{"Name":"Pelizaeus Merzbacher like disease","DiseaseID__c":"GARD:0012300","id":12300,"encodedName":"pelizaeus-merzbacher-like-disease","IsDeleted":false,"Disease_Name_Full__c":"Pelizaeus Merzbacher like disease","Xref_IDs__c":"717042001; C4274084; MEDGEN:894734; MONDO:0017226; ORPHA:280270","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0017226","Disease_Description__c":"Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD; see this term).","GARD_Name__c":"Pelizaeus Merzbacher like disease","GARD_Synonym__c":"pelizaeus-merzbacher-like disease; pmld; pmld - pelizaeus merzbacher like disease","Curated_Disease_Description_Source__c":"MONDO:0017226","Curated_Disease_Description__c":"Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:280270","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017226","ORPHANET_ID__c":"ORPHA:280270","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad similar a pelizaeus-merzbacher","Spanish_Description_Source__c":"ORPHA:280270","Spanish_Description__c":"La enfermedad tipo Pelizaeus-Merzbacher (PMLD) es una leucodistrofia autosómica recesiva que comparte idénticas características clínicas y radiológicas con la enfermedad de Pelizaeus-Merzbacher (PMD) ligada al X (consulte este término).","Spanish_Disease_Name__c":"enfermedad similar a pelizaeus-merzbacher","Spanish_GARD_Synonym__c":"enfermedad de pelizaeus-merzbacher-like; pmld","Category_Linearization__c":"ORPHA:93890","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":"Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD).","Curated_Disease_Description_Source__c":"MONDO:0017226","GARD_Synonym__c":"pelizaeus-merzbacher-like disease; pmld; pmld - pelizaeus merzbacher like disease","Name":"Pelizaeus Merzbacher like disease","estimateUsa":""}],"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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:280270"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:280270"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=717042001","Source__c":"C4274084; MONDO:0017226","Xref__c":"717042001"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=894734","Source__c":"C4274084","Xref__c":"MEDGEN:894734"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4274084","Source__c":"C4274084","Xref__c":"C4274084"},{"URL__c":"https://www.orpha.net/en/disease/detail/280270","Source__c":"C4274084; MONDO:0017226; ORPHA:280270","Xref__c":"ORPHA:280270"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017226","Source__c":"GARD:0012300","Xref__c":"MONDO:0017226"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MAL","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics","Leukodystrophy"],"Disease Category":["Genetics","Neurology","Leukodystrophy"],"Specialist":["Genetics","Neurology","Pediatrics"],"Account":["Leukodystrophy"]},"synonyms":["pelizaeus-merzbacher-like disease"," pmld"," pmld - pelizaeus merzbacher like disease"]}