TaoMedAI/RareMedData huggingface dataset:
Gene: IDUA
Phenotype: Abnormality of the elbow (HP:0009811)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Thickened skin (HP:0001072)
Associated disease: HURLER-SCHEIE SYNDROME (OMIM:607015)
Gene: IDUA
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDUA
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDUA
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDUA
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDUA
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDUA
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDUA
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Microdontia (HP:0000691)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDUA
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Short stature (HP:0004322)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Short stature (HP:0004322)
Associated disease: HURLER-SCHEIE SYNDROME (OMIM:607015)
Gene: IDUA
Phenotype: Short stature (HP:0004322)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Short stature (HP:0004322)
Associated disease: Mucopolysaccharidosis type IH/S; MPSIH/S; Hurler-Scheie syndrome; Mucopolysaccharidosis type 1H/S; MPS1H/S (ORPHA:93476)
Gene: IDUA
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDUA
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDUA
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: Mucopolysaccharidosis type IS; Mucopolysaccharidosis type 1S; MPS1S; MPSIS; Scheie syndrome (ORPHA:93474)
Gene: IDUA
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Abnormal CNS myelination (HP:0011400)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Depression (HP:0000716)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Childhood onset (HP:0011463)
Associated disease: HURLER-SCHEIE SYNDROME (OMIM:607015)
Gene: IDUA
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Cranial hyperostosis (HP:0004437)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Abnormal nerve conduction velocity (HP:0040129)
Associated disease: Mucopolysaccharidosis type IS; Mucopolysaccharidosis type 1S; MPS1S; MPSIS; Scheie syndrome (ORPHA:93474)
Gene: IDUA
Phenotype: Abnormal nerve conduction velocity (HP:0040129)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Abnormal nerve conduction velocity (HP:0040129)
Associated disease: Mucopolysaccharidosis type IH/S; MPSIH/S; Hurler-Scheie syndrome; Mucopolysaccharidosis type 1H/S; MPS1H/S (ORPHA:93476)
Gene: IDUA
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: Mucopolysaccharidosis type IS; Mucopolysaccharidosis type 1S; MPS1S; MPSIS; Scheie syndrome (ORPHA:93474)
Gene: IDUA
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Calvarial hyperostosis (HP:0004490)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDUA
Phenotype: Abnormal clavicle morphology (HP:0000889)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Hypertension (HP:0000822)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDUA
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Short clavicles (HP:0000894)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDUA
Phenotype: Narrow pelvis bone (HP:0003275)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Enlarged tonsils (HP:0030812)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Biconcave vertebral bodies (HP:0004586)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Dysostosis multiplex (HP:0000943)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Dysostosis multiplex (HP:0000943)
Associated disease: SCHEIE SYNDROME (OMIM:607016)
Gene: IDUA
Phenotype: Dysostosis multiplex (HP:0000943)
Associated disease: HURLER-SCHEIE SYNDROME (OMIM:607015)
Gene: IDUA
Phenotype: Abnormal diaphysis morphology (HP:0000940)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Broad face (HP:0000283)
Associated disease: SCHEIE SYNDROME (OMIM:607016)
Gene: IDUA
Phenotype: Coarse facial features (HP:0000280)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Mucopolysaccharidosis type IS; Mucopolysaccharidosis type 1S; MPS1S; MPSIS; Scheie syndrome (ORPHA:93474)
Gene: IDUA
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Mucopolysaccharidosis type IH/S; MPSIH/S; Hurler-Scheie syndrome; Mucopolysaccharidosis type 1H/S; MPS1H/S (ORPHA:93476)
Gene: IDUA
Phenotype: Full cheeks (HP:0000293)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Full cheeks (HP:0000293)
Associated disease: SCHEIE SYNDROME (OMIM:607016)
Gene: IDUA
Phenotype: Full cheeks (HP:0000293)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Macrocephaly (HP:0000256)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Kyphosis (HP:0002808)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Kyphosis (HP:0002808)
Associated disease: HURLER-SCHEIE SYNDROME (OMIM:607015)
Gene: IDUA
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Mucopolysaccharidosis type IS; Mucopolysaccharidosis type 1S; MPS1S; MPSIS; Scheie syndrome (ORPHA:93474)
Gene: IDUA
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDUA
Phenotype: Genu valgum (HP:0002857)
Associated disease: SCHEIE SYNDROME (OMIM:607016)
Gene: IDUA
Phenotype: Death in infancy (HP:0001522)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: SCHEIE SYNDROME (OMIM:607016)
Gene: IDUA
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: HURLER-SCHEIE SYNDROME (OMIM:607015)
Gene: IDUA
Phenotype: Flared iliac wing (HP:0002869)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: HURLER-SCHEIE SYNDROME (OMIM:607015)
Gene: IDUA
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDUA
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Growth delay (HP:0001510)
Associated disease: HURLER-SCHEIE SYNDROME (OMIM:607015)
Gene: IDUA
