Patella Aplasia-Hypoplasia (PTLAH)

Alias:
Patella Aplasia or Hypoplasia
Ptlah
Patella Aplasia/hypoplasia
Rudimentary Patella
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Patella Aplasia-Hypoplasia, also known as patella aplasia or hypoplasia, is related to aniridia and absent patella and nail-patella syndrome. An important gene associated with Patella Aplasia-Hypoplasia is PTLAH (Patella Aplasia-Hypoplasia). Affiliated tissues include bone and skin, and related phenotypes are abnormality of the skin and patellar aplasia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
<1/1000000
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5

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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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
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IF
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