Matches in DBpedia 2015-10 for { <http://dbpedia.org/resource/Occipital_horn_syndrome> ?p ?o }
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- Occipital_horn_syndrome abstract "Occipital horn syndrome (OHS), formerly considered a variant of Ehlers-Danlos syndrome, is an X-linked recessive connective tissue disorder. It is caused by a deficiency in the transport of the essential mineral copper, associated with mutations in the ATP7A gene. Only about 2/3 of children with OHS are thought to have genetically inherited the disorder; the other 1/3 do not have the disease in their family history. Since the disorder is X-linked recessive the disease affects more males. This is because they do not have a second X chromosome, unlike females, so essentially are lacking the 'backup' copy with proper function. Females are much more likely to be carriers only. For a female to be affected they must carry two defective X chromosomes, not just one. The disorder is considered a milder variant of Menkes disease.".
- Occipital_horn_syndrome icd10 "E83.0".
- Occipital_horn_syndrome omim "304150".
- Occipital_horn_syndrome wikiPageExternalLink br.fcgi?book=gene&part=menkes.
- Occipital_horn_syndrome wikiPageID "442863".
- Occipital_horn_syndrome wikiPageLength "5273".
- Occipital_horn_syndrome wikiPageOutDegree "26".
- Occipital_horn_syndrome wikiPageRevisionID "678990270".
- Occipital_horn_syndrome wikiPageWikiLink ATP7A.
- Occipital_horn_syndrome wikiPageWikiLink Bile.
- Occipital_horn_syndrome wikiPageWikiLink Category:Abnormalities_of_dermal_fibrous_and_elastic_tissue.
- Occipital_horn_syndrome wikiPageWikiLink Category:Copper.
- Occipital_horn_syndrome wikiPageWikiLink Category:Inborn_errors_of_metal_metabolism.
- Occipital_horn_syndrome wikiPageWikiLink Category:Rare_diseases.
- Occipital_horn_syndrome wikiPageWikiLink Category:Syndromes.
- Occipital_horn_syndrome wikiPageWikiLink Category:X-linked_recessive_disorders.
- Occipital_horn_syndrome wikiPageWikiLink Clavicle.
- Occipital_horn_syndrome wikiPageWikiLink Connective_tissue_disease.
- Occipital_horn_syndrome wikiPageWikiLink Connective_tissue_disorder.
- Occipital_horn_syndrome wikiPageWikiLink Copper.
- Occipital_horn_syndrome wikiPageWikiLink Cutis_laxa.
- Occipital_horn_syndrome wikiPageWikiLink Ehlers-Danlos_syndrome.
- Occipital_horn_syndrome wikiPageWikiLink Ehlers–Danlos_syndrome.
- Occipital_horn_syndrome wikiPageWikiLink Elbow.
- Occipital_horn_syndrome wikiPageWikiLink Elbow-joint.
- Occipital_horn_syndrome wikiPageWikiLink Exostoses.
- Occipital_horn_syndrome wikiPageWikiLink Exostosis.
- Occipital_horn_syndrome wikiPageWikiLink Head_of_radius.
- Occipital_horn_syndrome wikiPageWikiLink Hip.
- Occipital_horn_syndrome wikiPageWikiLink Human_pelvis.
- Occipital_horn_syndrome wikiPageWikiLink Human_skeleton.
- Occipital_horn_syndrome wikiPageWikiLink Human_skull.
- Occipital_horn_syndrome wikiPageWikiLink Inborn_errors_of_metal_metabolism.
- Occipital_horn_syndrome wikiPageWikiLink List_of_cutaneous_conditions.
- Occipital_horn_syndrome wikiPageWikiLink Menkes_disease.
- Occipital_horn_syndrome wikiPageWikiLink Occipital_bone.
- Occipital_horn_syndrome wikiPageWikiLink Pelvis.
- Occipital_horn_syndrome wikiPageWikiLink Radial_head.
- Occipital_horn_syndrome wikiPageWikiLink X-linked_recessive.
- Occipital_horn_syndrome wikiPageWikiLink X-linked_recessive_inheritance.
- Occipital_horn_syndrome wikiPageWikiLinkText "Occipital horn syndrome".
- Occipital_horn_syndrome wikiPageWikiLinkText "occipital horn syndrome".
- Occipital_horn_syndrome diseasesdb "33413".
- Occipital_horn_syndrome hasPhotoCollection Occipital_horn_syndrome.
- Occipital_horn_syndrome icd "E83.0".
- Occipital_horn_syndrome name "Occipital horn syndrome".
- Occipital_horn_syndrome omim "304150".
- Occipital_horn_syndrome wikiPageUsesTemplate Template:Inborn_errors_of_metal_metabolism.
- Occipital_horn_syndrome wikiPageUsesTemplate Template:Infobox_disease.
- Occipital_horn_syndrome wikiPageUsesTemplate Template:RareDiseases.
- Occipital_horn_syndrome wikiPageUsesTemplate Template:Reflist.
- Occipital_horn_syndrome wikiPageUsesTemplate Template:X-linked_disorders.
- Occipital_horn_syndrome subject Category:Abnormalities_of_dermal_fibrous_and_elastic_tissue.
- Occipital_horn_syndrome subject Category:Copper.
- Occipital_horn_syndrome subject Category:Inborn_errors_of_metal_metabolism.
- Occipital_horn_syndrome subject Category:Rare_diseases.
- Occipital_horn_syndrome subject Category:Syndromes.
- Occipital_horn_syndrome subject Category:X-linked_recessive_disorders.
- Occipital_horn_syndrome hypernym 039;.
- Occipital_horn_syndrome type Disease.
- Occipital_horn_syndrome type Disorder.
- Occipital_horn_syndrome type Element.
- Occipital_horn_syndrome type Error.
- Occipital_horn_syndrome type Syndrome.
- Occipital_horn_syndrome type Thing.
- Occipital_horn_syndrome type Q12136.
- Occipital_horn_syndrome comment "Occipital horn syndrome (OHS), formerly considered a variant of Ehlers-Danlos syndrome, is an X-linked recessive connective tissue disorder. It is caused by a deficiency in the transport of the essential mineral copper, associated with mutations in the ATP7A gene. Only about 2/3 of children with OHS are thought to have genetically inherited the disorder; the other 1/3 do not have the disease in their family history. Since the disorder is X-linked recessive the disease affects more males.".
- Occipital_horn_syndrome label "Occipital horn syndrome".
- Occipital_horn_syndrome sameAs Syndrome_de_la_corne_occipitale.
- Occipital_horn_syndrome sameAs m.029256.
- Occipital_horn_syndrome sameAs Q3508729.
- Occipital_horn_syndrome sameAs Q3508729.
- Occipital_horn_syndrome wasDerivedFrom Occipital_horn_syndrome?oldid=678990270.
- Occipital_horn_syndrome isPrimaryTopicOf Occipital_horn_syndrome.
- Occipital_horn_syndrome name "Occipital horn syndrome".