TaoMedAI/RareMedData huggingface dataset:
Gene: IDS
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDS
Phenotype: Short stature (HP:0004322)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE II (OMIM:309900)
Gene: IDS
Phenotype: Intestinal pseudo-obstruction (HP:0004389)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE II (OMIM:309900)
Gene: IDS
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDS
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDS
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDS
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDS
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDS
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDS
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDS
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDS
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDS
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDS
Phenotype: Childhood onset (HP:0011463)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE II (OMIM:309900)
Gene: IDS
Phenotype: Young adult onset (HP:0011462)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE II (OMIM:309900)
Gene: IDS
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDS
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDS
Phenotype: Scaphocephaly (HP:0030799)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE II (OMIM:309900)
Gene: IDS
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDS
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDS
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDS
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDS
Phenotype: Decreased iduronate sulfatase level (HP:0034203)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE II (OMIM:309900)
Gene: IDS
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDS
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDS
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDS
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE II (OMIM:309900)
Gene: IDS
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDS
Phenotype: Dysostosis multiplex (HP:0000943)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE II (OMIM:309900)
Gene: IDS
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE II (OMIM:309900)
Gene: IDS
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDS
Phenotype: Coarse facial features (HP:0000280)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE II (OMIM:309900)
Gene: IDS
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDS
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE II (OMIM:309900)
Gene: IDS
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE II (OMIM:309900)
Gene: IDS
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDS
Phenotype: Kyphosis (HP:0002808)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE II (OMIM:309900)
Gene: IDS
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE II (OMIM:309900)
Gene: IDS
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDS
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDS
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE II (OMIM:309900)
Gene: IDS
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE II (OMIM:309900)
Gene: IDS
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDS
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDS
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDS
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDS
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE II (OMIM:309900)
Gene: IDS
Phenotype: Airway obstruction (HP:0006536)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE II (OMIM:309900)
Gene: IDS
Phenotype: Hoarse voice (HP:0001609)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE II (OMIM:309900)
Gene: IDS
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDS
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE II (OMIM:309900)
Gene: IDS
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDS
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDS
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDS
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDS
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE II (OMIM:309900)
Gene: IDS
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDS
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE II (OMIM:309900)
Gene: IDS
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDS
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE II (OMIM:309900)
Gene: IDS
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDS
Phenotype: Short neck (HP:0000470)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE II (OMIM:309900)
Gene: IDS
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDS
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDS
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDS
Phenotype: Splenomegaly (HP:0001744)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE II (OMIM:309900)
Gene: IDS
Phenotype: Pes cavus (HP:0001761)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE II (OMIM:309900)
Gene: IDS
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDS
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDS
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDS
Phenotype: Ptosis (HP:0000508)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE II (OMIM:309900)
Gene: IDS
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDS
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDS
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDUA
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Mucopolysaccharidosis type IH/S; MPSIH/S; Hurler-Scheie syndrome; Mucopolysaccharidosis type 1H/S; MPS1H/S (ORPHA:93476)
Gene: IDUA
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDUA
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDUA
Phenotype: Hypotonia (HP:0001252)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SCHEIE SYNDROME (OMIM:607016)
Gene: IDUA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDUA
Phenotype: Hypoplasia of the femoral head (HP:0008802)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Mucopolysaccharidosis type IS; Mucopolysaccharidosis type 1S; MPS1S; MPSIS; Scheie syndrome (ORPHA:93474)
Gene: IDUA
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Mucopolysaccharidosis type IH/S; MPSIH/S; Hurler-Scheie syndrome; Mucopolysaccharidosis type 1H/S; MPS1H/S (ORPHA:93476)
Gene: IDUA
Phenotype: Flexion contracture (HP:0001371)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Joint stiffness (HP:0001387)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Joint stiffness (HP:0001387)
Associated disease: HURLER-SCHEIE SYNDROME (OMIM:607015)
Gene: IDUA
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Mucopolysaccharidosis type IS; Mucopolysaccharidosis type 1S; MPS1S; MPSIS; Scheie syndrome (ORPHA:93474)
Gene: IDUA
