| 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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| 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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| D009206 |
Myocardium |
The muscle tissue of the HEART. It is composed of striated, involuntary muscle cells (MYOCYTES, CARDIAC) connected to form the contractile pump to generate blood flow. |
Muscle, Cardiac,Muscle, Heart,Cardiac Muscle,Myocardia,Cardiac Muscles,Heart Muscle,Heart Muscles,Muscles, Cardiac,Muscles, Heart |
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| D010053 |
Ovary |
The reproductive organ (GONADS) in female animals. In vertebrates, the ovary contains two functional parts: the OVARIAN FOLLICLE for the production of female germ cells (OOGENESIS); and the endocrine cells (GRANULOSA CELLS; THECA CELLS; and LUTEAL CELLS) for the production of ESTROGENS and PROGESTERONE. |
Ovaries |
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| D001921 |
Brain |
The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM. |
Encephalon |
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| D005260 |
Female |
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Females |
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| D006330 |
Heart Defects, Congenital |
Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life. |
Congenital Heart Disease,Heart Abnormalities,Abnormality, Heart,Congenital Heart Defect,Congenital Heart Defects,Defects, Congenital Heart,Heart Defect, Congenital,Heart, Malformation Of,Congenital Heart Diseases,Defect, Congenital Heart,Disease, Congenital Heart,Heart Abnormality,Heart Disease, Congenital,Malformation Of Heart,Malformation Of Hearts |
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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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| D001344 |
Autopsy |
Postmortem examination of the body. |
Autopsies,Post-Mortem Examination,Postmortem Examination,Examination, Post-Mortem,Examination, Postmortem,Examinations, Post-Mortem,Examinations, Postmortem,Post Mortem Examination,Post-Mortem Examinations,Postmortem Examinations |
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