{ "id": 6799, "label": "nervous system disorder", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0005071", "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." }, "isLeaf": false, "isRoot": false, "child_count": 72, "parents": [ { "id": 29379, "label": "disease by body system or component", "isLeaf": false, "isRoot": false, "parents": [ 24492 ], "type_id": 0, "properties": { "definition": "A grouping class for human diseases classified by the body system or anatomical component primarily affected." }, "child_count": 19, "reference_id": "MONDO:7770006" } ], "children": [ { "id": 4427, "label": "congenital nervous system disorder", "isLeaf": false, "isRoot": false, "parents": [ 6799 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2490", "ICD9:742", "MEDGEN:105425", "NCIT:C97172", "UMLS:C0497552" ], "synonyms": [ "congenital abnormality of the nervous system", "congenital nervous system disorder" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period." }, "child_count": 217, "reference_id": "MONDO:0002320" }, { "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" }, { "id": 4981, "label": "autoimmune disorder of the nervous system", "isLeaf": false, "isRoot": false, "parents": [ 6799, 8586 ], "type_id": 0, "properties": { "xrefs": [ "DOID:438", "MEDGEN:155946", "MESH:D020274", "NCIT:C99383", "UMLS:C0751871" ], "synonyms": [ "autoimmune disease of nervous system", "autoimmune disease, neurologic", "autoimmune diseases, nervous system", "autoimmune diseases, neurologic", "autoimmune disorders of the nervous system", "autoimmune disorders, nervous system", "autoimmune nervous system diseases", "autoimmune nervous system disorder", "disease, neurologic autoimmune", "diseases, neurologic autoimmune", "immune diseases, nervous system", "immune disorders, nervous system", "nervous system autoimmune disease", "nervous system autoimmune diseases", "nervous system hypersensitivity reaction type II disease", "nervous system immune diseases", "nervous system immune disorders", "neurologic autoimmune disease", "neurologic autoimmune diseases" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A disorder characterized by the degeneration of the nervous system due to autoimmunity. Representative examples include multiple sclerosis, Guillain-Barre syndrome, and myasthenia gravis." }, "child_count": 8, "reference_id": "MONDO:0002977" }, { "id": 5469, "label": "cranial nerve neuropathy", "isLeaf": false, "isRoot": false, "parents": [ 6799 ], "type_id": 0, "properties": { "xrefs": [ "DOID:5656", "ICD9:352.9", "MEDGEN:1160", "MESH:D003389", "NCIT:C26733", "SCTID:73013002", "UMLS:C0010266" ], "synonyms": [ "cranial nerve disease", "cranial nerve disorder", "cranial neuron projection bundle disease", "cranial neuron projection bundle disease or disorder", "cranial neuropathy", "disease of cranial neuron projection bundle", "disease or disorder of cranial neuron projection bundle", "disorder of cranial nerve", "disorder of cranial neuron projection bundle" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neoplastic or non-neoplastic disorder that affects one of the cranial nerves." }, "child_count": 17, "reference_id": "MONDO:0003569" }, { "id": 5512, "label": "peripheral nervous system disorder", "isLeaf": false, "isRoot": false, "parents": [ 6799 ], "type_id": 0, "properties": { "xrefs": [ "DOID:574", "EFO:0009387", "ICD9:350-359", "ICD9:356.9", "MEDGEN:892389", "MESH:D010523", "NCIT:C27580", "SCTID:42658009", "UMLS:C4025831" ], "synonyms": [ "PNS (peripheral nervous system) diseases", "PNS disease", "PNS diseases", "disease of peripheral nervous system", "disease or disorder of peripheral nervous system", "disorder of peripheral nervous system", "disorder of the peripheral nervous system", "peripheral nervous system disease", "peripheral nervous system disease or disorder", "peripheral nervous system disorder", "peripheral nervous system disorders", "nerve disease, peripheral", "nerve diseases, peripheral", "neuropathy, peripheral", "peripheral Neuropathies", "peripheral nerve disease", "peripheral nerve diseases", "peripheral neuropathy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A disease involving the peripheral nervous system." }, "child_count": 18, "reference_id": "MONDO:0003620" }, { "id": 6272, "label": "neuronitis", "isLeaf": true, "isRoot": false, "parents": [ 6799, 20399 ], "type_id": 0, "properties": { "xrefs": [ "DOID:8117", "MEDGEN:45064", "NCIT:C34847", "UMLS:C0027881" ], "synonyms": [ "neuroinflammation" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0004466" }, { "id": 6407, "label": "diplegia of upper limb", "isLeaf": true, "isRoot": false, "parents": [ 6799 ], "type_id": 0, "properties": { "xrefs": [ "DOID:862", "ICD10CM:G83.0", "ICD9:344.2", "MEDGEN:509631", "SCTID:54099005", "UMLS:C0154701" ], "synonyms": [ "diplegia of upper limbs" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0004618" }, { "id": 6979, "label": "retinal disorder", "isLeaf": false, "isRoot": false, "parents": [ 6799, 7019 ], "type_id": 0, "properties": { "xrefs": [ "DOID:5679", "EFO:0003839", "HGNC:8002", "ICD9:362.89", "ICD9:362.9", "MEDGEN:11209", "MESH:D012164", "NCIT:C26875", "NCIT:C62601", "SCTID:29555009", "UMLS:C0035309" ], "synonyms": [ "eye disease of retina", "retina eye disease", "retinopathy" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any disease or disorder of the retina." }, "child_count": 64, "reference_id": "MONDO:0005283" }, { "id": 6982, "label": "developmental disability", "isLeaf": false, "isRoot": false, "parents": [ 6799 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0003852", "MESH:D002658" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)" }, "child_count": 