Abstract is: Ocular albinism is a form of albinism which, in contrast to oculocutaneous albinism, presents primarily in the eyes. There are multiple forms of ocular albinism, which are clinically similar. Both known genes are on the X chromosome. When the term "autosomal recessive ocular albinism" ("AROA") is used, it usually refers to mild variants of oculocutaneous albinism rather than ocular albinism, which is X-linked.
class of disease | Q112193867 |
disease | Q12136 |
eye disease | Q3041498 |
albinism | Q81867 |
P699 | Disease Ontology ID | DOID:0050633 |
P1417 | Encyclopædia Britannica Online ID | topic/ocular-albinism |
P2888 | exact match | http://identifiers.org/doid/DOID:0050633 |
http://purl.obolibrary.org/obo/DOID_0050633 | ||
P7464 | Genetics Home Reference Conditions ID | ocular-albinism |
P494 | ICD-10 | E70.3 |
P7807 | ICD-11 (foundation) | 1147926040 |
P493 | ICD-9 ID | 270.2 |
P3827 | JSTOR topic ID | ocular-albinism |
P665 | KEGG ID | H00169 |
P486 | MeSH descriptor ID | D016117 |
P672 | MeSH tree code | C11.270.040.090 |
C16.320.290.040.090 | ||
C16.320.565.100.102.090 | ||
C16.320.850.080.090 | ||
C17.800.621.440.102.090 | ||
C17.800.827.080.090 | ||
C18.452.648.100.102.090 | ||
P6366 | Microsoft Academic ID | 2779242213 |
P492 | OMIM ID | 300500 |
300500 | ||
P1550 | Orphanet ID | 284804 |
P2892 | UMLS CUI | C0078917 |
P11143 | WikiProjectMed ID | Ocular albinism |
P1995 | health specialty | endocrinology | Q162606 |
P5008 | on focus list of Wikimedia project | WikiProject Medicine | Q4099686 |
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Q67515431 | Carrier detection in X-linked ocular albinism of the Nettleship-Falls type by DNA analysis |
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Q24324227 | Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome |
Q48060444 | Cloning of the murine homolog of the ocular albinism type 1 (OA1) gene: sequence, genomic structure, and expression analysis in pigment cells |
Q73110614 | Congenital iris ectropion associated with ocular albinism, foveal hypoplasia, and keratoconjunctivitis sicca |
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Q70867972 | Congenital nystagmus and ocular albinism |
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Q28140288 | Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1 |
Q57251956 | Deletion analysis maps ocular albinism proximal to the steroid sulphatase locus |
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Q48369793 | Expression of ocular albinism 1 (OA1), 3, 4- dihydroxy- L-phenylalanine (DOPA) receptor, in both neuronal and non-neuronal organs |
Q38306272 | Expression pattern of the ocular albinism type 1 (Oa1) gene in the murine retinal pigment epithelium. |
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Q69013616 | Fundal findings in a female carrier of X-linked ocular albinism |
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Q36832808 | Isolation and characterization of a mouse homolog of the X-linked ocular albinism (OA1) gene. |
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Q37377153 | Ocular Albinism Type 1 Regulates Melanogenesis in Mouse Melanocytes. |
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Q83326968 | The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism |
Q28262213 | The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions |
Q24564241 | The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis |
Q73445493 | The mouse ocular albinism 1 gene product is an endolysosomal protein |
Q24311263 | The ocular albinism type 1 (OA1) G-protein-coupled receptor functions with MART-1 at early stages of melanogenesis to control melanosome identity and composition |
Q35123182 | The ocular albinism type 1 (OA1) GPCR is ubiquitinated and its traffic requires endosomal sorting complex responsible for transport (ESCRT) function |
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Q36200459 | The ocular albinism type 1 (OA1) protein and the evidence for an intracellular signal transduction system involved in melanosome biogenesis |
Q37384037 | The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes |
Q40759297 | The ocular albinism type 1 gene product is an N-glycoprotein but glycosylation is not required for its subcellular distribution |
Q36376328 | The ocular albinism type 1 gene product, OA1, spans intracellular membranes 7 times |
Q28589486 | The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells |
Q52757461 | The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells. |
Q41895369 | The protein Ocular albinism 1 is the orphan GPCR GPR143 and mediates depressor and bradycardic responses to DOPA in the nucleus tractus solitarii |
Q73294051 | Utility of linked markers in genetic counseling: estimation of carrier risks in X-linked ocular albinism |
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Arabic (ar / Q13955) | مهق عيني | wikipedia |
Očni albinizam | wikipedia | |
Ocular albinism | wikipedia | |
Albinismo ocular ligado al cromosoma X | wikipedia | |
Persian (fa / Q9168) | آلبینیسم چشمی | wikipedia |
Albinisme oculaire récessif lié au chromosome X | wikipedia | |
Albinismo ocular | wikipedia | |
Albinism ocular | wikipedia |
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