Metadata | |
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ID | DOID:11661 |
Name | blue color blindness |
Definition | A color blindness that is characterized by a selective deficiency of blue vision, has_material_basis_in autosomal dominant inheritance of a mutation in the OPN1SW gene and is associated with a deficiency or absence of blue-sensitive cone photoreceptor function. http://www.omim.org/entry/190900, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88629, https://www.ncbi.nlm.nih.gov/pubmed/2788922 |
Xrefs |
SNOMEDCT_US_2023_03_01:51886007 |
Synonyms |
Tritan defect [EXACT] Tritanopia [EXACT] |
Parent Relationships |
is_a color blindness |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |