The way property values are displayed:
The way concept relations are shown:
The way concept relations are shown:
Mucolipidoses
Hierarchy: | ∟ ∟ ∟ ∟ ∟ ∟ Mucolipidoses 21 coordinate concepts∟ ∟ ∟ ∟ ∟ Mucolipidoses 21 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ Mucolipidoses 21 coordinate concepts∟ ∟ ∟ ∟ Mucolipidoses 21 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ Mucolipidoses 21 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ Mucolipidoses 21 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ Mucolipidoses 21 coordinate concepts∟ ∟ ∟ ∟ ∟ Mucolipidoses 21 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ Mucolipidoses 21 coordinate conceptsX |
Broader terms: | ∟ ∟ ∟ ∟ ∟ ∟ Mucolipidoses ∟ ∟ ∟ ∟ ∟ Mucolipidoses ∟ ∟ ∟ ∟ ∟ ∟ Mucolipidoses ∟ ∟ ∟ ∟ Mucolipidoses ∟ ∟ ∟ ∟ ∟ ∟ ∟ Mucolipidoses ∟ ∟ ∟ ∟ ∟ ∟ Mucolipidoses ∟ ∟ ∟ ∟ ∟ ∟ Mucolipidoses ∟ ∟ ∟ ∟ ∟ Mucolipidoses ∟ ∟ ∟ ∟ ∟ ∟ Mucolipidoses |
History note: | Lipid Metabolism, Inborn Errors (1966-1976) | Lipochondrodystrophy (1966-1976) | Lipoidosis (1966-1976) | Mucopolysaccharidosis (1974-1976)X |
historyNote*: | 2000(1977)
X |
publicMeSHNote*: | 2000
X |
Scope note: | A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. Mental retardation and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7)
X |
activeMeSHYear*: | 2007X |
dateCreated*: | 1976-05-19X |
dateEstablished*: | 1977-01-01X |
dateRevised*: | 2006-07-05X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | lktX |
recordOriginator*: | VDKX |
Type: | |
Coordinate terms: | |
URI: | |
Labels and equivalent concepts: | Mukolipidoosit (fi) XMucolipidosis Type IV (en, replaced) Myoclonus Cherry Red Spot Syndrome (en, replaced) Pseudo-Hurler Polydystrophy (en, replaced) Mucolipidosis Type III (en, replaced) Mucolipidosis Type II (en, replaced) Mucolipidosis IV (en, replaced) Mucolipidosis Type I (en, replaced) Psuedo-Hurler Disease (en, replaced) Sialidosis (en, replaced) Mucolipidosis III (en, replaced) Mucolipidosis II (en, replaced) Cherry Red Spot Myoclonus Syndrome (en, replaced) Mucolipidosis (en, replaced) Mucolipidosis I (en, replaced) Inclusion Cell Disease (en, replaced) I-Cell Disease (en, replaced) Deficiency Disease, Ganglioside Sialidase (en, replaced) Ganglioside Sialidase Deficiency Disease (en, replaced) Mucolipidosis (es) βλεννολιπίδωση (el) Mukolipidosen (de) mukolipidózy (cs) Sialidosis (es, replaced) Síndrome de Mioclonía con Manchas Rojo Cereza (es, replaced) Polidistrofia de Seudo-Hurler (es, replaced) Lipomucopolisacáridosis (es, replaced) Enfermedad de Células I (es, replaced) Enfermedad por Deficiencia de Gangliósido Sialidasa (es, replaced) Myoklonussyndrom mit kirschrotem Fleck am Augenhintergrund (de, replaced) Pseudo-Hurler-Polydystrophie (de, replaced) Mukolipidose (de, replaced) Lipomukopolysaccharidose (de, replaced) Gangliosid-Sialidase-Mangelkrankheit (de, replaced) I-Zell-Krankheit (de, replaced) Sialidose (de, replaced) Cherry-red-spot-Myoklonus-Syndrom (de, replaced) |
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