encephalopathy due to prosaposin deficiency

Summary

encephalopathy due to prosaposin deficiency is a rare disease^[1].

Key Facts

• encephalopathy due to prosaposin deficiency's instance of is recorded as rare disease^[2].
• encephalopathy due to prosaposin deficiency's instance of is recorded as class of disease^[3].
• encephalopathy due to prosaposin deficiency's subclass of is recorded as sphingolipidosis^[4].
• encephalopathy due to prosaposin deficiency's subclass of is recorded as rare genetic epilepsy^[5].
• encephalopathy due to prosaposin deficiency's subclass of is recorded as neurometabolic disease^[6].
• encephalopathy due to prosaposin deficiency's subclass of is recorded as rare dyslipidemia^[7].
• encephalopathy due to prosaposin deficiency's subclass of is recorded as sphingolipidosis with epilepsy^[8].
• encephalopathy due to prosaposin deficiency's MeSH descriptor ID is recorded as C567125^[9].
• encephalopathy due to prosaposin deficiency's OMIM ID is recorded as 611721^[10].
• encephalopathy due to prosaposin deficiency's KEGG ID is recorded as H01239^[11].
• encephalopathy due to prosaposin deficiency's Disease Ontology ID is recorded as DOID:0111330^[12].
• encephalopathy due to prosaposin deficiency's symptoms and signs is recorded as hepatosplenomegaly^[13].
• encephalopathy due to prosaposin deficiency's Orphanet ID is recorded as 139406^[14].
• encephalopathy due to prosaposin deficiency's genetic association is recorded as PSAP^[15].
• encephalopathy due to prosaposin deficiency's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_139406^[16].
• encephalopathy due to prosaposin deficiency's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111330^[17].
• encephalopathy due to prosaposin deficiency's exact match is recorded as http://identifiers.org/doid/DOID:0111330^[18].
• encephalopathy due to prosaposin deficiency's UMLS CUI is recorded as C2673635^[19].
• encephalopathy due to prosaposin deficiency's ICD-10-CM is recorded as E75.2^[20].
• encephalopathy due to prosaposin deficiency's GARD rare disease ID is recorded as 12505^[21].
• encephalopathy due to prosaposin deficiency's Mondo ID is recorded as MONDO_0012719^[22].