{ "id": 21292, "label": "inherited neurodegenerative disorder", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0024237", "properties": { "xrefs": [ "GARD:0020280", "MEDGEN:1825988", "MESH:D020271", "NCIT:C97073", "Orphanet:183500", "UMLS:C5680568" ], "synonyms": [ "genetic neurodegenerative disease", "hereditary neurodegenerative disease", "hereditary neurodegenerative disorder" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An inherited disorder characterized by progressive degeneration and atrophy of the nervous system." }, "isLeaf": false, "isRoot": false, "child_count": 82, "parents": [ { "id": 7208, "label": "neurodegenerative disease", "isLeaf": false, "isRoot": false, "parents": [ 4657 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1289", "EFO:0005772", "ICD9:349.89", "MEDGEN:17999", "MESH:D019636", "NCIT:C4802", "SCTID:80690008", "UMLS:C0027746" ], "synonyms": [ "degenerative disease", "brain degeneration", "central nervous system degenerative disorder", "central nervous system neurodegenerative disorder", "degenerative disorder of central nervous system", "cerebral degeneration disease" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." }, "child_count": 22, "reference_id": "MONDO:0005559" }, { "id": 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" } ], "children": [ { "id": 2754, "label": "Huntington disease and related disorders", "isLeaf": false, "isRoot": false, "parents": [ 21292 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022721" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A grouping for Huntington disease and similar diseases." }, "child_count": 2, "reference_id": "MONDO:0000167" }, { "id": 3178, "label": "agenesis of the corpus callosum with peripheral neuropathy", "isLeaf": true, "isRoot": false, "parents": [ 21292 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060600", "DOID:0090003", "GARD:0001537", "MEDGEN:162893", "MESH:C536446", "OMIM:218000", "Orphanet:1496", "SCTID:702439002", "UMLS:C0795950", "icd11.foundation:1443432032" ], "synonyms": [ "Andermann syndrome", "Charlevoix disease", "agenesis of the corpus callosum with peripheral neuropathy", "corpus callosum agenesis-neuronopathy syndrome", "hereditary motor and sensory neuropathy with agenesis of the corpus callosum", "peripheral neuropathy associated with agenesis of the corpus callosum", "ACCPN", "HMSN/ACC", "agenesis of corpus callosum with neuronopathy", "agenesis of corpus callosum with peripheral neuropathy", "agenesis of corpus callosum with polyneuropathy", "corpus callosum agenesis neuronopathy", "corpus callosum, agenesis of, with neuronopathy", "polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Corpus callosum agenesis-neuropathy is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and \"autistic-like\" features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait." }, "child_count": 0, "reference_id": "MONDO:0000902" }, { "id": 5100, "label": "striatonigral degeneration", "isLeaf": false, "isRoot": false, "parents": [ 9146, 18954, 21292 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4751", "GARD:0023374", "ICD10CM:G23.2", "ICD9:333.0", "MEDGEN:124366", "MESH:D020955", "NCIT:C125695", "OMIMPS:271930", "SCTID:29618004", "UMLS:C0270733", "icd11.foundation:195535779" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A progressive neurodegenerative disorder caused by a disruption in the connection between the striatum and the substantia nigra. It is a type of multiple system atrophy (MSA). Signs and symptoms include rigidity, instability, impaired speech, and slow movements." }, "child_count": 9, "reference_id": "MONDO:0003122" }, { "id": 6637, "label": "angioid streaks of choroid", "isLeaf": true, "isRoot": false, "parents": [ 6640, 12866, 21292 ], "type_id": 0, "properties": { "xrefs": [ "DOID:979", "GARD:0024128", "ICD9:363.43", "MEDGEN:507444", "SCTID:86103006", "UMLS:C0002983" ], "synonyms": [ "angioid streaks of optic choroid", "optic choroid angioid streaks" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A angioid streaks that involves the optic choroid." }, "child_count": 0, "reference_id": "MONDO:0004882" }, { "id": 8517, "label": "amyotrophic lateral sclerosis-parkinsonism-dementia complex", "isLeaf": true, "isRoot": false, "parents": [ 21292 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111246", "GARD:0009239", "MEDGEN:107775", "OMIM:105500", "Orphanet:90020", "UMLS:C0543859" ], "synonyms": [ "Guam disease", "Lytico-Bodig disease", "Lytigo-Bodig disease", "amyotrophic lateral sclerosis-Parkinsonism/dementia Complex type 1", "ALS-pDC", "amyotrophic lateral sclerosis, Parkinsonism/dementia complex of Guam", "amyotrophic lateral sclerosis-PARKINSONISM/dementia complex 1", "amyotrophic lateral sclerosis-Parkinsonism/dementia Complex of Guam", "amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0007104" }, { "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": 10031, "label": "mitochondrial DNA depletion syndrome 4a", "isLeaf": true, "isRoot": false, "parents": [ 4370, 19748, 21292, 24237 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080122", "DOID:1442", "GARD:0005783", "ICD10CM:G31.81", "ICD9:330.8", "MEDGEN:60012", "MedDRA:10062943", "NCIT:C35257", "NORD:752", "OMIM:203700", "Orphanet:726", "SCTID:20415001", "UMLS:C0205710" ], "synonyms": [ "AHD", "AHS", "Alper syndrome", "Alper's disease", "Alper's syndrome", "Alpers Disease", "Alpers Huttenlocher disease", "Alpers Huttenlocher syndrome", "Alpers disease", "Alpers progressive infantile poliodystrophy", "Alpers progressive sclerosing poliodystrophy", "Alpers syndrome", "Alpers-Huttenlocher", "Alpers-Huttenlocher syndrome", "mitochondrial DNA depletion syndrome 4A", "mitochondrial DNA depletion syndrome type 4a", "progressive neuronal degeneration of childhood with liver disease", "Alpers diffuse Degeneration of cerebral Gray matter with hepatic cirrhosis", "Alpers diffuse Degeneration of