{"_id":"MONDO:0008752","_version":1,"ctd":{"chemical_related_to_disease":{"cas_registry_number":"60643-86-9","chemical_name":"Vigabatrin","direct_evidence":"therapeutic","mesh_chemical_id":"D020888","pubmed":"10802771","source":"CTD"},"mesh":"D038261","pathway_related_to_disease":[{"inference_gene_symbol":"GFAP","kegg_pathway_id":"hsa04630","pathway_name":"Jak-STAT signaling pathway","source":"CTD"},{"inference_gene_symbol":"GFAP","pathway_name":"Signaling by ERBB4","react_pathway_id":"R-HSA-1236394","source":"CTD"},{"inference_gene_symbol":"GFAP","pathway_name":"Nuclear signaling by ERBB4","react_pathway_id":"R-HSA-1251985","source":"CTD"},{"inference_gene_symbol":"GFAP","pathway_name":"Signal Transduction","react_pathway_id":"R-HSA-162582","source":"CTD"}]},"disease_ontology":{"_license":"https://github.com/DiseaseOntology/HumanDiseaseOntology/blob/master/DO_LICENSE.txt","ancestors":["DOID:10579","DOID:0050736","DOID:331","DOID:0050177","DOID:630","DOID:4","DOID:936","DOID:1443","DOID:863","DOID:7","DOID:0050739"],"children":[],"def":"\"A leukodystrophy that is characterized by the destruction of white matter and the formation of Rosenthal fibers consisting of abnormal clumps of protein that accumulate in astrocytes.\" [url:http\\://en.wikipedia.org/wiki/Alexander_disease, url:http\\://www.ninds.nih.gov/disorders/alexander_disease/alexander_disease.htm, url:http\\://www.omim.org/entry/203450, url:http\\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/56/viewAbstract]","descendants":[],"doid":"DOID:4252","name":"Alexander disease","parents":["DOID:0050736","DOID:10579"],"synonyms":{"exact":["Alexander's disease"]},"xrefs":{"gard":"5774","icd10":"G31.86","mesh":"D038261","mim":"203450","ncit":"C84545","snomedct_us_2025_09_01":"81854007","umls_cui":"C0270726"}},"hpo":[{"clinical_course":[{"biocuration":[{"date":"2009-02-17","name":"HPO:probinson"},{"date":"2022-05-10","name":"HPO:probinson"}],"evidence":"PCS","freq_denominator":21,"freq_numerator":19,"hpo_id":"HP:0003593","hpo_name":"Infantile onset","numeric_freq":0.9047619047619048,"omim_refs":"OMIM:203450","original_disease_id":"OMIM:203450","pmid_refs":"PMID:11138011"},{"biocuration":{"date":"2022-05-10","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":11,"freq_numerator":1,"hpo_id":"HP:0011463","hpo_name":"Childhood onset","numeric_freq":0.09090909090909091,"original_disease_id":"OMIM:203450","pmid_refs":"PMID:11138011"},{"biocuration":{"date":"2022-09-04","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":1,"freq_numerator":1,"hpo_id":"HP:0025710","hpo_name":"Late young adult onset","numeric_freq":1.0,"original_disease_id":"OMIM:203450","pmid_refs":"PMID:17438228"},{"biocuration":{"date":"2022-05-10","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":11,"freq_numerator":2,"hpo_id":"HP:0001522","hpo_name":"Death in infancy","numeric_freq":0.18181818181818182,"original_disease_id":"OMIM:203450","pmid_refs":"PMID:11138011"},{"biocuration":{"date":"2022-05-10","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":11,"freq_numerator":1,"hpo_id":"HP:0003621","hpo_name":"Juvenile onset","numeric_freq":0.09090909090909091,"original_disease_id":"OMIM:203450","pmid_refs":"PMID:11138011"},{"biocuration":{"date":"2022-05-10","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":11,"freq_numerator":5,"hpo_id":"HP:0011421","hpo_name":"Death in adolescence","numeric_freq":0.45454545454545453,"original_disease_id":"OMIM:203450","pmid_refs":"PMID:11138011"},{"biocuration":{"date":"2022-05-10","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":11,"freq_numerator":1,"hpo_id":"HP:0003819","hpo_name":"Death in childhood","numeric_freq":0.09090909090909091,"original_disease_id":"OMIM:203450","pmid_refs":"PMID:11138011"}],"disease_name":"Alexander disease","inheritance":{"biocuration":[{"date":"2009-02-17","name":"HPO:iea"},{"date":"2022-05-10","name":"HPO:probinson"}],"evidence":"PCS","hpo_id":"HP:0000006","hpo_name":"Autosomal dominant