TaoMedAI/RareMedData huggingface dataset:
Gene: CFL2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: NEMALINE MYOPATHY 7 (OMIM:610687)
Gene: CFL2
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: CFL2
Phenotype: Fatigable weakness of distal limb muscles (HP:0030198)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: CFL2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: CFL2
Phenotype: Breech presentation (HP:0001623)
Associated disease: NEMALINE MYOPATHY 7 (OMIM:610687)
Gene: CFL2
Phenotype: Genu varum (HP:0002970)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: CFL2
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: NEMALINE MYOPATHY 7 (OMIM:610687)
Gene: CFL2
Phenotype: Short neck (HP:0000470)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: CFL2
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: NEMALINE MYOPATHY 7 (OMIM:610687)
Gene: CFL2
Phenotype: Pes planus (HP:0001763)
Associated disease: NEMALINE MYOPATHY 7 (OMIM:610687)
Gene: CFL2
Phenotype: Ptosis (HP:0000508)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: CFL2
Phenotype: Fatty replacement of skeletal muscle (HP:0012548)
Associated disease: NEMALINE MYOPATHY 7 (OMIM:610687)
Gene: CTSC
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: HAIM-MUNK SYNDROME (OMIM:245010)
Gene: CTSC
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: PLS; Keratosis palmoplantar-periodontopathy syndrome; Papillon-Lefèvre syndrome (ORPHA:678)
Gene: CTSC
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Palmoplantar keratoderma-periodontopathia-onychogryposis syndrome; Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome; Haim-Munk syndrome; Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome (ORPHA:2342)
Gene: CTSC
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Palmoplantar keratoderma-periodontopathia-onychogryposis syndrome; Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome; Haim-Munk syndrome; Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome (ORPHA:2342)
Gene: CTSC
Phenotype: Recurrent cutaneous abscess formation (HP:0100838)
Associated disease: PLS; Keratosis palmoplantar-periodontopathy syndrome; Papillon-Lefèvre syndrome (ORPHA:678)
Gene: CTSC
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: PLS; Keratosis palmoplantar-periodontopathy syndrome; Papillon-Lefèvre syndrome (ORPHA:678)
Gene: CTSC
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: PLS; Keratosis palmoplantar-periodontopathy syndrome; Papillon-Lefèvre syndrome (ORPHA:678)
Gene: CTSC
Phenotype: Tapering pointed ends of distal finger phalanges (HP:0006224)
Associated disease: HAIM-MUNK SYNDROME (OMIM:245010)
Gene: CTSC
Phenotype: Congenital palmoplantar hyperkeratosis (HP:0007545)
Associated disease: HAIM-MUNK SYNDROME (OMIM:245010)
Gene: CTSC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PERIODONTITIS, AGGRESSIVE, 1 (OMIM:170650)
Gene: CTSC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HAIM-MUNK SYNDROME (OMIM:245010)
Gene: CTSC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PAPILLON-LEFEVRE SYNDROME (OMIM:245000)
Gene: CTSC
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: PLS; Keratosis palmoplantar-periodontopathy syndrome; Papillon-Lefèvre syndrome (ORPHA:678)
Gene: CTSC
Phenotype: Severe periodontitis (HP:0000166)
Associated disease: PERIODONTITIS, AGGRESSIVE, 1 (OMIM:170650)
Gene: CTSC
Phenotype: Severe periodontitis (HP:0000166)
Associated disease: HAIM-MUNK SYNDROME (OMIM:245010)
Gene: CTSC
Phenotype: Severe periodontitis (HP:0000166)
Associated disease: PAPILLON-LEFEVRE SYNDROME (OMIM:245000)
Gene: CTSC
Phenotype: Severe periodontitis (HP:0000166)
Associated disease: PLS; Keratosis palmoplantar-periodontopathy syndrome; Papillon-Lefèvre syndrome (ORPHA:678)
Gene: CTSC
Phenotype: Osteolysis (HP:0002797)
Associated disease: PLS; Keratosis palmoplantar-periodontopathy syndrome; Papillon-Lefèvre syndrome (ORPHA:678)
Gene: CTSC
Phenotype: Premature loss of primary teeth (HP:0006323)
Associated disease: Palmoplantar keratoderma-periodontopathia-onychogryposis syndrome; Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome; Haim-Munk syndrome; Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome (ORPHA:2342)
