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MCID: SPN422
MIFTS: 10
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Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Categories:
Genetic diseases
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OMIM
:
57
Spondyloepimetaphyseal dysplasia of the Di Rocco type (SEMDDR) is characterized by short stature, joint pain, and genu varum, as well as SEMD involving primarily the hips but also affecting the wrists, hands, knees, and ankles. Patients also exhibit variable degrees of metaphyseal and spine involvement (Di Rocco et al., 2018). (617974)
MalaCards based summary : Spondyloepimetaphyseal Dysplasia, Di Rocco Type, is also known as semddr. An important gene associated with Spondyloepimetaphyseal Dysplasia, Di Rocco Type is UFSP2 (UFM1 Specific Peptidase 2). Affiliated tissues include bone. |
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:617974 |
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MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia, Di Rocco Type:41
Bone
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ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia, Di Rocco Type:6
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Search
GEO
for disease gene expression data for Spondyloepimetaphyseal Dysplasia, Di Rocco Type.
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