TaoMedAI/RareMedData huggingface dataset:
Gene: LAMC2
Phenotype: Milia (HP:0001056)
Associated disease: Junctional epidermolysis bullosa generalisata mitis; Intermediate generalized JEB; Junctional epidermolysis bullosa, Disentis type; Intermediate generalized junctional epidermolysis bullosa; Generalized junctional epidermolysis bullosa, non-Herlitz type; Generalized atrophic benign epidermolysis bullosa (ORPHA:79402)
Gene: LAMC2
Phenotype: Milia (HP:0001056)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE (OMIM:226700)
Gene: LAMC2
Phenotype: Aplasia cutis congenita (HP:0001057)
Associated disease: Junctional epidermolysis bullosa generalisata mitis; Intermediate generalized JEB; Junctional epidermolysis bullosa, Disentis type; Intermediate generalized junctional epidermolysis bullosa; Generalized junctional epidermolysis bullosa, non-Herlitz type; Generalized atrophic benign epidermolysis bullosa (ORPHA:79402)
Gene: LAMC2
Phenotype: Aplasia cutis congenita (HP:0001057)
Associated disease: Epidermolysis bullosa letalis; Severe generalized JEB; Severe generalized junctional epidermolysis bullosa; Junctional epidermolysis bullosa, Herlitz type; Junctional epidermolysis bullosa generalisata gravis; Junctional epidermolysis bullosa, Herlitz-Pearson type; JEB-H (ORPHA:79404)
Gene: LAMC2
Phenotype: Fragile skin (HP:0001030)
Associated disease: Epidermolysis bullosa letalis; Severe generalized JEB; Severe generalized junctional epidermolysis bullosa; Junctional epidermolysis bullosa, Herlitz type; Junctional epidermolysis bullosa generalisata gravis; Junctional epidermolysis bullosa, Herlitz-Pearson type; JEB-H (ORPHA:79404)
Gene: LAMC2
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Junctional epidermolysis bullosa generalisata mitis; Intermediate generalized JEB; Junctional epidermolysis bullosa, Disentis type; Intermediate generalized junctional epidermolysis bullosa; Generalized junctional epidermolysis bullosa, non-Herlitz type; Generalized atrophic benign epidermolysis bullosa (ORPHA:79402)
Gene: LAMC2
Phenotype: Skin plaque (HP:0200035)
Associated disease: Epidermolysis bullosa letalis; Severe generalized JEB; Severe generalized junctional epidermolysis bullosa; Junctional epidermolysis bullosa, Herlitz type; Junctional epidermolysis bullosa generalisata gravis; Junctional epidermolysis bullosa, Herlitz-Pearson type; JEB-H (ORPHA:79404)
Gene: LAMC2
Phenotype: Death in early adulthood (HP:0100613)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, SEVERE (OMIM:619786)
Gene: LAMC2
Phenotype: Atrophic scars (HP:0001075)
Associated disease: Junctional epidermolysis bullosa generalisata mitis; Intermediate generalized JEB; Junctional epidermolysis bullosa, Disentis type; Intermediate generalized junctional epidermolysis bullosa; Generalized junctional epidermolysis bullosa, non-Herlitz type; Generalized atrophic benign epidermolysis bullosa (ORPHA:79402)
Gene: LAMC2
Phenotype: Atrophic scars (HP:0001075)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE (OMIM:226700)
Gene: LAMC2
Phenotype: Skin erosion (HP:0200041)
Associated disease: Epidermolysis bullosa letalis; Severe generalized JEB; Severe generalized junctional epidermolysis bullosa; Junctional epidermolysis bullosa, Herlitz type; Junctional epidermolysis bullosa generalisata gravis; Junctional epidermolysis bullosa, Herlitz-Pearson type; JEB-H (ORPHA:79404)
Gene: LAMC2
Phenotype: Hypoplastic dermoepidermal hemidesmosomes (HP:0020117)
Associated disease: Epidermolysis bullosa letalis; Severe generalized JEB; Severe generalized junctional epidermolysis bullosa; Junctional epidermolysis bullosa, Herlitz type; Junctional epidermolysis bullosa generalisata gravis; Junctional epidermolysis bullosa, Herlitz-Pearson type; JEB-H (ORPHA:79404)
Gene: LAMC2
Phenotype: Hypoplastic dermoepidermal hemidesmosomes (HP:0020117)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3A, INTERMEDIATE (OMIM:619785)
Gene: LAMC2
Phenotype: Dehydration (HP:0001944)
Associated disease: Epidermolysis bullosa letalis; Severe generalized JEB; Severe generalized junctional epidermolysis bullosa; Junctional epidermolysis bullosa, Herlitz type; Junctional epidermolysis bullosa generalisata gravis; Junctional epidermolysis bullosa, Herlitz-Pearson type; JEB-H (ORPHA:79404)
Gene: LAMC2
Phenotype: Unexplained fevers (HP:0001955)
Associated disease: Epidermolysis bullosa letalis; Severe generalized JEB; Severe generalized junctional epidermolysis bullosa; Junctional epidermolysis bullosa, Herlitz type; Junctional epidermolysis bullosa generalisata gravis; Junctional epidermolysis bullosa, Herlitz-Pearson type; JEB-H (ORPHA:79404)
Gene: LAMC2
Phenotype: Anemia (HP:0001903)
Associated disease: Epidermolysis bullosa letalis; Severe generalized JEB; Severe generalized junctional epidermolysis bullosa; Junctional epidermolysis bullosa, Herlitz type; Junctional epidermolysis bullosa generalisata gravis; Junctional epidermolysis bullosa, Herlitz-Pearson type; JEB-H (ORPHA:79404)
Gene: LAMC2
Phenotype: Anemia (HP:0001903)
Associated disease: Junctional epidermolysis bullosa generalisata mitis; Intermediate generalized JEB; Junctional epidermolysis bullosa, Disentis type; Intermediate generalized junctional epidermolysis bullosa; Generalized junctional epidermolysis bullosa, non-Herlitz type; Generalized atrophic benign epidermolysis bullosa (ORPHA:79402)
Gene: LAMC2
Phenotype: Carious teeth (HP:0000670)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE (OMIM:226700)
Gene: LAMC2
Phenotype: Gastrointestinal inflammation (HP:0004386)
Associated disease: Epidermolysis bullosa letalis; Severe generalized JEB; Severe generalized junctional epidermolysis bullosa; Junctional epidermolysis bullosa, Herlitz type; Junctional epidermolysis bullosa generalisata gravis; Junctional epidermolysis bullosa, Herlitz-Pearson type; JEB-H (ORPHA:79404)
Gene: LAMC2
Phenotype: Malnutrition (HP:0004395)
Associated disease: Epidermolysis bullosa letalis; Severe generalized JEB; Severe generalized junctional epidermolysis bullosa; Junctional epidermolysis bullosa, Herlitz type; Junctional epidermolysis bullosa generalisata gravis; Junctional epidermolysis bullosa, Herlitz-Pearson type; JEB-H (ORPHA:79404)
Gene: LAMC2
Phenotype: Abnormal blood ion concentration (HP:0003111)
Associated disease: Epidermolysis bullosa letalis; Severe generalized JEB; Severe generalized junctional epidermolysis bullosa; Junctional epidermolysis bullosa, Herlitz type; Junctional epidermolysis bullosa generalisata gravis; Junctional epidermolysis bullosa, Herlitz-Pearson type; JEB-H (ORPHA:79404)
Gene: LAMC2
Phenotype: Scarring alopecia of scalp (HP:0004552)
Associated disease: Junctional epidermolysis bullosa generalisata mitis; Intermediate generalized JEB; Junctional epidermolysis bullosa, Disentis type; Intermediate generalized junctional epidermolysis bullosa; Generalized junctional epidermolysis bullosa, non-Herlitz type; Generalized atrophic benign epidermolysis bullosa (ORPHA:79402)
Gene: LAMC2
Phenotype: Pyoderma (HP:0000999)
Associated disease: Epidermolysis bullosa letalis; Severe generalized JEB; Severe generalized junctional epidermolysis bullosa; Junctional epidermolysis bullosa, Herlitz type; Junctional epidermolysis bullosa generalisata gravis; Junctional epidermolysis bullosa, Herlitz-Pearson type; JEB-H (ORPHA:79404)
Gene: LAMC2
Phenotype: Stridor (HP:0010307)
Associated disease: Epidermolysis bullosa letalis; Severe generalized JEB; Severe generalized junctional epidermolysis bullosa; Junctional epidermolysis bullosa, Herlitz type; Junctional epidermolysis bullosa generalisata gravis; Junctional epidermolysis bullosa, Herlitz-Pearson type; JEB-H (ORPHA:79404)
