loading...| Preferred Name |
choroideremia |
|
| Synonyms |
TCD Tapetochoroidal dystrophy, progressive progressive tapetochoroidal dystrophy choroidal sclerosis Tapetochoroidal dystrophy choroideremia progressive choroidal atrophy 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://purl.obolibrary.org/obo/MONDO_0010557 |
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| closeMatch | ||
| database_cross_reference |
OMIM:303100 NCIT:C34469 DOID:9821 NORD:932 GARD:6061 UMLS:C0008525 ICD10CM:H31.21 ICD9:363.55 Orphanet:180 MESH:D015794 MedDRA:10008791 SCTID:75241009 |
|
| definition |
Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina. |
|
| exactMatch |
http://purl.bioontology.org/ontology/ICD10CM/H31.21 http://identifiers.org/snomedct/75241009 http://identifiers.org/mesh/D015794 http://linkedlifedata.com/resource/umls/id/C0008525 http://purl.obolibrary.org/obo/NCIT_C34469 |
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| has material basis in germline mutation in | ||
| has_exact_synonym |
Tapetochoroidal dystrophy choroideremia progressive choroidal atrophy CHM |
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| has_related_synonym |
TCD Tapetochoroidal dystrophy, progressive progressive tapetochoroidal dystrophy choroidal sclerosis |
|
| id |
MONDO:0010557 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disease http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare |
|
| label |
choroideremia |
|
| notation |
MONDO:0010557 |
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| prefLabel |
choroideremia |
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| seeAlso |
https://rarediseases.info.nih.gov/diseases/6061/choroideremia |
|
| treeView |
http://purl.obolibrary.org/obo/MONDO_0000425 http://purl.obolibrary.org/obo/MONDO_0001898 |
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0000425 http://purl.obolibrary.org/obo/MONDO_0001898 |