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- Ocular_albinism_type_1 abstract "Ocular Albinism type 1 (OA1), also called as Nettleship-Falls syndrome, is the most common type of Ocular Albinism with a prevalence rate of 1:50,000. It is an inheritable classical Mendelian type X-linked recessive disorder wherein the retinal pigment epithelium lacks pigment while hair and skin appear normal. Since it is an X-linked disorder, it occurs mostly in males, while females are carriers unless they are homozygous. About 60 missense and nonsense mutations, insertions and deletions have been identified in Oa1. Mutations in OA1 have been linked to defective glycosylation and thus improper intracellular transportation.".
- Ocular_albinism_type_1 icd10 "E70.3".
- Ocular_albinism_type_1 meshId "D016117".
- Ocular_albinism_type_1 omim "300500".
- Ocular_albinism_type_1 wikiPageExternalLink br.fcgi?book=gene&part=x-oa.
- Ocular_albinism_type_1 wikiPageID "19894764".
- Ocular_albinism_type_1 wikiPageLength "26214".
- Ocular_albinism_type_1 wikiPageOutDegree "24".
- Ocular_albinism_type_1 wikiPageRevisionID "698559528".
- Ocular_albinism_type_1 wikiPageWikiLink Albinism.
- Ocular_albinism_type_1 wikiPageWikiLink Astigmatism_(eye).
- Ocular_albinism_type_1 wikiPageWikiLink Category:Amino_acid_metabolism_disorders.
- Ocular_albinism_type_1 wikiPageWikiLink Category:Diseases_of_the_eye_and_adnexa.
- Ocular_albinism_type_1 wikiPageWikiLink Category:X-linked_recessive_disorders.
- Ocular_albinism_type_1 wikiPageWikiLink Edward_Nettleship.
- Ocular_albinism_type_1 wikiPageWikiLink Embryogenesis.
- Ocular_albinism_type_1 wikiPageWikiLink Endoplasmic_reticulum.
- Ocular_albinism_type_1 wikiPageWikiLink Fovea_centralis.
- Ocular_albinism_type_1 wikiPageWikiLink G_protein–coupled_receptor.
- Ocular_albinism_type_1 wikiPageWikiLink Golgi_apparatus.
- Ocular_albinism_type_1 wikiPageWikiLink Harold_Falls.
- Ocular_albinism_type_1 wikiPageWikiLink Iris_(anatomy).
- Ocular_albinism_type_1 wikiPageWikiLink Melanin.
- Ocular_albinism_type_1 wikiPageWikiLink Melanocyte.
- Ocular_albinism_type_1 wikiPageWikiLink Melanosome.
- Ocular_albinism_type_1 wikiPageWikiLink Nystagmus.
- Ocular_albinism_type_1 wikiPageWikiLink Ocular_albinism.
- Ocular_albinism_type_1 wikiPageWikiLink Photophobia.
- Ocular_albinism_type_1 wikiPageWikiLink Retinal_pigment_epithelium.
- Ocular_albinism_type_1 wikiPageWikiLink Single-strand_conformation_polymorphism.
- Ocular_albinism_type_1 wikiPageWikiLink Southern_blot.
- Ocular_albinism_type_1 wikiPageWikiLink Strabismus.
- Ocular_albinism_type_1 wikiPageWikiLink X-linked_recessive_inheritance.
- Ocular_albinism_type_1 wikiPageWikiLinkText "Ocular albinism type 1".
- Ocular_albinism_type_1 consensusCds "CCDS14134.1".
- Ocular_albinism_type_1 diseasesdb "29164".
- Ocular_albinism_type_1 emedicinesubj "oph".
- Ocular_albinism_type_1 emedicinetopic "260".
- Ocular_albinism_type_1 genbank "NC_000023".
- Ocular_albinism_type_1 icd "E70.3".
- Ocular_albinism_type_1 medlineplus "1479".
- Ocular_albinism_type_1 meshid "D016117".
- Ocular_albinism_type_1 name "Ocular Albinism type 1".
- Ocular_albinism_type_1 omim "300500".
- Ocular_albinism_type_1 swissprot "P51810".
- Ocular_albinism_type_1 trembl "Q6NTI7".
- Ocular_albinism_type_1 wikiPageUsesTemplate Template:Amino_acid_metabolic_pathology.
- Ocular_albinism_type_1 wikiPageUsesTemplate Template:Infobox_disease.
- Ocular_albinism_type_1 wikiPageUsesTemplate Template:Reflist.
- Ocular_albinism_type_1 wikiPageUsesTemplate Template:X-linked_disorders.
- Ocular_albinism_type_1 subject Category:Amino_acid_metabolism_disorders.
- Ocular_albinism_type_1 subject Category:Diseases_of_the_eye_and_adnexa.
- Ocular_albinism_type_1 subject Category:X-linked_recessive_disorders.
- Ocular_albinism_type_1 type Disease.
- Ocular_albinism_type_1 type Disorder.
- Ocular_albinism_type_1 type Error.
- Ocular_albinism_type_1 type Redirect.
- Ocular_albinism_type_1 type Thing.
- Ocular_albinism_type_1 type Q12136.
- Ocular_albinism_type_1 comment "Ocular Albinism type 1 (OA1), also called as Nettleship-Falls syndrome, is the most common type of Ocular Albinism with a prevalence rate of 1:50,000. It is an inheritable classical Mendelian type X-linked recessive disorder wherein the retinal pigment epithelium lacks pigment while hair and skin appear normal. Since it is an X-linked disorder, it occurs mostly in males, while females are carriers unless they are homozygous.".
- Ocular_albinism_type_1 label "Ocular albinism type 1".
- Ocular_albinism_type_1 sameAs Q7077135.
- Ocular_albinism_type_1 sameAs m.04q1v20.
- Ocular_albinism_type_1 sameAs Q7077135.
- Ocular_albinism_type_1 wasDerivedFrom Ocular_albinism_type_1?oldid=698559528.
- Ocular_albinism_type_1 isPrimaryTopicOf Ocular_albinism_type_1.
- Ocular_albinism_type_1 name "Ocular Albinism type 1".