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loading...| Preferred Name |
Achromatopsia |
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| Synonyms |
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| Definitions |
An autosomal recessive genetic disorder affecting the cone cells of the eye. It may be complete, in which the individual can only perceive black, white, or shades or gray, or incomplete, in which the individual has a residual amount of color vision. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C84528 |
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| code |
C84528 |
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| definition |
An autosomal recessive genetic disorder affecting the cone cells of the eye. It may be complete, in which the individual can only perceive black, white, or shades or gray, or incomplete, in which the individual has a residual amount of color vision. |
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| label |
Achromatopsia |
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| Preferred_Name |
Achromatopsia |
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| prefixIRI |
NCIT:C84528 |
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| prefLabel |
Achromatopsia |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0152200 |
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| subClassOf |
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