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Experimental Factor Ontology
| Preferred Name | congenital factor XI deficiency | |
| Synonyms |
factor 11 deficiency factor XI deficiency F11 deficiency Rosenthal factor deficiency Rosenthal's disease hereditary factor XI deficiency congenital factor XI deficiency hemophilia C factor XI deficiency, autosomal recessive factor XI deficiency, autosomal dominant plasma thromboplastin antecedent deficiency Rosenthal syndrome PTA deficiency hereditary Factor XI deficiency haemophilia C hereditary factor XI deficiency disease |
|
| 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 |
SCTID:49762007 NCIT:C84705 OMIM:612416 UMLS:C0015523 icd11.foundation:413739466 MEDGEN:8770 Orphanet:329 DOID:2229 GARD:9670 ICD9:286.2
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|
| 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.
|
|
| exactMatch |
http://identifiers.org/snomedct/49762007 http://identifiers.org/medgen/8770 http://purl.obolibrary.org/obo/DOID_2229 http://www.orpha.net/ORDO/Orphanet_329 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/413739466 |
|
| has_exact_synonym |
Rosenthal factor deficiency Rosenthal's disease hereditary factor XI deficiency congenital factor XI deficiency hemophilia C factor XI deficiency, autosomal recessive factor XI deficiency, autosomal dominant plasma thromboplastin antecedent deficiency Rosenthal syndrome PTA deficiency hereditary Factor XI deficiency haemophilia C hereditary factor XI deficiency disease
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|
| has_related_synonym |
factor 11 deficiency factor XI deficiency F11 deficiency
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|
| IAO_0000233 |
https://github.com/monarch-initiative/mondo/issues/5537 |
|
| id |
MONDO:0012897
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disorder http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare http://purl.obolibrary.org/obo/mondo#otar |
|
| label |
congenital factor XI deficiency
|
|
| notation |
MONDO:0012897
|
|
| preferred label |
congenital factor XI deficiency
|
|
| prefLabel |
congenital factor XI deficiency
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|
| see also |
https://rarediseases.info.nih.gov/diseases/9670/factor-xi-deficiency |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0020587 http://purl.obolibrary.org/obo/MONDO_0000429 http://purl.obolibrary.org/obo/MONDO_0002243 |
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