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Metadata
ID DOID:0050802
Name Ehlers-Danlos syndrome spondylodysplastic type 2
Definition An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene.
http://www.nlm.nih.gov/medlineplus/ency/article/001468.htm
Xrefs

OMIM:615349

ORDO:75496

SNOMEDCT_US_2023_03_01:720861000

UMLS_CUI:C1869122

Subsets

DO_rare_slim

Synonyms

defective biosynthesis of proteodermatan sulfate [RELATED]

Ehlers-Danlos syndrome progeroid type [EXACT]

EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 [EXACT]

XGPT deficiency [RELATED]

xylosylprotein 4-beta-galactosyltransferase deficiency [RELATED]

Parent Relationships

is_a Ehlers-Danlos syndrome

is_a autosomal recessive disease

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