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Proximal Symphalangism

Alias:
Symphalangism, Proximal
Symphalangism, Cushing Type
Cushing's Symphalangism
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Proximal Symphalangism, also known as symphalangism, proximal, is related to brachydactyly, type b1 and multiple synostoses syndrome. An important gene associated with Proximal Symphalangism is NOG (Noggin), and among its related pathways/superpathways are ERK Signaling and Akt Signaling. Affiliated tissues include bone and skin, and related phenotypes are camptodactyly of finger and synostosis of carpal bones
Related ID：
MALACARDS：PRX021

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
--
20
149
--
PRX021

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

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
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IF
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