{ "id": 7073, "label": "movement disorder", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0005395", "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." }, "isLeaf": false, "isRoot": false, "child_count": 54, "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": 2908, "label": "cerebellar ataxia", "isLeaf": false, "isRoot": false, "parents": [ 7073, 20940, 24044 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050753", "GARD:0019816", "ICD9:334.3", "MEDGEN:849", "MESH:D002524", "NANDO:1200037", "NANDO:2100238", "NANDO:2200882", "NCIT:C82341", "Orphanet:102002", "SCTID:85102008", "UMLS:C0007758" ], "synonyms": [ "ataxia syndrome", "cerebellar ataxias", "spinocerebellar ataxia", "spinocerebellar degeneration", "ataxia", "ataxia, cerebellar", "ataxias, cerebellar", "cerebellar dysmetria", "cerebellar dysmetrias", "rare ataxia" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neurological syndrome characterized by clumsy and uncoordinated movement of the limbs, trunk, and cranial muscles. It results from pathology in the cerebellum and its connections, or in the proprioceptive sensory pathways." }, "child_count": 3, "reference_id": "MONDO:0000437" }, { "id": 3327, "label": "chronic tic disorder", "isLeaf": true, "isRoot": false, "parents": [ 4509, 7073 ], "type_id": 0, "properties": { "xrefs": [ "DOID:10600", "ICD10CM:F95.1", "ICD9:307.22", "MEDGEN:40301", "NCIT:C116768", "UMLS:C0008701" ], "synonyms": [ "chronic motor or vocal tic disorder", "tic disorder, chronic" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neurological disorder presenting in childhood that is characterized by either motor or phonic tics, but not both, that occur daily or nearly daily for at least a year and are not attributed to an identifiable cause." }, "child_count": 0, "reference_id": "MONDO:0001074" }, { "id": 3794, "label": "choreatic disease", "isLeaf": false, "isRoot": false, "parents": [ 7073 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12859", "EFO:0004152", "GARD:0015152", "HP:0002072", "ICD9:333.5", "MEDGEN:3420", "MESH:D002819", "NCIT:C84633", "Orphanet:1429", "SCTID:230298007", "SCTID:230306001", "UMLS:C0008489", "icd11.foundation:829618737" ], "synonyms": [ "benign familial chorea", "BHC", "chorea, benign hereditary", "hereditary benign chorea", "hereditary progressive chorea without dementia", "Bch", "hereditary chorea" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neurological condition affecting the involuntary movements. It is characterized by brief, non-repetitive irregular muscle contractions. It is seen in patients with Huntington's disease." }, "child_count": 5, "reference_id": "MONDO:0001595" }, { "id": 3996, "label": "extrapyramidal and movement disease", "isLeaf": false, "isRoot": false, "parents": [ 7073 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13839", "ICD10CM:G20-G26", "ICD9:333.90", "MEDGEN:852565", "UMLS:C0477355" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 1, "reference_id": "MONDO:0001815" }, { "id": 4225, "label": "benign shuddering attacks", "isLeaf": true, "isRoot": false, "parents": [ 7073 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1713", "ICD10CM:G25.83", "ICD9:333.93", "MEDGEN:580931", "SCTID:446995005", "UMLS:C0375200" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0002085" }, { "id": 4508, "label": "transient tic disorder", "isLeaf": true, "isRoot": false, "parents": [ 4509, 7073 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2768", "ICD10CM:F95.0", "ICD9:307.21", "MEDGEN:52814", "NCIT:C116767", "SCTID:56573006", "UMLS:C0040702" ], "synonyms": [ "benign Tic disorder of childhood" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neurological disorder presenting in childhood that is characterized by motor and/or phonic tics that occur daily or nearly daily for one to twelve months and are not attributed to an identifiable cause." }, "child_count": 0, "reference_id": "MONDO:0002419" }, { "id": 5181, "label": "essential tremor", "isLeaf": false, "isRoot": false, "parents": [ 7073, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4990", "EFO:0003108", "ICD10CM:G25.0", "ICD9:333.1", "MEDGEN:78725", "MESH:D020329", "OMIMPS:190300", "Orphanet:862", "SCTID:609558009", "UMLS:C0270736" ], "synonyms": [ "essential hereditary tremor", "tremor, hereditary essential" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A