Disease Browser            Parent Node: unspecified inborn mitochondrial disorder (MONDO:0016803) ..Starting node ..ethylmalonic encephalopathy ()        Child Nodes:  Sister Nodes:  ..ethylmalonic encephalopathy ()    L: 00573; ..mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome ()    L: 00532; ..optic atrophy-peripheral neuropathy-developmental delay syndrome () ..X-linked sideroblastic anemia with ataxia ()     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 '%:602473%' OR t5.otherIDs like '%OMIM Allelic Variant:602473%' ) ORDER by GeneSymbol, t5.ClinicalSignificance LIKE 'Patho%' DESC, t5.ClinicalSignificance LIKE '%likely pathog%' DESC, start <1,start;

Term ID:	11229
Name:	ethylmalonic encephalopathy
Definition:	Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhoea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities.
Alternative IDs:	602473
ParentIDs:
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Synonyms:	EE; eme; encephalopathy, ethylmalonic; encephalopathy, ethylmalonic; EE; encephalopathy, petechiae, and ethylmalonic aciduria; EPEMA syndrome; syndrome of encephalopathy, petechiae, and ethylmalonic aciduria
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: 602473; MSeqDR : 00573;   Genes: ETHE1;