TaoMedAI/RareMedData huggingface dataset:
Gene: PLEC
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: PLEC-related intermediate EBS without extracutaneous involvement; PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement (ORPHA:79401)
Gene: PLEC
Phenotype: Fragile skin (HP:0001030)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: PLEC
Phenotype: Fragile skin (HP:0001030)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: PLEC
Phenotype: Fragile skin (HP:0001030)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA (OMIM:612138)
Gene: PLEC
Phenotype: Fragile skin (HP:0001030)
Associated disease: PLEC-related intermediate EBS without extracutaneous involvement; PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement (ORPHA:79401)
Gene: PLEC
Phenotype: Frequent falls (HP:0002359)
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: Rapidly progressive (HP:0003678)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17 (OMIM:613723)
Gene: PLEC
Phenotype: Skin vesicle (HP:0200037)
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: Papule (HP:0200034)
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: Atrophic scars (HP:0001075)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: PLEC
Phenotype: Atrophic scars (HP:0001075)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: PLEC
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: PLEC
Phenotype: Skin erosion (HP:0200041)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: PLEC
Phenotype: Skin erosion (HP:0200041)
Associated disease: PLEC-related intermediate EBS without extracutaneous involvement; PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement (ORPHA:79401)
Gene: PLEC
Phenotype: Hypoplastic dermoepidermal hemidesmosomes (HP:0020117)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE (OMIM:131950)
Gene: PLEC
Phenotype: Hypoplastic dermoepidermal hemidesmosomes (HP:0020117)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: PLEC
Phenotype: Erythema (HP:0010783)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: PLEC
Phenotype: Mutism (HP:0002300)
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: Progressive proximal muscle weakness (HP:0009073)
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: Ophthalmoplegia (HP:0000602)
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: Anemia (HP:0001903)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY (OMIM:226670)
Gene: PLEC
Phenotype: Distal lower limb muscle weakness (HP:0009053)
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: Abnormal dental enamel morphology (HP:0000682)
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: Increased connective tissue (HP:0009025)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY (OMIM:226670)
Gene: PLEC
Phenotype: Ectropion (HP:0000656)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: PLEC
Phenotype: Carious teeth (HP:0000670)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY (OMIM:226670)
Gene: PLEC
Phenotype: Short stature (HP:0004322)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY (OMIM:226670)
Gene: PLEC
Phenotype: Dermal atrophy (HP:0004334)
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: Congenital pyloric atresia (HP:0004399)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA (OMIM:612138)
Gene: PLEC
Phenotype: Congenital pyloric atresia (HP:0004399)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: PLEC
Phenotype: Congenital pyloric atresia (HP:0004399)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: PLEC
Phenotype: Stratum basale cleavage (HP:0034193)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY (OMIM:616487)
Gene: PLEC
Phenotype: Prolonged bleeding time (HP:0003010)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: PLEC
Phenotype: Abnormality of bone mineral density (HP:0004348)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: PLEC
Phenotype: Childhood onset (HP:0011463)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17 (OMIM:613723)
Gene: PLEC
Phenotype: Childhood onset (HP:0011463)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY (OMIM:616487)
Gene: PLEC
Phenotype: Fetal onset (HP:0011461)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA (OMIM:612138)
