{ "id": 7209, "label": "brain disorder", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0005560", "properties": { "xrefs": [ "DOID:936", "EFO:0005774", "ICD9:348.3", "ICD9:348.30", "ICD9:348.8", "ICD9:348.9", "MEDGEN:14214", "MESH:D001927", "NCIT:C96413", "SCTID:81308009", "UMLS:C0006111" ], "synonyms": [ "brain disease", "brain disease or disorder", "disease of brain", "disease or disorder of brain", "disorder of brain", "encephalopathy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A disease affecting the brain or part of the brain." }, "isLeaf": false, "isRoot": false, "child_count": 71, "parents": [ { "id": 4657, "label": "central nervous system disorder", "isLeaf": false, "isRoot": false, "parents": [ 6799 ], "type_id": 0, "properties": { "xrefs": [ "DOID:331", "EFO:0009386", "MEDGEN:892343", "MESH:D002493", "NCIT:C2934", "SCTID:23853001", "UMLS:C4021765" ], "synonyms": [ "CNS disorder", "central nervous disease", "central nervous system disease", "central nervous system disease or disorder", "central nervous system disorder", "disease of central nervous system", "disease of the central nervous system", "disease or disorder of central nervous system", "disorder of central nervous system" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A disease involving the central nervous system." }, "child_count": 19, "reference_id": "MONDO:0002602" } ], "children": [ { "id": 2738, "label": "leukoencephalopathy, megalencephalic", "isLeaf": false, "isRoot": false, "parents": [ 7209, 24270 ], "type_id": 0, "properties": { "xrefs": [ "OMIMPS:604004" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 6, "reference_id": "MONDO:0000137" }, { "id": 2753, "label": "encephalopathy, acute, infection-induced", "isLeaf": false, "isRoot": false, "parents": [ 7209, 20092, 20718, 24270 ], "type_id": 0, "properties": { "xrefs": [ "OMIMPS:610551" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 4, "reference_id": "MONDO:0000166" }, { "id": 2947, "label": "diabetic encephalopathy", "isLeaf": true, "isRoot": false, "parents": [ 7209 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050850", "MEDGEN:1806599", "UMLS:C1868773" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A brain disease that is characterized by functional impairment of cognition, cerebral signal conduction, neurotransmission and synaptic plasticity, and underlying structural pathology associated with diabetes." }, "child_count": 0, "reference_id": "MONDO:0000489" }, { "id": 3180, "label": "complex cortical dysplasia with other brain malformations", "isLeaf": false, "isRoot": false, "parents": [ 7209, 20383, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0090131", "OMIMPS:614039" ], "synonyms": [ "complex cortical dysplasia with other brain malformations", "cortical dysplasia, complex, with other brain malformations" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 36, "reference_id": "MONDO:0000904" }, { "id": 3395, "label": "hydrocephalus", "isLeaf": false, "isRoot": false, "parents": [ 7209 ], "type_id": 0, "properties": { "xrefs": [ "DOID:10908", "ICD10CM:G91", "ICD10WHO:G91", "MEDGEN:9335", "MESH:D006849", "NCIT:C3111", "SCTID:230745008", "UMLS:C0020255", "icd11.foundation:574533444" ], "synonyms": [ "hydrocephalus, X-linked", "hydrocephalus, nonsyndromic, autosomal recessive" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A disorder characterized by an abnormal increase of cerebrospinal fluid in the ventricles of the brain." }, "child_count": 7, "reference_id": "MONDO:0001150" }, { "id": 3524, "label": "brain compression", "isLeaf": true, "isRoot": false, "parents": [ 7209 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11457", "ICD10CM:G93.5", "ICD9:348.4", "MEDGEN:507585", "SCTID:46963008", "UMLS:C0009592" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0001291" }, { "id": 3894, "label": "cerebral sarcoidosis", "isLeaf": true, "isRoot": false, "parents": [ 7209, 23533 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13403", "GARD:0022991", "MEDGEN:140767", "NCIT:C35441", "SCTID:111936002", "UMLS:C0398676" ], "synonyms": [ "cerebral sarcoidosis", "sarcoidosis of telencephalon", "telencephalon sarcoidosis" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Sarcoidosis of the cerebrum." }, "child_count": 0, "reference_id": "MONDO:0001706" }, { "id": 3899, "label": "hepatic encephalopathy", "isLeaf": false, "isRoot": false, "parents": [ 7181, 7209 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13413", "GARD:0027587", "ICD9:572.2", "MEDGEN:5513", "MESH:D006501", "NCIT:C79596", "SCTID:13920009", "UMLS:C0019151", "icd11.foundation:1769383160" ], "synonyms": [ "portal-systemic encephalopathy", "Hepatoencephalopathy", "encephalopathy, hepatic" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Hepatic encephalopathy is a syndrome observed in some patients with cirrhosis. It is defined as a spectrum of neuropsychiatric abnormalities in patients with liver dysfunction, when other known brain disease has been excluded.Signs and symptomsmay be debilitating, and they can begin mildly and gradually, or occur suddenly and severely. They may includepersonality or moodchanges, intellectual impairment, abnormal movements,a depressed level of consciousness, and other symptoms.There are several theories regarding the exact cause, butdevelopment of the condition isprobablyat least partiallydue to the effect of substances that are toxic to nerve tissue (neurotoxic), which are typically present with liver damage and/or liver disease. Treatment depends upon the severity of mental status changes and upon the certainty of the diagnosis." }, "child_count": 2, "reference_id": "MONDO:0001711" }, { "id": 4014, "label": "visual pathway disorder", "isLeaf": false, "isRoot": false, "parents": [ 7209, 