TaoMedAI/RareMedData huggingface dataset:
Gene: PLCG2
Phenotype: Cataract (HP:0000518)
Associated disease: AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION (OMIM:614878)
Gene: PLCG2
Phenotype: Decreased class-switched memory B cell proportion (HP:0030388)
Associated disease: AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION (OMIM:614878)
Gene: PLD1
Phenotype: Urethral diverticulum (HP:0008722)
Associated disease: CARDIAC VALVULAR DEFECT, DEVELOPMENTAL (OMIM:212093)
Gene: PLD1
Phenotype: Arteria lusoria (HP:0031014)
Associated disease: CARDIAC VALVULAR DEFECT, DEVELOPMENTAL (OMIM:212093)
Gene: PLD1
Phenotype: Hydroureter (HP:0000072)
Associated disease: CARDIAC VALVULAR DEFECT, DEVELOPMENTAL (OMIM:212093)
Gene: PLD1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: CARDIAC VALVULAR DEFECT, DEVELOPMENTAL (OMIM:212093)
Gene: PLD1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CARDIAC VALVULAR DEFECT, DEVELOPMENTAL (OMIM:212093)
Gene: PLD1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: PLD1
Phenotype: Left atrial enlargement (HP:0031295)
Associated disease: CARDIAC VALVULAR DEFECT, DEVELOPMENTAL (OMIM:212093)
Gene: PLD1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: CARDIAC VALVULAR DEFECT, DEVELOPMENTAL (OMIM:212093)
Gene: PLD1
Phenotype: Tricuspid stenosis (HP:0010446)
Associated disease: CARDIAC VALVULAR DEFECT, DEVELOPMENTAL (OMIM:212093)
Gene: PLD1
Phenotype: Hypoplasia of right ventricle (HP:0004762)
Associated disease: CARDIAC VALVULAR DEFECT, DEVELOPMENTAL (OMIM:212093)
Gene: PLD1
Phenotype: Congenital onset (HP:0003577)
Associated disease: CARDIAC VALVULAR DEFECT, DEVELOPMENTAL (OMIM:212093)
Gene: PLD1
Phenotype: Pulmonary artery atresia (HP:0004935)
Associated disease: CARDIAC VALVULAR DEFECT, DEVELOPMENTAL (OMIM:212093)
Gene: PLD1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: PLD1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: PLD1
Phenotype: Left aortic arch with cervical origin of the right subclavian artery (HP:0011591)
Associated disease: CARDIAC VALVULAR DEFECT, DEVELOPMENTAL (OMIM:212093)
Gene: PLD1
Phenotype: Double inlet left ventricle (HP:0011555)
Associated disease: CARDIAC VALVULAR DEFECT, DEVELOPMENTAL (OMIM:212093)
Gene: PLD1
Phenotype: Tricuspid atresia (HP:0011662)
Associated disease: CARDIAC VALVULAR DEFECT, DEVELOPMENTAL (OMIM:212093)
Gene: PLD1
Phenotype: Muscular ventricular septal defect (HP:0011623)
Associated disease: CARDIAC VALVULAR DEFECT, DEVELOPMENTAL (OMIM:212093)
Gene: PLD1
Phenotype: Subpulmonary stenosis (HP:0034348)
Associated disease: CARDIAC VALVULAR DEFECT, DEVELOPMENTAL (OMIM:212093)
Gene: PLD1
Phenotype: Valvular pulmonary stenosis (HP:0034350)
Associated disease: CARDIAC VALVULAR DEFECT, DEVELOPMENTAL (OMIM:212093)
Gene: PLD1
Phenotype: Edema (HP:0000969)
Associated disease: CARDIAC VALVULAR DEFECT, DEVELOPMENTAL (OMIM:212093)
Gene: PLD1
Phenotype: Cyanosis (HP:0000961)
Associated disease: CARDIAC VALVULAR DEFECT, DEVELOPMENTAL (OMIM:212093)
Gene: PLD1
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: CARDIAC VALVULAR DEFECT, DEVELOPMENTAL (OMIM:212093)
Gene: PLD1
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: PLD1
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: CARDIAC VALVULAR DEFECT, DEVELOPMENTAL (OMIM:212093)
Gene: PLD1
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: CARDIAC VALVULAR DEFECT, DEVELOPMENTAL (OMIM:212093)
Gene: PLD1
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: CARDIAC VALVULAR DEFECT, DEVELOPMENTAL (OMIM:212093)
Gene: PLD1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CARDIAC VALVULAR DEFECT, DEVELOPMENTAL (OMIM:212093)
Gene: PLD1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: PLD1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: CARDIAC VALVULAR DEFECT, DEVELOPMENTAL (OMIM:212093)
Gene: PLD1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: CARDIAC VALVULAR DEFECT, DEVELOPMENTAL (OMIM:212093)
Gene: PLD1
