TaoMedAI/RareMedData huggingface dataset:
Gene: CLN8
Phenotype: Myoclonus (HP:0001336)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8 (OMIM:600143)
Gene: CLN8
Phenotype: Dysphagia (HP:0002015)
Associated disease: NCL, Northern epilepsy variant; Neuronal ceroid lipofuscinosis, Northern epilepsy variant; CLN8 disease, Northern epilepsy variant; Progressive epilepsy-intellectual disability syndrome, Finnish type; Northern epilepsy (ORPHA:1947)
Gene: CLN8
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: NCL, Northern epilepsy variant; Neuronal ceroid lipofuscinosis, Northern epilepsy variant; CLN8 disease, Northern epilepsy variant; Progressive epilepsy-intellectual disability syndrome, Finnish type; Northern epilepsy (ORPHA:1947)
Gene: CLN8
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT (OMIM:610003)
Gene: CLN8
Phenotype: Gait ataxia (HP:0002066)
Associated disease: NCL, Northern epilepsy variant; Neuronal ceroid lipofuscinosis, Northern epilepsy variant; CLN8 disease, Northern epilepsy variant; Progressive epilepsy-intellectual disability syndrome, Finnish type; Northern epilepsy (ORPHA:1947)
Gene: CLN8
Phenotype: Increased neuronal autofluorescent lipopigment (HP:0002074)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8 (OMIM:600143)
Gene: CLN8
Phenotype: Increased neuronal autofluorescent lipopigment (HP:0002074)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT (OMIM:610003)
Gene: CLN8
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: NCL, Northern epilepsy variant; Neuronal ceroid lipofuscinosis, Northern epilepsy variant; CLN8 disease, Northern epilepsy variant; Progressive epilepsy-intellectual disability syndrome, Finnish type; Northern epilepsy (ORPHA:1947)
Gene: CLN8
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8 (OMIM:600143)
Gene: CLN8
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT (OMIM:610003)
Gene: CLN8
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: NCL, Northern epilepsy variant; Neuronal ceroid lipofuscinosis, Northern epilepsy variant; CLN8 disease, Northern epilepsy variant; Progressive epilepsy-intellectual disability syndrome, Finnish type; Northern epilepsy (ORPHA:1947)
Gene: CLN8
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: NCL, Northern epilepsy variant; Neuronal ceroid lipofuscinosis, Northern epilepsy variant; CLN8 disease, Northern epilepsy variant; Progressive epilepsy-intellectual disability syndrome, Finnish type; Northern epilepsy (ORPHA:1947)
Gene: CLN8
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT (OMIM:610003)
Gene: CLN8
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: NCL, Northern epilepsy variant; Neuronal ceroid lipofuscinosis, Northern epilepsy variant; CLN8 disease, Northern epilepsy variant; Progressive epilepsy-intellectual disability syndrome, Finnish type; Northern epilepsy (ORPHA:1947)
Gene: CLN8
Phenotype: Difficulty standing (HP:0003698)
Associated disease: NCL, Northern epilepsy variant; Neuronal ceroid lipofuscinosis, Northern epilepsy variant; CLN8 disease, Northern epilepsy variant; Progressive epilepsy-intellectual disability syndrome, Finnish type; Northern epilepsy (ORPHA:1947)
Gene: CLN8
Phenotype: Frequent falls (HP:0002359)
Associated disease: NCL, Northern epilepsy variant; Neuronal ceroid lipofuscinosis, Northern epilepsy variant; CLN8 disease, Northern epilepsy variant; Progressive epilepsy-intellectual disability syndrome, Finnish type; Northern epilepsy (ORPHA:1947)
Gene: CLN8
Phenotype: Developmental regression (HP:0002376)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8 (OMIM:600143)
Gene: CLN8
Phenotype: Loss of speech (HP:0002371)
Associated disease: NCL, Northern epilepsy variant; Neuronal ceroid lipofuscinosis, Northern epilepsy variant; CLN8 disease, Northern epilepsy variant; Progressive epilepsy-intellectual disability syndrome, Finnish type; Northern epilepsy (ORPHA:1947)
Gene: CLN8
Phenotype: EEG abnormality (HP:0002353)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT (OMIM:610003)
Gene: CLN8
Phenotype: EEG abnormality (HP:0002353)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8 (OMIM:600143)
Gene: CLN8
Phenotype: Slowly progressive (HP:0003677)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT (OMIM:610003)
Gene: CLN8
Phenotype: Unsteady gait (HP:0002317)
Associated disease: NCL, Northern epilepsy variant; Neuronal ceroid lipofuscinosis, Northern epilepsy variant; CLN8 disease, Northern epilepsy variant; Progressive epilepsy-intellectual disability syndrome, Finnish type; Northern epilepsy (ORPHA:1947)
Gene: CLN8
Phenotype: Motor deterioration (HP:0002333)
Associated disease: NCL, Northern epilepsy variant; Neuronal ceroid lipofuscinosis, Northern epilepsy variant; CLN8 disease, Northern epilepsy variant; Progressive epilepsy-intellectual disability syndrome, Finnish type; Northern epilepsy (ORPHA:1947)
Gene: CLN8
Phenotype: Vascular granular osmiophilic material deposition (HP:0003657)
Associated disease: NCL, Northern epilepsy variant; Neuronal ceroid lipofuscinosis, Northern epilepsy variant; CLN8 disease, Northern epilepsy variant; Progressive epilepsy-intellectual disability syndrome, Finnish type; Northern epilepsy (ORPHA:1947)
Gene: CLN8
Phenotype: Clumsiness (HP:0002312)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT (OMIM:610003)
Gene: CLN8
Phenotype: Clumsiness (HP:0002312)
Associated disease: NCL, Northern epilepsy variant; Neuronal ceroid lipofuscinosis, Northern epilepsy variant; CLN8 disease, Northern epilepsy variant; Progressive epilepsy-intellectual disability syndrome, Finnish type; Northern epilepsy (ORPHA:1947)
Gene: CLN8
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8 (OMIM:600143)
Gene: CLN8
Phenotype: Abnormality of pattern visual evoked potentials (HP:0030455)
Associated disease: NCL, Northern epilepsy variant; Neuronal ceroid lipofuscinosis, Northern epilepsy variant; CLN8 disease, Northern epilepsy variant; Progressive epilepsy-intellectual disability syndrome, Finnish type; Northern epilepsy (ORPHA:1947)
Gene: CLN8
Phenotype: T2 hypointense thalamus (HP:0012690)
Associated disease: NCL, Northern epilepsy variant; Neuronal ceroid lipofuscinosis, Northern epilepsy variant; CLN8 disease, Northern epilepsy variant; Progressive epilepsy-intellectual disability syndrome, Finnish type; Northern epilepsy (ORPHA:1947)
Gene: CLN8
Phenotype: Irritability (HP:0000737)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT (OMIM:610003)
Gene: CLN8
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8 (OMIM:600143)
Gene: CLN8
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NCL, Northern epilepsy variant; Neuronal ceroid lipofuscinosis, Northern epilepsy variant; CLN8 disease, Northern epilepsy variant; Progressive epilepsy-intellectual disability syndrome, Finnish type; Northern epilepsy (ORPHA:1947)
Gene: CLN8
Phenotype: Restlessness (HP:0000711)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT (OMIM:610003)
Gene: CLN8
Phenotype: Dementia (HP:0000726)
Associated disease: NCL, Northern epilepsy variant; Neuronal ceroid lipofuscinosis, Northern epilepsy variant; CLN8 disease, Northern epilepsy variant; Progressive epilepsy-intellectual disability syndrome, Finnish type; Northern epilepsy (ORPHA:1947)
Gene: CLN8
Phenotype: Autistic behavior (HP:0000729)
Associated disease: NCL, Northern epilepsy variant; Neuronal ceroid lipofuscinosis, Northern epilepsy variant; CLN8 disease, Northern epilepsy variant; Progressive epilepsy-intellectual disability syndrome, Finnish type; Northern epilepsy (ORPHA:1947)
Gene: CLN8
Phenotype: Atypical behavior (HP:0000708)
