TaoMedAI/RareMedData huggingface dataset:
Gene: LRP5
Phenotype: Early satiety (HP:0033842)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: LRP5
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: EXUDATIVE VITREORETINOPATHY 1 (OMIM:133780)
Gene: LRP5
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LRP5
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 1 (OMIM:607634)
Gene: LRP5
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LRP5
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LRP5
Phenotype: Renal cyst (HP:0000107)
Associated disease: POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS (OMIM:617875)
Gene: LRP5
Phenotype: Hepatic cysts (HP:0001407)
Associated disease: POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS (OMIM:617875)
Gene: LRP5
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LRP5
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LRP5
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: LRP5
Phenotype: Abnormal femoral neck/head morphology (HP:0003366)
Associated disease: Osteoporosis-pseudoglioma syndrome; OPPG; Ocular form of osteogenesis imperfecta (ORPHA:2788)
Gene: LRP5
Phenotype: Abdominal pain (HP:0002027)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: LRP5
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Osteoporosis-pseudoglioma syndrome; OPPG; Ocular form of osteogenesis imperfecta (ORPHA:2788)
Gene: LRP5
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Endosteal hyperostosis, Worth type; Worth syndrome; Autosomal dominant osteosclerosis, Worth type (ORPHA:2790)
Gene: LRP5
Phenotype: Abnormality of the respiratory system (HP:0002086)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: LRP5
Phenotype: Dyspnea (HP:0002094)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: LRP5
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: LRP5
Phenotype: Thenar muscle atrophy (HP:0003393)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LRP5
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: LRP5
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP5
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Metatarsal diaphyseal endosteal sclerosis (HP:0008114)
Associated disease: ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT (OMIM:144750)
Gene: LRP5
Phenotype: Contracture of the proximal interphalangeal joint of the 3rd finger (HP:0009471)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LRP5
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LRP5
Phenotype: Porencephalic cyst (HP:0002132)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LRP5
Phenotype: Back pain (HP:0003418)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: LRP5
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Osteoporosis-pseudoglioma syndrome; OPPG; Ocular form of osteogenesis imperfecta (ORPHA:2788)
Gene: LRP5
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LRP5
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LRP5
Phenotype: Isosexual precocious puberty (HP:0008236)
Associated disease: Osteoporosis-pseudoglioma syndrome; OPPG; Ocular form of osteogenesis imperfecta (ORPHA:2788)
Gene: LRP5
Phenotype: Contracture of the proximal interphalangeal joint of the 2nd finger (HP:0009540)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LRP5
Phenotype: Infantile onset (HP:0003593)
Associated disease: EXUDATIVE VITREORETINOPATHY 1 (OMIM:133780)
Gene: LRP5
Phenotype: Infantile onset (HP:0003593)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LRP5
Phenotype: Infantile onset (HP:0003593)
Associated disease: EXUDATIVE VITREORETINOPATHY 4 (OMIM:601813)
Gene: LRP5
Phenotype: Congenital onset (HP:0003577)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LRP5
Phenotype: Increased total bilirubin (HP:0003573)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: LRP5
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: LRP5
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: LRP5
Phenotype: Adult onset (HP:0003581)
Associated disease: EXUDATIVE VITREORETINOPATHY 1 (OMIM:133780)
Gene: LRP5
Phenotype: Coarse hair (HP:0002208)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LRP5
Phenotype: Hyperostosis (HP:0100774)
Associated disease: ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT (OMIM:144750)
Gene: LRP5
Phenotype: Torus palatinus (HP:0100789)
Associated disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 1 (OMIM:607634)
Gene: LRP5
Phenotype: Torus palatinus (HP:0100789)
Associated disease: Endosteal hyperostosis, Worth type; Worth syndrome; Autosomal dominant osteosclerosis, Worth type (ORPHA:2790)
Gene: LRP5
Phenotype: Torus palatinus (HP:0100789)
Associated disease: ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT (OMIM:144750)
Gene: LRP5
Phenotype: Facial palsy (HP:0010628)
Associated disease: Hyperphosphatasemia tarda; Van Buchem disease; Hyperostosis corticalis generalisata (ORPHA:3416)
Gene: LRP5
Phenotype: Facial palsy (HP:0010628)
Associated disease: Endosteal hyperostosis, Worth type; Worth syndrome; Autosomal dominant osteosclerosis, Worth type (ORPHA:2790)
Gene: LRP5
Phenotype: Facial palsy (HP:0010628)
Associated disease: Osteosclerosis-developmental delay-craniosynostosis syndrome (ORPHA:178377)
Gene: LRP5
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LRP5
Phenotype: Arterial rupture (HP:0025019)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LRP5
Phenotype: Ectopic fovea (HP:0025007)
Associated disease: EXUDATIVE VITREORETINOPATHY 1 (OMIM:133780)
Gene: LRP5
Phenotype: Lymphedema (HP:0001004)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: LRP5
