{ "id": 18952, "label": "leukodystrophy", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0019046", "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." }, "isLeaf": false, "isRoot": false, "child_count": 65, "parents": [ { "id": 21292, "label": "inherited neurodegenerative disorder", "isLeaf": false, "isRoot": false, "parents": [ 7208, 24270 ], "type_id": 0, "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." }, "child_count": 164, "reference_id": "MONDO:0024237" } ], "children": [ { "id": 10025, "label": "Alexander disease", "isLeaf": false, "isRoot": false, "parents": [ 18952 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4252", "GARD:0005774", "MEDGEN:78724", "MESH:D038261", "NANDO:1200554", "NANDO:2200835", "NCIT:C84545", "NORD:749", "OMIM:203450", "Orphanet:58", "SCTID:81854007", "UMLS:C0270726", "icd11.foundation:2023359698" ], "synonyms": [ "Alexander disease", "AxD", "ALXDRD", "alexanders leukodystrophy", "megalencephaly in infancy accompanied by progressive spasticity and dementia" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death." }, "child_count": 2, "reference_id": "MONDO:0008752" }, { "id": 10208, "label": "cerebrotendinous xanthomatosis", "isLeaf": true, "isRoot": false, "parents": [ 4666, 7019, 16607, 18952, 19085, 19144, 19712, 19748, 19753, 23512 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4810", "GARD:0005622", "MEDGEN:116041", "MESH:D019294", "NANDO:1200856", "NCIT:C84628", "NORD:915", "OMIM:213700", "Orphanet:909", "SCTID:63246000", "UMLS:C0238052", "icd11.foundation:1556875179" ], "synonyms": [ "CTX", "CTx", "cerebrotendinous xanthomatosis", "cholestanol storage disease", "sterol 27-hydroxylase deficiency", "cerebral cholesterinosis" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." }, "child_count": 0, "reference_id": "MONDO:0008948" }, { "id": 10340, "label": "polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly", "isLeaf": false, "isRoot": false, "parents": [ 7611, 18952, 19478 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0090112", "GARD:0009921", "ICD9:758.89", "MEDGEN:387795", "NANDO:1200658", "OMIMPS:221770", "Orphanet:2770", "SCTID:702347001", "UMLS:C1857316" ], "synonyms": [ "NHD", "Nasu-Hakola disease", "PLO-SL", "PLOSL", "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy", "polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly", "brain-bone-fat disease", "dementia, prefrontal, with bone cysts", "dementia, progressive, with lipomembranous polycystic osteodysplasia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities." }, "child_count": 6, "reference_id": "MONDO:0009092" }, { "id": 10341, "label": "dermatoleukodystrophy", "isLeaf": true, "isRoot": false, "parents": [ 18952 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001813", "MEDGEN:387794", "MESH:C538220", "OMIM:221790", "Orphanet:1659", "SCTID:733044009", "UMLS:C1857314" ], "synonyms": [ "Dermatoleukodystrophy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Dermatoleukodystrophy is characterized by the association of a progressive leukodystrophy marked by generalized mental and motor impairment with the presence of thickened and wrinkled skin. It has been described in a Japanese brother and sister born to healthy parents. Both patients died in early childhood." }, "child_count": 0, "reference_id": "MONDO:0009093" }, { "id": 10724, "label": "Krabbe disease", "isLeaf": false, "isRoot": false, "parents": [ 6639, 18952, 19116, 19748 ], "type_id": 0, "properties": { "xrefs": [ "DOID:10587", "GARD:0006844", "ICD10CM:E75.23", "MEDGEN:44131", "MESH:D007965", "MedDRA:10023492", "NANDO:1200074", "NANDO:2200564", "NCIT:C61254", "NORD:1368", "OMIM:245200", "Orphanet:487", "SCTID:189979005", "SCTID:192782005", "UMLS:C0023521", "icd11.foundation:796317173" ], "synonyms": [ "GALC deficiency", "GALC enzyme deficiency", "Krabbe disease", "Krabbe's leukodystrophy", "Leukodystrophy, Krabbe's", "diffuse globoid body sclerosis", "galactocerebrosidase deficiency", "galactosylceramidase deficiency", "galactosylceramide lipidosis", "globoid cell leukodystrophy", "globoid cell leukoencephalopathy", "later onset Krabbe disease", "later-onset Krabbe disease", "GLD", "Krabbe leukodystrophy", "galactosylceramide Beta-galactosidase deficiency" ], "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 lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." }, "child_count": 12, "reference_id": "MONDO:0009499" }, { "id": 11225, "label": "Sjogren-Larsson syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4198, 7019, 7611, 16607, 18270, 18952 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14501", "GARD:0007654", "MEDGEN:11443", "MESH:D016111", "MedDRA:10048676", "NANDO:1200620", "NANDO:2200994", "NCIT:C85070", "NORD:1377", "OMIM:270200", "Orphanet:816", "SCTID:111303009", "UMLS:C0037231", "icd11.foundation:418359090" ], "synonyms": [ "SLS", "Senior-Løken Syndrome", "Sjogren-Larsson syndrome", "fatty acid alcohol oxidoreductase deficiency", "FADH deficiency", "FALDH deficiency", "FAO deficiency", "Sjögren-Larsson syndrome", "fatty alcohol:NAD+ oxidoreductase deficiency", "fatty aldehyde dehydrogenase deficiency", "ichthyosis, spastic neurologic disorder, and