Gene: LAMC2
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Junctional epidermolysis bullosa generalisata mitis; Intermediate generalized JEB; Junctional epidermolysis bullosa, Disentis type; Intermediate generalized junctional epidermolysis bullosa; Generalized junctional epidermolysis bullosa, non-Herlitz type; Generalized atrophic benign epidermolysis bullosa (ORPHA:79402)
Gene: LAMC2
Phenotype: Edema (HP:0000969)
Associated disease: Epidermolysis bullosa letalis; Severe generalized JEB; Severe generalized junctional epidermolysis bullosa; Junctional epidermolysis bullosa, Herlitz type; Junctional epidermolysis bullosa generalisata gravis; Junctional epidermolysis bullosa, Herlitz-Pearson type; JEB-H (ORPHA:79404)
Gene: LAMC2
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Epidermolysis bullosa letalis; Severe generalized JEB; Severe generalized junctional epidermolysis bullosa; Junctional epidermolysis bullosa, Herlitz type; Junctional epidermolysis bullosa generalisata gravis; Junctional epidermolysis bullosa, Herlitz-Pearson type; JEB-H (ORPHA:79404)
Gene: LAMC2
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Epidermolysis bullosa letalis; Severe generalized JEB; Severe generalized junctional epidermolysis bullosa; Junctional epidermolysis bullosa, Herlitz type; Junctional epidermolysis bullosa generalisata gravis; Junctional epidermolysis bullosa, Herlitz-Pearson type; JEB-H (ORPHA:79404)
Gene: LAMC2
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Junctional epidermolysis bullosa generalisata mitis; Intermediate generalized JEB; Junctional epidermolysis bullosa, Disentis type; Intermediate generalized junctional epidermolysis bullosa; Generalized junctional epidermolysis bullosa, non-Herlitz type; Generalized atrophic benign epidermolysis bullosa (ORPHA:79402)
Gene: LAMC2
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE (OMIM:226700)
Gene: LAMC2
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3A, INTERMEDIATE (OMIM:619785)
Gene: LAMC2
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, SEVERE (OMIM:619786)
Gene: LAMC2
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Epidermolysis bullosa letalis; Severe generalized JEB; Severe generalized junctional epidermolysis bullosa; Junctional epidermolysis bullosa, Herlitz type; Junctional epidermolysis bullosa generalisata gravis; Junctional epidermolysis bullosa, Herlitz-Pearson type; JEB-H (ORPHA:79404)
Gene: LAMC2
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, SEVERE (OMIM:619786)
Gene: LAMC2
Phenotype: Alopecia (HP:0001596)
Associated disease: Epidermolysis bullosa letalis; Severe generalized JEB; Severe generalized junctional epidermolysis bullosa; Junctional epidermolysis bullosa, Herlitz type; Junctional epidermolysis bullosa generalisata gravis; Junctional epidermolysis bullosa, Herlitz-Pearson type; JEB-H (ORPHA:79404)
Gene: LAMC2
Phenotype: Urethral stricture (HP:0012227)
Associated disease: Epidermolysis bullosa letalis; Severe generalized JEB; Severe generalized junctional epidermolysis bullosa; Junctional epidermolysis bullosa, Herlitz type; Junctional epidermolysis bullosa generalisata gravis; Junctional epidermolysis bullosa, Herlitz-Pearson type; JEB-H (ORPHA:79404)
Gene: LAMC2
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: Epidermolysis bullosa letalis; Severe generalized JEB; Severe generalized junctional epidermolysis bullosa; Junctional epidermolysis bullosa, Herlitz type; Junctional epidermolysis bullosa generalisata gravis; Junctional epidermolysis bullosa, Herlitz-Pearson type; JEB-H (ORPHA:79404)
Gene: LAMC2
