TaoMedAI/RareMedData huggingface dataset:
Gene: SERPINH1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SERPINH1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SERPINH1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Phthisis bulbi (HP:0000667)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SERPINH1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Short stature (HP:0004322)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
Gene: SERPINH1
Phenotype: Short stature (HP:0004322)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SERPINH1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SERPINH1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SERPINH1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Third trimester onset (HP:0034197)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
Gene: SERPINH1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SERPINH1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Dentinogenesis imperfecta (HP:0000703)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
Gene: SERPINH1
Phenotype: Young adult onset (HP:0011462)
Associated disease: PRETERM PREMATURE RUPTURE OF THE MEMBRANES (OMIM:610504)
Gene: SERPINH1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Fetal onset (HP:0011461)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SERPINH1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Narrow chest (HP:0000774)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
Gene: SERPINH1
Phenotype: Diaphragmatic eventration (HP:0009110)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SERPINH1
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
Gene: SERPINH1
Phenotype: Short nose (HP:0003196)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SERPINH1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SERPINH1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SERPINH1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
Gene: SERPINH1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
Gene: SERPINH1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SERPINH1
Phenotype: Thin ribs (HP:0000883)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
Gene: SERPINH1
Phenotype: Broad ribs (HP:0000885)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
Gene: SERPINH1
Phenotype: Short femur (HP:0003097)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
Gene: SERPINH1
Phenotype: Hypoplasia of the capital femoral epiphysis (HP:0003090)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SERPINH1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SERPINH1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Severe platyspondyly (HP:0004565)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SERPINH1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SERPINH1
Phenotype: Biconcave vertebral bodies (HP:0004586)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SERPINH1
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SERPINH1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SERPINH1
Phenotype: Osteopenia (HP:0000938)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SERPINH1
Phenotype: Osteopenia (HP:0000938)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SERPINH1
Phenotype: Osteopenia (HP:0000938)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
Gene: SERPINH1
Phenotype: Absent anterior chamber of the eye (HP:0008037)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SERPINH1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Malar flattening (HP:0000272)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SERPINH1
Phenotype: Malar flattening (HP:0000272)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
Gene: SERPINH1
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SERPINH1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Kyphosis (HP:0002808)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SERPINH1
Phenotype: Microcephaly (HP:0000252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SERPINH1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SERPINH1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SERPINH1
Phenotype: Genu valgum (HP:0002857)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
Gene: SERPINH1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SERPINH1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SERPINH1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SERPINH1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Flat face (HP:0012368)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SERPINH1
Phenotype: Thoracic hypoplasia (HP:0005257)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
Gene: SERPINH1
Phenotype: Exudative retinopathy (HP:0007898)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SERPINH1
Phenotype: Congenital blindness (HP:0007875)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SERPINH1
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
Gene: SERPINH1
Phenotype: Retinal calcification (HP:0007862)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SERPINH1
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
Gene: SERPINH1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Thoracic scoliosis (HP:0002943)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
Gene: SERPINH1
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
Gene: SERPINH1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SERPINH1
Phenotype: Low-set ears (HP:0000369)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SERPINH1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
Gene: SERPINH1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SERPINH1
Phenotype: High forehead (HP:0000348)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
Gene: SERPINH1
Phenotype: Micrognathia (HP:0000347)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
Gene: SERPINH1
Phenotype: Tibial bowing (HP:0002982)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SERPINH1
Phenotype: Tibial bowing (HP:0002982)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
Gene: SERPINH1
Phenotype: Micromelia (HP:0002983)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
Gene: SERPINH1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SERPINH1
Phenotype: Triangular face (HP:0000325)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
Gene: SERPINH1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SERPINH1
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SERPINH1
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
Gene: SERPINH1
Phenotype: Abnormally high-pitched voice (HP:0001620)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
Gene: SERPINH1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Pointed chin (HP:0000307)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SERPINH1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SERPINH1
Phenotype: Persistent head lag (HP:0032988)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
Gene: SERPINH1
Phenotype: Multiple rib fractures (HP:0006640)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
Gene: SERPINH1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SERPINH1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SERPINH1
Phenotype: Premature rupture of membranes (HP:0001788)
Associated disease: PRETERM PREMATURE RUPTURE OF THE MEMBRANES (OMIM:610504)
