# Hoyeraal-Hreidarsson syndrome

> a rare multisystem disease characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.

**Wikidata**: [Q9390252](https://www.wikidata.org/wiki/Q9390252)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Hoyeraal–Hreidarsson_syndrome)  
**Source**: https://4ort.xyz/entity/hoyeraal-hreidarsson-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita
3. Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1.
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000102977/MONDO_0018045)
5. TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita
6. Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000164362/MONDO_0018045)
8. Constitutional mutations in RTEL1 cause severe dyskeratosis congenita
9. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000258366/MONDO_0018045)
10. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions