TaoMedAI/RareMedData huggingface dataset:
Gene: CFTR
Phenotype: Skin plaque (HP:0200035)
Associated disease: Aquagenic palmoplantar keratoderma; Aquagenic wrinkling of the palms; Transient reactive papulotranslucent acrokeratoderma; Aquagenic syringeal acrokeratoderma; Aquagenic keratoderma (ORPHA:498359)
Gene: CFTR
Phenotype: Orthokeratotic hyperkeratosis (HP:0025080)
Associated disease: Aquagenic palmoplantar keratoderma; Aquagenic wrinkling of the palms; Transient reactive papulotranslucent acrokeratoderma; Aquagenic syringeal acrokeratoderma; Aquagenic keratoderma (ORPHA:498359)
Gene: CFTR
Phenotype: Seminal vesicle agenesis (HP:0430121)
Associated disease: Congenital bilateral aplasia of vas deferens; Congenital bilateral absence of vas deferens; Congenital bilateral agenesis of vas deferens (ORPHA:48)
Gene: CFTR
Phenotype: Abnormal thrombosis (HP:0001977)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: CFTR
Phenotype: Dehydration (HP:0001944)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: CFTR
Phenotype: Fever (HP:0001945)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: CFTR
Phenotype: Fever (HP:0001945)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: CFTR
Phenotype: Cachexia (HP:0004326)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: CFTR
Phenotype: Anxiety (HP:0000739)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CFTR
Phenotype: Depression (HP:0000716)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CFTR
Phenotype: Childhood onset (HP:0011463)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: CFTR
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: Congenital bilateral aplasia of vas deferens; Congenital bilateral absence of vas deferens; Congenital bilateral agenesis of vas deferens (ORPHA:48)
Gene: CFTR
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CFTR
Phenotype: Meconium ileus (HP:0004401)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CFTR
Phenotype: Meconium ileus (HP:0004401)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: CFTR
Phenotype: Chronic bronchitis (HP:0004469)
Associated disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 (OMIM:211400)
Gene: CFTR
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: CFTR
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: CFTR
Phenotype: Absent vas deferens (HP:0012873)
Associated disease: Congenital bilateral aplasia of vas deferens; Congenital bilateral absence of vas deferens; Congenital bilateral agenesis of vas deferens (ORPHA:48)
Gene: CFTR
Phenotype: Absent vas deferens (HP:0012873)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CFTR
Phenotype: Absent vas deferens (HP:0012873)
Associated disease: VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF (OMIM:277180)
Gene: CFTR
Phenotype: Reduced FEV1/FVC ratio (HP:0030877)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: CFTR
Phenotype: Decreased body mass index (HP:0045082)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CFTR
Phenotype: Wheezing (HP:0030828)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: CFTR
Phenotype: Crackles (HP:0030830)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: CFTR
Phenotype: Male infertility (HP:0003251)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: CFTR
Phenotype: Male infertility (HP:0003251)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CFTR
Phenotype: Male infertility (HP:0003251)
Associated disease: VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF (OMIM:277180)
Gene: CFTR
Phenotype: Male infertility (HP:0003251)
Associated disease: Congenital bilateral aplasia of vas deferens; Congenital bilateral absence of vas deferens; Congenital bilateral agenesis of vas deferens (ORPHA:48)
Gene: CFTR
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Aquagenic palmoplantar keratoderma; Aquagenic wrinkling of the palms; Transient reactive papulotranslucent acrokeratoderma; Aquagenic syringeal acrokeratoderma; Aquagenic keratoderma (ORPHA:498359)
Gene: CFTR
Phenotype: Edema (HP:0000969)
Associated disease: Aquagenic palmoplantar keratoderma; Aquagenic wrinkling of the palms; Transient reactive papulotranslucent acrokeratoderma; Aquagenic syringeal acrokeratoderma; Aquagenic keratoderma (ORPHA:498359)
Gene: CFTR
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CFTR
Phenotype: Osteopenia (HP:0000938)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CFTR
Phenotype: Elevated sweat chloride (HP:0012236)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CFTR
Phenotype: Elevated sweat chloride (HP:0012236)
Associated disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 (OMIM:211400)
Gene: CFTR
Phenotype: Elevated sweat chloride (HP:0012236)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: CFTR
Phenotype: Sinusitis (HP:0000246)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CFTR
Phenotype: Abnormal renal morphology (HP:0012210)
Associated disease: Congenital bilateral aplasia of vas deferens; Congenital bilateral absence of vas deferens; Congenital bilateral agenesis of vas deferens (ORPHA:48)
Gene: CFTR
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: CFTR
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CFTR
Phenotype: Recurrent Burkholderia cepacia infections (HP:0002842)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CFTR
Phenotype: Pancreatic calcification (HP:0005213)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: CFTR
Phenotype: Pancreatic pseudocyst (HP:0005206)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: CFTR
Phenotype: Recurrent bronchopulmonary infections (HP:0006538)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: CFTR
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: CFTR
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: CFTR
Phenotype: Airway obstruction (HP:0006536)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CFTR
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CFTR
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CFTR
Phenotype: Cor pulmonale (HP:0001648)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: CFTR
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: CFTR
Phenotype: Recurrent Haemophilus influenzae infections (HP:0005376)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CFTR
Phenotype: Recurrent Haemophilus influenzae infections (HP:0005376)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: CFTR
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: CFTR
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: CFTR
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CFTR
Phenotype: Pancreatitis (HP:0001733)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: CFTR
Phenotype: Pancreatitis (HP:0001733)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: CFTR
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: CFTR
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: Aquagenic palmoplantar keratoderma; Aquagenic wrinkling of the palms; Transient reactive papulotranslucent acrokeratoderma; Aquagenic syringeal acrokeratoderma; Aquagenic keratoderma (ORPHA:498359)
Gene: CEACAM3
Phenotype: Nontuberculous mycobacterial pulmonary infection (HP:0032261)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM3
Phenotype: Steatorrhea (HP:0002570)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM3
Phenotype: Reduced forced expiratory volume in one second (HP:0032342)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM3
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM3
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM3
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM3
