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Thanatophoric Dysplasia, Glasgow Variant

Alias:
Neonatally Lethal Short-Limb Skeletal Dysplasia, Glasgow Type
Thanatophoric Dysplasia Glasgow Variant
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Thanatophoric Dysplasia, Glasgow Variant, is also known as neonatally lethal short-limb skeletal dysplasia, glasgow type. Affiliated tissues include skin, and related phenotypes are cataract and anemia
Related ID：
MALACARDS：THN012
OMIM：273680

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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2
THN012

Medical Symptom

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

Gene & Mutation

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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

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PMID
Journal
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IF
No Data Found!
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