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Thrombocythemia with Distal Limb Defects

Alias:
Hereditary Thrombocytosis with Transverse Limb Defect
Familial Thrombocytosis with Transverse Limb Defect
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Thrombocythemia with Distal Limb Defects, is also known as hereditary thrombocytosis with transverse limb defect. An important gene associated with Thrombocythemia with Distal Limb Defects is THPO (Thrombopoietin). Affiliated tissues include bone.
Related ID：
MALACARDS：THR121

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
<1/1000000
1
8
--
THR121

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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