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Date: Fri Dec 13 2024
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spondyloepiphyseal dysplasia tarda with characteristic facies
DOID:0112289
Summary
Associated Genes
Associated Alleles
Associated Models
Disease
spondyloepiphyseal dysplasia tarda with characteristic facies
Definition
A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of skeletal dysplasia, microcephaly, unusual facies, and moderate developmental delay.
[1]
Synonyms
None
Cross References
MESH:C564003
MIM:600093
Parent Terms
autosomal recessive disease
spondyloepiphyseal dysplasia tarda
Child Terms
None
Sources of Associations
RGD
MGI
ZFIN
FB
WB
SGD
Associated Genes
No data available
Associated Alleles
No data available
Associated Models
No data available
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