{"Name":"Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly","DiseaseID__c":"GARD:0009921","id":9921,"encodedName":"polycystic-lipomembranous-osteodysplasia-with-sclerosing-leukoencephaly","IsDeleted":false,"Disease_Name_Full__c":"Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly","Xref_IDs__c":"702347001; C1857316; DOID:0090112; MEDGEN:387795; MONDO:0009092; OMIMPS:221770; ORPHA:2770","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009092","Disease_Description__c":"Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is 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.","GARD_Name__c":"Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly","GARD_Synonym__c":"brain-bone-fat disease; dementia, prefrontal, with bone cysts; dementia, progressive, with lipomembranous polycystic osteodysplasia; nasu-hakola disease; nhd; plo-sl; plosl; plosl - polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (plosl); presenile dementia with bone cysts; progressive dementia with lipomembranous polycystic osteodysplasia; brain-bone-fat disease","Curated_Disease_Description_Source__c":"MONDO:0009092","Curated_Disease_Description__c":"Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, commonly known as PLOSL, is a progressive disorder that affects the bones and brain.  'Polycystic lipomembranous osteodysplasia' refers to cyst-like bone changes that can be seen on x-rays.  'Sclerosing leukoencephalopathy' describes specific changes in the brain that are found in people with this disorder. The bone abnormalities associated with PLOSL usually become apparent in a person's twenties.  In most affected individuals, pain and tenderness in the ankles and feet are the first symptoms of the disease.  Several years later, broken bones (fractures) begin to occur frequently, particularly in the bones of the ankles, feet, wrists, and hands.  Bone pain and fractures are caused by thinning of the bones (osteoporosis) and cysts in the bones.  These abnormalities weaken bones and make them more likely to break. The brain abnormalities characteristic of PLOSL typically appear in a person's thirties. Personality changes are among the first noticeable problems, followed by a loss of judgment, feelings of intense happiness (euphoria), a loss of inhibition, and poor concentration. These neurologic changes cause significant problems in an affected person's social and family life.  As the disease progresses, it causes a severe decline in thinking and reasoning abilities (dementia). Affected people ultimately become unable to walk, speak, or care for themselves. People with this disease usually live only into their thirties or forties.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:2770","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0009092","ORPHANET_ID__c":"ORPHA:2770","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de nasu-hakola","Spanish_Description_Source__c":"ORPHA:2770","Spanish_Description__c":"La enfermedad de Nasu-Hakola (NHD), también denominada como osteodisplasia poliquística lipomembranosa con leudoencefalopatía esclerosante (PLOSL), es una leucodistrofia hereditaria poco frecuente que se caracteriza por una demencia presenil progresiva asociada con fracturas de huesos recurrentes debido a lesiones óseas poliquísticas de las extremidades inferiores y superiores.","Spanish_Disease_Name__c":"enfermedad de nasu-hakola","Spanish_GARD_Synonym__c":"nhd; osteodisplasia poliquística lipomembranosa con leudoencefalopatía esclerosante; plo-sl; plosl","Category_Linearization__c":"ORPHA:93419","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, commonly known as PLOSL, is a progressive disorder that affects the bones and brain.  'Polycystic lipomembranous osteodysplasia' refers to cyst-like bone changes that can be seen on x-rays.  'Sclerosing leukoencephalopathy' describes specific changes in the brain that are found in people with this disorder. The bone abnormalities associated with PLOSL usually become apparent in a person's twenties.  In most affected individuals, pain and tenderness in the ankles and feet are the first symptoms of the disease.  Several years later, broken bones (fractures) begin to occur frequently, particularly in the bones of the ankles, feet, wrists, and hands.  Bone pain and fractures are caused by thinning of the bones (osteoporosis) and cysts in the bones.  These abnormalities weaken bones and make them more likely to break. The brain abnormalities characteristic of PLOSL typically appear in a person's thirties. Personality changes are among the first noticeable problems, followed by a loss of judgment, feelings of intense happiness (euphoria), a loss of inhibition, and poor concentration. These neurologic changes cause significant problems in an affected person's social and family life.  As the disease progresses, it causes a severe decline in thinking and reasoning abilities (dementia). Affected people ultimately become unable to walk, speak, or care for themselves. People with this disease usually live only into their thirties or forties.","Curated_Disease_Description_Source__c":"MONDO:0009092","GARD_Synonym__c":"brain-bone-fat disease; dementia, prefrontal, with bone cysts; dementia, progressive, with lipomembranous polycystic osteodysplasia; nasu-hakola disease; nhd; plo-sl; plosl; plosl - polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (plosl); presenile dementia with bone cysts; progressive dementia with lipomembranous polycystic osteodysplasia; brain-bone-fat disease","Name":"Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alex The Leukodystrophy Charity","Website__c":"https://www.alextlc.org"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Psychiatry","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Leukodystrophy","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Leukodystrophies are a group of