Gene: SERPINH1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SERPINH1
Phenotype: Decreased calvarial ossification (HP:0005474)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
Gene: SERPINH1
Phenotype: Cataract (HP:0000518)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SERPINH1
Phenotype: Cataract (HP:0000518)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SERPINH1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SERPINH1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
Gene: SERPINH1
Phenotype: Shallow orbits (HP:0000586)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SERPINH1
Phenotype: Shallow orbits (HP:0000586)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
Gene: SERPINH1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
Gene: SERPINH1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SERPINH1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SERPINH1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SERPINH1
Phenotype: Myopia (HP:0000545)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CBS
Phenotype: Crumpled ear (HP:0009901)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: CBS
Phenotype: Adducted thumb (HP:0001181)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: CBS
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Homocystinuria due to cystathionine beta-synthase deficiency; Cystathionine beta-synthase-deficient homocystinuria; Homocystinuria due to CBS deficiency; CBS-deficient HCU; Cystathionine beta-synthase deficiency; Classical homocystinuria (ORPHA:394)
Gene: CBS
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: CBS
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: CBS
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: CBS
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: CBS
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY (OMIM:236200)
Gene: CBS
Phenotype: Lens subluxation (HP:0001132)
Associated disease: Homocystinuria due to cystathionine beta-synthase deficiency; Cystathionine beta-synthase-deficient homocystinuria; Homocystinuria due to CBS deficiency; CBS-deficient HCU; Cystathionine beta-synthase deficiency; Classical homocystinuria (ORPHA:394)
Gene: CBS
Phenotype: Lens subluxation (HP:0001132)
Associated disease: HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY (OMIM:236200)
Gene: CBS
Phenotype: Sporadic (HP:0003745)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: CBS
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: CBS
Phenotype: Livedo reticularis (HP:0033505)
Associated disease: Homocystinuria due to cystathionine beta-synthase deficiency; Cystathionine beta-synthase-deficient homocystinuria; Homocystinuria due to CBS deficiency; CBS-deficient HCU; Cystathionine beta-synthase deficiency; Classical homocystinuria (ORPHA:394)
Gene: CBS
Phenotype: Minimal subcutaneous fat (HP:0003717)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: CBS
Phenotype: Stroke (HP:0001297)
Associated disease: HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY (OMIM:236200)
Gene: CBS
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: CBS
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: CBS
Phenotype: Motor delay (HP:0001270)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: CBS
Phenotype: Seizure (HP:0001250)
Associated disease: Homocystinuria due to cystathionine beta-synthase deficiency; Cystathionine beta-synthase-deficient homocystinuria; Homocystinuria due to CBS deficiency; CBS-deficient HCU; Cystathionine beta-synthase deficiency; Classical homocystinuria (ORPHA:394)
Gene: CBS
Phenotype: Seizure (HP:0001250)
Associated disease: HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY (OMIM:236200)
Gene: CBS
Phenotype: Hypotonia (HP:0001252)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: CBS
Phenotype: Hypotonia (HP:0001252)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: CBS
Phenotype: Ataxia (HP:0001251)
Associated disease: HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY (OMIM:236200)
Gene: CBS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Homocystinuria due to cystathionine beta-synthase deficiency; Cystathionine beta-synthase-deficient homocystinuria; Homocystinuria due to CBS deficiency; CBS-deficient HCU; Cystathionine beta-synthase deficiency; Classical homocystinuria (ORPHA:394)
Gene: CBS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY (OMIM:236200)
Gene: CBS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: CBS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: CBS
Phenotype: Dysarthria (HP:0001260)
Associated disease: HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY (OMIM:236200)
Gene: CBS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY (OMIM:236200)
Gene: CBS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: CBS
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: CBS
Phenotype: Obsessive-compulsive trait (HP:0008770)
Associated disease: Homocystinuria due to cystathionine beta-synthase deficiency; Cystathionine beta-synthase-deficient homocystinuria; Homocystinuria due to CBS deficiency; CBS-deficient HCU; Cystathionine beta-synthase deficiency; Classical homocystinuria (ORPHA:394)
Gene: CBS
Phenotype: Telangiectases of the cheeks (HP:0007421)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: CBS
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: Homocystinuria due to cystathionine beta-synthase deficiency; Cystathionine beta-synthase-deficient homocystinuria; Homocystinuria due to CBS deficiency; CBS-deficient HCU; Cystathionine beta-synthase deficiency; Classical homocystinuria (ORPHA:394)
Gene: CBS
Phenotype: Finger joint hypermobility (HP:0006094)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: CBS
Phenotype: Metacarpophalangeal joint hyperextensibility (HP:0006099)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: CBS
Phenotype: Methioninuria (HP:0032352)
Associated disease: HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY (OMIM:236200)
Gene: CBS
Phenotype: Personality disorder (HP:0012075)
Associated disease: HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY (OMIM:236200)
Gene: CBS
Phenotype: Tall stature (HP:0000098)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: CBS
Phenotype: Tall stature (HP:0000098)
Associated disease: HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY (OMIM:236200)
Gene: CBS
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY (OMIM:236200)
Gene: CBS
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: CBS
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: CBS
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY (OMIM:236200)
Gene: CBS
Phenotype: Flexion contracture (HP:0001371)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: CBS
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: CBS
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Homocystinuria due to cystathionine beta-synthase deficiency; Cystathionine beta-synthase-deficient homocystinuria; Homocystinuria due to CBS deficiency; CBS-deficient HCU; Cystathionine beta-synthase deficiency; Classical homocystinuria (ORPHA:394)
Gene: CBS
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: CBS
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: CBS
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: CBS
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)