Current Data About
Ehlers-Danlos syndrome progeroid type
(P31) |
(Q929833)
(Q112193867) |
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(P279) |
(Q1141499)
(Q10267817)
|
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(P2293) |
(Q18036459)
(Q18049780)
|
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(P2888) |
http://purl.obolibrary.org/obo/DOID_0050802
http://identifiers.org/doid/DOID:0050802
http://www.orpha.net/ORDO/Orphanet_75496 |
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(P5008) |
(Q4099686)
|
other details
aliases |
EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 defective biosynthesis of proteodermatan sulfate xylosylprotein 4-beta-galactosyltransferase deficiency XGPT deficiency Ehlers-Danlos syndrome, progeroid type Galactosyltransferase 1 Deficiency EDS, progeroid type Galactosyltransferase I deficiency B4GALT7-CDG Proteodermatan Sulfate, Defective Biosynthesis of EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1 Pds, Defective Biosynthesis of EDSP1 Dermatan Sulfate Proteoglycan EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1; EDSP1 PDS Ehlers-Danlos syndrome spondylodysplastic type 2 |
description | Human disease |
External Links
(P486) |
C536201
C536201 |
(P492) |
615349
|
(P665) |
H02239
|
(P699) |
DOID:0050802
|
(P1550) |
75496
|
(P2892) |
C1869122
C4552003 C5680137 |
(P4229) |
Q79.6
|
(P5270) |
MONDO_0007526
|
(P7807) |
962848631
|