5, "reference_id": "MONDO:0005287" }, { "id": 7069, "label": "restless legs syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6799 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050425", "EFO:0004270", "ICD10CM:G25.81", "ICD9:333.94", "ICD9:333.99", "MEDGEN:48427", "MESH:D012148", "NCIT:C84501", "SCTID:32914008", "UMLS:C0035258", "icd11.foundation:1254916765" ], "synonyms": [ "RLS", "WED", "restless leg syndrome" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A condition that occurs while resting or lying in bed; it is characterized by an irresistible urgency to move the legs to obtain relief from a strange and uncomfortable sensation in the legs." }, "child_count": 0, "reference_id": "MONDO:0005391" }, { "id": 7073, "label": "movement disorder", "isLeaf": false, "isRoot": false, "parents": [ 6799 ], "type_id": 0, "properties": { "xrefs": [ "DOID:480", "EFO:0004280", "ICD9:333.90", "ICD9:333.99", "MEDGEN:10113", "MESH:D009069", "NCIT:C116757", "SCTID:60342002", "UMLS:C0026650" ], "synonyms": [ "movement disease", "movement disorder", "movement disorders" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement." }, "child_count": 54, "reference_id": "MONDO:0005395" }, { "id": 7181, "label": "toxic encephalopathy", "isLeaf": false, "isRoot": false, "parents": [ 6799 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3602", "EFO:0005595", "GARD:0007199", "ICD10CM:G92", "ICD10WHO:G92", "ICD9:349.82", "MESH:D020258", "NCIT:C27961", "SCTID:28394000", "Wikipedia:Toxic_encephalopathy" ], "synonyms": [ "neurotoxicity", "neurotoxicity syndrome", "neurotoxicity syndromes" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A group of neurologic disorders caused by damage to the nervous system following exposure to pharmacologic, biologic, and chemical agents. Examples of neurotoxins include chemotherapy agents, radiation treatment, heavy metals, pesticides, and food additives." }, "child_count": 5, "reference_id": "MONDO:0005527" }, { "id": 7298, "label": "Barre-Lieou syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6799 ], "type_id": 0, "properties": { "xrefs": [ "DOID:6692", "ICD10CM:M53.0", "ICD9:723.2", "MEDGEN:87688", "MESH:D055010", "NCIT:C34411", "SCTID:17300000", "UMLS:C0376378" ], "synonyms": [ "Cervicocranial syndrome", "posterior cervical sympathetic syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neurologic syndrome following injury of the spinal sympathetic nerves of the neck. The injury usually results from arthritis or pinching by the adjacent vertebrae. Symptoms include facial pain, chronic allergies, dizziness, neck pain, ear pain and vertigo." }, "child_count": 0, "reference_id": "MONDO:0005663" }, { "id": 7393, "label": "Gerstmann syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6799 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4969", "EFO:0007285", "GARD:0008660", "ICD9:784.69", "MEDGEN:42208", "MESH:D005862", "MedDRA:10048608", "NORD:1180", "Orphanet:221117", "SCTID:36785009", "UMLS:C0017494", "icd11.foundation:1121787098" ], "synonyms": [ "GS", "Gerstmann Badal syndrome", "Gerstmann tetrad", "developmental Gerstmann syndrome" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Gerstmann syndrome is a very rare neurological disorder characterized by the specific association of acalculia, finger agnosia, left-right disorientation, and agraphia, which is supposed to be secondary to a focal subcortical white matter damage in the parietal lobe." }, "child_count": 0, "reference_id": "MONDO:0005773" }, { "id": 8188, "label": "drug-induced akathisia", "isLeaf": true, "isRoot": false, "parents": [ 6799 ], "type_id": 0, "properties": { "xrefs": [ "ICD10CM:G25.71", "ICD9:333.99", "MEDGEN:57937", "MESH:D017109", "MedDRA:10001540", "SCTID:230333002", "UMLS:C0162550" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An uncomfortable feeling of inner restlessness and inability to stay still. It can be a side effect of psychotropic medications." }, "child_count": 0, "reference_id": "MONDO:0006731" }, { "id": 8189, "label": "drug-induced dyskinesia", "isLeaf": true, "isRoot": false, "parents": [ 6799 ], "type_id": 0, "properties": { "xrefs": [ "EFO:1000904", "ICD9:333.99", "MEDGEN:3935", "MESH:D004409", "MedDRA:10013916", "SCTID:102448004", "UMLS:C0013386" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Abnormal movements, including hyperkinesis; hypokinesia; tremor; and dystonia, associated with the use of certain medications or drugs. Muscles of the face, trunk, neck, and extremities are most commonly affected. Tardive dyskinesia refers to abnormal hyperkinetic movements of the muscles of the face, tongue, and neck associated with the use of neuroleptic agents (see antipsychotic agents). (Adams et al., Principles of Neurology, 6th ed, p1199)" }, "child_count": 0, "reference_id": "MONDO:0006732" }, { "id": 9782, "label": "stiff-person syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 6799 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13366", "EFO:0007498", "GARD:0005023", "ICD10CM:G25.82", "ICD9:333.91", "MEDGEN:39017", "MESH:D016750", "MedDRA:10042044", "NCIT:C85170", "NORD:1740", "OMIM:184850", "Orphanet:3198", "SCTID:5217008", "UMLS:C0085292" ], "synonyms": [ "Moersch-Woltman syndrome", "Stiff Person Syndrome", "Stiff Person syndrome", "Stiff-man syndrome", "stiff-person syndrome", "Morsch Woltman syndrome", "SMS", "SPS", "STIFF-PERSON syndrome", "Stiff person syndrome and related disorders", "Stiff-Man syndrome", "Stiff-trunk syndrome", "progressive encephalomyelitis with rigidity" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Stiff-man