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Human Disease Ontology
Last uploaded:
December 20, 2024
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| Preferred Name | factor XI deficiency | |
| Synonyms |
plasma thromboplastin antecedent deficiency Rosenthal's disease Congenital factor XI deficiency hemophilia C Hereditary factor XI deficiency disease |
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| Definitions |
A 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. OMIM mapping confirmed by DO. [SN]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_2229 |
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| comment |
OMIM mapping confirmed by DO. [SN].
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| database_cross_reference |
ICD9CM:286.2 SNOMEDCT_US_2023_03_01:49762007 UMLS_CUI:C0015523 MESH:D005173 ICD10CM:D68.1 GARD:9670 MIM:612416 NCI:C84705
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|
| definition |
A 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.
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| has exact synonym |
plasma thromboplastin antecedent deficiency Rosenthal's disease Congenital factor XI deficiency hemophilia C Hereditary factor XI deficiency disease
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| has material basis in | ||
| has symptom | ||
| has_obo_namespace |
disease_ontology
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| id |
DOID:2229
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| in_subset | ||
| label |
factor XI deficiency
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| notation |
DOID:2229
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| prefLabel |
factor XI deficiency
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| subClassOf |
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