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Human Phenotype Ontology
HP
All terms in HP
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16322
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Label
Id
Description
Reflex asystolic syncope
HP_0500173
Progressive leg bowing
HP_0006409
Focal aware cognitive seizure with left-right confusion
HP_0032706
Focal aware cognitive seizure with forced thinking
HP_0032705
Focal aware cognitive seizure with illusion
HP_0032704
Monocular horizontal nystagmus
HP_0007747
Distal tibial bowing
HP_0006414
Cortically dense long tubular bones
HP_0006415
Broad tibial metaphyses
HP_0006413
Decreased CSF leucine concentration
HP_0500190
Abnormal CSF leucine concentration
HP_0500189
Increased CSF leucine concentration
HP_0500191
Abnormal CSF isoleucine concentration
HP_0500192
Abnormal CSF branched chain amino acid concentration
HP_0500185
Long eyelashes in irregular rows
HP_0007740
Increased CSF isoleucine concentration
HP_0500193
Focal aware cognitive seizure with dysgraphia/agraphia
HP_0032709
Focal aware cognitive seizure with anomia
HP_0032708
Focal aware cognitive seizure with dyslexia/alexia
HP_0032707
Increased CSF valine concentration
HP_0500187