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Human Phenotype Ontology
HP
All terms in HP
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Label
Id
Description
Reduced muscle fiber lamin A/C
HP_0030124
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena
HP_0032785
Focal aware autonomic seizure with palpitations/tachycardia/bradycardia/asystole
HP_0032784
Lichenoid skin lesion
HP_0031452
Reduced muscle fiber calpain-3
HP_0030121
Abnormal muscle fiber calpain-3
HP_0030119
Oral lichenoid lesion
HP_0031453
Reduced muscle fiber perlecan
HP_0030122
Focal aware autonomic seizure with piloerection
HP_0032783
Decreased CSF phenylalanine concentration
HP_0500224
Focal impaired awareness autonomic seizure with lacrimation
HP_0032782
Focal autonomic seizure with lacrimation
HP_0032771
Lower extremity subcutanous fat hypertrophy
HP_0031451
Absent muscle fiber calpain-3
HP_0030120
Focal aware autonomic seizure with urge to urinate/defecate
HP_0032781
Focal impaired awareness autonomic seizure with erection
HP_0032780
Increased CSF serine concentration
HP_0500227
Reduced muscle fiber emerin
HP_0030118
Abnormal muscle fiber emerin
HP_0030116
Perineal hemangioma
HP_0031449