Phenotype: Slowly progressive (HP:0003677)
Associated disease: EXUDATIVE VITREORETINOPATHY 1 (OMIM:133780)
Gene: LRP5
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP5
Phenotype: Headache (HP:0002315)
Associated disease: Osteosclerosis-developmental delay-craniosynostosis syndrome (ORPHA:178377)
Gene: LRP5
Phenotype: Headache (HP:0002315)
Associated disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 1 (OMIM:607634)
Gene: LRP5
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Prolonged partial thromboplastin time (HP:0003645)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LRP5
Phenotype: Mandibular pain (HP:0200025)
Associated disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 1 (OMIM:607634)
Gene: LRP5
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Iris atrophy (HP:0001089)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LRP5
Phenotype: Pedal edema (HP:0010741)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: LRP5
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP5
Phenotype: Abnormal prothrombin time (HP:0032199)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LRP5
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LRP5
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP5
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LRP5
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: LRP5
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP5
Phenotype: Macular telangiectasia (HP:0030503)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: LRP5
Phenotype: Moderately reduced visual acuity (HP:0030515)
Associated disease: Osteoporosis-pseudoglioma syndrome; OPPG; Ocular form of osteogenesis imperfecta (ORPHA:2788)
Gene: LRP5
Phenotype: Visual acuity light perception with projection (HP:0030551)
Associated disease: Osteoporosis-pseudoglioma syndrome; OPPG; Ocular form of osteogenesis imperfecta (ORPHA:2788)
Gene: LRP5
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Multiple renal cysts (HP:0005562)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: LRP5
Phenotype: Nystagmus (HP:0000639)
Associated disease: Endosteal hyperostosis, Worth type; Worth syndrome; Autosomal dominant osteosclerosis, Worth type (ORPHA:2790)
Gene: LRP5
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP5
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP5
Phenotype: Amblyopia (HP:0000646)
Associated disease: Retinopathy of prematurity; Retrolental fibroplasia; ROP (ORPHA:90050)
Gene: LRP5
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Osteosclerosis-developmental delay-craniosynostosis syndrome (ORPHA:178377)
Gene: LRP5
Phenotype: Blindness (HP:0000618)
Associated disease: EXUDATIVE VITREORETINOPATHY 1 (OMIM:133780)
Gene: LRP5
Phenotype: Blindness (HP:0000618)
Associated disease: Retinopathy of prematurity; Retrolental fibroplasia; ROP (ORPHA:90050)
Gene: LRP5
Phenotype: Blindness (HP:0000618)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LRP5
Phenotype: Blindness (HP:0000618)
Associated disease: EXUDATIVE VITREORETINOPATHY 4 (OMIM:601813)
Gene: LRP5
Phenotype: Blindness (HP:0000618)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: LRP5
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP5
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Exudative vitreoretinopathy (HP:0030490)
Associated disease: Osteoporosis-pseudoglioma syndrome; OPPG; Ocular form of osteogenesis imperfecta (ORPHA:2788)
Gene: LRP5
Phenotype: Exudative vitreoretinopathy (HP:0030490)
Associated disease: EXUDATIVE VITREORETINOPATHY 1 (OMIM:133780)
Gene: LRP5
Phenotype: Exudative vitreoretinopathy (HP:0030490)
Associated disease: EXUDATIVE VITREORETINOPATHY 4 (OMIM:601813)
Gene: LRP5
Phenotype: Macular exudate (HP:0030496)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: LRP5
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: Osteosclerosis-developmental delay-craniosynostosis syndrome (ORPHA:178377)
Gene: LRP5
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: LRP5
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT (OMIM:144750)
Gene: LRP5
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LRP5
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP5
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Phthisis bulbi (HP:0000667)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LRP5
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Short stature (HP:0004322)
Associated disease: Osteoporosis-pseudoglioma syndrome; OPPG; Ocular form of osteogenesis imperfecta (ORPHA:2788)
Gene: LRP5
Phenotype: Short stature (HP:0004322)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LRP5
Phenotype: Abnormal vitreous humor morphology (HP:0004327)
Associated disease: Osteoporosis-pseudoglioma syndrome; OPPG; Ocular form of osteogenesis imperfecta (ORPHA:2788)
Gene: LRP5
Phenotype: Retinal neovascularization (HP:0030666)
Associated disease: EXUDATIVE VITREORETINOPATHY 1 (OMIM:133780)
Gene: LRP5
Phenotype: Retinal neovascularization (HP:0030666)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: LRP5
Phenotype: Congenital nystagmus (HP:0006934)
Associated disease: Osteoporosis-pseudoglioma syndrome; OPPG; Ocular form of osteogenesis imperfecta (ORPHA:2788)
Gene: LRP5
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Osteoporosis-pseudoglioma syndrome; OPPG; Ocular form of osteogenesis imperfecta (ORPHA:2788)
Gene: LRP5
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP5
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP5
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LRP5