syndrome (SMS) is a rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia, an exaggerated startle response, and ankylosing deformities such as fixed lumbar hyperlordosis." }, "child_count": 6, "reference_id": "MONDO:0008491" }, { "id": 9794, "label": "Worster-Drought syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6799 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005598", "MEDGEN:163228", "MESH:C536747", "NANDO:1200558", "OMIM:185480", "Orphanet:3465", "SCTID:716335003", "UMLS:C0796204", "icd11.foundation:1834138618" ], "synonyms": [ "Worster-Drought syndrome", "congenital suprabulbar paresis", "Worster Drought syndrome", "suprabulbar paresis congenital", "suprabulbar paresis, congenital" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Worster-Drought syndrome (WDS) is a form of cerebral palsy characterized by congenital pseudobulbar (suprabulbar) paresis manifesting as selective weakness of the lips, tongue and soft palate, dysphagia, dysphonia, drooling and jaw jerking." }, "child_count": 0, "reference_id": "MONDO:0008503" }, { "id": 11252, "label": "corneal-cerebellar syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6639, 6799 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001525", "MEDGEN:341379", "MESH:C535472", "OMIM:271310", "Orphanet:3177", "SCTID:720750004", "UMLS:C1849087", "icd11.foundation:577494924" ], "synonyms": [ "Der Kaloustian-Jarudi-Khoury syndrome", "corneal-cerebellar syndrome", "spinocerebellar degeneration-corneal dystrophy syndrome", "Der Kaloustian Jarudi Khoury syndrome", "corneal cerebellar syndrome", "corneal dystrophy with spinocerebellar Degeneration", "spinocerebellar degeneration and corneal dystrophy", "spinocerebellar degeneration corneal dystrophy" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985." }, "child_count": 0, "reference_id": "MONDO:0010063" }, { "id": 11976, "label": "pachygyria-intellectual disability-epilepsy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6799 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000409", "MEDGEN:333107", "MESH:C538091", "OMIM:600176", "Orphanet:2798", "SCTID:763861000", "UMLS:C1838491" ], "synonyms": [ "Kuzniecky syndrome", "pachygyria with intellectual disability and seizures", "pachygyria with intellectual disability, seizures, and arachnoid cysts", "pachygyria with mental retardation and seizures", "pachygyria with mental retardation, seizures, and arachnoid cysts", "pachygyria, intellectual disability and epilepsy", "pachygyria, mental retardation and epilepsy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated." }, "child_count": 0, "reference_id": "MONDO:0010840" }, { "id": 12162, "label": "porencephaly-cerebellar hypoplasia-internal malformations syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6799 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004437", "MEDGEN:331296", "MESH:C536336", "OMIM:601322", "Orphanet:2941", "SCTID:763821001", "UMLS:C1832472" ], "synonyms": [ "Bonnemann-Meinecke syndrome", "Bonnemann Meinecke syndrome", "porencephaly cerebellar hypoplasia internal malformations", "porencephaly, cerebellar hypoplasia, and internal malformations" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterized by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed." }, "child_count": 0, "reference_id": "MONDO:0011036" }, { "id": 16152, "label": "symmetrical thalamic calcifications", "isLeaf": true, "isRoot": false, "parents": [ 6799 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005070", "MEDGEN:930583", "Orphanet:1314", "SCTID:719164000", "UMLS:C4304914" ], "synonyms": [ "bilateral symmetrical thalamic gliosis" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Symmetrical thalamic calcifications are clinically distinguished by a low Apgar score, spasticity or marked hypotonia, weak or absent cry, poor feeding, and facial diplegia or weakness." }, "child_count": 0, "reference_id": "MONDO:0015269" }, { "id": 16192, "label": "neonatal brainstem dysfunction", "isLeaf": true, "isRoot": false, "parents": [ 6799 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019892", "MEDGEN:1665998", "Orphanet:137929", "UMLS:C4749374" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Neonatal brainstem dysfunction is a rare neurologic disease characterized by the association of suction-swallowing dysfunction, abnormal laryngeal sensitivity and motility (manifesting with dyspnea or obstructive apnea-hypopnea), gastroesophageal reflux (generally resistant to medication) and cardiac vagal overactivity (e.g. brachycardia, vasovagal episodes) of varying degrees of severity. Impaired social interaction has also been reported." }, "child_count": 0, "reference_id": "MONDO:0015315" }, { "id": 16612, "label": "primary orthostatic hypotension", "isLeaf": false, "isRoot": false, "parents": [ 6799 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1842969", "Orphanet:182058", "UMLS:C5680599" ], "synonyms": [ "neurogenic orthostatic hypotension" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Primary orthostatic hypotension is a rare type of orthostatic hypotension. It is not a disease per se, but a condition caused by several disorders that affect a specific part of the autonomic nervous system, such as multiple system atrophy, young-onset Parkinson's disease, pure autonomic failure, dopamine beta-hydroxylase deficiency, familial dysautonomia, and pure autonomic failure among others. The autonomic nervous system is the part of the nervous system that regulates certain involuntary body functions such as heart rate, blood pressure, sweating, and bowel and bladder