Associated disease: NCL, Northern epilepsy variant; Neuronal ceroid lipofuscinosis, Northern epilepsy variant; CLN8 disease, Northern epilepsy variant; Progressive epilepsy-intellectual disability syndrome, Finnish type; Northern epilepsy (ORPHA:1947)
Gene: CLN8
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: NCL, Northern epilepsy variant; Neuronal ceroid lipofuscinosis, Northern epilepsy variant; CLN8 disease, Northern epilepsy variant; Progressive epilepsy-intellectual disability syndrome, Finnish type; Northern epilepsy (ORPHA:1947)
Gene: CLN8
Phenotype: Childhood onset (HP:0011463)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8 (OMIM:600143)
Gene: CLN8
Phenotype: Fingerprint intracellular accumulation of autofluorescent lipopigment storage material (HP:0003208)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8 (OMIM:600143)
Gene: CLN8
Phenotype: Fingerprint intracellular accumulation of autofluorescent lipopigment storage material (HP:0003208)
Associated disease: NCL, Northern epilepsy variant; Neuronal ceroid lipofuscinosis, Northern epilepsy variant; CLN8 disease, Northern epilepsy variant; Progressive epilepsy-intellectual disability syndrome, Finnish type; Northern epilepsy (ORPHA:1947)
Gene: CLN8
Phenotype: Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)
Associated disease: NCL, Northern epilepsy variant; Neuronal ceroid lipofuscinosis, Northern epilepsy variant; CLN8 disease, Northern epilepsy variant; Progressive epilepsy-intellectual disability syndrome, Finnish type; Northern epilepsy (ORPHA:1947)
Gene: CLN8
Phenotype: Curvilinear intracellular accumulation of autofluorescent lipopigment storage material (HP:0003205)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8 (OMIM:600143)
Gene: CLN8
Phenotype: Curvilinear intracellular accumulation of autofluorescent lipopigment storage material (HP:0003205)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT (OMIM:610003)
Gene: CLN8
Phenotype: Curvilinear intracellular accumulation of autofluorescent lipopigment storage material (HP:0003205)
Associated disease: NCL, Northern epilepsy variant; Neuronal ceroid lipofuscinosis, Northern epilepsy variant; CLN8 disease, Northern epilepsy variant; Progressive epilepsy-intellectual disability syndrome, Finnish type; Northern epilepsy (ORPHA:1947)
Gene: CLN8
Phenotype: Hyperintensity of cerebral white matter on MRI (HP:0030890)
Associated disease: NCL, Northern epilepsy variant; Neuronal ceroid lipofuscinosis, Northern epilepsy variant; CLN8 disease, Northern epilepsy variant; Progressive epilepsy-intellectual disability syndrome, Finnish type; Northern epilepsy (ORPHA:1947)
Gene: CLN8
Phenotype: Motor regression (HP:0033044)
Associated disease: NCL, Northern epilepsy variant; Neuronal ceroid lipofuscinosis, Northern epilepsy variant; CLN8 disease, Northern epilepsy variant; Progressive epilepsy-intellectual disability syndrome, Finnish type; Northern epilepsy (ORPHA:1947)
Gene: CLN8
Phenotype: Miscarriage (HP:0005268)
Associated disease: NCL, Northern epilepsy variant; Neuronal ceroid lipofuscinosis, Northern epilepsy variant; CLN8 disease, Northern epilepsy variant; Progressive epilepsy-intellectual disability syndrome, Finnish type; Northern epilepsy (ORPHA:1947)
Gene: CLN8
Phenotype: EEG with generalized epileptiform discharges (HP:0011198)
Associated disease: NCL, Northern epilepsy variant; Neuronal ceroid lipofuscinosis, Northern epilepsy variant; CLN8 disease, Northern epilepsy variant; Progressive epilepsy-intellectual disability syndrome, Finnish type; Northern epilepsy (ORPHA:1947)
Gene: CLN8
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: NCL, Northern epilepsy variant; Neuronal ceroid lipofuscinosis, Northern epilepsy variant; CLN8 disease, Northern epilepsy variant; Progressive epilepsy-intellectual disability syndrome, Finnish type; Northern epilepsy (ORPHA:1947)
Gene: CLN8
