Disease Browser            Parent Node: congenital anemia (MONDO:0000577) Parent Node: constitutional neutropenia with extra-hematopoietic manifestations (MONDO:0018032) Parent Node: constitutional sideroblastic anemia (MONDO:0020099) Parent Node: metabolic disease with intestinal involvement (MONDO:0015188) Parent Node: mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA (MONDO:0016792) Parent Node: syndrome with hypoparathyroidism (MONDO:0015895) ..Starting node ..Pearson syndrome ()        Child Nodes:  Sister Nodes:  ..22q11.2 deletion syndrome () ..Bartter syndrome with hypocalcemia () ..Dahlberg-borer-Newcomer syndrome () ..hypoparathyroidism-deafness-renal disease syndrome () ..hypoparathyroidism-retardation-dysmorphism syndrome () ..Kearns-Sayre syndrome ()    L: 00143; ..Kenny-Caffey syndrome () ..long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ()    L: 00474; ..Pearson syndrome ()    L: 00169;     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 '%:557000%' OR t5.otherIDs like '%OMIM Allelic Variant:557000%' ) ORDER by GeneSymbol, t5.ClinicalSignificance LIKE 'Patho%' DESC, t5.ClinicalSignificance LIKE '%likely pathog%' DESC, start <1,start;

Term ID:	10797
Name:	Pearson syndrome
Definition:	Pearson syndrome is characterized by refractory sideroblastic anemia, vacuolization of bone marrow precursors and exocrine pancreatic dysfunction.
Alternative IDs:	557000
ParentIDs:
TreeNumbers:
Synonyms:	Pearson marrow-pancreas syndrome; Pearson's marrow/pancreas syndrome; Pearson's syndrome; sideroblastic Anemia with marrow cell vacuolization and exocrine pancreatic dysfunction; sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction (formerly)
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: 557000; MSeqDR : 00169;   Genes: