TaoMedAI/RareMedData huggingface dataset:
Gene: SELENOI
Phenotype: Progressive spastic paraparesis (HP:0007199)
Associated disease: Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction; Autosomal recessive complex SPG due to Kennedy pathway dysfunction; Autosomal recessive spastic paraplegia type 81 (ORPHA:506353)
Gene: SELENOI
Phenotype: Optic atrophy (HP:0000648)
Associated disease: SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE (OMIM:618768)
Gene: SELENOI
Phenotype: Hyporeflective spaces on macular OCT (HP:0030625)
Associated disease: Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction; Autosomal recessive complex SPG due to Kennedy pathway dysfunction; Autosomal recessive spastic paraplegia type 81 (ORPHA:506353)
Gene: SELENOI
Phenotype: Upper limb spasticity (HP:0006986)
Associated disease: SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE (OMIM:618768)
Gene: SELENOI
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction; Autosomal recessive complex SPG due to Kennedy pathway dysfunction; Autosomal recessive spastic paraplegia type 81 (ORPHA:506353)
Gene: SELENOI
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE (OMIM:618768)
Gene: SELENOI
Phenotype: Ankle clonus (HP:0011448)
Associated disease: Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction; Autosomal recessive complex SPG due to Kennedy pathway dysfunction; Autosomal recessive spastic paraplegia type 81 (ORPHA:506353)
Gene: SELENOI
Phenotype: Ankle clonus (HP:0011448)
Associated disease: SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE (OMIM:618768)
Gene: SELENOI
Phenotype: Retinal vascular tortuosity (HP:0012841)
Associated disease: SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE (OMIM:618768)
Gene: SELENOI
Phenotype: Periventricular white matter hyperintensities (HP:0030891)
Associated disease: SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE (OMIM:618768)
Gene: SELENOI
Phenotype: Motor regression (HP:0033044)
Associated disease: SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE (OMIM:618768)
Gene: SELENOI
Phenotype: Central retinal vessel vascular tortuosity (HP:0007768)
Associated disease: Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction; Autosomal recessive complex SPG due to Kennedy pathway dysfunction; Autosomal recessive spastic paraplegia type 81 (ORPHA:506353)
Gene: SELENOI
Phenotype: Microcephaly (HP:0000252)
Associated disease: SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE (OMIM:618768)
Gene: SELENOI
Phenotype: Microcephaly (HP:0000252)
Associated disease: Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction; Autosomal recessive complex SPG due to Kennedy pathway dysfunction; Autosomal recessive spastic paraplegia type 81 (ORPHA:506353)
Gene: SELENOI
Phenotype: Retinal pigment epithelial mottling (HP:0007814)
Associated disease: Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction; Autosomal recessive complex SPG due to Kennedy pathway dysfunction; Autosomal recessive spastic paraplegia type 81 (ORPHA:506353)
Gene: SELENOI
Phenotype: Tetraplegia/tetraparesis (HP:0030182)
Associated disease: Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction; Autosomal recessive complex SPG due to Kennedy pathway dysfunction; Autosomal recessive spastic paraplegia type 81 (ORPHA:506353)
Gene: SELENOI
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE (OMIM:618768)
Gene: GFM1
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 (OMIM:609060)
Gene: GFM1
Phenotype: Hypertonia (HP:0001276)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 (OMIM:609060)
Gene: GFM1
Phenotype: Motor delay (HP:0001270)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 (OMIM:609060)
Gene: GFM1
Phenotype: Seizure (HP:0001250)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 (OMIM:609060)
Gene: GFM1
Phenotype: Spasticity (HP:0001257)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 (OMIM:609060)
Gene: GFM1
Phenotype: Cholestasis (HP:0001396)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 (OMIM:609060)
Gene: GFM1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 (OMIM:609060)
Gene: GFM1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 (OMIM:609060)
Gene: GFM1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 (OMIM:609060)
Gene: GFM1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 (OMIM:609060)
Gene: GFM1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 (OMIM:609060)
Gene: GFM1
Phenotype: Decreased activity of mitochondrial complex III (HP:0011924)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 (OMIM:609060)
Gene: GFM1
Phenotype: Decreased activity of mitochondrial ATP synthase complex (HP:0011925)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 (OMIM:609060)
Gene: GFM1
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 (OMIM:609060)
Gene: GFM1
Phenotype: Congenital onset (HP:0003577)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 (OMIM:609060)
Gene: GFM1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 (OMIM:609060)
Gene: GFM1
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 (OMIM:609060)
Gene: GFM1
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 (OMIM:609060)
Gene: GFM1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 (OMIM:609060)
Gene: GFM1
Phenotype: Hypokinesia (HP:0002375)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 (OMIM:609060)
Gene: GFM1
Phenotype: Nystagmus (HP:0000639)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 (OMIM:609060)
Gene: GFM1
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 (OMIM:609060)
Gene: GFM1
Phenotype: Fulminant hepatic failure (HP:0004448)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 (OMIM:609060)
Gene: GFM1
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 (OMIM:609060)
Gene: GFM1
Phenotype: Microcephaly (HP:0000252)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 (OMIM:609060)
Gene: GFM1
Phenotype: Elevated lactate:pyruvate ratio (HP:0032653)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 (OMIM:609060)
Gene: GFM1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 (OMIM:609060)
Gene: GFM1
Phenotype: Delayed myelination (HP:0012448)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 (OMIM:609060)
Gene: GFM1
Phenotype: Basal ganglia cysts (HP:0006799)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 (OMIM:609060)
Gene: DRC2
Phenotype: Peribronchovascular interstitial thickening (HP:0025177)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC2
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC2
Phenotype: Clubbing (HP:0001217)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 27 (OMIM:615504)
Gene: DRC2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 27 (OMIM:615504)
Gene: DRC2
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC2
Phenotype: Lithoptysis (HP:0032543)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC2
Phenotype: Productive cough (HP:0031245)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC2
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC2
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC2
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC2
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 27 (OMIM:615504)
Gene: DRC2
Phenotype: Female infertility (HP:0008222)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC2
Phenotype: Infantile onset (HP:0003593)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 27 (OMIM:615504)
Gene: DRC2
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC2
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 27 (OMIM:615504)
Gene: DRC2
Phenotype: Atelectasis (HP:0100750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC2
Phenotype: Abnormal sputum (HP:0032016)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC2
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC2
Phenotype: Respiratory insufficiency due to defective ciliary clearance (HP:0200073)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 27 (OMIM:615504)
Gene: DRC2
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC2
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC2
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC2
Phenotype: Chronic bronchitis (HP:0004469)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 27 (OMIM:615504)
Gene: DRC2
Phenotype: Atrial situs ambiguous (HP:0011539)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC2
Phenotype: Abnormal atrial arrangement (HP:0011535)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC2
Phenotype: Wheezing (HP:0030828)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC2
Phenotype: Male infertility (HP:0003251)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC2
Phenotype: Pulmonary situs ambiguus (HP:0011617)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC2
Phenotype: Decreased nasal nitric oxide (HP:0033036)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 27 (OMIM:615504)
Gene: DRC2
Phenotype: Abnormal inferior vena cava morphology (HP:0025576)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC2
Phenotype: Ciliary dyskinesia (HP:0012265)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 27 (OMIM:615504)
Gene: DRC2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC2
Phenotype: Abnormal sperm motility (HP:0012206)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC2
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC2