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8 (OMIM:600143)
Gene: CLN8
Phenotype: Visual impairment (HP:0000505)
Associated disease: NCL, Northern epilepsy variant; Neuronal ceroid lipofuscinosis, Northern epilepsy variant; CLN8 disease, Northern epilepsy variant; Progressive epilepsy-intellectual disability syndrome, Finnish type; Northern epilepsy (ORPHA:1947)
Gene: CLN8
Phenotype: EEG with abnormally slow frequencies (HP:0011203)
Associated disease: NCL, Northern epilepsy variant; Neuronal ceroid lipofuscinosis, Northern epilepsy variant; CLN8 disease, Northern epilepsy variant; Progressive epilepsy-intellectual disability syndrome, Finnish type; Northern epilepsy (ORPHA:1947)
Gene: CLN8
Phenotype: Undetectable electroretinogram (HP:0000550)
Associated disease: NCL, Northern epilepsy variant; Neuronal ceroid lipofuscinosis, Northern epilepsy variant; CLN8 disease, Northern epilepsy variant; Progressive epilepsy-intellectual disability syndrome, Finnish type; Northern epilepsy (ORPHA:1947)
Gene: CLN8
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: NCL, Northern epilepsy variant; Neuronal ceroid lipofuscinosis, Northern epilepsy variant; CLN8 disease, Northern epilepsy variant; Progressive epilepsy-intellectual disability syndrome, Finnish type; Northern epilepsy (ORPHA:1947)
Gene: EPO
Phenotype: Elevated circulating erythropoietin concentration (HP:0033644)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 5 (OMIM:617907)
Gene: EPO
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DIAMOND-BLACKFAN ANEMIA-LIKE (OMIM:617911)
Gene: EPO
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 5 (OMIM:617907)
Gene: EPO
Phenotype: Infantile onset (HP:0003593)
Associated disease: DIAMOND-BLACKFAN ANEMIA-LIKE (OMIM:617911)
Gene: EPO
Phenotype: Increased circulating hemoglobin concentration (HP:0001900)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 5 (OMIM:617907)
Gene: EPO
Phenotype: Polycythemia (HP:0001901)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 5 (OMIM:617907)
Gene: EPO
Phenotype: Steroid-responsive anemia (HP:0033074)
Associated disease: DIAMOND-BLACKFAN ANEMIA-LIKE (OMIM:617911)
Gene: EPO
Phenotype: Pure red cell aplasia (HP:0012410)
Associated disease: DIAMOND-BLACKFAN ANEMIA-LIKE (OMIM:617911)
Gene: EPO
Phenotype: Increased hematocrit (HP:0001899)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 5 (OMIM:617907)
Gene: EPOR
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 1 (OMIM:133100)
Gene: EPOR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 1 (OMIM:133100)
Gene: EPOR
Phenotype: Peripheral thrombosis (HP:0002641)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 1 (OMIM:133100)
Gene: EPOR
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Congenital erythrocytosis due to erythropoietin receptor mutation; Primary congenital erythrocytosis; Congenital polycythemia due to erythropoietin receptor mutation; Primary familial and congenital polycythemia; PFCP; Familial erythrocytosis; Primary familial polycythemia (ORPHA:90042)
Gene: EPOR
Phenotype: Dyspnea (HP:0002094)
Associated disease: Congenital erythrocytosis due to erythropoietin receptor mutation; Primary congenital erythrocytosis; Congenital polycythemia due to erythropoietin receptor mutation; Primary familial and congenital polycythemia; PFCP; Familial erythrocytosis; Primary familial polycythemia (ORPHA:90042)
Gene: EPOR
Phenotype: Abnormal hemoglobin (HP:0011902)
Associated disease: Congenital erythrocytosis due to erythropoietin receptor mutation; Primary congenital erythrocytosis; Congenital polycythemia due to erythropoietin receptor mutation; Primary familial and congenital polycythemia; PFCP; Familial erythrocytosis; Primary familial polycythemia (ORPHA:90042)
Gene: EPOR
Phenotype: Plethora (HP:0001050)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 1 (OMIM:133100)