20325 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1393", "ICD10CM:H47.9", "MEDGEN:57831", "NCIT:C35342", "SCTID:54767005", "SCTID:95776004", "UMLS:C0155287" ], "synonyms": [ "disease of optic tract", "disease or disorder of optic tract", "disorder of optic tract", "optic tract disease", "optic tract disease or disorder", "visual pathway disorder", "optic tract disorder" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A disorder of the neural pathway from the optic nerve to the visual cortex." }, "child_count": 10, "reference_id": "MONDO:0001834" }, { "id": 4424, "label": "central nervous system origin vertigo", "isLeaf": true, "isRoot": false, "parents": [ 7209 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2479", "ICD9:386.2", "MEDGEN:56365", "SCTID:38403006", "UMLS:C0155503" ], "synonyms": [ "vertigo of central origin" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An illusion of movement, either of the external world revolving around the individual or of the individual revolving in space. Vertigo may be associated with disorders of the inner ear (ear, inner); vestibular nerve; brainstem; or cerebral cortex. Lesions in the temporal lobe and parietal lobe may be associated with focal seizures that may feature vertigo as an ictal manifestation. (From Adams et al., Principles of Neurology, 6th ed, pp300-1)" }, "child_count": 0, "reference_id": "MONDO:0002317" }, { "id": 4515, "label": "cerebellar disorder", "isLeaf": false, "isRoot": false, "parents": [ 7209 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2786", "MEDGEN:40186", "MESH:D002526", "SCTID:223176004", "UMLS:C0007760" ], "synonyms": [ "cerebellum disease", "cerebellum disease or disorder", "disease of cerebellum", "disease or disorder of cerebellum", "disorder of cerebellum" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, gait ataxia, and muscle hypotonia." }, "child_count": 5, "reference_id": "MONDO:0002427" }, { "id": 4696, "label": "cerebritis", "isLeaf": true, "isRoot": false, "parents": [ 6880, 7209 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3431", "MEDGEN:149273", "NCIT:C27199", "UMLS:C0742115" ], "synonyms": [ "cerebral hemisphere inflammation", "inflammation of cerebral hemisphere" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Inflammation of the cerebrum." }, "child_count": 0, "reference_id": "MONDO:0002645" }, { "id": 4764, "label": "olfactory nerve disorder", "isLeaf": false, "isRoot": false, "parents": [ 5469, 5512, 7209 ], "type_id": 0, "properties": { "xrefs": [ "DOID:367", "ICD9:352.0", "MEDGEN:155962", "MESH:D020431", "NCIT:C27210", "SCTID:68982002", "UMLS:C0751937" ], "synonyms": [ "disease of olfactory nerve", "disease or disorder of olfactory nerve", "disorder of 1st nerve", "disorder of olfactory [1st] nerve", "disorder of olfactory nerve", "disorder of the 1st nerve", "olfactory nerve disease", "olfactory nerve disease or disorder", "olfactory nerve disorder" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A disease involving the olfactory nerve." }, "child_count": 3, "reference_id": "MONDO:0002727" }, { "id": 5067, "label": "thalamic disorder", "isLeaf": false, "isRoot": false, "parents": [ 7209 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4662", "MEDGEN:52693", "MESH:D013786", "NCIT:C85186", "UMLS:C0039726" ], "synonyms": [ "disease of dorsal plus ventral thalamus", "disease or disorder of dorsal plus ventral thalamus", "disorder of dorsal plus ventral thalamus", "dorsal plus ventral thalamus disease", "dorsal plus ventral thalamus disease or disorder" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A disorder of the thalamus. Causes include brain neoplasms, cerebrovascular disorders, brain trauma, brain hypoxia, infections, and brain hemorrhage. Signs and symptoms include movement and sensory abnormalities, visual abnormalities, ataxia, and coma." }, "child_count": 3, "reference_id": "MONDO:0003081" }, { "id": 5314, "label": "pituitary gland disorder", "isLeaf": false, "isRoot": false, "parents": [ 6772, 6875, 7209 ], "type_id": 0, "properties": { "xrefs": [ "DOID:53", "EFO:0009607", "ICD9:253.1", "ICD9:253.8", "ICD9:253.9", "MEDGEN:45934", "MESH:D010900", "NCIT:C26854", "SCTID:399244003", "UMLS:C0032002" ], "synonyms": [ "disease of pituitary gland", "disease or disorder of pituitary gland", "disorder of pituitary gland", "pituitary gland disease", "pituitary gland disease or disorder", "pituitary gland disorder" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A disease involving the pituitary gland." }, "child_count": 27, "reference_id": "MONDO:0003381" }, { "id": 5468, "label": "disorder of optic chiasm", "isLeaf": true, "isRoot": false, "parents": [ 7209 ], "type_id": 0, "properties": { "xrefs": [ "DOID:5655", "ICD10CM:H47.4", "ICD9:377.5", "ICD9:377.63", "MEDGEN:509905", "SCTID:70476006", "UMLS:C0155307", "icd11.foundation:927459952" ], "synonyms": [ "chiasma syndrome", "chiasmal syndrome", "disease of optic chiasma", "disease or disorder of optic chiasma", "disorder of optic chiasm", "disorder of optic chiasma", "optic chiasma disease", "optic chiasma disease or disorder" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A disease that involves the optic chiasma." }, "child_count": 0, "reference_id": "MONDO:0003568" }, { "id": 5849, "label": "basal ganglia disorder", "isLeaf": false, "isRoot": false, "parents": [ 7209 ], "type_id": 0, "properties": { "xrefs": [ "CSP:2057-3403", "DOID:679", "EFO:0009533", "ICD9:333.0", "MEDGEN:1619147", "MESH:D001480", "SCTID:70835005", "UMLS:C4520981" ], "synonyms": [ "basal ganglia disease", "collection of basal ganglia disease", "collection of basal ganglia disease or disorder", "disease of basal ganglia", "disease of collection of basal ganglia", "disease or disorder of collection of basal ganglia", "disorder of collection of basal ganglia", "disorder of basal ganglia" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A disease involving the basal ganglia." }, "child_count": 4, "reference_id": "MONDO:0003996" }, { "id": 6761, "label": "epilepsy", "isLeaf": false, "isRoot": false, "parents": [ 7209 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1826", "EFO:0000474", "ICD10CM:G40", "ICD10WHO:G40", "ICD9:345", "ICD9:345.8", "ICD9:345.80", "ICD9:345.9", "ICD9:345.90", "ICD9:345.91", "MEDGEN:4506", "MESH:D004827", "NCIT:C3020", "SCTID:84757009", "UMLS:C0014544", "birnlex:12718" ], "synonyms": [ "epilepsy", "seizure disorder" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions." }, "child_count": 13, "reference_id": "MONDO:0005027" }, { "id": 6812, "label": "mental disorder", "isLeaf": false, "isRoot": false, "parents": [ 4172, 7209 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0000677", "ICD9:290-299", "ICD9:298.8", "ICD9:V11.9", "MEDGEN:14047", "SCTID:74732009", "UMLS:C0004936", "birnlex:12669" ], "synonyms": [ "disorder of mental process", "mental or behavioral disorder", "mental or behavioural disorder", "mental process disease" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A disease that has its basis in the disruption of mental process." }, "child_count": 28, "reference_id": "MONDO:0005084" }, { "id": 6963, "label": "central nervous system cyst", "isLeaf": false, "isRoot": false, "parents": [ 7209 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0003760", "HP:0030724", "MEDGEN:138106", "MESH:D020863", "NCIT:C4657", "SCTID:277333006", "UMLS:C0349606" ], "synonyms": [ "CNS cyst", "central nervous system cyst", "central nervous system cyst (disease)", "cyst of CNS", "cyst of Central nervous system", "cyst of the CNS", "cyst of the Central nervous system", "Rathke cleft cysts", "Rathke's cleft cysts", "Rathkes cleft cysts", "cleft cysts, Rathke's", "cyst, suprasellar", "cysts, Rathke cleft", "cysts, central nervous system", "cysts, suprasellar", "suprasellar cyst", "suprasellar cysts" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A congenital or acquired cyst that is present in the central nervous system." }, "child_count": 1, "reference_id": "MONDO:0005262" }, { "id": 6973, "label": "migraine disorder", "isLeaf": false, "isRoot": false, "parents": [ 7209, 17523, 23165 ], "type_id": 0, "properties": { "xrefs": [ "DOID:6364", "ICD10CM:G43", "ICD9:346", "ICD9:346.9", "MEDGEN:57451", "MESH:D008881", "NCIT:C89715", "UMLS:C0149931", "icd11.foundation:669367341" ], "synonyms": [ "migraine", "migraine headache" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A common, severe type of vascular headache often associated with increased sympathetic activity, resulting in nausea, vomiting, and light sensitivity." }, "child_count": 6, "reference_id": "MONDO:0005277" }, { "id": 6995, "label": "multiple sclerosis", "isLeaf": false, "isRoot": false, "parents": [ 2996, 7209, 8166, 20199 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2377", "ICD10CM:G35", "ICD10WHO:G35", "ICD9:340", "MEDGEN:10123", "MESH:D009103", "NANDO:1200023", "NANDO:2100250", "NANDO:2200904", "NCIT:C3243", "Orphanet:802", "SCTID:24700007", "UMLS:C0026769", "icd11.foundation:1298865187" ], "synonyms": [ "generalised multiple sclerosis", "generalized multiple sclerosis", "insular sclerosis" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A progressive autoimmune disorder affecting the central nervous system resulting in demyelination. Patients develop physical and cognitive impairments that correspond with the affected nerve fibers." }, "child_count": 16, "reference_id": "MONDO:0005301" }, { "id": 7097, "label": "prion disease", "isLeaf": false, "isRoot": false, "parents": [ 7209, 21534 ], "type_id": 0, "properties": { "xrefs": [ "DOID:649", "EFO:0004720", "GARD:0024183", "ICD9:046.19", "MEDGEN:56445", "MESH:D017096", "NANDO:1200186", "NCIT:C128346", "SCTID:230284004", "UMLS:C0162534" ], "synonyms": [ "spongiform encephalopathy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A transmissible disease that is caused by a protein that is able to induce abnormal folding of normal cellular proteins, leading to characteristic spongiform brain changes, which are associated with neuronal loss without an inflammatory response. Such disorders have typically long incubation periods, but are then generally rapidly progressive and are uniformly fatal." }, "child_count": 20, "reference_id": "MONDO:0005429" }, { "id": 7149, "label": "carbon monoxide-induced delayed encephalopathy", "isLeaf": true, "isRoot": false, "parents": [ 7181, 7209, 24962 ], "type_id": 0, "properties": { "synonyms": [ "delayed encephalopathy after acute carbon monoxide poisoning", "delayed encephalopathy in patients with acute carbon monoxide poisoning" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Anoxic encephalopathy resulting from acute CO intoxication, developing within 2-6 weeks of the poisoning event" }, "child_count": 0, "reference_id": "MONDO:0005493" }, { "id": 7264, "label": "cerebral malaria", "isLeaf": true, "isRoot": false, "parents": [ 6860, 7209, 21534 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14069", "EFO:0006857", "GARD:0024213", "ICD9:084.9", "MEDGEN:44258", "MESH:D016779", "NCIT:C128373", "SCTID:53622003", "UMLS:C0024534", "Wikipedia:Malaria" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A sequestration of Plasmodium falciparum in the brain, which can cause coma and/or seizures." }, "child_count": 0, "reference_id": "MONDO:0005625" }, { "id": 7277, "label": "akinetic mutism", "isLeaf": true, "isRoot": false, "parents": [ 7209 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4267", "EFO:0007138", "MEDGEN:7942", "MESH:D000405", "SCTID:53333005", "UMLS:C0001889", "icd11.foundation:1448580674" ], "synonyms": [ "Coma vigilans (finding)" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A syndrome characterized by a silent and inert state without voluntary motor activity despite preserved sensorimotor pathways and vigilance. Bilateral frontal lobe dysfunction involving the anterior cingulate gyrus and related brain injuries are associated with this condition. This may result in impaired abilities to communicate and initiate motor activities. (From Adams et al., Principles of Neurology, 6th ed, p348; Fortschr Neurol Psychiatr 1995 Feb;63(2):59-67)" }, "child_count": 0, "reference_id": "MONDO:0005640" }, { "id": 7317, "label": "bulbar polio", "isLeaf": true, "isRoot": false, "parents": [ 2855, 7209 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9786", "GARD:0024217", "ICD9:045.0", "MEDGEN:45982", "MESH:D011052", "UMLS:C0032372" ], "synonyms": [ "bulbar polio", "bulbar poliomyelitis", "medullary involvement poliomyelitis", "polio, bulbar", "poliomyelitis, medullary involvement" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A form of paralytic poliomyelitis affecting neurons of the medulla oblongata of the brain stem. Clinical features include impaired respiration, hypertension, alterations of vasomotor control, and dysphagia. Weakness and atrophy of the limbs and trunk due to spinal cord involvement is usually associated. (From Adams et al., Principles of Neurology, 6th ed, p765)" }, "child_count": 0, "reference_id": "MONDO:0005684" }, { "id": 7538, "label": "Reye syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7203, 7209 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14525", "EFO:0007467", "GARD:0007570", "ICD10CM:G93.7", "ICD9:331.81", "MEDGEN:19772", "MESH:D012202", "MedDRA:10039012", "NCIT:C34983", "Orphanet:3096", "SCTID:74351001", "UMLS:C0035400", "icd11.foundation:649014905" ], "synonyms": [ "Reye's syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An acute and potentially fatal metabolic disorder characterized by cerebral edema, fatty liver and hypoglycemia. It occurs primarily in children and has been associated with the use of aspirin for the treatment of viral infections. However, it can also occur in the absence of aspirin use." }, "child_count": 0, "reference_id": "MONDO:0005942" }, { "id": 8151, "label": "brain edema", "isLeaf": true, "isRoot": false, "parents": [ 7209 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4724", "EFO:1000845", "ICD9:348.5", "MEDGEN:2337", "MESH:D001929", "MedDRA:10006121", "SCTID:2032001", "UMLS:C0006114" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Increased intracellular or extracellular fluid in brain tissue. Cytotoxic brain edema (swelling due to increased intracellular fluid) is indicative of a disturbance in cell metabolism, and is commonly associated with hypoxic or ischemic injuries (see hypoxia, brain). An increase in extracellular fluid may be caused by increased brain capillary permeability (vasogenic edema), an osmotic gradient, local blockages in interstitial fluid pathways, or by obstruction of csf flow (e.g., obstructive hydrocephalus). (From Childs Nerv Syst 1992 Sep; 8(6):301-6)" }, "child_count": 0, "reference_id": "MONDO:0006684" }, { "id": 8198, "label": "encephalomalacia", "isLeaf": false, "isRoot": false, "parents": [ 7209 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2034", "EFO:1000915", "MEDGEN:4936", "MESH:D004678", "MedDRA:10051818", "NCIT:C98920", "SCTID:58762006", "UMLS:C0014068", "icd11.foundation:689481271" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Localized atrophy of the brain parenchyma due to aging, hemorrhage, infarct, or inflammation." }, "child_count": 1, "reference_id": "MONDO:0006741" }, { "id": 8258, "label": "intracranial hypertension", "isLeaf": false, "isRoot": false, "parents": [ 6776, 7209, 23165 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9428", "EFO:1000992", "MEDGEN:56241", "MESH:D019586", "MedDRA:10022764", "UMLS:C0151740" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A finding characterized by increased cerebrospinal fluid pressure within the skull." }, "child_count": 6, "reference_id": "MONDO:0006810" }, { "id": 8259, "label": "intracranial hypotension", "isLeaf": true, "isRoot": false, "parents": [ 7209 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4723", "EFO:1000993", "ICD10CM:G96.81", "ICD9:349.89", "MEDGEN:141851", "MESH:D019585", "MedDRA:10049977", "SCTID:433691000124104", "UMLS:C0524812", "icd11.foundation:363695674" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Reduction of cerebrospinal fluid pressure characterized clinically by headache which is maximal in an upright posture and occasionally by an abducens nerve palsy (see abducens nerve diseases), neck stiffness, hearing loss (see deafness); nausea; and other symptoms. This condition may be spontaneous or secondary to spinal puncture; neurosurgical procedures; dehydration; uremia; trauma (see also craniocerebral trauma); and other processes. Chronic hypotension may be associated with subdural hematomas (see hematoma, subdural) or hygromas. (From Semin Neurol 1996 Mar;16(1):5-10; Adams et al., Principles of Neurology, 6th ed, pp637-8)" }, "child_count": 0, "reference_id": "MONDO:0006811" }, { "id": 8441, "label": "Wernicke encephalopathy", "isLeaf": true, "isRoot": false, "parents": [ 7209, 20729 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2384", "ICD10CM:E51.2", "ICD9:265.1", "MEDGEN:53073", "MESH:D014899", "Orphanet:97354", "SCTID:21007002", "UMLS:C0043121", "icd11.foundation:1360335041" ], "synonyms": [ "Wernicke's encephalopathy", "dementia due to thiamine deficiency" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An acute neurological disorder characterized by