loading...| Preferred Name |
choroideremia |
|
| Synonyms |
progressive tapetochoroidal dystrophy Tapetochoroidal dystrophy, progressive choroidal sclerosis TCD progressive choroidal atrophy Tapetochoroidal dystrophy choroideremia 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 |
|
| closeMatch | ||
| database_cross_reference |
ICD9:363.55 ICD10CM:H31.21 NCIT:C34469 MedDRA:10008791 Orphanet:180 SCTID:75241009 MESH:D015794 OMIM:303100 UMLS:C0008525 DOID:9821 GARD:6061 NORD:932 |
|
| 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 |
|
| has_exact_synonym |
progressive choroidal atrophy Tapetochoroidal dystrophy choroideremia CHM |
|
| has_related_synonym |
progressive tapetochoroidal dystrophy Tapetochoroidal dystrophy, progressive choroidal sclerosis TCD |
|
| id |
MONDO:0010557 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disease |
|
| label |
choroideremia |
|
| notation |
MONDO:0010557 |
|
| preferred label |
choroideremia |
|
| prefLabel |
choroideremia |
|
| see also |
https://rarediseases.info.nih.gov/diseases/6061/choroideremia |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0000425 http://purl.obolibrary.org/obo/MONDO_0001898 |