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: Osteoporosis-pseudoglioma syndrome; OPPG; Ocular form of osteogenesis imperfecta (ORPHA:2788)
Gene: LRP5
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: LRP5
Phenotype: Epiretinal membrane (HP:0100014)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: LRP5
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Endosteal hyperostosis, Worth type; Worth syndrome; Autosomal dominant osteosclerosis, Worth type (ORPHA:2790)
Gene: LRP5
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Osteoporosis-pseudoglioma syndrome; OPPG; Ocular form of osteogenesis imperfecta (ORPHA:2788)
Gene: LRP5
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Abnormal optic disc morphology (HP:0012795)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: LRP5
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LRP5
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LRP5
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Fetal onset (HP:0011461)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LRP5
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Diaphragmatic eventration (HP:0009110)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LRP5
Phenotype: Cranial hyperostosis (HP:0004437)
Associated disease: Hyperphosphatasemia tarda; Van Buchem disease; Hyperostosis corticalis generalisata (ORPHA:3416)
Gene: LRP5
Phenotype: Abnormal cortical bone morphology (HP:0003103)
Associated disease: Endosteal hyperostosis, Worth type; Worth syndrome; Autosomal dominant osteosclerosis, Worth type (ORPHA:2790)
Gene: LRP5
Phenotype: Abnormal cortical bone morphology (HP:0003103)
Associated disease: Hyperphosphatasemia tarda; Van Buchem disease; Hyperostosis corticalis generalisata (ORPHA:3416)
Gene: LRP5
Phenotype: Flat forehead (HP:0004425)
Associated disease: ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT (OMIM:144750)
Gene: LRP5
Phenotype: Short nose (HP:0003196)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LRP5
Phenotype: Abnormality of the vertebral column (HP:0000925)
Associated disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 1 (OMIM:607634)
Gene: LRP5
Phenotype: Platyspondyly (HP:0000926)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LRP5
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Platyspondyly (HP:0000926)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LRP5
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: LRP5
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Craniofacial hyperostosis (HP:0004493)
Associated disease: Endosteal hyperostosis, Worth type; Worth syndrome; Autosomal dominant osteosclerosis, Worth type (ORPHA:2790)
Gene: LRP5
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP5
Phenotype: Generalized osteosclerosis (HP:0005789)
Associated disease: Hyperphosphatasemia tarda; Van Buchem disease; Hyperostosis corticalis generalisata (ORPHA:3416)
Gene: LRP5
Phenotype: Generalized osteosclerosis (HP:0005789)
Associated disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 1 (OMIM:607634)
Gene: LRP5
Phenotype: Generalized osteosclerosis (HP:0005789)
Associated disease: Endosteal hyperostosis, Worth type; Worth syndrome; Autosomal dominant osteosclerosis, Worth type (ORPHA:2790)
Gene: LRP5
Phenotype: Elevated serum acid phosphatase (HP:0003148)
Associated disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 1 (OMIM:607634)
Gene: LRP5
Phenotype: Retinal hole (HP:0011530)
Associated disease: EXUDATIVE VITREORETINOPATHY 1 (OMIM:133780)
Gene: LRP5
Phenotype: Abnormal clavicle morphology (HP:0000889)
Associated disease: Hyperphosphatasemia tarda; Van Buchem disease; Hyperostosis corticalis generalisata (ORPHA:3416)
Gene: LRP5
Phenotype: Broad jaw (HP:0012802)
Associated disease: Osteosclerosis-developmental delay-craniosynostosis syndrome (ORPHA:178377)
Gene: LRP5
Phenotype: Hypoplasia of the capital femoral epiphysis (HP:0003090)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LRP5
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP5
Phenotype: Macular edema (HP:0040049)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: LRP5
Phenotype: Abnormal lower limb bone morphology (HP:0040069)
Associated disease: Osteoporosis-pseudoglioma syndrome; OPPG; Ocular form of osteogenesis imperfecta (ORPHA:2788)
Gene: LRP5
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Severe platyspondyly (HP:0004565)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LRP5
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP5
Phenotype: Abdominal distention (HP:0003270)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: LRP5
Phenotype: Biconcave vertebral bodies (HP:0004586)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LRP5
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LRP5
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Jaundice (HP:0000952)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: LRP5
Phenotype: Osteoporosis (HP:0000939)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LRP5
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Osteoporosis-pseudoglioma syndrome; OPPG; Ocular form of osteogenesis imperfecta (ORPHA:2788)
Gene: LRP5
Phenotype: Thickened cortex of long bones (HP:0000935)
Associated disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 1 (OMIM:607634)
Gene: LRP5
Phenotype: Thickened cortex of long bones (HP:0000935)
Associated disease: ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT (OMIM:144750)
Gene: LRP5
Phenotype: Osteopenia (HP:0000938)
Associated disease: EXUDATIVE VITREORETINOPATHY 4 (OMIM:601813)