TaoMedAI/RareMedData huggingface dataset:
Gene: GLB1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE II (OMIM:230600)
Gene: GLB1
Phenotype: Macroglossia (HP:0000158)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Wide mouth (HP:0000154)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVB (OMIM:253010)
Gene: GLB1
Phenotype: Floppy infant (HP:0008947)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVB (OMIM:253010)
Gene: GLB1
Phenotype: Thin bony cortex (HP:0002753)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE II (OMIM:230600)
Gene: GLB1
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Dysphagia (HP:0002015)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE II (OMIM:230600)
Gene: GLB1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE I (OMIM:230500)
Gene: GLB1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Hypoplasia of the odontoid process (HP:0003311)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVB (OMIM:253010)
Gene: GLB1
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVB (OMIM:253010)
Gene: GLB1
Phenotype: Cervical subluxation (HP:0003308)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVB (OMIM:253010)
Gene: GLB1
Phenotype: Ovoid vertebral bodies (HP:0003300)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVB (OMIM:253010)
Gene: GLB1
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVB (OMIM:253010)
Gene: GLB1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE II (OMIM:230600)
Gene: GLB1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLB1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Decreased beta-galactosidase activity (HP:0008166)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVB (OMIM:253010)
Gene: GLB1
Phenotype: Decreased beta-galactosidase activity (HP:0008166)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE III (OMIM:230650)
Gene: GLB1
Phenotype: Decreased beta-galactosidase activity (HP:0008166)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE I (OMIM:230500)
Gene: GLB1
Phenotype: Decreased beta-galactosidase activity (HP:0008166)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE II (OMIM:230600)
Gene: GLB1
Phenotype: Decreased beta-galactosidase activity (HP:0008166)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE II (OMIM:230600)
Gene: GLB1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE II (OMIM:230600)
Gene: GLB1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE III (OMIM:230650)
Gene: GLB1
Phenotype: Exaggerated startle response (HP:0002267)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Infantile onset (HP:0003593)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE I (OMIM:230500)
Gene: GLB1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE II (OMIM:230600)
Gene: GLB1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE III (OMIM:230650)
Gene: GLB1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE I (OMIM:230500)
Gene: GLB1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVB (OMIM:253010)
Gene: GLB1
Phenotype: Urinary glycosaminoglycan excretion (HP:0003541)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Cherry red spot of the macula (HP:0010729)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE I (OMIM:230500)
Gene: GLB1
Phenotype: Cherry red spot of the macula (HP:0010729)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE III (OMIM:230650)
Gene: GLB1
Phenotype: Cherry red spot of the macula (HP:0010729)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Abnormal placenta morphology (HP:0100767)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Severe short stature (HP:0003510)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE I (OMIM:230500)
Gene: GLB1
Phenotype: Disproportionate short-trunk short stature (HP:0003521)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVB (OMIM:253010)
Gene: GLB1
Phenotype: Decerebrate rigidity (HP:0025013)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Developmental regression (HP:0002376)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Hirsutism (HP:0001007)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Foam cells (HP:0003651)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE III (OMIM:230650)
Gene: GLB1
Phenotype: Cervical myelopathy (HP:0002318)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVB (OMIM:253010)
Gene: GLB1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLB1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Diffuse white matter abnormalities (HP:0007204)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE II (OMIM:230600)
Gene: GLB1
Phenotype: Protruding tongue (HP:0010808)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE II (OMIM:230600)
Gene: GLB1
Phenotype: Thickened skin (HP:0001072)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Angiokeratoma corporis diffusum (HP:0001071)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE I (OMIM:230500)
Gene: GLB1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Hypoplastic vertebral bodies (HP:0008479)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE I (OMIM:230500)
Gene: GLB1
Phenotype: Hypoplastic vertebral bodies (HP:0008479)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE II (OMIM:230600)
Gene: GLB1
Phenotype: Hypoplastic vertebral bodies (HP:0008479)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Anterior beaking of lumbar vertebrae (HP:0008430)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE III (OMIM:230650)
Gene: GLB1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLB1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLB1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVB (OMIM:253010)
Gene: GLB1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLB1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLB1
Phenotype: Sea-blue histiocytosis (HP:0001982)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE II (OMIM:230600)
Gene: GLB1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLB1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE II (OMIM:230600)
Gene: GLB1
Phenotype: Blindness (HP:0000618)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Vacuolated lymphocytes (HP:0001922)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE I (OMIM:230500)
Gene: GLB1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLB1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Grayish enamel (HP:0000683)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVB (OMIM:253010)
Gene: GLB1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVB (OMIM:253010)
Gene: GLB1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLB1
Phenotype: Carious teeth (HP:0000670)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVB (OMIM:253010)
Gene: GLB1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Short stature (HP:0004322)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE III (OMIM:230650)
Gene: GLB1