the triad of ophthalmoplegia, ataxia, and disturbances of mental activity or consciousness. Eye movement abnormalities include nystagmus, external rectus palsies, and reduced conjugate gaze. thiamine deficiency and chronic alcoholism are associated conditions. Pathologic features include periventricular petechial hemorrhages and neuropil breakdown in the diencephalon and brainstem. Chronic thiamine deficiency may lead to korsakoff syndrome. (Adams et al., Principles of Neurology, 6th ed, pp1139-42; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp452-3)" }, "child_count": 0, "reference_id": "MONDO:0007020" }, { "id": 8920, "label": "encephalopathy, recurrent, of childhood", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7209, 23939, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003949", "MEDGEN:342069", "MESH:C536407", "OMIM:130950", "Orphanet:2672", "UMLS:C1851708" ], "synonyms": [ "encephalopathy recurrent of childhood", "encephalopathy, recurrent, of childhood", "Neuhauser Eichner Opitz syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0007539" }, { "id": 10079, "label": "XK aprosencephaly", "isLeaf": true, "isRoot": false, "parents": [ 7209 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000424", "MEDGEN:167087", "MESH:C536767", "OMIM:207770", "Orphanet:3469", "SCTID:277921008", "UMLS:C0795952", "icd11.foundation:1805259428" ], "synonyms": [ "Garcia-Lurie syndrome", "XK-aprosencephaly", "XK aprosencephaly syndrome", "XK-aprosencephaly syndrome", "Xk syndrome", "aprosencephaly syndrome", "aprosencephaly-atelencephaly syndrome", "atelencephaly" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "XK aprosencephaly is a very rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance." }, "child_count": 0, "reference_id": "MONDO:0008811" }, { "id": 10155, "label": "progressive bulbar palsy", "isLeaf": false, "isRoot": false, "parents": [ 4811, 7209, 7990, 10156 ], "type_id": 0, "properties": { "xrefs": [ "DOID:681", "EFO:0003783", "GARD:0010928", "ICD10CM:G12.22", "ICD9:335.22", "MEDGEN:18290", "MESH:D010244", "NCIT:C85026", "SCTID:54304004", "UMLS:C0030442", "icd11.foundation:1143049440" ], "synonyms": [ "Fazio-Londe disease", "bulbar palsy, progressive, of childhood", "progressive bulbar atrophy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Progressive bulbar palsy involves the brain stem. The brain stem is the part of the brain needed for swallowing, speaking, chewing, and other functions. Signs and symptoms of progressive bulbar palsy include difficulty swallowing, weak jaw and facial muscles, progressive loss of speech, and weakening of the tongue. Additional symptoms include less prominent weakness in the arms and legs, and outbursts of laughing or crying (called emotional lability). Progressive bulbar palsy is considered a variant form of amyotrophic lateral sclerosis (ALS). Many people with progressive bulbar palsy later develop ALS. While there is no cure for progressive bulbar palsy or for ALS, doctors can treat symptoms." }, "child_count": 4, "reference_id": "MONDO:0008890" }, { "id": 12183, "label": "cerebrovascular disorder", "isLeaf": false, "isRoot": false, "parents": [ 7209, 23165 ], "type_id": 0, "properties": { "xrefs": [ "DOID:6713", "EFO:0003763", "ICD10CM:I60-I69", "ICD9:430-438", "ICD9:434.91", "ICD9:437.8", "ICD9:437.9", "MEDGEN:858", "MESH:D002561", "NCIT:C2938", "SCTID:62914000", "UMLS:C0007820", "icd11.foundation:843843448" ], "synonyms": [ "cerebrovascular disease", "cerebrovascular disorder", "CVA", "CVA (cerebral vascular accident)", "cerebral infarction", "cerebrovascular accident", "stroke" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A disorder resulting from inadequate blood flow in the vessels that supply the brain. Representative examples include cerebrovascular ischemia, cerebral embolism, and cerebral infarction." }, "child_count": 48, "reference_id": "MONDO:0011057" }, { "id": 12708, "label": "glycine encephalopathy", "isLeaf": false, "isRoot": false, "parents": [ 6510, 7209, 19103, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9268", "GARD:0007219", "ICD9:270.7", "MEDGEN:155625", "NANDO:1200984", "NANDO:2200476", "NCIT:C84937", "NORD:1512", "OMIMPS:605899", "Orphanet:407", "SCTID:237939006", "UMLS:C0751748", "icd11.foundation:1491869639" ], "synonyms": [ "NKA", "Nonketotic Hyperglycinemia", "glycine encephalopathy", "non-ketotic hyperglycinemia", "nonketotic hyperglycinemia", "GCE", "GLYCINE encephalopathy", "Glycine synthase deficiency", "hyperglycinemia nonketotic", "hyperglycinemia, Nonketotic", "hyperglycinemia, transient neonatal" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity." }, "child_count": 20, "reference_id": "MONDO:0011612" }, { "id": 13511, "label": "autosomal recessive frontotemporal pachygyria", "isLeaf": true, "isRoot": false, "parents": [ 7209, 20383 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021489", "MEDGEN:343995", "MESH:C538092", "OMIM:610279", "Orphanet:329329", "UMLS:C1853215" ], "synonyms": [ "pachygyria, frontotemporal" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0012462" }, { "id": 14611, "label": "occipital pachygyria and polymicrogyria", "isLeaf": true, "isRoot": false, "parents": [ 7209, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017299", "MEDGEN:481505", "OMIM:614115", "Orphanet:280640", "UMLS:C3279875" ], "synonyms": [ "occipital MCD", "occipital malformations of cortical development", "OCCM", "cortical malformations, occipital" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0013583" }, { "id": 14626, "label": "insomnia", "isLeaf": false, "isRoot": false, "parents": [ 7209, 23833 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0004698", "HP:0100785", "ICD10CM:G47.0", "ICD10WHO:G47.0", "ICD9:780.52", "MEDGEN:214589", "MESH:D007319", "NCIT:C28286", "SCTID:193462001", "UMLS:C0917801" ], "synonyms": [ "insomnia", "insomnia (disease)", "DSPD", "DSPS", "delayed sleep phase disorder, susceptibility to", "delayed sleep phase syndrome, susceptibility to" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A sleep disorder characterized by difficulty in falling asleep and/or remaining asleep." }, "child_count": 2, "reference_id": "MONDO:0013600" }, { "id": 16757, "label": "narcolepsy-cataplexy syndrome", "isLeaf": false, "isRoot": false, "parents": [ 7209, 20346 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0007162", "ICD10CM:G47.4", "ICD10CM:G47.411", "ICD9:347.0", "MEDGEN:199638", "MedDRA:10028713", "Orphanet:2073", "UMLS:C0751362", "icd11.foundation:1851015159" ], "synonyms": [ "Gelineau disease", "Gelineau syndrome", "Gelineau's syndrome", "Gélineau disease", "narcolepsy type 1", "narcolepsy with cataplexy", "narcolepsy-cataplexy syndrome", "narcoleptic syndrome" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A type of narcolepsy characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions)." }, "child_count": 6, "reference_id": "MONDO:0016158" }, { "id": 17092, "label": "megalencephaly", "isLeaf": false, "isRoot": false, "parents": [ 7209, 20383 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016601", "HP:0001355", "ICD10CM:Q04.5", "ICD9:742.4", "MEDGEN:65141", "MESH:D058627", "MedDRA:10050183", "Orphanet:2477", "SCTID:9740002", "UMLS:C0221355", "icd11.foundation:368780653" ], "synonyms": [ "macroencephaly", "megalencephaly", "megalencephaly (disease)" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with hydrocephalus; subdural effusion; arachnoid cysts; or is part of a genetic condition (e.g., alexander disease; sotos syndrome)." }, "child_count": 8, "reference_id": "MONDO:0016608" }, { "id": 17459, "label": "meningoencephalocele", "isLeaf": true, "isRoot": false, "parents": [ 3392, 7209, 17458 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020968", "MEDGEN:82743", "NANDO:2200813", "NCIT:C124517", "Orphanet:268820", "SCTID:52330001", "UMLS:C0266456" ], "synonyms": [ "brain meninx cephalocele (disease)", "cephalocele (disease) of brain meninx", "meningoencephalocele", "cranial meningocele", "encephalomeningocele" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A congenital abnormality in which the meninges protrude through a defect in the cranium." }, "child_count": 0, "reference_id": "MONDO:0017079" }, { "id": 17471, "label": "cerebral cortical dysplasia", "isLeaf": false, "isRoot": false, "parents": [ 7209, 20383 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020982", "MEDGEN:98129", "MESH:D054220", "NCIT:C42088", "Orphanet:268950", "SCTID:253153000", "UMLS:C0431380", "icd11.foundation:1352548261" ], "synonyms": [ "brain cortical dysplasia", "cortical dysplasia" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "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." }, "child_count": 4, "reference_id": "MONDO:0017094" }, { "id": 17479, "label": "encephaloclastic disorder", "isLeaf": false, "isRoot": false, "parents": [ 7209 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020987", "MEDGEN:1843179", "Orphanet:269190", "UMLS:C5680772", "icd11.foundation:1436588898" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 3, "reference_id": "MONDO:0017103" }, { "id": 18517, "label": "bilirubin encephalopathy", "isLeaf": false, "isRoot": false, "parents": [ 7209, 17982, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2382", "GARD:0006830", "ICD10CM:P57", "MEDGEN:44018", "MESH:D007647", "MedDRA:10023376", "NCIT:C84799", "Orphanet:415286", "SCTID:50143004", "UMLS:C0022610" ], "synonyms": [ "bilirubin encephalopathy", "kernicterus", "hyperbilirubinemic encephalopathy", "kernicterus spectrum disorder" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 3, "reference_id": "MONDO:0018477" }, { "id": 18526, "label": "autoimmune encephalopathy with parasomnia and obstructive sleep apnea", "isLeaf": true, "isRoot": false, "parents": [ 2996, 5338, 7209 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021749", "MEDGEN:1644256", "Orphanet:420789", "SCTID:765751002", "UMLS:C4707562" ], "synonyms": [ "anti-IgLON5 disease", "anti-IgLON5 syndrome" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Autoimmune encephalopathy with parasomnia and obstructive sleep apnea is a rare neurologic disorder characterized by a unique non-REM and REM parasomnia with sleep breathing dysfunction, gait instability and repetitive episodes of respiratory insufficiency, as well as autoantibodies against IgLON5. Patients may present stridor, chorea, limb ataxia, abnormal ocular movements, and bulbar symptoms (i.e. dysphagia, dysarthria, episodic central hypoventilation) with normal brain MRI. Excessive day sleepiness and cognitive deterioration have also been reported." }, "child_count": 0, "reference_id": "MONDO:0018489" }, { "id": 19205, "label": "narcolepsy without cataplexy", "isLeaf": true, "isRoot": false, "parents": [ 7209, 20346 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0005855", "GARD:0019038", "ICD10CM:G47.419", "ICD9:347.00", "MEDGEN:781102", "Orphanet:83465", "SCTID:91521000119104", "UMLS:C1456240", "icd11.foundation:1494673323" ], "synonyms": [ "narcolepsy type 2" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A type of narcolepsy characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and sometimes paralysis at sleep, hypnagogic hallucinations and automatic behavior." }, "child_count": 0, "reference_id": "MONDO:0019371" }, { "id": 19306, "label": "hypothalamic hamartomas with gelastic seizures", "isLeaf": true, "isRoot": false, "parents": [ 7209 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019084", "MEDGEN:1642420", "Orphanet:86906", "UMLS:C4707883" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (i.e. ictal