relatively common disorder characterized by a fairly specific pattern of tremors which are most prominent in the upper extremities and neck, inducing titubations of the head. The tremor is usually mild, but when severe may be disabling. An autosomal dominant pattern of inheritance may occur in some families (i.e., familial tremor). (Mov Disord 1988;13(1):5-10)" }, "child_count": 12, "reference_id": "MONDO:0003233" }, { "id": 6655, "label": "lingual-facial-buccal dyskinesia", "isLeaf": true, "isRoot": false, "parents": [ 7073 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9854", "ICD9:333.82", "MEDGEN:57747", "SCTID:49386006", "UMLS:C0152115" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Syndromes which feature dyskinesias as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." }, "child_count": 0, "reference_id": "MONDO:0004901" }, { "id": 8270, "label": "kuru", "isLeaf": true, "isRoot": false, "parents": [ 7073, 7097, 18850 ], "type_id": 0, "properties": { "xrefs": [ "DOID:648", "EFO:1001008", "GARD:0007617", "ICD10CM:A81.81", "ICD9:046.0", "MEDGEN:9653", "MESH:D007729", "MedDRA:10023497", "Orphanet:454745", "SCTID:86188000", "UMLS:C0022802", "icd11.foundation:553889510" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A prion disease found exclusively among the Fore linguistic group natives of the highlands of new guinea. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773)" }, "child_count": 0, "reference_id": "MONDO:0006825" }, { "id": 8794, "label": "inherited Creutzfeldt-Jakob disease", "isLeaf": true, "isRoot": false, "parents": [ 7041, 7073, 21292 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017307", "MEDGEN:155837", "NANDO:1200189", "OMIM:123400", "Orphanet:282166", "SCTID:715807002", "UMLS:C0751254", "icd11.foundation:607607042" ], "synonyms": [ "Creutzfeldt-Jakob disease, variant, resistance to", "hereditary Creutzfeldt Jacob disease", "inherited CJD", "CJD", "Creutzfeldt-Jakob disease", "Creutzfeldt-Jakob disease, Heidenhain variant", "Creutzfeldt-Jakob disease, familial", "Creutzfeldt-Jakob disease, sporadic", "Creutzfeldt-Jakob disease, variant" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia." }, "child_count": 0, "reference_id": "MONDO:0007403" }, { "id": 9020, "label": "Tourette syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 4509, 7073, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11119", "EFO:0004895", "ICD10CM:F95.2", "ICD9:307.23", "MEDGEN:21219", "MESH:D005879", "NCIT:C35078", "OMIM:137580", "Orphanet:856", "SCTID:5158005", "UMLS:C0040517", "icd11.foundation:119340957" ], "synonyms": [ "Tourette disease", "Tourette syndrome", "Tourette's syndrome", "motor-verbal tic disorder", "GTS", "Gilles De 50A Tourette syndrome", "Gilles de la Tourette syndrome", "Tourette disorder", "chronic motor tics" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neurologic disorder caused by defective metabolism of the neurotransmitters in the brain. It is characterized by repeated involuntary movements (motor tics) and uncontrollable vocal sounds (vocal tics). The symptoms are usually manifested before the age of eighteen." }, "child_count": 0, "reference_id": "MONDO:0007661" }, { "id": 9067, "label": "clonic hemifacial spasm", "isLeaf": true, "isRoot": false, "parents": [ 4235, 7073 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017137", "ICD10CM:G51.3", "MEDGEN:374760", "MESH:C564198", "OMIM:141405", "Orphanet:221083", "UMLS:C1841639", "icd11.foundation:353312397", "icd11.foundation:64352031" ], "synonyms": [ "facial hemispasm", "focal myoclonus of face", "hemifacial spasm", "hemifacial spasm, familial" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0007713" }, { "id": 9090, "label": "Huntington disease", "isLeaf": false, "isRoot": false, "parents": [ 2754, 7073 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12858", "GARD:0006677", "ICD10CM:G10", "ICD10WHO:G10", "ICD9:333.4", "MEDGEN:5654", "MESH:D006816", "MedDRA:10070668", "NANDO:1200012", "NCIT:C82342", "NORD:1256", "OMIM:143100", "Orphanet:399", "SCTID:58756001", "UMLS:C0020179", "icd11.foundation:2132180242" ], "synonyms": [ "HD", "Huntington chorea", "Huntington disease", "Huntington's Disease", "Huntington's chorea", "Huntington's disease" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia." }, "child_count": 