Gene: EPOR
Phenotype: Vertigo (HP:0002321)
Associated disease: Congenital erythrocytosis due to erythropoietin receptor mutation; Primary congenital erythrocytosis; Congenital polycythemia due to erythropoietin receptor mutation; Primary familial and congenital polycythemia; PFCP; Familial erythrocytosis; Primary familial polycythemia (ORPHA:90042)
Gene: EPOR
Phenotype: Vertigo (HP:0002321)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 1 (OMIM:133100)
Gene: EPOR
Phenotype: Headache (HP:0002315)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 1 (OMIM:133100)
Gene: EPOR
Phenotype: Headache (HP:0002315)
Associated disease: Congenital erythrocytosis due to erythropoietin receptor mutation; Primary congenital erythrocytosis; Congenital polycythemia due to erythropoietin receptor mutation; Primary familial and congenital polycythemia; PFCP; Familial erythrocytosis; Primary familial polycythemia (ORPHA:90042)
Gene: EPOR
Phenotype: Venous thrombosis (HP:0004936)
Associated disease: Congenital erythrocytosis due to erythropoietin receptor mutation; Primary congenital erythrocytosis; Congenital polycythemia due to erythropoietin receptor mutation; Primary familial and congenital polycythemia; PFCP; Familial erythrocytosis; Primary familial polycythemia (ORPHA:90042)
Gene: EPOR
Phenotype: Thromboembolism (HP:0001907)
Associated disease: Congenital erythrocytosis due to erythropoietin receptor mutation; Primary congenital erythrocytosis; Congenital polycythemia due to erythropoietin receptor mutation; Primary familial and congenital polycythemia; PFCP; Familial erythrocytosis; Primary familial polycythemia (ORPHA:90042)
Gene: EPOR
Phenotype: Increased circulating hemoglobin concentration (HP:0001900)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 1 (OMIM:133100)
Gene: EPOR
Phenotype: Polycythemia (HP:0001901)
Associated disease: Congenital erythrocytosis due to erythropoietin receptor mutation; Primary congenital erythrocytosis; Congenital polycythemia due to erythropoietin receptor mutation; Primary familial and congenital polycythemia; PFCP; Familial erythrocytosis; Primary familial polycythemia (ORPHA:90042)
Gene: EPOR
Phenotype: Cough (HP:0012735)
Associated disease: Congenital erythrocytosis due to erythropoietin receptor mutation; Primary congenital erythrocytosis; Congenital polycythemia due to erythropoietin receptor mutation; Primary familial and congenital polycythemia; PFCP; Familial erythrocytosis; Primary familial polycythemia (ORPHA:90042)
Gene: EPOR
Phenotype: Hypertension (HP:0000822)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 1 (OMIM:133100)
Gene: EPOR
Phenotype: Pruritus (HP:0000989)
Associated disease: Congenital erythrocytosis due to erythropoietin receptor mutation; Primary congenital erythrocytosis; Congenital polycythemia due to erythropoietin receptor mutation; Primary familial and congenital polycythemia; PFCP; Familial erythrocytosis; Primary familial polycythemia (ORPHA:90042)
Gene: EPOR
Phenotype: Arthralgia (HP:0002829)
Associated disease: Congenital erythrocytosis due to erythropoietin receptor mutation; Primary congenital erythrocytosis; Congenital polycythemia due to erythropoietin receptor mutation; Primary familial and congenital polycythemia; PFCP; Familial erythrocytosis; Primary familial polycythemia (ORPHA:90042)
Gene: EPOR
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 1 (OMIM:133100)
Gene: EPOR
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Congenital erythrocytosis due to erythropoietin receptor mutation; Primary congenital erythrocytosis; Congenital polycythemia due to erythropoietin receptor mutation; Primary familial and congenital polycythemia; PFCP; Familial erythrocytosis; Primary familial polycythemia (ORPHA:90042)
Gene: EPOR