inheritance","original_disease_id":"OMIM:203450","pmid_refs":"PMID:11138011"},"omim":"203450","phenotype_related_to_disease":[{"biocuration":[{"date":"2022-09-04","name":"HPO:probinson"},{"date":"2022-09-04","name":"HPO:probinson"}],"evidence":"PCS","freq_denominator":1,"freq_numerator":1,"hpo_id":"HP:0001310","numeric_freq":1.0,"original_disease_id":"OMIM:203450","pmid_refs":"PMID:17438228"},{"biocuration":{"date":"2009-02-17","name":"HPO:probinson"},"evidence":"TAS","hpo_id":"HP:0002483","omim_refs":"OMIM:203450","original_disease_id":"OMIM:203450"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0001250","omim_refs":"OMIM:203450","original_disease_id":"OMIM:203450"},{"biocuration":[{"date":"2009-02-17","name":"HPO:probinson"},{"date":"2022-09-04","name":"HPO:probinson"}],"evidence":"PCS","freq_denominator":1,"freq_numerator":1,"hpo_id":"HP:0001251","numeric_freq":1.0,"original_disease_id":"OMIM:203450","pmid_refs":"PMID:17438228"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0004481","omim_refs":"OMIM:203450","original_disease_id":"OMIM:203450"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0007162","omim_refs":"OMIM:203450","original_disease_id":"OMIM:203450"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0000238","omim_refs":"OMIM:203450","original_disease_id":"OMIM:203450"},{"biocuration":{"date":"2009-02-17","name":"HPO:probinson"},"evidence":"TAS","hpo_id":"HP:0002376","omim_refs":"OMIM:203450","original_disease_id":"OMIM:203450"},{"biocuration":[{"date":"2022-09-04","name":"HPO:probinson"},{"date":"2022-09-04","name":"HPO:probinson"}],"evidence":"PCS","freq_denominator":1,"freq_numerator":1,"hpo_id":"HP:0003487","numeric_freq":1.0,"original_disease_id":"OMIM:203450","pmid_refs":"PMID:17438228"},{"biocuration":[{"date":"2022-09-04","name":"HPO:probinson"},{"date":"2022-09-04","name":"HPO:probinson"}],"evidence":"PCS","freq_denominator":1,"freq_numerator":1,"hpo_id":"HP:0001260","numeric_freq":1.0,"original_disease_id":"OMIM:203450","pmid_refs":"PMID:17438228"},{"biocuration":{"date":"2022-09-04","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":1,"freq_numerator":1,"hpo_id":"HP:0010530","numeric_freq":1.0,"original_disease_id":"OMIM:203450","pmid_refs":"PMID:17438228"},{"biocuration":[{"date":"2022-09-04","name":"HPO:probinson"},{"date":"2022-09-04","name":"HPO:probinson"}],"evidence":"PCS","freq_denominator":1,"freq_numerator":1,"hpo_id":"HP:0100321","numeric_freq":1.0,"original_disease_id":"OMIM:203450","pmid_refs":"PMID:17438228"},{"biocuration":[{"date":"2022-09-04","name":"HPO:probinson"},{"date":"2022-09-04","name":"HPO:probinson"}],"evidence":"PCS","freq_denominator":1,"freq_numerator":1,"hpo_id":"HP:0012378","numeric_freq":1.0,"original_disease_id":"OMIM:203450","pmid_refs":"PMID:17438228"},{"biocuration":[{"date":"2022-09-04","name":"HPO:probinson"},{"date":"2022-09-04","name":"HPO:probinson"}],"evidence":"PCS","freq_denominator":1,"freq_numerator":1,"hpo_id":"HP:0025492","numeric_freq":1.0,"original_disease_id":"OMIM:203450","pmid_refs":"PMID:17438228"},{"biocuration":[{"date":"2022-09-04","name":"HPO:probinson"},{"date":"2022-09-04","name":"HPO:probinson"}],"evidence":"PCS","freq_denominator":1,"freq_numerator":1,"hpo_id":"HP:0012043","numeric_freq":1.0,"original_disease_id":"OMIM:203450","pmid_refs":"PMID:17438228"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0002922","omim_refs":"OMIM:203450","original_disease_id":"OMIM:203450"},{"biocuration":[{"date":"2022-09-04","name":"HPO:probinson"},{"date":"2022-09-04","name":"HPO:probinson"}],"evidence":"PCS","freq_denominator":1,"freq_numerator":1,"hpo_id":"HP:0002329","numeric_freq":1.0,"original_disease_id":"OMIM:203450","pmid_refs":"PMID:17438228"},{"biocuration":[{"date":"2022-09-04","name":"HPO:probinson"},{"date":"2022-09-04","name":"HPO:probinson"}],"evidence":"PCS","freq_denominator":1,"freq_numerator":1,"hpo_id":"HP:0000741","numeric_freq":1.0,"original_disease_id":"OMIM:203450","pmid_refs":"PMID:17438228"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0001257","omim_refs":"OMIM:203450","original_disease_id":"OMIM:203450"}]},{"disease_name":"Alexander disease","orphanet":"58","phenotype_related_to_disease":[{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000256","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0001249","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0001250","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0001257","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0001274","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0001347","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0001355","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0001508","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0002007","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0002017","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0002167","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