TaoMedAI/RareMedData huggingface dataset:
Gene: LAMA2
Phenotype: Dysphagia (HP:0002015)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: Gowers sign (HP:0003391)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 (OMIM:618138)
Gene: LAMA2
Phenotype: Myopathic facies (HP:0002058)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: Cerebral edema (HP:0002181)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: Congenital onset (HP:0003577)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A (OMIM:607855)
Gene: LAMA2
Phenotype: Adult onset (HP:0003581)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 (OMIM:618138)
Gene: LAMA2
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 (OMIM:618138)
Gene: LAMA2
Phenotype: Intercostal muscle weakness (HP:0004878)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A (OMIM:607855)
Gene: LAMA2
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 (OMIM:618138)
Gene: LAMA2
Phenotype: Atelectasis (HP:0100750)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: Facial palsy (HP:0010628)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: Hypokinesia (HP:0002375)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: Slowly progressive (HP:0003677)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 (OMIM:618138)
Gene: LAMA2
Phenotype: Protruding tongue (HP:0010808)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: Myositis (HP:0100614)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 (OMIM:618138)
Gene: LAMA2
Phenotype: Abnormality of the temporomandibular joint (HP:0010754)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: Hypointensity of cerebral white matter on MRI (HP:0007103)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A (OMIM:607855)
Gene: LAMA2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 (OMIM:618138)
Gene: LAMA2
Phenotype: Pontocerebellar atrophy (HP:0006879)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A (OMIM:607855)
Gene: LAMA2
Phenotype: Difficulty running (HP:0009046)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 (OMIM:618138)
Gene: LAMA2
Phenotype: Reduced left ventricular ejection fraction (HP:0012664)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: Increased connective tissue (HP:0009025)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: Decreased body weight (HP:0004325)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 (OMIM:618138)
Gene: LAMA2
Phenotype: Abnormal brainstem MRI signal intensity (HP:0012747)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 (OMIM:618138)
Gene: LAMA2
Phenotype: Childhood onset (HP:0011463)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 (OMIM:618138)
Gene: LAMA2
Phenotype: Axonal degeneration (HP:0040078)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 (OMIM:618138)
Gene: LAMA2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 (OMIM:618138)
Gene: LAMA2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A (OMIM:607855)
Gene: LAMA2
Phenotype: Muscle fiber atrophy (HP:0100295)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: Increased endomysial connective tissue (HP:0100297)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A (OMIM:607855)
Gene: LAMA2
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: Kyphosis (HP:0002808)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 (OMIM:618138)
Gene: LAMA2
Phenotype: Absent muscle fiber merosin (HP:0030091)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: Aspiration (HP:0002835)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: Impaired mastication (HP:0005216)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: Weak cry (HP:0001612)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 (OMIM:618138)
Gene: LAMA2
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: Highly elevated creatine kinase (HP:0030234)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA3
Phenotype: Syndactyly (HP:0001159)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE (OMIM:226700)
Gene: LAMA3
Phenotype: Abnormal periungual morphology (HP:0100803)
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: 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: LAMA3
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: LAMA3
Phenotype: Abnormal vocal cord morphology (HP:0008777)
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: Congenital localized absence of skin (HP:0007383)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE (OMIM:226700)
Gene: LAMA3
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: LAMA3
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: LAMA3
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: LAMA3
Phenotype: Death in childhood (HP:0003819)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, SEVERE (OMIM:619784)
Gene: LAMA3
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: LAMA3
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: LAMA3
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: LAMA3
Phenotype: Subepidermal blistering (HP:0033804)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2A, INTERMEDIATE (OMIM:619783)
Gene: LAMA3
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: LAMA3
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: LAMA3
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: LAMA3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LARYNGOONYCHOCUTANEOUS SYNDROME (OMIM:245660)
Gene: LAMA3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE (OMIM:226700)
Gene: LAMA3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, SEVERE (OMIM:619784)
Gene: LAMA3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2A, INTERMEDIATE (OMIM:619783)
Gene: LAMA3
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: LAMA3
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: LAMA3
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: LARYNGOONYCHOCUTANEOUS SYNDROME (OMIM:245660)
Gene: LAMA3
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: LAMA3
Phenotype: Enamel hypoplasia (HP:0006297)
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: Enamel hypoplasia (HP:0006297)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE (OMIM:226700)
Gene: LAMA3
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: LAMA3
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: LAMA3
Phenotype: Exuberant granulation tissue (HP:6000956)
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: Pyloric stenosis (HP:0002021)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE (OMIM:226700)
Gene: LAMA3
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: LAMA3
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: LAMA3
Phenotype: Lamina lucida cleavage (HP:0003341)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE (OMIM:226700)
Gene: LAMA3
Phenotype: Lamina lucida cleavage (HP:0003341)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, SEVERE (OMIM:619784)
Gene: LAMA3
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: LAMA3
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)