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Trigonocephaly-Broad Thumbs Syndrome

Alias:
Hunter-Rudd-Hoffmann Syndrome
Hunter Rudd Hoffmann Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Trigonocephaly-Broad Thumbs Syndrome, is also known as hunter-rudd-hoffmann syndrome. An important gene associated with Trigonocephaly-Broad Thumbs Syndrome is HUWE1 (HECT, UBA And WWE Domain Containing E3 Ubiquitin Protein Ligase 1). Affiliated tissues include bone.
Related ID：
MALACARDS：TRG018

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
<1/1000000
1
9
--
TRG018

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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