Factor Xiii Deficiency
Disease ID: disease_node_3156
Connections displayed (default: 10).
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| Dbxref | GARD:10766, MESH:D005177, MIM:613225, MIM:613235, NCI:C98941, SNOMEDCT_US_2023_03_01:50189006, UMLS_CUI:C0015530 |
|---|---|
| Subclassof | DOID_0050737, DOID_1247 |
| Data Source | DOID, MESH |
| Synonyms | Factor XIII deficiency disease, Hereditary factor XIII deficiency disease, deficiency, Laki-Lorand factor |
| Mesh Id | D005177 |
| Mesh Label | Factor XIII Deficiency |
| Disease Has Feature | DOID_801 |
| Mesh Subclassof | D020147, D025861, D006474 |
| Doid Label | factor XIII deficiency |
| Doid Description | A blood coagulation disease that is characterized by easy bleeding, has_symptom prolonged umbilical cord bleeding, epistaxis, bleeding of the gums, menorrhagia, recurrent miscarriages, abnormal scar formation and wound healing, and hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation of the F13A1 or F13B gene, which encodes Factor XIII, formally known as fibrin stabilizing factor. OMIM mapping confirmed by DO. [SN]. |
| Has Symptom | SYMP_0020021, SYMP_0000742, SYMP_0000007, SYMP_0020020, SYMP_0000448, SYMP_0000756 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_3156 |
| Doid Id | DOID_2211 |
| Label | Factor Xiii Deficiency |
- Outgoing r'ship
HAS_SYMPTOMto/from Bleeding(ID:disease_node_21108) (Disease) - Outgoing r'ship
HAS_SYMPTOMto/from Abnormal Scar Formation(ID:disease_node_21257) (Disease) - Outgoing r'ship
HAS_SYMPTOMto/from Epistaxis(ID:disease_node_2998;disease_node_21658) (Disease) - Outgoing r'ship
HAS_SYMPTOMto/from Gum Bleeding(ID:disease_node_21673) (Disease) - Outgoing r'ship
HAS_SYMPTOMto/from Menorrhagia(ID:disease_node_5150;disease_node_21571) (Disease) - Outgoing r'ship
HAS_SYMPTOMto/from Abnormal Wound Healing(ID:disease_node_21238) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Blood Coagulation Disorders(ID:disease_node_1621) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)