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Diseases

Spondyloepiphyseal Dysplasia Congenita

spondyloepiphyseal dysplasia congenita

Entity Type
Diseases
Relation Groups
1
Relation Preview
8

Basic Information

Grouped by core information, identifiers, and descriptions.

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Core Information

Disease Name
Spondyloepiphyseal Dysplasia Congenita
Standard Disease Name
spondyloepiphyseal dysplasia congenita
MeSH Tree
No data
ICD-10
Q77.7

Identifiers

DO ID
No data
MeSH ID
C535788
OMIM ID
183900
UMLS ID
C2745959
HPO ID
No data

Description and Extensions

Description
Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.
Related

Direct relations and traceable candidates grouped by relation type.

Related Targets

target disease8 Targets
05
FGFR3
fibroblast growth factor receptor 3
fibroblast growth factor receptor 3
06
GALNS
galactosamine (N-acetyl)-6-sulfatase
galactosamine (N-acetyl)-6-sulfatase