Phenotype: Growth delay (HP:0001510)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDUA
Phenotype: Rhinitis (HP:0012384)
Associated disease: Mucopolysaccharidosis type IS; Mucopolysaccharidosis type 1S; MPS1S; MPSIS; Scheie syndrome (ORPHA:93474)
Gene: IDUA
Phenotype: Rhinitis (HP:0012384)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Rhinitis (HP:0012384)
Associated disease: Mucopolysaccharidosis type IH/S; MPSIH/S; Hurler-Scheie syndrome; Mucopolysaccharidosis type 1H/S; MPS1H/S (ORPHA:93476)
Gene: IDUA
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Hearing impairment (HP:0000365)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDUA
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDUA
Phenotype: Angina pectoris (HP:0001681)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Micrognathia (HP:0000347)
Associated disease: HURLER-SCHEIE SYNDROME (OMIM:607015)
Gene: IDUA
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: SCHEIE SYNDROME (OMIM:607016)
Gene: IDUA
Phenotype: Hypertelorism (HP:0000316)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: SCHEIE SYNDROME (OMIM:607016)
Gene: IDUA
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: HURLER-SCHEIE SYNDROME (OMIM:607015)
Gene: IDUA
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: Mucopolysaccharidosis type IS; Mucopolysaccharidosis type 1S; MPS1S; MPSIS; Scheie syndrome (ORPHA:93474)
Gene: IDUA
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: Mucopolysaccharidosis type IH/S; MPSIH/S; Hurler-Scheie syndrome; Mucopolysaccharidosis type 1H/S; MPS1H/S (ORPHA:93476)
Gene: IDUA
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: HURLER-SCHEIE SYNDROME (OMIM:607015)
Gene: IDUA
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Mucopolysaccharidosis type IH/S; MPSIH/S; Hurler-Scheie syndrome; Mucopolysaccharidosis type 1H/S; MPS1H/S (ORPHA:93476)
Gene: IDUA
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDUA
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: SCHEIE SYNDROME (OMIM:607016)
Gene: IDUA
Phenotype: Corneal opacity (HP:0007957)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Corneal opacity (HP:0007957)
Associated disease: SCHEIE SYNDROME (OMIM:607016)
Gene: IDUA
Phenotype: Corneal opacity (HP:0007957)
Associated disease: HURLER-SCHEIE SYNDROME (OMIM:607015)
Gene: IDUA
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Mucopolysaccharidosis type IS; Mucopolysaccharidosis type 1S; MPS1S; MPSIS; Scheie syndrome (ORPHA:93474)
Gene: IDUA
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Mucopolysaccharidosis type IH/S; MPSIH/S; Hurler-Scheie syndrome; Mucopolysaccharidosis type 1H/S; MPS1H/S (ORPHA:93476)
Gene: IDUA
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Mucopolysaccharidosis type IS; Mucopolysaccharidosis type 1S; MPS1S; MPSIS; Scheie syndrome (ORPHA:93474)
Gene: IDUA
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Mucopolysaccharidosis type IH/S; MPSIH/S; Hurler-Scheie syndrome; Mucopolysaccharidosis type 1H/S; MPS1H/S (ORPHA:93476)
Gene: IDUA
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Endocardial fibroelastosis (HP:0001706)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Endocardial fibroelastosis (HP:0001706)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Mitral stenosis (HP:0001718)
Associated disease: SCHEIE SYNDROME (OMIM:607016)
Gene: IDUA
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: SCHEIE SYNDROME (OMIM:607016)
Gene: IDUA
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: HURLER-SCHEIE SYNDROME (OMIM:607015)
Gene: IDUA
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: HURLER-SCHEIE SYNDROME (OMIM:607015)
Gene: IDUA
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: Mucopolysaccharidosis type IS; Mucopolysaccharidosis type 1S; MPS1S; MPSIS; Scheie syndrome (ORPHA:93474)
Gene: IDUA
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Retinopathy (HP:0000488)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Anteverted nares (HP:0000463)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Short neck (HP:0000470)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Short neck (HP:0000470)
Associated disease: SCHEIE SYNDROME (OMIM:607016)
Gene: IDUA
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Short neck (HP:0000470)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Wide nose (HP:0000445)
Associated disease: SCHEIE SYNDROME (OMIM:607016)
Gene: IDUA
Phenotype: Splenomegaly (HP:0001744)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Splenomegaly (HP:0001744)
Associated disease: HURLER-SCHEIE SYNDROME (OMIM:607015)
Gene: IDUA
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Mucopolysaccharidosis type IS; Mucopolysaccharidosis type 1S; MPS1S; MPSIS; Scheie syndrome (ORPHA:93474)
Gene: IDUA
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Mucopolysaccharidosis type IH/S; MPSIH/S; Hurler-Scheie syndrome; Mucopolysaccharidosis type 1H/S; MPS1H/S (ORPHA:93476)
Gene: IDUA
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Pes cavus (HP:0001761)
Associated disease: SCHEIE SYNDROME (OMIM:607016)
Gene: IDUA
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDUA
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Glaucoma (HP:0000501)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Glaucoma (HP:0000501)
Associated disease: SCHEIE SYNDROME (OMIM:607016)
Gene: IDUA
Phenotype: Glaucoma (HP:0000501)
Associated disease: Mucopolysaccharidosis type IS; Mucopolysaccharidosis type 1S; MPS1S; MPSIS; Scheie syndrome (ORPHA:93474)
Gene: IDUA
Phenotype: Glaucoma (HP:0000501)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDUA
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: HURLER SYNDROME (OMIM:607014)