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Epidermolysis bullosa letalis; Severe generalized JEB; Severe generalized junctional epidermolysis bullosa; Junctional epidermolysis bullosa, Herlitz type; Junctional epidermolysis bullosa generalisata gravis; Junctional epidermolysis bullosa, Herlitz-Pearson type; JEB-H (ORPHA:79404)
Gene: LAMC2
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: Epidermolysis bullosa letalis; Severe generalized JEB; Severe generalized junctional epidermolysis bullosa; Junctional epidermolysis bullosa, Herlitz type; Junctional epidermolysis bullosa generalisata gravis; Junctional epidermolysis bullosa, Herlitz-Pearson type; JEB-H (ORPHA:79404)
Gene: LAMC2
Phenotype: Death in infancy (HP:0001522)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE (OMIM:226700)
Gene: LAMC2
Phenotype: Death in infancy (HP:0001522)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, SEVERE (OMIM:619786)
Gene: LAMC2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Epidermolysis bullosa letalis; Severe generalized JEB; Severe generalized junctional epidermolysis bullosa; Junctional epidermolysis bullosa, Herlitz type; Junctional epidermolysis bullosa generalisata gravis; Junctional epidermolysis bullosa, Herlitz-Pearson type; JEB-H (ORPHA:79404)
Gene: LAMC2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE (OMIM:226700)
Gene: LAMC2
Phenotype: Growth delay (HP:0001510)
Associated disease: Epidermolysis bullosa letalis; Severe generalized JEB; Severe generalized junctional epidermolysis bullosa; Junctional epidermolysis bullosa, Herlitz type; Junctional epidermolysis bullosa generalisata gravis; Junctional epidermolysis bullosa, Herlitz-Pearson type; JEB-H (ORPHA:79404)
Gene: LAMC2
Phenotype: Growth delay (HP:0001510)
Associated disease: Junctional epidermolysis bullosa generalisata mitis; Intermediate generalized JEB; Junctional epidermolysis bullosa, Disentis type; Intermediate generalized junctional epidermolysis bullosa; Generalized junctional epidermolysis bullosa, non-Herlitz type; Generalized atrophic benign epidermolysis bullosa (ORPHA:79402)
Gene: LAMC2
Phenotype: Hoarse voice (HP:0001609)
Associated disease: Epidermolysis bullosa letalis; Severe generalized JEB; Severe generalized junctional epidermolysis bullosa; Junctional epidermolysis bullosa, Herlitz type; Junctional epidermolysis bullosa generalisata gravis; Junctional epidermolysis bullosa, Herlitz-Pearson type; JEB-H (ORPHA:79404)
Gene: LAMC2
Phenotype: Laryngeal stenosis (HP:0001602)
Associated disease: Epidermolysis bullosa letalis; Severe generalized JEB; Severe generalized junctional epidermolysis bullosa; Junctional epidermolysis bullosa, Herlitz type; Junctional epidermolysis bullosa generalisata gravis; Junctional epidermolysis bullosa, Herlitz-Pearson type; JEB-H (ORPHA:79404)
Gene: LAMC2
Phenotype: Hoarse cry (HP:0001615)
Associated disease: Epidermolysis bullosa letalis; Severe generalized JEB; Severe generalized junctional epidermolysis bullosa; Junctional epidermolysis bullosa, Herlitz type; Junctional epidermolysis bullosa generalisata gravis; Junctional epidermolysis bullosa, Herlitz-Pearson type; JEB-H (ORPHA:79404)
Gene: LAMC2
Phenotype: Erosion of oral mucosa (HP:0031446)
Associated disease: Epidermolysis bullosa letalis; Severe generalized JEB; Severe generalized junctional epidermolysis bullosa; Junctional epidermolysis bullosa, Herlitz type; Junctional epidermolysis bullosa generalisata gravis; Junctional epidermolysis bullosa, Herlitz-Pearson type; JEB-H (ORPHA:79404)
Gene: LAMC2
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Epidermolysis bullosa letalis; Severe generalized JEB; Severe generalized junctional epidermolysis bullosa; Junctional epidermolysis bullosa, Herlitz type; Junctional epidermolysis bullosa generalisata gravis; Junctional epidermolysis bullosa, Herlitz-Pearson type; JEB-H (ORPHA:79404)
Gene: LAMC2
Phenotype: Bradycardia (HP:0001662)
