TaoMedAI/RareMedData huggingface dataset:
Gene: EIF2AK2
Phenotype: Inability to walk (HP:0002540)
Associated disease: LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME (OMIM:618877)
Gene: EIF2AK2
Phenotype: Axial dystonia (HP:0002530)
Associated disease: DYSTONIA 33 (OMIM:619687)
Gene: EIF2AK2
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME (OMIM:618877)
Gene: EIF2AK2
Phenotype: Dystonia (HP:0001332)
Associated disease: LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME (OMIM:618877)
Gene: EIF2AK2
Phenotype: Dystonia (HP:0001332)
Associated disease: DYSTONIA 33 (OMIM:619687)
Gene: EIF2AK2
Phenotype: Absent speech (HP:0001344)
Associated disease: LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME (OMIM:618877)
Gene: EIF2AK2
Phenotype: Tremor (HP:0001337)
Associated disease: LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME (OMIM:618877)
Gene: EIF2AK2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DYSTONIA 33 (OMIM:619687)
Gene: EIF2AK2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME (OMIM:618877)
Gene: EIF2AK2
Phenotype: Myoclonus (HP:0001336)
Associated disease: LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME (OMIM:618877)
Gene: EIF2AK2
Phenotype: Parkinsonism (HP:0001300)
Associated disease: LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME (OMIM:618877)
Gene: EIF2AK2
Phenotype: Bowel incontinence (HP:0002607)
Associated disease: LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME (OMIM:618877)
Gene: EIF2AK2
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: DYSTONIA 33 (OMIM:619687)
Gene: EIF2AK2
Phenotype: Bradykinesia (HP:0002067)
Associated disease: LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME (OMIM:618877)
Gene: EIF2AK2
Phenotype: Gait ataxia (HP:0002066)
Associated disease: LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME (OMIM:618877)
Gene: EIF2AK2
Phenotype: Rigidity (HP:0002063)
Associated disease: LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME (OMIM:618877)
Gene: EIF2AK2
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME (OMIM:618877)
Gene: EIF2AK2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME (OMIM:618877)
Gene: EIF2AK2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME (OMIM:618877)
Gene: EIF2AK2
Phenotype: Babinski sign (HP:0003487)
Associated disease: DYSTONIA 33 (OMIM:619687)
Gene: EIF2AK2
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME (OMIM:618877)
Gene: EIF2AK2
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME (OMIM:618877)
Gene: EIF2AK2
Phenotype: Infantile onset (HP:0003593)
Associated disease: LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME (OMIM:618877)
Gene: EIF2AK2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: DYSTONIA 33 (OMIM:619687)
Gene: EIF2AK2
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: EOTD; Early-onset isolated dystonia; Oppenheim dystonia; Early-onset generalized limb-onset dystonia; Early-onset primary dystonia; Early-onset torsion dystonia; Early-onset generalized torsion dystonia; Dystonia musculorum deformans; Idiopathic torsion dystonia (ORPHA:256)
Gene: EIF2AK2
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: EOTD; Early-onset isolated dystonia; Oppenheim dystonia; Early-onset generalized limb-onset dystonia; Early-onset primary dystonia; Early-onset torsion dystonia; Early-onset generalized torsion dystonia; Dystonia musculorum deformans; Idiopathic torsion dystonia (ORPHA:256)
Gene: EIF2AK2
Phenotype: Childhood onset (HP:0011463)
Associated disease: DYSTONIA 33 (OMIM:619687)
Gene: EIF2AK2
Phenotype: Hemiballismus (HP:0100248)
Associated disease: LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME (OMIM:618877)
Gene: EIF2AK2
Phenotype: Mask-like facies (HP:0000298)
Associated disease: LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME (OMIM:618877)
Gene: EIF2AK2
Phenotype: Microcephaly (HP:0000252)
Associated disease: LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME (OMIM:618877)
Gene: EIF2AK2
Phenotype: Neonatal seizure (HP:0032807)
Associated disease: DYSTONIA 33 (OMIM:619687)
Gene: EIF2AK2
