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Disease association ontology term - MONDO:0009332 - congenital hematological disorder

Term summary

ID
MONDO:0009332
Name
congenital hematological disorder
Ontology or CV name
Disease association
Definition
A disorder of the blood that is present at birth.

Parents

Annotation

Disease association

MONDO:0010480 - anemia, nonspherocytic hemolytic, due to G6PD deficiency

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MONDO:0008963 - Chediak-Higashi syndrome

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MONDO:0009134 - congenital dyserythropoietic anemia type 2

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MONDO:0007109 - congenital dyserythropoietic anemia type 3

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MONDO:0014118 - congenital neutropenia-myelofibrosis-nephromegaly syndrome

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MONDO:0006506 - congenital nonspherocytic hemolytic anemia

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MONDO:0019391 - Fanconi anemia

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MONDO:0013248 - Fanconi anemia complementation group O

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MONDO:0013499 - Fanconi anemia complementation group P

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MONDO:0014108 - Fanconi anemia complementation group Q

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MONDO:0014986 - Fanconi anemia complementation group R

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MONDO:0014987 - Fanconi anemia complementation group U

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MONDO:0014985 - Fanconi anemia complementation group V

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MONDO:0009259 - gamma-glutamylcysteine synthetase deficiency

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MONDO:0009284 - glutathione synthetase deficiency without 5-oxoprolinuria

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MONDO:0013275 - hemolytic anemia due to glucophosphate isomerase deficiency

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MONDO:0019531 - hemolytic anemia due to glutathione reductase deficiency

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MONDO:0011997 - Hermansky-Pudlak syndrome 2

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MONDO:0012465 - hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

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MONDO:0009953 - leukocyte adhesion deficiency type II

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MONDO:0014757 - macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome

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MONDO:0024553 - myopathy, lactic acidosis, and sideroblastic anemia 1

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MONDO:0013307 - myopathy, lactic acidosis, and sideroblastic anemia 2

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MONDO:0957809 - neutropenia, severe congenital, 10, autosomal recessive

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MONDO:0958017 - neutropenia, severe congenital, 11, autosomal dominant

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MONDO:0980936 - neutropenia, severe congenital, 12, autosomal recessive

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MONDO:0032899 - neutropenia, severe congenital, 8, autosomal dominant

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MONDO:0030726 - neutropenia, severe congenital, 9, autosomal dominant

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MONDO:0009340 - non-spherocytic hemolytic anemia due to hexokinase deficiency

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MONDO:0011405 - poikiloderma with neutropenia

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MONDO:0012559 - primary immunodeficiency syndrome due to p14 deficiency

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MONDO:0009950 - pyruvate kinase deficiency of red cells

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MONDO:0018542 - severe congenital neutropenia

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MONDO:0010121 - thrombocytopenia-absent radius syndrome

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MONDO:0010294 - X-linked severe congenital neutropenia

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