Associated disease: Epidermolysis bullosa letalis; Severe generalized JEB; Severe generalized junctional epidermolysis bullosa; Junctional epidermolysis bullosa, Herlitz type; Junctional epidermolysis bullosa generalisata gravis; Junctional epidermolysis bullosa, Herlitz-Pearson type; JEB-H (ORPHA:79404)
Gene: LAMC2
Phenotype: Mitten deformity (HP:0004057)
Associated disease: Epidermolysis bullosa letalis; Severe generalized JEB; Severe generalized junctional epidermolysis bullosa; Junctional epidermolysis bullosa, Herlitz type; Junctional epidermolysis bullosa generalisata gravis; Junctional epidermolysis bullosa, Herlitz-Pearson type; JEB-H (ORPHA:79404)
Gene: LAMC2
Phenotype: Abnormal cornea morphology (HP:0000481)
Associated disease: Epidermolysis bullosa letalis; Severe generalized JEB; Severe generalized junctional epidermolysis bullosa; Junctional epidermolysis bullosa, Herlitz type; Junctional epidermolysis bullosa generalisata gravis; Junctional epidermolysis bullosa, Herlitz-Pearson type; JEB-H (ORPHA:79404)
Gene: LAMC2
Phenotype: Anonychia (HP:0001798)
Associated disease: Epidermolysis bullosa letalis; Severe generalized JEB; Severe generalized junctional epidermolysis bullosa; Junctional epidermolysis bullosa, Herlitz type; Junctional epidermolysis bullosa generalisata gravis; Junctional epidermolysis bullosa, Herlitz-Pearson type; JEB-H (ORPHA:79404)
Gene: LAMC2
Phenotype: Anonychia (HP:0001798)
Associated disease: Junctional epidermolysis bullosa generalisata mitis; Intermediate generalized JEB; Junctional epidermolysis bullosa, Disentis type; Intermediate generalized junctional epidermolysis bullosa; Generalized junctional epidermolysis bullosa, non-Herlitz type; Generalized atrophic benign epidermolysis bullosa (ORPHA:79402)
Gene: LAMC2
Phenotype: Paronychia (HP:0001818)
Associated disease: Epidermolysis bullosa letalis; Severe generalized JEB; Severe generalized junctional epidermolysis bullosa; Junctional epidermolysis bullosa, Herlitz type; Junctional epidermolysis bullosa generalisata gravis; Junctional epidermolysis bullosa, Herlitz-Pearson type; JEB-H (ORPHA:79404)
Gene: LAMP2
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: DANON DISEASE (OMIM:300257)
Gene: LAMP2
Phenotype: Lower limb amyotrophy (HP:0007210)
Associated disease: DANON DISEASE (OMIM:300257)
Gene: LAMP2
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: DANON DISEASE (OMIM:300257)
Gene: LAMP2
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: DANON DISEASE (OMIM:300257)
Gene: LAMP2
Phenotype: Exercise-induced muscle cramps (HP:0003710)
Associated disease: DANON DISEASE (OMIM:300257)
Gene: LAMP2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Glycogen storage disease, type IIb; GSD, type 2B; Danon disease; GSD due to LAMP-2 deficiency; Lysosomal glycogen storage disease with normal acid maltase activity; Glycogenosis due to LAMP-2 deficiency; Glycogen storage disease due to LAMP-2 deficiency; Glycogen storage disease, type 2B; GSD, type IIb (ORPHA:34587)
Gene: LAMP2
Phenotype: Syncope (HP:0001279)
Associated disease: DANON DISEASE (OMIM:300257)
Gene: LAMP2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Glycogen storage disease, type IIb; GSD, type 2B; Danon disease; GSD due to LAMP-2 deficiency; Lysosomal glycogen storage disease with normal acid maltase activity; Glycogenosis due to LAMP-2 deficiency; Glycogen storage disease due to LAMP-2 deficiency; Glycogen storage disease, type 2B; GSD, type IIb (ORPHA:34587)
Gene: LAMP2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DANON DISEASE (OMIM:300257)
Gene: LAMP2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DANON DISEASE (OMIM:300257)
Gene: LAMP2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: DANON DISEASE (OMIM:300257)
Gene: LAMP2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: LAMP2
