TaoMedAI/RareMedData huggingface dataset:
Gene: LAMA3
Phenotype: Hoarse cry (HP:0001615)
Associated disease: LARYNGOONYCHOCUTANEOUS SYNDROME (OMIM:245660)
Gene: LAMA3
Phenotype: Weak cry (HP:0001612)
Associated disease: LARYNGOONYCHOCUTANEOUS SYNDROME (OMIM:245660)
Gene: LAMA3
Phenotype: Erosion of oral mucosa (HP:0031446)
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: Dilated cardiomyopathy (HP:0001644)
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: Bradycardia (HP:0001662)
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: Mitten deformity (HP:0004057)
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: Inspiratory stridor (HP:0005348)
Associated disease: Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome; Shabbir syndrome; LOGIC syndrome; Laryngo-onycho-cutaneous syndrome; LOC syndrome (ORPHA:2407)
Gene: LAMA3
Phenotype: Abnormal cornea morphology (HP:0000481)
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: Anonychia (HP:0001798)
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: Anonychia (HP:0001798)
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: Epistaxis (HP:0000421)
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: Visual impairment (HP:0000505)
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: Paronychia (HP:0001818)
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: LAMA4
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: LAMA4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, DILATED, 1JJ (OMIM:615235)
Gene: LAMA4
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: LAMA4
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: LAMA4
Phenotype: Middle age onset (HP:0003596)
Associated disease: CARDIOMYOPATHY, DILATED, 1JJ (OMIM:615235)
Gene: LAMA4
Phenotype: Late onset (HP:0003584)
Associated disease: CARDIOMYOPATHY, DILATED, 1JJ (OMIM:615235)
Gene: LAMA4
Phenotype: Reduced left ventricular ejection fraction (HP:0012664)
Associated disease: CARDIOMYOPATHY, DILATED, 1JJ (OMIM:615235)
Gene: LAMA4
Phenotype: Young adult onset (HP:0011462)
Associated disease: CARDIOMYOPATHY, DILATED, 1JJ (OMIM:615235)
Gene: LAMA4
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: LAMA4
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: LAMA4
Phenotype: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: LAMA4
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: LAMA4
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: LAMA4
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: LAMA4
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: LAMA4
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: CARDIOMYOPATHY, DILATED, 1JJ (OMIM:615235)
Gene: LAMA4
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: LAMA4
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: LAMA4
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: LAMA5
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: LAMA5
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: NEPHROTIC SYNDROME, TYPE 26 (OMIM:620049)
Gene: LAMA5
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LAMA5
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LAMA5
Phenotype: Peritonitis (HP:0002586)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: LAMA5
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Bowed humerus (HP:0003865)
Associated disease: BENT BONE DYSPLASIA SYNDROME 2 (OMIM:620076)
Gene: LAMA5
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LAMA5
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: LAMA5
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: NEPHROTIC SYNDROME, TYPE 26 (OMIM:620049)
Gene: LAMA5
Phenotype: Proteinuria (HP:0000093)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: LAMA5
Phenotype: Micropenis (HP:0000054)
Associated disease: BENT BONE DYSPLASIA SYNDROME 2 (OMIM:620076)
Gene: LAMA5
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Shawl scrotum (HP:0000049)
Associated disease: BENT BONE DYSPLASIA SYNDROME 2 (OMIM:620076)
Gene: LAMA5
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LAMA5
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LAMA5
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEPHROTIC SYNDROME, TYPE 26 (OMIM:620049)
Gene: LAMA5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BENT BONE DYSPLASIA SYNDROME 2 (OMIM:620076)
Gene: LAMA5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LAMA5
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LAMA5
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LAMA5
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: NEPHROTIC SYNDROME, TYPE 26 (OMIM:620049)
Gene: LAMA5
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: LAMA5
Phenotype: Butterfly vertebrae (HP:0003316)
Associated disease: BENT BONE DYSPLASIA SYNDROME 2 (OMIM:620076)
Gene: LAMA5
Phenotype: Periorbital edema (HP:0100539)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: LAMA5
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LAMA5
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Ulnar deviation of the hand (HP:0009487)
Associated disease: BENT BONE DYSPLASIA SYNDROME 2 (OMIM:620076)
Gene: LAMA5
Phenotype: Coronal cleft vertebrae (HP:0003417)
Associated disease: BENT BONE DYSPLASIA SYNDROME 2 (OMIM:620076)
Gene: LAMA5
Phenotype: Congenital onset (HP:0003577)
Associated disease: BENT BONE DYSPLASIA SYNDROME 2 (OMIM:620076)
Gene: LAMA5
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: BENT BONE DYSPLASIA SYNDROME 2 (OMIM:620076)
Gene: LAMA5
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: LAMA5
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LAMA5
Phenotype: Headache (HP:0002315)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: LAMA5
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LAMA5
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LAMA5
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LAMA5
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: LAMA5
Phenotype: Diffuse mesangial sclerosis (HP:0001967)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: LAMA5
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LAMA5
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LAMA5
Phenotype: Fever (HP:0001945)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: LAMA5
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LAMA5
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Short 1st metacarpal (HP:0010034)
Associated disease: BENT BONE DYSPLASIA SYNDROME 2 (OMIM:620076)
Gene: LAMA5
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LAMA5
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: LAMA5
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LAMA5
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LAMA5
Phenotype: Ulnar bowing (HP:0003031)
Associated disease: BENT BONE DYSPLASIA SYNDROME 2 (OMIM:620076)
Gene: LAMA5
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Irritability (HP:0000737)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: LAMA5
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: LAMA5
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEPHROTIC SYNDROME, TYPE 26 (OMIM:620049)
Gene: LAMA5
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Short ribs (HP:0000773)
Associated disease: BENT BONE DYSPLASIA SYNDROME 2 (OMIM:620076)
Gene: LAMA5
Phenotype: Short tibia (HP:0005736)
Associated disease: BENT BONE DYSPLASIA SYNDROME 2 (OMIM:620076)
Gene: LAMA5
Phenotype: Platyspondyly (HP:0000926)
Associated disease: BENT BONE DYSPLASIA SYNDROME 2 (OMIM:620076)
Gene: LAMA5
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: BENT BONE DYSPLASIA SYNDROME 2 (OMIM:620076)
Gene: LAMA5
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LAMA5
Phenotype: Short sternum (HP:0000879)
Associated disease: BENT BONE DYSPLASIA SYNDROME 2 (OMIM:620076)
Gene: LAMA5
Phenotype: Thin ribs (HP:0000883)
Associated disease: BENT BONE DYSPLASIA SYNDROME 2 (OMIM:620076)
Gene: LAMA5
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LAMA5
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LAMA5
Phenotype: Hypoplastic acetabulae (HP:0003274)
Associated disease: BENT BONE DYSPLASIA SYNDROME 2 (OMIM:620076)
Gene: LAMA5
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Edema (HP:0000969)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: LAMA5
Phenotype: Osteopenia (HP:0000938)
Associated disease: BENT BONE DYSPLASIA SYNDROME 2 (OMIM:620076)
Gene: LAMA5
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: BENT BONE DYSPLASIA SYNDROME 2 (OMIM:620076)
Gene: LAMA5
Phenotype: Short lower limbs (HP:0006385)
Associated disease: BENT BONE DYSPLASIA SYNDROME 2 (OMIM:620076)
Gene: LAMA5
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LAMA5
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LAMA5
Phenotype: Hypoplastic iliac wing (HP:0002866)
Associated disease: BENT BONE DYSPLASIA SYNDROME 2 (OMIM:620076)
Gene: LAMA5
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: BENT BONE DYSPLASIA SYNDROME 2 (OMIM:620076)
Gene: LAMA5
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LAMA5
Phenotype: Foamy urine (HP:0031504)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: LAMA5
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LAMA5
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LAMA5
Phenotype: Femoral bowing (HP:0002980)
Associated disease: BENT BONE DYSPLASIA SYNDROME 2 (OMIM:620076)
Gene: LAMA5
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: BENT BONE DYSPLASIA SYNDROME 2 (OMIM:620076)
Gene: LAMA5
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LAMA5
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: BENT BONE DYSPLASIA SYNDROME 2 (OMIM:620076)
Gene: LAMA5
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: BENT BONE DYSPLASIA SYNDROME 2 (OMIM:620076)
Gene: LAMA5
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: BENT BONE DYSPLASIA SYNDROME 2 (OMIM:620076)
Gene: LAMA5
Phenotype: Thickened nuchal skin fold (HP:0000474)
Associated disease: BENT BONE DYSPLASIA SYNDROME 2 (OMIM:620076)
Gene: LAMA5
Phenotype: Short neck (HP:0000470)
Associated disease: BENT BONE DYSPLASIA SYNDROME 2 (OMIM:620076)
Gene: LAMA5
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Webbed neck (HP:0000465)
Associated disease: BENT BONE DYSPLASIA SYNDROME 2 (OMIM:620076)