TaoMedAI/RareMedData huggingface dataset:
Gene: NKX2-1
Phenotype: Congenital onset (HP:0003577)
Associated disease: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION (OMIM:610978)
Gene: NKX2-1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION (OMIM:610978)
Gene: NKX2-1
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION (OMIM:610978)
Gene: NKX2-1
Phenotype: Hypersomnia (HP:0100786)
Associated disease: Athyreosis (ORPHA:95713)
Gene: NKX2-1
Phenotype: Abnormal eating behavior (HP:0100738)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Atelectasis (HP:0100750)
Associated disease: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION (OMIM:610978)
Gene: NKX2-1
Phenotype: Schizophrenia (HP:0100753)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Athyreosis (ORPHA:95713)
Gene: NKX2-1
Phenotype: Cavum septum pellucidum (HP:0002389)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION (OMIM:610978)
Gene: NKX2-1
Phenotype: Frequent falls (HP:0002359)
Associated disease: CHOREA, BENIGN HEREDITARY (OMIM:118700)
Gene: NKX2-1
Phenotype: Cholesteatoma (HP:0009797)
Associated disease: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION (OMIM:610978)
Gene: NKX2-1
Phenotype: Parenchymal consolidation (HP:0032177)
Associated disease: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION (OMIM:610978)
Gene: NKX2-1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION (OMIM:610978)
Gene: NKX2-1
Phenotype: Incoordination (HP:0002311)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Clumsiness (HP:0002312)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Unexplained fevers (HP:0001955)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Hypodontia (HP:0000668)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Short stature (HP:0004322)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Short stature (HP:0004322)
Associated disease: Athyreosis (ORPHA:95713)
Gene: NKX2-1
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Cough (HP:0012735)
Associated disease: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION (OMIM:610978)
Gene: NKX2-1
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Benign familial chorea; Benign hereditary chorea; BHC (ORPHA:1429)
Gene: NKX2-1
Phenotype: Anxiety (HP:0000739)
Associated disease: CHOREA, BENIGN HEREDITARY (OMIM:118700)
Gene: NKX2-1
Phenotype: Short attention span (HP:0000736)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Dementia (HP:0000726)
Associated disease: CHOREA, BENIGN HEREDITARY (OMIM:118700)
Gene: NKX2-1
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Childhood onset (HP:0011463)
Associated disease: CHOREA, BENIGN HEREDITARY (OMIM:118700)
Gene: NKX2-1
Phenotype: Congenital hypothyroidism (HP:0000851)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Congenital hypothyroidism (HP:0000851)
Associated disease: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION (OMIM:610978)
Gene: NKX2-1
Phenotype: Goiter (HP:0000853)
Associated disease: THYROID CANCER, NONMEDULLARY, 1 (OMIM:188550)
Gene: NKX2-1
Phenotype: Hypoparathyroidism (HP:0000829)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Athyreosis (ORPHA:95713)
Gene: NKX2-1
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION (OMIM:610978)
Gene: NKX2-1
Phenotype: Abnormality of the thyroid gland (HP:0000820)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Oxygen desaturation on exertion (HP:0030874)
Associated disease: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION (OMIM:610978)
Gene: NKX2-1
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Athyreosis (ORPHA:95713)
Gene: NKX2-1
Phenotype: Wheezing (HP:0030828)
Associated disease: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION (OMIM:610978)
Gene: NKX2-1
Phenotype: Crackles (HP:0030830)
Associated disease: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION (OMIM:610978)
Gene: NKX2-1
Phenotype: Non-medullary thyroid carcinoma (HP:0040198)
Associated disease: THYROID CANCER, NONMEDULLARY, 1 (OMIM:188550)
Gene: NKX2-1
Phenotype: Facial edema (HP:0000282)
Associated disease: Athyreosis (ORPHA:95713)
Gene: NKX2-1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Athyreosis (ORPHA:95713)
Gene: NKX2-1
Phenotype: Abnormality of the face (HP:0000271)
Associated disease: Athyreosis (ORPHA:95713)
Gene: NKX2-1
Phenotype: Abnormal drinking behavior (HP:0030082)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Large fontanelles (HP:0000239)
Associated disease: Athyreosis (ORPHA:95713)
Gene: NKX2-1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Papillary thyroid carcinoma (HP:0002895)
Associated disease: THYROID CANCER, NONMEDULLARY, 1 (OMIM:188550)
Gene: NKX2-1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Athyreosis (ORPHA:95713)
Gene: NKX2-1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Growth delay (HP:0001510)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Growth delay (HP:0001510)
Associated disease: Athyreosis (ORPHA:95713)
Gene: NKX2-1
Phenotype: Fatigue (HP:0012378)
Associated disease: Athyreosis (ORPHA:95713)
Gene: NKX2-1
