TaoMedAI/RareMedData huggingface dataset:
Gene: LAMA3
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: LAMA3
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: LAMA3
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: LAMA3
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: LAMA3
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: LAMA3
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: LAMA3
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE (OMIM:226700)
Gene: LAMA3
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: LAMA3
Phenotype: Congenital onset (HP:0003577)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, SEVERE (OMIM:619784)
Gene: LAMA3
Phenotype: Congenital onset (HP:0003577)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2A, INTERMEDIATE (OMIM:619783)
Gene: LAMA3
Phenotype: Congenital onset (HP:0003577)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE (OMIM:226700)
Gene: LAMA3
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: LAMA3
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: LAMA3
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: LARYNGOONYCHOCUTANEOUS SYNDROME (OMIM:245660)
Gene: LAMA3
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: LAMA3
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome; Shabbir syndrome; LOGIC syndrome; Laryngo-onycho-cutaneous syndrome; LOC syndrome (ORPHA:2407)
Gene: LAMA3
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE (OMIM:226700)
Gene: LAMA3
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: LAMA3
Phenotype: Oral mucosal blisters (HP:0200097)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, SEVERE (OMIM:619784)
Gene: LAMA3
Phenotype: Oral mucosal blisters (HP:0200097)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2A, INTERMEDIATE (OMIM:619783)
Gene: LAMA3
Phenotype: Oral mucosal blisters (HP:0200097)
Associated disease: Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome; Shabbir syndrome; LOGIC syndrome; Laryngo-onycho-cutaneous syndrome; LOC syndrome (ORPHA:2407)
Gene: LAMA3
Phenotype: Hypochromic microcytic anemia (HP:0004840)
Associated disease: Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome; Shabbir syndrome; LOGIC syndrome; Laryngo-onycho-cutaneous syndrome; LOC syndrome (ORPHA:2407)
Gene: LAMA3
Phenotype: Symblepharon (HP:0430007)
Associated disease: Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome; Shabbir syndrome; LOGIC syndrome; Laryngo-onycho-cutaneous syndrome; LOC syndrome (ORPHA:2407)
Gene: LAMA3
Phenotype: Symblepharon (HP:0430007)
Associated disease: LARYNGOONYCHOCUTANEOUS SYNDROME (OMIM:245660)
Gene: LAMA3
Phenotype: Recurrent loss of toenails and fingernails (HP:0008390)
Associated disease: LARYNGOONYCHOCUTANEOUS SYNDROME (OMIM:245660)
Gene: LAMA3
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: LAMA3
Phenotype: Milia (HP:0001056)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE (OMIM:226700)
Gene: LAMA3
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: LAMA3
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: LAMA3
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: LAMA3
Phenotype: Fragile skin (HP:0001030)
Associated disease: Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome; Shabbir syndrome; LOGIC syndrome; Laryngo-onycho-cutaneous syndrome; LOC syndrome (ORPHA:2407)
Gene: LAMA3
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: LAMA3
Phenotype: Corneal erosion (HP:0200020)
Associated disease: Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome; Shabbir syndrome; LOGIC syndrome; Laryngo-onycho-cutaneous syndrome; LOC syndrome (ORPHA:2407)
Gene: LAMA3
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: LAMA3
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: LAMA3
Phenotype: Atrophic scars (HP:0001075)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE (OMIM:226700)
Gene: LAMA3
Phenotype: Skin ulcer (HP:0200042)
Associated disease: LARYNGOONYCHOCUTANEOUS SYNDROME (OMIM:245660)
Gene: LAMA3
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome; Shabbir syndrome; LOGIC syndrome; Laryngo-onycho-cutaneous syndrome; LOC syndrome (ORPHA:2407)
Gene: LAMA3
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: LAMA3
Phenotype: Skin erosion (HP:0200041)
Associated disease: Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome; Shabbir syndrome; LOGIC syndrome; Laryngo-onycho-cutaneous syndrome; LOC syndrome (ORPHA:2407)
Gene: LAMA3
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: LAMA3
Phenotype: Hypoplastic dermoepidermal hemidesmosomes (HP:0020117)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, SEVERE (OMIM:619784)
Gene: LAMA3
Phenotype: Neonatal onset (HP:0003623)
Associated disease: LARYNGOONYCHOCUTANEOUS SYNDROME (OMIM:245660)
Gene: LAMA3
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: LAMA3
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: LAMA3
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: LAMA3
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: LAMA3
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome; Shabbir syndrome; LOGIC syndrome; Laryngo-onycho-cutaneous syndrome; LOC syndrome (ORPHA:2407)
Gene: LAMA3
Phenotype: Microdontia (HP:0000691)
Associated disease: Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome; Shabbir syndrome; LOGIC syndrome; Laryngo-onycho-cutaneous syndrome; LOC syndrome (ORPHA:2407)
Gene: LAMA3
Phenotype: Carious teeth (HP:0000670)
Associated disease: Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome; Shabbir syndrome; LOGIC syndrome; Laryngo-onycho-cutaneous syndrome; LOC syndrome (ORPHA:2407)
Gene: LAMA3
Phenotype: Carious teeth (HP:0000670)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE (OMIM:226700)
Gene: LAMA3
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: LAMA3
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: LAMA3
Phenotype: Amelogenesis imperfecta (HP:0000705)
Associated disease: LARYNGOONYCHOCUTANEOUS SYNDROME (OMIM:245660)
Gene: LAMA3
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: LAMA3
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome; Shabbir syndrome; LOGIC syndrome; Laryngo-onycho-cutaneous syndrome; LOC syndrome (ORPHA:2407)
Gene: LAMA3
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: LAMA3
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: LAMA3
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: LAMA3
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: LAMA3
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: LAMA3
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: LAMA3
Phenotype: Corneal pterygium (HP:0034363)
Associated disease: LARYNGOONYCHOCUTANEOUS SYNDROME (OMIM:245660)
Gene: LAMA3
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: LAMA3
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: LAMA3
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome; Shabbir syndrome; LOGIC syndrome; Laryngo-onycho-cutaneous syndrome; LOC syndrome (ORPHA:2407)
Gene: LAMA3
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE (OMIM:226700)
Gene: LAMA3
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, SEVERE (OMIM:619784)
Gene: LAMA3
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2A, INTERMEDIATE (OMIM:619783)
Gene: LAMA3
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: LAMA3
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: LAMA3
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: LAMA3
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: LAMA3
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: LAMA3
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: LAMA3
Phenotype: Death in infancy (HP:0001522)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE (OMIM:226700)
Gene: LAMA3
Phenotype: Death in infancy (HP:0001522)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, SEVERE (OMIM:619784)
Gene: LAMA3
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: LAMA3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE (OMIM:226700)
Gene: LAMA3
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: LAMA3
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: LAMA3
Phenotype: Subglottic stenosis (HP:0001607)
Associated disease: Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome; Shabbir syndrome; LOGIC syndrome; Laryngo-onycho-cutaneous syndrome; LOC syndrome (ORPHA:2407)
Gene: LAMA3
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: LAMA3
Phenotype: Hoarse voice (HP:0001609)
Associated disease: Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome; Shabbir syndrome; LOGIC syndrome; Laryngo-onycho-cutaneous syndrome; LOC syndrome (ORPHA:2407)
Gene: LAMA3
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: LAMA3
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)