TaoMedAI/RareMedData huggingface dataset:
Gene: LRP5
Phenotype: Osteopenia (HP:0000938)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LRP5
Phenotype: Osteopenia (HP:0000938)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LRP5
Phenotype: Osteopenia (HP:0000938)
Associated disease: Osteoporosis-pseudoglioma syndrome; OPPG; Ocular form of osteogenesis imperfecta (ORPHA:2788)
Gene: LRP5
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinopathy of prematurity; Retrolental fibroplasia; ROP (ORPHA:90050)
Gene: LRP5
Phenotype: Absent anterior chamber of the eye (HP:0008037)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LRP5
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Osteosclerosis-developmental delay-craniosynostosis syndrome (ORPHA:178377)
Gene: LRP5
Phenotype: Malar flattening (HP:0000272)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LRP5
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: LRP5
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LRP5
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LRP5
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Kyphosis (HP:0002808)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LRP5
Phenotype: Crumpled long bones (HP:0006367)
Associated disease: Osteoporosis-pseudoglioma syndrome; OPPG; Ocular form of osteogenesis imperfecta (ORPHA:2788)
Gene: LRP5
Phenotype: Rhegmatogenous retinal detachment (HP:0012230)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: LRP5
Phenotype: Microcephaly (HP:0000252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LRP5
Phenotype: Microcephaly (HP:0000252)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: LRP5
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Osteosclerosis-developmental delay-craniosynostosis syndrome (ORPHA:178377)
Gene: LRP5
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LRP5
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP5
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP5
Phenotype: Growth abnormality (HP:0001507)
Associated disease: ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT (OMIM:144750)
Gene: LRP5
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Retinopathy of prematurity; Retrolental fibroplasia; ROP (ORPHA:90050)
Gene: LRP5
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LRP5
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LRP5
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP5
Phenotype: Horizontal pendular nystagmus (HP:0007811)
Associated disease: EXUDATIVE VITREORETINOPATHY 4 (OMIM:601813)
Gene: LRP5
Phenotype: Subretinal fluid (HP:0031526)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: LRP5
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: Osteoporosis-pseudoglioma syndrome; OPPG; Ocular form of osteogenesis imperfecta (ORPHA:2788)
Gene: LRP5
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Flat face (HP:0012368)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LRP5
Phenotype: Exudative retinopathy (HP:0007898)
Associated disease: Osteoporosis-pseudoglioma syndrome; OPPG; Ocular form of osteogenesis imperfecta (ORPHA:2788)
Gene: LRP5
Phenotype: Exudative retinopathy (HP:0007898)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LRP5
Phenotype: Polycystic liver disease (HP:0006557)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: LRP5
Phenotype: Congenital blindness (HP:0007875)
Associated disease: Osteoporosis-pseudoglioma syndrome; OPPG; Ocular form of osteogenesis imperfecta (ORPHA:2788)
Gene: LRP5
Phenotype: Congenital blindness (HP:0007875)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LRP5
Phenotype: Retinal calcification (HP:0007862)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LRP5
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Osteosclerosis-developmental delay-craniosynostosis syndrome (ORPHA:178377)
Gene: LRP5
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: LRP5
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP5
Phenotype: Low-set ears (HP:0000369)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LRP5
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Osteopetrosis (HP:0011002)
Associated disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 1 (OMIM:607634)
Gene: LRP5
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: Osteosclerosis-developmental delay-craniosynostosis syndrome (ORPHA:178377)
Gene: LRP5
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP5
Phenotype: Broad forehead (HP:0000337)
Associated disease: Osteosclerosis-developmental delay-craniosynostosis syndrome (ORPHA:178377)
Gene: LRP5
Phenotype: High forehead (HP:0000348)
Associated disease: Osteosclerosis-developmental delay-craniosynostosis syndrome (ORPHA:178377)
Gene: LRP5
Phenotype: Tibial bowing (HP:0002982)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LRP5
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Osteosclerosis-developmental delay-craniosynostosis syndrome (ORPHA:178377)
Gene: LRP5
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: LRP5
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LRP5
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LRP5
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LRP5
Phenotype: Premature birth (HP:0001622)
Associated disease: Retinopathy of prematurity; Retrolental fibroplasia; ROP (ORPHA:90050)
Gene: LRP5
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Pointed chin (HP:0000307)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LRP5
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP5
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Hyperphosphatasemia tarda; Van Buchem disease; Hyperostosis corticalis generalisata (ORPHA:3416)
