TaoMedAI/RareMedData huggingface dataset:
Gene: PLOD2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Phthisis bulbi (HP:0000667)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLOD2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Short stature (HP:0004322)
Associated disease: Osteogenesis imperfecta-congenital joint contractures syndrome; Bruck syndrome (ORPHA:2771)
Gene: PLOD2
Phenotype: Short stature (HP:0004322)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLOD2
Phenotype: Short stature (HP:0004322)
Associated disease: BRUCK SYNDROME 2 (OMIM:609220)
Gene: PLOD2
Phenotype: Hydroxyprolinuria (HP:0003080)
Associated disease: BRUCK SYNDROME 2 (OMIM:609220)
Gene: PLOD2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLOD2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: BRUCK SYNDROME 2 (OMIM:609220)
Gene: PLOD2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Fetal onset (HP:0011461)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Diaphragmatic eventration (HP:0009110)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD2
Phenotype: Short nose (HP:0003196)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: BRUCK SYNDROME 2 (OMIM:609220)
Gene: PLOD2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLOD2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: Osteogenesis imperfecta-congenital joint contractures syndrome; Bruck syndrome (ORPHA:2771)
Gene: PLOD2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD2
Phenotype: Hypoplasia of the capital femoral epiphysis (HP:0003090)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Severe platyspondyly (HP:0004565)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLOD2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD2
Phenotype: Biconcave vertebral bodies (HP:0004586)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLOD2
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Osteoporosis (HP:0000939)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLOD2
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Osteogenesis imperfecta-congenital joint contractures syndrome; Bruck syndrome (ORPHA:2771)
Gene: PLOD2
Phenotype: Osteopenia (HP:0000938)
Associated disease: BRUCK SYNDROME 2 (OMIM:609220)
Gene: PLOD2
Phenotype: Osteopenia (HP:0000938)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLOD2
Phenotype: Osteopenia (HP:0000938)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD2
Phenotype: Absent anterior chamber of the eye (HP:0008037)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLOD2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Malar flattening (HP:0000272)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD2
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLOD2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Kyphosis (HP:0002808)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLOD2
Phenotype: Kyphosis (HP:0002808)
Associated disease: Osteogenesis imperfecta-congenital joint contractures syndrome; Bruck syndrome (ORPHA:2771)
Gene: PLOD2
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Osteogenesis imperfecta-congenital joint contractures syndrome; Bruck syndrome (ORPHA:2771)
Gene: PLOD2
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: BRUCK SYNDROME 2 (OMIM:609220)
Gene: PLOD2
Phenotype: Microcephaly (HP:0000252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLOD2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLOD2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Flat face (HP:0012368)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD2
Phenotype: Exudative retinopathy (HP:0007898)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLOD2
Phenotype: Congenital blindness (HP:0007875)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLOD2
Phenotype: Retinal calcification (HP:0007862)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLOD2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Osteogenesis imperfecta-congenital joint contractures syndrome; Bruck syndrome (ORPHA:2771)
Gene: PLOD2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD2
Phenotype: Low-set ears (HP:0000369)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD2
Phenotype: Tibial bowing (HP:0002982)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLOD2
Phenotype: Femoral bowing (HP:0002980)
Associated disease: BRUCK SYNDROME 2 (OMIM:609220)
Gene: PLOD2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: BRUCK SYNDROME 2 (OMIM:609220)
Gene: PLOD2
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD2
Phenotype: Triangular face (HP:0000325)
Associated disease: Osteogenesis imperfecta-congenital joint contractures syndrome; Bruck syndrome (ORPHA:2771)
Gene: PLOD2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLOD2
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLOD2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Pointed chin (HP:0000307)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: BRUCK SYNDROME 2 (OMIM:609220)
Gene: PLOD2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Osteogenesis imperfecta-congenital joint contractures syndrome; Bruck syndrome (ORPHA:2771)
Gene: PLOD2
Phenotype: Cataract (HP:0000518)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLOD2
Phenotype: Cataract (HP:0000518)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Shallow orbits (HP:0000586)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLOD2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD2
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD2
Phenotype: Myopia (HP:0000545)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLP1
Phenotype: Progressive spastic quadriplegia (HP:0002478)
Associated disease: Null syndrome; Pelizaeus-Merzbacher disease, null syndrome; PLP1 null syndrome (ORPHA:280234)
Gene: PLP1
Phenotype: Progressive spastic quadriplegia (HP:0002478)
Associated disease: PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Gene: PLP1
Phenotype: Generalized dystonia (HP:0007325)
Associated disease: PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Gene: PLP1
Phenotype: Abnormality of the lower urinary tract (HP:0010936)
Associated disease: Pelizaeus-Merzbacher disease in female carriers (ORPHA:280229)
Gene: PLP1
Phenotype: Cerebral dysmyelination (HP:0007266)
Associated disease: PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Gene: PLP1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Classic PMD; Pelizaeus-Merzbacher disease, classic form (ORPHA:280219)
Gene: PLP1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Gene: PLP1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Connatal PMD; Severe PMD; Pelizaeus-Merzbacher disease type II; Pelizaeus-Merzbacher disease, connatal form (ORPHA:280210)
Gene: PLP1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Transitional PMD; Pelizaeus-Merzbacher disease, transitional form (ORPHA:280224)
Gene: PLP1
Phenotype: Lower limb amyotrophy (HP:0007210)
Associated disease: Connatal PMD; Severe PMD; Pelizaeus-Merzbacher disease type II; Pelizaeus-Merzbacher disease, connatal form (ORPHA:280210)
Gene: PLP1
Phenotype: Poor head control (HP:0002421)
Associated disease: Connatal PMD; Severe PMD; Pelizaeus-Merzbacher disease type II; Pelizaeus-Merzbacher disease, connatal form (ORPHA:280210)
Gene: PLP1
Phenotype: Poor head control (HP:0002421)
Associated disease: Classic PMD; Pelizaeus-Merzbacher disease, classic form (ORPHA:280219)
Gene: PLP1
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Pelizaeus-Merzbacher disease in female carriers (ORPHA:280229)
Gene: PLP1
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Pelizaeus-Merzbacher disease in female carriers (ORPHA:280229)
Gene: PLP1
Phenotype: Mental deterioration (HP:0001268)
Associated disease: PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Gene: PLP1
Phenotype: Head titubation (HP:0002599)
Associated disease: PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Gene: PLP1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Connatal PMD; Severe PMD; Pelizaeus-Merzbacher disease type II; Pelizaeus-Merzbacher disease, connatal form (ORPHA:280210)
Gene: PLP1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Classic PMD; Pelizaeus-Merzbacher disease, classic form (ORPHA:280219)
Gene: PLP1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Null syndrome; Pelizaeus-Merzbacher disease, null syndrome; PLP1 null syndrome (ORPHA:280234)
Gene: PLP1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Pelizaeus-Merzbacher disease in female carriers (ORPHA:280229)
Gene: PLP1
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: Transitional PMD; Pelizaeus-Merzbacher disease, transitional form (ORPHA:280224)
Gene: PLP1
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: Classic PMD; Pelizaeus-Merzbacher disease, classic form (ORPHA:280219)
Gene: PLP1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Classic PMD; Pelizaeus-Merzbacher disease, classic form (ORPHA:280219)
Gene: PLP1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: SPASTIC PARAPLEGIA 2, X-LINKED (OMIM:312920)
Gene: PLP1
Phenotype: Seizure (HP:0001250)
Associated disease: PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Gene: PLP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Connatal PMD; Severe PMD; Pelizaeus-Merzbacher disease type II; Pelizaeus-Merzbacher disease, connatal form (ORPHA:280210)
Gene: PLP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Classic PMD; Pelizaeus-Merzbacher disease, classic form (ORPHA:280219)
Gene: PLP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Pelizaeus-Merzbacher disease in female carriers (ORPHA:280229)
Gene: PLP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Gene: PLP1
Phenotype: Ataxia (HP:0001251)
Associated disease: Spastic gait type 2; SPG2; Spastic paraparesis type 2; Spastic paraplegia type 2; X-linked spastic paraplegia type 2 (ORPHA:99015)
Gene: PLP1
Phenotype: Ataxia (HP:0001251)
Associated disease: PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Gene: PLP1
Phenotype: Ataxia (HP:0001251)
Associated disease: Connatal PMD; Severe PMD; Pelizaeus-Merzbacher disease type II; Pelizaeus-Merzbacher disease, connatal form (ORPHA:280210)
Gene: PLP1
Phenotype: Ataxia (HP:0001251)
Associated disease: Classic PMD; Pelizaeus-Merzbacher disease, classic form (ORPHA:280219)