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: EOTD; Early-onset isolated dystonia; Oppenheim dystonia; Early-onset generalized limb-onset dystonia; Early-onset primary dystonia; Early-onset torsion dystonia; Early-onset generalized torsion dystonia; Dystonia musculorum deformans; Idiopathic torsion dystonia (ORPHA:256)
Gene: EIF2AK2
Phenotype: Pes cavus (HP:0001761)
Associated disease: DYSTONIA 33 (OMIM:619687)
Gene: EIF2AK2
Phenotype: Early young adult onset (HP:0025708)
Associated disease: DYSTONIA 33 (OMIM:619687)
Gene: EIF2AK2
Phenotype: Vertical supranuclear gaze palsy (HP:0000511)
Associated disease: DYSTONIA 33 (OMIM:619687)
Gene: DNAJC3
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: Combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome; Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome; Combined cerebellar and peripheral ataxia-deafness-diabetes mellitus syndrome (ORPHA:445062)
Gene: DNAJC3
Phenotype: Sensory ataxia (HP:0010871)
Associated disease: ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS (OMIM:616192)
Gene: DNAJC3
Phenotype: Sensory ataxia (HP:0010871)
Associated disease: Combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome; Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome; Combined cerebellar and peripheral ataxia-deafness-diabetes mellitus syndrome (ORPHA:445062)
Gene: DNAJC3
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS (OMIM:616192)
Gene: DNAJC3
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome; Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome; Combined cerebellar and peripheral ataxia-deafness-diabetes mellitus syndrome (ORPHA:445062)
Gene: DNAJC3
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome; Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome; Combined cerebellar and peripheral ataxia-deafness-diabetes mellitus syndrome (ORPHA:445062)
Gene: DNAJC3
Phenotype: Atrophy/Degeneration affecting the brainstem (HP:0007366)
Associated disease: ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS (OMIM:616192)
Gene: DNAJC3
Phenotype: Atrophy/Degeneration affecting the brainstem (HP:0007366)
Associated disease: Combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome; Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome; Combined cerebellar and peripheral ataxia-deafness-diabetes mellitus syndrome (ORPHA:445062)
Gene: DNAJC3
Phenotype: Areflexia of lower limbs (HP:0002522)
Associated disease: ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS (OMIM:616192)
Gene: DNAJC3
Phenotype: Areflexia of lower limbs (HP:0002522)
Associated disease: Combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome; Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome; Combined cerebellar and peripheral ataxia-deafness-diabetes mellitus syndrome (ORPHA:445062)
Gene: DNAJC3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS (OMIM:616192)
Gene: DNAJC3
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS (OMIM:616192)
Gene: DNAJC3
Phenotype: Gait ataxia (HP:0002066)
Associated disease: ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS (OMIM:616192)
Gene: DNAJC3
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome; Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome; Combined cerebellar and peripheral ataxia-deafness-diabetes mellitus syndrome (ORPHA:445062)
Gene: DNAJC3
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS (OMIM:616192)
Gene: DNAJC3
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome; Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome; Combined cerebellar and peripheral ataxia-deafness-diabetes mellitus syndrome (ORPHA:445062)
Gene: DNAJC3
Phenotype: Babinski sign (HP:0003487)
Associated disease: ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS (OMIM:616192)
Gene: DNAJC3
Phenotype: Babinski sign (HP:0003487)
Associated disease: Combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome; Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome; Combined cerebellar and peripheral ataxia-deafness-diabetes mellitus syndrome (ORPHA:445062)
Gene: DNAJC3
Phenotype: Decreased sensory nerve conduction velocity (HP:0003448)
Associated disease: ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS (OMIM:616192)
