TaoMedAI/RareMedData huggingface dataset:
Gene: NR4A2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: NR4A2
Phenotype: Dysarthria (HP:0001260)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: NR4A2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM (OMIM:619911)
Gene: NR4A2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: NR4A2
Phenotype: Neuronal loss in central nervous system (HP:0002529)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: NR4A2
Phenotype: Rheumatoid arthritis (HP:0001370)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: NR4A2
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: NR4A2
Phenotype: Dystonia (HP:0001332)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: NR4A2
Phenotype: Dystonia (HP:0001332)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM (OMIM:619911)
Gene: NR4A2
Phenotype: Urinary urgency (HP:0000012)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: NR4A2
Phenotype: Tremor (HP:0001337)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: NR4A2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: NR4A2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM (OMIM:619911)
Gene: NR4A2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: NR4A2
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: NR4A2
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: NR4A2
Phenotype: Parkinsonism (HP:0001300)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM (OMIM:619911)
Gene: NR4A2
Phenotype: Parkinsonism (HP:0001300)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: NR4A2
Phenotype: Paresis of extensor muscles of the big toe (HP:0002601)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: NR4A2
Phenotype: Abnormal oral frenulum morphology (HP:0000190)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: NR4A2
Phenotype: Cleft palate (HP:0000175)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: NR4A2
Phenotype: Constipation (HP:0002019)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: NR4A2
Phenotype: Dysphagia (HP:0002015)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: NR4A2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM (OMIM:619911)
Gene: NR4A2
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: NR4A2
Phenotype: Bradykinesia (HP:0002067)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM (OMIM:619911)
Gene: NR4A2
Phenotype: Bradykinesia (HP:0002067)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: NR4A2
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: NR4A2
Phenotype: Rigidity (HP:0002063)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: NR4A2
Phenotype: Rigidity (HP:0002063)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM (OMIM:619911)
Gene: NR4A2
Phenotype: Rigidity (HP:0002063)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: NR4A2
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: NR4A2
Phenotype: Babinski sign (HP:0003487)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: NR4A2
Phenotype: Impaired vibration sensation in the lower limbs (HP:0002166)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: NR4A2
Phenotype: Postural tremor (HP:0002174)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: NR4A2
Phenotype: Postural tremor (HP:0002174)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM (OMIM:619911)
Gene: NR4A2
Phenotype: Postural instability (HP:0002172)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: NR4A2
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: NR4A2
Phenotype: Transient hyperphenylalaninemia (HP:0008297)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: NR4A2
Phenotype: Infantile onset (HP:0003593)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM (OMIM:619911)
Gene: NR4A2
Phenotype: Insidious onset (HP:0003587)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: NR4A2
Phenotype: Late onset (HP:0003584)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: NR4A2
Phenotype: Adult onset (HP:0003581)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: NR4A2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM (OMIM:619911)
Gene: NR4A2
Phenotype: Substantia nigra gliosis (HP:0011960)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: NR4A2
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: NR4A2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: NR4A2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: NR4A2
Phenotype: Progressive (HP:0003676)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: NR4A2
Phenotype: Resting tremor (HP:0002322)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM (OMIM:619911)
Gene: NR4A2
Phenotype: Resting tremor (HP:0002322)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: NR4A2
Phenotype: Clumsiness (HP:0002312)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM (OMIM:619911)
Gene: NR4A2
Phenotype: Akinesia (HP:0002304)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM (OMIM:619911)
Gene: NR4A2
Phenotype: Freezing of gait (HP:0031825)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM (OMIM:619911)
Gene: NR4A2
Phenotype: Bullet-shaped distal phalanx of the hallux (HP:0010078)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: NR4A2
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: NR4A2
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: NR4A2
