TaoMedAI/RareMedData huggingface dataset:
Gene: GBA1
Phenotype: Decreased beta-glucocerebrosidase level (HP:0003656)
Associated disease: Gaucher disease type 2; Infantile cerebral Gaucher disease; Acute neuronopathic Gaucher disease (ORPHA:77260)
Gene: GBA1
Phenotype: Decreased beta-glucocerebrosidase level (HP:0003656)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Decreased beta-glucocerebrosidase level (HP:0003656)
Associated disease: Fetal Gaucher disease; Perinatal lethal Gaucher disease (ORPHA:85212)
Gene: GBA1
Phenotype: Decreased beta-glucocerebrosidase level (HP:0003656)
Associated disease: GAUCHER DISEASE, TYPE III (OMIM:231000)
Gene: GBA1
Phenotype: Decreased beta-glucocerebrosidase level (HP:0003656)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: GBA1
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GBA1
Phenotype: Everted upper lip vermilion (HP:0010803)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: GBA1
Phenotype: Fluctuations in consciousness (HP:0007159)
Associated disease: DEMENTIA, LEWY BODY (OMIM:127750)
Gene: GBA1
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: GBA1
Phenotype: Calcification of the aorta (HP:0004963)
Associated disease: GAUCHER DISEASE, TYPE IIIC (OMIM:231005)
Gene: GBA1
Phenotype: Calcification of the aorta (HP:0004963)
Associated disease: Chronic neuronopathic Gaucher disease; Gaucher disease type 3; Gaucher disease, subacute neuronopathic type; Cerebral juvenile and adult form of Gaucher disease (ORPHA:77261)
Gene: GBA1
Phenotype: Calcification of the aorta (HP:0004963)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Akinesia (HP:0002304)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GBA1
Phenotype: Akinesia (HP:0002304)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Vascular calcification (HP:0004934)
Associated disease: GAUCHER DISEASE, TYPE III (OMIM:231000)
Gene: GBA1
Phenotype: Orthostatic hypotension due to autonomic dysfunction (HP:0004926)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GBA1
Phenotype: Pinguecula (HP:0031830)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: GBA1
Phenotype: Hypersplenism (HP:0001971)
Associated disease: GAUCHER DISEASE, TYPE I (OMIM:230800)
Gene: GBA1
Phenotype: Hypersplenism (HP:0001971)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: GBA1
Phenotype: Diplopia (HP:0000651)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GBA1
Phenotype: Supranuclear ophthalmoplegia (HP:0000623)
Associated disease: GAUCHER DISEASE, TYPE IIIC (OMIM:231005)
Gene: GBA1
Phenotype: Abnormality of coagulation (HP:0001928)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: GBA1
Phenotype: Supranuclear gaze palsy (HP:0000605)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Supranuclear gaze palsy (HP:0000605)
Associated disease: Gaucher disease type 2; Infantile cerebral Gaucher disease; Acute neuronopathic Gaucher disease (ORPHA:77260)
Gene: GBA1
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Chronic neuronopathic Gaucher disease; Gaucher disease type 3; Gaucher disease, subacute neuronopathic type; Cerebral juvenile and adult form of Gaucher disease (ORPHA:77261)
Gene: GBA1
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: GAUCHER DISEASE, TYPE II (OMIM:230900)
Gene: GBA1
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Gaucher disease type 2; Infantile cerebral Gaucher disease; Acute neuronopathic Gaucher disease (ORPHA:77260)
Gene: GBA1
Phenotype: Anemia (HP:0001903)
Associated disease: Chronic neuronopathic Gaucher disease; Gaucher disease type 3; Gaucher disease, subacute neuronopathic type; Cerebral juvenile and adult form of Gaucher disease (ORPHA:77261)
Gene: GBA1
Phenotype: Anemia (HP:0001903)
Associated disease: Gaucher disease type 2; Infantile cerebral Gaucher disease; Acute neuronopathic Gaucher disease (ORPHA:77260)
Gene: GBA1
Phenotype: Anemia (HP:0001903)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: GBA1
Phenotype: Anemia (HP:0001903)
Associated disease: GAUCHER DISEASE, TYPE I (OMIM:230800)
Gene: GBA1
Phenotype: Anemia (HP:0001903)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Anemia (HP:0001903)
Associated disease: GAUCHER DISEASE, TYPE II (OMIM:230900)
