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Cono-Spondylar Dysplasia

Alias:
Short Stature-Kyphosis-Hypoplasia of Basal Ilia-Cone Epiphyses-Facial Dysmorphism Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Cono-Spondylar Dysplasia, also known as short stature-kyphosis-hypoplasia of basal ilia-cone epiphyses-facial dysmorphism syndrome, is related to brachydactyly and osteochondrodysplasia. Affiliated tissues include bone, and related phenotypes are hypotonia and dysostosis multiplex
Related ID：
MALACARDS：CNS012

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
--
--
--
CNS012

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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