Phenotype: Tricuspid valve prolapse (HP:0001704)
Associated disease: CARDIAC VALVULAR DEFECT, DEVELOPMENTAL (OMIM:212093)
Gene: PLD1
Phenotype: Mitral stenosis (HP:0001718)
Associated disease: CARDIAC VALVULAR DEFECT, DEVELOPMENTAL (OMIM:212093)
Gene: PLD1
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: CARDIAC VALVULAR DEFECT, DEVELOPMENTAL (OMIM:212093)
Gene: PLD1
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: PLEC
Phenotype: Microtia (HP:0008551)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: PLEC
Phenotype: Microtia (HP:0008551)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA (OMIM:612138)
Gene: PLEC
Phenotype: Pelvic girdle muscle weakness (HP:0003749)
Associated disease: Limb-girdle muscular dystrophy type 2Q; LGMD2Q; Plectin-related LGMD R17; Autosomal recessive limb-girdle muscular dystrophy type 2Q; LGMD type 2Q; Plectin-related limb-girdle muscular dystrophy R17 (ORPHA:254361)
Gene: PLEC
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17 (OMIM:613723)
Gene: PLEC
Phenotype: Motor delay (HP:0001270)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17 (OMIM:613723)
Gene: PLEC
Phenotype: Motor delay (HP:0001270)
Associated disease: Limb-girdle muscular dystrophy type 2Q; LGMD2Q; Plectin-related LGMD R17; Autosomal recessive limb-girdle muscular dystrophy type 2Q; LGMD type 2Q; Plectin-related limb-girdle muscular dystrophy R17 (ORPHA:254361)
Gene: PLEC
Phenotype: Areflexia (HP:0001284)
Associated disease: Limb-girdle muscular dystrophy type 2Q; LGMD2Q; Plectin-related LGMD R17; Autosomal recessive limb-girdle muscular dystrophy type 2Q; LGMD type 2Q; Plectin-related limb-girdle muscular dystrophy R17 (ORPHA:254361)
Gene: PLEC
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Limb-girdle muscular dystrophy type 2Q; LGMD2Q; Plectin-related LGMD R17; Autosomal recessive limb-girdle muscular dystrophy type 2Q; LGMD type 2Q; Plectin-related limb-girdle muscular dystrophy R17 (ORPHA:254361)
Gene: PLEC
Phenotype: Palmoplantar blistering (HP:0007446)
Associated disease: PLEC-related intermediate EBS without extracutaneous involvement; PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement (ORPHA:79401)
Gene: PLEC
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: PLEC
Phenotype: Acral blistering (HP:0031045)
Associated disease: PLEC-related intermediate EBS without extracutaneous involvement; PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement (ORPHA:79401)
Gene: PLEC
Phenotype: Congenital localized absence of skin (HP:0007383)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: PLEC
Phenotype: Aplasia cutis congenita of scalp (HP:0007385)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: PLEC
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: Limb-girdle muscular dystrophy type 2Q; LGMD2Q; Plectin-related LGMD R17; Autosomal recessive limb-girdle muscular dystrophy type 2Q; LGMD type 2Q; Plectin-related limb-girdle muscular dystrophy R17 (ORPHA:254361)
Gene: PLEC
Phenotype: Neonatal death (HP:0003811)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA (OMIM:612138)
Gene: PLEC
Phenotype: Glomerular sclerosis (HP:0000096)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: PLEC
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: PLEC
Phenotype: Renal duplication (HP:0000075)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: PLEC
Phenotype: Ureterocele (HP:0000070)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: PLEC
Phenotype: Flexion contracture (HP:0001371)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: PLEC
Phenotype: Flexion contracture (HP:0001371)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA (OMIM:612138)
Gene: PLEC
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17 (OMIM:613723)
Gene: PLEC
Phenotype: Intra-epidermal blistering (HP:0033802)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA (OMIM:612138)
Gene: PLEC
Phenotype: Intra-epidermal blistering (HP:0033802)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY (OMIM:226670)