Gene: CTSC
Phenotype: Premature loss of primary teeth (HP:0006323)
Associated disease: PLS; Keratosis palmoplantar-periodontopathy syndrome; Papillon-Lefèvre syndrome (ORPHA:678)
Gene: CTSC
Phenotype: Atrophy of alveolar ridges (HP:0006308)
Associated disease: PAPILLON-LEFEVRE SYNDROME (OMIM:245000)
Gene: CTSC
Phenotype: Atrophy of alveolar ridges (HP:0006308)
Associated disease: PLS; Keratosis palmoplantar-periodontopathy syndrome; Papillon-Lefèvre syndrome (ORPHA:678)
Gene: CTSC
Phenotype: Alveolar bone loss around teeth (HP:0410027)
Associated disease: Palmoplantar keratoderma-periodontopathia-onychogryposis syndrome; Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome; Haim-Munk syndrome; Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome (ORPHA:2342)
Gene: CTSC
Phenotype: Liver abscess (HP:0100523)
Associated disease: PLS; Keratosis palmoplantar-periodontopathy syndrome; Papillon-Lefèvre syndrome (ORPHA:678)
Gene: CTSC
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: PLS; Keratosis palmoplantar-periodontopathy syndrome; Papillon-Lefèvre syndrome (ORPHA:678)
Gene: CTSC
Phenotype: Sparse body hair (HP:0002231)
Associated disease: PLS; Keratosis palmoplantar-periodontopathy syndrome; Papillon-Lefèvre syndrome (ORPHA:678)
Gene: CTSC
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: PLS; Keratosis palmoplantar-periodontopathy syndrome; Papillon-Lefèvre syndrome (ORPHA:678)
Gene: CTSC
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: PLS; Keratosis palmoplantar-periodontopathy syndrome; Papillon-Lefèvre syndrome (ORPHA:678)
Gene: CTSC
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: PLS; Keratosis palmoplantar-periodontopathy syndrome; Papillon-Lefèvre syndrome (ORPHA:678)
Gene: CTSC
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: PLS; Keratosis palmoplantar-periodontopathy syndrome; Papillon-Lefèvre syndrome (ORPHA:678)
Gene: CTSC
Phenotype: Cigarette-paper scars (HP:0001073)
Associated disease: PLS; Keratosis palmoplantar-periodontopathy syndrome; Papillon-Lefèvre syndrome (ORPHA:678)
Gene: CTSC
Phenotype: Pustule (HP:0200039)
Associated disease: PLS; Keratosis palmoplantar-periodontopathy syndrome; Papillon-Lefèvre syndrome (ORPHA:678)
Gene: CTSC
Phenotype: Osteolytic defects of the phalanges of the hand (HP:0009771)
Associated disease: HAIM-MUNK SYNDROME (OMIM:245010)
Gene: CTSC
Phenotype: Osteolytic defects of the phalanges of the hand (HP:0009771)
Associated disease: Palmoplantar keratoderma-periodontopathia-onychogryposis syndrome; Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome; Haim-Munk syndrome; Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome (ORPHA:2342)
Gene: CTSC
Phenotype: Carious teeth (HP:0000670)
Associated disease: Palmoplantar keratoderma-periodontopathia-onychogryposis syndrome; Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome; Haim-Munk syndrome; Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome (ORPHA:2342)
Gene: CTSC
Phenotype: Choroid plexus calcification (HP:0006960)
Associated disease: PAPILLON-LEFEVRE SYNDROME (OMIM:245000)
Gene: CTSC
Phenotype: Periodontitis (HP:0000704)
Associated disease: Palmoplantar keratoderma-periodontopathia-onychogryposis syndrome; Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome; Haim-Munk syndrome; Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome (ORPHA:2342)
Gene: CTSC
Phenotype: Periodontitis (HP:0000704)
Associated disease: PLS; Keratosis palmoplantar-periodontopathy syndrome; Papillon-Lefèvre syndrome (ORPHA:678)
Gene: CTSC
Phenotype: Flexion contracture of finger (HP:0012785)
Associated disease: Palmoplantar keratoderma-periodontopathia-onychogryposis syndrome; Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome; Haim-Munk syndrome; Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome (ORPHA:2342)
Gene: CTSC
Phenotype: Flexion contracture of toe (HP:0005830)
Associated disease: Palmoplantar keratoderma-periodontopathia-onychogryposis syndrome; Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome; Haim-Munk syndrome; Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome (ORPHA:2342)
Gene: CTSC
Phenotype: Gingival recession (HP:0030816)