Phenotype: Fatigue (HP:0012378)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 1 (OMIM:133100)
Gene: EPOR
Phenotype: Fatigue (HP:0012378)
Associated disease: Congenital erythrocytosis due to erythropoietin receptor mutation; Primary congenital erythrocytosis; Congenital polycythemia due to erythropoietin receptor mutation; Primary familial and congenital polycythemia; PFCP; Familial erythrocytosis; Primary familial polycythemia (ORPHA:90042)
Gene: EPOR
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 1 (OMIM:133100)
Gene: EPOR
Phenotype: Splenomegaly (HP:0001744)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 1 (OMIM:133100)
Gene: EPOR
Phenotype: Epistaxis (HP:0000421)
Associated disease: Congenital erythrocytosis due to erythropoietin receptor mutation; Primary congenital erythrocytosis; Congenital polycythemia due to erythropoietin receptor mutation; Primary familial and congenital polycythemia; PFCP; Familial erythrocytosis; Primary familial polycythemia (ORPHA:90042)
Gene: EPOR
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Congenital erythrocytosis due to erythropoietin receptor mutation; Primary congenital erythrocytosis; Congenital polycythemia due to erythropoietin receptor mutation; Primary familial and congenital polycythemia; PFCP; Familial erythrocytosis; Primary familial polycythemia (ORPHA:90042)
Gene: EPOR
Phenotype: Increased hematocrit (HP:0001899)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 1 (OMIM:133100)
Gene: EPOR
Phenotype: Increased red blood cell mass (HP:0001898)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 1 (OMIM:133100)
Gene: EPRS1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 15 (OMIM:617951)
Gene: EPRS1
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 15 (OMIM:617951)
Gene: EPRS1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 15 (OMIM:617951)
Gene: EPRS1
Phenotype: Motor delay (HP:0001270)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 15 (OMIM:617951)
Gene: EPRS1
Phenotype: Seizure (HP:0001250)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 15 (OMIM:617951)
Gene: EPRS1
Phenotype: Ataxia (HP:0001251)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 15 (OMIM:617951)
Gene: EPRS1
Phenotype: Dysarthria (HP:0001260)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 15 (OMIM:617951)
Gene: EPRS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 15 (OMIM:617951)
Gene: EPRS1
Phenotype: Spasticity (HP:0001257)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 15 (OMIM:617951)
Gene: EPRS1
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 15 (OMIM:617951)
Gene: EPRS1
Phenotype: Dystonia (HP:0001332)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 15 (OMIM:617951)
Gene: EPRS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 15 (OMIM:617951)
Gene: EPRS1
Phenotype: Dysphagia (HP:0002015)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 15 (OMIM:617951)
Gene: EPRS1
Phenotype: Intention tremor (HP:0002080)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 15 (OMIM:617951)
Gene: EPRS1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 15 (OMIM:617951)
Gene: EPRS1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 15 (OMIM:617951)
Gene: EPRS1
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 15 (OMIM:617951)
Gene: EPRS1
Phenotype: Prosopagnosia (HP:0010528)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 15 (OMIM:617951)
Gene: EPRS1
Phenotype: Infantile onset (HP:0003593)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 15 (OMIM:617951)
Gene: EPRS1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 15 (OMIM:617951)
Gene: EPRS1
Phenotype: Severe short stature (HP:0003510)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 15 (OMIM:617951)
Gene: EPRS1
Phenotype: Developmental regression (HP:0002376)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 15 (OMIM:617951)