Disease #03902 (EDSSPD2 (Ehlers-Danlos, spondylodysplastic syndrome, type 2 (EDSSPD2)), OMIM:615349)
Official abbreviation |
EDSSPD2 |
Name |
Ehlers-Danlos, spondylodysplastic syndrome, type 2 (EDSSPD2) |
OMIM ID |
615349 |
Human Phenotype Ontology Project (HPO) |
HPO |
Inheritance |
Autosomal recessive |
Individuals reported having this disease |
17 |
Phenotype entries for this disease |
- |
Associated with 1 gene |
B3GALT6 |
Associated tissues |
- |
Disease features |
- |
Remarks |
- |
Date created |
2014-09-25 23:29:40 +02:00 (CEST) |
Date last edited |
2021-12-10 21:51:32 +01:00 (CET) |
Individuals
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