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: DANON DISEASE (OMIM:300257)
Gene: LAMP2
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: DANON DISEASE (OMIM:300257)
Gene: LAMP2
Phenotype: Second degree atrioventricular block (HP:0011706)
Associated disease: DANON DISEASE (OMIM:300257)
Gene: LAMP2
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: DANON DISEASE (OMIM:300257)
Gene: LAMP2
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease: DANON DISEASE (OMIM:300257)
Gene: LAMP2
Phenotype: Muscle flaccidity (HP:0010547)
Associated disease: Glycogen storage disease, type IIb; GSD, type 2B; Danon disease; GSD due to LAMP-2 deficiency; Lysosomal glycogen storage disease with normal acid maltase activity; Glycogenosis due to LAMP-2 deficiency; Glycogen storage disease due to LAMP-2 deficiency; Glycogen storage disease, type 2B; GSD, type IIb (ORPHA:34587)
Gene: LAMP2
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: DANON DISEASE (OMIM:300257)
Gene: LAMP2
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: DANON DISEASE (OMIM:300257)
Gene: LAMP2
Phenotype: Hypokinesia (HP:0002375)
Associated disease: DANON DISEASE (OMIM:300257)
Gene: LAMP2
Phenotype: Increased QRS voltage (HP:0025075)
Associated disease: DANON DISEASE (OMIM:300257)
Gene: LAMP2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: DANON DISEASE (OMIM:300257)
Gene: LAMP2
Phenotype: Severely reduced left ventricular ejection fraction (HP:0012666)
Associated disease: DANON DISEASE (OMIM:300257)
Gene: LAMP2
Phenotype: Childhood onset (HP:0011463)
Associated disease: DANON DISEASE (OMIM:300257)
Gene: LAMP2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: DANON DISEASE (OMIM:300257)
Gene: LAMP2
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: LAMP2
Phenotype: Cardiorespiratory arrest (HP:0006543)
Associated disease: Glycogen storage disease, type IIb; GSD, type 2B; Danon disease; GSD due to LAMP-2 deficiency; Lysosomal glycogen storage disease with normal acid maltase activity; Glycogenosis due to LAMP-2 deficiency; Glycogen storage disease due to LAMP-2 deficiency; Glycogen storage disease, type 2B; GSD, type IIb (ORPHA:34587)
Gene: LAMP2
Phenotype: Atrial arrhythmia (HP:0001692)
Associated disease: DANON DISEASE (OMIM:300257)
Gene: LAMP2
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: LAMP2
Phenotype: Myocardial fibrosis (HP:0001685)
Associated disease: DANON DISEASE (OMIM:300257)
Gene: LAMP2
Phenotype: Atrioventricular block (HP:0001678)
Associated disease: DANON DISEASE (OMIM:300257)
Gene: LAMP2
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: LAMP2
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Glycogen storage disease, type IIb; GSD, type 2B; Danon disease; GSD due to LAMP-2 deficiency; Lysosomal glycogen storage disease with normal acid maltase activity; Glycogenosis due to LAMP-2 deficiency; Glycogen storage disease due to LAMP-2 deficiency; Glycogen storage disease, type 2B; GSD, type IIb (ORPHA:34587)
Gene: LAMP2
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: DANON DISEASE (OMIM:300257)
Gene: LAMP2
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: LAMP2
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: DANON DISEASE (OMIM:300257)
Gene: LAMP2
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Glycogen storage disease, type IIb; GSD, type 2B; Danon disease; GSD due to LAMP-2 deficiency; Lysosomal glycogen storage disease with normal acid maltase activity; Glycogenosis due to LAMP-2 deficiency; Glycogen storage disease due to LAMP-2 deficiency; Glycogen storage disease, type 2B; GSD, type IIb (ORPHA:34587)
Gene: LAMP2
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: DANON DISEASE (OMIM:300257)
Gene: LAMP2
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: DANON DISEASE (OMIM:300257)