PMC:5097349 / 10509-11668 JSONTXT

{"project":"AxD_symptoms","denotations":[{"id":"T30","span":{"begin":150,"end":164},"obj":"Phenotype"},{"id":"T31","span":{"begin":213,"end":229},"obj":"Phenotype"},{"id":"T32","span":{"begin":265,"end":277},"obj":"Phenotype"},{"id":"T33","span":{"begin":289,"end":297},"obj":"Phenotype"},{"id":"T34","span":{"begin":299,"end":317},"obj":"Phenotype"},{"id":"T35","span":{"begin":411,"end":419},"obj":"Phenotype"},{"id":"T36","span":{"begin":425,"end":433},"obj":"Phenotype"},{"id":"T37","span":{"begin":443,"end":480},"obj":"Phenotype"},{"id":"T38","span":{"begin":501,"end":519},"obj":"Phenotype"},{"id":"T39","span":{"begin":521,"end":529},"obj":"Phenotype"},{"id":"T40","span":{"begin":549,"end":557},"obj":"Phenotype"},{"id":"T41","span":{"begin":655,"end":661},"obj":"Phenotype"},{"id":"T42","span":{"begin":716,"end":729},"obj":"Phenotype"},{"id":"T43","span":{"begin":742,"end":756},"obj":"Phenotype"},{"id":"T44","span":{"begin":765,"end":776},"obj":"Phenotype"},{"id":"T45","span":{"begin":841,"end":859},"obj":"Phenotype"},{"id":"T46","span":{"begin":882,"end":893},"obj":"Phenotype"},{"id":"T47","span":{"begin":895,"end":903},"obj":"Phenotype"},{"id":"T48","span":{"begin":905,"end":927},"obj":"Phenotype"},{"id":"T49","span":{"begin":944,"end":960},"obj":"Phenotype"},{"id":"T50","span":{"begin":981,"end":990},"obj":"Phenotype"},{"id":"T51","span":{"begin":997,"end":1004},"obj":"Phenotype"},{"id":"T52","span":{"begin":1109,"end":1116},"obj":"Phenotype"}],"attributes":[{"id":"A37","pred":"hp_id","subj":"T37","obj":"http://purl.obolibrary.org/obo/HP_0006956"},{"id":"A46","pred":"hp_id","subj":"T46","obj":"http://purl.obolibrary.org/obo/HP_0002354"},{"id":"A42","pred":"hp_id","subj":"T42","obj":"http://purl.obolibrary.org/obo/HP_0000991"},{"id":"A43","pred":"hp_id","subj":"T43","obj":"http://purl.obolibrary.org/obo/HP_0001271"},{"id":"A51","pred":"hp_id","subj":"T51","obj":"http://purl.obolibrary.org/obo/HP_0001297"},{"id":"A38","pred":"hp_id","subj":"T38","obj":"http://purl.obolibrary.org/obo/HP_0000708"},{"id":"A52","pred":"hp_id","subj":"T52","obj":"http://purl.obolibrary.org/obo/HP_0001297"},{"id":"A48","pred":"hp_id","subj":"T48","obj":"http://purl.obolibrary.org/obo/HP_0000924"},{"id":"A34","pred":"hp_id","subj":"T34","obj":"http://purl.obolibrary.org/obo/HP_0100704"},{"id":"A50","pred":"hp_id","subj":"T50","obj":"http://purl.obolibrary.org/obo/HP_0002076"},{"id":"A30","pred":"hp_id","subj":"T30","obj":"http://purl.obolibrary.org/obo/HP_0002415"},{"id":"A36","pred":"hp_id","subj":"T36","obj":"http://purl.obolibrary.org/obo/HP_0000726"},{"id":"A41","pred":"hp_id","subj":"T41","obj":"http://purl.obolibrary.org/obo/HP_0001251"},{"id":"A47","pred":"hp_id","subj":"T47","obj":"http://purl.obolibrary.org/obo/HP_0000726"},{"id":"A49","pred":"hp_id","subj":"T49","obj":"http://purl.obolibrary.org/obo/HP_0002120"},{"id":"A33","pred":"hp_id","subj":"T33","obj":"http://purl.obolibrary.org/obo/HP_0001250"},{"id":"A40","pred":"hp_id","subj":"T40","obj":"http://purl.obolibrary.org/obo/HP_0001250"},{"id":"A31","pred":"hp_id","subj":"T31","obj":"http://purl.obolibrary.org/obo/HP_0002120"},{"id":"A45","pred":"hp_id","subj":"T45","obj":"http://purl.obolibrary.org/obo/HP_0001272"},{"id":"A39","pred":"hp_id","subj":"T39","obj":"http://purl.obolibrary.org/obo/HP_0000726"},{"id":"A35","pred":"hp_id","subj":"T35","obj":"http://purl.obolibrary.org/obo/HP_0002076"},{"id":"A44","pred":"hp_id","subj":"T44","obj":"http://purl.obolibrary.org/obo/HP_0000991"},{"id":"A32","pred":"hp_id","subj":"T32","obj":"http://purl.obolibrary.org/obo/HP_0002273"}],"text":"Disease Clinical presentation Abnormal regions or abnormalities on brain MRI Gene mutations\nX-ALD SP CST, dorsal columns, CC, PWM ABCD1\nMetachromatic leukodystrophy PP, motor impairment bilateral frontal PWM, CC; cortical atrophy ARSA\nKrabbe’s disease (GALC) SP or tetraparesis, PDPN, CD, seizures, cortical blindness Supratentorial, CWM, PT, splenium of CC and optic radiation, CST; CC atrophy GALC\nVWM (CACH) migraine, PP, dementia, PBP, SP enlargement of the lateral ventricles; WM EIF2B\nHDLS/POLD behavioral changes, dementia, motor impairment, epilepsy internal capsules, CST; WM with non-enhancing; frontal lobes atrophy CSF1R\nADLD AS, BBD, OH, PS, ataxia frontoparietal WM, CP, CST, CC LMNB1\nCerebrotendinous xanthomatosis PP, SP, CA, polyneuropathy, tendon xanthomatas dentate nucleus, CWM, CP, PT, PWN, CC, basal ganglia; brain and cerebellar atrophy CYP27A1\nNHD/PLOSL PP, memory loss, dementia, skeletal abnormalities nonspecific WM; cortical atrophy TREM2 DAP12\nCADASIL migraines, TIA, strokes, PP, CD PWM in the centrum semiovale, external capsules and anterior temporal poles NOTCH3\nCARASIL TIA, strokes diffuse WM changes, lacunar infarcts HTRA1"}