{ "id": 4657, "label": "central nervous system disorder", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0002602", "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." }, "isLeaf": false, "isRoot": false, "child_count": 19, "parents": [ { "id": 6799, "label": "nervous system disorder", "isLeaf": false, "isRoot": false, "parents": [ 29379 ], "type_id": 0, "properties": { "xrefs": [ "DOID:863", "EFO:0000618", "ICD10CM:G00-G99", "ICD9:349.89", "ICD9:349.9", "MEDGEN:14336", "MESH:D009422", "NCIT:C26835", "SCTID:118940003", "UMLS:C0027765", "Wikipedia:Nervous_system_disease" ], "synonyms": [ "disease of nervous system", "disease or disorder of nervous system", "disorder of nervous system", "nervous system disease", "nervous system disease or disorder", "nervous system disorder", "neurologic disease", "neurologic disorder", "neurological disease", "neurological disorder" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves." }, "child_count": 72, "reference_id": "MONDO:0005071" } ], "children": [ { "id": 2996, "label": "autoimmune disorder of central nervous system", "isLeaf": false, "isRoot": false, "parents": [ 4657, 4981 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060004", "EFO:0020092" ], "synonyms": [ "central nervous system autoimmune disease", "central nervous system hypersensitivity reaction type II disease" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A hypersensitivity reaction type II disease that involves the central nervous system." }, "child_count": 16, "reference_id": "MONDO:0000568" }, { "id": 3525, "label": "autonomic nervous system disorder", "isLeaf": false, "isRoot": false, "parents": [ 4657, 5512 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11465", "EFO:0009532", "ICD9:337.1", "ICD9:337.9", "MEDGEN:218837", "MESH:D001342", "SCTID:128123007", "SCTID:15241006", "UMLS:C1145628", "icd11.foundation:1397803237" ], "synonyms": [ "autonomic nervous disease", "autonomic nervous system disease", "autonomic nervous system disease or disorder", "disease of autonomic nervous system", "disease or disorder of autonomic nervous system", "disorder of autonomic nervous system", "disorder of peripheral autonomic nervous system", "disorder of the autonomic nervous system", "autonomic peripheral nervous system diseases", "dysautonomia", "peripheral autonomic nervous system diseases", "ANS (autonomic nervous system) diseases", "ANS disease", "ANS diseases", "autonomic central nervous system diseases", "autonomic disease", "autonomic diseases", "autonomic dysfunction, segmental", "autonomic dysfunctions, segmental", "autonomic nervous system disorders", "central autonomic nervous system diseases", "disorders of the autonomic nervous system", "nervous system diseases, autonomic", "nervous system diseases, sympathetic", "segmental autonomic dysfunction", "segmental autonomic dysfunctions" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A disease involving the autonomic nervous system." }, "child_count": 26, "reference_id": "MONDO:0001292" }, { "id": 4268, "label": "optic nerve disorder", "isLeaf": false, "isRoot": false, "parents": [ 4657, 5469, 21415 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1891", "ICD9:377.49", "ICD9:377.9", "MEDGEN:854546", "MESH:D009901", "NCIT:C79698", "SCTID:77157004", "UMLS:C3887709" ], "synonyms": [ "cranial nerve II disease", "cranial nerve II disease or disorder", "disease of cranial nerve II", "disease or disorder of cranial nerve II", "disorder of cranial nerve II", "optic nerve disorder", "second cranial nerve disorder" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A non-neoplastic or neoplastic disorder affecting the optic nerve (second cranial nerve)." }, "child_count": 24, "reference_id": "MONDO:0002135" }, { "id": 4611, "label": "spinal cord disorder", "isLeaf": false, "isRoot": false, "parents": [ 4657 ], "type_id": 0, "properties": { "xrefs": [ "DOID:319", "EFO:0009488", "ICD9:336.8", "ICD9:336.9", "MEDGEN:11550", "MESH:D013118", "NCIT:C97110", "SCTID:48522003", "UMLS:C0037928" ], "synonyms": [ "disease of spinal cord", "disease of the spinal cord", "disease or disorder of spinal cord", "disorder of spinal cord", "spinal cord disease", "spinal cord disease or disorder", "spinal cord disorder" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A disease involving the spinal cord." }, "child_count": 10, "reference_id": "MONDO:0002545" }, { "id": 4633, "label": "high pressure neurological syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4657 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3230", "MEDGEN:5553", "MESH:D006610", "UMLS:C0019537" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A syndrome related to increased atmospheric pressure and characterized by tremors, nausea, dizziness, decreased motor and mental performance, and seizures. This condition may occur in those who dive deeply (c. 1000 ft) usually while breathing a mixture of oxygen and helium. The condition is associated with a neuroexcitatory effect of helium." }, "child_count": 1, "reference_id": "MONDO:0002570" }, { "id": 5281, "label": "central nervous system vasculitis", "isLeaf": false, "isRoot": false, "parents": [ 4657, 18813, 23165 ], "type_id": 0, "properties": { "xrefs": [ "DOID:525", "GARD:0023462", "MEDGEN:148408", "MESH:D020293", "NCIT:C84622", "UMLS:C0751878" ], "synonyms": [ "central nervous system vasculitis", "vasculitis of central nervous system" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Vasculitis affecting the blood vessels of the brain and/or spinal cord." }, "child_count": 15, "reference_id": "MONDO:0003346" }, { "id": 6880, "label": "encephalomyelitis", "isLeaf": false, "isRoot": false, "parents": [ 4657, 20399 ], "type_id": 0, "properties": { "xrefs": [ "DOID:640", "EFO:0001423", "ICD9:323.9", "MEDGEN:8603", "MESH:D004679", "NCIT:C34580", "SCTID:62950007", "UMLS:C0014070" ], "synonyms": [ "central nervous system inflammation", "encephalitis and/or myelitis", "inflammation of central nervous system" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Inflammation of the brain and the spinal cord." }, "child_count": 14, "reference_id": "MONDO:0005156" }, { "id": 7208, "label": "neurodegenerative disease", "isLeaf": false, "isRoot": false, "parents": [ 4657 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1289", "EFO:0005772", "ICD9:349.89", "MEDGEN:17999", "MESH:D019636", "NCIT:C4802", "SCTID:80690008", "UMLS:C0027746" ], "synonyms": [ "degenerative disease", "brain degeneration", "central nervous system degenerative disorder", "central nervous system neurodegenerative disorder", "degenerative disorder of central nervous system", "cerebral degeneration disease" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." }, "child_count": 22, "reference_id": "MONDO:0005559" }, { "id": 7209, "label": "brain disorder", "isLeaf": false, "isRoot": false, "parents": [ 4657 ], "type_id": 0, "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." }, "child_count": 71, "reference_id": "MONDO:0005560" }, { "id": 7694, "label": "central nervous system neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 4657, 20456 ], "type_id": 0, "properties": { "xrefs": [ "EFO:1000158", "MEDGEN:88335", "NCIT:C9293", "UMLS:C0085136" ], "synonyms": [ "CNS neoplasm", "CNS tumor", "CNS tumour", "brain/spinal cord tumor", "brain/spinal cord tumour", "central nervous system neoplasm", "central nervous system neoplasm (disease)", "central nervous system tumor", "central nervous system tumour", "neoplasm of CNS", "neoplasm of central nervous system", "neoplasm of the central nervous system", "tumor of CNS", "tumor of central nervous system", "tumor of the CNS", "tumor of the central nervous system", "tumour of CNS", "tumour of central nervous system", "tumour of the CNS", "tumour of the central nervous system" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A benign or malignant, primary or metastatic neoplasm that affects the brain, meninges, or spinal cord. Representative examples of primary neoplasms include