loading...| Preferred Name |
Autosomal dominant keratitis |
|
| Synonyms |
Autosomal dominant keratitis (disorder) |
|
| Definitions |
Opacification and vascularization of the cornea, often associated with macula hypoplasia. The prevalence is unknown. The syndrome is transmitted in an autosomal dominant manner and is associated with mutations in the PAX6 gene. The presence of macular hypoplasia and iris anomalies in some familial cases suggest that in these cases the disease may be a form of aniridia. |
|
| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/715339004 |
|
| Active |
1 |
|
| altLabel |
Autosomal dominant keratitis (disorder) Hereditary keratitis |
|
| CASE SIGNIFICANCE ID |
900000000000448009 |
|
| CTV3ID |
XUt3m |
|
| cui |
C1835698 |
|
| definition |
Opacification and vascularization of the cornea, often associated with macula hypoplasia. The prevalence is unknown. The syndrome is transmitted in an autosomal dominant manner and is associated with mutations in the PAX6 gene. The presence of macular hypoplasia and iris anomalies in some familial cases suggest that in these cases the disease may be a form of aniridia. Opacification and vascularisation of the cornea, often associated with macula hypoplasia. The prevalence is unknown. The syndrome is transmitted in an autosomal dominant manner and is associated with mutations in the PAX6 gene. The presence of macular hypoplasia and iris anomalies in some familial cases suggest that in these cases the disease may be a form of aniridia. |
|
| DEFINITION STATUS ID |
900000000000073002 |
|
| Effective time |
20160731 |
|
| Has associated morphology | ||
| Has finding site | ||
| notation |
715339004 |
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| Occurs in | ||
| prefLabel |
Autosomal dominant keratitis |
|
| Subset member |
447562003~MAPRULE~TRUE 6011000124106~MAPGROUP~1 447562003~MAPTARGET~H16.8 900000000000508004~ACCEPTABILITYID~900000000000549004 447562003~MAPGROUP~1 447562003~CORRELATIONID~447561005 6011000124106~MAPADVICE~ALWAYS H16.8 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 900000000000508004~ACCEPTABILITYID~900000000000548007 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 900000000000497000~MAPTARGET~XUt3m 6011000124106~MAPPRIORITY~1 6011000124106~MAPTARGET~H16.8 6011000124106~CORRELATIONID~447561005 447562003~MAPADVICE~ALWAYS H16.8 6011000124106~MAPRULE~TRUE 900000000000509007~ACCEPTABILITYID~900000000000549004 |
|
| tui |
T047 |
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| Type ID |
900000000000003001 900000000000013009 |
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| subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/66091009 http://purl.bioontology.org/ontology/SNOMEDCT/5888003 |