Disease Browser            Parent Node: congenital anemia (MONDO:0000577) Parent Node: unspecified inborn mitochondrial disorder (MONDO:0016803) Parent Node: X-linked cerebellar ataxia (MONDO:0016612) Parent Node: X-linked sideroblastic anemia (MONDO:0010419) ..Starting node ..X-linked sideroblastic anemia with ataxia ()        Child Nodes:  Sister Nodes:  ..X-linked sideroblastic anemia 1 () ..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 '%:301310%' OR t5.otherIDs like '%OMIM Allelic Variant:301310%' ) ORDER by GeneSymbol, t5.ClinicalSignificance LIKE 'Patho%' DESC, t5.ClinicalSignificance LIKE '%likely pathog%' DESC, start <1,start;

Term ID:	10524
Name:	X-linked sideroblastic anemia with ataxia
Definition:	X-linked sideroblastic anemia and ataxia (XLSA-A) is a rare syndromic, inherited form of sideroblastic anemia (see this term) characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia.
Alternative IDs:	301310
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Synonyms:	anemia sideroblastic and spinocerebellar ataxia; anemia, Sex-linked hypochromic Siderobla; anemia, sideroblastic, and spinocerebellar ataxia; anemia, sideroblastic, and spinocerebellar ataxia; ASAT; ASAT; Pagon Bird Detter syndrome; Pagon-Bird-Detter syndrome; sideroblastic anemia with spinocerebell
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Reference:	MedGen: MeSH: OMIM: 301310; MSeqDR :   Genes: ABCB7;