Phenotype: Thoracolumbar kyphosis (HP:0005619)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE II (OMIM:230600)
Gene: GLB1
Phenotype: Epiphyseal deformities of tubular bones (HP:0003053)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVB (OMIM:253010)
Gene: GLB1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLB1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLB1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Ulnar deviation of the wrist (HP:0003049)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVB (OMIM:253010)
Gene: GLB1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVB (OMIM:253010)
Gene: GLB1
Phenotype: Short long bone (HP:0003026)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE III (OMIM:230650)
Gene: GLB1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Childhood onset (HP:0011463)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE II (OMIM:230600)
Gene: GLB1
Phenotype: Childhood onset (HP:0011463)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE III (OMIM:230650)
Gene: GLB1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: T2 hypointense basal ganglia (HP:0012753)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE II (OMIM:230600)
Gene: GLB1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVB (OMIM:253010)
Gene: GLB1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE III (OMIM:230650)
Gene: GLB1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Flaring of rib cage (HP:0000904)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVB (OMIM:253010)
Gene: GLB1
Phenotype: Thickened ribs (HP:0000900)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE I (OMIM:230500)
Gene: GLB1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLB1
Phenotype: Prominent sternum (HP:0000884)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVB (OMIM:253010)
Gene: GLB1
Phenotype: Hypoplasia of the capital femoral epiphysis (HP:0003090)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVB (OMIM:253010)
Gene: GLB1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLB1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Beaking of vertebral bodies T12-L3 (HP:0004562)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Beaking of vertebral bodies (HP:0004568)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE I (OMIM:230500)
Gene: GLB1
Phenotype: Beaking of vertebral bodies (HP:0004568)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE II (OMIM:230600)
Gene: GLB1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE III (OMIM:230650)
Gene: GLB1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLB1
Phenotype: Constricted iliac wing (HP:0003277)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVB (OMIM:253010)
Gene: GLB1
Phenotype: Hypoplastic acetabulae (HP:0003274)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE III (OMIM:230650)
Gene: GLB1
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE I (OMIM:230500)
Gene: GLB1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVB (OMIM:253010)
Gene: GLB1
Phenotype: Motor regression (HP:0033044)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE II (OMIM:230600)
Gene: GLB1
Phenotype: Dysostosis multiplex (HP:0000943)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE I (OMIM:230500)
Gene: GLB1
Phenotype: Dysostosis multiplex (HP:0000943)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE II (OMIM:230600)
Gene: GLB1
Phenotype: Dysostosis multiplex (HP:0000943)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVB (OMIM:253010)
Gene: GLB1
Phenotype: Dysostosis multiplex (HP:0000943)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE II (OMIM:230600)
Gene: GLB1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVB (OMIM:253010)
Gene: GLB1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE III (OMIM:230650)
Gene: GLB1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE I (OMIM:230500)
Gene: GLB1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE III (OMIM:230650)
Gene: GLB1
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVB (OMIM:253010)
Gene: GLB1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Kyphosis (HP:0002808)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE III (OMIM:230650)
Gene: GLB1
Phenotype: Kyphosis (HP:0002808)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE I (OMIM:230500)
Gene: GLB1
Phenotype: Kyphosis (HP:0002808)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVB (OMIM:253010)
Gene: GLB1
Phenotype: Broad long bone diaphyses (HP:0006371)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE II (OMIM:230600)
Gene: GLB1
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE I (OMIM:230500)
Gene: GLB1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLB1
Phenotype: Genu valgum (HP:0002857)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVB (OMIM:253010)
Gene: GLB1
Phenotype: Death in infancy (HP:0001522)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE I (OMIM:230500)
Gene: GLB1
Phenotype: Flared iliac wing (HP:0002869)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE III (OMIM:230650)
Gene: GLB1
Phenotype: Flared iliac wing (HP:0002869)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLB1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE II (OMIM:230600)
Gene: GLB1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE I (OMIM:230500)
Gene: GLB1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLB1
Phenotype: Flat face (HP:0012368)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE II (OMIM:230600)
Gene: GLB1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLB1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVB (OMIM:253010)
Gene: GLB1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Low-set ears (HP:0000369)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Long philtrum (HP:0000343)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLB1
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVB (OMIM:253010)
Gene: GLB1
Phenotype: Spatulate ribs (HP:0012307)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE I (OMIM:230500)
Gene: GLB1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE II (OMIM:230600)
Gene: GLB1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE I (OMIM:230500)
Gene: GLB1
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE I (OMIM:230500)
Gene: GLB1
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVB (OMIM:253010)
Gene: GLB1
Phenotype: Premature birth (HP:0001622)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE II (OMIM:230600)
Gene: GLB1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE I (OMIM:230500)
Gene: GLB1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE I (OMIM:230500)
Gene: GLB1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLB1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVB (OMIM:253010)
Gene: GLB1
Phenotype: Corneal opacity (HP:0007957)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVB (OMIM:253010)