{"Name":"Neutral lipid storage disease","DiseaseID__c":"GARD:0003262","id":3262,"encodedName":"neutral-lipid-storage-disease","IsDeleted":false,"Disease_Name_Full__c":"Neutral lipid storage disease","Xref_IDs__c":"C5848057; DOID:0050729; MEDGEN:1853293; MONDO:0015611; ORPHA:165","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0015611","Disease_Description__c":"Neutral lipid storage disease (NLSD) refers to a group of diseases characterized by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: currently cases of NLSD with icthyosis (NLSDI/Dorfman-Chanarin disease; see this term) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy; see this term) can be distinguished.","GARD_Name__c":"Neutral lipid storage disease","GARD_Synonym__c":"lipidosis with triglyceride storage disease","Curated_Disease_Description_Source__c":"MONDO:0015611","Curated_Disease_Description__c":"Neutral lipid storage disease (NLSD) refers to a group of diseases characterized by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: currently cases of NLSD with icthyosis (NLSDI/Dorfman-Chanarin disease; see this term) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy; see this term) can be distinguished.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:165","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015611","ORPHANET_ID__c":"ORPHA:165","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad por depósito de lípidos neutros","Spanish_Description_Source__c":"ORPHA:165","Spanish_Description__c":"El término de enfermedad por depósito de lípidos neutros (NLSD; del inglés: Neutral Lipid Storage Disease), se refiere a un grupo de enfermedades caracterizado por un déficit en la degradación de los triglicéridos citoplasmáticos y su acumulación en las vacuolas lipídicas citplasmáticas en la mayoría de los tejidos del organismo. El grupo es heterogéneo, actualmente puede distinguirse la NLSD con ictiosis (NLSDI/enfermedad de Dorfman-Chanarin; ver este término) y la NLSD con miopatía (NLSDM/miopatía por almacenamiento de lípidos neutros).","Spanish_Disease_Name__c":"enfermedad por depósito de lípidos neutros","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:68367","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":"Neutral lipid storage disease (NLSD) refers to a group of diseases characterized by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: currently cases of NLSD with icthyosis (NLSDI/Dorfman-Chanarin disease; see this term) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy; see this term) can be distinguished.","Curated_Disease_Description_Source__c":"MONDO:0015611","GARD_Synonym__c":"lipidosis with triglyceride storage disease","Name":"Neutral lipid storage disease","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Lysosomal","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Lysosomal storage diseases are a group of genetic metabolic diseases that affect the ability of the body's cells to break down substances and remove toxins.","curated_tag_name":"Lysosomal storage diseases"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:165"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:165"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0268238"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050729","Source__c":"MONDO:0015611","Xref__c":"DOID:0050729"},{"URL__c":"https://www.orpha.net/en/disease/detail/165","Source__c":"C5848057; MONDO:0015611; ORPHA:165","Xref__c":"ORPHA:165"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1853293","Source__c":"C5848057","Xref__c":"MEDGEN:1853293"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5848057","Source__c":"C5848057","Xref__c":"C5848057"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015611","Source__c":"GARD:0003262","Xref__c":"MONDO:0015611"}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Lysosomal"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism","Lysosomal"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Lysosomal"]},"synonyms":["lipidosis with triglyceride storage disease"]}