cerebral Grey matter with hepatic cirrhosis", "MTDPS4A", "PNDC", "Poliodystrophia cerebri progressiva", "diffuse cerebral degeneration in infancy", "infantile poliodystrophy", "mitochondrial DNA depletion syndrome 4A (Alpers type)", "neuronal Degeneration of childhood with liver disease, progressive", "progressive cerebral poliodystrophy" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure." }, "child_count": 0, "reference_id": "MONDO:0008758" }, { "id": 10197, "label": "cerebellar ataxia-hypogonadism syndrome", "isLeaf": false, "isRoot": false, "parents": [ 16526, 21292 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111587", "GARD:0003314", "MEDGEN:349137", "MESH:C565870", "OMIM:212840", "Orphanet:1173", "UMLS:C1859305" ], "synonyms": [ "Gordon-Holmes syndrome", "luteinizing hormone-releasing hormone deficiency with ataxia", "GDHS", "Gordon Holmes syndrome", "LHRH deficiency and ataxia", "cerebellar ataxia - hypogonadism", "cerebellar ataxia and hypogonadotropic hypogonadism", "luteinizing hormone releasing hormone, deficiency of with ataxia", "luteinizing hormone-releasing hormone, deficiency of, with ataxia" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome." }, "child_count": 2, "reference_id": "MONDO:0008935" }, { "id": 10205, "label": "myoclonic cerebellar dyssynergia", "isLeaf": true, "isRoot": false, "parents": [ 2729, 21292 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12707", "EFO:1001053", "GARD:0009256", "MEDGEN:483579", "MESH:D002527", "OMIM:159700", "OMIM:213400", "SCTID:73495003", "UMLS:C3489626" ], "synonyms": [ "cerebelloparenchymal disorder type 5", "dyssynergia cerebellaris myoclonica", "myoclonus and ataxia", "CPD5", "Ramsay Hunt cerebellar syndrome", "Ramsay Hunt syndrome", "Ramsay Hunt syndrome type 1", "Ramsay Hunt syndrome type 1 (formerly)", "Spinodentate atrophy", "cerebelloparenchymal disorder 5", "cerebelloparenchymal disorder V", "dentate cerebellar ataxia", "dentatorubral atrophy", "dyssynergia cerebellaris myoclonica of Hunt", "dyssynergia cerebellaris progressiva", "primary dentatum atrophy", "progressive myoclonus ataxia" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A condition marked by progressive cerebellar ataxia combined with myoclonus usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal seizures, spasticity, and dyskinesias. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the cerebellum are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)" }, "child_count": 0, "reference_id": "MONDO:0008945" }, { "id": 10210, "label": "cerebral sclerosis similar to Pelizaeus-Merzbacher disease", "isLeaf": true, "isRoot": false, "parents": [ 21292 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0007348", "MEDGEN:395210", "MESH:C536318", "OMIM:213900", "UMLS:C1859258" ], "synonyms": [ "cerebral sclerosis similar to Pelizaeus-Merzbacher disease" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0008950" }, { "id": 10221, "label": "Chediak-Higashi syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16076, 16355, 17626, 17972, 19748, 21292 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2935", "GARD:0006035", "ICD10CM:E70.330", "MEDGEN:3347", "MESH:D002609", "MedDRA:10008415", "NANDO:1200350", "NANDO:1200639", "NANDO:2200724", "NCIT:C2941", "NORD:921", "OMIM:214500", "Orphanet:167", "SCTID:111396008", "UMLS:C0007965" ], "synonyms": [ "CHS", "ChC)diak-Higashi disease", "ChC)diak-Higashi-Steinbrink syndrome", "Chediak Higashi Syndrome", "Chediak Higashi syndrome", "Chediak-Higashi syndrome", "Chédiak-Higashi disease", "Chédiak-Higashi syndrome", "Chédiak-Higashi-Steinbrink syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "ChC)diak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described." }, "child_count": 0, "reference_id": "MONDO:0008963" }, { "id": 10806, "label": "encephalopathy due to beta-mercaptolactate-cysteine disulfiduria", "isLeaf": true, "isRoot": false, "parents": [ 21292 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000654", "MEDGEN:208661", "MESH:C563085", "OMIM:249650", "Orphanet:1035", "UMLS:C0796055" ], "synonyms": [ "3-mercaptopyruvate sulfurtransferase deficiency", "Ampola syndrome", "Beta-mercaptolactate cysteine disulfiduria", "MCDU", "disulfiduria, mixed", "mercaptolactate-cysteine disulfiduria" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0009585" }, { "id": 11044, "label": "PEHO syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 21292 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080539", "GARD:0004264", "MEDGEN:342404", "MESH:C536317", "OMIM:260565", "Orphanet:2836", "UMLS:C1850055", "icd11.foundation:976613527" ], "synonyms": [ "peho syndrome", "progressive encephalopathy with edema, hypsarrhythmia and optic atrophy", "progressive encephalopathy-optic atrophy syndrome", "infantile Cerebellooptic atrophy", "peho", "peho-like syndrome", "progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies." }, "child_count": 0, "reference_id": "MONDO:0009841" }, { "id": 11732, "label": "deafness dystonia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 21292 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050757", "GARD:0008331", "ICD9:759.89", "MEDGEN:162903", "MESH:C535808", "NORD:280622", "OMIM:304700", "Orphanet:52368", "SCTID:702423009", "UMLS:C0796074" ], "synonyms": [ "DDON syndrome", "Deafness-Dystonia-Optic Neuronopathy Syndrome", "Mohr-Tranebjaerg syndrome", "Mohr-Tranebjaerg syndrome, X-linked recessive", "deafness dystonia optic neuronopathy syndrome (DDON)", "deafness dystonia syndrome", "deafness-dystonia-optic neuronopathy syndrome", "DDP", "MOHR-Tranebjaerg syndrome", "MTS", "deafness - dystonia - optic neuronopathy syndrome", "deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency", "deafness-Dystonia-optic atrophy syndrome", "deafness-dystonia-optic neuronopathy (DDON) syndrome", "dystonia-deafness syndrome" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." }, "child_count": 