# Adams-Oliver syndrome

> syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs

**Wikidata**: [Q351708](https://www.wikidata.org/wiki/Q351708)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Adams–Oliver_syndrome)  
**Source**: https://4ort.xyz/entity/adams-oliver-syndrome


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Freebase Data Dumps. 2013
4. BBC Things
5. Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000163378/MONDO_0007034)
7. RBPJ mutations identified in two families affected by Adams-Oliver syndrome
8. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000168214/MONDO_0007034)
9. Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome
10. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000128917/MONDO_0007034)
11. Mutations in NOTCH1 cause Adams-Oliver syndrome
12. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000148400/MONDO_0007034)
13. Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome
14. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000130158/MONDO_0007034)
15. Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies
16. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000031081/MONDO_0007034)
17. BabelNet
18. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)