Gene: PLP1
Phenotype: Ataxia (HP:0001251)
Associated disease: Null syndrome; Pelizaeus-Merzbacher disease, null syndrome; PLP1 null syndrome (ORPHA:280234)
Gene: PLP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Spastic gait type 2; SPG2; Spastic paraparesis type 2; Spastic paraplegia type 2; X-linked spastic paraplegia type 2 (ORPHA:99015)
Gene: PLP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Gene: PLP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPASTIC PARAPLEGIA 2, X-LINKED (OMIM:312920)
Gene: PLP1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Gene: PLP1
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Gene: PLP1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Spastic gait type 2; SPG2; Spastic paraparesis type 2; Spastic paraplegia type 2; X-linked spastic paraplegia type 2 (ORPHA:99015)
Gene: PLP1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Connatal PMD; Severe PMD; Pelizaeus-Merzbacher disease type II; Pelizaeus-Merzbacher disease, connatal form (ORPHA:280210)
Gene: PLP1
Phenotype: Dysarthria (HP:0001260)
Associated disease: PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Gene: PLP1
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPASTIC PARAPLEGIA 2, X-LINKED (OMIM:312920)
Gene: PLP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Classic PMD; Pelizaeus-Merzbacher disease, classic form (ORPHA:280219)
Gene: PLP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Gene: PLP1
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Gene: PLP1
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 2, X-LINKED (OMIM:312920)
Gene: PLP1
Phenotype: Spasticity (HP:0001257)
Associated disease: Spastic gait type 2; SPG2; Spastic paraparesis type 2; Spastic paraplegia type 2; X-linked spastic paraplegia type 2 (ORPHA:99015)
Gene: PLP1
Phenotype: Spasticity (HP:0001257)
Associated disease: Classic PMD; Pelizaeus-Merzbacher disease, classic form (ORPHA:280219)
Gene: PLP1
Phenotype: Nevus flammeus of the forehead (HP:0007413)
Associated disease: Pelizaeus-Merzbacher disease in female carriers (ORPHA:280229)
Gene: PLP1
Phenotype: Abnormality of somatosensory evoked potentials (HP:0007377)
Associated disease: Classic PMD; Pelizaeus-Merzbacher disease, classic form (ORPHA:280219)
Gene: PLP1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: SPASTIC PARAPLEGIA 2, X-LINKED (OMIM:312920)
Gene: PLP1
Phenotype: Inability to walk (HP:0002540)
Associated disease: Connatal PMD; Severe PMD; Pelizaeus-Merzbacher disease type II; Pelizaeus-Merzbacher disease, connatal form (ORPHA:280210)
Gene: PLP1
Phenotype: Inability to walk (HP:0002540)
Associated disease: Null syndrome; Pelizaeus-Merzbacher disease, null syndrome; PLP1 null syndrome (ORPHA:280234)
Gene: PLP1
Phenotype: Inability to walk (HP:0002540)
Associated disease: Pelizaeus-Merzbacher disease in female carriers (ORPHA:280229)
Gene: PLP1
Phenotype: Inability to walk (HP:0002540)
Associated disease: PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Gene: PLP1
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: SPASTIC PARAPLEGIA 2, X-LINKED (OMIM:312920)
Gene: PLP1
Phenotype: Spinocerebellar tract degeneration (HP:0002503)
Associated disease: SPASTIC PARAPLEGIA 2, X-LINKED (OMIM:312920)
Gene: PLP1
Phenotype: Pendular nystagmus (HP:0012043)
Associated disease: Connatal PMD; Severe PMD; Pelizaeus-Merzbacher disease type II; Pelizaeus-Merzbacher disease, connatal form (ORPHA:280210)
Gene: PLP1
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Spastic gait type 2; SPG2; Spastic paraparesis type 2; Spastic paraplegia type 2; X-linked spastic paraplegia type 2 (ORPHA:99015)
Gene: PLP1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: SPASTIC PARAPLEGIA 2, X-LINKED (OMIM:312920)
Gene: PLP1
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: Classic PMD; Pelizaeus-Merzbacher disease, classic form (ORPHA:280219)
Gene: PLP1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Spastic gait type 2; SPG2; Spastic paraparesis type 2; Spastic paraplegia type 2; X-linked spastic paraplegia type 2 (ORPHA:99015)
Gene: PLP1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Pelizaeus-Merzbacher disease in female carriers (ORPHA:280229)
Gene: PLP1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC PARAPLEGIA 2, X-LINKED (OMIM:312920)
Gene: PLP1
Phenotype: Dystonia (HP:0001332)
Associated disease: Classic PMD; Pelizaeus-Merzbacher disease, classic form (ORPHA:280219)
Gene: PLP1
Phenotype: Dystonia (HP:0001332)
Associated disease: PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Gene: PLP1
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Gene: PLP1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Spastic gait type 2; SPG2; Spastic paraparesis type 2; Spastic paraplegia type 2; X-linked spastic paraplegia type 2 (ORPHA:99015)
Gene: PLP1
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: Pelizaeus-Merzbacher disease in female carriers (ORPHA:280229)
Gene: PLP1
Phenotype: Absent speech (HP:0001344)
Associated disease: Connatal PMD; Severe PMD; Pelizaeus-Merzbacher disease type II; Pelizaeus-Merzbacher disease, connatal form (ORPHA:280210)