Gene: GBA1
Phenotype: Anemia (HP:0001903)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Anemia (HP:0001903)
Associated disease: Fetal Gaucher disease; Perinatal lethal Gaucher disease (ORPHA:85212)
Gene: GBA1
Phenotype: Anodontia (HP:0000674)
Associated disease: Chronic neuronopathic Gaucher disease; Gaucher disease type 3; Gaucher disease, subacute neuronopathic type; Cerebral juvenile and adult form of Gaucher disease (ORPHA:77261)
Gene: GBA1
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: GAUCHER DISEASE, TYPE II (OMIM:230900)
Gene: GBA1
Phenotype: Ectropion (HP:0000656)
Associated disease: Fetal Gaucher disease; Perinatal lethal Gaucher disease (ORPHA:85212)
Gene: GBA1
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: GAUCHER DISEASE, TYPE IIIC (OMIM:231005)
Gene: GBA1
Phenotype: Decreased body weight (HP:0004325)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Decreased body weight (HP:0004325)
Associated disease: GAUCHER DISEASE, TYPE III (OMIM:231000)
Gene: GBA1
Phenotype: Short stature (HP:0004322)
Associated disease: Chronic neuronopathic Gaucher disease; Gaucher disease type 3; Gaucher disease, subacute neuronopathic type; Cerebral juvenile and adult form of Gaucher disease (ORPHA:77261)
Gene: GBA1
Phenotype: Short stature (HP:0004322)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: GBA1
Phenotype: Short stature (HP:0004322)
Associated disease: GAUCHER DISEASE, TYPE III (OMIM:231000)
Gene: GBA1
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: Fetal Gaucher disease; Perinatal lethal Gaucher disease (ORPHA:85212)
Gene: GBA1
Phenotype: Thoracolumbar kyphosis (HP:0005619)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Mitral valve calcification (HP:0004382)
Associated disease: GAUCHER DISEASE, TYPE IIIC (OMIM:231005)
Gene: GBA1
Phenotype: Mitral valve calcification (HP:0004382)
Associated disease: Chronic neuronopathic Gaucher disease; Gaucher disease type 3; Gaucher disease, subacute neuronopathic type; Cerebral juvenile and adult form of Gaucher disease (ORPHA:77261)
Gene: GBA1
Phenotype: Mitral valve calcification (HP:0004382)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Aortic valve calcification (HP:0004380)
Associated disease: Chronic neuronopathic Gaucher disease; Gaucher disease type 3; Gaucher disease, subacute neuronopathic type; Cerebral juvenile and adult form of Gaucher disease (ORPHA:77261)
Gene: GBA1
Phenotype: Aortic valve calcification (HP:0004380)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Aortic valve calcification (HP:0004380)
Associated disease: GAUCHER DISEASE, TYPE IIIC (OMIM:231005)
Gene: GBA1
Phenotype: Micrographia (HP:0031908)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: GBA1
Phenotype: Personality changes (HP:0000751)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: GBA1
Phenotype: Cough (HP:0012735)
Associated disease: GAUCHER DISEASE, TYPE II (OMIM:230900)
Gene: GBA1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Hallucinations (HP:0000738)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: GBA1
Phenotype: Irritability (HP:0000737)
Associated disease: Gaucher disease type 2; Infantile cerebral Gaucher disease; Acute neuronopathic Gaucher disease (ORPHA:77260)
Gene: GBA1
Phenotype: Low frustration tolerance (HP:0000744)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GBA1
Phenotype: Delusion (HP:0000746)
Associated disease: DEMENTIA, LEWY BODY (OMIM:127750)
Gene: GBA1
Phenotype: Apathy (HP:0000741)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Apathy (HP:0000741)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GBA1
Phenotype: Depression (HP:0000716)
Associated disease: GAUCHER DISEASE, TYPE III (OMIM:231000)
Gene: GBA1
Phenotype: Depression (HP:0000716)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: GBA1
Phenotype: Depression (HP:0000716)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GBA1
Phenotype: Depression (HP:0000716)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: GBA1
Phenotype: Agitation (HP:0000713)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GBA1
Phenotype: Dementia (HP:0000726)
Associated disease: GAUCHER DISEASE, TYPE III (OMIM:231000)
