GFER Syndrome (original) (raw)
GFER Syndrome (also called GFER disease) is a rare mitochondrial disease. GFER was first reported in 2009 and since exome sequencing became more available, few more cases were discovered. In all known cases, the disease progresses with conditions that include: congenital cataracts, loss of motor abilities, development delay, degeneration of organs, sometimes hearing loss, etc.
| Property | Value |
|---|---|
| dbo:abstract | GFER Syndrome (also called GFER disease) is a rare mitochondrial disease. GFER was first reported in 2009 and since exome sequencing became more available, few more cases were discovered. In all known cases, the disease progresses with conditions that include: congenital cataracts, loss of motor abilities, development delay, degeneration of organs, sometimes hearing loss, etc. (en) |
| dbo:thumbnail | wiki-commons:Special:FilePath/Autosomal_recessive_-_en.svg?width=300 |
| dbo:wikiPageID | 57375363 (xsd:integer) |
| dbo:wikiPageLength | 5042 (xsd:nonNegativeInteger) |
| dbo:wikiPageRevisionID | 1084541502 (xsd:integer) |
| dbo:wikiPageWikiLink | dbr:Electron_transport_chain dbr:Mitochondrial_disease dbr:SS-bond dbr:Cytochrome_c dbr:Cytosol dbr:GFER dbr:Nuclear_gene dbr:Apoptosis dbr:Cysteine dbc:Mitochondrial_diseases dbr:Mitochondrial_unfolded_protein_response dbr:Exome_sequencing dbr:Mitochondrial_intermembrane_space |
| dbp:caption | GFER syndrome is inherited via autosomal recessive manner (en) |
| dbp:causes | Caused by a mutation in the nuclear GFER gene (en) |
| dbp:name | GFER syndrome (en) |
| dbp:symptoms | Congenital cataracts, loss of motor abilities, development delay, degeneration of organs, sometimes hearing loss (en) |
| dbp:wikiPageUsesTemplate | dbt:Cn dbt:Infobox_medical_condition_(new) dbt:Reflist dbt:Short_description |
| dcterms:subject | dbc:Mitochondrial_diseases |
| rdf:type | owl:Thing wikidata:Q12136 dbo:Disease |
| rdfs:comment | GFER Syndrome (also called GFER disease) is a rare mitochondrial disease. GFER was first reported in 2009 and since exome sequencing became more available, few more cases were discovered. In all known cases, the disease progresses with conditions that include: congenital cataracts, loss of motor abilities, development delay, degeneration of organs, sometimes hearing loss, etc. (en) |
| rdfs:label | GFER Syndrome (en) |
| owl:sameAs | wikidata:GFER Syndrome dbpedia-he:GFER Syndrome https://global.dbpedia.org/id/5kHAW |
| prov:wasDerivedFrom | wikipedia-en:GFER_Syndrome?oldid=1084541502&ns=0 |
| foaf:depiction | wiki-commons:Special:FilePath/Autosomal_recessive_-_en.svg |
| foaf:isPrimaryTopicOf | wikipedia-en:GFER_Syndrome |
| foaf:name | GFER syndrome (en) |
| is dbo:wikiPageRedirects of | dbr:GFER_disease |
| is dbo:wikiPageWikiLink of | dbr:GFER_disease |
| is foaf:primaryTopic of | wikipedia-en:GFER_Syndrome |
