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Atelosteogenesis, Type Ii (AO2)

Alias:
De La Chapelle Dysplasia
Atelosteogenesis Type Ii
Ao2
Atelosteogenesis Type 2
Aoii
Neonatal Osseous Dysplasia Type 1
Neonatal Osseous Dysplasia 1
Atelosteogenesis De La Chapelle Type
Neonatal Osseous Dysplasia Type I
Neonatal Osseous Dysplasia I
Atelosteogenesis, Type 2
Mcalister Dysplasia
Atelosteogenesis Ii
Atelosteogenesis 2
Ao-Ii
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Atelosteogenesis, Type Ii, also known as de la chapelle dysplasia, is related to diastrophic dysplasia and atelosteogenesis. An important gene associated with Atelosteogenesis, Type Ii is SLC26A2 (Solute Carrier Family 26 Member 2). Affiliated tissues include bone and lung, and related phenotypes are limb undergrowth and short neck
Related ID：
MALACARDS：ATL015
OMIM：256050
MESH：D010009

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
2
7
47
ATL015

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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