Phenotype: Rhinitis (HP:0012384)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 27 (OMIM:615504)
Gene: DRC2
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC2
Phenotype: Airway obstruction (HP:0006536)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC2
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC2
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 27 (OMIM:615504)
Gene: DRC2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC2
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC2
Phenotype: Ectopic pregnancy (HP:0031456)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC2
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC2
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC2
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC2
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 27 (OMIM:615504)
Gene: DRC2
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC2
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC2
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC2
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 27 (OMIM:615504)
Gene: DRC2
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 27 (OMIM:615504)
Gene: DRC2
Phenotype: Asplenia (HP:0001746)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC2
Phenotype: Polysplenia (HP:0001748)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC2
Phenotype: Nasal congestion (HP:0001742)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC2
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC2
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: HSFY1
Phenotype: Azoospermia (HP:0000027)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: HSFY1
Phenotype: Y-linked inheritance (HP:0001450)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: HSFY1
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: HSFY1
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: PNPT1
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: Combined oxidative phosphorylation defect type 13; COXPD13 (ORPHA:319514)
Gene: PNPT1
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 (OMIM:614932)
Gene: PNPT1
Phenotype: Spastic dysarthria (HP:0002464)
Associated disease: Spinocerebellar ataxia type 25; SCA25 (ORPHA:101111)
Gene: PNPT1
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Combined oxidative phosphorylation defect type 13; COXPD13 (ORPHA:319514)
Gene: PNPT1
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: Spinocerebellar ataxia type 25; SCA25 (ORPHA:101111)
Gene: PNPT1
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: SPINOCEREBELLAR ATAXIA 25 (OMIM:608703)
Gene: PNPT1
Phenotype: Poor head control (HP:0002421)
Associated disease: Combined oxidative phosphorylation defect type 13; COXPD13 (ORPHA:319514)
Gene: PNPT1
Phenotype: Poor head control (HP:0002421)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 (OMIM:614932)
Gene: PNPT1
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 (OMIM:614932)
Gene: PNPT1
Phenotype: Encephalopathy (HP:0001298)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 (OMIM:614932)
Gene: PNPT1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Combined oxidative phosphorylation defect type 13; COXPD13 (ORPHA:319514)
Gene: PNPT1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA 25 (OMIM:608703)
Gene: PNPT1
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Combined oxidative phosphorylation defect type 13; COXPD13 (ORPHA:319514)
Gene: PNPT1
Phenotype: Ataxia (HP:0001251)
Associated disease: SPINOCEREBELLAR ATAXIA 25 (OMIM:608703)
Gene: PNPT1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 (OMIM:614932)
Gene: PNPT1
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: Combined oxidative phosphorylation defect type 13; COXPD13 (ORPHA:319514)
Gene: PNPT1
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 (OMIM:614932)
Gene: PNPT1
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA 25 (OMIM:608703)
Gene: PNPT1
Phenotype: Episodic abdominal pain (HP:0002574)
Associated disease: Spinocerebellar ataxia type 25; SCA25 (ORPHA:101111)
Gene: PNPT1
Phenotype: Abnormal corpus striatum morphology (HP:0010994)
Associated disease: Combined oxidative phosphorylation defect type 13; COXPD13 (ORPHA:319514)
Gene: PNPT1
Phenotype: Areflexia of lower limbs (HP:0002522)
Associated disease: Spinocerebellar ataxia type 25; SCA25 (ORPHA:101111)
Gene: PNPT1
Phenotype: Areflexia of lower limbs (HP:0002522)
Associated disease: SPINOCEREBELLAR ATAXIA 25 (OMIM:608703)
Gene: PNPT1
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: SPINOCEREBELLAR ATAXIA 25 (OMIM:608703)
Gene: PNPT1
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Combined oxidative phosphorylation defect type 13; COXPD13 (ORPHA:319514)