4, "reference_id": "MONDO:0007739" }, { "id": 9146, "label": "multiple system atrophy", "isLeaf": false, "isRoot": false, "parents": [ 2963, 7073 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4752", "EFO:1001050", "GARD:0007079", "MEDGEN:98276", "MESH:D019578", "MedDRA:10064060", "NANDO:1200034", "NCIT:C84909", "NORD:1472", "Orphanet:102", "UMLS:C0393571", "icd11.foundation:1890931931" ], "synonyms": [ "MSA", "Shy-Drager syndrome", "multisystem atrophy", "Shy-dragger syndrome (formerly)", "autonomic failure, Pure", "hypotension, orthostatic", "susceptibility to multiple system atrophy 1" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years." }, "child_count": 8, "reference_id": "MONDO:0007803" }, { "id": 9368, "label": "spinal muscular atrophy-progressive myoclonic epilepsy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 3724, 7073, 24249 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111527", "GARD:0003875", "ICD9:345.10", "MEDGEN:371854", "MESH:C537563", "OMIM:159950", "Orphanet:2590", "SCTID:703524005", "UMLS:C1834569" ], "synonyms": [ "Jankovic-Rivera syndrome", "hereditary myoclonus-progressive distal muscular atrophy syndrome", "Jankovic Rivera syndrome", "SMAPME", "hereditary myoclonus and progressive distal muscular atrophy", "myoclonus hereditary progressive distal muscular atrophy", "myoclonus, hereditary, with progressive distal muscular atrophy", "spinal muscular atrophy with progressive myoclonic epilepsy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus." }, "child_count": 0, "reference_id": "MONDO:0008045" }, { "id": 9514, "label": "benign paroxysmal tonic upgaze of childhood with ataxia", "isLeaf": true, "isRoot": false, "parents": [ 7073, 25337 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004176", "MEDGEN:401473", "MESH:C566817", "OMIM:168885", "Orphanet:1179", "SCTID:763127004", "UMLS:C1868576" ], "synonyms": [ "Ouvrier-Billson syndrome", "neuroocular syndrome 2, paroxysmal type", "Ouvrier Billson syndrome", "paroxysmal tonic upgaze, benign childhood, with ataxia" ], "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 paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset." }, "child_count": 0, "reference_id": "MONDO:0008206" }, { "id": 9874, "label": "hereditary geniospasm", "isLeaf": true, "isRoot": false, "parents": [ 7073 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009501", "MEDGEN:348757", "MESH:C537682", "OMIM:190100", "Orphanet:53372", "SCTID:718103001", "UMLS:C1860972" ], "synonyms": [ "familial trembling of the chin", "hereditary chin myoclonus", "hereditary chin-trembling", "GSM 1", "GSM1", "geniospasm", "geniospasm 1", "hereditary chin tremor/myoclonus", "trembling Chin" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Hereditary geniospasm is a movement disorder characterized by episodes of involuntary tremor of the chin and lower lip." }, "child_count": 0, "reference_id": "MONDO:0008588" }, { "id": 9877, "label": "tremor-nystagmus-duodenal ulcer syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7073 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003948", "MEDGEN:349908", "MESH:C536406", "OMIM:190310", "Orphanet:3350", "UMLS:C1860860" ], "synonyms": [ "Neuhauser-Daly-Magnelli syndrome", "Neuhauser Daly Magnelli syndrome", "tremor nystagmus duodenal ulcer", "tremor, NYSTAGMUS, and duodenal ulcer" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0008591" }, { "id": 10051, "label": "arthrogryposis", "isLeaf": false, "isRoot": false, "parents": [ 7073, 24270 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0003857", "MEDGEN:2455", "MESH:D001176", "NCIT:C84572", "UMLS:C0003886" ], "synonyms": [ "Arthrogryposes, congenital multiple", "congenital multiple Arthrogryposes", "congenital multiple arthrogryposis" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare, non-progressive congenital disorder characterized by multiple joint contractures which are present at birth." }, "child_count": 10, "reference_id": "MONDO:0008779" }, { "id": 10911, "label": "Lafora disease", "isLeaf": false, "isRoot": false, "parents": [ 4502, 7073, 19726 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3534", "GARD:0008214", "MEDGEN:155631", "MESH:D020192", "MedDRA:10054030", "NANDO:1200955", "NANDO:2200881", "NCIT:C84804", "NORD:143373", "OMIMPS:254780", "Orphanet:501", "SCTID:230425004", "UMLS:C0751783" ], "synonyms": [ "EPM2", "Lafora disease", "PME type 2", "epilepsy, progressive myoclonic 2A (Lafora)", "epilepsy, progressive myoclonic 2B (Lafora)", "myoclonic epilepsy of Lafora", "progressive myoclonic epilepsy type 2", "progressive myoclonus epilepsy type 2", "Epm2", "Lafora body disease", "Lafora body disorder", "Melf", "epilepsy progressive myoclonic 2", "epilepsy, progressive myoclonic, 2A", "epilepsy, progressive myoclonic, 2B" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline." }, "child_count": 6, "reference_id": "MONDO:0009697" }, { "id": 10912, "label": "Unverricht-Lundborg syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7073, 19726 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111452", "DOID:3535", "GARD:0003876", "MEDGEN:155923", "MESH:D020194", "MedDRA:10054895", "NANDO:1200954", "NANDO:2200880", "OMIM:254800", "Orphanet:308", "SCTID:230423006", "UMLS:C0751785" ], "synonyms": [ "PME type 1", "ULD", "Unverricht-Lundborg disease", "Unverricht-Lundborg syndrome", "epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)", "progressive myoclonic epilepsy type 1", "progressive myoclonus epilepsy type 1", "Baltic myoclonic epilepsy", "EPM1", "Uld", "epilepsy, progressive myoclonic type 1", "epilepsy, progressive myoclonic, 1", "epilepsy, progressive myoclonic, 1A", "epilepsy, progressive myoclonus 1", "myoclonic epilepsy of Unverricht and Lundborg", "myoclonus progressive epilepsy of Unverricht and Lundborg", "progressive myoclonic epilepsy", "progressive myoclonus epilepsy Baltic myoclonic epilepsy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Unverricht-Lundborg disease (ULD) is a rare progressive myoclonic epilepsy disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time." }, "child_count": 0, "reference_id": "MONDO:0009698" }, { "id": 12440, "label": "neuronal intranuclear inclusion disease", "isLeaf": true, "isRoot": false, "parents": [ 7073, 16360, 21292 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081294", "GARD:0003971", "MEDGEN:355075", "MESH:C537395", "NCIT:C122655", "OMIM:603472", "Orphanet:2289", "SCTID:715437003", "UMLS:C1863843", "icd11.foundation:693937860" ], "synonyms": [ "neuronal intranuclear inclusion disease", "Niid", "neuronal intranuclear hyaline inclusion disease" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Neuronal intranuclear inclusion disease (NIID) is a very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss." }, "child_count": 0, "reference_id": "MONDO:0011327" }, { "id": 12589, "label": "Huntington disease-like 3", "isLeaf": true, "isRoot": false, "parents": [ 7073, 16361 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016986", "MEDGEN:347622", "MESH:C565747", "OMIM:604802", "Orphanet:157946", "UMLS:C1858114" ], "synonyms": [ "HDL3", "Huntington disease-like 3", "Huntington disease-like type 3", "Huntington disease-like neurodegenerative disorder, autosomal recessive" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Huntington disease-like 3 is a rare Huntington disease-like syndrome characterized by childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy." }, "child_count": 0, "reference_id": "MONDO:0011487" }, { "id": 13640, "label": "brain-lung-thyroid syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7073, 24245, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012163", "MEDGEN:369694", "MESH:C567034", "OMIM:610978", "Orphanet:209905", "SCTID:719098007", "UMLS:C1970269", "icd11.foundation:809856670" ], "synonyms": [ "brain-lung-thyroid syndrome", "choreoathetosis, hypothyroidism, and neonatal respiratory distress", "choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome", "BLT syndrome", "CAHTP", "choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction", "choreoathetosis-hypothyroidism-neonatal respiratory distress" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC)." }, "child_count": 0, "reference_id": "MONDO:0012593" }, { "id": 14991, "label": "myoclonus, familial", "isLeaf": false, "isRoot": false, "parents": [ 7073, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017444", "OMIMPS:614937", "Orphanet:319189", "SCTID:763770005" ], "synonyms": [ "familial cortical myoclonus", "familial myoclonus", "myoclonus, familial cortical", "FCM" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most of cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent." }, "child_count": 4, "reference_id": "MONDO:0013981" }, { "id": 15304, "label": "proximal myopathy with extrapyramidal signs", "isLeaf": true, "isRoot": false, "parents": [ 7023, 7073, 24270, 24618 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111335", "GARD:0012978", "MEDGEN:816615", "OMIM:615673", "Orphanet:401768", "UMLS:C3810285" ], "synonyms": [ "MPXPS", "myopathy with extrapyramidal signs" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy." }, "child_count": 0, "reference_id": "MONDO:0014300" }, { "id": 15520, "label": "progressive myoclonic epilepsy type 7", "isLeaf": true, "isRoot": false, "parents": [ 7073, 19726 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111447", "GARD:0017715", "MEDGEN:863857", "NCIT:C142804", "OMIM:616187", "Orphanet:435438", "UMLS:C4015420" ], "synonyms": [ "EPM7", "KCNC1 progressive myoclonic epilepsy", "MEAK", "PME type 7", "epilepsy, progressive myoclonic type 7", "meak", "myoclonus epilepsy and ataxia due to potassium channel mutation", "progressive myoclonic epilepsy caused by mutation in KCNC1", "progressive myoclonic epilepsy due to KV3.1 deficiency", "progressive myoclonus epilepsy type 7", "epilepsy, progressive myoclonic 7" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCNC1 gene." }, "child_count": 0, "reference_id": "MONDO:0014521" }, { "id": 15557, "label": "progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7073, 19084, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081212", "GARD:0017798", "MEDGEN:895952", "OMIM:616269", "Orphanet:457212", "UMLS:C4225395" ], "synonyms": [ "intellectual disability, autosomal recessive type 48", "mental retardation, autosomal recessive type 48", "MRT48", "intellectual disability, autosomal recessive 48", "mental retardation, autosomal recessive 48" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014559" }, { "id": 16033, "label": "progressive non-fluent aphasia", "isLeaf": false, "isRoot": false, "parents": [ 7073, 12923 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081390", "GARD:0010793", "MEDGEN:148373", "MESH:D057178", "MedDRA:10029542", "NCIT:C85025", "Orphanet:100070", "SCTID:716281000", "UMLS:C0751706" ], "synonyms": [ "Agramatic variant of PPA", "Agramatic variant of primary progressive aphasia", "Primary Progressive Nonfluent aphasia", "non-fluent variant PPA", "non-fluent primary progressive aphasia" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved." }, "child_count": 2, "reference_id": "MONDO:0015059" }, { "id": 16134, "label": "opsoclonus-myoclonus syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7073, 18348 ], "type_id": 0, "properties": { "xrefs": [ "EFO:1001383", "GARD:0010009", "ICD9:379.59", "MEDGEN:97955", "MESH:D053578", "MedDRA:10053854", "NCIT:C4686", "NORD:1527", "Orphanet:1183", "SCTID:230350000", "UMLS:C0393626" ], "synonyms": [ "Ataxo-opso-myoclonus syndrome", "Kinsbourne syndrome", "OMS", "Opsoclonus-Myoclonus-Ataxia Syndrome", "POMA syndrome", "dancing eye syndrome", "dancing eye-dancing feet syndrome", "oma syndrome", "opsoclonus myoclonus syndrome", "opsoclonus-myoclonus-ataxia syndrome", "paraneoplastic opsoclonus-myoclonus", "paraneoplastic opsoclonus-myoclonus-ataxia syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Opsoclonus myoclonus syndrome (OMS) is a rare neuroinflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia, and behavioral and sleep disorders." }, "child_count": 0, "reference_id": "MONDO:0015247" }, { "id": 16905, "label": "isolated facial myokymia", "isLeaf": true, "isRoot": false, "parents": [ 4235, 7073 ], "type_id": 0, "properties": { "xrefs": [ "ICD10CM:G51.4", "MEDGEN:78741", "Orphanet:221106", "UMLS:C0270871" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A condition that consists of spontaneous, gentle, constant, rippling contractions that spread through the affected striated muscle." }, "child_count": 0, "reference_id": "MONDO:0016373" }, { "id": 17041, "label": "primary orthostatic tremor", "isLeaf": true, "isRoot": false, "parents": [ 7073 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0008563", "MEDGEN:164206", "MESH:C536418", "NORD:1612", "Orphanet:238606", "SCTID:715902009", "UMLS:C0878578" ], "synonyms": [ "POT", "pot", "OT", "orthostatic tremor, primary", "shaky leg syndrome" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Primary