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Ehlers-Danlos syndrome, progeroid form MeSH Supplementary Concept Data 2024


MeSH Supplementary
Ehlers-Danlos syndrome, progeroid form
Unique ID
C536201
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C536201
Entry Term(s)
Galactosyltransferase 1 deficiency
Galactosyltransferase I Deficiency
Progeroid variant of Ehlers-Danlos syndrome
Proteodermatan sulfate, defective biosynthesis of
Xylosylprotein 4-beta-galactosyltransferase deficiency
Registry Number
0
Heading Mapped to
*Ehlers-Danlos Syndrome
Frequency
3
Note
mutation in B4GALT7
Date of Entry
2010/08/25
Revision Date
2012/11/05
Ehlers-Danlos syndrome, progeroid form Preferred
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