Gene: LRP5
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Endosteal hyperostosis, Worth type; Worth syndrome; Autosomal dominant osteosclerosis, Worth type (ORPHA:2790)
Gene: LRP5
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Osteoporosis-pseudoglioma syndrome; OPPG; Ocular form of osteogenesis imperfecta (ORPHA:2788)
Gene: LRP5
Phenotype: Tractional retinal detachment (HP:0007917)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: LRP5
Phenotype: Tractional retinal detachment (HP:0007917)
Associated disease: Retinopathy of prematurity; Retrolental fibroplasia; ROP (ORPHA:90050)
Gene: LRP5
Phenotype: Tractional retinal detachment (HP:0007917)
Associated disease: EXUDATIVE VITREORETINOPATHY 4 (OMIM:601813)
Gene: LRP5
Phenotype: Vitreous hemorrhage (HP:0007902)
Associated disease: EXUDATIVE VITREORETINOPATHY 1 (OMIM:133780)
Gene: LRP5
Phenotype: Vitreous hemorrhage (HP:0007902)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: LRP5
Phenotype: Vitreous hemorrhage (HP:0007902)
Associated disease: Retinopathy of prematurity; Retrolental fibroplasia; ROP (ORPHA:90050)
Gene: LRP5
Phenotype: Vitreous hemorrhage (HP:0007902)
Associated disease: EXUDATIVE VITREORETINOPATHY 4 (OMIM:601813)
Gene: LRP5
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Hyperphosphatasemia tarda; Van Buchem disease; Hyperostosis corticalis generalisata (ORPHA:3416)
Gene: LRP5
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Endosteal hyperostosis, Worth type; Worth syndrome; Autosomal dominant osteosclerosis, Worth type (ORPHA:2790)
Gene: LRP5
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LRP5
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT (OMIM:144750)
Gene: LRP5
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 1 (OMIM:607634)
Gene: LRP5
Phenotype: Abnormality of the pancreas (HP:0001732)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: LRP5
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Strabismus (HP:0000486)
Associated disease: Retinopathy of prematurity; Retrolental fibroplasia; ROP (ORPHA:90050)
Gene: LRP5
Phenotype: Anteverted nares (HP:0000463)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LRP5
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LRP5
Phenotype: Calvarial osteosclerosis (HP:0005450)
Associated disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 1 (OMIM:607634)
Gene: LRP5
Phenotype: Cataract (HP:0000518)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LRP5
Phenotype: Cataract (HP:0000518)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: LRP5
Phenotype: Cataract (HP:0000518)
Associated disease: Retinopathy of prematurity; Retrolental fibroplasia; ROP (ORPHA:90050)
Gene: LRP5
Phenotype: Cataract (HP:0000518)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LRP5
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LRP5
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP5
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Subcapsular cataract (HP:0000523)
Associated disease: EXUDATIVE VITREORETINOPATHY 1 (OMIM:133780)
Gene: LRP5
Phenotype: Subcapsular cataract (HP:0000523)
Associated disease: EXUDATIVE VITREORETINOPATHY 4 (OMIM:601813)
Gene: LRP5
Phenotype: Visual impairment (HP:0000505)
Associated disease: Osteosclerosis-developmental delay-craniosynostosis syndrome (ORPHA:178377)
Gene: LRP5
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinopathy of prematurity; Retrolental fibroplasia; ROP (ORPHA:90050)
Gene: LRP5
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LRP5
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Blue sclerae (HP:0000592)
Associated disease: Osteoporosis-pseudoglioma syndrome; OPPG; Ocular form of osteogenesis imperfecta (ORPHA:2788)
Gene: LRP5
Phenotype: Shallow orbits (HP:0000586)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LRP5
Phenotype: Microphthalmia (HP:0000568)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LRP5
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Osteoporosis-pseudoglioma syndrome; OPPG; Ocular form of osteogenesis imperfecta (ORPHA:2788)
Gene: LRP5
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: LRP5
Phenotype: Esotropia (HP:0000565)
Associated disease: EXUDATIVE VITREORETINOPATHY 1 (OMIM:133780)
Gene: LRP5
Phenotype: Retinal detachment (HP:0000541)
Associated disease: EXUDATIVE VITREORETINOPATHY 1 (OMIM:133780)
Gene: LRP5
Phenotype: Retinal detachment (HP:0000541)
Associated disease: Osteoporosis-pseudoglioma syndrome; OPPG; Ocular form of osteogenesis imperfecta (ORPHA:2788)
Gene: LRP5
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP5
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: LRP5
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP5
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LRP5
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LRP5
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LRP5
Phenotype: Myopia (HP:0000545)
Associated disease: Retinopathy of prematurity; Retrolental fibroplasia; ROP (ORPHA:90050)
Gene: LRP5
Phenotype: Myopia (HP:0000545)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LRPAP1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LRPAP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LRPAP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYOPIA 23, AUTOSOMAL RECESSIVE (OMIM:615431)
Gene: LRPAP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LRPAP1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LRPAP1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LRPAP1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: MYOPIA 23, AUTOSOMAL RECESSIVE (OMIM:615431)