oligophrenia" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity." }, "child_count": 0, "reference_id": "MONDO:0010031" }, { "id": 11267, "label": "Canavan disease", "isLeaf": false, "isRoot": false, "parents": [ 17926, 18952 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3613", "GARD:0005984", "MEDGEN:61565", "MESH:D017825", "MedDRA:10067608", "NANDO:1200948", "NANDO:2200834", "NCIT:C84611", "NORD:886", "OMIM:271900", "Orphanet:141", "SCTID:80544005", "UMLS:C0206307", "icd11.foundation:1576870846" ], "synonyms": [ "ACY2 deficiency", "Canavan disease", "Canavan-VAN Bogaert-Bertrand disease", "aminoacylase 2 deficiency", "aspartoacylase deficiency", "spongy degeneration of central nervous system", "spongy degeneration of the brain", "Acy2 deficiency", "Asp deficiency", "Aspa deficiency", "Canavan-Van Bogaert-Bertrand disease", "Von Bogaert-Bertrand disease", "spongy Degeneration of central nervous system", "spongy degeneration of the central nervous system" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay." }, "child_count": 4, "reference_id": "MONDO:0010079" }, { "id": 11856, "label": "Pelizaeus-Merzbacher spectrum disorder", "isLeaf": false, "isRoot": false, "parents": [ 18952 ], "type_id": 0, "properties": { "xrefs": [ "DECIPHER:38", "DOID:3210", "GARD:0004265", "MEDGEN:61440", "MESH:D020371", "MedDRA:10067610", "NANDO:1200576", "NANDO:2201288", "NCIT:C75487", "OMIM:312080", "Orphanet:702", "SCTID:64855000", "UMLS:C0205711", "icd11.foundation:1313582105" ], "synonyms": [ "HLD1", "PMD", "Pelizaeus-Merzbacher brain sclerosis", "Pelizaeus-Merzbacher disease", "Pelizaeus-Merzbacher disease, X-linked recessive", "Pelizaeus-Merzbacher spectrum disorder", "Sudanophilic leukodystrophy, Paelizeus-Merzbacher type", "diffuse familial brain sclerosis", "sudanophilic leukodystrophy, Paelizeus-Merzbacher type", "Pelizaeus Merzbacher disease", "leukodystrophy, hypomyelinating, 1" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD." }, "child_count": 5, "reference_id": "MONDO:0010714" }, { "id": 11873, "label": "hereditary spastic paraplegia 2", "isLeaf": true, "isRoot": false, "parents": [ 18952, 18959 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110773", "GARD:0004923", "MEDGEN:199692", "OMIM:312920", "Orphanet:99015", "SCTID:723622007", "UMLS:C0751604" ], "synonyms": [ "PLP1 hereditary spastic paraplegia", "SPG2", "X-linked spastic paraplegia type 2", "hereditary spastic paraplegia caused by mutation in PLP1", "hereditary spastic paraplegia type 2", "spastic gait type 2", "spastic paraparesis type 2", "spastic paraplegia 2, X-linked, X-linked recessive", "spastic paraplegia type 2", "Sppx2", "spastic paraplegia 2", "spastic paraplegia 2, X-linked" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG." }, "child_count": 0, "reference_id": "MONDO:0010733" }, { "id": 12497, "label": "megalencephalic leukoencephalopathy with subcortical cysts", "isLeaf": false, "isRoot": false, "parents": [ 2738, 18952 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080315", "GARD:0003445", "MEDGEN:347006", "MESH:C536141", "NANDO:1200950", "NANDO:2200837", "Orphanet:2478", "SCTID:703536004", "UMLS:C1858854" ], "synonyms": [ "MLC", "Vacuolating megalencephalic leukoencephalopathy with subcortical cysts", "Van der Knaap syndrome", "megalencephalic leukodystrophy", "megalencephalic leukoencephalopathy with subcortical cysts type 1", "megalencephaly-cystic leukodystrophy syndrome", "MLC1", "megalencephalic leukoencephalopathy with subcortical cysts 1", "megalencephaly-cystic leukodystrophy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions." }, "child_count": 6, "reference_id": "MONDO:0011391" }, { "id": 13139, "label": "ribose-5-P isomerase deficiency", "isLeaf": true, "isRoot": false, "parents": [ 18952, 19095 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017747", "ICD9:277.6", "MEDGEN:220946", "MESH:C563212", "OMIM:608611", "Orphanet:440706", "SCTID:124667004", "UMLS:C1291609" ], "synonyms": [ "ribose 5-phosphate isomerase deficiency" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy." }, "child_count": 0, "reference_id": "MONDO:0012073" }, { "id": 13562, "label": "hypomyelinating leukodystrophy 5", "isLeaf": true, "isRoot": false, "parents": [ 18952 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060793", "GARD:0011980", "ICD9:341.8", "MEDGEN:501134", "MESH:C567166", "NANDO:1200584", "NANDO:2201296", "OMIM:610532", "Orphanet:85163", "SCTID:702379005", "UMLS:C1864663" ], "synonyms": [ "FAM126A leukodystrophy", "HLD5", "hypomyelinating leukodystrophy type 5", "hypomyelination-congenital cataract syndrome", "leukodystrophy caused by mutation in FAM126A", "leukodystrophy, hypomyelinating, type 5", "hypomyelination - congenital cataract", "hypomyelination and congenital cataract", "hypomyelination and congenital cataract: HCC", "leukodystrophy, hypomyelinating, 5" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit." }, "child_count": 0, "reference_id": "MONDO:0012514" }, { "id": 13668, "label": "leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16918, 18952 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012652", "MEDGEN:370845", "MESH:C567009", "NORD:1941", "OMIM:611105", "Orphanet:137898", "SCTID:703537008", "UMLS:C1970180" ], "synonyms": [ "LBSL", "Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation", "leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome", "leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome", "leukoencephalopathy with brain stem and spinal cord involvement - high lactate", "leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation", "leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation", "leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation", "mitochondrial aspartyl-tRNA synthetase deficiency" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "This disease is characterized by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter." }, "child_count": 0, "reference_id": "MONDO:0012622" }, { "id": 13945, "label": "hypomyelinating leukodystrophy 6", "isLeaf": true, "isRoot": false, "parents": [ 18952, 25056 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060798", "GARD:0010917", "MEDGEN:436642", "MESH:C567314", "NANDO:1200578", "NANDO:2201290", "OMIM:612438", "Orphanet:139441", "UMLS:C2676244" ], "synonyms": [ "H-ABC", "HABC", "HLD6", "hypomyelinating leukodystrophy type 6", "hypomyelination with atrophy of basal ganglia and cerebellum", "leukodystrophy, hypomyelinating, type 6", "leukodystrophy, hypomyelinating, 6", "leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A leukodystrophy characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria." }, "child_count": 0, "reference_id": "MONDO:0012905" }, { "id": 14096, "label": "cystic leukoencephalopathy without megalencephaly", "isLeaf": true, "isRoot": false, "parents": [ 18952 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081007", "GARD:0013199", "MEDGEN:416646", "MESH:C567845", "OMIM:612951", "Orphanet:85136", "SCTID:720825005", "UMLS:C2751843", "icd11.foundation:1081165012" ], "synonyms": [ "CLWM", "RNAse T2-deficient leukoencephalopathy", "leukoencephalopathy, cystic, without megalencephaly" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Cystic leukoencephalopathy without megalencephaly is characterized by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0013058" }, { "id": 14424, "label": "sterol carrier protein 2 deficiency", "isLeaf": true, "isRoot": false, "parents": [ 18952, 19097 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012471", "MEDGEN:462340", "NANDO:1200767", "OMIM:613724", "Orphanet:163684", "UMLS:C3150990" ], "synonyms": [ "SCP2 deficiency", "leukoencephalopathy-dystonia-motor neuropathy syndrome", "sterol carrier protein 2 deficiency", "LKDMN", "leukoencephalopathy - dystonia - motor neuropathy", "leukoencephalopathy with dystonia and motor neuropathy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy." }, "child_count": 0, "reference_id": "MONDO:0013391" }, { "id": 14981, "label": "leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome", "isLeaf": true, "isRoot": false, "parents": [ 3109, 18952 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111493", "GARD:0013381", "MEDGEN:1645614", "OMIM:614924", "Orphanet:314051", "SCTID:763366000", "UMLS:C4706421" ], "synonyms": [ "COXPD12", "EARS2 combined oxidative phosphorylation deficiency", "LTBL", "combined oxidative phosphorylation defect type 12", "combined oxidative phosphorylation deficiency caused by mutation in EARS2", "combined oxidative phosphorylation deficiency type 12", "leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome", "combined oxidative phosphorylation deficiency 12", "leukoencephalopathy with thalamus and brainstem involvement and high lactate" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Leukoencephalopathy-thalamus and brainstem anomalies-high lactate (LTBL) syndrome is a rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward." }, "child_count": 0, "reference_id": "MONDO:0013971" }, { "id": 15123, "label": "hypomyelination with brain stem and spinal cord involvement and leg spasticity", "isLeaf": true, "isRoot": false, "parents": [ 18952 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017554", "MEDGEN:1667792", "OMIM:615281", "Orphanet:363412", "UMLS:C4755254" ], "synonyms": [ "HBSL", "aspartyl-tRNA synthetase deficiency", "hypomyelination with brainstem and spinal cord involvement and leg spasticity" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014115" }, { "id": 15296, "label": "leukoencephalopathy with mild cerebellar ataxia and white matter edema", "isLeaf": true, "isRoot": false, "parents": [ 18952 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017565", "MEDGEN:1638681", "NCIT:C171603", "OMIM:615651", "Orphanet:363540", "SCTID:768663003", "UMLS:C4554120" ], "synonyms": [ "LKPAT", "leukoencephalopathy with ataxia" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014292" }, { "id": 15463, "label": "progressive encephalopathy with leukodystrophy due to DECR deficiency", "isLeaf": true, "isRoot": false, "parents": [ 18270, 18952 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010327", "MEDGEN:346552", "MESH:C565624", "OMIM:616034", "Orphanet:431361", "UMLS:C1857252" ], "synonyms": [ "2,4-dienoyl-CoA reductase deficiency", "DECR deficiency with hyperlysinemia", "progressive encephalopathy with leukodystrophy due to DECR deficiency", "2,4-alpha