control. Orthostatic hypotension is a form of low blood pressure that happens when standing-up from sitting or lying down. Common symptoms may include dizziness, lightheadedness, generalized weakness, leg buckling, nausea, blurry vision, fatigue, and headaches. Additional symptoms can include chest pain (angina), head and neck pain (often affecting neck and shoulders with a coat hanger distribution), decline in cognitive functioning such as difficulty concentrating, temporary loss of consciousness or “blackout”. Some people with primary orthostatic hypotension may also have high blood pressure when lying down. The treatment depends upon several factors including the specific underlying cause including The treatment depends upon several factors including the specific underlying cause and may include physical counter-maneuvers like lying down, sitting down, squatting clenching buttocks, leg crossing, and support garment and medication." }, "child_count": 2, "reference_id": "MONDO:0015914" }, { "id": 16727, "label": "rippling muscle disease with myasthenia gravis", "isLeaf": true, "isRoot": false, "parents": [ 6799, 20379 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020353", "MEDGEN:1657345", "Orphanet:206575", "UMLS:C4749335", "icd11.foundation:327350590" ], "synonyms": [ "acquired rippling muscle disease", "Rmd-MG", "immune-mediated rippling muscle disease" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0016100" }, { "id": 16738, "label": "periodic paralysis", "isLeaf": false, "isRoot": false, "parents": [ 6799 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020374", "HP:0003768", "ICD10CM:G72.3", "MEDGEN:488958", "MedDRA:10016208", "Orphanet:206976", "UMLS:C1279412", "icd11.foundation:577112387" ], "synonyms": [ "periodic paralysis", "periodic paralysis (disease)" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 1, "reference_id": "MONDO:0016122" }, { "id": 16744, "label": "qualitative or quantitative protein defects in neuromuscular diseases", "isLeaf": false, "isRoot": false, "parents": [ 6799 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020388", "MEDGEN:1842598", "Orphanet:207049", "UMLS:C5680807" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 19, "reference_id": "MONDO:0016139" }, { "id": 16806, "label": "specific learning disability", "isLeaf": false, "isRoot": false, "parents": [ 6799 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:871302", "MESH:D000067559", "Orphanet:211047", "UMLS:C4025790" ], "synonyms": [ "specific learning difficulty", "specific learning disorder" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Diagnosed when there are specific deficits in an individualbs ability to perceive or process information efficiently and accurately. This disorder first manifests during the years of formal schooling and is characterized by persistent and impairing difficulties with learning foundational academic skills in reading, writing, and/or math. The individualbs performance of the affected academic skills is well below average for age, or acceptable performance levels are achieved only with extraordinary effort. Specific learning disorder may occur in individuals identified as intellectually gifted and manifest only when the learning demands or assessment procedures (e.g., timed tests) pose barriers that cannot be overcome by their innate intelligence and compensatory strategies. For all individuals, specific learning disorder can produce lifelong impairments in activities dependent on the skills, including occupational performance. (from dsm-V)" }, "child_count": 2, "reference_id": "MONDO:0016225" }, { "id": 16921, "label": "cerebellar hypoplasia-tapetoretinal degeneration syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6799 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070339", "GARD:0001196", "MEDGEN:902621", "Orphanet:2246", "UMLS:C4275139" ], "synonyms": [ "cerebellar hypoplasia tapetoretinal degeneration" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Cerebellar hypoplasia-tapetoretinal degeneration syndrome is a rare syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus." }, "child_count": 0, "reference_id": "MONDO:0016392" }, { "id": 17061, "label": "locked-in syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6799 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12697", "GARD:0006919", "ICD10CM:G83.5", "ICD9:344.81", "MEDGEN:7378", "MESH:D000080422", "MedDRA:10024792", "NORD:1376", "Orphanet:2406", "SCTID:38023001", "UMLS:C0023944", "icd11.foundation:17562655" ], "synonyms": [ "Cerebromedullospinal disconnection", "Locked In Syndrome", "locked-in state" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Locked-in syndrome (LIS) is a neurological condition characterized by the presence of sustained eye opening, quadriplegia or quadriparesis, anarthria, preserved cognitive functioning and a primary code of communication that uses vertical eye movements or blinking." }, "child_count": 0, "reference_id": "MONDO:0016567" }, { "id": 17241, "label": "dopa-responsive dystonia", "isLeaf": false, "isRoot": false, "parents": [ 6795, 6799 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012144", "MESH:C538007", "NANDO:1200516", "NANDO:2200885", "NCIT:C116719", "Orphanet:255", "SCTID:230332007", "icd11.foundation:1534901505" ], "synonyms": [ "DYT5 dystonia", "HPD with diurnal fluctuation", "Segawa's disease", "dopa-responsive dystonia", "hereditary progressive dystonia with diurnal fluctuation", "DYT-GCH1 (subtype)", "DYT-SPR (subtype)", "DYT-TH (subtype)", "DYT5" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency." }, "child_count": 8, "reference_id": "MONDO:0016812" }, { "id": 17513, "label": "idiopathic recurrent stupor", "isLeaf": true, "isRoot": false, "parents": [ 6799, 24405 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021045", "MEDGEN:1645620", "Orphanet:276174", "SCTID:763739002", "UMLS:C4706562", "icd11.foundation:1473114049" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Idiopathic recurrent stupor is a rare neurologic disease characterized by unpredictable, transient and spontaneous unresponsiveness lasting from hours to days, with a frequency of three to seven attacks per year, in the absence of readily discernible toxic, metabolic or structural causes." }, "child_count": 0, "reference_id": "MONDO:0017170" }, { "id": 17619, "label": "chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids", "isLeaf": true, "isRoot": false, "parents": [ 6799 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010779", "MEDGEN:1433964", "Orphanet:284448", "UMLS:C3854437", "icd11.foundation:913443626" ], "synonyms": [ "CLIPPERS", "chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0017297" }, { "id": 17858, "label": "spontaneous periodic hypothermia", "isLeaf": true, "isRoot": false, "parents": [ 6799 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004815", "MEDGEN:419438", "MESH:C537594", "Orphanet:29822", "UMLS:C2931542" ], "synonyms": [ "Shapiro syndrome", "episodic spontaneous hypothermia", "Shapiro's syndrome", "recurrent spontaneous hypothermia with hypoplasia of the corpus callosum", "spontaneous periodic hypothermia syndrome", "spontaneous recurrent hypothermia syndrome" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Spontaneous periodic hypothermia (SPH) is a neurological disorder characterized by spontaneous periodic hypothermia and hyperhidrosis in the absence of hypothalamic lesions." }, "child_count": 0, "reference_id": "MONDO:0017577" }, { "id": 17913, "label": "Sydenham chorea", "isLeaf": true, "isRoot": false, "parents": [ 6799 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0007716", "MEDGEN:57506", "MedDRA:10042732", "NCIT:C168445", "Orphanet:306731", "UMLS:C0152113", "icd11.foundation:1295812812" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neurological disorder characterized by rapid, jerky, irregular, and involuntary movements (chorea), especially of the face and limbs. Additional symptoms may include muscle weakness, slurred speech, headaches, and seizures." }, "child_count": 0, "reference_id": "MONDO:0017648" }, { "id": 18029, "label": "duplication of the pituitary gland", "isLeaf": true, "isRoot": false, "parents": [ 6799, 6875, 20383 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021381", "MEDGEN:1663161", "Orphanet:314621", "UMLS:C4755258" ], "synonyms": [ "DPG-plus syndrome", "Duplication of the pituitary gland-plus syndrome", "hypophyseal duplication" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0017808" }, { "id": 18344, "label": "Balint syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6799 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021558", "MEDGEN:1646315", "Orphanet:363746", "SCTID:765212008", "UMLS:C4707368", "icd11.foundation:491228434" ], "synonyms": [ "Balint-Holmes syndrome", "optic ataxia-gaze apraxia-simultanagnosia syndrome", "psychic paralysis of visual fixation" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Balint syndrome is a rare neurologic disease characterized by the triad of optic ataxia, ocular apraxia and simultanagnosia due to posterior parietal lobe lesions. Patients report ophthalmologic difficulties in the absence of underlying ophthalomologic anomalies and present severe visual and spatial disabilities in locating and reaching objects, initiating voluntary eye movements and perceiving more than one object at a time." }, "child_count": 0, "reference_id": "MONDO:0018211" }, { "id": 18348, "label": "paraneoplastic neurologic syndrome", "isLeaf": false, "isRoot": false, "parents": [ 6799, 20314 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0007326", "ICD9:331.89", "MEDGEN:155656", "MedDRA:10072106", "Orphanet:36388", "SCTID:192877007", "UMLS:C0751911" ], "synonyms": [ "PCD", "PNS", "nervous system paraneoplastic syndrome", "paraneoplastic syndrome of nervous system", "paraneoplastic cerebellar degeneration" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A paraneoplastic syndrome that involves the nervous system." }, "child_count": 14, "reference_id": "MONDO:0018215" }, { "id": 18445, "label": "persistent idiopathic facial pain", "isLeaf": true, "isRoot": false, "parents": [ 6799, 24405 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021649", "ICD10CM:G50.1", "MEDGEN:1673850", "Orphanet:398147", "UMLS:C5191641", "icd11.foundation:1799118131" ], "synonyms": [ "AFP", "PIFP", "atypical facial pain" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0018362" }, { "id": 18562, "label": "serotonin syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6799 ], "type_id": 0, "properties": { "xrefs": [ "EFO:1001842", "GARD:0018828", "ICD9:333.99", "MEDGEN:152119", "MESH:D020230", "MedDRA:10040108", "Orphanet:43116", "SCTID:371089000", "UMLS:C0699828", "icd11.foundation:678764364" ], "synonyms": [ "serotonergic syndrome", "serotonin storm", "serotonin toxicity", "serotonin toxidrome" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Serotoninergic syndrome is characterized by an excess of serotonin in the central nervous system, associated with the use of various agents, including selective serotonin reuptake inhibitors (SSRIs)." }, "child_count": 0, "reference_id": "MONDO:0018546" }, { "id": 18619, "label": "hypothalamic adipsic