Associated disease: PERIODONTITIS, AGGRESSIVE, 1 (OMIM:170650)
Gene: CTSC
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: PLS; Keratosis palmoplantar-periodontopathy syndrome; Papillon-Lefèvre syndrome (ORPHA:678)
Gene: CTSC
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: PERIODONTITIS, AGGRESSIVE, 1 (OMIM:170650)
Gene: CTSC
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: PAPILLON-LEFEVRE SYNDROME (OMIM:245000)
Gene: CTSC
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: Palmoplantar keratoderma-periodontopathia-onychogryposis syndrome; Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome; Haim-Munk syndrome; Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome (ORPHA:2342)
Gene: CTSC
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: PLS; Keratosis palmoplantar-periodontopathy syndrome; Papillon-Lefèvre syndrome (ORPHA:678)
Gene: CTSC
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: PLS; Keratosis palmoplantar-periodontopathy syndrome; Papillon-Lefèvre syndrome (ORPHA:678)
Gene: CTSC
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Palmoplantar keratoderma-periodontopathia-onychogryposis syndrome; Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome; Haim-Munk syndrome; Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome (ORPHA:2342)
Gene: CTSC
Phenotype: Dry skin (HP:0000958)
Associated disease: Palmoplantar keratoderma-periodontopathia-onychogryposis syndrome; Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome; Haim-Munk syndrome; Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome (ORPHA:2342)
Gene: CTSC
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: PLS; Keratosis palmoplantar-periodontopathy syndrome; Papillon-Lefèvre syndrome (ORPHA:678)
Gene: CTSC
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: PLS; Keratosis palmoplantar-periodontopathy syndrome; Papillon-Lefèvre syndrome (ORPHA:678)
Gene: CTSC
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: Palmoplantar keratoderma-periodontopathia-onychogryposis syndrome; Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome; Haim-Munk syndrome; Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome (ORPHA:2342)
Gene: CTSC
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: PLS; Keratosis palmoplantar-periodontopathy syndrome; Papillon-Lefèvre syndrome (ORPHA:678)
Gene: CTSC
Phenotype: Gingivitis (HP:0000230)
Associated disease: PLS; Keratosis palmoplantar-periodontopathy syndrome; Papillon-Lefèvre syndrome (ORPHA:678)
Gene: CTSC
Phenotype: Melanoma (HP:0002861)
Associated disease: PLS; Keratosis palmoplantar-periodontopathy syndrome; Papillon-Lefèvre syndrome (ORPHA:678)
Gene: CTSC
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: PLS; Keratosis palmoplantar-periodontopathy syndrome; Papillon-Lefèvre syndrome (ORPHA:678)
Gene: CTSC
Phenotype: Premature loss of teeth (HP:0006480)
Associated disease: PERIODONTITIS, AGGRESSIVE, 1 (OMIM:170650)
Gene: CTSC
Phenotype: Premature loss of teeth (HP:0006480)
Associated disease: PAPILLON-LEFEVRE SYNDROME (OMIM:245000)
Gene: CTSC
Phenotype: Chronic furunculosis (HP:0011132)
Associated disease: PLS; Keratosis palmoplantar-periodontopathy syndrome; Papillon-Lefèvre syndrome (ORPHA:678)
Gene: CTSC
Phenotype: Pes planus (HP:0001763)
Associated disease: Palmoplantar keratoderma-periodontopathia-onychogryposis syndrome; Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome; Haim-Munk syndrome; Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome (ORPHA:2342)
Gene: CTSC
Phenotype: Pes planus (HP:0001763)
Associated disease: HAIM-MUNK SYNDROME (OMIM:245010)
Gene: CTSC
Phenotype: Recurrent bacterial skin infections (HP:0005406)
Associated disease: HAIM-MUNK SYNDROME (OMIM:245010)
Gene: CTSC
Phenotype: Onychogryphosis (HP:0001805)
Associated disease: HAIM-MUNK SYNDROME (OMIM:245010)
Gene: CTSC
Phenotype: Onychogryphosis (HP:0001805)
Associated disease: Palmoplantar keratoderma-periodontopathia-onychogryposis syndrome; Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome; Haim-Munk syndrome; Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome (ORPHA:2342)
Gene: CTSC
Phenotype: Nail pits (HP:0001803)
