Geroderma Osteodysplasticum (GO)

Alias:
Geroderma Osteodysplastica
Gerodermia Osteodysplastica
Walt Disney Dwarfism
Go
Type of Gerodermia Osteodysplastica
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Geroderma Osteodysplasticum, also known as geroderma osteodysplastica, is related to cutis laxa, autosomal dominant 1 and cutis laxa, autosomal dominant 3. An important gene associated with Geroderma Osteodysplasticum is GORAB (Golgin, RAB6 Interacting), and among its related pathways/superpathways are Vesicle-mediated transport and Golgi-to-ER retrograde transport. Affiliated tissues include skin and bone, and related phenotypes are beaking of vertebral bodies and abnormal form of the vertebral bodies
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
34
166
16

Medical Symptom

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

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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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
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