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: HURLER-SCHEIE SYNDROME (OMIM:607015)
Gene: IDUA
Phenotype: J-shaped sella turcica (HP:0002680)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDUA
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDUA
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Coxa valga (HP:0002673)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SCHEIE SYNDROME (OMIM:607016)
Gene: IDUA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HURLER-SCHEIE SYNDROME (OMIM:607015)
Gene: IDUA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDUA
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Mucopolysaccharidosis type IH/S; MPSIH/S; Hurler-Scheie syndrome; Mucopolysaccharidosis type 1H/S; MPS1H/S (ORPHA:93476)
Gene: IDUA
Phenotype: Scoliosis (HP:0002650)
Associated disease: HURLER-SCHEIE SYNDROME (OMIM:607015)
Gene: IDUA
Phenotype: Scoliosis (HP:0002650)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDUA
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDUA
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Constrictive median neuropathy (HP:0012185)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Constrictive median neuropathy (HP:0012185)
Associated disease: SCHEIE SYNDROME (OMIM:607016)
Gene: IDUA
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Macroglossia (HP:0000158)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Macroglossia (HP:0000158)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Wide mouth (HP:0000154)
Associated disease: Mucopolysaccharidosis type IS; Mucopolysaccharidosis type 1S; MPS1S; MPSIS; Scheie syndrome (ORPHA:93474)
Gene: IDUA
Phenotype: Diaphyseal undertubulation (HP:0005019)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Diminished tissue alpha-L-iduronidase activity (HP:6000910)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Tracheal stenosis (HP:0002777)
Associated disease: HURLER-SCHEIE SYNDROME (OMIM:607015)
Gene: IDUA
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Frontal bossing (HP:0002007)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Hypoplasia of the odontoid process (HP:0003311)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: C1-C2 subluxation (HP:0003320)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Spondylolisthesis (HP:0003302)
Associated disease: SCHEIE SYNDROME (OMIM:607016)
Gene: IDUA
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: HURLER-SCHEIE SYNDROME (OMIM:607015)
Gene: IDUA
Phenotype: Thenar muscle atrophy (HP:0003393)
Associated disease: HURLER-SCHEIE SYNDROME (OMIM:607015)
Gene: IDUA
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDUA
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Mucopolysacchariduria (HP:0008155)
Associated disease: Mucopolysaccharidosis type IS; Mucopolysaccharidosis type 1S; MPS1S; MPSIS; Scheie syndrome (ORPHA:93474)
Gene: IDUA
Phenotype: Mucopolysacchariduria (HP:0008155)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Abnormal vertebral morphology (HP:0003468)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Abnormal vertebral morphology (HP:0003468)
Associated disease: Mucopolysaccharidosis type IH/S; MPSIH/S; Hurler-Scheie syndrome; Mucopolysaccharidosis type 1H/S; MPS1H/S (ORPHA:93476)
Gene: IDUA
Phenotype: Spinal canal stenosis (HP:0003416)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Spinal canal stenosis (HP:0003416)
Associated disease: Mucopolysaccharidosis type IH/S; MPSIH/S; Hurler-Scheie syndrome; Mucopolysaccharidosis type 1H/S; MPS1H/S (ORPHA:93476)
Gene: IDUA
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Heparan sulfate excretion in urine (HP:0002159)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Heparan sulfate excretion in urine (HP:0002159)
Associated disease: HURLER-SCHEIE SYNDROME (OMIM:607015)
Gene: IDUA
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: HURLER-SCHEIE SYNDROME (OMIM:607015)
Gene: IDUA
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Hand pain (HP:0046505)
Associated disease: HURLER-SCHEIE SYNDROME (OMIM:607015)
Gene: IDUA
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: HURLER-SCHEIE SYNDROME (OMIM:607015)
Gene: IDUA
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Mucopolysaccharidosis type IS; Mucopolysaccharidosis type 1S; MPS1S; MPSIS; Scheie syndrome (ORPHA:93474)
Gene: IDUA
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Mucopolysaccharidosis type IH/S; MPSIH/S; Hurler-Scheie syndrome; Mucopolysaccharidosis type 1H/S; MPS1H/S (ORPHA:93476)
Gene: IDUA
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: Mucopolysaccharidosis type IH/S; MPSIH/S; Hurler-Scheie syndrome; Mucopolysaccharidosis type 1H/S; MPS1H/S (ORPHA:93476)
Gene: IDUA
Phenotype: Urinary glycosaminoglycan excretion (HP:0003541)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: HURLER-SCHEIE SYNDROME (OMIM:607015)
Gene: IDUA
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Abnormality of the tonsils (HP:0100765)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Abnormality of the tonsils (HP:0100765)
Associated disease: Mucopolysaccharidosis type IH/S; MPSIH/S; Hurler-Scheie syndrome; Mucopolysaccharidosis type 1H/S; MPS1H/S (ORPHA:93476)
Gene: IDUA
Phenotype: Hernia (HP:0100790)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Hernia (HP:0100790)
Associated disease: Mucopolysaccharidosis type IH/S; MPSIH/S; Hurler-Scheie syndrome; Mucopolysaccharidosis type 1H/S; MPS1H/S (ORPHA:93476)
Gene: IDUA
Phenotype: Hernia (HP:0100790)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Large face (HP:0100729)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Contracture of the distal interphalangeal joint of the fingers (HP:0009697)
Associated disease: HURLER-SCHEIE SYNDROME (OMIM:607015)
Gene: IDUA
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Dermatan sulfate excretion in urine (HP:0008301)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Dermatan sulfate excretion in urine (HP:0008301)
Associated disease: HURLER-SCHEIE SYNDROME (OMIM:607015)
Gene: IDUA
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Cervical cord compression (HP:0002341)
Associated disease: SCHEIE SYNDROME (OMIM:607016)
Gene: IDUA
Phenotype: Hirsutism (HP:0001007)
Associated disease: HURLER SYNDROME (OMIM:607014)
Gene: IDUA
Phenotype: Hirsutism (HP:0001007)
Associated disease: HURLER-SCHEIE SYNDROME (OMIM:607015)
Gene: IDUA
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDUA
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDUA
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Mucopolysaccharidosis type IS; Mucopolysaccharidosis type 1S; MPS1S; MPSIS; Scheie syndrome (ORPHA:93474)
Gene: IDUA
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)
Gene: IDUA
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Hurler disease; Mucopolysaccharidosis type IH; MPS1H; MPSIH; Hurler syndrome; Mucopolysaccharidosis type 1H (ORPHA:93473)