laughter) or dacrystic (i.e., ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty." }, "child_count": 0, "reference_id": "MONDO:0019484" }, { "id": 19673, "label": "encephalitis", "isLeaf": false, "isRoot": false, "parents": [ 6880, 7209, 20092 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9588", "ICD10CM:A85", "ICD9:323.0", "ICD9:323.8", "ICD9:323.9", "MEDGEN:4027", "MESH:D004660", "MedDRA:10014581", "NCIT:C26760", "Orphanet:97275", "SCTID:45170000", "UMLS:C0014038" ], "synonyms": [ "brain inflammation" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An acute inflammatory process affecting the brain parenchyma. Causes include viral infections and less frequently bacterial infections, toxins, and immune-mediated processes." }, "child_count": 21, "reference_id": "MONDO:0019956" }, { "id": 19753, "label": "cerebral lipidosis with dementia", "isLeaf": false, "isRoot": false, "parents": [ 7209, 19108, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:10742", "GARD:0019491", "ICD9:330.1", "MEDGEN:1825994", "Orphanet:98544", "SCTID:16517004", "UMLS:C5681730" ], "synonyms": [ "cerebral lipidosis" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 24, "reference_id": "MONDO:0020143" }, { "id": 20429, "label": "brain neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 7209, 7694 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0003833", "MEDGEN:14216", "NCIT:C2907", "UMLS:C0006118" ], "synonyms": [ "brain neoplasm (disease)", "brain neoplasms", "brain tumor", "brain tumour", "neoplasm of brain", "neoplasm of the brain", "tumor of brain", "tumor of the Brain", "tumour of brain", "tumour of the Brain" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neoplasm (disease) that involves the brain." }, "child_count": 34, "reference_id": "MONDO:0021211" }, { "id": 20833, "label": "colpocephaly", "isLeaf": true, "isRoot": false, "parents": [ 7209 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:98131", "MESH:C535973", "SCTID:253160006", "UMLS:C0431384", "icd11.foundation:845275248" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain - are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken." }, "child_count": 0, "reference_id": "MONDO:0022236" }, { "id": 21030, "label": "corpus callosum agenesis of blepharophimosis robin type", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7209 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0022871" }, { "id": 21031, "label": "corpus callosum dysgenesis X-linked recessive", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7209 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0022872" }, { "id": 21032, "label": "corpus callosum dysgenesis cleft spasm", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7209 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0022873" }, { "id": 21033, "label": "corpus callosum dysgenesis hypopituitarism", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7209 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0022874" }, { "id": 21293, "label": "cerebral degeneration", "isLeaf": false, "isRoot": false, "parents": [ 7208, 7209 ], "type_id": 0, "properties": { "xrefs": [ "ICD9:331.9", "MEDGEN:56343", "SCTID:418143002", "UMLS:C0154671" ], "synonyms": [ "cerebral degeneration", "neurodegenerative disease of telencephalon", "telencephalon neurodegenerative disease" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neurodegenerative disease that involves the telencephalon." }, "child_count": 4, "reference_id": "MONDO:0024238" }, { "id": 22824, "label": "acute bilirubin encephalopathy", "isLeaf": true, "isRoot": false, "parents": [ 7209, 20092 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022197", "MEDGEN:1808922", "Orphanet:529799", "UMLS:C5671282" ], "synonyms": [ "ABE", "Acute kernicterus" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "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. Especially respiratory failure or refractory seizures may lead to a fatal outcome." }, "child_count": 0, "reference_id": "MONDO:0035344" }, { "id": 22825, "label": "chronic bilirubin encephalopathy", "isLeaf": true, "isRoot": false, "parents": [ 7181, 7209 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022198", "MEDGEN:1806573", "Orphanet:529808", "UMLS:C5575229" ], "synonyms": [ "BIND", "Bilirubin-induced neurological dysfunction", "CBE", "KSD", "Kernicterus spectrum disorder" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "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." }, "child_count": 0, "reference_id": "MONDO:0035345" }, { "id": 22850, "label": "atelencephaly", "isLeaf": true, "isRoot": false, "parents": [ 7209, 20383 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022280", "MEDGEN:98461", "Orphanet:566852", "UMLS:C0431348" ], "synonyms": [ "atelencephalic microcephaly" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0035449" }, { "id": 22851, "label": "aprosencephaly", "isLeaf": true, "isRoot": false, "parents": [ 7209, 20383 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022281", "MEDGEN:140908", "NCIT:C98824", "Orphanet:566857", "UMLS:C0431349", "icd11.foundation:1740361952" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0035450" }, { "id": 23219, "label": "brain injury", "isLeaf": false, "isRoot": false, "parents": [ 7209, 23420 ], "type_id": 0, "properties": { "xrefs": [ "MESH:D001930" ], "synonyms": [ "brain injury", "injury of brain", "brain Traumas", "brain trauma" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Acute and chronic (see also brain INJURIES, CHRONIC) injuries to the brain, including the cerebral hemispheres, CEREBELLUM, and brain STEM. Clinical manifestations depend on the nature of injury. Diffuse trauma to the