Gene: PLEC
Phenotype: Calvarial skull defect (HP:0001362)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: PLEC
Phenotype: Plantar hyperkeratosis (HP:0007556)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY (OMIM:616487)
Gene: PLEC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY (OMIM:226670)
Gene: PLEC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA (OMIM:612138)
Gene: PLEC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY (OMIM:616487)
Gene: PLEC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: PLEC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17 (OMIM:613723)
Gene: PLEC
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE (OMIM:131950)
Gene: PLEC
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY (OMIM:226670)
Gene: PLEC
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: PLEC-related intermediate EBS without extracutaneous involvement; PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement (ORPHA:79401)
Gene: PLEC
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: Limb-girdle muscular dystrophy type 2Q; LGMD2Q; Plectin-related LGMD R17; Autosomal recessive limb-girdle muscular dystrophy type 2Q; LGMD type 2Q; Plectin-related limb-girdle muscular dystrophy R17 (ORPHA:254361)
Gene: PLEC
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: Limb-girdle muscular dystrophy type 2Q; LGMD2Q; Plectin-related LGMD R17; Autosomal recessive limb-girdle muscular dystrophy type 2Q; LGMD type 2Q; Plectin-related limb-girdle muscular dystrophy R17 (ORPHA:254361)
Gene: PLEC
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: Limb-girdle muscular dystrophy type 2Q; LGMD2Q; Plectin-related LGMD R17; Autosomal recessive limb-girdle muscular dystrophy type 2Q; LGMD type 2Q; Plectin-related limb-girdle muscular dystrophy R17 (ORPHA:254361)
Gene: PLEC
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: PLEC
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY (OMIM:226670)
Gene: PLEC
Phenotype: Skin fragility with non-scarring blistering (HP:0007585)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE (OMIM:131950)
Gene: PLEC
Phenotype: Skin fragility with non-scarring blistering (HP:0007585)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: PLEC
Phenotype: Aplasia cutis congenita on trunk or limbs (HP:0007589)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: PLEC
Phenotype: Aplasia cutis congenita on trunk or limbs (HP:0007589)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: PLEC
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: PLEC
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: PLEC
Phenotype: Esophageal atresia (HP:0002032)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: PLEC
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: Limb-girdle muscular dystrophy type 2Q; LGMD2Q; Plectin-related LGMD R17; Autosomal recessive limb-girdle muscular dystrophy type 2Q; LGMD type 2Q; Plectin-related limb-girdle muscular dystrophy R17 (ORPHA:254361)
Gene: PLEC
Phenotype: Dysphagia (HP:0002015)
Associated disease: Limb-girdle muscular dystrophy type 2Q; LGMD2Q; Plectin-related LGMD R17; Autosomal recessive limb-girdle muscular dystrophy type 2Q; LGMD type 2Q; Plectin-related limb-girdle muscular dystrophy R17 (ORPHA:254361)
Gene: PLEC
Phenotype: Abnormality of the abdominal organs (HP:0002012)
Associated disease: PLEC-related intermediate EBS without extracutaneous involvement; PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement (ORPHA:79401)
Gene: PLEC
Phenotype: Vomiting (HP:0002013)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: PLEC
Phenotype: Lamina lucida cleavage (HP:0003341)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: PLEC
Phenotype: Lamina lucida cleavage (HP:0003341)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: PLEC
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Limb-girdle muscular dystrophy type 2Q; LGMD2Q; Plectin-related LGMD R17; Autosomal recessive limb-girdle muscular dystrophy type 2Q; LGMD type 2Q; Plectin-related limb-girdle muscular dystrophy R17 (ORPHA:254361)