Phenotype: Recurrent Staphylococcus aureus infections (HP:0002726)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM3
Phenotype: Recurrent Aspergillus infections (HP:0002724)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM3
Phenotype: Malabsorption (HP:0002024)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM3
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM3
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM3
Phenotype: Asthma (HP:0002099)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM3
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM3
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM3
Phenotype: Pneumothorax (HP:0002107)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM3
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM3
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM3
Phenotype: Anxiety (HP:0000739)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM3
Phenotype: Depression (HP:0000716)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM3
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM3
Phenotype: Meconium ileus (HP:0004401)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM3
Phenotype: Absent vas deferens (HP:0012873)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM3
Phenotype: Decreased body mass index (HP:0045082)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM3
Phenotype: Male infertility (HP:0003251)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM3
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM3
Phenotype: Osteopenia (HP:0000938)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM3
Phenotype: Elevated sweat chloride (HP:0012236)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM3
Phenotype: Sinusitis (HP:0000246)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM3
Phenotype: Recurrent Burkholderia cepacia infections (HP:0002842)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM3
Phenotype: Airway obstruction (HP:0006536)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM3
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM3
Phenotype: Recurrent Haemophilus influenzae infections (HP:0005376)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CEACAM3
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CHAT
Phenotype: Poor head control (HP:0002421)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Motor delay (HP:0001270)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Bulbar palsy (HP:0001283)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC (OMIM:254210)
Gene: CHAT
Phenotype: Bulbar palsy (HP:0001283)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Areflexia (HP:0001284)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Seizure (HP:0001250)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Hypotonia (HP:0001252)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Ataxia (HP:0001251)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Waddling gait (HP:0002515)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC (OMIM:254210)
Gene: CHAT
Phenotype: Staring gaze (HP:0025401)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC (OMIM:254210)
Gene: CHAT
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Poor suck (HP:0002033)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC (OMIM:254210)
Gene: CHAT
Phenotype: Poor suck (HP:0002033)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Frontalis muscle weakness (HP:0004661)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Dysphagia (HP:0002015)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC (OMIM:254210)
Gene: CHAT
Phenotype: Dysphagia (HP:0002015)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Respiratory arrest (HP:0005943)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Respiratory distress (HP:0002098)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC (OMIM:254210)
Gene: CHAT
Phenotype: Generalized hypotonia due to defect at the neuromuscular junction (HP:0003397)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC (OMIM:254210)
Gene: CHAT
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Fatigable weakness (HP:0003473)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC (OMIM:254210)
Gene: CHAT
Phenotype: Fatigable weakness (HP:0003473)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Decreased miniature endplate potentials (HP:0003402)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC (OMIM:254210)
Gene: CHAT
Phenotype: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC (OMIM:254210)
Gene: CHAT
Phenotype: Central sleep apnea (HP:0010536)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Congenital onset (HP:0003577)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC (OMIM:254210)
Gene: CHAT
Phenotype: Type 2 muscle fiber atrophy (HP:0003554)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC (OMIM:254210)
Gene: CHAT
Phenotype: Episodic respiratory distress (HP:0004885)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Intermittent episodes of respiratory insufficiency due to muscle weakness (HP:0004889)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: EEG with polyspike wave complexes (HP:0002392)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Neuropathic spinal arthropathy (HP:0008443)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC (OMIM:254210)
Gene: CHAT
Phenotype: Motor polyneuropathy (HP:0007178)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Nystagmus (HP:0000639)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Diplopia (HP:0000651)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Nasal regurgitation (HP:0011469)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Narrow jaw (HP:0012801)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Choking episodes (HP:0030842)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Stridor (HP:0010307)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: EMG: impaired neuromuscular transmission (HP:0100285)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Cyanosis (HP:0000961)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Muscle fiber atrophy (HP:0100295)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Long face (HP:0000276)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC (OMIM:254210)
Gene: CHAT
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Sudden episodic apnea (HP:0002882)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC (OMIM:254210)
Gene: CHAT
Phenotype: Sudden episodic apnea (HP:0002882)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: High palate (HP:0000218)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Apneic episodes precipitated by illness, fatigue, stress (HP:0002872)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC (OMIM:254210)
Gene: CHAT
Phenotype: Apneic episodes precipitated by illness, fatigue, stress (HP:0002872)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Anti-neuromuscular Junction acetylcholine receptor antibody positivity (HP:0030208)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC (OMIM:254210)
Gene: CHAT
Phenotype: Anti-neuromuscular Junction acetylcholine receptor antibody positivity (HP:0030208)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Dysphonia (HP:0001618)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Weak cry (HP:0001612)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC (OMIM:254210)
Gene: CHAT
Phenotype: Weak cry (HP:0001612)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Low-set ears (HP:0000369)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Microretrognathia (HP:0000308)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Strabismus (HP:0000486)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC (OMIM:254210)