ONTOLOGY REPORT - ANNOTATIONS
Term: Anemia, Hemolytic, Congenital Nonspherocytic
Accession: RDO:0004830
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.
Synonyms: primary_id: MESH:D000746 alt_id: OMIM:190450
Anemia, Hemolytic, Congenital Nonspherocytic
G
G6pd glucose-6-phosphate dehydrogenase
ISS X
160,186,450
160,192,316
RGD:1599812 RGD
G
Gpi glucose-6-phosphate isomerase
ISS 1
86,658,836
86,686,712
RGD:1600633 RGD
G
Hk1 hexokinase 1
ISS
RGD:1601519 RGD
G
Tpi1 triosephosphate isomerase 1
ISS 4
160,933,341
160,936,871
RGD:7240710 OMIM
Pyruvate Kinase Deficiency of Red Cells
G
Pklr pyruvate kinase, liver and RBC
ISS 2
181,214,853
181,223,505
RGD:7240710 OMIM
Term paths to the root one longest all shortest one shortest all one shortest and longest all longest
Path 1
Diseases
30477
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
3907
Genetic Diseases, Inborn
2878
Anemia, Hemolytic, Congenital
70
Anemia, Hemolytic, Congenital Nonspherocytic
5
Adenosine Triphosphatase Deficiency, Anemia Due To
0
Anemia, Nonspherocytic Hemolytic, associated with Abnormality of Red Cell Membrane
0
Anemia, Nonspherocytic Hemolytic, possibly due to Defect in Porphyrin Metabolism
0
Pyruvate Kinase Deficiency of Red Cells
1
Triosephosphate Isomerase Deficiency
0
Path 2
Diseases
30477
Hemic and Lymphatic Diseases
909
Hematologic Diseases
650
Anemia
212
Anemia, Hemolytic
111
Anemia, Hemolytic, Congenital
70
Anemia, Hemolytic, Congenital Nonspherocytic
5
Adenosine Triphosphatase Deficiency, Anemia Due To
0
Anemia, Nonspherocytic Hemolytic, associated with Abnormality of Red Cell Membrane
0
Anemia, Nonspherocytic Hemolytic, possibly due to Defect in Porphyrin Metabolism
0
Pyruvate Kinase Deficiency of Red Cells
1
Triosephosphate Isomerase Deficiency
0