Gene: PLEC
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17 (OMIM:613723)
Gene: PLEC
Phenotype: Decreased cervical spine flexion due to contractures of posterior cervical muscles (HP:0004631)
Associated disease: Limb-girdle muscular dystrophy type 2Q; LGMD2Q; Plectin-related LGMD R17; Autosomal recessive limb-girdle muscular dystrophy type 2Q; LGMD type 2Q; Plectin-related limb-girdle muscular dystrophy R17 (ORPHA:254361)
Gene: PLEC
Phenotype: Abnormality of the respiratory system (HP:0002086)
Associated disease: Limb-girdle muscular dystrophy type 2Q; LGMD2Q; Plectin-related LGMD R17; Autosomal recessive limb-girdle muscular dystrophy type 2Q; LGMD type 2Q; Plectin-related limb-girdle muscular dystrophy R17 (ORPHA:254361)
Gene: PLEC
Phenotype: Gowers sign (HP:0003391)
Associated disease: Limb-girdle muscular dystrophy type 2Q; LGMD2Q; Plectin-related LGMD R17; Autosomal recessive limb-girdle muscular dystrophy type 2Q; LGMD type 2Q; Plectin-related limb-girdle muscular dystrophy R17 (ORPHA:254361)
Gene: PLEC
Phenotype: Gowers sign (HP:0003391)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17 (OMIM:613723)
Gene: PLEC
Phenotype: Intractable diarrhea (HP:0002041)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: PLEC
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: Limb-girdle muscular dystrophy type 2Q; LGMD2Q; Plectin-related LGMD R17; Autosomal recessive limb-girdle muscular dystrophy type 2Q; LGMD type 2Q; Plectin-related limb-girdle muscular dystrophy R17 (ORPHA:254361)
Gene: PLEC
Phenotype: Proximal upper limb muscle hypertrophy (HP:0040266)
Associated disease: Limb-girdle muscular dystrophy type 2Q; LGMD2Q; Plectin-related LGMD R17; Autosomal recessive limb-girdle muscular dystrophy type 2Q; LGMD type 2Q; Plectin-related limb-girdle muscular dystrophy R17 (ORPHA:254361)
Gene: PLEC
Phenotype: Axial muscle atrophy (HP:0040287)
Associated disease: Limb-girdle muscular dystrophy type 2Q; LGMD2Q; Plectin-related LGMD R17; Autosomal recessive limb-girdle muscular dystrophy type 2Q; LGMD type 2Q; Plectin-related limb-girdle muscular dystrophy R17 (ORPHA:254361)
Gene: PLEC
Phenotype: Aplasia of the bladder (HP:0010477)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: PLEC
Phenotype: Fatigable weakness (HP:0003473)
Associated disease: EBS with muscular dystrophy; Limb-girdle muscular dystrophy with epidermolysis bullosa simplex; EBS-MD; Epidermolysis bullosa simplex with muscular dystrophy (ORPHA:257)
Gene: PLEC
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Limb-girdle muscular dystrophy type 2Q; LGMD2Q; Plectin-related LGMD R17; Autosomal recessive limb-girdle muscular dystrophy type 2Q; LGMD type 2Q; Plectin-related limb-girdle muscular dystrophy R17 (ORPHA:254361)
Gene: PLEC
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Limb-girdle muscular dystrophy type 2Q; LGMD2Q; Plectin-related LGMD R17; Autosomal recessive limb-girdle muscular dystrophy type 2Q; LGMD type 2Q; Plectin-related limb-girdle muscular dystrophy R17 (ORPHA:254361)
Gene: PLEC
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: PLEC
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY (OMIM:226670)
Gene: PLEC
Phenotype: Muscle flaccidity (HP:0010547)
Associated disease: EBS with muscular dystrophy; Limb-girdle muscular dystrophy with epidermolysis bullosa simplex; EBS-MD; Epidermolysis bullosa simplex with muscular dystrophy (ORPHA:257)
Gene: PLEC
Phenotype: Echolalia (HP:0010529)
Associated disease: EBS with muscular dystrophy; Limb-girdle muscular dystrophy with epidermolysis bullosa simplex; EBS-MD; Epidermolysis bullosa simplex with muscular dystrophy (ORPHA:257)
Gene: PLEC
Phenotype: Punctate keratitis (HP:0011859)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY (OMIM:226670)
Gene: PLEC
Phenotype: Congenital onset (HP:0003577)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY (OMIM:226670)
