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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Anemia, Hemolytic, Congenital (D000745)
..Starting node ..Anemia, Hemolytic, Congenital Nonspherocytic (D000746)
Child Nodes:
........Adenosine Triphosphatase Deficiency, Anemia Due To (C566311)
........Anemia, Nonspherocytic Hemolytic, associated with Abnormality of Red Cell Membrane (C565953)
........Anemia, Nonspherocytic Hemolytic, possibly due to Defect in Porphyrin Metabolism (C565952)
........Pyruvate Kinase Deficiency of Red Cells (C564858)
........Triosephosphate Isomerase Deficiency (C566029)
Sister Nodes:
..Anemia, Dyserythropoietic, Congenital (D000742) 5
..Anemia, Hemolytic, Congenital Nonspherocytic (D000746) 5
..Anemia, hereditary spherocytic hemolytic (C536356)
..Anemia, Sickle Cell (D000755) 3
..Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema (C566369)
..Elliptocytosis, Hereditary (D004612) 11
..Glucosephosphate Dehydrogenase Deficiency (D005955) 3
..Heinz Body Anemias (C563030)
..Hemoglobin C Disease (D006445) 1
..Hemolytic Anemia, Congenital, with Emphysema and Cutis Laxa (C562629)
..Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities (C563935)
..HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY (OMIM:613470)
..Red cell phospholipid defect with hemolysis (C535298)
..Rh-Null Disease, Amorph Type (C566210)
..Spherocytosis, Hereditary (D013103) 5
..Stomatocytosis I (C566111)
..Stomatocytosis II (C566110)
..Thalassemia (D013789) 16
..Transient erythroblastopenia of childhood (C536980)
..Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to (C564859)
..Xerocytosis, hereditary (C536764)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	630
Name:	Anemia, Hemolytic, Congenital Nonspherocytic
Definition:	Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in GLUCOSE-6-PHOSPHATE ISOMERASE; PYRUVATE KINASE; and GLUCOSE-6-PHOSPHATE DEHYDROGENASE.
Alternative IDs:
ParentIDs:	MESH:D000745
TreeNumbers:	C15.378.071.141.150.100 \|C16.320.070.100
Synonyms:	Anemia, Congenital Nonspherocytic Hemolytic \|Anemia, Hemolytic Congenital, Nonspherocytic \|Congenital Nonspherocytic Hemolytic Anemia \|Hemolytic Anemia, Congenital Nonspherocytic
Slim Mappings:	Blood disease\|Genetic disease (inborn)
Reference:	MedGen: D000746 MeSH: D000746 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants