| Term ID: |
11884 |
| Name: |
Abnormal umbilical stump bleeding |
| Synonym: |
|
| Definition: |
Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth. |
| Comments: |
|
| Reference: |
HP:0011884 |
| Genes and Diseases: | |
Child Nodes: |
Sister Nodes: |
.. Abnormal onset of bleeding (HP:0040231) 
|
..Bleeding requiring red cell transfusion (HP:0011888)
|
..Bleeding with minor or no trauma (HP:0011889)
|
..Cephalohematoma (HP:0012541)
|
..Epistaxis (HP:0000421)
|
..Excessive bleeding after a venipuncture (HP:0030139)
|
..Excessive bleeding from superficial cuts (HP:0030138)
|
..Gingival bleeding (HP:0000225)
|
..Internal hemorrhage (HP:0011029)
|
..Menorrhagia (HP:0000132)
|
..Oral cavity bleeding (HP:0030140)
|
..Persistent bleeding after trauma (HP:0001934)
|
..Prolonged bleeding following procedure (HP:0011890)
|
..Prolonged bleeding time (HP:0003010)
|
..Subcutaneous hemorrhage (HP:0001933)
|
| Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
|---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: | | HP:0011884 | HP:0011884 | Abnormal umbilical stump bleeding | 0 | F10 CL E G H | 2159 | 3528 | ORPHA:328 | Congenital factor X deficiency | HP:0040283 - Occasional | | | 33 | | | | HP:0011884 | HP:0011884 | Abnormal umbilical stump bleeding | 0 | F13A1 CL E G H | 2162 | 3531 | ORPHA:331 | Congenital factor XIII deficiency | HP:0040281 - Very frequent | | | 60 | | | | HP:0011884 | HP:0011884 | Abnormal umbilical stump bleeding | 0 | F13A1 CL E G H | 2162 | 3531 | OMIM:613225 | Factor XIII, A subunit, deficiency of | | | | 60 | | | | HP:0011884 | HP:0011884 | Abnormal umbilical stump bleeding | 0 | F13B CL E G H | 2165 | 3534 | ORPHA:331 | Congenital factor XIII deficiency | HP:0040281 - Very frequent | | | 32 | | | | HP:0011884 | HP:0011884 | Abnormal umbilical stump bleeding | 0 | F13B CL E G H | 2165 | 3534 | OMIM:613235 | Factor XIIIB deficiency | . | | | 32 | | | | HP:0011884 | HP:0011884 | Abnormal umbilical stump bleeding | 0 | F2 CL E G H | 2147 | 3535 | ORPHA:325 | Congenital factor II deficiency | HP:0040283 - Occasional | | | 44 | | | | HP:0011884 | HP:0011884 | Abnormal umbilical stump bleeding | 0 | FGA CL E G H | 2243 | 3661 | OMIM:202400 | Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included | | | | 47 | | | | HP:0011884 | HP:0011884 | Abnormal umbilical stump bleeding | 0 | FGB CL E G H | 2244 | 3662 | OMIM:202400 | Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included | | | | 62 | | | | HP:0011884 | HP:0011884 | Abnormal umbilical stump bleeding | 0 | FGG CL E G H | 2266 | 3694 | OMIM:202400 | Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included | | | | 34 | | | | HP:0011884 | HP:0011884 | Abnormal umbilical stump bleeding | 0 | SERPINF2 CL E G H | 5345 | 9075 | ORPHA:79 | Congenital alpha2-antiplasmin deficiency | HP:0040283 - Occasional | | | 8 | | |
Genes (8) :F10 F13A1 F13B F2 FGA FGB FGG SERPINF2
Diseases (7) :ORPHA:328 ORPHA:331 OMIM:613225 OMIM:613235 ORPHA:325 OMIM:202400 ORPHA:79 |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
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