TaoMedAI/RareMedData huggingface dataset:
Gene: GNPTAB
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Osteolysis (HP:0002797)
Associated disease: ML III alpha/beta; Mucolipidosis type III alpha/beta; Mucolipidosis type 3 alpha/beta; ML 3 alpha/beta (ORPHA:423461)
Gene: GNPTAB
Phenotype: Wide mouth (HP:0000154)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Limited wrist movement (HP:0006248)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: ML III alpha/beta; Mucolipidosis type III alpha/beta; Mucolipidosis type 3 alpha/beta; ML 3 alpha/beta (ORPHA:423461)
Gene: GNPTAB
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: ML III alpha/beta; Mucolipidosis type III alpha/beta; Mucolipidosis type 3 alpha/beta; ML 3 alpha/beta (ORPHA:423461)
Gene: GNPTAB
Phenotype: Increased serum beta-hexosaminidase (HP:0003333)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Increased serum beta-hexosaminidase (HP:0003333)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Hypoplasia of the odontoid process (HP:0003311)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: C1-C2 subluxation (HP:0003320)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Spondylolisthesis (HP:0003302)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Ovoid vertebral bodies (HP:0003300)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Lumbar scoliosis (HP:0004626)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Palpebral edema (HP:0100540)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: ML III alpha/beta; Mucolipidosis type III alpha/beta; Mucolipidosis type 3 alpha/beta; ML 3 alpha/beta (ORPHA:423461)
Gene: GNPTAB
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTAB
Phenotype: Pulmonic regurgitation (HP:0010444)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Mucopolysacchariduria (HP:0008155)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Mucopolysacchariduria (HP:0008155)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Oligosacchariduria (HP:0010471)
Associated disease: ML III alpha/beta; Mucolipidosis type III alpha/beta; Mucolipidosis type 3 alpha/beta; ML 3 alpha/beta (ORPHA:423461)
Gene: GNPTAB
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Thoracolumbar kyphoscoliosis (HP:0003423)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Atlantoaxial dislocation (HP:0003414)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Myelopathy (HP:0002196)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Infantile onset (HP:0003593)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Infantile onset (HP:0003593)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Respiratory failure requiring assisted ventilation (HP:0004887)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Fine hair (HP:0002213)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Increased iduronate sulfatase level (HP:0003538)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Increased iduronate sulfatase level (HP:0003538)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Brittle hair (HP:0002299)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Cavernous hemangioma (HP:0001048)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTAB
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Thickened skin (HP:0001072)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Thickened skin (HP:0001072)
Associated disease: ML III alpha/beta; Mucolipidosis type III alpha/beta; Mucolipidosis type 3 alpha/beta; ML 3 alpha/beta (ORPHA:423461)
Gene: GNPTAB
Phenotype: Thickened skin (HP:0001072)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Premature anterior fontanel closure (HP:0008491)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Lower thoracic interpediculate narrowness (HP:0008470)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTAB
Phenotype: Lumbar hemivertebrae (HP:0008439)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Bullet-shaped phalanges of the hand (HP:0009769)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTAB
Phenotype: Motor polyneuropathy (HP:0007178)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTAB
Phenotype: Progressive alveolar ridge hypertrophy (HP:0009092)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Irregular carpal bones (HP:0004236)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTAB
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTAB
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTAB
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Dry hair (HP:0011359)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: White hair (HP:0011364)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Severely reduced left ventricular ejection fraction (HP:0012666)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Abdominal wall muscle weakness (HP:0009023)
Associated disease: ML III alpha/beta; Mucolipidosis type III alpha/beta; Mucolipidosis type 3 alpha/beta; ML 3 alpha/beta (ORPHA:423461)
Gene: GNPTAB
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Abnormal long bone morphology (HP:0011314)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTAB
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Short stature (HP:0004322)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Short stature (HP:0004322)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Short stature (HP:0004322)
Associated disease: ML III alpha/beta; Mucolipidosis type III alpha/beta; Mucolipidosis type 3 alpha/beta; ML 3 alpha/beta (ORPHA:423461)
Gene: GNPTAB
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTAB
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTAB
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Short long bone (HP:0003026)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Short long bone (HP:0003026)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Childhood onset (HP:0011463)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Childhood onset (HP:0011463)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Young adult onset (HP:0011462)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Fetal onset (HP:0011461)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Narrow chest (HP:0000774)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Short ribs (HP:0000773)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Shallow acetabular fossae (HP:0003182)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTAB
Phenotype: Hypoplastic scapulae (HP:0000882)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Broad ribs (HP:0000885)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTAB
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Beaking of vertebral bodies T12-L3 (HP:0004562)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTAB
Phenotype: Abnormality of the thoracic cavity (HP:0045027)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Hip contracture (HP:0003273)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Deficiency of N-acetylglucosamine-1-phosphotransferase (HP:0003264)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Deficiency of N-acetylglucosamine-1-phosphotransferase (HP:0003264)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Stridor (HP:0010307)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Claw hand deformity (HP:0034337)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Osteopenia (HP:0000938)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Dysostosis multiplex (HP:0000943)
Associated disease: ML III alpha/beta; Mucolipidosis type III alpha/beta; Mucolipidosis type 3 alpha/beta; ML 3 alpha/beta (ORPHA:423461)
Gene: GNPTAB
Phenotype: Dysostosis multiplex (HP:0000943)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Generalized osteoporosis (HP:0040160)
Associated disease: ML III alpha/beta; Mucolipidosis type III alpha/beta; Mucolipidosis type 3 alpha/beta; ML 3 alpha/beta (ORPHA:423461)
Gene: GNPTAB
Phenotype: Sparse hair (HP:0008070)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Epicanthus (HP:0000286)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Epicanthus (HP:0000286)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Epicanthus (HP:0000286)
Associated disease: ML III alpha/beta; Mucolipidosis type III alpha/beta; Mucolipidosis type 3 alpha/beta; ML 3 alpha/beta (ORPHA:423461)
Gene: GNPTAB
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Coarse facial features (HP:0000280)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Coarse facial features (HP:0000280)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Coarse facial features (HP:0000280)
Associated disease: ML III alpha/beta; Mucolipidosis type III alpha/beta; Mucolipidosis type 3 alpha/beta; ML 3 alpha/beta (ORPHA:423461)
Gene: GNPTAB
Phenotype: Coarse facial features (HP:0000280)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Full cheeks (HP:0000293)
Associated disease: ML III alpha/beta; Mucolipidosis type III alpha/beta; Mucolipidosis type 3 alpha/beta; ML 3 alpha/beta (ORPHA:423461)
Gene: GNPTAB
Phenotype: Limited shoulder movement (HP:0006467)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Hip dislocation (HP:0002827)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Hip dislocation (HP:0002827)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Kyphosis (HP:0002808)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Kyphosis (HP:0002808)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Varus deformity of humeral neck (HP:0006362)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Microcephaly (HP:0000252)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Abnormal rib cage morphology (HP:0001547)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: ML III alpha/beta; Mucolipidosis type III alpha/beta; Mucolipidosis type 3 alpha/beta; ML 3 alpha/beta (ORPHA:423461)
Gene: GNPTAB
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTAB
Phenotype: Diastasis recti (HP:0001540)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Diastasis recti (HP:0001540)
Associated disease: ML III alpha/beta; Mucolipidosis type III alpha/beta; Mucolipidosis type 3 alpha/beta; ML 3 alpha/beta (ORPHA:423461)
Gene: GNPTAB
Phenotype: Diastasis recti (HP:0001540)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)