0, "reference_id": "MONDO:0010578" }, { "id": 11875, "label": "Kennedy disease", "isLeaf": true, "isRoot": false, "parents": [ 21292 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060161", "GARD:0006818", "MEDGEN:333282", "MESH:D055534", "MedDRA:10068600", "NANDO:1200001", "NCIT:C85233", "OMIM:313200", "Orphanet:481", "UMLS:C1839259" ], "synonyms": [ "Kennedy disease", "Kennedy's disease", "SBMA", "SMAX1", "X-linked BSMA", "X-linked bulbospinal amyotrophy", "X-linked bulbospinal muscular atrophy", "X-linked spinal and bulbar muscular atrophy", "spinal and bulbar muscular atrophy of Kennedy, X-linked recessive", "spinal and bulbar muscular atrophy, X-linked type 1", "Kennedy spinal and bulbar muscular atrophy", "bulbospinal muscular atrophy, X-linked", "bulbospinal neuronopathy, X-linked recessive", "spinal and bulbar muscular atrophy", "spinal and bulbar muscular atrophy, X-linked 1" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting." }, "child_count": 0, "reference_id": "MONDO:0010735" }, { "id": 11944, "label": "fatal familial insomnia", "isLeaf": true, "isRoot": false, "parents": [ 7097, 14626, 21292 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050433", "GARD:0006429", "ICD10CM:A81.83", "ICD9:046.72", "MEDGEN:104768", "MESH:D034062", "MedDRA:10072077", "NANDO:1200191", "NCIT:C84711", "NORD:1920", "OMIM:600072", "Orphanet:466", "SCTID:83157008", "UMLS:C0206042", "icd11.foundation:669154658" ], "synonyms": [ "fatal familial insomnia", "FFI", "Insomnia familial fatal", "Insomnia, fatal familial", "familial fatal insomnia", "fatal familial INSOMNIA" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Fatal familial insomnia (FFI) is a very rare form of prion disease characterized by subacute onset of insomnia showing as a reduced overall sleep time, autonomic dysfunction, and motor disturbances." }, "child_count": 0, "reference_id": "MONDO:0010808" }, { "id": 12415, "label": "Huntington disease-like 1", "isLeaf": true, "isRoot": false, "parents": [ 7097, 21292 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0090103", "GARD:0016985", "MEDGEN:355137", "MESH:C566398", "OMIM:603218", "Orphanet:157941", "UMLS:C1864112" ], "synonyms": [ "HDL1", "HLN1", "Huntington disease-like 1", "Huntington disease-like type 1", "Huntington-like neurodegenerative disorder 1", "PRNP neurodegenerative disease with chorea", "early-onset prion disease with prominent psychiatric features", "neurodegenerative disease with chorea caused by mutation in PRNP", "Huntington's disease-like 1", "Huntington-like neurodegenerative disorder, autosomal dominant", "prion disease, early-onset, with prominent psychiatric features" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any neurodegenerative disease with chorea in which the cause of the disease is a mutation in the PRNP gene." }, "child_count": 0, "reference_id": "MONDO:0011299" }, { "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": 12561, "label": "ataxia-telangiectasia-like disorder", "isLeaf": false, "isRoot": false, "parents": [ 21292 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0024799", "ICD9:334.8", "MEDGEN:348929", "MESH:C565779", "OMIMPS:604391", "SCTID:700058006", "UMLS:C1858391", "icd11.foundation:242329289" ], "synonyms": [ "ATLD", "ataxia - telangiectasia-like disorder", "ataxia-telangiectasia-like disorder type 1", "ATLD1", "ataxia-telangiectasia-like disorder 1" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal recessive condition caused by mutation(s) in the MRE11A gene, encoding double-strand break repair protein MRE11. It is characterized by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia." }, "child_count": 3, "reference_id": "MONDO:0011457" }, { "id": 12653, "label": "radiation sensitivity/chromosome instability syndrome, autosomal dominant", "isLeaf": true, "isRoot": false, "parents": [ 21292 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0024807", "MEDGEN:343082", "MESH:C565326", "OMIM:605463", "UMLS:C1854244" ], "synonyms": [ "radiation sensitivity/chromosome instability syndrome, autosomal dominant" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0011557" }, { "id": 12761, "label": "Huntington disease-like 2", "isLeaf": true, "isRoot": false, "parents": [ 21292 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0090104", "GARD:0016874", "MEDGEN:341120", "MESH:C564708", "OMIM:606438", "Orphanet:98934", "SCTID:721228006", "UMLS:C1847987" ], "synonyms": [ "HDL2", "Huntington disease-like 2", "Huntington disease-like type 2", "Huntington's disease-like 2" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes characterized by a triad of movement, psychiatric, and cognitive abnormalities." }, "child_count": 0, "reference_id": "MONDO:0011671" }, { "id": 13682, "label": "microphthalmia-brain atrophy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16704, 21292 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111812", "GARD:0009292", "MEDGEN:370809", "MESH:C566985", "OMIM:611222", "Orphanet:77299", "SCTID:720010009", "UMLS:C1970013" ], "synonyms": [ "MCOPS10", "MOBA syndrome", "syndromic microphthalmia type 10", "MOBA", "microphthalmia and brain atrophy", "microphthalmia syndromic 10", "microphthalmia, syndromic 10" ], "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": "Microphthalmia-brain atrophy (MOBA) syndrome is a rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter." }, "child_count": 0, "reference_id": "MONDO:0012638" }, { "id": 14148, "label": "neurodegenerative syndrome due to cerebral folate transport deficiency", "isLeaf": true, "isRoot": false, "parents": [ 7182, 17632, 21292 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050719", "GARD:0010594", "ICD9:266.2", "MEDGEN:442763", "MESH:C567791", "OMIM:613068", "Orphanet:217382", "SCTID:711403001", "UMLS:C2751584", "icd11.foundation:1158040363" ], "synonyms": [ "neurodegenerative syndrome due to cerebral folate transport deficiency", "cerebral folate deficiency syndrome", "cerebral folate transport deficiency", "neurodegeneration due to cerebral folate TRANSPORT deficiency" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0013110" }, { "id": 14612, "label": "hereditary sensory neuropathy-deafness-dementia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5338, 16360, 18346, 21292 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070158", "GARD:0011927", "MEDGEN:481515", "MESH:C580162", "NORD:1903", "OMIM:614116", "Orphanet:456318", "UMLS:C3279885" ], "synonyms": [ "HSAN1E", "HSN1E", "Hereditary Sensory and Autonomic Neuropathy Type 1E", "hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome", "DNMT1-related dementia, deafness, and sensory neuropathy", "HSN 1E", "HSNIE", "hereditary sensory and autonomic neuropathy type 1E", "hereditary sensory neuropathy type 1E", "hereditary sensory neuropathy with hearing loss and dementia", "neuropathy, hereditary sensory, type 1E", "neuropathy, hereditary sensory, type IE", "neuropathy, hereditary sensory, with hearing loss and dementia" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has material basis in heterozygous mutation in the DNMT1 gene on chromosome 19p13." }, "child_count": 0, "reference_id": "MONDO:0013584" }, { "id": 14819, "label": "infantile cerebellar-retinal degeneration", "isLeaf": true, "isRoot": false, "parents": [ 17230, 19000, 21292 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050883", "GARD:0013264", "MEDGEN:482822", "OMIM:614559", "Orphanet:313850", "UMLS:C3281192" ], "synonyms": [ "infantile cerebellar-retinal degeneration", "ICRD", "infantile cerebellar retinal degeneration" ], "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": "Infantile cerebellar retinal degeneration (ICRD) is a genetic condition present from birth (congenital) that involves the brain and eyes. Individuals with this condition usually develop symptoms around six months of age including developmental delays, low muscle tone (hypotonia), and seizures. Other symptoms may include head bobbing, abnormal muscle twitching and movement, and loss of brain cells in the main part of the brain called the cerebellum. Eye findings in individuals with this condition may include retinal degeneration (weakening of the layer of tissue in the back of the eye that senses light), strabismus (crossed eyes), and nystagmus (fast, uncontrollable movements of the eyes). ICRD is caused by mutations in the ACO2 gene and is inherited in an autosomal recessive manner. While there is still no cure for this condition, treatment options will depend on the type and severity of symptoms." }, "child_count": 0, "reference_id": "MONDO:0013802" }, { "id": 15046, "label": "Alzheimer disease 17", "isLeaf": true, "isRoot": false, "parents": [ 6717, 16360, 21292 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110049", "GARD:0027854", "MEDGEN:767366", "OMIM:615080", "UMLS:C3554452" ], "synonyms": [ "AD17", "Alzheimer disease 17", "Alzheimer's disease 17", "Alzheimer's disease type 17", "Alzheimer disease 17, late-onset" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An Alzheimer's disease that is characterized by an associated with mutations in the gene TREM2." }, "child_count": 0, "reference_id": "MONDO:0014036" }, { "id": 15183, "label": "hypotonia, infantile, with psychomotor retardation and characteristic facies", "isLeaf": false, "isRoot": false, "parents": [ 4427, 16087, 21292 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017609", "MEDGEN:1642314", "OMIMPS:615419", "Orphanet:371364", "UMLS:C4706556" ], "synonyms": [ "IHPRF", "IHPRF syndrome", "hypotonia, infantile, with psychomotor retardation and characteristic facies", "hypotonia-speech impairment-severe cognitive delay syndrome", "infantile hypotonia-psychomotor retardation-characteristic facies syndrome" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip)." }, "child_count": 9, "reference_id": "MONDO:0014176" }, { "id": 15270, "label": "Alzheimer disease 18", "isLeaf": true, "isRoot": false, "parents": [ 6717, 16360, 21292 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110050", "GARD:0024982", "MEDGEN:816371", "OMIM:615590", "UMLS:C3810041" ], "synonyms": [ "AD18", "ADAM10 Alzheimer disease", "Alzheimer disease 18", "Alzheimer disease caused by mutation in ADAM10", "Alzheimer disease type 18", "Alzheimer's disease 18", "Alzheimer's disease type 18", "Alzheimer disease 18, late-onset", "Alzheimer disease 18, susceptibility to" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any Alzheimer disease in which the cause of the disease is a mutation in the ADAM10 gene." }, "child_count": 0, "reference_id": "MONDO:0014265" }, { "id": 15337, "label": "diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 21292 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017672", "MEDGEN:862676", "OMIM:615760", "Orphanet:404437", "UMLS:C4014239" ], "synonyms": [ "diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome", "microcephaly, progressive, seizures, and cerebral and cerebellar atrophy", "MSCCA", "microcephaly, progressive, with seizures and cerebral and cerebellar atrophy" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014335" }, { "id": 15404, "label": "severe neurodegenerative syndrome with lipodystrophy", "isLeaf": true, "isRoot": false, "parents": [ 19731, 21292, 23939 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017552", "MEDGEN:863137", "OMIM:615924", "Orphanet:363400", "UMLS:C4014700" ], "synonyms": [ "severe neurodegenerative syndrome due to BSCL2 deficiency", "PELD", "encephalopathy, progressive, with or without lipodystrophy" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014402" }, { "id": 15712, "label": "developmental and epileptic encephalopathy, 35", "isLeaf": true, "isRoot": false, "parents": [ 19100, 21292, 23814 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080458", "GARD:0017806", "MEDGEN:904159", "OMIM:616647", "Orphanet:457375", "UMLS:C4225256" ], "synonyms": [ "DEE35", "EIEE35", "developmental and epileptic encephalopathy 35", "epileptic encephalopathy, early infantile, 35", "epileptic encephalopathy, early infantile, type 35" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014719" }, { "id": 15770, "label": "combined oxidative phosphorylation deficiency 29", "isLeaf": true, "isRoot": false, "parents": [ 3109, 7611, 21292 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111501", "GARD:0017863", "MEDGEN:1799030", "OMIM:616811", "Orphanet:478029", "UMLS:C5567607" ], "synonyms": [ "COXPD29", "TXN2 combined oxidative phosphorylation deficiency", "combined oxidative phosphorylation deficiency 29", "combined oxidative phosphorylation deficiency 29; COXPD29", "combined oxidative phosphorylation deficiency caused by mutation in TXN2", "combined oxidative phosphorylation deficiency type 29" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TXN2 gene." }, "child_count": 0, "reference_id": "MONDO:0014781" }, { "id": 15919, "label": "neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset", "isLeaf": true, "isRoot": false, "parents": [ 21292 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081364", "GARD:0027264", "MEDGEN:934660", "OMIM:617145", "UMLS:C4310693" ], "synonyms": [ "NADGP", "neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset", "neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset; NADGP" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014940" }, { "id": 15939, "label": "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy", "isLeaf": false, "isRoot": false, "parents": [ 21292, 23939 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0009158", "GARD:0025040", "OMIMPS:617186" ], "synonyms": [ "PEBEL", "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy", "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy; PEBEL", "encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy; PEBEL" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 4, "reference_id": "MONDO:0014960" }, { "id": 15979, "label": "dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities", "isLeaf": true, "isRoot": false, "parents": [ 18473, 21292, 23452 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081419", "GARD:0013488", "MEDGEN:934601", "OMIM:617282", "Orphanet:508093", "UMLS:C4310634" ], "synonyms": [ "DYTOABG", "dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities", "dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities; DYTOABG", "dystonia 29, childhood-onset" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0015003" }, { "id": 16851, "label": "neuronal ceroid lipofuscinosis", "isLeaf": false, "isRoot": false, "parents": [ 19108, 21292 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14503", "GARD:0010739", "ICD10CM:E75.4", "MEDGEN:10326", "NANDO:1200150", "NANDO:2200573", "NCIT:C61257", "OMIMPS:256730", "Orphanet:216", "SCTID:42012007", "UMLS:C0027877", "icd11.foundation:1568332253" ], "synonyms": [ "NCL", "ceroid lipofuscinoses", "neuronal ceroid lipofuscinosis" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." }, "child_count": 28, "reference_id": "MONDO:0016295" }, { "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": 17600, "label": "frontotemporal dementia", "isLeaf": false, "isRoot": false, "parents": [ 16360, 21292 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9255", "GARD:0008436", "ICD10CM:G31.0", "MEDGEN:83266", "MESH:D057180", "MedDRA:10068968", "NANDO:1200548", "NCIT:C84719", "Orphanet:282", "UMLS:C0338451", "icd11.foundation:831337417" ], "synonyms": [ "FTD", "MSTD", "frontotemporal lobe dementia (FLDEM)" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy." }, "child_count": 8, "reference_id": "MONDO:0017276" }, { "id": 17953, "label": "GM2 gangliosidosis", "isLeaf": false, "isRoot": false, "parents": [ 17952, 21292 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3321", "GARD:0021323", "ICD10CM:E75.0", "MEDGEN:78656", "MESH:D020143", "NANDO:1200070", "NANDO:2200559", "Orphanet:309152", "SCTID:33316007", "UMLS:C0268274", "icd11.foundation:1513691830" ], "synonyms": [ "GM>2< gangliosidosis", "gangliosidosis GM2", "GM2-gangliosidosis, B, B1, AB variant" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS." }, "child_count": 6, "reference_id": "MONDO:0017720" }, { "id": 18282, "label": "attenuated Chédiak-Higashi syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19748, 21292 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021527", "MEDGEN:929691", "Orphanet:352723", "SCTID:720520009", "UMLS:C4304022" ], "synonyms": [ "attenuated Chediak-Higashi syndrome", "atypical Chediak-Higashi syndrome", "atypical Chédiak-Higashi syndrome" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Attenuated Chédiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS, a genetic disorder characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder." }, "child_count": 0, "reference_id": "MONDO:0018133" }, { "id": 18351, "label": "autosomal recessive cerebral atrophy", "isLeaf": true, "isRoot": false, "parents": [ 7611, 21292 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021560", "MEDGEN:1653890", "Orphanet:363969", "UMLS:C4755252" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0018218" }, { "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": 18412, "label": "fatal post-viral neurodegenerative disorder", "isLeaf": true, "isRoot": false, "parents": [ 21292 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021620", "MEDGEN:1657472", "Orphanet:391343", "UMLS:C4751597" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0018316" }, { "id": 18433, "label": "ferro-cerebro-cutaneous syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18954, 21292 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021637", "MEDGEN:1658844", "OMIM:301072", "Orphanet:397922", "UMLS:C4751570" ], "synonyms": [ "FCCS", "cerebro-cutaneous syndrome with iron