# Wolfram syndrome

> rare disease in which a human simultaneously has diabetes insipidus, diabetes, optic nerve atrophy and deafness syndrome

**Wikidata**: [Q1153641](https://www.wikidata.org/wiki/Q1153641)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Wolfram_syndrome)  
**Source**: https://4ort.xyz/entity/wolfram-syndrome


## References

1. [Source](https://ddrare.nibiohn.go.jp/)
2. Disease Ontology
3. Monarch Disease Ontology release 2018-06-29
4. Freebase Data Dumps. 2013
5. A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000145354/MONDO_0018105)
7. Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein
8. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/1e81eeda-4dd0-431c-ad52-90304fb761c8--2018-09-11T18:54:09)
9. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1e81eeda-4dd0-431c-ad52-90304fb761c8-2018-09-11T185409.174Z)
10. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000109501/MONDO_0018105)
11. [Identifiers.org](https://registry.identifiers.org/registry/doid)
12. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)