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Dyssegmental Dysplasia, Rolland-Desbuquois Type (DDRD)

Alias:
Anisospondylic Camptomicromelic Dwarfism, Rolland-Desbuquois Type
Dyssegmental Dwarfism, Rolland-Desbuquois Type
Dna Damage Response Deficiency
Ddrd
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Dyssegmental Dysplasia, Rolland-Desbuquois Type, is also known as anisospondylic camptomicromelic dwarfism, rolland-desbuquois type. Affiliated tissues include bone and prostate, and related phenotypes are hydrocephalus and short neck
Related ID：
MALACARDS：DYS179
OMIM：224400

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Antenatal
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9
DYS179

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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Phase
No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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