Gene: PLEC
Phenotype: Congenital onset (HP:0003577)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: PLEC
Phenotype: Muscle fiber splitting (HP:0003555)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY (OMIM:226670)
Gene: PLEC
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: Limb-girdle muscular dystrophy type 2Q; LGMD2Q; Plectin-related LGMD R17; Autosomal recessive limb-girdle muscular dystrophy type 2Q; LGMD type 2Q; Plectin-related limb-girdle muscular dystrophy R17 (ORPHA:254361)
Gene: PLEC
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17 (OMIM:613723)
Gene: PLEC
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: PLEC
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY (OMIM:226670)
Gene: PLEC
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17 (OMIM:613723)
Gene: PLEC
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY (OMIM:226670)
Gene: PLEC
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: Limb-girdle muscular dystrophy type 2Q; LGMD2Q; Plectin-related LGMD R17; Autosomal recessive limb-girdle muscular dystrophy type 2Q; LGMD type 2Q; Plectin-related limb-girdle muscular dystrophy R17 (ORPHA:254361)
Gene: PLEC
Phenotype: Onychogryphosis of toenails (HP:0008401)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE (OMIM:131950)
Gene: PLEC
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: PLEC
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: PLEC
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY (OMIM:616487)
Gene: PLEC
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY (OMIM:226670)
Gene: PLEC
Phenotype: Atelectasis (HP:0100750)
Associated disease: Limb-girdle muscular dystrophy type 2Q; LGMD2Q; Plectin-related LGMD R17; Autosomal recessive limb-girdle muscular dystrophy type 2Q; LGMD type 2Q; Plectin-related limb-girdle muscular dystrophy R17 (ORPHA:254361)
Gene: PLEC
Phenotype: Oral mucosal blisters (HP:0200097)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: PLEC
Phenotype: Oral mucosal blisters (HP:0200097)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: PLEC
Phenotype: Facial palsy (HP:0010628)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: PLEC
Phenotype: Bilateral facial palsy (HP:0430025)
Associated disease: Limb-girdle muscular dystrophy type 2Q; LGMD2Q; Plectin-related LGMD R17; Autosomal recessive limb-girdle muscular dystrophy type 2Q; LGMD type 2Q; Plectin-related limb-girdle muscular dystrophy R17 (ORPHA:254361)
Gene: PLEC
Phenotype: Bronchiolitis (HP:0011950)
Associated disease: Limb-girdle muscular dystrophy type 2Q; LGMD2Q; Plectin-related LGMD R17; Autosomal recessive limb-girdle muscular dystrophy type 2Q; LGMD type 2Q; Plectin-related limb-girdle muscular dystrophy R17 (ORPHA:254361)
Gene: PLEC
Phenotype: Hypopigmented macule (HP:0020073)
Associated disease: PLEC-related intermediate EBS without extracutaneous involvement; PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement (ORPHA:79401)
Gene: PLEC
Phenotype: Milia (HP:0001056)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: PLEC
Phenotype: Milia (HP:0001056)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY (OMIM:226670)
Gene: PLEC
Phenotype: Milia (HP:0001056)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: PLEC
Phenotype: Aplasia cutis congenita (HP:0001057)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: PLEC
Phenotype: Aplasia cutis congenita (HP:0001057)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: PLEC
Phenotype: Aplasia cutis congenita (HP:0001057)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA (OMIM:612138)
Gene: PLEC
Phenotype: Aphasia (HP:0002381)
Associated disease: EBS with muscular dystrophy; Limb-girdle muscular dystrophy with epidermolysis bullosa simplex; EBS-MD; Epidermolysis bullosa simplex with muscular dystrophy (ORPHA:257)
Gene: PLEC
Phenotype: Axillary pterygium (HP:0001060)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)