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Sanfilippo Syndrome
Sanfilippo syndrome
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Lysosomal storage diseases
(39)
Hunter syndrome
Hurler-Scheie Syndrome
Leukodystrophy, globoid cell
Morquio syndrome
Mucolipidoses
Mucolipidoses
Mucolipidosis II
Pseudo-Hurler polydystrophy
Scheie syndrome
Sly syndrome
Alpha-mannosidosis
Aspartylgl- ucosaminuria
Batten disease
Canavan disease
Cholesteryl ester storage disease
Cystinosis
Fabry disease
Farber disease
GM1 gangliosidoses
GM2 gangliosidoses
Galactosialidosis
Gangliosidosis
Gaucher's disease
Glycogen storage disease type II
Glycoproteinosis
Lipid storage disorder
Lysosomal storage disease
Metachromatic leukodystrophy
Mucolipidosis type IV
Multiple sulfatase deficiency
Neuronal ceroid lipofuscinosis
Niemann-Pick disease, type C
Niemann–Pick disease
Pycnodysostosis
Salla disease
Sandhoff disease
Schindler disease
Sialidosis
Tay-Sachs disease
Wolman disease
more...
Autosomal recessive disorders
(9)
Shwachman syndrome
Ablepharon macrostomia syndrome
Meckel-Gruber syndrome
Scheie syndrome
Hurler-Scheie Syndrome
Hurler-Scheie Syndrome
Sly syndrome
Morquio syndrome
Leukodystrophy, globoid cell
Mucolipidoses
more...
Syndromes
(10)
Hereditary sensory and autonomic neuropathies
Fetofetal transfusion
Silver russell syndrome
Smith-Magenis syndrome
Shprintzen syndrome
Shprintzen syndrome
Robinow syndrome
Hurler-Scheie Syndrome
Sly syndrome
Hunter syndrome
Ablepharon macrostomia syndrome
more...
Rare diseases
(8)
Multiple hereditary exostoses
Popliteal pterygium syndrome
Sly syndrome
Morquio syndrome
Leukodystrophy, globoid cell
Leukodystrophy, globoid cell
Ablepharon macrostomia syndrome
Meckel-Gruber syndrome
Robinow syndrome
more...
Genetic disorders
(26)
Glutaricaciduria
Hyperostosis, cortical, congenital
Adrenoleuk- odystrophy
Galactosemias
Thrombocytopenia absent radius
Thrombocytopenia absent radius
VATER syndrome
Refractory anemia with ringed sideroblasts
Laurence Moon syndrome
Pallister-Hall syndrome
Scheie syndrome
Hurler-Scheie Syndrome
Sly syndrome
Morquio syndrome
Shwachman syndrome
Leukodystrophy, globoid cell
Hereditary sensory and autonomic neuropathies
Hunter syndrome
Pseudo-Hurler polydystrophy
Multiple hereditary exostoses
Popliteal pterygium syndrome
Ablepharon macrostomia syndrome
Mucolipidoses
Smith-Magenis syndrome
Shprintzen syndrome
Meckel-Gruber syndrome
Robinow syndrome
more...
Diseases and disorders
(58)
Serous meningitis
Skin infection
Acute biphenotypic leukemia
Lymphohistiocytosis
Maroteaux-Lamy syndrome
Maroteaux-Lamy syndrome
Reticular dysgenesis
Craniofrontonasal dysplasia
N acetyltransferase deficiency
Glossopharyngeal nerve diseases
Floating harbor syndrome
Purpura, schoenlein-henoch
Type i complex regional pain syndrome
Myopathies, structural, congenital
Enterocolitis, pseudomembranous
Physiologic nystagmus
Histiocytosis non-langerhans-cell
Lupus erythematosus, cutaneous
Polyendocr- inopathies, autoimmune
Postpoliomyelitis syndrome
Encephalitis, arbovirus
Olfaction disorders
Opitz syndrome
Intervertebral disk displacement
Rosenthal syndrome
Brachial plexus neuropathies
Leukemia
Optic neuropathy, ischemic
X-linked hypophosphatemic rickets
Severe Retardation
Subacute sclerosing leukoencephalitis
San Joaquin valley fever
Syphilitic myelopathy
Subdural hemorrhage
Staphylococcal
Ollier disease
Scheie syndrome
Hurler-Scheie Syndrome
Sly syndrome
Glutaricaciduria
Morquio syndrome
Shwachman syndrome
Leukodystrophy, globoid cell
Hyperostosis, cortical, congenital
Hereditary sensory and autonomic neuropathies
Fetofetal transfusion
Lysosomal storage diseases
Galactosemias
Thrombocytopenia absent radius
Hunter syndrome
VATER syndrome
Refractory anemia with ringed sideroblasts
Multiple hereditary exostoses
Popliteal pterygium syndrome
Ablepharon macrostomia syndrome
Mucolipidoses
Shprintzen syndrome
Pallister-Hall syndrome
Robinow syndrome
more...
EC numbers (EC 3)
N-acetylgl- ucosamine-6-sulfatase
Alpha-N-ac- etylglucosaminidase
Alpha-L iduronidase
Galactosamine-6 sulfatase
Arylsulfatase B
See also
(20)
Semivegetarian
Second cranial nerve
Single palmar crease
Scrofuloderma
Schizophrenia, disorganized
Schizophrenia, disorganized
Senile lentigines
Heparan N-sulfatase
Glycosaminoglycans
Mucopolysaccharides
Acetyl-CoA- :alpha-glucosaminide acetyltransferase
Coarse facial features
Refractory anemia with excess blasts in transformation
Sulfatase
Heparan sulfate
Denver Developmental Screening Test
D-N-acetyl- glucosamine
Scalded-skin syndrome
Stiff heart syndrome
Juvenile Myelomonocytic Leukemia (JMML)
Psychomotor retardation
more...
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