Pelizaeus-Merzbacher disease in female carriers
Go to external page http://purl.obolibrary.org/obo/MONDO_0017224
Pelizaeus-Merzbacher disease (PMD) in female carriers is the presentation of PMD in some women carrying mutations in the PLP1 gene (Xq22). [ Orphanet:280229 ]
This is just here as a test because I lose it
Term information
database
cross reference
- Orphanet:280229 (MONDO:equivalentTo)
- UMLS:C5438815 (MONDO:equivalentTo)
- MEDGEN:1753109 (MONDO:equivalentTo)
- GARD:21075 (MONDO:GARD)
Subsets
gard_rare, otar, ordo_subtype_of_a_disorder, rare, nord_rare
exactMatch
http://identifiers.org/medgen/1753109
http://linkedlifedata.com/resource/umls/id/C5438815
http://www.orpha.net/ORDO/Orphanet_280229