Poruchy metabolismu oligosacharidů (oligosacharidózy) a ostatní související poruchy

Mannosidóza I

alpha-Mannosidosis type I

OMIM: 248500

Mannosidóza II

alpha-Mannosidosis type II

OMIM: 248500

Mannosidóza u adolescentů

beta-Mannosidosis infantile

OMIM: 248510

Mannosidóza u dospělých

beta-Mannosidosis juvenile/adult

OMIM: 248510

Fukosidóza

Fucosidosis

OMIM: 230000

Mukolipidóza I (Blau, 19.4.1)

Sialidosis severe infantile (mucolipidosis I)

OMIM: 256550

Mukolipidóza I (Blau, 19.4.2)

Sialidosis mild infantile (mucolipidosis I)

OMIM: 256550

Mukolipidóza I (Blau, 19.4.3)

Sialidosis adult (mucolipidosis I)

OMIM: 256550

Galaktosialidóza (časně infantilní  forma)

Galactosialidosis (early infantile)

OMIM: 256540

Galaktosialidóza (pozdně infantilní forma)

Galactosialidosis (late infantile)

OMIM: 256540

Galaktosialidóza (u dospělých)

Galactosialidosis (juvenile/adult)

OMIM: 256540

aspartylglukosaminurie

Aspartylglucosaminouria

OMIM: 208400

Choroba Schindlerova

alpha-NAGA deficiency type I (Schindler disease)

OMIM: 104170

Choroba Kanzakiho

alpha-NAGA deficiency type II (Kanzaki disease)

OMIM: 104170

Gangliosidóza GM1 (Blau, 19.8.1)

GM1 gangliosidosis (early infantile)

OMIM: 230500

Gangliosidóza GM1 (Blau, 19.8.2)

GM1 gangliosidosis (late infantile)

OMIM: 230500

Gangliosidóza GM1 (Blau, 19.8.3)

GM1 gangliosidosis (adult)

OMIM: 230500

Gangliosidóza GM2 (Blau, 19.9.1)

GM2 gangliosidosis variant B, infantile (Tay-Sachs disease)

OMIM: 272800

Gangliosidóza GM2 (Blau, 19.9.2)

GM2 gangliosidosis variant B, late onset

OMIM: 272800

Gangliosidóza GM2 (Blau, 19.9.3)

GM2 gangliosidosis variant 0, infantile (Sandhoff disease)

OMIM: 268800

Gangliosidóza GM2 (Blau, 19.9.4)

GM2 gangliosidosis variant 0, juvenile/adult

OMIM: 268800

Gangliosidóza GM2 (Blau, 19.9.5)

GM2 gangliosidosis variant AB

OMIM: 272750

Mukolipidóza II

Mucolipidosis II (I cell disease)

OMIM: 252500

Mukolipidóza III

Mucolipidosis III

OMIM: 252500

Mukolipidóza IV

Mucolipidosis IV

OMIM: 252650

Gaucherova choroba, typ I

Gaucher disease Type 1 ("adult", chronic nonneuronopathic)

OMIM: 230800

Gaucherova choroba, typ II

Gaucher disease Type 2 (acute neuronopathic)

OMIM: 230800

Gaucherova choroba, typ III

Gaucher disease Type 3 (subacute neuronopathic)

OMIM: 230800

Gaucherova choroba (deficit SAPC)

Gaucher disease (SAPC deficiency)

OMIM: 176801

Choroba Nieman-Pickova, typ A

Niemann-Pick disease type A

OMIM: 257200

Choroba Niemann-Pickova, typ B (19.14.2)

Niemann-Pick disease type B

OMIM: 257200

Choroba Niemann-Pickova, typ B (19.14.3)

Niemann-Pick disease type B (adult)

OMIM: 257200

Choroba Niemann-Pickova, typ C (19.15.1)

Niemann-Pick disease type C (acute)

OMIM: 257220

Choroba Niemann-Pickova, typ C (19.15.2)

Niemann-Pick disease type C (classic)

OMIM: 257220

Choroba Niemann-Pickova, typ C (19.15.3)

Niemann-Pick disease type C (adult)

OMIM: 257220

Choroba Niemann-Pickova, typ C (19.15.3)

Krabbe disease infantile

OMIM: 245200

Choroba Krabbeho (Blau, 19.16.1)

Krabbe disease late onset

OMIM: 245200

Choroba Krabbeho (Blau, 19.16.2)

Polysulfatázový deficit

Multiple sulfatase deficiency

OMIM: 272200