astrocytoma, oligodendroglioma, ependymoma, and meningioma. Representative examples of metastatic neoplasms include carcinoma and leukemia." }, "child_count": 20, "reference_id": "MONDO:0006130" }, { "id": 7990, "label": "palsy", "isLeaf": false, "isRoot": false, "parents": [ 4657 ], "type_id": 0, "properties": { "xrefs": [ "EFO:1000631", "ICD10CM:G80-G83", "MEDGEN:854494", "MESH:D010243", "UMLS:C3887651", "Wikipedia:Palsy" ], "synonyms": [ "Plegia", "Plegias" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45)" }, "child_count": 10, "reference_id": "MONDO:0006496" }, { "id": 9884, "label": "trigeminal neuralgia", "isLeaf": true, "isRoot": false, "parents": [ 4657, 5448, 16906 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12098", "EFO:1001219", "GARD:0007805", "ICD10CM:G50.0", "ICD9:350.1", "MEDGEN:21683", "MESH:D014277", "MedDRA:10044652", "NORD:1791", "OMIM:190400", "Orphanet:221091", "SCTID:31681005", "UMLS:C0040997", "icd11.foundation:1803581281" ], "synonyms": [ "neuralgia of trigeminal nerve", "trigeminal nerve neuralgia", "trigeminal neuralgia", "Tic douloureux" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Trigeminal neuralgia is a nerve disorder that causes a stabbing or electric-shock-like pain in parts of the face. The pain lasts a few seconds to a few minutes, and usually on only one side of the face. It can also cause muscle spasms in the face the same time as the pain. The pain may result from a blood vessel pressing against the trigeminal nerve (the nerve that carries pain, feeling, and other sensations from the brain to the skin of theface), as a complication of multiple sclerosis, or due to compression of the nerve by a tumor or cyst. In some cases, the cause is unknown. Treatment options include medicines, surgery, and complementary approaches." }, "child_count": 0, "reference_id": "MONDO:0008599" }, { "id": 14384, "label": "infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly", "isLeaf": true, "isRoot": false, "parents": [ 4657, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111262", "GARD:0010995", "MEDGEN:462271", "OMIM:613668", "Orphanet:402364", "UMLS:C3150921" ], "synonyms": [ "microcephaly, postnatal progressive, with seizures and brain atrophy", "postnatal progressive microcephaly, seizures, and brain atrophy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination." }, "child_count": 0, "reference_id": "MONDO:0013351" }, { "id": 16438, "label": "sporadic fetal brain disruption sequence", "isLeaf": false, "isRoot": false, "parents": [ 4657 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018734", "MEDGEN:1636968", "Orphanet:1665", "SCTID:763717004", "UMLS:C4706553" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Sporadic fetal brain disruption sequence is a rare, non-syndromic, central nervous system malformation disorder characterized by severe microcephaly (average occipitofrontal circumference -5.8 SD), overlapping sutures, keel-like occipital bone prominence, scalp rugae with normal hair pattern and signs of neurological impairment. Brain imaging may show ventriculomegaly, cortical tissue deficit, and hydranencephaly." }, "child_count": 1, "reference_id": "MONDO:0015660" }, { "id": 19193, "label": "congenital narrowing of cervical spinal canal", "isLeaf": true, "isRoot": false, "parents": [ 4657 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018706", "MEDGEN:1653635", "Orphanet:831", "UMLS:C4749275" ], "synonyms": [ "congenital stenosis of the cervical spine", "congenital cervical spinal stenosis" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Congenital cervical spinal stenosis is a rare neurological disease characterized by a congenital narrowing of the bony anatomy of the cervical spinal canal (sagittal diameter <14mm), predisposing the individual to symptomatic neural compression, such as cramps, paresthesias, pain, muscle hypertonia and weakness, myelopathy and sphincter disturbances." }, "child_count": 0, "reference_id": "MONDO:0019357" }, { "id": 21534, "label": "central nervous