Gene: DNAJC3
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS (OMIM:616192)
Gene: DNAJC3
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS (OMIM:616192)
Gene: DNAJC3
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS (OMIM:616192)
Gene: DNAJC3
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: Combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome; Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome; Combined cerebellar and peripheral ataxia-deafness-diabetes mellitus syndrome (ORPHA:445062)
Gene: DNAJC3
Phenotype: Demyelinating peripheral neuropathy (HP:0007108)
Associated disease: Combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome; Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome; Combined cerebellar and peripheral ataxia-deafness-diabetes mellitus syndrome (ORPHA:445062)
Gene: DNAJC3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS (OMIM:616192)
Gene: DNAJC3
Phenotype: Atrophy of the spinal cord (HP:0006827)
Associated disease: Combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome; Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome; Combined cerebellar and peripheral ataxia-deafness-diabetes mellitus syndrome (ORPHA:445062)
Gene: DNAJC3
Phenotype: Anti-islet antigen-2 antibody positivity (HP:0034063)
Associated disease: ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS (OMIM:616192)
Gene: DNAJC3
Phenotype: Decreased body weight (HP:0004325)
Associated disease: Combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome; Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome; Combined cerebellar and peripheral ataxia-deafness-diabetes mellitus syndrome (ORPHA:445062)
Gene: DNAJC3
Phenotype: Short stature (HP:0004322)
Associated disease: ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS (OMIM:616192)
Gene: DNAJC3
Phenotype: Short stature (HP:0004322)
Associated disease: Combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome; Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome; Combined cerebellar and peripheral ataxia-deafness-diabetes mellitus syndrome (ORPHA:445062)
Gene: DNAJC3
Phenotype: Childhood onset (HP:0011463)
Associated disease: ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS (OMIM:616192)
Gene: DNAJC3
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome; Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome; Combined cerebellar and peripheral ataxia-deafness-diabetes mellitus syndrome (ORPHA:445062)
Gene: DNAJC3
Phenotype: Elevated hemoglobin A1c (HP:0040217)
Associated disease: ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS (OMIM:616192)
Gene: DNAJC3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS (OMIM:616192)
Gene: DNAJC3
Phenotype: Early young adult onset (HP:0025708)
Associated disease: ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS (OMIM:616192)
Gene: PRLR
Phenotype: Galactorrhea (HP:0100829)
Associated disease: Familial isolated prolactin receptor deficiency; Familial hyperprolactinemia (ORPHA:397685)
Gene: PRLR
Phenotype: Galactorrhea (HP:0100829)
Associated disease: HYPERPROLACTINEMIA (OMIM:615555)
Gene: PRLR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERPROLACTINEMIA (OMIM:615555)
Gene: PRLR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPERPROLACTINEMIA (OMIM:615555)
Gene: PRLR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MULTIPLE FIBROADENOMAS OF THE BREAST (OMIM:615554)
Gene: PRLR
Phenotype: Agalactia (HP:0031109)
Associated disease: HYPERPROLACTINEMIA (OMIM:615555)
Gene: PRLR
Phenotype: Amenorrhea (HP:0000141)
Associated disease: Familial isolated prolactin receptor deficiency; Familial hyperprolactinemia (ORPHA:397685)
Gene: PRLR
Phenotype: Menorrhagia (HP:0000132)
Associated disease: HYPERPROLACTINEMIA (OMIM:615555)
Gene: PRLR
Phenotype: Menorrhagia (HP:0000132)
Associated disease: Familial isolated prolactin receptor deficiency; Familial hyperprolactinemia (ORPHA:397685)
Gene: PRLR
Phenotype: Female hypogonadism (HP:0000134)
Associated disease: Familial isolated prolactin receptor deficiency; Familial hyperprolactinemia (ORPHA:397685)
Gene: PRLR
Phenotype: Female infertility (HP:0008222)
Associated disease: HYPERPROLACTINEMIA (OMIM:615555)
Gene: PRLR
Phenotype: Fibroadenoma of the breast (HP:0010619)
Associated disease: MULTIPLE FIBROADENOMAS OF THE BREAST (OMIM:615554)
Gene: PRLR
Phenotype: Young adult onset (HP:0011462)
Associated disease: HYPERPROLACTINEMIA (OMIM:615555)
Gene: PRLR
Phenotype: Infertility (HP:0000789)
Associated disease: Familial isolated prolactin receptor deficiency; Familial hyperprolactinemia (ORPHA:397685)
Gene: PRLR
Phenotype: Oligomenorrhea (HP:0000876)
Associated disease: Familial isolated prolactin receptor deficiency; Familial hyperprolactinemia (ORPHA:397685)
Gene: PRLR
Phenotype: Oligomenorrhea (HP:0000876)
Associated disease: HYPERPROLACTINEMIA (OMIM:615555)
Gene: PRLR
Phenotype: Increased circulating prolactin concentration (HP:0000870)
Associated disease: HYPERPROLACTINEMIA (OMIM:615555)
Gene: PRLR
Phenotype: Hemorrhagic ovarian cyst (HP:0012886)
Associated disease: Familial isolated prolactin receptor deficiency; Familial hyperprolactinemia (ORPHA:397685)
Gene: PRLR
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Familial isolated prolactin receptor deficiency; Familial hyperprolactinemia (ORPHA:397685)
Gene: PRLR
Phenotype: Osteopenia (HP:0000938)
Associated disease: Familial isolated prolactin receptor deficiency; Familial hyperprolactinemia (ORPHA:397685)
Gene: PRNP
Phenotype: Spastic dysarthria (HP:0002464)
Associated disease: Inherited CJD; Inherited Creutzfeldt-Jakob disease (ORPHA:282166)
Gene: PRNP
Phenotype: Abnormal head movements (HP:0002457)
Associated disease: HDL1; Early-onset prion disease with prominent psychiatric features; Huntington disease-like 1 (ORPHA:157941)
Gene: PRNP
Phenotype: Astrocytosis (HP:0002446)
Associated disease: Inherited CJD; Inherited Creutzfeldt-Jakob disease (ORPHA:282166)
Gene: PRNP
Phenotype: Epiphora (HP:0009926)
Associated disease: FFI; Fatal familial insomnia (ORPHA:466)
Gene: PRNP
Phenotype: Poor visual behavior for age (HP:0025152)
Associated disease: Inherited CJD; Inherited Creutzfeldt-Jakob disease (ORPHA:282166)
Gene: PRNP
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Inherited CJD; Inherited Creutzfeldt-Jakob disease (ORPHA:282166)
Gene: PRNP
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: FFI; Fatal familial insomnia (ORPHA:466)
Gene: PRNP
Phenotype: EEG with spike-wave complexes (HP:0010850)
Associated disease: FFI; Fatal familial insomnia (ORPHA:466)
Gene: PRNP
Phenotype: Stroke-like episode (HP:0002401)
Associated disease: Inherited CJD; Inherited Creutzfeldt-Jakob disease (ORPHA:282166)
Gene: PRNP
Phenotype: Encephalopathy (HP:0001298)
Associated disease: SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES (OMIM:606688)
Gene: PRNP
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: HDL1; Early-onset prion disease with prominent psychiatric features; Huntington disease-like 1 (ORPHA:157941)
Gene: PRNP
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: HDL1; Early-onset prion disease with prominent psychiatric features; Huntington disease-like 1 (ORPHA:157941)
Gene: PRNP
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: GERSTMANN-STRAUSSLER DISEASE (OMIM:137440)
Gene: PRNP
Phenotype: Hemiparesis (HP:0001269)
Associated disease: CREUTZFELDT-JAKOB DISEASE (OMIM:123400)
Gene: PRNP
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Gerstmann-Straussler-Scheinker syndrome; Subacute spongiform encephalopathy, Gerstmann-Straussler type (ORPHA:356)
Gene: PRNP
Phenotype: Confusion (HP:0001289)
Associated disease: Inherited CJD; Inherited Creutzfeldt-Jakob disease (ORPHA:282166)
Gene: PRNP
Phenotype: Confusion (HP:0001289)
Associated disease: CREUTZFELDT-JAKOB DISEASE (OMIM:123400)
Gene: PRNP
Phenotype: Gait disturbance (HP:0001288)
Associated disease: HDL1; Early-onset prion disease with prominent psychiatric features; Huntington disease-like 1 (ORPHA:157941)
Gene: PRNP
Phenotype: Areflexia (HP:0001284)
Associated disease: Gerstmann-Straussler-Scheinker syndrome; Subacute spongiform encephalopathy, Gerstmann-Straussler type (ORPHA:356)
Gene: PRNP
Phenotype: Areflexia (HP:0001284)
Associated disease: GERSTMANN-STRAUSSLER DISEASE (OMIM:137440)
