- C1 inhibitor deficiency [DOID:0060002]
A complement deficiency that is a functional deficiency in the complement component C1 inhibitor leading to hereditary angioedema (HAE) involving swelling due to leakage of fluid from blood vessels into connective tissue.
- vitamin K deficiency bleeding [DOID:11249]
A nutritional deficiency disease that is characterized by easy bleeding due to an inability to form blood clots caused by vitamin K deficiency, occurs most commonly in newborns, and has_material_basis_in deficiency of vitamin K secondary to liver prematurity, lack of vitamin K in a breastmilk diet, largely sterile gut, malabsorption, diarrhea, chronic illness, menorrhagia, chronic kidney disease, and some medications.
- hereditary combined deficiency of vitamin K-dependent clotting factors [DOID:0112172]
A blood coagulation disease characterized by reduced hepatic gamma-carboxylation of glutamic acid residues of all vitamin K-dependent blood coagulation factors and the anticoagulant factors protein C and protein S resulting in a bleeding tendency that is usually reversed by oral administration of vitamin K that has_material_basis_in a heritable mutation.
- X-linked chondrodysplasia punctata 1 [DOID:0060292]
A chondrodysplasia punctata that is characterized by maxillary hypoplasia, stippled chondrodystrophy, flat nasal tip and short columella, has_material_basis_in X-linked recessive inheritance, has_material_basis_in deficiency of arylsulfatase E. and is associated with associated with vitamin K-related teratogenicity.
- dystonia 12 [DOID:0090056]
A dystonia that is characterized by asymmetric dystonia and parkinsonism with abrupt onset in young adulthood that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the alpha-3 subunit of the N,K-ATPase (ATP1A3) on chromosome 19q13.