brain is frequently associated with DIFFUSE AXONAL INJURY or COMA, POST-TRAUMATIC. Localized injuries may be associated with NEUROBEHAVIORAL MANIFESTATIONS; HEMIPARESIS, or other focal neurologic deficits." }, "child_count": 4, "reference_id": "MONDO:0043510" }, { "id": 23220, "label": "traumatic encephalopathy", "isLeaf": true, "isRoot": false, "parents": [ 7209 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:536661", "NCIT:C35542", "SCTID:230282000", "UMLS:C0236959", "icd11.foundation:1673722101" ], "synonyms": [ "traumatic encephalopathy", "dementia due to head trauma", "post-traumatic brain syndrome", "post-traumatic dementia" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Encephalopathy resulting from trauma." }, "child_count": 0, "reference_id": "MONDO:0043512" }, { "id": 23224, "label": "cluster headache syndrome", "isLeaf": false, "isRoot": false, "parents": [ 7209, 16344 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:3503", "MESH:D003027", "NCIT:C117077", "Orphanet:1002", "SCTID:193031009", "UMLS:C0009088", "icd11.foundation:760621151" ], "synonyms": [ "Cephalgia, histamine", "Cephalgias, histamine", "Horton headache", "Horton syndrome", "Horton's headache", "Horton's neuralgia", "Horton's syndrome", "Hortons syndrome", "ciliary neuralgia", "ciliary neuralgias", "cluster headache", "cluster headache syndrome", "cluster migraine", "erythromelalgia of the head", "erythroprosopalgia of bing", "histamine cephalgia", "histamine cephalgias", "histamine headache", "migraine, neuralgic", "migraines, neuralgic", "migrainous neuralgia", "red migraine", "atypical cluster headache", "atypical cluster headaches", "beuralgias, ciliary", "chronic cluster headache", "chronic cluster headaches", "cluster headache syndromes", "cluster headache, atypical", "cluster headache, chronic", "cluster headache, episodic", "cluster headaches", "cluster headaches, atypical", "cluster headaches, chronic", "cluster headaches, episodic", "episodic cluster headache", "episodic cluster headaches", "headache syndrome, cluster", "headache syndromes, cluster", "headache, atypical cluster", "headache, chronic cluster", "headache, cluster", "headache, episodic cluster", "headaches, atypical cluster", "headaches, chronic cluster", "headaches, cluster", "headaches, episodic cluster", "neuralgia, ciliary", "neuralgic migraine", "neuralgic migraines", "syndrome, Horton", "syndrome, Horton's", "syndrome, cluster headache", "syndromes, cluster headache", "vasomotor headache" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A headache disorder that is characterized by periodic severe, unilateral orbital, supraorbital, and/or temporal pain, and is associated with ipsilateral cranial autonomic symptoms." }, "child_count": 2, "reference_id": "MONDO:0043537" }, { "id": 23499, "label": "cerebral cortex disorder", "isLeaf": false, "isRoot": false, "parents": [ 7209 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:688117", "SCTID:128128003", "UMLS:C1263847" ], "synonyms": [ "cerebral cortex disease", "cerebral cortex disease or disorder", "disease of cerebral cortex", "disease or disorder of cerebral cortex", "disorder of cerebral cortex" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A disease or disorder that involves the cerebral cortex." }, "child_count": 6, "reference_id": "MONDO:0044996" }, { "id": 23500, "label": "midbrain disorder", "isLeaf": true, "isRoot": false, "parents": [ 7209 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:636737", "SCTID:95641009", "UMLS:C0521655" ], "synonyms": [ "disease of midbrain", "disease or disorder of midbrain", "disorder of midbrain", "midbrain disease", "midbrain disease or disorder" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A disease or disorder that involves the midbrain." }, "child_count": 0, "reference_id": "MONDO:0044997" }, { "id": 23653, "label": "encephalopathy due to mitochondrial and peroxisomal fission defect", "isLeaf": false, "isRoot": false, "parents": [ 7209, 16918, 24014, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022192", "MEDGEN:1814479", "OMIMPS:614388", "Orphanet:527276", "UMLS:C5681458" ], "synonyms": [ "encephalopathy due to defective mitochondrial and peroxisomal fission", "encephalopathy due to mitochondrial and peroxisomal fission defect" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare mitochondrial disease characterized by a variable phenotype comprising delayed psychomotor development or neurodevelopmental regression, hypotonia, seizures, microcephaly, optic atrophy, pyramidal signs, and peripheral neuropathy, among others. Age of onset and disease severity are also variable with some cases taking a fatal course in early infancy. Serum lactate levels may be elevated. Reported brain imaging findings include abnormal signals in the basal ganglia, cerebral and/or cerebellar atrophy, and white matter abnormalities." }, "child_count": 8, "reference_id": "MONDO:0054865" }, { "id": 24204, "label": "brain malformations with or without urinary tract defects", "isLeaf": true, "isRoot": false, "parents": [ 7209, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027998", "MEDGEN:1392440", "OMIM:613735", "UMLS:C4478940" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A brain disorder caused by pathogenic variants in NFIA that is characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures." }, "child_count": 0, "reference_id": "MONDO:0100478" }, { "id": 26110, "label": "encephalopathy, acute transient", "isLeaf": true, "isRoot": false, "parents": [ 7209, 24270 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1874927", "OMIM:620950", "UMLS:C5975397" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0975801" } ], "roots": [ { "id": 4657, "label": "central nervous system disorder" } ] }