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Diseases

Autosomal Recessive Spondylocostal Dysostosis

autosomal recessive spondylocostal dysostosis

Entity Type
Diseases
Relation Groups
1
Relation Preview
5

Basic Information

Grouped by core information, identifiers, and descriptions.

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Core Information

Disease Name
Autosomal Recessive Spondylocostal Dysostosis
Standard Disease Name
autosomal recessive spondylocostal dysostosis
MeSH Tree
No data
ICD-10
Q76.8

Identifiers

DO ID
No data
MeSH ID
C535781|C537565
OMIM ID
277300|277300|609813|608681|613686|616566
UMLS ID
C0265343
HPO ID
No data

Description and Extensions

Description
Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobi
Related

Direct relations and traceable candidates grouped by relation type.

Related Targets

target disease5 Targets
03
LFNG
LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase