TaoMedAI/RareMedData huggingface dataset:
Gene: PPP3CA
Phenotype: Impulsivity (HP:0100710)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PPP3CA
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91 (OMIM:617711)
Gene: PPP3CA
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PPP3CA
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PPP3CA
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91 (OMIM:617711)
Gene: PPP3CA
Phenotype: Developmental regression (HP:0002376)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PPP3CA
Phenotype: Developmental regression (HP:0002376)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91 (OMIM:617711)
Gene: PPP3CA
Phenotype: Unsteady gait (HP:0002317)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91 (OMIM:617711)
Gene: PPP3CA
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PPP3CA
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91 (OMIM:617711)
Gene: PPP3CA
Phenotype: EEG with multifocal slow activity (HP:0010844)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PPP3CA
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PPP3CA
Phenotype: Nystagmus (HP:0000639)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PPP3CA
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PPP3CA
Phenotype: Hypodontia (HP:0000668)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PPP3CA
Phenotype: Decreased body weight (HP:0004325)
Associated disease: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618265)
Gene: PPP3CA
Phenotype: Short stature (HP:0004322)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PPP3CA
Phenotype: Short stature (HP:0004322)
Associated disease: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618265)
Gene: PPP3CA
Phenotype: Short stature (HP:0004322)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91 (OMIM:617711)
Gene: PPP3CA
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PPP3CA
Phenotype: Third trimester onset (HP:0034197)
Associated disease: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618265)
Gene: PPP3CA
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PPP3CA
Phenotype: Autism (HP:0000717)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PPP3CA
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PPP3CA
Phenotype: Childhood onset (HP:0011463)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91 (OMIM:617711)
Gene: PPP3CA
Phenotype: Abnormality of coordination (HP:0011443)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PPP3CA
Phenotype: Slender long bone (HP:0003100)
Associated disease: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618265)
Gene: PPP3CA
Phenotype: Reduced cerebral white matter volume (HP:0034295)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91 (OMIM:617711)
Gene: PPP3CA
Phenotype: Thin ribs (HP:0000883)
Associated disease: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618265)
Gene: PPP3CA
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91 (OMIM:617711)
Gene: PPP3CA
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91 (OMIM:617711)
Gene: PPP3CA
Phenotype: Retrognathia (HP:0000278)
Associated disease: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618265)
Gene: PPP3CA
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618265)
Gene: PPP3CA
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618265)
Gene: PPP3CA
Phenotype: Microcephaly (HP:0000252)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PPP3CA
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PPP3CA
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PPP3CA
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91 (OMIM:617711)
Gene: PPP3CA
Phenotype: Hoarse voice (HP:0001609)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91 (OMIM:617711)
Gene: PPP3CA
Phenotype: Tonic seizure (HP:0032792)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91 (OMIM:617711)
Gene: PPP3CA
Phenotype: High forehead (HP:0000348)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PPP3CA
Phenotype: Micrognathia (HP:0000347)
Associated disease: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618265)
Gene: PPP3CA
Phenotype: Micrognathia (HP:0000347)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91 (OMIM:617711)
Gene: PPP3CA
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91 (OMIM:617711)
Gene: PPP3CA
Phenotype: Hypertelorism (HP:0000316)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91 (OMIM:617711)
Gene: PPP3CA
Phenotype: Short philtrum (HP:0000322)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91 (OMIM:617711)
Gene: PPP3CA
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91 (OMIM:617711)
Gene: PPP3CA
Phenotype: Prominent nasal tip (HP:0005274)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91 (OMIM:617711)
Gene: PPP3CA
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91 (OMIM:617711)
Gene: PPP3CA
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PPP3CA
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618265)
Gene: PPP3CA
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PPP3CA
Phenotype: Abnormal myelination (HP:0012447)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PPP3CA
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91 (OMIM:617711)
Gene: PPP3CA
Phenotype: Decreased calvarial ossification (HP:0005474)
Associated disease: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618265)
Gene: PPP3CA
Phenotype: Ptosis (HP:0000508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PPP3CA
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PPP3CA
Phenotype: Abnormal involuntary eye movements (HP:0012547)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PPP3CA
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PPT1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PPT1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1 (OMIM:256730)
Gene: PPT1
Phenotype: Seizure (HP:0001250)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1 (OMIM:256730)
Gene: PPT1
Phenotype: Hypotonia (HP:0001252)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1 (OMIM:256730)
Gene: PPT1
Phenotype: Ataxia (HP:0001251)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1 (OMIM:256730)
Gene: PPT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1 (OMIM:256730)
Gene: PPT1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1 (OMIM:256730)
Gene: PPT1
Phenotype: Spasticity (HP:0001257)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1 (OMIM:256730)
Gene: PPT1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1 (OMIM:256730)
Gene: PPT1
Phenotype: Reduced tissue palmitoyl-protein thioesterase activity (HP:6000783)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1 (OMIM:256730)
Gene: PPT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PPT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1 (OMIM:256730)
Gene: PPT1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PPT1
Phenotype: Myoclonus (HP:0001336)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1 (OMIM:256730)
Gene: PPT1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PPT1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PPT1
Phenotype: Increased neuronal autofluorescent lipopigment (HP:0002074)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1 (OMIM:256730)
Gene: PPT1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1 (OMIM:256730)
Gene: PPT1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1 (OMIM:256730)
Gene: PPT1
Phenotype: Psychomotor deterioration (HP:0002361)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1 (OMIM:256730)
Gene: PPT1
