TaoMedAI/RareMedData huggingface dataset:
Gene: LMNA
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Reduced left ventricular ejection fraction (HP:0012664)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT (OMIM:181350)
Gene: LMNA
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT (OMIM:181350)
Gene: LMNA
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 (OMIM:605588)
Gene: LMNA
Phenotype: Dental crowding (HP:0000678)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY (OMIM:248370)
Gene: LMNA
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMNA
Phenotype: Dental crowding (HP:0000678)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Natal tooth (HP:0000695)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: LMNA
Phenotype: Hypoplasia of teeth (HP:0000685)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY (OMIM:248370)
Gene: LMNA
Phenotype: Enlarged peripheral nerve (HP:0012645)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Loss of truncal subcutaneous adipose tissue (HP:0009002)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMNA
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMNA
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMNA
Phenotype: Hypodontia (HP:0000668)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMNA
Phenotype: Decreased body weight (HP:0004325)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Short stature (HP:0004322)
Associated disease: Mandibuloacral dysplasia with type A lipodystrophy; MADA (ORPHA:90153)
Gene: LMNA
Phenotype: Short stature (HP:0004322)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Short stature (HP:0004322)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY (OMIM:248370)
Gene: LMNA
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: Mandibuloacral dysplasia with type A lipodystrophy; MADA (ORPHA:90153)
Gene: LMNA
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: LMNA
Phenotype: Decreased skull ossification (HP:0004331)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: LMNA
Phenotype: Thoracic kyphoscoliosis (HP:0005659)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: LMNA
Phenotype: Cachexia (HP:0004326)
Associated disease: L-CMD; LMNA-related congenital muscular dystrophy; Congenital muscular dystrophy due to LMNA mutation (ORPHA:157973)
Gene: LMNA
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: Autosomal semi-dominant severe lipodystrophic laminopathy (ORPHA:280365)
Gene: LMNA
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation (ORPHA:300751)
Gene: LMNA
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT (OMIM:181350)
Gene: LMNA
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: CARDIOMYOPATHY, DILATED, 1A (OMIM:115200)
Gene: LMNA
Phenotype: Decreased adiponectin level (HP:0030685)
Associated disease: Autosomal semi-dominant severe lipodystrophic laminopathy (ORPHA:280365)
Gene: LMNA
Phenotype: Hyperlipidemia (HP:0003077)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY (OMIM:248370)
Gene: LMNA
Phenotype: Hyperlipidemia (HP:0003077)
Associated disease: Mandibuloacral dysplasia with type A lipodystrophy; MADA (ORPHA:90153)
Gene: LMNA
Phenotype: Glycosuria (HP:0003076)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY (OMIM:248370)
Gene: LMNA
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Hamstring contractures (HP:0003089)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (OMIM:613205)
Gene: LMNA
Phenotype: Microcolon (HP:0004388)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: LMNA
Phenotype: Mitral valve calcification (HP:0004382)
Associated disease: LCPS; LMNA-related cardiocutaneous progeria syndrome (ORPHA:363618)
Gene: LMNA
Phenotype: Mitral valve calcification (HP:0004382)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Aortic valve calcification (HP:0004380)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Aortic valve calcification (HP:0004380)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMNA
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMNA
Phenotype: Abnormal circulating leptin concentration (HP:0004361)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMNA
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMNA
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: Mandibuloacral dysplasia with type A lipodystrophy; MADA (ORPHA:90153)
Gene: LMNA
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMNA
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (OMIM:613205)
Gene: LMNA
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMNA
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: LMNA
Phenotype: Neoplasm of the breast (HP:0100013)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Autosomal recessive Emery-Dreifuss muscular dystrophy; EDMD3 (ORPHA:98855)
Gene: LMNA
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: LMNA
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMNA
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMNA
Phenotype: Abnormal thorax morphology (HP:0000765)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Abnormal thorax morphology (HP:0000765)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Sinoatrial block (HP:0012723)
Associated disease: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation (ORPHA:300751)
Gene: LMNA
