loading...| Preferred Name |
Leber Congenital Amaurosis |
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| Synonyms |
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| Definitions |
A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness. |
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| ID |
http://www.phoc.org.cn/pmo/class/PMO_00037133 |
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| Database_Cross_Reference |
MTH:NOCODE SNOMEDCT_US:193413001 NDFRT:N0000181128 MSH:D057130 MDR:10070667 JABL:394 OMIM:MTHU020281 RCD:F427J CHV:0000030532 CSP:1114-9698 MEDCIN:312948 DO:DOID:14791 NCI:C129075 |
|
| Definition |
A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness. |
|
| label |
Leber Congenital Amaurosis |
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| MCID |
MC00118269 |
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| PMOID |
PMO:00037133 |
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| prefixIRI |
pmo:PMO_00037133 |
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| prefLabel |
Leber Congenital Amaurosis |
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| Synonym |
Leber Congenital Amaurosis [Disease/Finding] Amaurosis, Leber Congenital Leber abiotrophy Abiotrophies, Leber Leber's disease dysgenesis neuroepithelialis retinae Blindness, Congenital Retinal heredoretinopathia congenitalis Amauroses, Leber Congenital Leber congenital tapetoretinal degeneration Leber Abiotrophies Leber Congenital Tapetoretinal Degeneration Amauroses, Leber's Leber's Amaurosis Leber's congenital amaurosis (diagnosis) leber's amaurosis Congenital Retinal Blindnesses amaurosis congenital lebers CRB - Congen retinal blindness Congenital Retinal Blindness congenital retinitis pigmentosa Leber's amaurosis Leber Abiotrophy Congenital Amaurosis, Leber congenital retinal blindness LCA Retinal Blindnesses, Congenital Leber disease 2 amaurosis leber's congenital Leber's Amauroses Abiotrophy, Leber Leber congenital amaurosis (LCA) Leber's amaurosis (disorder) Leber's congenital amaurosis Congenital Amauroses, Leber hereditary epithelial dysplasia of retina CRB - Congenital retinal blindness congenital amaurosis of retinal origin hereditary retinal aplasia leber's disease Blindnesses, Congenital Retinal Leber Amaurosis Congenital retinal blindness Leber congenital amaurosis Amaurosis, Leber's Lebers Amaurosis Leber amaurosis amaurosis congenita of Leber Leber Congenital Amauroses leber's congenital amaurosis congenital retinal blindness (CRB) leber congenital amaurosis |
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| Tree Number |
T9.8.4.54.12 T9.2.23.12 T9.2.2.13 |
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| subClassOf |
http://www.phoc.org.cn/pmo/class/PMO_00036594 |