system infectious disorder", "isLeaf": false, "isRoot": false, "parents": [ 4657, 19708 ], "type_id": 0, "properties": { "xrefs": [ "EFO:1001456", "GARD:0025438", "ICD9:349.89", "MEDGEN:1684837", "MESH:D002494", "NCIT:C27582", "SCTID:128117002", "UMLS:C4759823" ], "synonyms": [ "central nervous system infectious disease", "central nervous system infectious disorder", "infectious disease of central nervous system", "central nervous system infection", "infections, central nervous system" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An infectious process that affects the brain and/or spinal cord. Representative examples include encephalitis, poliomyelitis, arachnoiditis, and meningitis." }, "child_count": 24, "reference_id": "MONDO:0024619" }, { "id": 23194, "label": "cerebrospinal fluid leak", "isLeaf": false, "isRoot": false, "parents": [ 4657 ], "type_id": 0, "properties": { "xrefs": [ "ICD10CM:G96.0", "MEDGEN:9695", "MESH:D065634", "SCTID:230744007", "UMLS:C0023182" ], "synonyms": [ "cerebrospinal fluid leak", "CSF leak", "CSF otorrhea", "CSF rhinorrhea", "Drainages, cerebrospinal fluid", "Leakages, cerebrospinal fluid", "Leaks, cerebrospinal fluid", "cerebrospinal fluid Drainages", "cerebrospinal fluid Leakages", "cerebrospinal fluid Leaks", "cerebrospinal fluid drainage", "cerebrospinal fluid drainage, post traumatic", "cerebrospinal fluid drainage, post-traumatic", "cerebrospinal fluid drainage, spontaneous", "cerebrospinal fluid drainage, traumatic", "cerebrospinal fluid leak, post traumatic", "cerebrospinal fluid leak, post-traumatic", "cerebrospinal fluid leak, spontaneous", "cerebrospinal fluid leak, traumatic", "cerebrospinal fluid leakage", "cerebrospinal fluid leakage, post traumatic", "cerebrospinal fluid leakage, post-traumatic", "cerebrospinal fluid leakage, spontaneous", "cerebrospinal fluid leakage, traumatic", "csf - cerebrospinal fluid leak", "drainage, cerebrospinal fluid", "fluid Drainages, cerebrospinal", "fluid Leakages, cerebrospinal", "fluid Leaks, cerebrospinal", "fluid drainage, cerebrospinal", "fluid leak, cerebrospinal", "fluid leakage, cerebrospinal", "leak, cerebrospinal fluid", "leakage, cerebrospinal fluid", "spinal CSF leak", "spinal cerebrospinal fluid leak", "spinal cerebrospinal fluid leak, post traumatic", "spinal cerebrospinal fluid leak, post-traumatic", "spinal cerebrospinal fluid leak, spontaneous", "spinal cerebrospinal fluid leak, traumatic" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Discharge of cerebrospinal fluid through a hole through the skull bone most commonly draining from the nose (CEREBROSPINAL FLUID RHINORRHEA) or the ear (CEREBROSPINAL FLUID OTORRHEA)." }, "child_count": 1, "reference_id": "MONDO:0043327" }, { "id": 24248, "label": "SPAST-related motor disorder", "isLeaf": false, "isRoot": false, "parents": [ 4657, 24270 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Heterozygous variants in SPAST have been reported in relation to pure spastic paraplegias (infantile, ascending), complicated or complex spastic paraplegia (with dementia, cerebellar ataxia, epilepsy, and/or peripheral neuropathy) and cerebral palsy. Age of symptom onset ranges from neonatal to advanced age with varying symptom severity," }, "child_count": 2, "reference_id": "MONDO:0100523" }, { "id": 24702, "label": "tinnitus", "isLeaf": true, "isRoot": false, "parents": [ 4657, 20788 ], "type_id": 0, "properties": { "xrefs": [ "ICD10CM:H93.1" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A central nervous system dysperception disorder characterized by the perception of a sound not justified by any internal or external vibration, lasting at least 5 minutes and occurring more than once a week, arising from maladaptive neuroplasticity secondary to an organic cochlear peripheral lesion, and classifiable as positive auditory hallucinosis in the absence of delusional attitudes or behaviors." }, "child_count": 0, "reference_id": "MONDO:0700322" } ], "roots": [ { "id": 6799, "label": "nervous system disorder" } ] }