Phenotype: Loss of speech (HP:0002371)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1 (OMIM:256730)
Gene: PPT1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1 (OMIM:256730)
Gene: PPT1
Phenotype: Vascular granular osmiophilic material deposition (HP:0003657)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1 (OMIM:256730)
Gene: PPT1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PPT1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1 (OMIM:256730)
Gene: PPT1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1 (OMIM:256730)
Gene: PPT1
Phenotype: Blindness (HP:0000618)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1 (OMIM:256730)
Gene: PPT1
Phenotype: Vacuolated lymphocytes (HP:0001922)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1 (OMIM:256730)
Gene: PPT1
Phenotype: Macular degeneration (HP:0000608)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1 (OMIM:256730)
Gene: PPT1
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1 (OMIM:256730)
Gene: PPT1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PPT1
Phenotype: Decreased light- and dark-adapted electroretinogram amplitude (HP:0000654)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1 (OMIM:256730)
Gene: PPT1
Phenotype: Hallucinations (HP:0000738)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1 (OMIM:256730)
Gene: PPT1
Phenotype: Irritability (HP:0000737)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1 (OMIM:256730)
Gene: PPT1
Phenotype: Depression (HP:0000716)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1 (OMIM:256730)
Gene: PPT1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PPT1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PPT1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PPT1
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1 (OMIM:256730)
Gene: PPT1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PPT1
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1 (OMIM:256730)
Gene: PPT1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PPT1
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1 (OMIM:256730)
Gene: PPT1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PPT1
Phenotype: Undetectable electroretinogram (HP:0000550)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1 (OMIM:256730)
Gene: PPT1
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1 (OMIM:256730)
Gene: PPT1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PPT1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRCC
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: RENAL CELL CARCINOMA, PAPILLARY, 1 (OMIM:605074)
Gene: PRCC
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RENAL CELL CARCINOMA, PAPILLARY, 1 (OMIM:605074)
Gene: PRCC
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: RENAL CELL CARCINOMA, PAPILLARY, 1 (OMIM:605074)
Gene: PRCC
Phenotype: Papillary renal cell carcinoma (HP:0006766)
Associated disease: RENAL CELL CARCINOMA, PAPILLARY, 1 (OMIM:605074)
Gene: PRF1
Phenotype: Tetraplegia (HP:0002445)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
Gene: PRF1
Phenotype: CNS demyelination (HP:0007305)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
Gene: PRF1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
Gene: PRF1
Phenotype: Hypertonia (HP:0001276)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
Gene: PRF1
Phenotype: Meningitis (HP:0001287)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
Gene: PRF1
Phenotype: Seizure (HP:0001250)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
Gene: PRF1
Phenotype: Seizure (HP:0001250)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: PRF1
Phenotype: Colitis (HP:0002583)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: PRF1
Phenotype: Hypotonia (HP:0001252)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
Gene: PRF1
Phenotype: Ataxia (HP:0001251)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
Gene: PRF1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
Gene: PRF1
Phenotype: Coma (HP:0001259)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: PRF1
Phenotype: Coma (HP:0001259)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
Gene: PRF1
Phenotype: Generalized edema (HP:0007430)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
Gene: PRF1
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
Gene: PRF1
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: PRF1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
Gene: PRF1
Phenotype: Lymphoma (HP:0002665)
Associated disease: LYMPHOMA, NON-HODGKIN, FAMILIAL (OMIM:605027)
Gene: PRF1
Phenotype: Cholestatic liver disease (HP:0002611)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: PRF1
Phenotype: Abnormal natural killer cell physiology (HP:0012177)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: PRF1
Phenotype: Abnormal natural killer cell physiology (HP:0012177)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
Gene: PRF1
Phenotype: Hemophagocytosis (HP:0012156)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: PRF1
Phenotype: Hemophagocytosis (HP:0012156)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
Gene: PRF1
Phenotype: Abnormality of multiple cell lineages in the bone marrow (HP:0012145)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: PRF1
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
Gene: PRF1
Phenotype: Decreased liver function (HP:0001410)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: PRF1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Idiopathic aplastic anemia; Idiopathic bone marrow failure (ORPHA:88)
Gene: PRF1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
Gene: PRF1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: PRF1
Phenotype: Abnormality of the respiratory system (HP:0002086)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: PRF1
Phenotype: Prolonged prothrombin time (HP:0008151)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
Gene: PRF1
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: PRF1
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
Gene: PRF1
Phenotype: Hypofibrinogenemia (HP:0011900)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: PRF1
Phenotype: Hypofibrinogenemia (HP:0011900)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
Gene: PRF1
Phenotype: Infantile onset (HP:0003593)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
Gene: PRF1
Phenotype: Increased total bilirubin (HP:0003573)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
Gene: PRF1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
Gene: PRF1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: PRF1
Phenotype: Infectious encephalitis (HP:0002383)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: PRF1
Phenotype: Infectious encephalitis (HP:0002383)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
Gene: PRF1
Phenotype: Erythroderma (HP:0001019)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: PRF1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: PRF1
Phenotype: Hemiplegia (HP:0002301)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
Gene: PRF1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: APLASTIC ANEMIA (OMIM:609135)
Gene: PRF1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: Idiopathic aplastic anemia; Idiopathic bone marrow failure (ORPHA:88)
Gene: PRF1
Phenotype: Fever (HP:0001945)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
Gene: PRF1
Phenotype: Fever (HP:0001945)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: PRF1
Phenotype: Recurrent fever (HP:0001954)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)