Osteolysis Syndrome, Recessive

Alias:
Osteolysis, Distal, with Short Stature, Mental Retardation, and Characteristic Facial Appearance
Distal Osteolysis-Short Stature-Intellectual Disability Syndrome
Autosomal Recessive Distal Osteolysis Syndrome
Petit-Fryns Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Osteolysis Syndrome, Recessive, is also known as osteolysis, distal, with short stature, mental retardation, and characteristic facial appearance. Affiliated tissues include bone and skin, and related phenotypes are abnormality of the dentition and short stature

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
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1

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

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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
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