# microphthalmia

> eye disease where one or both eyeballs are abnormally small

**Wikidata**: [Q1557239](https://www.wikidata.org/wiki/Q1557239)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Microphthalmia)  
**Source**: https://4ort.xyz/entity/microphthalmia


## References

1. Disease Ontology
2. Human Phenotype Ontology release 2018-03-08
3. Nuovo soggettario
4. Freebase Data Dumps. 2013
5. Monarch Disease Ontology release 2018-06-29
6. Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 cases
7. Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways
8. Mutation in TMEM98 in a large white kindred with autosomal dominant nanophthalmos linked to 17p12-q12.
9. Mutations in SOX2 cause anophthalmia
10. Heterozygous mutations of OTX2 cause severe ocular malformations
11. Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein
12. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000235718/MONDO_0005514)
13. [Identifiers.org](https://registry.identifiers.org/registry/doid)
14. UMLS 2023
15. Quora
16. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)