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Human Phenotype Ontology
HP
All terms in HP
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Label
Id
Description
Bilateral intracerebral calcifications
HP_0005671
Reduced OCT-measured foveal thickness
HP_0030619
Abnormal OCT-measured foveal thickness
HP_0030617
Snowball lesion of corpus callosum
HP_0031948
Increased OCT-measured foveal thickness
HP_0030618
Recurrent bacterial upper respiratory tract infections
HP_0031949
Enlargement of the ankles
HP_0003029
Increased vertical cup-to-disc ratio - 0.9
HP_0031977
Increased vertical cup-to-disc ratio
HP_0031973
Increased vertical cup-to-disc ratio - 1.0
HP_0031978
Increased vertical cup-to-disc ratio - 0.7
HP_0031975
Blind-spot enlargment
HP_0030644
Dysplastic distal thumb phalanges with a central hole
HP_0005688
Increased vertical cup-to-disc ratio - 0.8
HP_0031976
Dermatoglyphic ridges abnormal
HP_0005689
Fundus albipunctatus
HP_0030642
Congenital stationary night blindness with abnormal fundus
HP_0030639
Abnormality of superoxide metabolism
HP_0004358
Vitelliform-like retinal lesions
HP_0030643
Increased vertical cup-to-disc ratio - 0.6
HP_0031974