Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly (SRTD19)

Alias:
Srtd19
Dysplasia, Thoracic, Short-Rib, Type 19 with/without Polydactyly
Short-Rib Thoracic Dysplasia 19 Without Polydactyly
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly, is also known as srtd19. An important gene associated with Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly is IFT81 (Intraflagellar Transport 81). Affiliated tissues include pancreas and liver, and related phenotypes are prominent occiput and dolichocephaly
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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1
5
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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Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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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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