orthostatic tremor (POT), or ``shaky legs syndrome'', is a rare movement disorder characterized by fast, task-specific tremor, affecting the legs and trunk while standing." }, "child_count": 0, "reference_id": "MONDO:0016546" }, { "id": 17053, "label": "familial congenital mirror movements", "isLeaf": false, "isRoot": false, "parents": [ 4427, 7073, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111153", "GARD:0012551", "MEDGEN:473166", "OMIMPS:157600", "Orphanet:238722", "SCTID:229247004", "UMLS:C0454455", "icd11.foundation:1966778637" ], "synonyms": [ "familial congenital controlateral synkinesia", "familial congenital mirror movements", "hereditary congenital controlateral synkinesia", "hereditary congenital mirror movements", "isolated congenital controlateral synkinesia", "isolated congenital mirror movements", "CMM", "bimanual synkinesis", "congenital mirror movement disorder", "congenital mirror movements" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Congenital mirror movement disorder is a condition in which intentional movements of one side of the body are mirrored by involuntary movements of the other side. For example, when an affected individual makes a fist with the right hand, the left hand makes a similar movement. The mirror movements in this disorder primarily involve the upper limbs, especially the hands and fingers. This pattern of movements is present from infancy or early childhood and usually persists throughout life, without other associated signs and symptoms. Intelligence and lifespan are not affected." }, "child_count": 12, "reference_id": "MONDO:0016558" }, { "id": 17399, "label": "neuroacanthocytosis", "isLeaf": false, "isRoot": false, "parents": [ 7073, 16361 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050765", "GARD:0010902", "MESH:D054546", "NANDO:1200013", "NCIT:C84926", "NORD:1501", "Orphanet:263440", "icd11.foundation:1012724153" ], "synonyms": [ "neuroacanthocytosis syndrome" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia." }, "child_count": 4, "reference_id": "MONDO:0016987" }, { "id": 17505, "label": "behavioral variant of frontotemporal dementia", "isLeaf": false, "isRoot": false, "parents": [ 7073, 17600 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0007392", "MEDGEN:860225", "NANDO:1200549", "Orphanet:275864", "SCTID:716994006", "UMLS:C4011788" ], "synonyms": [ "bv-FTD" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy." }, "child_count": 6, "reference_id": "MONDO:0017160" }, { "id": 17506, "label": "frontotemporal dementia with motor neuron disease", "isLeaf": false, "isRoot": false, "parents": [ 7073, 16360, 21292 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017273", "MEDGEN:854771", "MESH:C566288", "OMIMPS:105550", "Orphanet:275872", "UMLS:C3888102", "icd11.foundation:1171850356" ], "synonyms": [ "FTD-ALS", "FTD-MND", "FTDALS", "frontotemporal dementia with ALS", "frontotemporal dementia with amyotrophic lateral sclerosis" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis). The disease is progressive, with death occurring 2-5 years after onset." }, "child_count": 21, "reference_id": "MONDO:0017161" }, { "id": 17915, "label": "hyperekplexia", "isLeaf": false, "isRoot": false, "parents": [ 7073 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021281", "MEDGEN:488800", "MESH:D000071017", "Orphanet:306773", "UMLS:C0234166" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neurologic disorder classically characterized by pronounced startle responses to tactile or acoustic stimuli and hypertonia" }, "child_count": 2, "reference_id": "MONDO:0017658" }, { "id": 18366, "label": "intellectual disability-hyperkinetic movement-truncal ataxia syndrome", "isLeaf": false, "isRoot": false, "parents": [ 7073 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021579", "MEDGEN:1683856", "Orphanet:369847", "UMLS:C5192595" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 1, "reference_id": "MONDO:0018243" }, { "id": 18404, "label": "neurodegeneration with brain iron accumulation", "isLeaf": false, "isRoot": false, "parents": [ 4393, 4397, 7073, 16360, 18954, 21292 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110734", "GARD:0011899", "MEDGEN:444156", "MESH:C538421", "NANDO:2100241", "OMIMPS:234200", "Orphanet:385", "UMLS:C2931845", "icd11.foundation:440483530" ], "synonyms": [ "NBIA", "neurodegeneration with brain iron accumulation" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system." }, "child_count": 84, "reference_id": "MONDO:0018307" }, { "id": 18474, "label": "Huntington disease-like syndrome due to C9ORF72 expansions", "isLeaf": true, "isRoot": false, "parents": [ 7073, 16361 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021702", "MEDGEN:1676144", "Orphanet:401901", "UMLS:C5190586" ], "synonyms": [ "C9ORF72-related Huntington disease phenocopy", "C9ORF72-related Huntington disease-like syndrome", "Huntington disease phenocopy due to C9ORF72 expansions" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0018425" }, { "id": 18682, "label": "variably protease-sensitive prionopathy", "isLeaf": true, "isRoot": false, "parents": [ 7073, 18850 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021894", "MEDGEN:929196", "Orphanet:454742", "SCTID:721165001", "UMLS:C4303527", "icd11.foundation:172957869" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0018692" }, { "id": 18685, "label": "corticobasal syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7073, 16360, 21292 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081392", "GARD:0013168", "MEDGEN:1801322", "Orphanet:454887", "UMLS:C5575119" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Corticobasal syndrome (CBS) is a rare neurodegenerative disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction." }, "child_count": 0, "reference_id": "MONDO:0018696" }, { "id": 18935, "label": "sensorineural hearing loss-early graying-essential tremor syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7073 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018869", "MEDGEN:1389497", "Orphanet:66633", "UMLS:C4510044" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Sensorineural hearing loss-early graying-essential tremor syndrome is characterized by the combination of sensorineural hearing loss, early graying of scalp hair and adult onset essential tremor." }, "child_count": 0, "reference_id": "MONDO:0019022" }, { "id": 18949, "label": "progressive supranuclear palsy", "isLeaf": false, "isRoot": false, "parents": [ 4370, 7073, 19772, 21292 ], "type_id": 0, "properties": { "xrefs": [ "DOID:678", "GARD:0007471", "ICD10CM:G23.1", "ICD9:333.0", "MEDGEN:21026", "MESH:D013494", "MedDRA:10036813", "NANDO:1200009", "NCIT:C85028", "NORD:1619", "OMIMPS:601104", "Orphanet:683", "SCTID:192976002", "SCTID:28978003", "UMLS:C0038868", "icd11.foundation:1493396558" ], "synonyms": [ "PSP syndrome", "Steele-Richardson-Olszewski disease", "Steele-Richardson-Olszewski syndrome", "progressive supranuclear ophthalmoplegia", "familial progressive supranuclear palsy (type)", "supranuclear palsy, progressive" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." }, "child_count": 16, "reference_id": "MONDO:0019037" }, { "id": 18990, "label": "Sandifer syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7073 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009684", "MEDGEN:90922", "MESH:C537234", "MedDRA:10066142", "NCIT:C113397", "Orphanet:71272", "SCTID:230314007", "UMLS:C0338465" ], "synonyms": [ "Sandifer's syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Sandifer syndrome is a paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia." }, "child_count": 0, "reference_id": "MONDO:0019104" }, { "id": 18998, "label": "psychogenic movement disorders", "isLeaf": true, "isRoot": false, "parents": [ 7073 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018914", "MEDGEN:155722", "MedDRA:10072376", "Orphanet:71519", "UMLS:C0752208", "icd11.foundation:1905355308" ], "synonyms": [ "psychogenic dystonia" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Psychogenic movement disorders (PMD) are movement disorders that cannot be attributed to any known structural or neurochemical diseases, but represent the manifestation of an underlying psychiatric illness or malingering. Most cases of PMD fall in the psychiatric diagnostic category of conversion disorders of the motor subtype." }, "child_count": 0, "reference_id": "MONDO:0019114" }, { "id": 19308, "label": "epilepsy with myoclonic absences", "isLeaf": true, "isRoot": false, "parents": [ 7073, 25082 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019087", "MEDGEN:140741", "NANDO:1200589", "Orphanet:86911", "SCTID:230422001", "UMLS:C0393703", "icd11.foundation:274380122" ], "synonyms": [ "EMA" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare childhood-onset epilepsy characterized by sudden onset, short lasting absence associated with rhythmical myoclonia of head and shoulders." }, "child_count": 0, "reference_id": "MONDO:0019487" }, { "id": 22752, "label": "infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7073, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017962", "MEDGEN:1648431", "OMIM:618218", "Orphanet:522077", "UMLS:C4748715" ], "synonyms": [ "Baker-Gordon syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0033864" }, { "id": 23334, "label": "childhood-onset benign chorea with striatal involvement", "isLeaf": true, "isRoot": false, "parents": [ 7073, 16361 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017906", "MEDGEN:1798886", "Orphanet:494541", "UMLS:C5567463" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0044332" }, { "id": 23396, "label": "childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder", "isLeaf": true, "isRoot": false, "parents": [ 4427, 7073, 16087, 19709, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070474", "GARD:0013658", "MEDGEN:1626007", "OMIM:617672", "Orphanet:500180", "UMLS:C4540086" ], "synonyms": [ "UBTF-related disorder", "CONDBA", "neurodegeneration, childhood-onset, with brain atrophy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0044701" }, { "id": 24281, "label": "PRRT2-associated paroxysmal movement disorder", "isLeaf": false, "isRoot": false, "parents": [ 7073, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028000" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A group of rare movement and seizure disorders caused by changes (disease-causing variants or mutations) in the PRRT2 gene. They include a spectrum of specific disorders including paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy (BFIE), paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) and hemiplegic migraine (HM). In addition, PRRT2 pathogenic variants have been identified in other childhood-onset movement disorders and different types of seizure conditions, such as paroxysmal torticollis, episodic ataxia and familial paroxysmal non-kinesigenic dyskinesia. It’s important to note that these disorders can also have different genetic causes." }, "child_count": 6, "reference_id": "MONDO:0100556" }, { "id": 24512, "label": "SLC6A3-related dopamine transporter deficiency syndrome", "isLeaf": false, "isRoot": false, "parents": [ 7073, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070487", "GARD:0026363" ], "synonyms": [ "DTDS", "Dopamine transporter deficiency syndrome" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A complex movement disorder characterized by tremor, rigidity, bradykinesia, chorea, reduced facial expression, and Parkinsonism-dystonia. This disease is caused by loss of function variants in the SLC6A3 gene, which impair the dopamine transporter protein. The onset of this disease ranges from infancy to adulthood." }, "child_count": 4, "reference_id": "MONDO:0700117" }, { "id": 24783, "label": "dyskinesia with orofacial involvement, autosomal dominant", "isLeaf": true, "isRoot": false, "parents": [ 7073, 22222, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012722", "MEDGEN:338280", "MESH:C564676", "OMIM:606703", "Orphanet:324588", "SCTID:763352005", "UMLS:C1847627" ], "synonyms": [ "FDFM", "dyskinesia, familial, with facial myokymia", "ADCY5-related dyskinesia" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness." }, "child_count": 0, "reference_id": "MONDO:0800028" }, { "id": 29328, "label": "complex movement disorder with or without neurodevelopmental features", "isLeaf": false, "isRoot": false, "parents": [ 7073 ], "type_id": 0, "properties": { "synonyms": [ "complex movement disorder with or without neurodevelopmental features" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A movement disorder characterized by having one or more different types of movement disorders, such as abnormal muscle tone, abnormal degree of movement, dystonia or torsion, which may occur with or without neurodevelopmental features, such as developmental delay or intellectual disability." }, "child_count": 1, "reference_id": "MONDO:1060159" } ], "roots": [ { "id": 6799, "label": "nervous system disorder" } ] }