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: Athyreosis (ORPHA:95713)
Gene: NKX2-1
Phenotype: Abnormal pulmonary interstitial morphology (HP:0006530)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Hoarse cry (HP:0001615)
Associated disease: Athyreosis (ORPHA:95713)
Gene: NKX2-1
Phenotype: Elevated circulating thyroid-stimulating hormone concentration (HP:0002925)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Elevated circulating thyroid-stimulating hormone concentration (HP:0002925)
Associated disease: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION (OMIM:610978)
Gene: NKX2-1
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION (OMIM:610978)
Gene: NKX2-1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION (OMIM:610978)
Gene: NKX2-1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Elevated bronchoalveolar lavage fluid lymphocyte proportion (HP:0032976)
Associated disease: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION (OMIM:610978)
Gene: NKX2-1
Phenotype: Elevated bronchoalveolar lavage fluid neutrophil proportion (HP:0032977)
Associated disease: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION (OMIM:610978)
Gene: NKX2-1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Webbed neck (HP:0000465)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Hypoxemia (HP:0012418)
Associated disease: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION (OMIM:610978)
Gene: TK2
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: Mitochondrial DNA depletion syndrome, myopathic form; mtDNA depletion syndrome, myopathic form (ORPHA:254875)
Gene: TK2
Phenotype: Severe sensorineural hearing impairment (HP:0008625)
Associated disease: Mitochondrial DNA depletion syndrome, myopathic form; mtDNA depletion syndrome, myopathic form (ORPHA:254875)
Gene: TK2
Phenotype: Infantile sensorineural hearing impairment (HP:0008610)
Associated disease: Mitochondrial DNA depletion syndrome, myopathic form; mtDNA depletion syndrome, myopathic form (ORPHA:254875)
Gene: TK2
Phenotype: Spinal muscular atrophy (HP:0007269)
Associated disease: Mitochondrial DNA depletion syndrome, myopathic form; mtDNA depletion syndrome, myopathic form (ORPHA:254875)
Gene: TK2
Phenotype: Mitochondrial myopathy (HP:0003737)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: TK2
Phenotype: Mitochondrial myopathy (HP:0003737)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3 (OMIM:617069)
Gene: TK2
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: TK2
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3 (OMIM:617069)
Gene: TK2
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) (OMIM:609560)
Gene: TK2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Mitochondrial DNA depletion syndrome, myopathic form; mtDNA depletion syndrome, myopathic form (ORPHA:254875)
Gene: TK2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) (OMIM:609560)
Gene: TK2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: TK2
Phenotype: Motor delay (HP:0001270)
Associated disease: Mitochondrial DNA depletion syndrome, myopathic form; mtDNA depletion syndrome, myopathic form (ORPHA:254875)
Gene: TK2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Mitochondrial DNA depletion syndrome, myopathic form; mtDNA depletion syndrome, myopathic form (ORPHA:254875)
Gene: TK2
Phenotype: Bulbar palsy (HP:0001283)
Associated disease: Mitochondrial DNA depletion syndrome, myopathic form; mtDNA depletion syndrome, myopathic form (ORPHA:254875)
Gene: TK2
Phenotype: Seizure (HP:0001250)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) (OMIM:609560)
Gene: TK2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Mitochondrial DNA depletion syndrome, myopathic form; mtDNA depletion syndrome, myopathic form (ORPHA:254875)
Gene: TK2
Phenotype: Hypotonia (HP:0001252)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) (OMIM:609560)
Gene: TK2
Phenotype: Ataxia (HP:0001251)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: TK2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: TK2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Mitochondrial DNA depletion syndrome, myopathic form; mtDNA depletion syndrome, myopathic form (ORPHA:254875)
Gene: TK2
Phenotype: Dysarthria (HP:0001260)
Associated disease: Mitochondrial DNA depletion syndrome, myopathic form; mtDNA depletion syndrome, myopathic form (ORPHA:254875)
Gene: TK2
Phenotype: Dysarthria (HP:0001260)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3 (OMIM:617069)
Gene: TK2
Phenotype: Inability to walk (HP:0002540)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) (OMIM:609560)
Gene: TK2
Phenotype: Parkinsonism with favorable response to dopaminergic medication (HP:0002548)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: TK2
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: TK2
Phenotype: Death in childhood (HP:0003819)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) (OMIM:609560)
Gene: TK2
Phenotype: Facial diplegia (HP:0001349)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) (OMIM:609560)
