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Pelvis-Shoulder Dysplasia

Alias:
Scapuloiliac Dysostosis
Kosenow Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Pelvis-Shoulder Dysplasia, also known as scapuloiliac dysostosis, is related to dysostosis and contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a. Affiliated tissues include bone, and related phenotypes are multiple skeletal anomalies and hydrocephalus
Related ID：
MALACARDS：PLV015
OMIM：169550

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
<1/1000000
--
--
10
PLV015

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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