# heparin cofactor 2 deficiency

> human disease

**Wikidata**: [Q55783898](https://www.wikidata.org/wiki/Q55783898)  
**Source**: https://4ort.xyz/entity/heparin-cofactor-2-deficiency


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Heparin cofactor IIOslo. Mutation of Arg-189 to His decreases the affinity for dermatan sulfate
4. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/0888745c-f1e6-4af7-bdcd-bd229f043f07--2020-11-18T17:00:00)
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0888745c-f1e6-4af7-bdcd-bd229f043f07-2020-11-18T170000.000Z)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000099937/MONDO_0012876)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)