# Pelizaeus-Merzbacher disease

> hypomyelinating leukodystrophy characterized by impaired myelin formation, nystagmus, spastic quadriplegia, ataxia, and developmental delay that has material basis in mutation in the PLP1 gene on chromosome Xq22

**Wikidata**: [Q1876206](https://www.wikidata.org/wiki/Q1876206)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Pelizaeus–Merzbacher_disease)  
**Source**: https://4ort.xyz/entity/pelizaeus-merzbacher-disease


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Freebase Data Dumps. 2013
4. [Source](http://www.patient.co.uk/patientplus/p.htm)
5. UniProt
6. Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein
7. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/9598)
8. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_9598)
9. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c1a44c5f-744e-4d02-a08f-e7c687531b21-2018-03-07T170000.000Z)
10. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000123560/MONDO_0010714)
11. [Identifiers.org](https://registry.identifiers.org/registry/doid)
12. Human Phenotype Ontology release 2018-03-08