WormMine: OntologyRelation

• Relationship: is_a
• Parent Term . Identifier: DOID:630
• Child Term . Identifier: DOID:0111667
• Direct: false
• Redundant: false

1 Child Term

• Identifier: DOID:0111667
• Name: enterokinase deficiency
• Description: An intestinal disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption that has_material_basis_in homozygous or compound heterozygous mutation in the TMPRSS15 gene on chromosome 21q21.1.

1 Parent Term

• Identifier: DOID:630
• Name: genetic disease
• Description: A disease that has_material_basis_in genetic variations in the human genome.