overload" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Ferro-cerebro-cutaneous syndrome is a rare, genetic, metabolic liver disease characterized by progressive neurodegeneration, cutaneous abnormalities, including varying degrees of ichthyosis or seborrheic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations, including microdontia, widely spaced and pointed teeth with delayed eruption, and gingival overgrowth." }, "child_count": 0, "reference_id": "MONDO:0018346" }, { "id": 18515, "label": "PRKAR1B-related neurodegenerative dementia with intermediate filaments", "isLeaf": true, "isRoot": false, "parents": [ 16360, 21292 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021738", "MEDGEN:1654800", "Orphanet:412066", "UMLS:C4751505" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0018475" }, { "id": 18594, "label": "ITM2B amyloidosis", "isLeaf": false, "isRoot": false, "parents": [ 18631, 21292 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017741", "ICD9:277.39", "MEDGEN:82800", "Orphanet:439254", "SCTID:45639009", "UMLS:C0268393", "icd11.foundation:503091580" ], "synonyms": [ "ITM2B-related amyloidosis", "ITM2B-related cerebral amyloid angiopathy", "familial cerebral amyloid angiopathy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 4, "reference_id": "MONDO:0018591" }, { "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": 18690, "label": "infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome", "isLeaf": true, "isRoot": false, "parents": [ 21292 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021904", "MEDGEN:1814445", "Orphanet:457205", "UMLS:C5680002" ], "synonyms": [ "ANOAC", "axonal neuropathy-optic atrophy-cognitive deficit syndrome" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0018705" }, { "id": 18762, "label": "recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 21292 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081386", "GARD:0013423", "MEDGEN:1798947", "NORD:1944", "OMIM:616878", "Orphanet:480864", "UMLS:C5567524" ], "synonyms": [ "MECRCN", "TANGO2 Deficiency Disorder", "TANGO2 deficiency", "transport and golgi organisation protein 2 (TANGO2) deficiency", "transport and golgi organization protein 2 (TANGO2) deficiency" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy." }, "child_count": 0, "reference_id": "MONDO:0018820" }, { "id": 18827, "label": "posterior cortical atrophy", "isLeaf": true, "isRoot": false, "parents": [ 16360, 21292 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018846", "MEDGEN:909667", "Orphanet:54247", "SCTID:715574002", "UMLS:C4275079", "icd11.foundation:377572273" ], "synonyms": [ "Benson syndrome", "PCA", "biparietal Alzheimer disease" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities." }, "child_count": 0, "reference_id": "MONDO:0018899" }, { "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": 18952, "label": "leukodystrophy", "isLeaf": false, "isRoot": false, "parents": [ 21292 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050987", "DOID:0060786", "DOID:10579", "GARD:0006895", "ICD9:330.0", "MEDGEN:6070", "MedDRA:10024381", "NANDO:1200575", "NANDO:2200836", "NCIT:C61253", "NORD:1367", "OMIMPS:312080", "Orphanet:68356", "SCTID:192781003", "UMLS:C0023520", "icd11.foundation:468040251" ], "synonyms": [ "hypomyelinating leukodystrophy", "hypomyelinating leukoencephalopathy", "leukodystrophy, hypomyelinating" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems." }, "child_count": 65, "reference_id": "MONDO:0019046" }, { "id": 18959, "label": "hereditary spastic paraplegia", "isLeaf": false, "isRoot": false, "parents": [ 5637, 21292, 24271 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2476", "GARD:0006637", "ICD10CM:G11.4", "ICD9:334.1", "MEDGEN:20844", "MESH:D015419", "MedDRA:10019903", "NANDO:1200052", "NCIT:C140267", "NORD:1238", "OMIMPS:303350", "Orphanet:685", "SCTID:39912006", "UMLS:C0037773", "icd11.foundation:810807375" ], "synonyms": [ "spastic paraplegia", "HSP", "SPG", "Strümpell-Lorrain disease", "familial spastic paraplegia", "hereditary spastic paraparesis", "FSP", "familial spastic paraparesis" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs." }, "child_count": 135, "reference_id": "MONDO:0019064" }, { "id": 19234, "label": "facial onset sensory and motor neuronopathy", "isLeaf": true, "isRoot": false, "parents": [ 21292 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012036", "MEDGEN:1374397", "Orphanet:85162", "SCTID:723306004", "UMLS:C4509818" ], "synonyms": [ "FOSMN syndrome", "facial onset sensorimotor neuronopathy syndrome", "facial onset sensory and motor neuronopathy syndrome" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Facial onset sensory and motor neuronopathy is characterized initially by paraesthesia and numbness in the region of the trigeminal nerve distribution, which later progresses to involve the scalp, neck, upper trunk and upper limbs. Onset of motor manifestations occurs later with cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy. This syndrome has been described in four males and appears to be a slowly progressive neurodegenerative disease." }, "child_count": 0, "reference_id": "MONDO:0019405" }, { "id": 19254, "label": "X-linked neurodegenerative syndrome, Bertini type", "isLeaf": true, "isRoot": false, "parents": [ 21292 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019061", "MEDGEN:930802", "Orphanet:85334", "SCTID:718849008", "UMLS:C4305133" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked neurodegenerative syndrome, Bertini type is characterized by generalized hypotonia, psychomotor deficit, congenital ataxia and recurrent bronchopulmonary infections. It has been described in seven males from three generations of a family. Five of them died during the first years of life and the remaining patients developed myoclonic encephalopathy and macular degeneration. The locus has been mapped to Xp22.33-pter." }, "child_count": 