genetic neurological diseases that affect the white matter of the brain and spinal cord.","curated_tag_name":"Leukodystrophies"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:2770"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:2770"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1857316"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009921","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1197","Source__c":"Gene Review","Xref__c":"NBK1197"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0090112","Source__c":"MONDO:0009092","Xref__c":"DOID:0090112"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=387795","Source__c":"C1857316","Xref__c":"MEDGEN:387795"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS221770","Source__c":"MONDO:0009092","Xref__c":"OMIMPS:221770"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=702347001","Source__c":"C1857316; MONDO:0009092","Xref__c":"702347001"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1857316","Source__c":"C1857316","Xref__c":"C1857316"},{"URL__c":"https://www.orpha.net/en/disease/detail/2770","Source__c":"C1857316; MONDO:0009092; ORPHA:2770","Xref__c":"ORPHA:2770"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009092","Source__c":"GARD:0009921","Xref__c":"MONDO:0009092"},{"URL__c":"https://medlineplus.gov/genetics/condition/polycystic-lipomembranous-osteodysplasia-with-sclerosing-leukoencephalopathy","Source__c":"GARD:0009921","Xref__c":"https://medlineplus.gov/genetics/condition/polycystic-lipomembranous-osteodysplasia-with-sclerosing-leukoencephalopathy"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TREM2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/trem2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TYROBP","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tyrobp","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2770","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increase in size of the ventricular system of the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002119","HPO_Synonym__c":"Cerebral ventricular dilatation; Dilated cerebral ventricle; Dilated cerebral ventricles; Dilated ventricles; Enlarged cerebral ventricles; Enlarged ventricles; Enlarged ventricular system; Large cerebral ventricles and cisternae; Ventricular dilatation","HPO_Name__c":"Ventriculomegaly","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2770","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in the freedom of movement of one or more joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001376","HPO_Synonym__c":"Decreased joint mobility; Decreased mobility of joints; Limitation of joint mobility; Limited joint mobility; Limited joint motion","HPO_Name__c":"Limitation of joint mobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2770","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal functionality of the gastrointestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012719","HPO_Synonym__c":"Functional abnormality of the GI tract; GI dysfunction","HPO_Name__c":"Functional abnormality of the gastrointestinal tract","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2770","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A general term describing features characterized by abnormal development of bones and connective tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002652","HPO_Name__c":"Skeletal dysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2770","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002653","HPO_Synonym__c":"Bone pain","HPO_Name__c":"Bone pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2770","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Loss of developmental skills, as manifested by loss of developmental milestones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002376","HPO_Synonym__c":"Loss of acquired milestones; Loss of developmental milestones; Loss of milestones; Mental deterioration in childhood; Neurodevelopmental regression; Psychomotor regression; Psychomotor regression beginning in infancy; Psychomotor regression in infants; Psychomotor regression, progressive","HPO_Name__c":"Developmental regression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2770","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An emotional state characterized by negative feelings of heightened frustration, annoyance, or feeling upset, often triggered by internal factors (e.g., fatigue, hunger, unfulfilled desires) or external factors (e.g., social or environmental challenges). Irritability may be unpredictable, and is accompanied by a lowered threshold for emotional reactivity and observable features (speech, facial expressions, or psychomotor activity).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000737","HPO_Synonym__c":"Cranky; Easily annoyed; Easily bothered; Easily upset; Grumpy; Hot-temper; Irritability; Irritable; Irritable mood; On edge; Quick-temper; Short fuse; Short tempered","HPO_Name__c":"Irritability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2770","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Alteration or impairment in the processing or interpretation of sensory information can lead to abnormal perceptions or experiences.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010524","HPO_Synonym__c":"Agnosia","HPO_Name__c":"Disturbed sensory perception","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2770","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal shift in patterns of thinking, acting, or feeling.