loading...| Preferred Name |
Blue cone monochromatism |
| ID |
http://www.orpha.net/ORDO/Orphanet_16 |
| alternative_term |
Color blindness, blue monocone monochromatic type Blue cone monochromacy S cone monochromacy Atypical X-linked achromatopsia S cone monochromatism X-linked incomplete achromatopsia |
| definition |
Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia (see this term). |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=16 |
| has_age_of_onset |
Infancy |
| has_inheritance |
X-linked recessive |
| hasDbXref |
ICD-11:9B70 UMLS:C2931753 OMIM:303700 ICD-10:H53.5 MeSH:C536238 MeSH:C538165 |
| label |
Blue cone monochromatism |
| notation |
ORPHA:16 |
| part_of | |
| prefixIRI |
ORDO:Orphanet_16 |
| prefLabel |
Blue cone monochromatism |
| present_in |
Worldwide AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 |
| treeView | |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://www.orpha.net/ORDO/Orphanet_16 | Experimental Factor Ontology / 实验性因素本体 | LOOM | |
| http://www.orpha.net/ORDO/Orphanet_16 | Experimental Factor Ontology / 实验性因素本体 | SAME_URI | |
| http://purl.bioontology.org/ontology/MESH/C536238 | Medical Subject Headings / 医学主题词表 | LOOM |