0, "reference_id": "MONDO:0019427" }, { "id": 19256, "label": "X-linked neurodegenerative syndrome, Hamel type", "isLeaf": true, "isRoot": false, "parents": [ 21292 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019062", "MEDGEN:930804", "Orphanet:85336", "SCTID:718847005", "UMLS:C4305135" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An X-linked neurodegenerative disorder characterized by intellectual deficit, blindness, convulsions, spasticity, mild hypomyelination and early death. It has been described in about ten male members from two generations of one family. The genetic defect responsible for the disorder is located in the pericentromeric region of the X chromosome, Xp11.3-q12." }, "child_count": 0, "reference_id": "MONDO:0019429" }, { "id": 20806, "label": "boylan dew greco syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4626, 10051, 21292 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000954", "MEDGEN:419407", "MESH:C537083", "UMLS:C2931419" ], "synonyms": [ "congenital hypomyelination neuropathy with arthrogryposis multiplex congenita" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0022025" }, { "id": 21302, "label": "hereditary motor neuron disease", "isLeaf": false, "isRoot": false, "parents": [ 19749, 21292, 24271 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019478", "MEDGEN:78728", "Orphanet:98505", "SCTID:49793008", "UMLS:C0270763" ], "synonyms": [ "genetic anterior horn cell disease", "genetic motor neuron disease", "hereditary motor neuron disease" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An instance of motor neuron disease that is caused by an inherited modification of the individual's genome." }, "child_count": 27, "reference_id": "MONDO:0024257" }, { "id": 21811, "label": "neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline", "isLeaf": true, "isRoot": false, "parents": [ 21292 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027266", "MEDGEN:1715031", "OMIM:618868", "UMLS:C5394335" ], "synonyms": [ "CONATOC", "neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0030028" }, { "id": 22128, "label": "frontotemporal dementia and/or amyotrophic lateral sclerosis", "isLeaf": false, "isRoot": false, "parents": [ 21292 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025663", "OMIMPS:105500" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 8, "reference_id": "MONDO:0030923" }, { "id": 22145, "label": "neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities", "isLeaf": true, "isRoot": false, "parents": [ 21292 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0061189", "GARD:0018023", "MEDGEN:1781967", "OMIM:619173", "Orphanet:610573", "UMLS:C5543020" ], "synonyms": [ "CONRIBA", "neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0030947" }, { "id": 22190, "label": "neurodegeneration with ataxia and late-onset optic atrophy", "isLeaf": true, "isRoot": false, "parents": [ 21292 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027269", "MEDGEN:1779901", "OMIM:619259", "UMLS:C5543254" ], "synonyms": [ "NDAXOA" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0031006" }, { "id": 22331, "label": "neurodegeneration, childhood-onset, with cerebellar atrophy", "isLeaf": true, "isRoot": false, "parents": [ 21292 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027270", "MEDGEN:1648286", "OMIM:618276", "UMLS:C4748934" ], "synonyms": [ "CONDCA" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032650" }, { "id": 22416, "label": "neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia", "isLeaf": true, "isRoot": false, "parents": [ 21292 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027271", "MEDGEN:1676579", "OMIM:618451", "UMLS:C5193104" ], "synonyms": [ "NDCAMA" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032758" }, { "id": 22675, "label": "neurodegeneration, infantile-onset, biotin-responsive", "isLeaf": true, "isRoot": false, "parents": [ 21292 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027272", "MEDGEN:1771692", "OMIM:618973", "Orphanet:521268", "UMLS:C5436520" ], "synonyms": [ "NERIB", "SMVT deficiency", "sodium-dependent multivitamin transporter deficiency" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0033546" }, { "id": 23256, "label": "hereditary optic atrophy", "isLeaf": false, "isRoot": false, "parents": [ 3336, 21292 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025871", "ICD10CM:H47.22", "MEDGEN:45207", "MESH:D015418", "NCIT:C34864", "OMIMPS:165500", "SCTID:26360005", "UMLS:C0029125" ], "synonyms": [ "hereditary optic atrophy", "Atrophies, hereditary optic", "atrophy, hereditary optic", "hereditary optic Atrophies", "optic atrophy, hereditary" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A family of inherited disorders characterized by progressive loss of vision secondary to death of the retinal ganglion cell axons that comprise the optic nerve." }, "child_count": 30, "reference_id": "MONDO:0043878" }, { "id": 23377, "label": "early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 21292, 23939 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070423", "GARD:0017911", "MEDGEN:1798877", "OMIM:617193", "Orphanet:496641", "UMLS:C5567454" ], "synonyms": [ "PEBAT", "encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum", "encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum; PEBAT" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0044646" }, { "id": 23411, "label": "psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16626, 17989, 21292 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017943", "MEDGEN:1621949", "OMIM:617595", "Orphanet:505242", "UMLS:C4539828" ], "synonyms": [ "Cerebrorenal syndrome, Perez type", "BILAPES", "Birk-Landau-Perez syndrome" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0044726" }, { "id": 23839, "label": "familial Alzheimer disease", "isLeaf": false, "isRoot": false, "parents": [ 6717, 16360, 21292 