Gene: GBA1
Phenotype: Dementia (HP:0000726)
Associated disease: Chronic neuronopathic Gaucher disease; Gaucher disease type 3; Gaucher disease, subacute neuronopathic type; Cerebral juvenile and adult form of Gaucher disease (ORPHA:77261)
Gene: GBA1
Phenotype: Dementia (HP:0000726)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GBA1
Phenotype: Dementia (HP:0000726)
Associated disease: DEMENTIA, LEWY BODY (OMIM:127750)
Gene: GBA1
Phenotype: Dementia (HP:0000726)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: GBA1
Phenotype: Childhood onset (HP:0011463)
Associated disease: GAUCHER DISEASE, TYPE III (OMIM:231000)
Gene: GBA1
Phenotype: Fetal onset (HP:0011461)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Hematuria (HP:0000790)
Associated disease: Chronic neuronopathic Gaucher disease; Gaucher disease type 3; Gaucher disease, subacute neuronopathic type; Cerebral juvenile and adult form of Gaucher disease (ORPHA:77261)
Gene: GBA1
Phenotype: Hematuria (HP:0000790)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: GBA1
Phenotype: Hyposmia (HP:0004409)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GBA1
Phenotype: Spontaneous, recurrent epistaxis (HP:0004406)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Short nose (HP:0003196)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Lewy bodies (HP:0100315)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GBA1
Phenotype: Lewy bodies (HP:0100315)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: GBA1
Phenotype: Lewy bodies (HP:0100315)
Associated disease: DEMENTIA, LEWY BODY (OMIM:127750)
Gene: GBA1
Phenotype: Hypertension (HP:0000822)
Associated disease: GAUCHER DISEASE, TYPE I (OMIM:230800)
Gene: GBA1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Chronic neuronopathic Gaucher disease; Gaucher disease type 3; Gaucher disease, subacute neuronopathic type; Cerebral juvenile and adult form of Gaucher disease (ORPHA:77261)
Gene: GBA1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: GBA1
Phenotype: Double aortic arch (HP:0011590)
Associated disease: GAUCHER DISEASE, TYPE II (OMIM:230900)
Gene: GBA1
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: GBA1
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: GBA1
Phenotype: Stridor (HP:0010307)
Associated disease: GAUCHER DISEASE, TYPE II (OMIM:230900)
Gene: GBA1
Phenotype: Stridor (HP:0010307)
Associated disease: Gaucher disease type 2; Infantile cerebral Gaucher disease; Acute neuronopathic Gaucher disease (ORPHA:77260)
Gene: GBA1
Phenotype: Purpura (HP:0000979)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: GBA1
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Splenic infarction (HP:0034336)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: GBA1
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: GAUCHER DISEASE, TYPE I (OMIM:230800)
Gene: GBA1
Phenotype: Petechiae (HP:0000967)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: GBA1
Phenotype: Osteopenia (HP:0000938)
Associated disease: Chronic neuronopathic Gaucher disease; Gaucher disease type 3; Gaucher disease, subacute neuronopathic type; Cerebral juvenile and adult form of Gaucher disease (ORPHA:77261)
Gene: GBA1
Phenotype: Osteopenia (HP:0000938)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: GBA1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Fetal Gaucher disease; Perinatal lethal Gaucher disease (ORPHA:85212)
Gene: GBA1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Gaucher disease type 2; Infantile cerebral Gaucher disease; Acute neuronopathic Gaucher disease (ORPHA:77260)
Gene: GBA1
Phenotype: Retrognathia (HP:0000278)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Mask-like facies (HP:0000298)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: GBA1
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: GAUCHER DISEASE, TYPE IIIC (OMIM:231005)
Gene: GBA1
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Fetal Gaucher disease; Perinatal lethal Gaucher disease (ORPHA:85212)
Gene: GBA1
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Gaucher disease type 2; Infantile cerebral Gaucher disease; Acute neuronopathic Gaucher disease (ORPHA:77260)
