Name
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Synonmys
DERMATAN SULFATE PROTEOGLYCAN ,
EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES; EDSSLA ,
EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, FORMERLY; EDSP1, FORMERLY ,
GALACTOSYLTRANSFERASE I DEFICIENCY ,
PDS, DEFECTIVE BIOSYNTHESIS OF ,
PROTEODERMATAN SULFATE, DEFECTIVE BIOSYNTHESIS OF ,
XGPT DEFICIENCY ,
XYLOSYLPROTEIN 4-BETA-GALACTOSYLTRANSFERASE DEFICIENCY
Classification
unclassified
Associated Genes
B4GALT7
(Withdrawn symbols:
XGALT-1,
beta4Gal-T7
)
Mouse Orthologs
Source
OMIM:130070 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)