Gene: PLEC
Phenotype: Abnormality of the urethra (HP:0000795)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: PLEC
Phenotype: Elevated maternal circulating alpha-fetoprotein concentration (HP:0011432)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: PLEC
Phenotype: Myopathy (HP:0003198)
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: Aplasia cutis congenita over the scalp vertex (HP:0004471)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: PLEC
Phenotype: Tactile hypersensitivity (HP:5200061)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: PLEC
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
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: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17 (OMIM:613723)
Gene: PLEC
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: PLEC
Phenotype: Scarring alopecia of scalp (HP:0004552)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY (OMIM:226670)
Gene: PLEC
Phenotype: Scarring alopecia of scalp (HP:0004552)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: PLEC
Phenotype: Skeletal muscle atrophy (HP:0003202)
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: Skeletal muscle atrophy (HP:0003202)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17 (OMIM:613723)
Gene: PLEC
Phenotype: Urethrovesical occlusion (HP:0034378)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: PLEC
Phenotype: Abdominal distention (HP:0003270)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: PLEC
Phenotype: Spinal dysraphism (HP:0010301)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: PLEC
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE (OMIM:131950)
Gene: PLEC
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY (OMIM:226670)
Gene: PLEC
Phenotype: Pruritus (HP:0000989)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY (OMIM:616487)
Gene: PLEC
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: PLEC-related intermediate EBS without extracutaneous involvement; PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement (ORPHA:79401)
Gene: PLEC
Phenotype: Abnormality of the skin (HP:0000951)
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/Hypoplasia of the skin (HP:0008065)
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: Abnormal blistering of the skin (HP:0008066)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: PLEC
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: PLEC
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA (OMIM:612138)
Gene: PLEC
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: PLEC-related intermediate EBS without extracutaneous involvement; PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement (ORPHA:79401)
Gene: PLEC
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY (OMIM:616487)
Gene: PLEC
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY (OMIM:226670)
Gene: PLEC
Phenotype: Motheaten muscle fibers (HP:0100298)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY (OMIM:226670)
Gene: PLEC
Phenotype: Alopecia (HP:0001596)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY (OMIM:616487)
Gene: PLEC
Phenotype: Alopecia (HP:0001596)
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: Oculomotor nerve palsy (HP:0012246)
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: Macrocephaly (HP:0000256)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA (OMIM:612138)
Gene: PLEC
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: PLEC
Phenotype: Urethral stricture (HP:0012227)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY (OMIM:226670)
Gene: PLEC
Phenotype: Exertional dyspnea (HP:0002875)
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: Polyhydramnios (HP:0001561)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: PLEC
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: PLEC
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA (OMIM:612138)
Gene: PLEC
Phenotype: Death in infancy (HP:0001522)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: PLEC
Phenotype: Fatigue (HP:0012378)
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: Anti-neuromuscular Junction acetylcholine receptor antibody positivity (HP:0030208)
