loading...| Preferred Name |
Choroideremia |
|
| Synonyms |
Tapetochoroidal dystrophy CHM |
|
| Definitions |
Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_180 |
|
| alternative_term |
Tapetochoroidal dystrophy CHM |
|
| definition |
Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180 |
|
| has_age_of_onset |
Adolescent Adult Childhood |
|
| has_inheritance |
X-linked recessive |
|
| hasDbXref |
ICD-10:H31.2 ICD-11:9B61 MedDRA:10008791 MeSH:D015794 OMIM:303100 UMLS:C0008525 |
|
| label |
Choroideremia |
|
| notation |
ORPHA:180 |
|
| part_of | ||
| prefixIRI |
ORDO:Orphanet_180 |
|
| prefLabel |
Choroideremia |
|
| present_in |
Europe AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 |
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| treeView | ||
| subClassOf |