dienoyl-CoA reductase deficiency", "DECRD", "dienoyl-CoA reductase deficiency" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Progressive encephalopathy with leukodystrophy due to DECR deficiency is a rare mitochondrial disease, which presents with neonatal hypotonia, central nervous system abnormalities (ventriculomegaly, corpus callosum hypoplasia, cerebellar atrophy), acquired microcephaly, failure to thrive, developmental delay and intermittent lactic acidosis provoked by catabolic stress (e.g. infection). Hyperlysinemia and elevated C10:2 carnitine can be detected in plasma. Later on, epilepsy, cerebellar ataxia, renal tubular acidosis, severe encephalopathy, dystonia, spastic quadriplegia and other complications may develop." }, "child_count": 0, "reference_id": "MONDO:0014464" }, { "id": 15505, "label": "hypomyelinating leukodystrophy 9", "isLeaf": true, "isRoot": false, "parents": [ 18952 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060791", "GARD:0017734", "MEDGEN:863760", "OMIM:616140", "Orphanet:438114", "UMLS:C4015323" ], "synonyms": [ "HLD9", "RARS leukodystrophy", "RARS-related autosomal recessive hypomyelinating leukodystrophy", "hypomyelinating leukodystrophy type 9", "leukodystrophy caused by mutation in RARS", "leukodystrophy, hypomyelinating, type 9", "leukodystrophy, hypomyelinating, 9" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any leukodystrophy in which the cause of the disease is a mutation in the RARS gene." }, "child_count": 0, "reference_id": "MONDO:0014506" }, { "id": 15608, "label": "multiple mitochondrial dysfunctions syndrome 4", "isLeaf": true, "isRoot": false, "parents": [ 6639, 17655, 18952 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080136", "GARD:0017809", "MEDGEN:899010", "OMIM:616370", "Orphanet:457406", "UMLS:C4225348" ], "synonyms": [ "ISCA2 fatal multiple mitochondrial dysfunctions syndrome", "fatal multiple mitochondrial dysfunctions syndrome caused by mutation in ISCA2", "multiple mitochondrial dysfunctions syndrome 4", "multiple mitochondrial dysfunctions syndrome type 4", "MMDS4" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the ISCA2 gene." }, "child_count": 0, "reference_id": "MONDO:0014611" }, { "id": 15628, "label": "hypomyelinating leukodystrophy 10", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 18952 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060788", "GARD:0025008", "MEDGEN:904191", "OMIM:616420", "Orphanet:481152", "UMLS:C4225332" ], "synonyms": [ "HLD10", "PYCR2 leukodystrophy", "PYCR2-related microcephaly-progressive leukoencephalopathy", "hypomyelinating leukodystrophy type 10", "leukodystrophy caused by mutation in PYCR2", "leukodystrophy, hypomyelinating, 10", "leukodystrophy, hypomyelinating, type 10" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any leukodystrophy in which the cause of the disease is a mutation in the PYCR2 gene." }, "child_count": 0, "reference_id": "MONDO:0014632" }, { "id": 15724, "label": "hypomyelinating leukodystrophy 12", "isLeaf": true, "isRoot": false, "parents": [ 18952, 24338 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060796", "GARD:0017837", "MEDGEN:905068", "OMIM:616683", "Orphanet:466934", "UMLS:C4225247" ], "synonyms": [ "HLD12", "VPS11 leukodystrophy", "VPS11-related autosomal recessive hypomyelinating leukoencephalopathy", "hypomyelinating leukodystrophy type 12", "leukodystrophy caused by mutation in VPS11", "leukodystrophy, hypomyelinating, 12", "leukodystrophy, hypomyelinating, type 12", "VPS11-related autosomal recessive hypomyelinating leukodystrophy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any leukodystrophy in which the cause of the disease is a mutation in the VPS11 gene." }, "child_count": 0, "reference_id": "MONDO:0014732" }, { "id": 15800, "label": "hypomyelinating leukodystrophy 13", "isLeaf": true, "isRoot": false, "parents": [ 18952 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060795", "GARD:0025018", "MEDGEN:896545", "OMIM:616881", "UMLS:C4225170" ], "synonyms": [ "HIKESHI leukodystrophy", "HLD13", "hikeshi leukodystrophy", "hypomyelinating leukodystrophy type 13", "leukodystrophy caused by mutation in HIKESHI", "leukodystrophy caused by mutation in hikeshi", "leukodystrophy, hypomyelinating, 13", "leukodystrophy, hypomyelinating, type 13" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any leukodystrophy in which the cause of the disease is a mutation in the HIKESHI gene." }, "child_count": 0, "reference_id": "MONDO:0014813" }, { "id": 16210, "label": "leukoencephalopathy with bilateral anterior temporal lobe cysts", "isLeaf": true, "isRoot": false, "parents": [ 18952 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019917", "MEDGEN:930413", "Orphanet:139444", "UMLS:C4304744", "icd11.foundation:138159250" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Leukoencephalopathy with bilateral anterior temporal lobe cysts is a nonprogressive neurological disorder marked by intellectual deficit, spasticity and motor retardation associated with characteristic MRI findings of anterior bilateral temporal lobe cysts and multilobar leukoencephalopathy. So far, around 30 cases have been reported in the