Short Rib-Polydactyly Syndrome, Verma-Naumoff Type

Alias:
Short Rib-Polydactyly Syndrome Type 3
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type, also known as short rib-polydactyly syndrome type 3, is related to short rib-polydactyly syndrome and polydactyly. An important gene associated with Short Rib-Polydactyly Syndrome, Verma-Naumoff Type is DYNC2H1 (Dynein Cytoplasmic 2 Heavy Chain 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Ciliary landscape. Affiliated tissues include bone and pancreas, and related phenotypes are respiratory insufficiency and short thorax
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Unknown
1-9/100000
11
56
13

Medical Symptom

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

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
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Publications
No data available

References Literature

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PMID
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