Monogenic Disease

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Annotated Information

Classification and Resources

ID 63
ICD-10
ICD-9-CM
OMIM
SNOMED-CT
Orphanet
MeSH
DO

Defination

A genetic disease that is the result of one or more abnormal alleles and may be dominant (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele).

Synonyms

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Etiology

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Diagnosis

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Symptoms

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Treatment

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Labs working on this disease

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References

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