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Ulna and Fibula, Hypoplasia of

Alias:
Reinhardt-Pfeiffer Mesomelic Dysplasia
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Reinhardt-Pfeiffer Syndrome
Mesomelic Dwarfism of Hypoplastic Ulna and Fibula Type
Mesomelic Dwarfism Reinhardt Pfeiffer Type
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Ulna and Fibula, Hypoplasia of, also known as reinhardt-pfeiffer mesomelic dysplasia, is related to pfeiffer syndrome and leri-weill dyschondrosteosis. Affiliated tissues include bone and skin, and related phenotypes are skin dimple and micromelia
Related ID：
MALACARDS：ULN005
OMIM：191400

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
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1
ULN005

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

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PMID
Journal
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IF
No Data Found!
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