| HPO |
HP:0011518 |
Dichromacy |
"Individuals affected by dichromacy possess only two types of cones, instead of three." [HPO:probinson] |
The three types of dichromacy (protanopia, deuteranopia, and tritanopia) are named according the cone photopigment that is missing. |
HP:0007641 |
| HPO |
HP:0011519 |
Anomalous trichromacy |
"Individuals with anomalous trichromacy possess three types of cones, but one of the three types of cones has an abnormal spectral sensitivity compared to normal cones." [HPO:probinson] |
Because the spectral sensitivities of individuals with anomalous trichromacy are shifted compared to normal, they mix the primary colors in different proportions. |
HP:0007641 |
| HPO |
HP:0011520 |
Deuteranomaly |
"A type of anomalous trichromacy associated with abnormal M photopigment, such that the absorption spectrum is shifted toward L wavelengths. Affected individuals have difficulties distinguishing between red and green." [HPO:probinson] |
Note that protanomaly and deuteranomaly are both associated with difficulties distinguishing red and green. |
HP:0000642, HP:0011519 |
| HPO |
HP:0011521 |
Deuteranopia |
"Complete lack of the M photopigment, which is replaced with the L photopigment. Affected individuals tend to confuse red and green." [DDD:gblack] |
Blue and red cones only; no functional green cones. |
HP:0000642, HP:0011518 |
| HPO |
HP:0011522 |
Protanopia |
"Blue and green cones only; no functional red cones." [DDD:gblack] |
— |
HP:0000642, HP:0011518 |
| HPO |
HP:0011523 |
Iris cyst |
"An iris cyst is composed of a single cell layer of epithelium and is filled with fluid." [DDD:gblack] |
— |
HP:0000525 |
| HPO |
HP:0011524 |
Iris melanoma |
"Malignant tumor of melanocytes affecting the iris." [DDD:ncarter] |
— |
HP:0000525, HP:0007716 |
| HPO |
HP:0011525 |
Iris nevus |
"A benign brown pigmented area over the iris representing proliferation of melanocyte cells in the stromal layer of the iris. An iris nevus can be flat or occasionally slightly elevated." [DDD:ncarter] |
— |
HP:0000525 |
| HPO |
HP:0011526 |
Abnormality of lens shape |
"An abnormal shape of the lens." [HPO:probinson] |
— |
HP:0000517 |
| HPO |
HP:0011527 |
Lentiglobus |
"Exaggerated curvature of the lens of the eye, producing an anterior or posterior spherical bulging." [DDD:gblack] |
— |
HP:0011526 |
| HPO |
HP:0011528 |
Solitary congenital hypertrophy of retinal pigment epithelium |
"Sharply demarcated hyperpigmentation which is congenital found in around 3-5% of the population and of no functional significance." [DDD:gblack] |
— |
HP:0007649 |
| HPO |
HP:0011529 |
Multiple bilateral congenital hypertrophy of retinal pigment epithelium |
"Sharply demarcated hyperpigmentation which is congenital." [DDD:gblack] |
Bilateral multiple CHRPE is strongly associated with familial adenomatous polyposis coli. |
HP:0007649 |
| HPO |
HP:0011530 |
Retinal hole |
"A small break in the retina." [HPO:probinson] |
A retinal hole can be asymptomatic or can lead to the sudden appearance of many floaters or flashes, blurry, or wavy vision, or of a a dark shadow or curtain in the peripheral visual field. |
HP:0011958 |
| HPO |
HP:0011531 |
Vitritis |
"Inflammation of the vitreous body, characterized by the presence of inflammatory cells and protein exudate in the vitreous cavity." [HPO:probinson] |
— |
HP:0004327 |
| HPO |
HP:0011532 |
Subretinal exudate |
"A type of retinal exudate located in the subretinal space between the sensory retina and the retinal pigment epithelium." [HPO:probinson] |
— |
HP:0001147 |
| HPO |
HP:0011533 |
Snowflake vitreoretinal degeneration |
"The appearance of yellow/white crystalline-like (hence the name) spots in the retina and thickening of the peripheral part of the vitreous." [DDD:ncarter, PMID:18179896] |
— |
HP:0007769, HP:0007773 |
| HPO |
HP:0011534 |
Abnormal spatial orientation of the cardiac segments |
"Abnormality of the spatial relationship of the cardiac segments to other components of the heart." [] |
— |
HP:0001627 |
| HPO |
HP:0011535 |
Abnormal atrial arrangement |
"Abnormality of the spatial relationship of the atria to other components of the heart." [DDD:dbrown] |
— |
HP:0005120, HP:0011534 |
| HPO |
HP:0011536 |
Right atrial isomerism |
"Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest." [DDD:dbrown, PMID:3408620] |
— |
HP:0011535, HP:0031855 |
| HPO |
HP:0011537 |
Left atrial isomerism |
"In left atrial isomerism there is a bilateral small finger-shaped morphologically left atrial appendage joining the atrial chamber along a narrow front without an internal terminal crest." [DDD:dbrown, PMID:3408620] |
Left and right hand side atria have left atrial morphology. |
HP:0011535, HP:0031854 |
| HPO |
HP:0011538 |
Atrial situs inversus |
"Mirror image atrial arrangement, with morphologic right atrium on the left hand side and morphologic left atrium on the right hand side." [DDD:dbrown] |
— |
HP:0011535 |
| HPO |
HP:0011539 |
Atrial situs ambiguous |
"Common atrium without defining morphologic features." [DDD:dbrown] |
— |
HP:0011535 |
| HPO |
HP:0011540 |
Congenitally corrected transposition of the great arteries |
"The essence of the lesion is the combination of discordant atrioventricular and ventriculo-arterial connections. Thus, the morphologically right atrium is connected to a morphologically left ventricle across the mitral valve, with the left ventricle then connected to the pulmonary trunk. The morphologically left atrium is connected to the morphologically right ventricle across the tricuspid valve, with the morphologically right ventricle connected to the aorta." [DDD:dbrown, PMID:21569592] |
— |
HP:0011534, HP:0011603 |
| HPO |
HP:0011541 |
Criss-cross atrioventricular valves |
"Crossing of the inflow streams of the two ventricles, due to an apparent twisting of the heart about its long axis." [DDD:dbrown, HPO:probinson] |
— |
HP:0011534 |
| HPO |
HP:0011542 |
Criss-cross atrioventricular valves with superior-inferior ventricles |
"Criss-cross atrioventricular valves with a rare cardiac malformation characterized by the two ventricles lying one above the other instead of side by side." [PMID:11789809] |
— |
HP:0011541 |