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: Lumbar hyperlordosis (HP:0002938)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17 (OMIM:613723)
Gene: PLEC
Phenotype: Hypernasal speech (HP:0001611)
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: Abnormal heart morphology (HP:0001627)
Associated disease: PLEC-related intermediate EBS without extracutaneous involvement; PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement (ORPHA:79401)
Gene: PLEC
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
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 eye (HP:0000478)
Associated disease: PLEC-related intermediate EBS without extracutaneous involvement; PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement (ORPHA:79401)
Gene: PLEC
Phenotype: Keratitis (HP:0000491)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY (OMIM:226670)
Gene: PLEC
Phenotype: Deeply set eye (HP:0000490)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA (OMIM:612138)
Gene: PLEC
Phenotype: Anteverted nares (HP:0000463)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA (OMIM:612138)
Gene: PLEC
Phenotype: Anonychia (HP:0001798)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: PLEC
Phenotype: Achilles tendon contracture (HP:0001771)
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: Toe syndactyly (HP:0001770)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: PLEC
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA (OMIM:612138)
Gene: PLEC
Phenotype: Ptosis (HP:0000508)
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: Hypoplastic fingernail (HP:0001804)
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: Hyperconvex fingernails (HP:0001812)
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: Ophthalmoparesis (HP:0000597)
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: PLG
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: PLASMINOGEN DEFICIENCY, TYPE I (OMIM:217090)
Gene: PLG
Phenotype: Duodenal ulcer (HP:0002588)
Associated disease: PLASMINOGEN DEFICIENCY, TYPE I (OMIM:217090)
Gene: PLG
Phenotype: Duodenal ulcer (HP:0002588)
Associated disease: Plasminogen deficiency type 1; Hypoplasminogenemia (ORPHA:722)
Gene: PLG
Phenotype: Laryngeal edema (HP:0012027)
Associated disease: ANGIOEDEMA, HEREDITARY, 4 (OMIM:619360)
Gene: PLG
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PLASMINOGEN DEFICIENCY, TYPE I (OMIM:217090)
Gene: PLG
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ANGIOEDEMA, HEREDITARY, 4 (OMIM:619360)
Gene: PLG
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: Plasminogen deficiency type 1; Hypoplasminogenemia (ORPHA:722)
Gene: PLG
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: PLASMINOGEN DEFICIENCY, TYPE I (OMIM:217090)
Gene: PLG
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: PLASMINOGEN DEFICIENCY, TYPE I (OMIM:217090)
Gene: PLG
Phenotype: Abnormality of the ovary (HP:0000137)
Associated disease: Plasminogen deficiency type 1; Hypoplasminogenemia (ORPHA:722)
Gene: PLG
Phenotype: Nephritis (HP:0000123)
Associated disease: PLASMINOGEN DEFICIENCY, TYPE I (OMIM:217090)
Gene: PLG
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: PLASMINOGEN DEFICIENCY, TYPE I (OMIM:217090)
Gene: PLG
Phenotype: Swollen lip (HP:0031244)
Associated disease: ANGIOEDEMA, HEREDITARY, 4 (OMIM:619360)
Gene: PLG
Phenotype: Abnormality of the respiratory system (HP:0002086)
Associated disease: Plasminogen deficiency type 1; Hypoplasminogenemia (ORPHA:722)
Gene: PLG
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PLASMINOGEN DEFICIENCY, TYPE I (OMIM:217090)
Gene: PLG
Phenotype: Infantile onset (HP:0003593)
Associated disease: PLASMINOGEN DEFICIENCY, TYPE I (OMIM:217090)
Gene: PLG
Phenotype: Angioedema (HP:0100665)
Associated disease: ANGIOEDEMA, HEREDITARY, 4 (OMIM:619360)
Gene: PLG
Phenotype: Abnormal thrombosis (HP:0001977)
Associated disease: PLASMINOGEN DEFICIENCY, TYPE I (OMIM:217090)
Gene: PLG
Phenotype: Blindness (HP:0000618)
Associated disease: PLASMINOGEN DEFICIENCY, TYPE I (OMIM:217090)
Gene: PLG
Phenotype: Third trimester onset (HP:0034197)
Associated disease: PLASMINOGEN DEFICIENCY, TYPE I (OMIM:217090)
Gene: PLG
Phenotype: Periodontitis (HP:0000704)