Gene: PNPT1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 (OMIM:614932)
Gene: PNPT1
Phenotype: Dystonia (HP:0001332)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 (OMIM:614932)
Gene: PNPT1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Combined oxidative phosphorylation defect type 13; COXPD13 (ORPHA:319514)
Gene: PNPT1
Phenotype: Absent speech (HP:0001344)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 (OMIM:614932)
Gene: PNPT1
Phenotype: Absent speech (HP:0001344)
Associated disease: Combined oxidative phosphorylation defect type 13; COXPD13 (ORPHA:319514)
Gene: PNPT1
Phenotype: Urinary urgency (HP:0000012)
Associated disease: Spinocerebellar ataxia type 25; SCA25 (ORPHA:101111)
Gene: PNPT1
Phenotype: Urinary urgency (HP:0000012)
Associated disease: SPINOCEREBELLAR ATAXIA 25 (OMIM:608703)
Gene: PNPT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 (OMIM:614932)
Gene: PNPT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 70 (OMIM:614934)
Gene: PNPT1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPINOCEREBELLAR ATAXIA 25 (OMIM:608703)
Gene: PNPT1
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPINOCEREBELLAR ATAXIA 25 (OMIM:608703)
Gene: PNPT1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Spinocerebellar ataxia type 25; SCA25 (ORPHA:101111)
Gene: PNPT1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Spinocerebellar ataxia type 25; SCA25 (ORPHA:101111)
Gene: PNPT1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: SPINOCEREBELLAR ATAXIA 25 (OMIM:608703)
Gene: PNPT1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Combined oxidative phosphorylation defect type 13; COXPD13 (ORPHA:319514)
Gene: PNPT1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 (OMIM:614932)
Gene: PNPT1
Phenotype: Vomiting (HP:0002013)
Associated disease: Spinocerebellar ataxia type 25; SCA25 (ORPHA:101111)
Gene: PNPT1
Phenotype: Vomiting (HP:0002013)
Associated disease: SPINOCEREBELLAR ATAXIA 25 (OMIM:608703)
Gene: PNPT1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 70 (OMIM:614934)
Gene: PNPT1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Spinocerebellar ataxia type 25; SCA25 (ORPHA:101111)
Gene: PNPT1
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: Spinocerebellar ataxia type 25; SCA25 (ORPHA:101111)
Gene: PNPT1
Phenotype: Decreased number of large peripheral myelinated nerve fibers (HP:0003387)
Associated disease: Spinocerebellar ataxia type 25; SCA25 (ORPHA:101111)
Gene: PNPT1
Phenotype: Decreased number of peripheral myelinated nerve fibers (HP:0003380)
Associated disease: SPINOCEREBELLAR ATAXIA 25 (OMIM:608703)
Gene: PNPT1
Phenotype: Babinski sign (HP:0003487)
Associated disease: Spinocerebellar ataxia type 25; SCA25 (ORPHA:101111)
Gene: PNPT1
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPINOCEREBELLAR ATAXIA 25 (OMIM:608703)
Gene: PNPT1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: Combined oxidative phosphorylation defect type 13; COXPD13 (ORPHA:319514)
Gene: PNPT1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 (OMIM:614932)
Gene: PNPT1
Phenotype: Abnormal basal ganglia morphology (HP:0002134)
Associated disease: Combined oxidative phosphorylation defect type 13; COXPD13 (ORPHA:319514)
Gene: PNPT1
Phenotype: EMG: neuropathic changes (HP:0003445)
Associated disease: Spinocerebellar ataxia type 25; SCA25 (ORPHA:101111)
Gene: PNPT1
Phenotype: Infantile onset (HP:0003593)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 (OMIM:614932)
Gene: PNPT1
Phenotype: Type 2 muscle fiber atrophy (HP:0003554)
Associated disease: Combined oxidative phosphorylation defect type 13; COXPD13 (ORPHA:319514)
Gene: PNPT1
Phenotype: Subsarcolemmal accumulations of abnormally shaped mitochondria (HP:0003548)
Associated disease: Combined oxidative phosphorylation defect type 13; COXPD13 (ORPHA:319514)
Gene: PNPT1
Phenotype: Mitochondrial respiratory chain defects (HP:0200125)
Associated disease: Combined oxidative phosphorylation defect type 13; COXPD13 (ORPHA:319514)
Gene: PNPT1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Combined oxidative phosphorylation defect type 13; COXPD13 (ORPHA:319514)
Gene: PNPT1
Phenotype: Profound static encephalopathy (HP:0007069)
Associated disease: Combined oxidative phosphorylation defect type 13; COXPD13 (ORPHA:319514)
Gene: PNPT1
Phenotype: Dyskinesia (HP:0100660)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 (OMIM:614932)
Gene: PNPT1
Phenotype: Orofacial dyskinesia (HP:0002310)
Associated disease: Combined oxidative phosphorylation defect type 13; COXPD13 (ORPHA:319514)
Gene: PNPT1
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 (OMIM:614932)