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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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
尺骨和腓骨,发育不全,也称为Reinhardt-Pfeiffer中胚层发育不良,与Pfeiffer综合征和Leri-Weill软骨发育不良有关。附属组织包括骨和皮肤,相关表型为皮肤凹陷和微小肢症

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
新生儿
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1

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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