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. 2004 Nov-Dec;11(6):439–447. doi: 10.1197/jamia.M1549
Public Site Presentation Data Element Data Type
What is condition name? Name Free text
Description Free text
Symptoms Free text
Subtype Condition Name Free text
How common is condition name? Statistics Free text
What genes are related to condition name? Mutation Gene Symbol From HUGO nomenclature or LocusLink
Mutation Type Choose from:
    Causes
    Predisposes
    Associated
Etiology Free text
How do people inherit condition name? Inheritance Derived, editable free text
Default values for:
    Unknown pattern
    Autosomal dominant
    Autosomal recessive
    X-Linked
and additional text:
    1 affected parent
    Somatic
    Homozygous
    Predispose
    New mutation
    Inherited or new mutation
    Anticipation
    Carrier
    Environment
    Sometimes Unknown
    X-linked recessive
    X-linked dominant
Where can I find information about condition name? URL Free text
Title Free text
What other names do people use for condition name? Synonym Name: free text
What glossary definitions help with understanding condition name? Glossary concept or synonym Link to glossary
What sources were used to construct this information? URL Free text
Title Free text