Gene: GBA1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: GAUCHER DISEASE, TYPE IIIC (OMIM:231005)
Gene: GBA1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Fetal Gaucher disease; Perinatal lethal Gaucher disease (ORPHA:85212)
Gene: GBA1
Phenotype: Microcephaly (HP:0000252)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Elevated circulating CCL18 level (HP:0032640)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: GBA1
Phenotype: Splenic rupture (HP:0012223)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: GBA1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: High palate (HP:0000218)
Associated disease: Fetal Gaucher disease; Perinatal lethal Gaucher disease (ORPHA:85212)
Gene: GBA1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Fetal Gaucher disease; Perinatal lethal Gaucher disease (ORPHA:85212)
Gene: GBA1
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: GBA1
Phenotype: Death in infancy (HP:0001522)
Associated disease: Fetal Gaucher disease; Perinatal lethal Gaucher disease (ORPHA:85212)
Gene: GBA1
Phenotype: Death in infancy (HP:0001522)
Associated disease: GAUCHER DISEASE, TYPE II (OMIM:230900)
Gene: GBA1
Phenotype: Trismus (HP:0000211)
Associated disease: GAUCHER DISEASE, TYPE II (OMIM:230900)
Gene: GBA1
Phenotype: Trismus (HP:0000211)
Associated disease: Gaucher disease type 2; Infantile cerebral Gaucher disease; Acute neuronopathic Gaucher disease (ORPHA:77260)
Gene: GBA1
Phenotype: Ascites (HP:0001541)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Ascites (HP:0001541)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: GBA1
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: GAUCHER DISEASE, TYPE II (OMIM:230900)
Gene: GBA1
Phenotype: Ecchymosis (HP:0031364)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: GAUCHER DISEASE, TYPE II (OMIM:230900)
Gene: GBA1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Fetal Gaucher disease; Perinatal lethal Gaucher disease (ORPHA:85212)
Gene: GBA1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Growth delay (HP:0001510)
Associated disease: Chronic neuronopathic Gaucher disease; Gaucher disease type 3; Gaucher disease, subacute neuronopathic type; Cerebral juvenile and adult form of Gaucher disease (ORPHA:77261)
Gene: GBA1
Phenotype: Growth delay (HP:0001510)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: GBA1
Phenotype: Growth delay (HP:0001510)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Horizontal supranuclear gaze palsy (HP:0007817)
Associated disease: GAUCHER DISEASE, TYPE III (OMIM:231000)
Gene: GBA1
Phenotype: Fatigue (HP:0012378)
Associated disease: Chronic neuronopathic Gaucher disease; Gaucher disease type 3; Gaucher disease, subacute neuronopathic type; Cerebral juvenile and adult form of Gaucher disease (ORPHA:77261)
Gene: GBA1
Phenotype: Thoracic hypoplasia (HP:0005257)
Associated disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Gene: GBA1
Phenotype: Biliary tract obstruction (HP:0005230)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: GBA1
Phenotype: Slowed horizontal saccades (HP:0007885)
Associated disease: GAUCHER DISEASE, TYPE IIIC (OMIM:231005)
Gene: GBA1
Phenotype: Slowed horizontal saccades (HP:0007885)
Associated disease: Chronic neuronopathic Gaucher disease; Gaucher disease type 3; Gaucher disease, subacute neuronopathic type; Cerebral juvenile and adult form of Gaucher disease (ORPHA:77261)
Gene: GBA1
Phenotype: Abnormal pulmonary interstitial morphology (HP:0006530)
Associated disease: GAUCHER DISEASE, TYPE I (OMIM:230800)
Gene: GBA1
Phenotype: Abnormal pulmonary interstitial morphology (HP:0006530)
Associated disease: Cardiovascular Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Gene: GBA1
Phenotype: Abnormal pulmonary interstitial morphology (HP:0006530)
Associated disease: Chronic neuronopathic Gaucher disease; Gaucher disease type 3; Gaucher disease, subacute neuronopathic type; Cerebral juvenile and adult form of Gaucher disease (ORPHA:77261)
Gene: GBA1
Phenotype: Abnormal pulmonary interstitial morphology (HP:0006530)
Associated disease: Gaucher disease type 2; Infantile cerebral Gaucher disease; Acute neuronopathic Gaucher disease (ORPHA:77260)