literature. Onset occurs in the first few months of life. Sensorineural deafness and microcephaly have also been reported. The etiology is unknown but an autosomal recessive mode of inheritance has been suggested." }, "child_count": 0, "reference_id": "MONDO:0015348" }, { "id": 16211, "label": "progressive cavitating leukoencephalopathy", "isLeaf": true, "isRoot": false, "parents": [ 18952 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019918", "MEDGEN:930509", "Orphanet:139447", "SCTID:719267003", "UMLS:C4304840", "icd11.foundation:340540374" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Progressive cavitating leukoencephalopathy is characterized by acute episodes of neurological deficit (ataxia, dysarthria, seizures) with irritability and opisthotonus followed by either steady deterioration or alternating periods of rapid progression and prolonged periods of stability." }, "child_count": 0, "reference_id": "MONDO:0015349" }, { "id": 17565, "label": "Pelizaeus-Merzbacher-like disease", "isLeaf": false, "isRoot": false, "parents": [ 18952 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012300", "MEDGEN:894734", "NANDO:1200577", "NANDO:2201289", "Orphanet:280270", "SCTID:717042001", "UMLS:C4274084", "icd11.foundation:1101042369" ], "synonyms": [ "PMLD" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD)." }, "child_count": 3, "reference_id": "MONDO:0017226" }, { "id": 18369, "label": "CADDS", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16198, 18952, 18955 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012472", "Orphanet:369942" ], "synonyms": [ "CADDS", "Zellweger-like contiguous gene deletion syndrome", "contiguous ABCD1 DXS1357E deletion syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "CADDS is a rare, genetic, neurometabolic disease characterized by severe intrauterine growth retardation, failure to thrive, profound neonatal hypotonia, severe global development delay, elevated very long chain fatty acids in plasma, and neonatal cholestasis leading to hepatic failure and death. Other features include ocular abnormalities (e.g. blindness and cataracts), sensorineural deafness, seizures, and abnormal brain morphology (notably delayed CNS myelination and ventriculomegaly)." }, "child_count": 0, "reference_id": "MONDO:0018247" }, { "id": 18561, "label": "adrenoleukodystrophy", "isLeaf": false, "isRoot": false, "parents": [ 2902, 7151, 16360, 18952, 24100 ], "type_id": 0, "properties": { "xrefs": [ "DOID:10588", "GARD:0005758", "MEDGEN:57667", "MESH:D000326", "MedDRA:10051260", "NANDO:1200165", "NANDO:2200576", "NCIT:C61252", "NORD:736", "OMIM:300100", "Orphanet:43", "UMLS:C0162309", "icd11.foundation:1085655586" ], "synonyms": [ "ABCD1 deficiency", "ALD", "Bronze-Schilder disease", "Siemerling-Creutzfeldt disease", "X-ALD", "X-Linked Adrenoleukodystrophy", "X-linked ALD", "X-linked adrenoleukodystrophy", "adrenoleukodystrophy", "adrenoleukodystrophy, X-linked", "adrenoleukodystrophy, X-linked recessive", "adrenomyeloneuropathy, adult", "adrenomyeloneuropathy, adult, X-linked recessive", "diffuse cerebral sclerosis of Schilder", "diffuse sclerosis" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." }, "child_count": 15, "reference_id": "MONDO:0018544" }, { "id": 18583, "label": "non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy", "isLeaf": true, "isRoot": false, "parents": [ 16918, 18952, 19748 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021819", "MEDGEN:1806079", "Orphanet:436271", "UMLS:C5688227" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0018576" }, { "id": 18799, "label": "Aicardi-Goutieres syndrome", "isLeaf": false, "isRoot": false, "parents": [ 5658, 7611, 18952, 21247, 25666 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050629", "GARD:0000575", "ICD9:333.0", "MEDGEN:97953", "MESH:C535607", "NANDO:1200996", "NANDO:2100244", "NANDO:2200893", "NORD:111728", "OMIMPS:225750", "Orphanet:51", "SCTID:230312006", "UMLS:C0393591" ], "synonyms": [ "Aicardi Goutieres syndrome", "Aicardi-Goutières Syndrome", "Cree encephalitis", "encephalopathy with basal ganglia calcification", "encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid", "AGS", "Aicardi-Goutières syndrome", "encephalopathy, familial infantile, with calcification of basal ganglia and chronic cerebrospinal fluid lymphocytosis", "pseudotoxoplasmosis syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Aicardi-Goutieres syndrome (AGS) is an inherited, subacute encephalopathy characterized by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis." }, "child_count": 50, "reference_id": "MONDO:0018866" }, { "id": 18800, "label": "metachromatic leukodystrophy", "isLeaf": false, "isRoot": false, "parents": [ 16360, 18952, 19116, 19748 ], "type_id": 0, "properties": { "xrefs": [ "DOID:10581", "GARD:0003230", "ICD10CM:E75.25", "MEDGEN:6071", "MESH:D007966", "MedDRA:10067609", "NANDO:1200078", "NANDO:2200560", "NCIT:C61251", "NORD:1369", "Orphanet:512", "SCTID:238031009", "SCTID:396338004", "SCTID:66521008", "UMLS:C0023522", "icd11.foundation:172326564" ], "synonyms": [ "MLD", "arylsulfatase A deficiency" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare lysosomal storage disorder characterized by intralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function." }, "child_count": 8, "reference_id": "MONDO:0018868" }, { "id": 19098, "label": "peroxisome biogenesis disorder", "isLeaf": false, "isRoot": false, "parents": [ 4370, 7611, 18952, 18955, 19748 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080377", "GARD:0011890", "MEDGEN:330407", "MESH:C531857", "MESH:C536664", "NANDO:1200759", "NANDO:2200575", "NCIT:C146639", "NCIT:C155747", "OMIMPS:214100", "Orphanet:79189", "SCTID:742876007", "UMLS:C1832200", "icd11.foundation:1919322367" ], "synonyms": [ "PBD, ZSS", "PBD-ZSD", "peroxisomal biogenesis disorders", "peroxisomal biogenesis disorders, Zellweger syndrome spectrum", "peroxisome biogenesis disorder", "peroxisome biogenesis disorder spectrum", "peroxisome biogenesis disorder-Zellweger syndrome spectrum", "peroxisome biogenesis disorders, Zellweger syndrome spectrum", "cerebrohepatorenal syndrome", "PBD-ZSS", "PBD-Zellweger spectrum disorder", "ZSD", "Zellweger spectrum", "Zellweger spectrum disorder", "Zellweger spectrum disorders", "Zellweger syndrome spectrum", "disorders of peroxisome biogenesis" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD)." }, "child_count": 10, "reference_id": "MONDO:0019234" }, { "id": 19227, "label": "unknown leukodystrophy", "isLeaf": true, "isRoot": false, "parents": [ 18952 ], "type_id": 0, "properties": { "xrefs": [ "Orphanet:84096" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0019397" }, { "id": 19957, "label": "ravine syndrome", "isLeaf": true, "isRoot": false, "parents": [ 18952 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003231", "MEDGEN:907744", "Orphanet:99852", "SCTID:715794009", "UMLS:C4275006", "icd11.foundation:451093599" ], "synonyms": [ "Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome", "progressive encephalopathy with severe infantile anorexia" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Ravine syndrome is an extremely rare genetic neurological disorder, reported in a small number of patients in a specific community on Reunion Island (Ravine region), characterized by infantile anorexia with irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of medulla oblongata and cerebellar white matter and severe atrophy of pons, along with supra-tentorial periventricular white-matter hyperintensities and basal ganglia anomalies." }, "child_count": 0, "reference_id": "MONDO:0020505" }, { "id": 21718, "label": "leukodystrophy, hypomyelinating, 22", "isLeaf": true, "isRoot": false, "parents": [ 18952 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070402", "GARD:0025480", "MEDGEN:1787833", "OMIM:619328", "UMLS:C5543406" ], "synonyms": [ "HLD22" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0025701" }, { "id": 21959, "label": "leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy", "isLeaf": true, "isRoot": false, "parents": [ 18952 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070397", "GARD:0025588", "MEDGEN:1794284", "OMIM:619688", "UMLS:C5562074" ], "synonyms": [ "HLD23" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0030514" }, { "id": 22376, "label": "neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination", "isLeaf": true, "isRoot": false, "parents": [ 17632, 18952, 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018018", "MEDGEN:1684142", "OMIM:618367", "Orphanet:597874", "UMLS:C5193057" ], "synonyms": [ "5,10-methenyltetrahydrofolate synthetase deficiency", "MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome", "NEDMEHM", "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032705" }, { "id": 22392, "label": "leukodystrophy, hypomyelinating, 18", "isLeaf": true, "isRoot": false, "parents": [ 18952 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070399", "GARD:0025731", "MEDGEN:1680067", "OMIM:618404", "UMLS:C5193078" ], "synonyms": [ "HLD18", "LEUKODYSTROPHY, HYPOMYELINATING, 18" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032730" }, { "id": 22523, "label": "leukodystrophy, hypomyelinating, 19, transient infantile", "isLeaf": true, "isRoot": false, "parents": [ 18952 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070400", "GARD:0025763", "MEDGEN:1684698", "OMIM:618688", "UMLS:C5231463" ], "synonyms": [ "HLD19", "LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032871" }, { "id": 22606, "label": "spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy", "isLeaf": true, "isRoot": false, "parents": [ 18064, 18952 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080252", "GARD:0017964", "MEDGEN:1382553", "OMIM:617560", "Orphanet:527497", "UMLS:C4479653" ], "synonyms": [ "spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy", "SPAX8", "spastic ataxia 8" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0033043" }, { "id": 22663, "label": "leukodystrophy, hypomyelinating, 14", "isLeaf": true, "isRoot": false, "parents": [ 18952 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080296", "GARD:0016266", "MEDGEN:1635255", "OMIM:617899", "UMLS:C4693535" ], "synonyms": [ "leukodystrophy, hypomyelinating, 14", "HLD14", "hypomyelinating leukodystrophy 14" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0033486" }, { "id": 