Terminology Service for NFDI4Health

factor XI deficiency

Go to external page http://purl.obolibrary.org/obo/DOID_2229


An inherited blood coagulation disease that is characterized by deficiency of factor XI clotting factor and mild prolonged bleeding, especially of mucosal sites following trauma, and has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation of the coagulation factor XI gene of chromosome 4q35.2. [ http://purl.obolibrary.org/obo/ECO_0007637 http://purl.obolibrary.org/obo/ECO_0007636 ]

Term info

Label

factor XI deficiency

Synonyms
  • Congenital factor XI deficiency
  • Hereditary factor XI deficiency disease
  • Rosenthal's disease
  • hemophilia C
  • plasma thromboplastin antecedent deficiency
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Subsets

NCIthesaurus

comment

OMIM mapping confirmed by DO. [SN].

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disease_ontology

id

DOID:2229