hypernatraemia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6799, 6875 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021850", "MEDGEN:1814472", "NANDO:2200325", "Orphanet:443101", "UMLS:C5681196" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0018620" }, { "id": 18719, "label": "exercise-induced malignant hyperthermia", "isLeaf": true, "isRoot": false, "parents": [ 6799 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021936", "MEDGEN:1814609", "Orphanet:466650", "SCTID:735907005", "UMLS:C5700399" ], "synonyms": [ "Exertional heat stroke" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0018752" }, { "id": 18916, "label": "perineural cyst", "isLeaf": true, "isRoot": false, "parents": [ 6799 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027868", "ICD10CM:G96.191", "MEDGEN:105457", "MESH:D052958", "Orphanet:65250", "SCTID:81634008", "UMLS:C0520720", "icd11.foundation:881909739" ], "synonyms": [ "Tarlov cyst", "Tarlov cysts", "perineural cysts", "sacral Tarlov cysts", "sacral neural cysts", "sacral perineural cysts" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Perineural (or Tarlov) cysts are cerebrospinal fluid-filled nerve root cysts most commonly found at the sacral level of the spine, although they can be found in any section of the spine, which can cause progressively painful radiculopathy." }, "child_count": 0, "reference_id": "MONDO:0019000" }, { "id": 18957, "label": "neuromuscular disease", "isLeaf": false, "isRoot": false, "parents": [ 6799 ], "type_id": 0, "properties": { "xrefs": [ "DOID:440", "EFO:1001902", "ICD9:358", "ICD9:358.9", "MEDGEN:10323", "MESH:D009468", "MedDRA:10029323", "NANDO:1100001", "NANDO:2100214", "Orphanet:68381", "UMLS:C0027868" ], "synonyms": [ "nerve and muscle disorder", "neuromuscular disease" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any disease that impairs the functioning of the muscles, either directly, being pathologies of the voluntary muscle, or indirectly, being pathologies of nerves or neuromuscular junctions" }, "child_count": 8, "reference_id": "MONDO:0019056" }, { "id": 18986, "label": "neuromyelitis optica", "isLeaf": false, "isRoot": false, "parents": [ 6799, 23388 ], "type_id": 0, "properties": { "xrefs": [ "DOID:8869", "EFO:0004256", "GARD:0006267", "ICD10CM:G36.0", "ICD9:341.0", "MEDGEN:45063", "MESH:D009471", "MedDRA:10029322", "NANDO:1200027", "NANDO:2201322", "NCIT:C84934", "NORD:1505", "Orphanet:71211", "SCTID:25044007", "UMLS:C0027873", "icd11.foundation:744293382" ], "synonyms": [ "Devic disease", "Neuromyelitis Optica Spectrum Disorder", "Devic syndrome", "Devic's neuromyelitis optica", "NMO" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A rare inflammatory disease of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis." }, "child_count": 6, "reference_id": "MONDO:0019100" }, { "id": 19265, "label": "AL amyloidosis", "isLeaf": false, "isRoot": false, "parents": [ 6799, 7996, 16875, 16883, 18960 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080933", "GARD:0005797", "MEDGEN:75674", "MESH:C531616", "MedDRA:10036673", "NANDO:1200211", "NCIT:C158963", "Orphanet:85443", "UMLS:C0268381", "icd11.foundation:1061366491", "icd11.foundation:113043090" ], "synonyms": [ "Light-chain amyloidosis", "primary amyloidosis", "Light chain amyloidosis", "amyloidosis AL", "amyloidosis primary systemic", "primary AL amyloidosis", "primary systemic AL amyloidosis", "primary systemic amyloidosis", "systemic AL amyloidsis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor. It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA) restricted to a single organ." }, "child_count": 10, "reference_id": "MONDO:0019438" }, { "id": 19266, "label": "AA amyloidosis", "isLeaf": true, "isRoot": false, "parents": [ 6799, 16883, 18960 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080936", "GARD:0010560", "ICD9:277.39", "MEDGEN:782429", "MedDRA:10039811", "NCIT:C3818", "Orphanet:85445", "SCTID:281034005", "UMLS:C3536715", "icd11.foundation:570181034" ], "synonyms": [ "inflammatory amyloidosis", "reactive amyloidosis", "secondary amyloidosis", "amyloid A amyloidosis", "amyloidosis AA" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Secondary amyloidosis is a form of amyloidosis, that complicates chronic inflammatory disorders (mainly rheumatoid arthritis) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement." }, "child_count": 0, "reference_id": "MONDO:0019439" }, { "id": 19533, "label": "neuroleptic malignant syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6799 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14464", "EFO:1001379", "GARD:0007195", "ICD10CM:G21.0", "ICD9:333.92", "MEDGEN:10320", "MESH:D009459", "MedDRA:10029282", "NCIT:C94829", "NORD:1504", "Orphanet:94093", "SCTID:15244003", "UMLS:C0027849", "icd11.foundation:498240876" ], "synonyms": [ "NMS" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Neuroleptic malignant syndrome (NMS) is an idiosyncratic condition associated with administration of antipsychotic and other central dopaminergic blockers, and characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness." }, "child_count": 0, "reference_id": "MONDO:0019790" }, { "id": 19708, "label": "infectious disorder of the nervous system", "isLeaf": false, "isRoot": false, "parents": [ 6799, 7200 ], "type_id": 0, "properties": { "xrefs": [ "ICD9:349.89", "MEDGEN:108926", "NCIT:C27590", "Orphanet:98010", "SCTID:128116006", "UMLS:C0597039" ], "synonyms": [ "nervous system infectious disease", "nervous system infectious disorder" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A infectious disease that involves the nervous system." }, "child_count": 20, "reference_id": "MONDO:0020010" }, { "id": 19709, "label": "central nervous system malformation", "isLeaf": false, "isRoot": false, "parents": [ 6799, 19507 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019394", "ICD10CM:Q00-Q07", "MEDGEN:374250", "MESH:D009421", "NANDO:2200118", "Orphanet:98044", "UMLS:C1839543" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 108, "reference_id": "MONDO:0020022" }, { "id": 20268, "label": "synaptopathy", "isLeaf": false, "isRoot": false, "parents": [ 6799 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A disease caused by dysfunction of synapses." }, "child_count": 1, "reference_id": "MONDO:0021017" }, { "id": 20456, "label": "nervous system neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 6798, 6799 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:45046", "NCIT:C3268", "UMLS:C0027766" ], "synonyms": [ "neoplasm of nervous system", "neoplasm of the nervous system", "nervous system neoplasm (disease)", "nervous system neoplasms", "nervous system tumor", "nervous system tumour", "tumor of nervous system", "tumor of the nervous system", "tumour of nervous system", "tumour of the nervous system" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neoplasm (disease) that involves the nervous system." }, "child_count": 14, "reference_id": "MONDO:0021248" }, { "id": 20464, "label": "sensory ganglionopathy", "isLeaf": false, "isRoot": false, "parents": [ 6799 ], "type_id": 0, "properties": { "synonyms": [ "disease of sensory ganglion", "disease or disorder of sensory ganglion", "disorder of sensory ganglion", "sensory ganglion disease", "sensory ganglion disease or disorder" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A disease or disorder that involves the sensory ganglion." }, "child_count": 4, "reference_id": "MONDO:0021260" }, { "id": 20750, "label": "radiculitis", "isLeaf": true, "isRoot": false, "parents": [ 6799, 20399 ], "type_id": 0, "properties": { "xrefs": [ "ICD9:729.2", "MEDGEN:11099", "NCIT:C78581", "SCTID:82473003", "UMLS:C0034544" ], "synonyms": [ "radiculitis", "Inflammation, Nerve Root", "Nerve Root Inflammation", "Nerve Root Inflammations", "Radiculitides", "Radiculitis" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An inflammatory process affecting a nerve root. Patients experience pain radiating along a nerve path because of spinal pressure on the nerve root that connects to the nerve path." }, "child_count": 0, "reference_id": "MONDO:0021765" }, { "id": 21284, "label": "wet beriberi", "isLeaf": true, "isRoot": false, "parents": [ 6799, 8143 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070317", "ICD10CM:E51.12", "MEDGEN:541400", "UMLS:C0268669", "icd11.foundation:1753713002" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0024183" }, { "id": 21402, "label": "perceptual disorders", "isLeaf": false, "isRoot": false, "parents": [ 6799 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:45392", "MESH:D010468", "UMLS:C0030975" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body." }, "child_count": 9, "reference_id": "MONDO:0024417" }, { "id": 22755, "label": "prepubertal anorexia nervosa", "isLeaf": true, "isRoot": false, "parents": [ 6799, 7036 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022191", "MEDGEN:1799990", "Orphanet:525738", "UMLS:C5568567" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0033926" }, { "id": 23107, "label": "neurocutaneous syndrome", "isLeaf": false, "isRoot": false, "parents": [ 6799 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:82706", "MESH:D020752", "NANDO:2100220", "NCIT:C84348", "SCTID:78572006", "UMLS:C0265316" ], "synonyms": [ "neurocutaneous syndrome", "Phacomatoses", "Phacomatosis", "Phakomatoses", "neurocutaneous disorder", "neurocutaneous disorders", "neuroectodermal dysplasia", "neuroectodermal dysplasia syndrome", "neuroectodermal dysplasia syndromes", "phakomatosis", "syndrome, neurocutaneous", "syndrome, neuroectodermal dysplasia", "syndromes, neurocutaneous", "syndromes, neuroectodermal dysplasia" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs." }, "child_count": 9, "reference_id": "MONDO:0042983" }, { "id": 23165, "label": "neurovascular disorder", "isLeaf": false, "isRoot": false, "parents": [ 6799, 7065 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:857738", "NCIT:C117007", "UMLS:C3898144" ], "synonyms": [ "disease of nervous system vasculature", "nervous system disorder of vasculature", "neurovascular disorder", "vasculature nervous system disorder" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A disorder of the nervous system related to a vascular etiology." }, "child_count": 58, "reference_id": "MONDO:0043218" }, { "id": 23182, "label": "Wallerian degeneration", "isLeaf": true, "isRoot": false, "parents": [ 6799 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:12132", "MESH:D014855", "NCIT:C85223", "UMLS:C0043020" ], "synonyms": [ "Wallerian Degeneration", "Degeneration, Wallerian", "Wallerian degeneration of the pyramidal tract" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A condition caused by degeneration, atrophy, and destruction of the distal part of a nerve fiber's axon and myelin, when continuity with the neural cell nucleus has been severed due to injury. Signs and symptoms include muscle weakness, altered sensation, and limb numbness." }, "child_count": 0, "reference_id": "MONDO:0043280" }, { "id": 23420, "label": "nervous system injury", "isLeaf": false, "isRoot": false, "parents": [ 6799, 20408 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0009490", "MESH:D020196", "SCTID:128239009" ], "synonyms": [ "injury