Disease Browser            Parent Node: progressive myoclonic epilepsy (MONDO:0020074) ..Starting node ..familial encephalopathy with neuroserpin inclusion bodies ()        Child Nodes:  Sister Nodes:  ..action myoclonus-renal failure syndrome () ..adult neuronal ceroid lipofuscinosis () ..early-onset Lafora body disease () ..epilepsy, progressive myoclonic, 1B () ..familial encephalopathy with neuroserpin inclusion bodies () ..infantile neuronal ceroid lipofuscinosis () ..juvenile neuronal ceroid lipofuscinosis () ..Lafora disease () ..late infantile neuronal ceroid lipofuscinosis () ..MERRF syndrome ()    L: 00162; ..progressive myoclonic epilepsy type 3 () ..progressive myoclonic epilepsy type 5 () ..progressive myoclonic epilepsy type 6 () ..progressive myoclonic epilepsy type 7 () ..progressive myoclonic epilepsy type 8 () ..progressive myoclonic epilepsy type 9 () ..Unverricht-Lundborg syndrome ()     MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

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SELECT t5.Variation_Name, t5.GeneID, t5.GeneSymbol, t5.ClinicalSignificance, t5.dbSNP, t5.RCVaccession, t5.TestedInGTR, t5.PhenotypeIDs, t5.Chromosome, t5.Start, t5.Stop, t5.HGVS_c, t5.HGVS_p, t5.HGVS_g, t5.OtherIDs, t5.Diseases as Disease_ClinVar FROM gb_exome.clinvar_variation_v2_latest as t5 WHERE Assembly ='GRCh37' AND (t5.PhenotypeIDs like '%:604218%' OR t5.otherIDs like '%OMIM Allelic Variant:604218%' ) ORDER by GeneSymbol, t5.ClinicalSignificance LIKE 'Patho%' DESC, t5.ClinicalSignificance LIKE '%likely pathog%' DESC, start <1,start;

Term ID:	11412
Name:	familial encephalopathy with neuroserpin inclusion bodies
Definition:
Alternative IDs:	604218
ParentIDs:
TreeNumbers:
Synonyms:	encephalopathy, familial, with Collins bodies; encephalopathy, familial, with neuroserpin inclusion bodies; encephalopathy, familial, with neuroserpin inclusion bodies; FENIB; FENIB
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: 604218; MSeqDR :   Genes: SERPINI1;