TaoMedAI/RareMedData huggingface dataset:
Gene: LAMB3
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: LAMB3
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: LAMB3
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: LAMB3
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IA (OMIM:104530)
Gene: LAMB3
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: LAMB3
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: LAMB3
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: LAMB3
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: LAMB3
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE (OMIM:226650)
Gene: LAMB3
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE (OMIM:226700)
Gene: LAMB3
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: LAMB3
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: LAMB3
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: LAMB3
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: LAMB3
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: LAMB3
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: LAMB3
Phenotype: Death in infancy (HP:0001522)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE (OMIM:226700)
Gene: LAMB3
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: LAMB3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE (OMIM:226700)
Gene: LAMB3
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: LAMB3
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: LAMB3
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: LAMB3
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: LAMB3
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: LAMB3
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: LAMB3
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: LAMB3
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: LAMB3
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: LAMB3
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: LAMB3
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: LAMB3
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: LAMB3
Phenotype: Fragile nails (HP:0001808)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE (OMIM:226650)
Gene: LAMB3
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: LAMC2
Phenotype: Syndactyly (HP:0001159)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE (OMIM:226700)
Gene: LAMC2
Phenotype: Sepsis (HP:0100806)
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: Seizure (HP:0001250)
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: Congenital localized absence of skin (HP:0007383)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE (OMIM:226700)
Gene: LAMC2
Phenotype: Renal tubular epithelial necrosis (HP:0008682)
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: Ureteral obstruction (HP:0006000)
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 fingertip morphology (HP:0001211)
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: Duplicated collecting system (HP:0000081)
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: Hydroureter (HP:0000072)
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: Ureterocele (HP:0000070)
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 the bladder (HP:0000014)
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: Urinary retention (HP:0000016)
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 urinary tract infections (HP:0000010)
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: Autosomal recessive inheritance (HP:0000007)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE (OMIM:226700)
Gene: LAMC2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3A, INTERMEDIATE (OMIM:619785)
Gene: LAMC2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, SEVERE (OMIM:619786)
Gene: LAMC2
Phenotype: Multicystic kidney dysplasia (HP:0000003)
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: Enamel hypoplasia (HP:0006297)
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: Enamel hypoplasia (HP:0006297)
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: Enamel hypoplasia (HP:0006297)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE (OMIM:226700)
Gene: LAMC2
Phenotype: Hydronephrosis (HP:0000126)
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: Renal cyst (HP:0000107)
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: Pyloric stenosis (HP:0002021)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE (OMIM:226700)
Gene: LAMC2
Phenotype: Constipation (HP:0002019)
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: Vomiting (HP:0002013)
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: Lamina lucida cleavage (HP:0003341)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE (OMIM:226700)
Gene: LAMC2
Phenotype: Lamina lucida cleavage (HP:0003341)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3A, INTERMEDIATE (OMIM:619785)
Gene: LAMC2
Phenotype: Lamina lucida cleavage (HP:0003341)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, SEVERE (OMIM:619786)
Gene: LAMC2
Phenotype: Abnormality of the upper respiratory tract (HP:0002087)
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 distress (HP:0002098)
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: Dyspnea (HP:0002094)
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: Pneumonia (HP:0002090)
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: Esophageal stricture (HP:0002043)
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: Dysuria (HP:0100518)
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: Aplasia/Hypoplasia of the bladder (HP:0010476)
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: Pneumothorax (HP:0002107)
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: Nail dysplasia (HP:0002164)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE (OMIM:226700)
Gene: LAMC2
Phenotype: Abnormal oral mucosa morphology (HP:0011830)
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: Congenital onset (HP:0003577)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3A, INTERMEDIATE (OMIM:619785)
Gene: LAMC2
Phenotype: Congenital onset (HP:0003577)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, SEVERE (OMIM:619786)
Gene: LAMC2
Phenotype: Congenital onset (HP:0003577)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE (OMIM:226700)
Gene: LAMC2
Phenotype: Sparse body hair (HP:0002231)
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: Nail dystrophy (HP:0008404)
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: Nail dystrophy (HP:0008404)
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: Nail dystrophy (HP:0008404)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE (OMIM:226700)
Gene: LAMC2
Phenotype: Oral mucosal blisters (HP:0200097)
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: Oral mucosal blisters (HP:0200097)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3A, INTERMEDIATE (OMIM:619785)
Gene: LAMC2
Phenotype: Oral mucosal blisters (HP:0200097)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, SEVERE (OMIM:619786)