of nervous system", "nervous system injury", "Injuries, craniocervical", "Injuries, nervous system", "craniocervical Injuries", "craniocervical injury", "injury, craniocervical", "injury, nervous system", "nervous system Injuries", "nervous system Traumas", "nervous system trauma" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Traumatic injuries to the brain, cranial nerves, spinal cord, autonomic nervous system, or neuromuscular system, including iatrogenic injuries induced by surgical procedures." }, "child_count": 4, "reference_id": "MONDO:0044745" }, { "id": 23533, "label": "neurosarcoidosis", "isLeaf": false, "isRoot": false, "parents": [ 6799, 19178 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025938", "MEDGEN:97948", "MESH:C535814", "SCTID:230193008", "UMLS:C0393485", "icd11.foundation:1479285656" ], "synonyms": [ "nervous system sarcoidosis", "neurosarcoidosis", "sarcoidosis of nervous system" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A sarcoidosis that involves the nervous system." }, "child_count": 2, "reference_id": "MONDO:0045047" }, { "id": 23822, "label": "neuroendocrine disorder", "isLeaf": false, "isRoot": false, "parents": [ 6799, 6875 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1843486", "UMLS:C0541403" ], "synonyms": [ "neuroendocrine system disease" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A disease or disorder that affects the neuroendocrine gland, any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli." }, "child_count": 8, "reference_id": "MONDO:0100070" }, { "id": 23895, "label": "tubulinopathy", "isLeaf": false, "isRoot": false, "parents": [ 6799 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112227" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A nervous system disorder characterized by complex cortical malformations including in most cases dysmorphic basal ganglia and/or corpus callosum in which the cause of the disease is a variation in a tubulin gene." }, "child_count": 4, "reference_id": "MONDO:0100153" }, { "id": 24044, "label": "atactic disorder", "isLeaf": false, "isRoot": false, "parents": [ 6799 ], "type_id": 0, "properties": { "synonyms": [ "ataxic disorder", "ataxia" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A central nervous system disease that consists of gait impairment, unclear (“scanning”) speech, visual blurring due to nystagmus, hand incoordination, and tremor with movement." }, "child_count": 4, "reference_id": "MONDO:0100308" }, { "id": 24270, "label": "hereditary neurological disease", "isLeaf": false, "isRoot": false, "parents": [ 5714, 6799 ], "type_id": 0, "properties": { "synonyms": [ "neurogenetic disease" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles." }, "child_count": 528, "reference_id": "MONDO:0100545" }, { "id": 24342, "label": "meningitis-retention syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4253, 6799 ], "type_id": 0, "properties": { "synonyms": [ "MRS" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neuro-urological condition characterized by aseptic meningitis, typically without any clear causative agent, associated with acute urinary retention. The typical symptoms and neurological signs of aseptic meningitis are usually mild or absent, so the predominant symptom often turns out to be isolated acute urinary retention. Although several cases are reported in the literature, MRS actual prevalence is underestimated. These factors make an early diagnosis of MRS difficult." }, "child_count": 0, "reference_id": "MONDO:0100623" }, { "id": 24451, "label": "KIF1A related neurological disorder", "isLeaf": false, "isRoot": false, "parents": [ 6799 ], "type_id": 0, "properties": { "xrefs": [ "PMID:37259299" ], "synonyms": [ "KAND", "KIF1A neurological disorder", "neurological disorder caused by mutation in KIF1A", "neurological disorder caused by variation in KIF1A" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "KIF1A-associated neurological disorder (KAND) encompasses a group of rare neurodegenerative conditions caused by variants in KIF1A" }, "child_count": 3, "reference_id": "MONDO:0700055" }, { "id": 24453, "label": "neurological pain disorder", "isLeaf": false, "isRoot": false, "parents": [ 6799 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:602552", "UMLS:C0423704" ], "synonyms": [ "neurologic pain syndrome", "neurological pain disease" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A nervous system disorder that has pain as a major feature." }, "child_count": 9, "reference_id": "MONDO:0700057" }, { "id": 24488, "label": "neurodevelopmental disorder", "isLeaf": false, "isRoot": false, "parents": [ 6799 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0010642", "MEDGEN:453059", "MESH:D065886", "MedDRA:10064062", "NCIT:C89338", "SCTID:700364009", "UMLS:C1535926" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions." }, "child_count": 18, "reference_id": "MONDO:0700092" }, { "id": 26157, "label": "post 5-alpha-reductase inhibitors treatment syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6799 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027412", "MEDGEN:1876574", "Orphanet:686468", "UMLS:C6012349" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0975897" }, { "id": 26158, "label": "post-selective serotonin reuptake inhibitor sexual dysfunction", "isLeaf": true, "isRoot": false, "parents": [ 6799 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027413", "MEDGEN:1876676", "Orphanet:686475", "UMLS:C5554271" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0975898" } ], "roots": [ { "id": 29379, "label": "disease by body system or component" } ] }