0002169","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0002353","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0002360","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0002650","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0007256","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0100729","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000496","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000508","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000639","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000651","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000712","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000716","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000975","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001251","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001260","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001288","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001337","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001618","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0002015","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0002019","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0002045","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0002381","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0002445","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0002514","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0002615","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0002808","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0010535","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0010628","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0100247","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000218","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000238","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000470","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000819","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000821","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000822","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000826","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000938","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001252","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001324","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001645","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002072","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002093","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002376","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002383","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002410","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002607","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0003307","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0007481","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0012332","orphanet_refs":"orphanet:58"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0100716","orphanet_refs":"orphanet:58"}]}],"mondo":{"ancestors":["MONDO:0024237","MONDO:0005559","MONDO:0700096","MONDO:7770009","MONDO:0000001","MONDO:0005071","MONDO:7770006","MONDO:0002602","MONDO:0003847","MONDO:0019046","MONDO:0100545","MONDO:7770008"],"children":["MONDO:0018209","MONDO:0018210"],"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. [Orphanet:58]","descendants":["MONDO:0018209","MONDO:0018210"],"has_material_basis_in_germline_mutation_in":{"http":["http://identifiers.org/hgnc/4235"]},"label":"Alexander disease","mondo":"MONDO:0008752","parents":["MONDO:0019046"],"synonym":{"exact":["Alexander disease","AxD"],"related":["alexanders leukodystrophy","ALXDRD","megalencephaly in infancy accompanied by progressive spasticity and dementia"]},"xrefs":{"doid":["DOID:4252"],"gard":["0005774"],"icd11":["foundation:2023359698"],"medgen":["78724"],"mesh":["D038261"],"nando":["2200835","1200554"],"ncit":["C84545"],"nord":["749"],"omim":["203450"],"orphanet":["58"],"sctid":["81854007"],"umls":["C0270726"]}},"original_id":"orphanet:58","umls":{"_license":"https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html","icd10cm":{"preferred":"G31.86"},"mesh":{"non-preferred":"D038261","preferred":"D038261"},"nci":{"preferred":"C84545"},"snomed":{"non-preferred":"81854007","preferred":"81854007"},"umls":"C0270726"}}