Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of the common coagulation pathway (HP:0010990)help
Parent Node:
expandReduced factor XIII activity (HP:0008357)help
..Starting node
..expandFactor XIII subunit B deficiency (HP:0040234)help
Term ID: 40234
Name: Factor XIII subunit B deficiency
Synonym: Reduced factor XIII, subunit B
Definition: Deficiency of factor XIII subunit B, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot.
Comments:
Reference: HP:0040234
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandFactor XIII subunit A deficiency (HP:0040233) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0040234HP:0040234Factor XIII subunit B deficiency0F13B CL E G H21653534OMIM:613235Factor XIIIB deficiency32


Genes (1) :F13B

Diseases (1) :OMIM:613235
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.