22726, "label": "leukodystrophy, hypomyelinating, 20", "isLeaf": true, "isRoot": false, "parents": [ 18952 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112153", "GARD:0025816", "MEDGEN:1765130", "OMIM:619071", "UMLS:C5436730" ], "synonyms": [ "HLD20" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0033657" }, { "id": 22775, "label": "early-onset calcifying leukoencephalopathy-skeletal dysplasia", "isLeaf": true, "isRoot": false, "parents": [ 17540, 18952 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022246", "Orphanet:556985" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0034143" }, { "id": 23373, "label": "c11orf73-related autosomal recessive hypomyelinating leukodystrophy", "isLeaf": true, "isRoot": false, "parents": [ 18952 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017910", "MEDGEN:1798879", "Orphanet:495844", "UMLS:C5567456" ], "synonyms": [ "C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy", "hypomyelinating leukodystrophy due to hikeshi deficiency" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0044642" }, { "id": 23404, "label": "alkaline ceramidase 3 deficiency", "isLeaf": true, "isRoot": false, "parents": [ 18952 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017936", "MEDGEN:1622324", "OMIM:617762", "Orphanet:502444", "UMLS:C4540358" ], "synonyms": [ "ACER3-related early childhood-onset progressive leukodystrophy", "leukodystrophy due to alkaline ceramidase 3 deficiency", "PLDECO", "leukodystrophy, progressive, early childhood-onset" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0044718" }, { "id": 23624, "label": "leukodystrophy, hypomyelinating, 15", "isLeaf": true, "isRoot": false, "parents": [ 18952 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070398", "GARD:0025975", "MEDGEN:1633653", "OMIM:617951", "UMLS:C4693733" ], "synonyms": [ "leukodystrophy, hypomyelinating, 15", "HLD15" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0054782" }, { "id": 23626, "label": "leukodystrophy, hypomyelinating, 16", "isLeaf": true, "isRoot": false, "parents": [ 18952 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070405", "GARD:0025976", "MEDGEN:1631337", "OMIM:617964", "UMLS:C4693779" ], "synonyms": [ "leukodystrophy, hypomyelinating, 16", "HLD16" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0054791" }, { "id": 23634, "label": "leukodystrophy, hypomyelinating, 17", "isLeaf": true, "isRoot": false, "parents": [ 18952 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070404", "GARD:0025980", "MEDGEN:1644557", "OMIM:618006", "UMLS:C4693912" ], "synonyms": [ "leukodystrophy, hypomyelinating, 17", "HLD17" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0054817" }, { "id": 24327, "label": "POLR-related leukodystrophy", "isLeaf": false, "isRoot": false, "parents": [ 18952 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027288", "MEDGEN:1803536", "Orphanet:289494", "UMLS:C5679947" ], "synonyms": [ "4H leukodystrophy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare hypomyelinating leukodystrophy disorder in which the cause of the disease is a variation in any of the POLR genes, including POLR1C, POLR3A or POLR3B. It is characterized by the association of dental abnormalities (delayed dentition, abnormal order of dentition, hypodontia), hypogonadotropic hypogonadism, and hypomyelinating leukodystrophy manifesting with neurodevelopmental delay or regression and/or progressive cerebellar symptoms." }, "child_count": 2, "reference_id": "MONDO:0100605" }, { "id": 24782, "label": "leukoencephalopathy, diffuse hereditary, with spheroids 1", "isLeaf": true, "isRoot": false, "parents": [ 18952, 22045, 24351 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080523", "GARD:0010981", "ICD9:323.81", "MEDGEN:1794139", "MESH:C580150", "NCIT:C153289", "NORD:2033", "OMIM:221820", "Orphanet:313808", "SCTID:702427005", "UMLS:C5561929" ], "synonyms": [ "HDLS", "hereditary diffuse leukoencephalopathy with spheroids", "leukoencephalopathy, diffuse hereditary, with spheroids", "leukoencephalopathy, hereditary diffuse, with spheroids", "ALSP", "Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia", "CSF1R-related ALSP", "CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia", "FPSG", "GPSC", "POLD", "adult-onset leukoencephalopathy with axonal spheroids and pigmented glia", "autosomal dominant leukoencephalopathy with neuroaxonal spheroids", "dementia, familial, Neumann type", "familial dementia, Neumann type", "familial progressive subcortical gliosis", "gliosis, familial progressive subcortical", "leukoencephalopathy with neuroaxonal spheroids, autosomal dominant", "leukoencephalopathy, adult-onset, with axonal spheroids and pigmented glia", "pigmentary orthochromatic leukodystrophy", "subcortical gliosis of Neumann", "adult-onset leukodystrophy with neuroaxonal spheroids", "hereditary diffuse leukoencephalopathy with axonal spheroids", "neuroaxonal leukodystrophy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy." }, "child_count": 0, "reference_id": "MONDO:0800027" }, { "id": 25036, "label": "leukoencephalopathy with vanishing white matter", "isLeaf": false, "isRoot": false, "parents": [ 18952 