Associated disease: Palmoplantar keratoderma-periodontopathia-onychogryposis syndrome; Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome; Haim-Munk syndrome; Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome (ORPHA:2342)
Gene: CTSC
Phenotype: Acroosteolysis of distal phalanges (feet) (HP:0001870)
Associated disease: Palmoplantar keratoderma-periodontopathia-onychogryposis syndrome; Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome; Haim-Munk syndrome; Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome (ORPHA:2342)
Gene: CFTR
Phenotype: Nontuberculous mycobacterial pulmonary infection (HP:0032261)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CFTR
Phenotype: Halitosis (HP:0100812)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: CFTR
Phenotype: Ileus (HP:0002595)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: CFTR
Phenotype: Steatorrhea (HP:0002570)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: CFTR
Phenotype: Steatorrhea (HP:0002570)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CFTR
Phenotype: Steatorrhea (HP:0002570)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: CFTR
Phenotype: Excessive skin wrinkling on dorsum of hands and fingers (HP:0007407)
Associated disease: Aquagenic palmoplantar keratoderma; Aquagenic wrinkling of the palms; Transient reactive papulotranslucent acrokeratoderma; Aquagenic syringeal acrokeratoderma; Aquagenic keratoderma (ORPHA:498359)
Gene: CFTR
Phenotype: Palmoplantar hyperhidrosis (HP:0007410)
Associated disease: Aquagenic palmoplantar keratoderma; Aquagenic wrinkling of the palms; Transient reactive papulotranslucent acrokeratoderma; Aquagenic syringeal acrokeratoderma; Aquagenic keratoderma (ORPHA:498359)
Gene: CFTR
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: CFTR
Phenotype: Decreased forced expiratory flow 25-75% (HP:0032359)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: CFTR
Phenotype: Abnormal spermatogenesis (HP:0008669)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: CFTR
Phenotype: Clubbing (HP:0001217)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: CFTR
Phenotype: Salty tasting skin (HP:6000725)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: CFTR
Phenotype: Reduced forced vital capacity (HP:0032341)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: CFTR
Phenotype: Reduced forced expiratory volume in one second (HP:0032342)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CFTR
Phenotype: Reduced forced expiratory volume in one second (HP:0032342)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: CFTR
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CFTR
Phenotype: Cirrhosis (HP:0001394)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: CFTR
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CFTR
Phenotype: Azoospermia (HP:0000027)
Associated disease: VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF (OMIM:277180)
Gene: CFTR
Phenotype: Azoospermia (HP:0000027)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: CFTR
Phenotype: Abnormality of exocrine pancreas physiology (HP:0012092)
Associated disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 (OMIM:211400)
Gene: CFTR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: CFTR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF (OMIM:277180)
Gene: CFTR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: CFTR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 (OMIM:211400)
Gene: CFTR
Phenotype: Biliary cirrhosis (HP:0002613)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: CFTR
Phenotype: White papule (HP:0031289)
Associated disease: Aquagenic palmoplantar keratoderma; Aquagenic wrinkling of the palms; Transient reactive papulotranslucent acrokeratoderma; Aquagenic syringeal acrokeratoderma; Aquagenic keratoderma (ORPHA:498359)
Gene: CFTR
Phenotype: Abnormal phalangeal joint morphology of the hand (HP:0006261)
Associated disease: Aquagenic palmoplantar keratoderma; Aquagenic wrinkling of the palms; Transient reactive papulotranslucent acrokeratoderma; Aquagenic syringeal acrokeratoderma; Aquagenic keratoderma (ORPHA:498359)
Gene: CFTR
Phenotype: Unilateral renal agenesis (HP:0000122)
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: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: CFTR
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CFTR
Phenotype: Phenotypic abnormality (HP:0000118)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: CFTR
Phenotype: Abnormal respiratory system physiology (HP:0002795)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: CFTR
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: CFTR
Phenotype: Productive cough (HP:0031245)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: CFTR
Phenotype: Palmar pruritus (HP:0031248)
Associated disease: Aquagenic palmoplantar keratoderma; Aquagenic wrinkling of the palms; Transient reactive papulotranslucent acrokeratoderma; Aquagenic syringeal acrokeratoderma; Aquagenic keratoderma (ORPHA:498359)
Gene: CFTR
Phenotype: Recurrent Staphylococcus aureus infections (HP:0002726)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CFTR
Phenotype: Recurrent Aspergillus infections (HP:0002724)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CFTR
Phenotype: Systemic lupus erythematosus (HP:0002725)
Associated disease: Aquagenic palmoplantar keratoderma; Aquagenic wrinkling of the palms; Transient reactive papulotranslucent acrokeratoderma; Aquagenic syringeal acrokeratoderma; Aquagenic keratoderma (ORPHA:498359)
Gene: CFTR
Phenotype: Malabsorption (HP:0002024)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CFTR
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CFTR
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: CFTR
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CFTR
Phenotype: Abdominal pain (HP:0002027)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: CFTR
Phenotype: Diarrhea (HP:0002014)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: CFTR
Phenotype: Asthma (HP:0002099)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: CFTR
Phenotype: Asthma (HP:0002099)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CFTR
Phenotype: Hyperpolarized transepithelial nasal potential difference (HP:6000100)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: CFTR
Phenotype: Emphysema (HP:0002097)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: CFTR
Phenotype: Dyspnea (HP:0002094)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: CFTR
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: CFTR
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CFTR
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: CFTR
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 (OMIM:211400)
Gene: CFTR
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: CFTR
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: CFTR
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CFTR
Phenotype: Pneumothorax (HP:0002107)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CFTR
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: CFTR
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CFTR
Phenotype: Hemoptysis (HP:0002105)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: CFTR
Phenotype: Infantile onset (HP:0003593)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: CFTR
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: CFTR
Phenotype: Pleural effusion (HP:0002202)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: CFTR
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CFTR
Phenotype: Chest pain (HP:0100749)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: CFTR
Phenotype: Clubbing of fingers (HP:0100759)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: CFTR
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: CFTR
Phenotype: Obstructive azoospermia (HP:0011962)
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: Obstructive azoospermia (HP:0011962)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: CFTR
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: CFTR
Phenotype: Acute infectious pneumonia (HP:0011949)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: CFTR
Phenotype: Atopic dermatitis (HP:0001047)
Associated disease: Aquagenic palmoplantar keratoderma; Aquagenic wrinkling of the palms; Transient reactive papulotranslucent acrokeratoderma; Aquagenic syringeal acrokeratoderma; Aquagenic keratoderma (ORPHA:498359)