RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
A 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. (DO)
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, atypical DNA:missense mutation:cds:p.A246T (human) ClinVar Annotator: match by OMIM:312080 ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, atypical, UMLS MESH term: Atypical Pelizaeus Merzbacher Disease ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, connatal ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, mild CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, connatal ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, mild ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, atypical
DNA:duplication:cds (human) ClinVar Annotator: match by term: Leukodystrophy, Adult-Onset ClinVar Annotator: match by term: Leukodystrophy, adult-onset, autosomal dominant