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060868", "GARD:0000231", "MEDGEN:347037", "NCIT:C122664", "OMIMPS:603896", "Orphanet:135", "SCTID:447351004", "UMLS:C1858991" ], "synonyms": [ "childhood ataxia with diffuse central nervous system hypomyelination", "leukoencephalopathy with vanishing white matter", "myelinosis centralis diffusa", "Cree leukoencephalopathy", "CACH syndrome", "CACH/VWM", "CACH/VWM syndrome", "VWM", "childhood ataxia with central nervous system hypomyelination/vanishing white matter", "childhood ataxia with central nervous system hypomyelinization", "leukoencephalopathy with vanishing WHITE matter", "vanishing White matter leukodystrophy", "vanishing White matter leukodystrophy with ovarian failure", "vanishing white matter disease", "vanishing white matter leukodystrophy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a recessive autosomal mode of inheritance, (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes \"foamy'' aspect." }, "child_count": 9, "reference_id": "MONDO:0800448" }, { "id": 25384, "label": "leukodystrophy, hypomyelinating, 24", "isLeaf": true, "isRoot": false, "parents": [ 18952 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070406", "GARD:0026678", "MEDGEN:1805365", "OMIM:619851", "UMLS:C5676974" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859242" }, { "id": 25388, "label": "leukodystrophy, childhood-onset, remitting", "isLeaf": true, "isRoot": false, "parents": [ 18952 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026680", "MEDGEN:1804145", "OMIM:619864", "UMLS:C5676979" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859246" }, { "id": 25504, "label": "leukodystrophy, hypomyelinating, 25", "isLeaf": true, "isRoot": false, "parents": [ 18952 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070401", "GARD:0026724", "MEDGEN:1840911", "OMIM:620243", "UMLS:C5830275" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859378" }, { "id": 25518, "label": "leukodystrophy, hypomyelinating, 26, with chondrodysplasia", "isLeaf": true, "isRoot": false, "parents": [ 18952 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070403", "GARD:0026733", "MEDGEN:1840948", "OMIM:620269", "UMLS:C5830312" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859518" }, { "id": 25816, "label": "adult-onset progressive leukoencephalopathy-early-onset deafness", "isLeaf": true, "isRoot": false, "parents": [ 18952 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026925", "MEDGEN:1859137", "Orphanet:652532", "UMLS:C5921954" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare genetic neurological disorder characterized by congenital or early-onset sensorineural deafness and adult-onset progressive leukoencephalopathy. Progressive cognitive impairment and behavioral abnormalities are observed in the second or third decade of life, sometimes preceded by mild developmental delay and learning difficulties. Visual impairment in adult age has been reported. No central nervous system calcification is reported." }, "child_count": 0, "reference_id": "MONDO:0958094" }, { "id": 25880, "label": "leukoencephalopathy, porphyria-related", "isLeaf": true, "isRoot": false, "parents": [ 18952, 24755 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026976", "MEDGEN:1862491", "OMIM:620711", "UMLS:C5935575" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0958226" }, { "id": 26032, "label": "episodic memory defect leukoencephalopathy", "isLeaf": true, "isRoot": false, "parents": [ 18952 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027170", "MEDGEN:1864129", "Orphanet:662229", "UMLS:C5925071" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0971077" }, { "id": 26123, "label": "leukodystrophy, hypomyelinating, 28", "isLeaf": true, "isRoot": false, "parents": [ 18952 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027328", "MEDGEN:1874990", "OMIM:620978", "UMLS:C5975460" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0975833" }, { "id": 26194, "label": "leukodystrophy, demyelinating, adult-onset", "isLeaf": false, "isRoot": false, "parents": [ 18952 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027431" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 1, "reference_id": "MONDO:0976138" }, { "id": 26235, "label": "leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy", "isLeaf": true, "isRoot": false, "parents": [ 18952 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028105", "MEDGEN:1876449", "OMIM:621214", "UMLS:C6012728" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0979226" }, { "id": 26372, "label": "leukoencephalopathy without lacunae, adult-onset", "isLeaf": true, "isRoot": false, "parents": [ 18952 ], "type_id": 0, "properties": { "xrefs": [ "OMIM:621424" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0980752" }, { "id": 26554, "label": "AARS1-related leukoencephalopathy", "isLeaf": false, "isRoot": false, "parents": [ 18952 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027336" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any leukoencephalopathy in which the cause of the disease is a variant in the AARS1 gene." }, "child_count": 3, "reference_id": "MONDO:1010132" } ], "roots": [ { "id": 21292, "label": "inherited neurodegenerative disorder" } ] }