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000751","HPO_Synonym__c":"Personality change; Personality changes","HPO_Name__c":"Personality changes","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2770","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Joint pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002829","HPO_Synonym__c":"Arthralgias; Joint pain","HPO_Name__c":"Arthralgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2770","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100022","HPO_Synonym__c":"Abnormality of movement; Movement disorder; Unusual movement","HPO_Name__c":"Abnormality of movement","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2770","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000727","HPO_Name__c":"Frontal lobe dementia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2770","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001257","HPO_Synonym__c":"Involuntary muscle stiffness, contraction, or spasm; Muscle spasticity; Muscular spasticity","HPO_Name__c":"Spasticity","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2770","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced ability to control, or a failure to resist a temptation, urge, or impulse. Examples include disregard for social conventions, general impulsivity, and poor risk assessment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000734","HPO_Synonym__c":"Impulse control disorders; Lack of self-control","HPO_Name__c":"Disinhibition","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2770","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality in the sound (volume) or cadence (rate) of speech.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002167","HPO_Synonym__c":"Abnormal speech; Abnormal vocalization; Abnormality of speech or vocalization","HPO_Name__c":"Abnormal speech pattern","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2770","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A fluid filled cavity that develops with a bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012062","HPO_Synonym__c":"Bone cyst; Bone cysts","HPO_Name__c":"Bone cyst","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2770","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of calcium deposition within the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002514","HPO_Synonym__c":"Abnormal deposits of calcium in the brain","HPO_Name__c":"Cerebral calcification","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2770","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Atrophy of the cortex of the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002120","HPO_Synonym__c":"Cerebral cortex atrophy; Cortical atrophy; Decrease in size of the outer layer of the brain due to loss of brain cells","HPO_Name__c":"Cerebral cortical atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2770","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009124","HPO_Synonym__c":"Abnormality of adipose tissue; Abnormality of fat tissue; Abnormality of fatty tissue","HPO_Name__c":"Abnormal adipose tissue morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2770","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005930","HPO_Synonym__c":"Abnormal shape of end part of bone; Abnormality of epiphysis morphology; Abnormality of the epiphyses; Anomaly of the epiphyses; Epiphyseal abnormality","HPO_Name__c":"Abnormal epiphysis morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2770","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002072","HPO_Synonym__c":"Choreic movements; Choreiform movements","HPO_Name__c":"Chorea","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2770","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004349","HPO_Synonym__c":"Decreased bone mineral density; Decreased bone mineral density Z score; Low solidness and mass of the bones","HPO_Name__c":"Reduced bone mineral density","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2770","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002354","HPO_Synonym__c":"Amnesia; Forgetfulness; Memory impairment; Memory loss; Memory problems; Poor memory","HPO_Name__c":"Memory impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2770","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000708","HPO_Synonym__c":"Behavioral abnormality; Behavioral changes; Behavioral disorders; Behavioral disturbances; Behavioral problems; Behavioral symptoms; Behavioral/psychiatric abnormalities; Behavioural symptoms; Behavioural/Psychiatric abnormality; Psychiatric disorders; Psychiatric disturbances","HPO_Name__c":"Atypical behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2770","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000238","HPO_Synonym__c":"Hydrocephaly; Nonsyndromal hydrocephalus; Too much cerebrospinal fluid in the brain","HPO_Name__c":"Hydrocephalus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2770","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancelation of the vestibulo-ocular reflex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000657","HPO_Synonym__c":"Ocular motor apraxia","HPO_Name__c":"Oculomotor apraxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2770","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2770","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002488","HPO_Synonym__c":"Acute leukemias","HPO_Name__c":"Acute leukemia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Leukodystrophy"],"Disease Category":["Genetics","Neurology","Congenital Abnormality","Leukodystrophy"],"Specialist":["Genetics","Neurology","Psychiatry","Orthopedics","Pediatrics"],"Account":["Leukodystrophy"]},"synonyms":["brain-bone-fat disease"," dementia, prefrontal, with bone cysts"," dementia, progressive, with lipomembranous polycystic osteodysplasia"," nasu-hakola disease"," nhd"," plo-sl"," plosl"," plosl - polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy"," polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy"," polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (plosl)"," presenile dementia with bone cysts"," progressive dementia with lipomembranous polycystic osteodysplasia"," brain-bone-fat disease"]}