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'Rare Genetic Diseases'
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Rare Genetic Diseases
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Topics Related to Rare Genetic Diseases
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Diseases and disorders
(18)
Rare diseases
Skeletal dysplasia
Tay Sachs disease
Neurological disorders
Ectodermal dysplasias
Ectodermal dysplasias
Syndromes
Hypoplastic
Niemann Pick disease
Musculoskeletal disorder
Cutis laxa
Dysostosis
Fabry disease
Endocrine diseases
Cardiovascular disorders
Lipidosis
Sandhoff disease
Myotonia
Gastrointestinal disorder
more...
Rare diseases
(14)
Office of Rare Diseases
Hutchinson-Gilford syndrome
Rare cancers
Bloom syndrome
Nail patella syndrome
Nail patella syndrome
Pompe disease
Von Hippel-Lindau disease
Gaucher disease
Maple syrup urine disease
Tay Sachs disease
Niemann Pick disease
Fabry disease
Lipidosis
Sandhoff disease
more...
Congenital disorders
Genetic disorders
Congenital disease
Camptodactyly
Microcephaly
Inborn errors of metabolism
(8)
Inborn error of metabolism
Lysosomal storage disorders
Rotor syndrome
Glutaricaciduria
Glycogen storage disease
Glycogen storage disease
Pompe disease
Lipidosis
Maple syrup urine disease
more...
Autosomal recessive disorders
(17)
Mucopolysa- ccharidoses
Canavan disease
Batten disease
Hurler syndrome
Familial dysautonomia
Familial dysautonomia
Chondrodystrophy
Homocystinuria
Mucolipidoses
Tay Sachs disease
Bloom syndrome
Rotor syndrome
Niemann Pick disease
Pompe disease
Lipidosis
Gaucher disease
Maple syrup urine disease
Sandhoff disease
more...
Genodermatoses
Ichthyosis
Noonan syndrome
Hutchinson-Gilford syndrome
Ectodermal dysplasias
Bloom syndrome
Von Hippel-Lindau disease
Lipid storage disorders
(14)
Fabry disease
Farber disease
GM1 gangliosidoses
GM2 gangliosidoses
Gangliosidosis
Gangliosidosis
Gaucher disease
Krabbe disease
Multiple sulfatase deficiency
Niemann Pick disease
Niemann-Pick disease, type C
Sandhoff disease
Schindler disease
Tay Sachs disease
Wolman disease
more...
Neurological disorders
Leukodystrophies
Huntingtons Chorea
OPCA
Batten disease
Familial dysautonomia
Syndromes
Aase syndrome
Gilbert syndrome
Bloom syndrome
Hurler syndrome
Rotor syndrome
Familial dysautonomia
Noonan syndrome
Genetics
Genetic diseases
X-linked recessive
Chromosomes
Genetic test
Genetic disorders
Symptoms
Short stature
Skeletal abnormalities
Mild mental retardation
Coarse facial features
Short arms and legs
Acute flaccid paralysis
Hypotonia
Medicine
Orphanet
Skeletal disorder
Contractures
Predictive testing
Short stature
Camptodactyly
Cardiovascular disorders
Genetic disorders
(33)
X-linked dominant
Holt Oram Syndrome
Bardet Biedl Syndrome
Mitochondrial diseases
Genetic diseases
Genetic diseases
Mucopolysa- ccharidoses
Hutchinson-Gilford syndrome
Canavan disease
Tay Sachs disease
Leukodystrophies
Batten disease
Bloom syndrome
Huntingtons Chorea
Hurler syndrome
Rotor syndrome
Aase syndrome
Niemann Pick disease
Mitochondrial disorders
Nail patella syndrome
Pompe disease
Fabry disease
Gilbert syndrome
Glutaricaciduria
Chondrodystrophy
Lipidosis
Noonan syndrome
Von Hippel-Lindau disease
Homocystinuria
Gaucher disease
Maple syrup urine disease
Microcephaly
Mucolipidoses
Sandhoff disease
more...
Lysosomal storage diseases
(40)
Alpha-mannosidosis
Aspartylgl- ucosaminuria
Batten disease
Canavan disease
Cholesteryl ester storage disease
Cholesteryl ester storage disease
Cystinosis
Fabry disease
Farber disease
GM1 gangliosidoses
GM2 gangliosidoses
Galactosialidosis
Gangliosidosis
Gaucher disease
Glycoproteinosis
Hunter syndrome
Hurler syndrome
I-cell disease
Krabbe disease
Lipidosis
Lysosomal storage disorders
Metachromatic leukodystrophy
Morquio syndrome
Mucolipidoses
Mucolipidosis type IV
Mucopolysa- ccharidoses
Multiple sulfatase deficiency
Neuronal ceroid lipofuscinosis
Niemann Pick disease
Niemann-Pick disease, type C
Pompe disease
Pseudo-Hurler polydystrophy
Pycnodysostosis
Salla disease
Sandhoff disease
Sanfilippo syndrome
Schindler disease
Sialidosis
Sly syndrome
Tay Sachs disease
Wolman disease
more...
Medical condition
(43)
dercum disease
Dwarfism
Hereditary angioedema
Syndactyly
Craniofrontonasal dysplasia
Craniofrontonasal dysplasia
De barsy syndrome
Mitochondrial myopathies
Inborn error of metabolism
Skeletal dysplasia
Mucopolysa- ccharidoses
Hutchinson-Gilford syndrome
Canavan disease
Tay Sachs disease
Ectodermal dysplasias
Mild mental retardation
Batten disease
Bloom syndrome
Huntingtons Chorea
Hurler syndrome
Rotor syndrome
Familial dysautonomia
Cutis laxa
Nail patella syndrome
Dysostosis
Pompe disease
OPCA
Ichthyosis
Fabry disease
Gilbert syndrome
Bardet Biedl Syndrome
Glutaricaciduria
Chondrodystrophy
Noonan syndrome
Von Hippel-Lindau disease
Homocystinuria
Mitochondrial diseases
Gaucher disease
Maple syrup urine disease
Glycogen storage disease
Microcephaly
Mucolipidoses
Hypotonia
Sandhoff disease
more...
See also
(20)
Genetic counseling
Autosomal recessive
Genetic Alliance
National Organization for Rare Disorders
Genitourinary disorders
Genitourinary disorders
EURORDIS
Online Mendelian Inheritance in Man
Fibrous joints
Autosomal dominant
March of Dimes Birth Defects Foundation
Dental disorders
Renal disorder
Orphan drugs
Monogenic (genetics)
Enzyme replacement therapy
Mitochondrial disorders
Elaprase
Wounds and injuries
FGFR2
Primary immunodeficiency
more...
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