Phenotype: Micrographia (HP:0031908)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: NR4A2
Phenotype: Focal dystonia (HP:0004373)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: NR4A2
Phenotype: Personality changes (HP:0000751)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: NR4A2
Phenotype: Hallucinations (HP:0000738)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: NR4A2
Phenotype: Anxiety (HP:0000739)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: NR4A2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM (OMIM:619911)
Gene: NR4A2
Phenotype: Depression (HP:0000716)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: NR4A2
Phenotype: Depression (HP:0000716)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: NR4A2
Phenotype: Dementia (HP:0000726)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: NR4A2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: NR4A2
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: NR4A2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: NR4A2
Phenotype: Childhood onset (HP:0011463)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM (OMIM:619911)
Gene: NR4A2
Phenotype: Lewy bodies (HP:0100315)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: NR4A2
Phenotype: Hypertension (HP:0000822)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: NR4A2
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: NR4A2
Phenotype: Progressive flexion contractures (HP:0005876)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: NR4A2
Phenotype: Thinning of the substantia nigra pars compacta (HP:0034316)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM (OMIM:619911)
Gene: NR4A2
Phenotype: Abnormal substantia nigra morphology (HP:0045007)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: NR4A2
Phenotype: Mask-like facies (HP:0000298)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: NR4A2
Phenotype: Small face (HP:0000274)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: NR4A2
Phenotype: EMG: positive sharp waves (HP:0030007)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM (OMIM:619911)
Gene: NR4A2
Phenotype: Central apnea (HP:0002871)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: NR4A2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: NR4A2
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: NR4A2
Phenotype: Growth delay (HP:0001510)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: NR4A2
Phenotype: Fatigue (HP:0012378)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: NR4A2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: NR4A2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: NR4A2
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: NR4A2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: NR4A2
Phenotype: Short philtrum (HP:0000322)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: NR4A2
Phenotype: Weak voice (HP:0001621)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: NR4A2
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM (OMIM:619911)
Gene: NR4A2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: NR4A2
Phenotype: Torticollis (HP:0000473)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: NR4A2
Phenotype: Short neck (HP:0000470)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: NR4A2
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: NR4A2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: NR4A2
Phenotype: Pes cavus (HP:0001761)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: NR4A2
Phenotype: Cataract (HP:0000518)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: NR4A2
Phenotype: Abnormality iris morphology (HP:0000525)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: NR4A2
Phenotype: Coloboma (HP:0000589)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: NR4A2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: GPR143
Phenotype: Ocular albinism (HP:0001107)
Associated disease: X-linked recessive ocular albinism; Ocular albinism type 1; XLOA; Ocular albinism, Nettleship-Falls type; OA1 (ORPHA:54)
Gene: GPR143
Phenotype: Ocular albinism (HP:0001107)
Associated disease: ALBINISM, OCULAR, TYPE I (OMIM:300500)
Gene: GPR143
Phenotype: Abnormal macular morphology (HP:0001103)
Associated disease: X-linked recessive ocular albinism; Ocular albinism type 1; XLOA; Ocular albinism, Nettleship-Falls type; OA1 (ORPHA:54)
Gene: GPR143
Phenotype: Nystagmus-induced head nodding (HP:0001361)
Associated disease: ALBINISM, OCULAR, TYPE I (OMIM:300500)
Gene: GPR143
Phenotype: Freckling (HP:0001480)
Associated disease: X-linked recessive ocular albinism; Ocular albinism type 1; XLOA; Ocular albinism, Nettleship-Falls type; OA1 (ORPHA:54)
Gene: GPR143
Phenotype: Depigmented fundus (HP:0007680)
Associated disease: ALBINISM, OCULAR, TYPE I (OMIM:300500)
Gene: GPR143
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: ALBINISM, OCULAR, TYPE I (OMIM:300500)
Gene: GPR143
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: NYSTAGMUS 6, CONGENITAL, X-LINKED (OMIM:300814)
Gene: GPR143
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: NYSTAGMUS 6, CONGENITAL, X-LINKED (OMIM:300814)
Gene: GPR143
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: ALBINISM, OCULAR, TYPE I (OMIM:300500)