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- Farber_disease abstract "Farber disease (also known as Farber's lipogranulomatosis, ceramidase deficiency, "Fibrocytic dysmucopolysaccharidosis," and "Lipogranulomatosis") is an extremely rare autosomal recessive lysosomal storage disease marked by a deficiency in enzyme ceramidase that causes an accumulation of fatty material lipids leading to abnormalities in the joints, liver, throat, tissues and central nervous system. Normally, the enzyme ceramidase breaks down fatty material in the body’s cells. In Farber Disease, the gene responsible for making this enzyme is mutated. Hence, the fatty material is never broken down and, instead, accumulates in various parts of the body, leading to the signs and symptoms of this disorder.".
- Farber_disease diseasesdb "29174".
- Farber_disease icd10 "E75.2 (ILDS E75.240)".
- Farber_disease icd9 "272.8".
- Farber_disease meshId "D055577".
- Farber_disease omim "228000".
- Farber_disease wikiPageExternalLink www.hideandseek.org.
- Farber_disease wikiPageID "3267592".
- Farber_disease wikiPageRevisionID "540925911".
- Farber_disease diseasesdb "29174".
- Farber_disease hasPhotoCollection Farber_disease.
- Farber_disease icd "272.8".
- Farber_disease icd "E75.2".
- Farber_disease meshid "D055577".
- Farber_disease name "Farber disease".
- Farber_disease omim "228000".
- Farber_disease wordnet_type synset-disease-noun-1.
- Farber_disease subject Category:Autosomal_recessive_disorders.
- Farber_disease subject Category:Lipid_storage_disorders.
- Farber_disease subject Category:Rare_diseases.
- Farber_disease subject Category:Skin_conditions_resulting_from_errors_in_metabolism.
- Farber_disease type Abstraction100002137.
- Farber_disease type Attribute100024264.
- Farber_disease type AutosomalRecessiveDisorders.
- Farber_disease type Condition113920835.
- Farber_disease type Disease114070360.
- Farber_disease type Disorder114052403.
- Farber_disease type IllHealth114052046.
- Farber_disease type Illness114061805.
- Farber_disease type LipidStorageDisorders.
- Farber_disease type PathologicalState114051917.
- Farber_disease type PhysicalCondition114034177.
- Farber_disease type SkinConditionsResultingFromErrorsInMetabolism.
- Farber_disease type State100024720.
- Farber_disease type Disease.
- Farber_disease type AilmentCondition.
- Farber_disease type Situation.
- Farber_disease comment "Farber disease (also known as Farber's lipogranulomatosis, ceramidase deficiency, "Fibrocytic dysmucopolysaccharidosis," and "Lipogranulomatosis") is an extremely rare autosomal recessive lysosomal storage disease marked by a deficiency in enzyme ceramidase that causes an accumulation of fatty material lipids leading to abnormalities in the joints, liver, throat, tissues and central nervous system. Normally, the enzyme ceramidase breaks down fatty material in the body’s cells.".
- Farber_disease label "Enfermedad de Farber".
- Farber_disease label "Farber disease".
- Farber_disease label "Farber-Syndrom".
- Farber_disease label "Maladie de Farber".
- Farber_disease label "Malattia di Farber".
- Farber_disease label "Болезнь Фарбера".
- Farber_disease sameAs Farber-Syndrom.
- Farber_disease sameAs Enfermedad_de_Farber.
- Farber_disease sameAs Maladie_de_Farber.
- Farber_disease sameAs Malattia_di_Farber.
- Farber_disease sameAs m.092bk3.
- Farber_disease sameAs Q1396345.
- Farber_disease sameAs Q1396345.
- Farber_disease sameAs Farber_disease.
- Farber_disease wasDerivedFrom Farber_disease?oldid=540925911.
- Farber_disease isPrimaryTopicOf Farber_disease.
- Farber_disease name "Farber disease".