Colorblindness, partial, protan series

Preferred Label : Colorblindness, partial, protan series;

Symbol : CBP;

CISMeF acronym : CBP;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Red colorblindness; PROTANOPIA;

Included titles and symbols : Protanomaly;

Description : Normal color vision in humans is trichromatic, being based on 3 classes of cone that are maximally sensitive to light at approximately 420 nm (blue cones; 613522), 530 nm (green cones; 300821), and 560 nm (red cones; 300822). Comparison by neural circuits of light absorption by the 3 classes of cone photoreceptors allows perception of red, yellow, green, and blue colors individually or in various combinations. Dichromatic color vision is severely defective color vision based on the use of only 2 types of photoreceptors, blue plus green (protanopia) or blue plus red (deuteranopia; see 303800). Anomalous trichromacy is trichromatic color vision based on a blue, green, and an anomalous red-like photoreceptor (protanomaly), or a blue, red, and an anomalous green-like photoreceptor (deuteranomaly). The color vision defect is generally mild but may in certain cases be severe. Common variation in red-green color vision exists among both normal and color-deficient individuals (review by Deeb, 2005).;

Inheritance : X-linked;

Prefixed ID : #303900;

Details

Origin ID

303900;

UMLS CUI

C3887980;

Automatic exact mappings (from CISMeF team)
- 1-chloro-3-bromopropene-1 [SNOMED Notion]
- Bronchopulmonary carcinoma [PASCAL descriptor]
- CBP Regimen [NCIt concept]
- CREB binding protein [ORDO Gene]
- CREB binding protein [HGNC gene]
- EIF4E wt Allele [NCIt concept]
- PAG1 wt Allele [NCIt concept]
- Primary biliary cholangitis [ORDO Disease]
- Protanomaly [PASCAL descriptor]
- Protanomaly [ICD-11 More detail]
- Protanopia [ICD-11 More detail]
- bronchopulmonary neoplasms [CISMeF Querying Strategy]
- cAMP response element binding protein binding [GO term]
- phosphoprotein membrane anchor with glycosphingolipid microdomains 1 [HGNC gene]
- symbol withdrawn CBP [HGNC gene]
Currated CISMeF NLP mapping
- Partial color blindness, protan type [ORDO Disease]
- Protan defect [MedDRA LLT]
- Protan defect (disorder) [SNOMED CT concept]
- Protanomaly [HPO term]
- Protanopia [HPO term]
- Protanopia [PASCAL descriptor]
- color blindness, red [MeSH concept]
- protan defect [SNOMED Notion]
- red color blindness [Disease (Nov.)]
- red color blindness [DO Concept]
DO Cross reference
- red color blindness [DO Concept]
False automatic mappings
- 1-chloro-3-bromopropene-1 (substance) [SNOMED CT concept]
- CREB-Binding Protein [NCIt concept]
- CREBBP wt Allele [NCIt concept]
- Primary Biliary Cholangitis [MeSH concept]
Genes related to phenotype
- Opsin 1, long-wave-sensitive [OMIM gene]
HPO term(s)
- Protanomaly [HPO term]
- X-linked recessive inheritance [HPO term]
- red series defect [HPO term]
ORDO concept(s)
- Partial color blindness, protan type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Protanomaly [HPO term]

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