procedure site - Direct (attribute) |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Cerebellar stroke (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Phlebitis of superior sagittal sinus |
Finding site |
False |
Brain structure |
Inferred relationship |
Some |
2 |
Nontraumatic ruptured cerebral aneurysm |
Finding site |
False |
Brain structure |
Inferred relationship |
Some |
2 |
Occlusive stroke (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
2 |
Ruptured aneurysm of posterior inferior cerebellar artery |
Finding site |
False |
Brain structure |
Inferred relationship |
Some |
2 |
Phlebitis of inferior sagittal sinus (disorder) |
Finding site |
False |
Brain structure |
Inferred relationship |
Some |
2 |
Ruptured cerebral aneurysm (disorder) |
Finding site |
False |
Brain structure |
Inferred relationship |
Some |
2 |
Endophlebitis of intracranial venous sinus |
Finding site |
False |
Brain structure |
Inferred relationship |
Some |
3 |
Endophlebitis of lateral venous sinus |
Finding site |
False |
Brain structure |
Inferred relationship |
Some |
4 |
Neonatal stroke (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Cerebrovascular accident due to right carotid artery occlusion |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Embolism of torcular Herophili |
Finding site |
False |
Brain structure |
Inferred relationship |
Some |
2 |
Ischemic stroke without residual deficits (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Cerebrovascular accident due to occlusion of right pontine artery (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Occlusion of cerebral artery with stroke |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Ischaemic stroke without coma |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Stroke of uncertain pathology |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Anterior circulation stroke of uncertain pathology |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Cerebrovascular accident due to occlusion of left carotid artery (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Endophlebitis of cavernous venous sinus |
Finding site |
False |
Brain structure |
Inferred relationship |
Some |
3 |
Intracranial sinus thrombosis, embolism AND/OR inflammation |
Finding site |
False |
Brain structure |
Inferred relationship |
Some |
1 |
Posterior circulation stroke of uncertain pathology |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Cerebrovascular accident due to occlusion of right posterior cerebral artery by embolus |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Weber-Gubler syndrome |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Cerebrovascular accident due to occlusion of left posterior cerebral artery by embolus |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Nonparalytic stroke (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Juvenile myopathy, encephalopathy, lactic acidosis, stroke (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Embolism of superior sagittal sinus |
Finding site |
False |
Brain structure |
Inferred relationship |
Some |
2 |
Cerebral ischemic stroke due to small artery occlusion (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Extension of cerebrovascular accident |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Ischemic stroke (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Cerebral ischemic stroke due to intracranial large artery atherosclerosis (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Cerebrovascular accident due to occlusion of right cerebellar artery by embolus |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Cerebral ischemic stroke due to extracranial large artery atherosclerosis (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Cerebrovascular accident due to thrombus of basilar artery (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Cerebrovascular accident due to stenosis of right vertebral artery (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Cerebrovascular accident due to thrombus of right middle cerebral artery (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Rupture of syphilitic cerebral aneurysm |
Finding site |
False |
Brain structure |
Inferred relationship |
Some |
2 |
Stroke co-occurrent with migraine (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Left sided cerebral hemisphere cerebrovascular accident |
Finding site |
False |
Brain structure |
Inferred relationship |
Some |
1 |
Ruptured internal carotid-anterior communicating artery zone aneurysm |
Finding site |
False |
Brain structure |
Inferred relationship |
Some |
2 |
Right sided cerebral hemisphere cerebrovascular accident |
Finding site |
False |
Brain structure |
Inferred relationship |
Some |
1 |
Ruptured aneurysm of anterior cerebral artery |
Finding site |
False |
Brain structure |
Inferred relationship |
Some |
2 |
Cerebrovascular accident due to thrombus of right carotid artery (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Cerebrovascular accident due to occlusion of left cerebellar artery (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Ruptured aneurysm of middle cerebral artery |
Finding site |
False |
Brain structure |
Inferred relationship |
Some |
2 |
Superior cerebellar artery syndrome (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Endophlebitis of inferior sagittal sinus |
Finding site |
False |
Brain structure |
Inferred relationship |
Some |
2 |
Cerebrovascular accident due to occlusion of right middle cerebral artery (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Phlebitis of torcular Herophili |
Finding site |
False |
Brain structure |
Inferred relationship |
Some |
2 |
Ruptured aneurysm of anterior communicating artery |
Finding site |
False |
Brain structure |
Inferred relationship |
Some |
2 |
Cerebrovascular accident due to left carotid artery stenosis |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Perinatal arterial ischemic stroke of fetus and/or neonate |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Embolism of inferior sagittal sinus |
Finding site |
False |
Brain structure |
Inferred relationship |
Some |
2 |
Embolism of lateral venous sinus |
Finding site |
False |
Brain structure |
Inferred relationship |
Some |
3 |
Ruptured aneurysm of posterior communicating artery |
Finding site |
False |
Brain structure |
Inferred relationship |
Some |
2 |
Cerebrovascular accident during surgery (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Embolism of basilar sinus |
Finding site |
False |
Brain structure |
Inferred relationship |
Some |
3 |
Completed stroke |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Cerebrovascular accident due to occlusion of left middle cerebral artery by embolus (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Ruptured aneurysm of basilar artery |
Finding site |
False |
Brain structure |
Inferred relationship |
Some |
3 |
Phlebitis of lateral venous sinus |
Finding site |
False |
Brain structure |
Inferred relationship |
Some |
2 |
Phlebitis of intracranial venous sinus |
Finding site |
False |
Brain structure |
Inferred relationship |
Some |
2 |
Endophlebitis of basilar sinus |
Finding site |
False |
Brain structure |
Inferred relationship |
Some |
3 |
Ruptured internal carotid-posterior communicating artery zone aneurysm |
Finding site |
False |
Brain structure |
Inferred relationship |
Some |
2 |
Phlebitis of basilar sinus |
Finding site |
False |
Brain structure |
Inferred relationship |
Some |
3 |
Cerebrovascular accident due to stenosis of left vertebral artery (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Endophlebitis of torcular Herophili |
Finding site |
False |
Brain structure |
Inferred relationship |
Some |
3 |
Cerebrovascular accident due to occlusion of right cerebellar artery (disorder) |
Finding site |
True |
Brain structure |
Inferred relationship |
Some |
1 |
Ruptured aneurysm of right posterior communicating artery (disorder) |
Finding site |
False |
Brain structure |
Inferred relationship |
Some |
2 |