FlyBase:Human Disease Model Report

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Introduction

General Information

Name The valid full name that is used in FlyBase for the Human Disease Model.
FlyBase ID The Primary FlyBase identifier number of the human disease, used to uniquely identify the Human Disease Model in the database.
Disease Ontology ID Links to Disease Ontology term report in the Vocabularies tool.
Parent Disease Links to parent entity, which describes general and shared information for the phenotypic series. Specific (child) diseases are usually defined by a single causative human gene.
OMIM Links to relevant OMIM phenotype report.
Parent Disease DOID Links to Disease Ontology term report for the Parent Disease in the Vocabularies tool.

Overview

The overview is a brief summary of the Drosophila human disease model, and offers a It includes the FlyBase disease name, the human gene implicated, the Drosophila ortholog(s) of the implicated human gene, the nature of available genetic reagents, whether the human gene has been transgenically expressed, the nature of transgenically expressed human constructs, whether the human gene has been used to heterologously rescue Drosophila loss-of-function phenotypes, the kinds of experiments that have been performed, and whether therapeutic agents have been screened.

Disease Summary Information

Parent Disease Summary

OMIM report field text
Symptoms and phenotype field text
Genetics field text
Cellular phenotype and pathology field text
Molecular information field text
External links field text
Disease synonyms field text

Related Diseases

Related human health report(s) field text

Related Specific Diseases

OMIM phenotypic series Links to relevant OMIM phenotypic series.

A table that consists of four columns:

Disease - Consists of OMIM symbol, links to OMIM phenotype report.

Associated Human gene(s) - Consists of OMIM symbol, links to OMIM genotype report.

Drosophila model - Consists of valid full name that is used in FlyBase for the disease, links to Human Disease Model Report.

Human transgene in Drosophila - "y" or no entry; has the human ortholog been transgenically expressed in flies.

Ortholog Information

Human gene (HGNC) field text
Human gene (FlyBase) field text
D. melanogaster ortholog (based on DIOPT) field text
Comments on ortholog(s) field text
Other mammalian ortholog(s) used field text

D. melanogaster Gene Information

field text

Synthetic Gene(s) Used

field text

Experimental Findings

Summary

field text

Human Disease Wiki (Experimental Findings)

User Contributed Commentary field text

Description of Experiments

Mammalian transgenics: heterologous rescue field text
Mammalian transgenics: transgenic phenotype field text
Mammalian transgenics: interactions field text
Mammalian transgenics: pertubations and treatments field text
Drosophila genes: relevant phenotypes field text
Drosophila genes: interactions field text
Drosophila genes: pertubations and treatments field text
Drosophila recombinant constructs: phenotype or rescue field text
Additional information field text
Proposed mechanisms field text

Summary of Physical Interactions

field text

Alleles Reported to Model Human Disease (Disease Ontology)

field text

Genetic Tools, Stocks and Reagents

Sources of Stocks

Bloomington Stock Center Disease Page field text

Selected mammalian transgenes

A table that consists of three columns:

Allele - field text

Transgene - field text

Publicly Available Stocks - field text

Selected Drosophila transgenes

A table that consists of three columns:

Allele - field text

Transgene - field text

Publicly Available Stocks - field text

RNAi constructs available

A table that consists of three columns:

Allele - field text

Transgene - field text

Publicly Available Stocks - field text

Selected Drosophila classical alleles

A table that consists of four columns:

Allele - field text

Allele class - field text

Mutagen - field text

Publicly Available Stocks - field text

References

field text