Disease

spondylocostal dysostosis 4

Name: spondylocostal dysostosis 4
Creator: Alliance of Genome Resources
License: CC BY 4.0
Keywords: disease DOID:0112364 spondylocostal dysostosis 4 A spondylocostal dysostosis that has_material_basis_in heterozygous or compound homozygous mutation in the HES7 gene on chromosome 17p13.1. SCDO4 autosomal recessive spondylocostal dysostosis 4

Definition

A spondylocostal dysostosis that has_material_basis_in heterozygous or compound homozygous mutation in the HES7 gene on chromosome 17p13.1.

Synonyms

autosomal recessive spondylocostal dysostosis 4
SCDO4

Cross References

MIM:613686

Parent Terms

autosomal recessive disease
spondylocostal dysostosis

Child Terms

None

Sources of Associations

RGD
MGI
ZFIN
FB
WB
SGD

Associated Genes

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Associated Alleles

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Associated Models

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