| D008059 |
Mucopolysaccharidosis I |
Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (IDURONIDASE) and characterized by progressive physical deterioration with urinary excretion of DERMATAN SULFATE and HEPARAN SULFATE. There are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler syndrome, Hurler-Scheie syndrome and Scheie syndrome (formerly mucopolysaccharidosis V). Symptoms may include DWARFISM; hepatosplenomegaly; thick, coarse facial features with low nasal bridge; corneal clouding; cardiac complications; and noisy breathing. |
Hurler's Syndrome,Hurler-Scheie Syndrome,Lipochondrodystrophy,Mucopolysaccharidosis V,Pfaundler-Hurler Syndrome,Scheie's Syndrome,Gargoylism,Gargoylism, Hurler Syndrome,Hurler Disease,Hurler Syndrome,Hurler's Disease,Mucopolysaccharidosis 1,Mucopolysaccharidosis 5,Mucopolysaccharidosis I-S,Mucopolysaccharidosis Type I,Mucopolysaccharidosis Type Ih,Mucopolysaccharidosis Type Ih S,Mucopolysaccharidosis Type Is,Scheie Syndrome,alpha-L-Iduronidase Deficiency,Disease, Hurler's,Gargoylisms,Hurler Scheie Syndrome,Hurler Syndrome Gargoylism,Lipochondrodystrophies,Mucopolysaccharidosis I S,Mucopolysaccharidosis Is,Mucopolysaccharidosis Type Ihs,Syndrome, Hurler's,Syndrome, Scheie's,Type Ih, Mucopolysaccharidosis,Type Ihs, Mucopolysaccharidosis,alpha L Iduronidase Deficiency,alpha-L-Iduronidase Deficiencies |
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| D008297 |
Male |
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Males |
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| D009083 |
Mucopolysaccharidoses |
Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency. |
Mucopolysaccharidosis |
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| D001845 |
Bone Cysts |
Benign unilocular lytic areas in the proximal end of a long bone with well defined and narrow endosteal margins. The cysts contain fluid and the cyst walls may contain some giant cells. Bone cysts usually occur in males between the ages 3-15 years. |
Ganglia, Intraosseous,Intraosseous Ganglion,Solitary Cysts,Subchondral Cysts,Ganglia, Intra-Osseous,Ganglion, Intra-Osseous,Intra-Osseous Ganglia,Intra-Osseous Ganglion,Bone Cyst,Cyst, Bone,Cyst, Solitary,Cyst, Subchondral,Cysts, Bone,Cysts, Solitary,Cysts, Subchondral,Ganglia, Intra Osseous,Ganglias, Intra-Osseous,Ganglias, Intraosseous,Ganglion, Intra Osseous,Ganglion, Intraosseous,Ganglions, Intra-Osseous,Intra Osseous Ganglia,Intra Osseous Ganglion,Intra-Osseous Ganglias,Intra-Osseous Ganglions,Intraosseous Ganglia,Intraosseous Ganglias,Intraosseous Ganglions,Solitary Cyst,Subchondral Cyst |
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| D003318 |
Corneal Opacity |
Disorder occurring in the central or peripheral area of the cornea. The usual degree of transparency becomes relatively opaque. |
Leukoma,Corneal Opacities,Leukomas,Opacities, Corneal,Opacity, Corneal |
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| D005264 |
Femoral Fractures |
Fractures of the femur. |
Femoral Fracture,Fracture, Femoral,Fractures, Femoral |
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| D005598 |
Fractures, Spontaneous |
Fractures occurring as a result of disease of a bone or from some undiscoverable cause, and not due to trauma. (Dorland, 27th ed) |
Fractures, Pathological,Fracture, Pathologic,Fracture, Pathological,Fractures, Pathologic,Pathological Fracture,Pathological Fractures,Fracture, Spontaneous,Pathologic Fracture,Pathologic Fractures,Spontaneous Fracture,Spontaneous Fractures |
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| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
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| D000328 |
Adult |
A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. |
Adults |
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| D001168 |
Arthritis |
Acute or chronic inflammation of JOINTS. |
Oligoarthritis,Polyarthritis,Arthritides,Oligoarthritides,Polyarthritides |
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