# factor XII deficiency

> Human disease

**Wikidata**: [Q2841213](https://www.wikidata.org/wiki/Q2841213)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Factor_XII_deficiency)  
**Source**: https://4ort.xyz/entity/factor-xii-deficiency


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Factor XII gene alteration in Hageman trait detected by TaqI restriction enzyme
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/50bbe8d0-4feb-43c7-8573-9d7f85c82e54--2020-01-22T17:00:00)
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_50bbe8d0-4feb-43c7-8573-9d7f85c82e54-2020-01-22T170000.000Z)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000131187/MONDO_0009315)
8. [Identifiers.org](https://registry.identifiers.org/registry/doid)
9. Human Phenotype Ontology release 2018-03-08