Associated disease: Plasminogen deficiency type 1; Hypoplasminogenemia (ORPHA:722)
Gene: PLG
Phenotype: Periodontitis (HP:0000704)
Associated disease: PLASMINOGEN DEFICIENCY, TYPE I (OMIM:217090)
Gene: PLG
Phenotype: Young adult onset (HP:0011462)
Associated disease: ANGIOEDEMA, HEREDITARY, 4 (OMIM:619360)
Gene: PLG
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: Plasminogen deficiency type 1; Hypoplasminogenemia (ORPHA:722)
Gene: PLG
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: PLASMINOGEN DEFICIENCY, TYPE I (OMIM:217090)
Gene: PLG
Phenotype: Decreased level of plasminogen (HP:0040228)
Associated disease: PLASMINOGEN DEFICIENCY, TYPE I (OMIM:217090)
Gene: PLG
Phenotype: Decreased level of plasminogen (HP:0040228)
Associated disease: Plasminogen deficiency type 1; Hypoplasminogenemia (ORPHA:722)
Gene: PLG
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: PLASMINOGEN DEFICIENCY, TYPE I (OMIM:217090)
Gene: PLG
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: Plasminogen deficiency type 1; Hypoplasminogenemia (ORPHA:722)
Gene: PLG
Phenotype: Facial edema (HP:0000282)
Associated disease: ANGIOEDEMA, HEREDITARY, 4 (OMIM:619360)
Gene: PLG
Phenotype: Macrocephaly (HP:0000256)
Associated disease: PLASMINOGEN DEFICIENCY, TYPE I (OMIM:217090)
Gene: PLG
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Plasminogen deficiency type 1; Hypoplasminogenemia (ORPHA:722)
Gene: PLG
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PLASMINOGEN DEFICIENCY, TYPE I (OMIM:217090)
Gene: PLG
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: Plasminogen deficiency type 1; Hypoplasminogenemia (ORPHA:722)
Gene: PLG
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: PLASMINOGEN DEFICIENCY, TYPE I (OMIM:217090)
Gene: PLG
Phenotype: Gingivitis (HP:0000230)
Associated disease: Plasminogen deficiency type 1; Hypoplasminogenemia (ORPHA:722)
Gene: PLG
Phenotype: Gingivitis (HP:0000230)
Associated disease: PLASMINOGEN DEFICIENCY, TYPE I (OMIM:217090)
Gene: PLG
Phenotype: Abnormal fallopian tube morphology (HP:0011027)
Associated disease: Plasminogen deficiency type 1; Hypoplasminogenemia (ORPHA:722)
Gene: PLG
Phenotype: Abnormality of the middle ear (HP:0000370)
Associated disease: Plasminogen deficiency type 1; Hypoplasminogenemia (ORPHA:722)
Gene: PLG
Phenotype: Cervicitis (HP:0030160)
Associated disease: Plasminogen deficiency type 1; Hypoplasminogenemia (ORPHA:722)
Gene: PLG
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Plasminogen deficiency type 1; Hypoplasminogenemia (ORPHA:722)
Gene: PLG
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: PLASMINOGEN DEFICIENCY, TYPE I (OMIM:217090)
Gene: PLG
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Plasminogen deficiency type 1; Hypoplasminogenemia (ORPHA:722)
Gene: SERPINF2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ALPHA-2-PLASMIN INHIBITOR DEFICIENCY (OMIM:262850)
Gene: SERPINF2
Phenotype: Bone pain (HP:0002653)
Associated disease: Congenital alpha2-antiplasmin deficiency (ORPHA:79)
Gene: SERPINF2
Phenotype: Hemothorax (HP:0012151)
Associated disease: Congenital alpha2-antiplasmin deficiency (ORPHA:79)
Gene: SERPINF2
Phenotype: Hemothorax (HP:0012151)
Associated disease: ALPHA-2-PLASMIN INHIBITOR DEFICIENCY (OMIM:262850)
Gene: SERPINF2
Phenotype: Intracranial hemorrhage (HP:0002170)
Associated disease: Congenital alpha2-antiplasmin deficiency (ORPHA:79)
Gene: SERPINF2
Phenotype: Abnormal umbilical stump bleeding (HP:0011884)
Associated disease: Congenital alpha2-antiplasmin deficiency (ORPHA:79)
Gene: SERPINF2
Phenotype: Persistent bleeding after trauma (HP:0001934)
Associated disease: Congenital alpha2-antiplasmin deficiency (ORPHA:79)
Gene: SERPINF2
Phenotype: Persistent bleeding after trauma (HP:0001934)
Associated disease: ALPHA-2-PLASMIN INHIBITOR DEFICIENCY (OMIM:262850)
Gene: SERPINF2
Phenotype: Hematuria (HP:0000790)
Associated disease: Congenital alpha2-antiplasmin deficiency (ORPHA:79)
Gene: SERPINF2
Phenotype: Reduced euglobulin clot lysis time (HP:0040247)
Associated disease: Congenital alpha2-antiplasmin deficiency (ORPHA:79)
Gene: SERPINF2
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Congenital alpha2-antiplasmin deficiency (ORPHA:79)