loading...| Preferred Name |
Progressive cone dystrophy |
|
| Synonyms |
Cone dystrophy |
|
| Definitions |
A rare retinal dystrophy characterized by photophobia, progressive loss of visual acuity, nystagmus, visual field abnormalities, abnormal color vision, and psychophysical and electrophysiological evidence of abnormal cone function. Progressive cone dystrophy usually presents in childhood or early adult life, and patients tend to develop rod photoreceptor dysfunction in later life. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_1871 |
|
| alternative_term |
Cone dystrophy |
|
| definition |
A rare retinal dystrophy characterized by photophobia, progressive loss of visual acuity, nystagmus, visual field abnormalities, abnormal color vision, and psychophysical and electrophysiological evidence of abnormal cone function. Progressive cone dystrophy usually presents in childhood or early adult life, and patients tend to develop rod photoreceptor dysfunction in later life. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1871 |
|
| has_age_of_onset |
Adult |
|
| has_inheritance |
Autosomal recessive Autosomal dominant |
|
| hasDbXref |
ICD-10:H35.5 OMIM:613093 UMLS:C0271092 OMIM:300085 MedDRA:10083940 OMIM:602093 ICD-11:9B70 OMIM:304030 OMIM:180020 |
|
| label |
Progressive cone dystrophy |
|
| notation |
ORPHA:1871 |
|
| part_of | ||
| prefixIRI |
ORDO:Orphanet_1871 |
|
| prefLabel |
Progressive cone dystrophy |
|
| present_in |
Worldwide AND has_point_prevalence_range : Unknown |
|
| treeView | ||
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://www.orpha.net/ORDO/Orphanet_1871 | EFO | SAME_URI | |
| http://www.orpha.net/ORDO/Orphanet_1871 | EFO | LOOM | |
| http://www.limics.org/hrdo/rdfns#pat_id_1842 | HRDO | LOOM | |
| http://purl.bioontology.org/ontology/OMIM/MTHU065416 | OMIM | LOOM | |
| http://www.semanticweb.org/hamide/ontologies/2019/3/IRD_1_5 | HAMIDEHSGH | LOOM |