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DO Term : congenital amegakaryocytic thrombocytopenia 1 [DOID:0061005] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A congenital amegakaryocytic thrombocytopenia that is characterized by onset of thrombocytopenia and megakaryocytopenia in infancy or early childhood that has_material_basis_in autosomal homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene on chromosome 1p34.
  • synonyms:
  • OMIM:604498,
  • 604498
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents