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Hunter Syndrome
Hunter syndrome
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Skin conditions resulting from errors in metabolism
Hurler syndrome
Morquio syndrome
Adrenoleuk- odystrophy
Fabry disease
Gunther disease
Gaucher disease
Syndromes
(15)
Sanfilippo syndrome
Hyperimmunoglobulin E syndrome
Horners syndrome
Alport syndrome
Sly syndrome
Sly syndrome
Androgen insensitivity syndrome
Moebius syndrome
Syndrome
Cri du chat syndrome
McLeod syndrome
Rett syndrome
Munchausen syndrome
Angelman syndrome
ME/CFS
Hurler syndrome
more...
Lysosomal storage diseases
(39)
Glycogen storage disease type iib
Lipid storage disorder
Lysosomal storage disorders
MPS II
Metachromatic leukodystrophy
Metachromatic leukodystrophy
Mucolipidoses
Mucolipidosis II
Alpha-mannosidosis
Aspartylgl- ucosaminuria
Batten disease
Canavan disease
Cholesteryl ester storage disease
Cystinosis
Fabry disease
Farber disease
GM1 gangliosidoses
GM2 gangliosidoses
Galactosialidosis
Gangliosidosis
Gaucher disease
Glycoproteinosis
Hurler syndrome
Krabbe disease
Morquio syndrome
Mucolipidosis type IV
Multiple sulfatase deficiency
Neuronal ceroid lipofuscinosis
Niemann-Pick disease, type C
Niemann–Pick disease
Pseudo-Hurler polydystrophy
Pycnodysostosis
Salla disease
Sandhoff disease
Sanfilippo syndrome
Schindler disease
Sialidosis
Sly syndrome
Tay-Sachs disease
Wolman disease
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Genetic disorders
(31)
Aicardi syndrome
Barth syndrome
MASA syndrome
X-linked sideroblastic anemia
Simpson-Go- labi-Behmel syndrome
Simpson-Go- labi-Behmel syndrome
Pyruvate dehydrogenase deficiency
Nevoid basal cell carcinoma syndrome
X-linked dominant
Becker's muscular dystrophy
Hyperprolinemia
Partial trisomy
Hurler syndrome
Sanfilippo syndrome
Hyperimmunoglobulin E syndrome
Morquio syndrome
MPS II
Adrenoleuk- odystrophy
Glycogen storage disease type iib
Alport syndrome
Sly syndrome
Androgen insensitivity syndrome
Lipid storage disorder
Cri du chat syndrome
Metachromatic leukodystrophy
Fabry disease
McLeod syndrome
Gunther disease
Rett syndrome
Gaucher disease
Angelman syndrome
Mucolipidoses
more...
Diseases and disorders
(56)
Hypercalciuria
Hypochondriacal neurosis
Hutchinson incisors
Hyperchylo- micronemia
Hypolipoproteinemia
Hypolipoproteinemia
Horizontal nystagmus
Maroteaux-Lamy syndrome
Acute biphenotypic leukemia
Reticular dysgenesis
X-linked mental retardation
Lymphohistiocytosis
Myelofibrosis
X syndrome
Joint stiffness
Mohr syndrome
CHILD syndrome
Hereditary-sensory and autonomic neuropathy type iii
Focal dermal hypoplasia
Severe Retardation
Dysostosis
Inborn error of metabolism
X-linked lymphoproliferative disease
Incontinentia pigmenti
Familial nephritis
Leukemia
Hurler syndrome
Sanfilippo syndrome
Hyperimmunoglobulin E syndrome
Horners syndrome
Morquio syndrome
MPS II
Glycogen storage disease type iib
Alport syndrome
Lysosomal storage diseases
Barth syndrome
Sly syndrome
MASA syndrome
Androgen insensitivity syndrome
Moebius syndrome
X-linked sideroblastic anemia
Lipid storage disorder
Cri du chat syndrome
Metachromatic leukodystrophy
Fabry disease
Syndromes
Pyruvate dehydrogenase deficiency
Gunther disease
Nevoid basal cell carcinoma syndrome
Becker's muscular dystrophy
Hyperprolinemia
Munchausen syndrome
Gaucher disease
Angelman syndrome
Mucolipidoses
Partial trisomy
ME/CFS
more...
Hematology
Hyperviscosity.
Bone marrow transplantation
Hypolipoproteinemia
McLeod syndrome
Gaucher disease
Leukemia
Glycosaminoglycans
(9)
Dermatan sulfate
Heparan sulfate
Mucopolysaccharide
Chondroitin sulfate
Heparin
Heparin
Heparinoid
Hyaluronan
Keratan sulfate
Restylane
more...
Inborn error of metabolism
(74)
Inborn errors of amino acid metabolism
Inborn errors of purine-pyrimidine metabolism
Lesch–Nyhan syndrome
Menkes disease
Oculocerebrorenal syndrome
Oculocerebrorenal syndrome
Ornithine transcarbamylase deficiency
2-Hydroxyglutaric aciduria
Abscess of thymus
Acute infectious thyroiditis
Adiposogenital dystrophy
Adrenalitis
Adrenocortical hyperfunction
Adrenocorticotropic hormone deficiency
Albright's hereditary osteodystrophy
Aldolase A deficiency
Amyloid degeneration
Autoimmune adrenalitis
Autoimmune thyroiditis
Biotin deficiency
De Quervain's thyroiditis
Diabetes complication
Diabetes mellitus and deafness
Diabetic amyotrophy
Endocrine bone disease
Endocrine paraneoplastic syndrome
Enolase deficiency
Essential fructosuria
Fatty-acid metabolism disorder
Finnish type amyloidosis
Glucocorticoid deficiency 1
Glycogen storage disease type 0
Glycogen storage disease type IV
Glycogen storage disease type VI
Glycogen storage disease type XI
Glycoproteinosis
Histidinemia
Hyperinsulinemia
Hyperpituitarism
Hypoestrogenism
Hypophysitis
Hypothalamic disease
Idiopathic hypoglycemia
Impaired fasting glycaemia
Juvenile diabetes mellitus
Keshan disease
MODY 1
MODY 2
MODY 3
MODY 4
MODY 5
MODY 6
Methylmalonyl-CoA mutase deficiency
Ochronosis
Parathyroiditis
Pentosuria
Permanent neonatal diabetes mellitus
Piebaldism
Pituitary ACTH hypersecretion
Pituitary disease
Postpartum thyroiditis
Pseudohypo- aldosteronism
Pseudohypo- parathyroidism
Pyruvate dehydrogenase deficiency
Sheehan's syndrome
Sphincter of Oddi dysfunction
Subacute thyroiditis
Tertiary hyperparathyroidism
Testicular disease
Thymic hypoplasia
Thyroid dyshormonogenesis
Toxic multinodular goitre
Toxic nodular goitre
Transaldolase deficiency
Vitamin poisoning
more...
Symptoms
(10)
Hypertrophic scar
Coarse facial features
Deafness
Hyperactivity
Hypertrichosis
Hypertrichosis
Macrocephaly
Mental deterioration
Skeletal deformities
Joint stiffness
Severe Retardation
more...
Signs and tests
Contracture
Hepatomegaly
Inguinal hernia
Splenomegaly
See also
(20)
Hypertrigl- yceridemia
Human artificial chromosome
Hyperparat- hyroidism, secondary
Iduronate sulfatase
Sulfatase
Sulfatase
Hyper IgM Syndrome Type 1
Enzyme replacement therapy
Idursulfase
X-linked recessive
Muenzer
X linked
Shire plc
Airway obstruction
Chromosomes
Genetic counseling
Prenatal diagnosis
Spasticity
Bob Parr
Alpha-L iduronidase
Enzyme
more...
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