Link to this page
Mondo Disease Ontology
| Preferred Name | congenital factor XI deficiency | |
| Synonyms |
factor XI deficiency factor 11 deficiency F11 deficiency hereditary factor XI deficiency disease Rosenthal syndrome factor XI deficiency, autosomal recessive hereditary Factor XI deficiency factor XI deficiency, autosomal dominant haemophilia C Rosenthal's disease Rosenthal factor deficiency congenital factor XI deficiency hemophilia C plasma thromboplastin antecedent deficiency PTA deficiency hereditary factor XI deficiency |
|
| Definitions |
Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0012897 |
|
| curated content resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0012897 |
|
| database_cross_reference |
GARD:9670 ICD9:286.2 icd11.foundation:413739466 DOID:2229 Orphanet:329 OMIM:612416 MEDGEN:8770 UMLS:C0015523 SCTID:49762007 NCIT:C84705
|
|
| definition |
Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery.
|
|
| has_exact_synonym |
hereditary factor XI deficiency disease Rosenthal syndrome factor XI deficiency, autosomal recessive hereditary Factor XI deficiency factor XI deficiency, autosomal dominant haemophilia C Rosenthal's disease Rosenthal factor deficiency congenital factor XI deficiency hemophilia C plasma thromboplastin antecedent deficiency PTA deficiency hereditary factor XI deficiency
|
|
| has_related_synonym |
factor XI deficiency factor 11 deficiency F11 deficiency
|
|
| IAO_0000233 |
https://github.com/monarch-initiative/mondo/issues/5537 |
|
| id |
MONDO:0012897
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#clingen http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder |
|
| label |
congenital factor XI deficiency
|
|
| notation |
MONDO:0012897
|
|
| prefLabel |
congenital factor XI deficiency
|
|
| seeAlso |
https://rarediseases.info.nih.gov/diseases/9670/factor-xi-deficiency |
|
| skos_exactMatch |
http://identifiers.org/snomedct/49762007 http://identifiers.org/medgen/8770 http://purl.obolibrary.org/obo/Orphanet_329 http://purl.obolibrary.org/obo/DOID_2229 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/413739466 |
|
| treeView |
http://purl.obolibrary.org/obo/MONDO_0020587 http://purl.obolibrary.org/obo/MONDO_0000429 http://purl.obolibrary.org/obo/MONDO_0002243 |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0020587 http://purl.obolibrary.org/obo/MONDO_0000429 http://purl.obolibrary.org/obo/MONDO_0002243 |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |