Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type

Alias:
Lethal Short Limb Skeletal Dysplasia Al Gazali Type
Dysplastic Cortical Hyperostosis, Al-Gazali Type
Short Limb Dwarfism Al Gazali Type
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type, is also known as lethal short limb skeletal dysplasia al gazali type. An important gene associated with Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type is ADAMTSL2 (ADAMTS Like 2). Affiliated tissues include bone, and related phenotypes are macrocephaly and opacification of the corneal stroma

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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1
5
3

Medical Symptom

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

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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

References Literature

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PMID
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