TaoMedAI/RareMedData huggingface dataset:
Gene: LRP4
Phenotype: Micromelia (HP:0002983)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: LRP4
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: LRP4
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SCLEROSTEOSIS 2 (OMIM:614305)
Gene: LRP4
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CENANI-LENZ SYNDACTYLY SYNDROME (OMIM:212780)
Gene: LRP4
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: CENANI-LENZ SYNDACTYLY SYNDROME (OMIM:212780)
Gene: LRP4
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: LRP4
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: CENANI-LENZ SYNDACTYLY SYNDROME (OMIM:212780)
Gene: LRP4
Phenotype: Short philtrum (HP:0000322)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: LRP4
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: LRP4
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: CENANI-LENZ SYNDACTYLY SYNDROME (OMIM:212780)
Gene: LRP4
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: SCLEROSTEOSIS 2 (OMIM:614305)
Gene: LRP4
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP4
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: SCLEROSTEOSIS 2 (OMIM:614305)
Gene: LRP4
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Sclerosteosis; Cortical hyperostosis-syndactyly syndrome (ORPHA:3152)
Gene: LRP4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: LRP4
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: CENANI-LENZ SYNDACTYLY SYNDROME (OMIM:212780)
Gene: LRP4
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: LRP4
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Anonychia (HP:0001798)
Associated disease: CENANI-LENZ SYNDACTYLY SYNDROME (OMIM:212780)
Gene: LRP4
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: LRP4
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: LRP4
Phenotype: Protruding ear (HP:0000411)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: LRP4
Phenotype: Foot oligodactyly (HP:0001849)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: LRP4
Phenotype: Cataract (HP:0000518)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: LRP4
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Proptosis (HP:0000520)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: LRP4
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP4
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Ptosis (HP:0000508)
Associated disease: Sclerosteosis; Cortical hyperostosis-syndactyly syndrome (ORPHA:3152)
Gene: LRP4
Phenotype: Ptosis (HP:0000508)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: LRP4
Phenotype: Ptosis (HP:0000508)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: LRP4
Phenotype: Ptosis (HP:0000508)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 17 (OMIM:616304)
Gene: LRP4
Phenotype: Absent toenail (HP:0001802)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: LRP4
Phenotype: Absent fingernail (HP:0001817)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: LRP4
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: LRP4
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Prominent forehead (HP:0011220)
Associated disease: CENANI-LENZ SYNDACTYLY SYNDROME (OMIM:212780)
Gene: LRP4
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP4
Phenotype: Hip flexor weakness (HP:0012515)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: LRP6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2 (OMIM:610947)
Gene: LRP6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TOOTH AGENESIS, SELECTIVE, 7 (OMIM:616724)
Gene: LRP6
Phenotype: Peg-shaped maxillary lateral incisors (HP:0006342)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: LRP6
Phenotype: Abnormal primary molar morphology (HP:0006344)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: LRP6
Phenotype: Agenesis of permanent teeth (HP:0006349)
Associated disease: TOOTH AGENESIS, SELECTIVE, 7 (OMIM:616724)
Gene: LRP6
Phenotype: Short dental root (HP:0006336)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: LRP6
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: LRP6
Phenotype: Agenesis of central incisor (HP:0006289)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: LRP6
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2 (OMIM:610947)
Gene: LRP6
Phenotype: Impaired glucose tolerance (HP:0040270)
Associated disease: CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2 (OMIM:610947)
Gene: LRP6
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2 (OMIM:610947)
Gene: LRP6
Phenotype: Adult onset (HP:0003581)
Associated disease: CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2 (OMIM:610947)
Gene: LRP6
Phenotype: Glucose intolerance (HP:0001952)
Associated disease: CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2 (OMIM:610947)
Gene: LRP6
Phenotype: Delayed eruption of permanent teeth (HP:0000696)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: LRP6
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: LRP6
Phenotype: Taurodontia (HP:0000679)
Associated disease: TOOTH AGENESIS, SELECTIVE, 7 (OMIM:616724)
Gene: LRP6
Phenotype: Taurodontia (HP:0000679)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: LRP6
Phenotype: Oligodontia (HP:0000677)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: LRP6
Phenotype: Microdontia (HP:0000691)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: LRP6
Phenotype: Agenesis of maxillary lateral incisor (HP:0000690)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: LRP6
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: LRP6
Phenotype: Hypoplasia of teeth (HP:0000685)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: LRP6
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: LRP6
Phenotype: Gout (HP:0001997)
Associated disease: CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2 (OMIM:610947)
Gene: LRP6
Phenotype: Increased LDL cholesterol concentration (HP:0003141)
Associated disease: CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2 (OMIM:610947)
Gene: LRP6
Phenotype: Hypertension (HP:0000822)
Associated disease: CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2 (OMIM:610947)
Gene: LRP6
Phenotype: Osteoporosis (HP:0000939)
Associated disease: CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2 (OMIM:610947)
Gene: LRP6
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: LRP6
Phenotype: Abnormality of canine (HP:0011078)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: LRP6
Phenotype: Agenesis of mandibular premolar (HP:0011053)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: LRP6
Phenotype: Agenesis of premolar (HP:0011051)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: LRP6
Phenotype: Agenesis of first permanent molar tooth (HP:0011056)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: LRP6
Phenotype: Impaired mastication (HP:0005216)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: LRP6
Phenotype: Premature coronary artery atherosclerosis (HP:0005181)
Associated disease: CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2 (OMIM:610947)
Gene: LRP6
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: LRP6
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2 (OMIM:610947)
Gene: LRP6
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2 (OMIM:610947)
Gene: LRP6
Phenotype: Eclabion (HP:0012472)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: LRP6
Phenotype: Short face (HP:0011219)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: LRP5
Phenotype: Clavicular sclerosis (HP:0100923)
Associated disease: Endosteal hyperostosis, Worth type; Worth syndrome; Autosomal dominant osteosclerosis, Worth type (ORPHA:2790)
Gene: LRP5
Phenotype: Clavicular sclerosis (HP:0100923)
Associated disease: ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT (OMIM:144750)
Gene: LRP5
Phenotype: Retinal exudate (HP:0001147)
Associated disease: EXUDATIVE VITREORETINOPATHY 1 (OMIM:133780)
Gene: LRP5
Phenotype: Retinal exudate (HP:0001147)
Associated disease: EXUDATIVE VITREORETINOPATHY 4 (OMIM:601813)
Gene: LRP5
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LRP5
Phenotype: Severely reduced visual acuity (HP:0001141)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: LRP5
Phenotype: Severely reduced visual acuity (HP:0001141)
Associated disease: Osteoporosis-pseudoglioma syndrome; OPPG; Ocular form of osteogenesis imperfecta (ORPHA:2788)
Gene: LRP5
Phenotype: Retinal arteriolar tortuosity (HP:0001136)
Associated disease: Retinopathy of prematurity; Retrolental fibroplasia; ROP (ORPHA:90050)
Gene: LRP5
Phenotype: Abnormal macular morphology (HP:0001103)
Associated disease: Retinopathy of prematurity; Retrolental fibroplasia; ROP (ORPHA:90050)
Gene: LRP5
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP5
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP5
Phenotype: Motor delay (HP:0001270)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: LRP5
Phenotype: Vitreous floaters (HP:0100832)
Associated disease: EXUDATIVE VITREORETINOPATHY 1 (OMIM:133780)
Gene: LRP5
Phenotype: Vitreous floaters (HP:0100832)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: LRP5
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LRP5
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: LRP5
Phenotype: Hypotonia (HP:0001252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LRP5
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Osteoporosis-pseudoglioma syndrome; OPPG; Ocular form of osteogenesis imperfecta (ORPHA:2788)
Gene: LRP5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LRP5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Sclerotic vertebral body (HP:0100861)
Associated disease: Endosteal hyperostosis, Worth type; Worth syndrome; Autosomal dominant osteosclerosis, Worth type (ORPHA:2790)
Gene: LRP5
Phenotype: Sclerotic vertebral body (HP:0100861)
Associated disease: ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT (OMIM:144750)
Gene: LRP5
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP5
Phenotype: Waddling gait (HP:0002515)
Associated disease: Osteoporosis-pseudoglioma syndrome; OPPG; Ocular form of osteogenesis imperfecta (ORPHA:2788)
Gene: LRP5
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Osteosclerosis-developmental delay-craniosynostosis syndrome (ORPHA:178377)
Gene: LRP5
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS (OMIM:617875)
Gene: LRP5
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: Osteoporosis-pseudoglioma syndrome; OPPG; Ocular form of osteogenesis imperfecta (ORPHA:2788)
Gene: LRP5
Phenotype: Low serum calcitriol (HP:0012052)
Associated disease: Osteoporosis-pseudoglioma syndrome; OPPG; Ocular form of osteogenesis imperfecta (ORPHA:2788)
Gene: LRP5
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LRP5
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Osteoporosis-pseudoglioma syndrome; OPPG; Ocular form of osteogenesis imperfecta (ORPHA:2788)
Gene: LRP5
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: Osteosclerosis-developmental delay-craniosynostosis syndrome (ORPHA:178377)
Gene: LRP5
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 1 (OMIM:607634)
Gene: LRP5
Phenotype: J-shaped sella turcica (HP:0002680)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LRP5
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Osteosclerosis-developmental delay-craniosynostosis syndrome (ORPHA:178377)
Gene: LRP5
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP5
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LRP5
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: LRP5
Phenotype: Decreased palmar creases (HP:0006184)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LRP5
Phenotype: Metacarpal diaphyseal endosteal sclerosis (HP:0006174)
Associated disease: ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT (OMIM:144750)
Gene: LRP5
Phenotype: Abnormality of body height (HP:0000002)
Associated disease: ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT (OMIM:144750)
Gene: LRP5
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LRP5
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: Osteoporosis-pseudoglioma syndrome; OPPG; Ocular form of osteogenesis imperfecta (ORPHA:2788)
Gene: LRP5
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP5
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LRP5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LRP5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EXUDATIVE VITREORETINOPATHY 4 (OMIM:601813)
Gene: LRP5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LRP5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 1 (OMIM:607634)
Gene: LRP5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS (OMIM:617875)
Gene: LRP5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LRP5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EXUDATIVE VITREORETINOPATHY 1 (OMIM:133780)
Gene: LRP5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EXUDATIVE VITREORETINOPATHY 4 (OMIM:601813)
Gene: LRP5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT (OMIM:144750)
Gene: LRP5
Phenotype: Scoliosis (HP:0002650)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LRP5
Phenotype: Scoliosis (HP:0002650)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LRP5
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP5
Phenotype: Wormian bones (HP:0002645)
Associated disease: Osteoporosis-pseudoglioma syndrome; OPPG; Ocular form of osteogenesis imperfecta (ORPHA:2788)
Gene: LRP5
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 1 (OMIM:607634)
Gene: LRP5
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT (OMIM:144750)
Gene: LRP5
Phenotype: Vascular dilatation (HP:0002617)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: LRP5
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP5
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LRP5
Phenotype: Falciform retinal fold (HP:0001493)
Associated disease: EXUDATIVE VITREORETINOPATHY 1 (OMIM:133780)
Gene: LRP5
Phenotype: Falciform retinal fold (HP:0001493)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: LRP5
Phenotype: Falciform retinal fold (HP:0001493)
Associated disease: EXUDATIVE VITREORETINOPATHY 4 (OMIM:601813)
Gene: LRP5
Phenotype: Posterior vitreous detachment (HP:0001489)
Associated disease: EXUDATIVE VITREORETINOPATHY 1 (OMIM:133780)
Gene: LRP5
Phenotype: Posterior vitreous detachment (HP:0001489)
Associated disease: EXUDATIVE VITREORETINOPATHY 4 (OMIM:601813)
Gene: LRP5
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Peripheral retinal avascularization (HP:0007685)
Associated disease: EXUDATIVE VITREORETINOPATHY 1 (OMIM:133780)
Gene: LRP5
Phenotype: Peripheral retinal avascularization (HP:0007685)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: LRP5
Phenotype: Peripheral retinal avascularization (HP:0007685)
Associated disease: EXUDATIVE VITREORETINOPATHY 4 (OMIM:601813)
Gene: LRP5
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LRP5
Phenotype: Diaphyseal undertubulation (HP:0005019)
Associated disease: Endosteal hyperostosis, Worth type; Worth syndrome; Autosomal dominant osteosclerosis, Worth type (ORPHA:2790)
Gene: LRP5
Phenotype: Diaphyseal undertubulation (HP:0005019)
Associated disease: Hyperphosphatasemia tarda; Van Buchem disease; Hyperostosis corticalis generalisata (ORPHA:3416)
Gene: LRP5
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LRP5
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: EXUDATIVE VITREORETINOPATHY 4 (OMIM:601813)
Gene: LRP5
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: EXUDATIVE VITREORETINOPATHY 1 (OMIM:133780)
Gene: LRP5
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinopathy of prematurity; Retrolental fibroplasia; ROP (ORPHA:90050)
Gene: LRP5
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: LRP5
Phenotype: Floppy infant (HP:0008947)
Associated disease: Osteoporosis-pseudoglioma syndrome; OPPG; Ocular form of osteogenesis imperfecta (ORPHA:2788)
Gene: LRP5
Phenotype: Retinopathy of prematurity (HP:0500049)
Associated disease: Retinopathy of prematurity; Retrolental fibroplasia; ROP (ORPHA:90050)
Gene: LRP5
Phenotype: Angle closure glaucoma (HP:0012109)
Associated disease: Osteoporosis-pseudoglioma syndrome; OPPG; Ocular form of osteogenesis imperfecta (ORPHA:2788)