Gene: LRPAP1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LRPAP1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LRPAP1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LRPAP1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LRPAP1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LRPAP1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LRPAP1
Phenotype: Increased axial length of the globe (HP:0007800)
Associated disease: MYOPIA 23, AUTOSOMAL RECESSIVE (OMIM:615431)
Gene: LRPAP1
Phenotype: High myopia (HP:0011003)
Associated disease: MYOPIA 23, AUTOSOMAL RECESSIVE (OMIM:615431)
Gene: LRPAP1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LRPAP1
Phenotype: Visual impairment (HP:0000505)
Associated disease: MYOPIA 23, AUTOSOMAL RECESSIVE (OMIM:615431)
Gene: LRPAP1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LRPAP1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LRPAP1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LSS
Phenotype: Split hand (HP:0001171)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: LSS
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: LSS
Phenotype: Seizure (HP:0001250)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: LSS
Phenotype: Seizure (HP:0001250)
Associated disease: ALOPECIA-MENTAL RETARDATION SYNDROME 4 (OMIM:618840)
Gene: LSS
Phenotype: Hypotonia (HP:0001252)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: LSS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: LSS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ALOPECIA-MENTAL RETARDATION SYNDROME 4 (OMIM:618840)
Gene: LSS
Phenotype: Alopecia totalis (HP:0007418)
Associated disease: Palmoplantar keratoderma and congenital alopecia, Wallis type; PPK-CA, Wallis type; Cataract-alopecia-sclerodactyly syndrome; Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia; Autosomal recessive palmoplantar keratoderma and congenital alopecia (ORPHA:1366)
Gene: LSS
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: LSS
Phenotype: Bilateral cryptorchidism (HP:0008689)
Associated disease: ALOPECIA-MENTAL RETARDATION SYNDROME 4 (OMIM:618840)
Gene: LSS
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: LSS
Phenotype: Micropenis (HP:0000054)
Associated disease: ALOPECIA-MENTAL RETARDATION SYNDROME 4 (OMIM:618840)
Gene: LSS
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Palmoplantar keratoderma and congenital alopecia, Wallis type; PPK-CA, Wallis type; Cataract-alopecia-sclerodactyly syndrome; Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia; Autosomal recessive palmoplantar keratoderma and congenital alopecia (ORPHA:1366)
Gene: LSS
Phenotype: Hypospadias (HP:0000047)
Associated disease: ALOPECIA-MENTAL RETARDATION SYNDROME 4 (OMIM:618840)
Gene: LSS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CATARACT 44 (OMIM:616509)
Gene: LSS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOTRICHOSIS 14 (OMIM:618275)
Gene: LSS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ALOPECIA-MENTAL RETARDATION SYNDROME 4 (OMIM:618840)
Gene: LSS
Phenotype: Scoliosis (HP:0002650)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: LSS
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Palmoplantar keratoderma and congenital alopecia, Wallis type; PPK-CA, Wallis type; Cataract-alopecia-sclerodactyly syndrome; Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia; Autosomal recessive palmoplantar keratoderma and congenital alopecia (ORPHA:1366)
Gene: LSS
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: LSS
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: ALOPECIA-MENTAL RETARDATION SYNDROME 4 (OMIM:618840)
Gene: LSS
Phenotype: Abnormal skeletal morphology (HP:0011842)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: LSS
Phenotype: Congenital onset (HP:0003577)
Associated disease: CATARACT 44 (OMIM:616509)
Gene: LSS
Phenotype: Congenital onset (HP:0003577)
Associated disease: HYPOTRICHOSIS 14 (OMIM:618275)
Gene: LSS
Phenotype: Congenital onset (HP:0003577)
Associated disease: ALOPECIA-MENTAL RETARDATION SYNDROME 4 (OMIM:618840)
Gene: LSS
Phenotype: Absent axillary hair (HP:0002221)
Associated disease: HYPOTRICHOSIS 14 (OMIM:618275)
Gene: LSS
Phenotype: Sparse body hair (HP:0002231)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: LSS
Phenotype: Sparse body hair (HP:0002231)
Associated disease: Hypotrichosis simplex; Hereditary hypotrichosis simplex (ORPHA:55654)
Gene: LSS
Phenotype: Sparse body hair (HP:0002231)
Associated disease: HYPOTRICHOSIS 14 (OMIM:618275)
Gene: LSS
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: HYPOTRICHOSIS 14 (OMIM:618275)
Gene: LSS
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: LSS
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Hypotrichosis simplex; Hereditary hypotrichosis simplex (ORPHA:55654)
Gene: LSS
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: Palmoplantar keratoderma and congenital alopecia, Wallis type; PPK-CA, Wallis type; Cataract-alopecia-sclerodactyly syndrome; Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia; Autosomal recessive palmoplantar keratoderma and congenital alopecia (ORPHA:1366)
Gene: LSS
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: LSS
Phenotype: Erythroderma (HP:0001019)
Associated disease: ALOPECIA-MENTAL RETARDATION SYNDROME 4 (OMIM:618840)
Gene: LSS
Phenotype: Lack of skin elasticity (HP:0100679)
Associated disease: Palmoplantar keratoderma and congenital alopecia, Wallis type; PPK-CA, Wallis type; Cataract-alopecia-sclerodactyly syndrome; Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia; Autosomal recessive palmoplantar keratoderma and congenital alopecia (ORPHA:1366)