TaoMedAI/RareMedData huggingface dataset:
Gene: NAGA
Phenotype: Axonal degeneration (HP:0040078)
Associated disease: KANZAKI DISEASE (OMIM:609242)
Gene: NAGA
Phenotype: Chylothorax (HP:0010310)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NAGA
Phenotype: Dry skin (HP:0000958)
Associated disease: KANZAKI DISEASE (OMIM:609242)
Gene: NAGA
Phenotype: Petechiae (HP:0000967)
Associated disease: KANZAKI DISEASE (OMIM:609242)
Gene: NAGA
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Schindler disease type 2; NAGA deficiency type 2; Adult-onset Alpha-N-acetylgalactosaminidase deficiency; Alpha-N-acetylgalactosaminidase deficiency type 2; Kanzaki disease (ORPHA:79280)
Gene: NAGA
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: KANZAKI DISEASE (OMIM:609242)
Gene: NAGA
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Alpha-N-acetylgalactosaminidase deficiency type 1; NAGA deficiency type 1; Schindler disease type 1 (ORPHA:79279)
Gene: NAGA
Phenotype: Osteopenia (HP:0000938)
Associated disease: SCHINDLER DISEASE, TYPE I (OMIM:609241)
Gene: NAGA
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NAGA
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Schindler disease type 2; NAGA deficiency type 2; Adult-onset Alpha-N-acetylgalactosaminidase deficiency; Alpha-N-acetylgalactosaminidase deficiency type 2; Kanzaki disease (ORPHA:79280)
Gene: NAGA
Phenotype: Coarse facial features (HP:0000280)
Associated disease: KANZAKI DISEASE (OMIM:609242)
Gene: NAGA
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: Schindler disease type 2; NAGA deficiency type 2; Adult-onset Alpha-N-acetylgalactosaminidase deficiency; Alpha-N-acetylgalactosaminidase deficiency type 2; Kanzaki disease (ORPHA:79280)
Gene: NAGA
Phenotype: Kyphosis (HP:0002808)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NAGA
Phenotype: Lip telangiectasia (HP:0000214)
Associated disease: Schindler disease type 2; NAGA deficiency type 2; Adult-onset Alpha-N-acetylgalactosaminidase deficiency; Alpha-N-acetylgalactosaminidase deficiency type 2; Kanzaki disease (ORPHA:79280)
Gene: NAGA
Phenotype: Lip telangiectasia (HP:0000214)
Associated disease: KANZAKI DISEASE (OMIM:609242)
Gene: NAGA
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NAGA
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: KANZAKI DISEASE (OMIM:609242)
Gene: NAGA
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Schindler disease type 2; NAGA deficiency type 2; Adult-onset Alpha-N-acetylgalactosaminidase deficiency; Alpha-N-acetylgalactosaminidase deficiency type 2; Kanzaki disease (ORPHA:79280)
Gene: NAGA
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Alpha-N-acetylgalactosaminidase deficiency type 1; NAGA deficiency type 1; Schindler disease type 1 (ORPHA:79279)
Gene: NAGA
Phenotype: Tinnitus (HP:0000360)
Associated disease: Schindler disease type 2; NAGA deficiency type 2; Adult-onset Alpha-N-acetylgalactosaminidase deficiency; Alpha-N-acetylgalactosaminidase deficiency type 2; Kanzaki disease (ORPHA:79280)
Gene: NAGA
Phenotype: Micrognathia (HP:0000347)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NAGA
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NAGA
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NAGA
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: Schindler disease type 2; NAGA deficiency type 2; Adult-onset Alpha-N-acetylgalactosaminidase deficiency; Alpha-N-acetylgalactosaminidase deficiency type 2; Kanzaki disease (ORPHA:79280)
Gene: NAGA
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: NAGA deficiency type 3; Alpha-N-acetylgalactosaminidase deficiency type 3; Schindler disease type 3 (ORPHA:79281)
Gene: NAGA
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Alpha-N-acetylgalactosaminidase deficiency type 1; NAGA deficiency type 1; Schindler disease type 1 (ORPHA:79279)
Gene: NAGA
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NAGA
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: KANZAKI DISEASE (OMIM:609242)
Gene: NAGA
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: KANZAKI DISEASE (OMIM:609242)
Gene: NAGA
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Schindler disease type 2; NAGA deficiency type 2; Adult-onset Alpha-N-acetylgalactosaminidase deficiency; Alpha-N-acetylgalactosaminidase deficiency type 2; Kanzaki disease (ORPHA:79280)
Gene: NAGA
Phenotype: Strabismus (HP:0000486)
Associated disease: SCHINDLER DISEASE, TYPE I (OMIM:609241)
Gene: NAGA
Phenotype: Strabismus (HP:0000486)
Associated disease: NAGA deficiency type 3; Alpha-N-acetylgalactosaminidase deficiency type 3; Schindler disease type 3 (ORPHA:79281)
Gene: NAGA
Phenotype: Strabismus (HP:0000486)
Associated disease: Alpha-N-acetylgalactosaminidase deficiency type 1; NAGA deficiency type 1; Schindler disease type 1 (ORPHA:79279)
Gene: NAGA
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: Schindler disease type 2; NAGA deficiency type 2; Adult-onset Alpha-N-acetylgalactosaminidase deficiency; Alpha-N-acetylgalactosaminidase deficiency type 2; Kanzaki disease (ORPHA:79280)
Gene: NAGA
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NAGA
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NAGA
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NAGA
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NAGA
Phenotype: Late young adult onset (HP:0025710)
Associated disease: KANZAKI DISEASE (OMIM:609242)
Gene: NAGA
Phenotype: Cataract (HP:0000518)
Associated disease: NAGA deficiency type 3; Alpha-N-acetylgalactosaminidase deficiency type 3; Schindler disease type 3 (ORPHA:79281)
Gene: NAGA
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NAGA
Phenotype: Ptosis (HP:0000508)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NAGA
Phenotype: Tortuosity of conjunctival vessels (HP:0000503)
Associated disease: KANZAKI DISEASE (OMIM:609242)
Gene: NAGA
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: NAGLU
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V (OMIM:616491)
Gene: NAGLU
Phenotype: Sensory ataxia (HP:0010871)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V (OMIM:616491)
Gene: NAGLU
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NAGLU
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NAGLU
Phenotype: Seizure (HP:0001250)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIB (OMIM:252920)
Gene: NAGLU
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIB (OMIM:252920)
Gene: NAGLU
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V (OMIM:616491)
Gene: NAGLU
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NAGLU
Phenotype: Joint stiffness (HP:0001387)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIB (OMIM:252920)
Gene: NAGLU
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NAGLU
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V (OMIM:616491)
Gene: NAGLU
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NAGLU
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIB (OMIM:252920)
Gene: NAGLU
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V (OMIM:616491)
Gene: NAGLU
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NAGLU
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NAGLU
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NAGLU
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIB (OMIM:252920)
Gene: NAGLU
Phenotype: Diarrhea (HP:0002014)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIB (OMIM:252920)
Gene: NAGLU
Phenotype: Ovoid thoracolumbar vertebrae (HP:0003309)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIB (OMIM:252920)
Gene: NAGLU
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NAGLU
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Heparan sulfate excretion in urine (HP:0002159)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIB (OMIM:252920)
Gene: NAGLU
Phenotype: Paresthesia (HP:0003401)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V (OMIM:616491)
Gene: NAGLU
Phenotype: Middle age onset (HP:0003596)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V (OMIM:616491)
Gene: NAGLU
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIB (OMIM:252920)
Gene: NAGLU
Phenotype: Late onset (HP:0003584)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V (OMIM:616491)
Gene: NAGLU
Phenotype: Coarse hair (HP:0002208)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIB (OMIM:252920)
Gene: NAGLU
Phenotype: Reduced tissue alpha-N-acetylglucosaminidase activity (HP:6000360)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIB (OMIM:252920)
Gene: NAGLU
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V (OMIM:616491)
Gene: NAGLU
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIB (OMIM:252920)
Gene: NAGLU
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIB (OMIM:252920)
Gene: NAGLU
Phenotype: Progressive (HP:0003676)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V (OMIM:616491)
Gene: NAGLU
Phenotype: Hirsutism (HP:0001007)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIB (OMIM:252920)
Gene: NAGLU
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NAGLU
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V (OMIM:616491)
Gene: NAGLU
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NAGLU
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIB (OMIM:252920)
Gene: NAGLU
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NAGLU
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NAGLU
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Nystagmus (HP:0000639)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V (OMIM:616491)
Gene: NAGLU
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NAGLU
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NAGLU
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NAGLU
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NAGLU
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Synophrys (HP:0000664)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIB (OMIM:252920)
Gene: NAGLU
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NAGLU
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NAGLU
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Hyperactivity (HP:0000752)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIB (OMIM:252920)
Gene: NAGLU
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIB (OMIM:252920)
Gene: NAGLU
Phenotype: Childhood onset (HP:0011463)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIB (OMIM:252920)
Gene: NAGLU
Phenotype: Young adult onset (HP:0011462)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V (OMIM:616491)
Gene: NAGLU
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Thickened ribs (HP:0000900)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIB (OMIM:252920)
Gene: NAGLU
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NAGLU
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NAGLU
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NAGLU
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Dysostosis multiplex (HP:0000943)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIB (OMIM:252920)
Gene: NAGLU
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Coarse facial features (HP:0000280)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIB (OMIM:252920)
Gene: NAGLU
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Dense calvaria (HP:0000250)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIB (OMIM:252920)
Gene: NAGLU
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NAGLU
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NAGLU
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NAGLU
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V (OMIM:616491)
Gene: NAGLU
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIB (OMIM:252920)
Gene: NAGLU
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NAGLU
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Asymmetric septal hypertrophy (HP:0001670)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIB (OMIM:252920)
Gene: NAGLU
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NAGLU
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIB (OMIM:252920)
Gene: NAGLU
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NAGLU
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Splenomegaly (HP:0001744)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIB (OMIM:252920)
Gene: NAGLU
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NAGLU
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NAGLU
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NAGLU
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V (OMIM:616491)
Gene: NARS1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES (OMIM:619092)
Gene: NARS1
Phenotype: Syndactyly (HP:0001159)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES (OMIM:619091)
Gene: NARS1
Phenotype: Syndactyly (HP:0001159)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES (OMIM:619092)
Gene: NARS1
Phenotype: Bilateral tonic-clonic seizure with generalized onset (HP:0025190)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES (OMIM:619091)
Gene: NARS1
Phenotype: Bilateral tonic-clonic seizure with generalized onset (HP:0025190)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES (OMIM:619092)
Gene: NARS1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES (OMIM:619091)
Gene: NARS1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES (OMIM:619092)
Gene: NARS1
Phenotype: Hypertonia (HP:0001276)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES (OMIM:619091)
Gene: NARS1
Phenotype: Hypertonia (HP:0001276)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES (OMIM:619092)
Gene: NARS1
Phenotype: Ataxia (HP:0001251)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES (OMIM:619092)
Gene: NARS1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES (OMIM:619091)
Gene: NARS1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES (OMIM:619092)
Gene: NARS1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES (OMIM:619091)