Gene: PRNP
Phenotype: Seizure (HP:0001250)
Associated disease: HDL1; Early-onset prion disease with prominent psychiatric features; Huntington disease-like 1 (ORPHA:157941)
Gene: PRNP
Phenotype: Seizure (HP:0001250)
Associated disease: Inherited CJD; Inherited Creutzfeldt-Jakob disease (ORPHA:282166)
Gene: PRNP
Phenotype: Ataxia (HP:0001251)
Associated disease: FATAL FAMILIAL INSOMNIA (OMIM:600072)
Gene: PRNP
Phenotype: Ataxia (HP:0001251)
Associated disease: FFI; Fatal familial insomnia (ORPHA:466)
Gene: PRNP
Phenotype: Dysarthria (HP:0001260)
Associated disease: FATAL FAMILIAL INSOMNIA (OMIM:600072)
Gene: PRNP
Phenotype: Dysarthria (HP:0001260)
Associated disease: HUNTINGTON DISEASE-LIKE 1 (OMIM:603218)
Gene: PRNP
Phenotype: Dysarthria (HP:0001260)
Associated disease: Gerstmann-Straussler-Scheinker syndrome; Subacute spongiform encephalopathy, Gerstmann-Straussler type (ORPHA:356)
Gene: PRNP
Phenotype: Dysarthria (HP:0001260)
Associated disease: FFI; Fatal familial insomnia (ORPHA:466)
Gene: PRNP
Phenotype: Dysarthria (HP:0001260)
Associated disease: HDL1; Early-onset prion disease with prominent psychiatric features; Huntington disease-like 1 (ORPHA:157941)
Gene: PRNP
Phenotype: Dysarthria (HP:0001260)
Associated disease: GERSTMANN-STRAUSSLER DISEASE (OMIM:137440)
Gene: PRNP
Phenotype: Spasticity (HP:0001257)
Associated disease: GERSTMANN-STRAUSSLER DISEASE (OMIM:137440)
Gene: PRNP
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: Gerstmann-Straussler-Scheinker syndrome; Subacute spongiform encephalopathy, Gerstmann-Straussler type (ORPHA:356)
Gene: PRNP
Phenotype: Short term memory impairment (HP:0033687)
Associated disease: FFI; Fatal familial insomnia (ORPHA:466)
Gene: PRNP
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Gerstmann-Straussler-Scheinker syndrome; Subacute spongiform encephalopathy, Gerstmann-Straussler type (ORPHA:356)
Gene: PRNP
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: GERSTMANN-STRAUSSLER DISEASE (OMIM:137440)
Gene: PRNP
Phenotype: Abnormal posturing (HP:0002533)
Associated disease: HDL1; Early-onset prion disease with prominent psychiatric features; Huntington disease-like 1 (ORPHA:157941)
Gene: PRNP
Phenotype: Deficit in phonologic short-term memory (HP:0002549)
Associated disease: Familial Alzheimer-like prion disease (ORPHA:280397)
Gene: PRNP
Phenotype: Neuronal loss in central nervous system (HP:0002529)
Associated disease: Inherited CJD; Inherited Creutzfeldt-Jakob disease (ORPHA:282166)
Gene: PRNP
Phenotype: Neuronal loss in central nervous system (HP:0002529)
Associated disease: FATAL FAMILIAL INSOMNIA (OMIM:600072)
Gene: PRNP
Phenotype: Acroparesthesia (HP:0031006)
Associated disease: Gerstmann-Straussler-Scheinker syndrome; Subacute spongiform encephalopathy, Gerstmann-Straussler type (ORPHA:356)
Gene: PRNP
Phenotype: Slurred speech (HP:0001350)
Associated disease: Inherited CJD; Inherited Creutzfeldt-Jakob disease (ORPHA:282166)
Gene: PRNP
Phenotype: Slurred speech (HP:0001350)
Associated disease: HDL1; Early-onset prion disease with prominent psychiatric features; Huntington disease-like 1 (ORPHA:157941)
Gene: PRNP
Phenotype: Urinary retention (HP:0000016)
Associated disease: FATAL FAMILIAL INSOMNIA (OMIM:600072)
Gene: PRNP
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: GERSTMANN-STRAUSSLER DISEASE (OMIM:137440)
Gene: PRNP
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Familial Alzheimer-like prion disease (ORPHA:280397)
Gene: PRNP
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Inherited CJD; Inherited Creutzfeldt-Jakob disease (ORPHA:282166)
Gene: PRNP
Phenotype: Tremor (HP:0001337)
Associated disease: Inherited CJD; Inherited Creutzfeldt-Jakob disease (ORPHA:282166)
Gene: PRNP
Phenotype: Tremor (HP:0001337)
Associated disease: GERSTMANN-STRAUSSLER DISEASE (OMIM:137440)
Gene: PRNP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HUNTINGTON DISEASE-LIKE 1 (OMIM:603218)
Gene: PRNP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FATAL FAMILIAL INSOMNIA (OMIM:600072)
Gene: PRNP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CREUTZFELDT-JAKOB DISEASE (OMIM:123400)