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Acheiropody (ACHP)

Alias:
Acheiropodia
Horn-Kolb Syndrome
Achp
Acheiropody, Brazilian Type
Acheiropody Brazilian Type
Horn Kolb Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Acheiropody, also known as acheiropodia, is related to syndactyly, type iii and constricting bands, congenital. An important gene associated with Acheiropody is LMBR1 (Limb Development Membrane Protein 1), and among its related pathways/superpathways is Neural Stem Cells and Lineage-specific Markers. Affiliated tissues include bone and lung, and related phenotypes are absent hand and fibular aplasia
Related ID：
MALACARDS：ACH001
OMIM：200500
MESH：D005532

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Antenatal
<1/1000000
9
62
13
ACH001

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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