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:82914", "UMLS:C0276496" ], "synonyms": [ "Alzheimer disease, familial", "FAD", "GARD:0000632" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. About 25% of all Alzheimer disease is familial (more than 2 people in a family have AD). When Alzheimer disease begins before 60 or 65 years of age (early-onset AD) about 60% of the cases are familial (also known as Early-onset familial AD). These cases appear to be inherited in an autosomal dominant manner." }, "child_count": 6, "reference_id": "MONDO:0100087" }, { "id": 23846, "label": "neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures", "isLeaf": true, "isRoot": false, "parents": [ 7611, 21292 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070352", "GARD:0026044", "MEDGEN:1648391", "OMIM:618170", "Orphanet:694922", "UMLS:C4748527" ], "synonyms": [ "CONDSIAS", "childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome", "neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development, with cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable. The cause is mutations in the ADPRHL2 gene." }, "child_count": 0, "reference_id": "MONDO:0100095" }, { "id": 24046, "label": "hereditary cerebellar ataxia", "isLeaf": false, "isRoot": false, "parents": [ 2908, 21292, 24045 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026137", "MEDGEN:78726", "NCIT:C140268", "UMLS:C0270749" ], "synonyms": [ "cerebellar hereditary ataxia", "hereditary cerebellar ataxia" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Cerebellar ataxia that is transmitted from parent to child." }, "child_count": 15, "reference_id": "MONDO:0100310" }, { "id": 24343, "label": "DCTN1-related neurodegeneration", "isLeaf": false, "isRoot": false, "parents": [ 21292 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027375" ], "synonyms": [ "DCTN1-RD", "DCTN1-related disorder" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any neurodegenerative disorder in which the cause of the disease is a mutation in the DCTN1 gene." }, "child_count": 2, "reference_id": "MONDO:0100624" }, { "id": 24682, "label": "early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy", "isLeaf": true, "isRoot": false, "parents": [ 21292 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027380", "MEDGEN:1876471", "OMIM:621129", "UMLS:C6012705" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0700288" }, { "id": 25056, "label": "TUBB4A-related neurologic disorder", "isLeaf": false, "isRoot": false, "parents": [ 21292 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026570" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any neurologic condition in which the cause of the disease is a mutation in the TUBB4A gene." }, "child_count": 1, "reference_id": "MONDO:0800470" }, { "id": 25383, "label": "neurodegeneration, childhood-onset, with progressive microcephaly", "isLeaf": true, "isRoot": false, "parents": [ 21292 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027309", "MEDGEN:1801540", "OMIM:619847", "UMLS:C5676972" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859241" }, { "id": 25438, "label": "neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction", "isLeaf": true, "isRoot": false, "parents": [ 21292 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027311", "MEDGEN:1824013", "OMIM:620089", "UMLS:C5774240" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859304" }, { "id": 25607, "label": "neurodegeneration and seizures due to copper transport defect", "isLeaf": true, "isRoot": false, "parents": [ 21292 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027312", "MEDGEN:1841021", "OMIM:620306", "UMLS:C5830385" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0957211" }, { "id": 25614, "label": "neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities", "isLeaf": true, "isRoot": false, "parents": [ 21292 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026793", "MEDGEN:1841069", "OMIM:620327", "UMLS:C5830433" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0957225" }, { "id": 25784, "label": "neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline", "isLeaf": true, "isRoot": false, "parents": [ 21292 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027313", "MEDGEN:1847831", "OMIM:620636", "UMLS:C5882726" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0957985" }, { "id": 26204, "label": "neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairment", "isLeaf": true, "isRoot": false, "parents": [ 21292 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027437", "MEDGEN:1876537", "OMIM:301142", "UMLS:C6012689" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0976236" }, { "id": 26421, "label": "neurodegenerative disorder with cerebellar and caudate atrophy", "isLeaf": true, "isRoot": false, "parents": [ 21292 ], "type_id": 0, "properties": { "xrefs": [ "OMIM:621525" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0981024" }, { "id": 29349, "label": "APP-related brain and vascular amyloidosis", "isLeaf": false, "isRoot": false, "parents": [ 12183, 18631, 21292 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028185" ], "synonyms": [ "APP-related brain and vascular amyloidosis" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A hereditary amyloidosis characterized by a spectrum of neurodegenerative and neurovascular phenotypes caused by pathogenic variant in the APP gene, resulting in an abnormal clearance of amyloid peptides, either by overproduction and decreased clearance of amyloid peptides, with deposition of amyloid in plaques and blood vessel walls. Affected individuals may present with progressive cognitive decline, cerebral vascular amyloidosis with white matter changes, and stroke with or without hemorrhage." }, "child_count": 6, "reference_id": "MONDO:1060190" } ], "roots": [ { "id": 7208, "label": "neurodegenerative disease" }, { "id": 24270, "label": "hereditary neurological disease" } ] }