Gene: TK2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Mitochondrial DNA depletion syndrome, myopathic form; mtDNA depletion syndrome, myopathic form (ORPHA:254875)
Gene: TK2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Mitochondrial DNA depletion syndrome, myopathic form; mtDNA depletion syndrome, myopathic form (ORPHA:254875)
Gene: TK2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3 (OMIM:617069)
Gene: TK2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) (OMIM:609560)
Gene: TK2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Mitochondrial DNA depletion syndrome, myopathic form; mtDNA depletion syndrome, myopathic form (ORPHA:254875)
Gene: TK2
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: Mitochondrial DNA depletion syndrome, myopathic form; mtDNA depletion syndrome, myopathic form (ORPHA:254875)
Gene: TK2
Phenotype: Dyschromatopsia (HP:0007641)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: TK2
Phenotype: Loss of ability to walk in early childhood (HP:0008945)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) (OMIM:609560)
Gene: TK2
Phenotype: Stooped posture (HP:0025403)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: TK2
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: Mitochondrial DNA depletion syndrome, myopathic form; mtDNA depletion syndrome, myopathic form (ORPHA:254875)
Gene: TK2
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) (OMIM:609560)
Gene: TK2
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) (OMIM:609560)
Gene: TK2
Phenotype: Myalgia (HP:0003326)
Associated disease: Mitochondrial DNA depletion syndrome, myopathic form; mtDNA depletion syndrome, myopathic form (ORPHA:254875)
Gene: TK2
Phenotype: Dysphagia (HP:0002015)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: TK2
Phenotype: Dysphagia (HP:0002015)
Associated disease: Mitochondrial DNA depletion syndrome, myopathic form; mtDNA depletion syndrome, myopathic form (ORPHA:254875)
Gene: TK2
Phenotype: Dysphagia (HP:0002015)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3 (OMIM:617069)
Gene: TK2
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Mitochondrial DNA depletion syndrome, myopathic form; mtDNA depletion syndrome, myopathic form (ORPHA:254875)
Gene: TK2
Phenotype: Ventilator dependence with inability to wean (HP:0005946)
Associated disease: Mitochondrial DNA depletion syndrome, myopathic form; mtDNA depletion syndrome, myopathic form (ORPHA:254875)
Gene: TK2
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: TK2
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Mitochondrial DNA depletion syndrome, myopathic form; mtDNA depletion syndrome, myopathic form (ORPHA:254875)
Gene: TK2
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Mitochondrial DNA depletion syndrome, myopathic form; mtDNA depletion syndrome, myopathic form (ORPHA:254875)
Gene: TK2
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Mitochondrial DNA depletion syndrome, myopathic form; mtDNA depletion syndrome, myopathic form (ORPHA:254875)
Gene: TK2
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: TK2
Phenotype: Sensory axonal neuropathy (HP:0003390)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: TK2
Phenotype: Gowers sign (HP:0003391)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) (OMIM:609560)
Gene: TK2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: TK2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) (OMIM:609560)
Gene: TK2
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3 (OMIM:617069)
Gene: TK2
Phenotype: Abnormal basal ganglia morphology (HP:0002134)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) (OMIM:609560)
Gene: TK2
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) (OMIM:609560)
Gene: TK2
Phenotype: Decreased activity of mitochondrial complex III (HP:0011924)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) (OMIM:609560)
Gene: TK2
Phenotype: Decreased activity of mitochondrial ATP synthase complex (HP:0011925)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) (OMIM:609560)
Gene: TK2
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) (OMIM:609560)
Gene: TK2
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: Mitochondrial DNA depletion syndrome, myopathic form; mtDNA depletion syndrome, myopathic form (ORPHA:254875)
Gene: TK2
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) (OMIM:609560)
Gene: TK2
Phenotype: Paresthesia (HP:0003401)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: TK2
Phenotype: Middle age onset (HP:0003596)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3 (OMIM:617069)
Gene: TK2
Phenotype: Infantile onset (HP:0003593)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) (OMIM:609560)
Gene: TK2
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: TK2
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: TK2
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Mitochondrial DNA depletion syndrome, myopathic form; mtDNA depletion syndrome, myopathic form (ORPHA:254875)
Gene: TK2
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) (OMIM:609560)
Gene: TK2
Phenotype: Facial palsy (HP:0010628)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)