TaoMedAI/RareMedData huggingface dataset:
Gene: LAMB2
Phenotype: Slow pupillary light response (HP:0030211)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Hand muscle weakness (HP:0030237)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Cataract (HP:0000518)
Associated disease: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES (OMIM:614199)
Gene: LAMB2
Phenotype: Cataract (HP:0000518)
Associated disease: PIERSON SYNDROME (OMIM:609049)
Gene: LAMB2
Phenotype: Cataract (HP:0000518)
Associated disease: Microcoria-congenital nephrosis syndrome; Pierson syndrome (ORPHA:2670)
Gene: LAMB2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES (OMIM:614199)
Gene: LAMB2
Phenotype: Ptosis (HP:0000508)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Visual impairment (HP:0000505)
Associated disease: Microcoria-congenital nephrosis syndrome; Pierson syndrome (ORPHA:2670)
Gene: LAMB2
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES (OMIM:614199)
Gene: LAMB2
Phenotype: Mesangial hypercellularity (HP:0012574)
Associated disease: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES (OMIM:614199)
Gene: LAMB2
Phenotype: Rieger anomaly (HP:0000558)
Associated disease: PIERSON SYNDROME (OMIM:609049)
Gene: LAMB2
Phenotype: Retinal hemorrhage (HP:0000573)
Associated disease: PIERSON SYNDROME (OMIM:609049)
Gene: LAMB2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES (OMIM:614199)
Gene: LAMB2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: PIERSON SYNDROME (OMIM:609049)
Gene: LAMB2
Phenotype: Retinal detachment (HP:0000541)
Associated disease: PIERSON SYNDROME (OMIM:609049)
Gene: LAMB2
Phenotype: Retinal detachment (HP:0000541)
Associated disease: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES (OMIM:614199)
Gene: LAMB2
Phenotype: Myopia (HP:0000545)
Associated disease: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES (OMIM:614199)
Gene: LAMB3
Phenotype: Syndactyly (HP:0001159)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE (OMIM:226700)
Gene: LAMB3
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: LAMB3
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: LAMB3
Phenotype: Congenital localized absence of skin (HP:0007383)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE (OMIM:226700)
Gene: LAMB3
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: LAMB3
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: LAMB3
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: LAMB3
Phenotype: Palmar hyperhidrosis (HP:0006089)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE (OMIM:226650)
Gene: LAMB3
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: LAMB3
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: LAMB3
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: LAMB3
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: LAMB3
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: LAMB3
Phenotype: Plantar hyperkeratosis (HP:0007556)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE (OMIM:226650)
Gene: LAMB3
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: LAMB3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE (OMIM:226650)
Gene: LAMB3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE (OMIM:226700)
Gene: LAMB3
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: LAMB3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IA (OMIM:104530)
Gene: LAMB3
Phenotype: Generalized microdontia (HP:0006311)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IA (OMIM:104530)
Gene: LAMB3
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: LAMB3
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IA (OMIM:104530)
Gene: LAMB3
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: LAMB3
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE (OMIM:226650)
Gene: LAMB3
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE (OMIM:226700)
Gene: LAMB3
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: LAMB3
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: LAMB3
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE (OMIM:226700)
Gene: LAMB3
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: LAMB3
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: LAMB3
Phenotype: Lamina lucida cleavage (HP:0003341)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE (OMIM:226700)
Gene: LAMB3
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: LAMB3
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: LAMB3
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: LAMB3
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: LAMB3
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: LAMB3
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: LAMB3
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: LAMB3
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: LAMB3
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE (OMIM:226700)
Gene: LAMB3
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE (OMIM:226650)
Gene: LAMB3
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: LAMB3
Phenotype: Congenital onset (HP:0003577)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE (OMIM:226650)
Gene: LAMB3
Phenotype: Congenital onset (HP:0003577)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE (OMIM:226700)
Gene: LAMB3
Phenotype: Patchy alopecia (HP:0002232)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE (OMIM:226650)
Gene: LAMB3
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: LAMB3
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: LAMB3
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: LAMB3
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE (OMIM:226650)
Gene: LAMB3
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE (OMIM:226700)
Gene: LAMB3
Phenotype: Dental enamel pits (HP:0009722)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IA (OMIM:104530)
Gene: LAMB3
Phenotype: Oral mucosal blisters (HP:0200097)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE (OMIM:226650)
Gene: LAMB3
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: LAMB3
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: LAMB3
Phenotype: Milia (HP:0001056)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE (OMIM:226700)
Gene: LAMB3
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: LAMB3
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: LAMB3
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: LAMB3
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: LAMB3
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: LAMB3
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: LAMB3
Phenotype: Atrophic scars (HP:0001075)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE (OMIM:226700)
Gene: LAMB3
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: LAMB3
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: LAMB3
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: LAMB3
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: LAMB3
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: LAMB3
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: LAMB3
Phenotype: Taurodontia (HP:0000679)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IA (OMIM:104530)
Gene: LAMB3
Phenotype: Carious teeth (HP:0000670)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE (OMIM:226650)
Gene: LAMB3
Phenotype: Carious teeth (HP:0000670)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE (OMIM:226700)
Gene: LAMB3
Phenotype: Hypodontia (HP:0000668)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE (OMIM:226650)
Gene: LAMB3
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: LAMB3
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: LAMB3
Phenotype: Amelogenesis imperfecta (HP:0000705)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IA (OMIM:104530)
Gene: LAMB3
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: LAMB3
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)