Phenotype: Neoplasm of the thyroid gland (HP:0100031)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMNA
Phenotype: Heart block (HP:0012722)
Associated disease: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation (ORPHA:300751)
Gene: LMNA
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMNA
Phenotype: Loss of eyelashes (HP:0011457)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Childhood onset (HP:0011463)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (OMIM:613205)
Gene: LMNA
Phenotype: Childhood onset (HP:0011463)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Childhood onset (HP:0011463)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AUTOSOMAL RECESSIVE (OMIM:616516)
Gene: LMNA
Phenotype: Childhood onset (HP:0011463)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT (OMIM:181350)
Gene: LMNA
Phenotype: Childhood onset (HP:0011463)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY (OMIM:248370)
Gene: LMNA
Phenotype: Childhood onset (HP:0011463)
Associated disease: CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM (OMIM:212112)
Gene: LMNA
Phenotype: Young adult onset (HP:0011462)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT (OMIM:181350)
Gene: LMNA
Phenotype: Young adult onset (HP:0011462)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Young adult onset (HP:0011462)
Associated disease: CARDIOMYOPATHY, DILATED, 1A (OMIM:115200)
Gene: LMNA
Phenotype: Fetal onset (HP:0011461)
Associated disease: RESTRICTIVE DERMOPATHY 2 (OMIM:619793)
Gene: LMNA
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMNA
Phenotype: Hand muscle atrophy (HP:0009130)
Associated disease: AR-CMT2B1; Charcot-Marie-Tooth disease type 2B1; Autosomal recessive Charcot-Marie-Tooth disease type 2B1; Autosomal recessive axonal CMT4C1 (ORPHA:98856)
Gene: LMNA
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: LMNA
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation (ORPHA:300751)
Gene: LMNA
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY (OMIM:248370)
Gene: LMNA
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: Autosomal semi-dominant severe lipodystrophic laminopathy (ORPHA:280365)
Gene: LMNA
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM (OMIM:212112)
Gene: LMNA
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: Autosomal recessive Emery-Dreifuss muscular dystrophy; EDMD3 (ORPHA:98855)
Gene: LMNA
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: LMNA
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: FPLD2; Familial partial lipodystrophy type 2; Dunnigan syndrome; Familial partial lipodystrophy, Dunnigan type (ORPHA:2348)
Gene: LMNA
Phenotype: Narrow chest (HP:0000774)
Associated disease: L-CMD; LMNA-related congenital muscular dystrophy; Congenital muscular dystrophy due to LMNA mutation (ORPHA:157973)
Gene: LMNA
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMNA
Phenotype: Upper limb amyotrophy (HP:0009129)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT (OMIM:181350)
Gene: LMNA
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY (OMIM:248370)
Gene: LMNA
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: LCPS; LMNA-related cardiocutaneous progeria syndrome (ORPHA:363618)
Gene: LMNA
Phenotype: Precocious atherosclerosis (HP:0004416)
Associated disease: Autosomal semi-dominant severe lipodystrophic laminopathy (ORPHA:280365)
Gene: LMNA
Phenotype: Precocious atherosclerosis (HP:0004416)
Associated disease: HUTCHINSON-GILFORD PROGERIA SYNDROME (OMIM:176670)
Gene: LMNA
Phenotype: Abnormality of the pulmonary artery (HP:0004414)
Associated disease: LCPS; LMNA-related cardiocutaneous progeria syndrome (ORPHA:363618)
Gene: LMNA
Phenotype: Abnormality of the pulmonary artery (HP:0004414)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Increased circulating free fatty acid level (HP:0030781)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: LMNA
Phenotype: Myopathy (HP:0003198)
Associated disease: HEART-HAND SYNDROME, SLOVENIAN TYPE (OMIM:610140)
Gene: LMNA
Phenotype: Myopathy (HP:0003198)
Associated disease: Autosomal semi-dominant severe lipodystrophic laminopathy (ORPHA:280365)
Gene: LMNA
Phenotype: Myopathy (HP:0003198)
Associated disease: L-CMD; LMNA-related congenital muscular dystrophy; Congenital muscular dystrophy due to LMNA mutation (ORPHA:157973)
Gene: LMNA
Phenotype: Myopathy (HP:0003198)
Associated disease: Autosomal recessive Emery-Dreifuss muscular dystrophy; EDMD3 (ORPHA:98855)
Gene: LMNA
Phenotype: Myopathy (HP:0003198)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: LMNA
Phenotype: Myopathy (HP:0003198)
Associated disease: FPLD2; Familial partial lipodystrophy type 2; Dunnigan syndrome; Familial partial lipodystrophy, Dunnigan type (ORPHA:2348)
Gene: LMNA
Phenotype: Myopathy (HP:0003198)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Sprengel anomaly (HP:0000912)
Associated disease: Autosomal recessive Emery-Dreifuss muscular dystrophy; EDMD3 (ORPHA:98855)
Gene: LMNA
Phenotype: Sprengel anomaly (HP:0000912)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: LMNA
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMNA
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMNA
Phenotype: Progressive clavicular acroosteolysis (HP:0000905)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Progressive clavicular acroosteolysis (HP:0000905)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY (OMIM:248370)
Gene: LMNA
Phenotype: Progressive clavicular acroosteolysis (HP:0000905)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMNA
Phenotype: Widely patent fontanelles and sutures (HP:0004492)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: LMNA
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMNA
Phenotype: Increased LDL cholesterol concentration (HP:0003141)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Increased LDL cholesterol concentration (HP:0003141)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AUTOSOMAL RECESSIVE (OMIM:616516)
Gene: LMNA
Phenotype: Increased LDL cholesterol concentration (HP:0003141)
Associated disease: Autosomal recessive Emery-Dreifuss muscular dystrophy; EDMD3 (ORPHA:98855)
Gene: LMNA
Phenotype: Increased LDL cholesterol concentration (HP:0003141)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: LMNA
Phenotype: Thin ribs (HP:0000883)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: LMNA
Phenotype: Insulin resistance (HP:0000855)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Insulin resistance (HP:0000855)
Associated disease: Mandibuloacral dysplasia with type A lipodystrophy; MADA (ORPHA:90153)
Gene: LMNA
Phenotype: Insulin resistance (HP:0000855)
Associated disease: Autosomal semi-dominant severe lipodystrophic laminopathy (ORPHA:280365)
Gene: LMNA
Phenotype: Insulin resistance (HP:0000855)
Associated disease: Familial partial lipodystrophy, Köbberling type; FPLD1; Familial partial lipodystrophy type 1 (ORPHA:79084)
Gene: LMNA
Phenotype: Insulin resistance (HP:0000855)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Insulin resistance (HP:0000855)
Associated disease: FPLD2; Familial partial lipodystrophy type 2; Dunnigan syndrome; Familial partial lipodystrophy, Dunnigan type (ORPHA:2348)
Gene: LMNA
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: Autosomal semi-dominant severe lipodystrophic laminopathy (ORPHA:280365)
Gene: LMNA
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: FPLD2; Familial partial lipodystrophy type 2; Dunnigan syndrome; Familial partial lipodystrophy, Dunnigan type (ORPHA:2348)
Gene: LMNA
Phenotype: Scleroderma (HP:0100324)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Scleroderma (HP:0100324)
Associated disease: RESTRICTIVE DERMOPATHY 2 (OMIM:619793)
Gene: LMNA
Phenotype: Scleroderma (HP:0100324)
Associated disease: LCPS; LMNA-related cardiocutaneous progeria syndrome (ORPHA:363618)
Gene: LMNA
Phenotype: Insulin-resistant diabetes mellitus (HP:0000831)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Insulin-resistant diabetes mellitus (HP:0000831)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY (OMIM:248370)
Gene: LMNA
Phenotype: Insulin-resistant diabetes mellitus (HP:0000831)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY (OMIM:248370)
Gene: LMNA
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Familial partial lipodystrophy, Köbberling type; FPLD1; Familial partial lipodystrophy type 1 (ORPHA:79084)
Gene: LMNA
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Familial partial lipodystrophy, Köbberling type; FPLD1; Familial partial lipodystrophy type 1 (ORPHA:79084)
Gene: LMNA
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Autosomal semi-dominant severe lipodystrophic laminopathy (ORPHA:280365)
Gene: LMNA
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: FPLD2; Familial partial lipodystrophy type 2; Dunnigan syndrome; Familial partial lipodystrophy, Dunnigan type (ORPHA:2348)
Gene: LMNA
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM (OMIM:212112)
Gene: LMNA
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: Cardiogenital syndrome; Malouf syndrome; Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome; Najjar syndrome (ORPHA:2229)
Gene: LMNA
Phenotype: Aplasia of the phalanges of the 3rd toe (HP:0100362)
Associated disease: Cardiogenital syndrome; Malouf syndrome; Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome; Najjar syndrome (ORPHA:2229)
Gene: LMNA
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Cardiogenital syndrome; Malouf syndrome; Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome; Najjar syndrome (ORPHA:2229)
Gene: LMNA
Phenotype: Hypertension (HP:0000822)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Hypertension (HP:0000822)
Associated disease: Familial partial lipodystrophy, Köbberling type; FPLD1; Familial partial lipodystrophy type 1 (ORPHA:79084)
Gene: LMNA
Phenotype: Hypertension (HP:0000822)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Hypertension (HP:0000822)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Hypertension (HP:0000822)
Associated disease: LCPS; LMNA-related cardiocutaneous progeria syndrome (ORPHA:363618)
Gene: LMNA
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMNA
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Ankyloglossia (HP:0010296)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Finger clinodactyly (HP:0040019)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Aplasia of the middle phalanx of the hand (HP:0010239)
Associated disease: HEART-HAND SYNDROME, SLOVENIAN TYPE (OMIM:610140)