# hypoprothrombinemia

> Human disease

**Wikidata**: [Q3801629](https://www.wikidata.org/wiki/Q3801629)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Hypoprothrombinemia)  
**Source**: https://4ort.xyz/entity/hypoprothrombinemia


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. NDF-RT
4. UniProt
5. Homozygosity for a novel missense mutation in the prothrombin gene causing a severe bleeding disorder
6. The prothrombin Denver patient has two different prothrombin point mutations resulting in Glu-300-->Lys and Glu-309-->Lys substitutions
7. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/6ba9c4b9-9984-4d31-a9ae-bf638838f201--2020-06-24T16:00:00)
8. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6ba9c4b9-9984-4d31-a9ae-bf638838f201-2020-06-24T160000.000Z)
9. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000180210/MONDO_0013361)
10. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000180210/Orphanet_325)
11. [Identifiers.org](https://registry.identifiers.org/registry/doid)
12. UMLS 2023
13. [Source](https://cdn.who.int/media/docs/default-source/classification/icd/icd-10/icd-10-to-meddra-map---june-2023---codes-mapping.xlsx)
14. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)