The List of genetic disorders reference article from the English Wikipedia on 24-Apr-2004
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List of genetic disorders

The following code indicates the type of mutation; the following number (or X or Y) indicates the chromosome involved.
Angelman syndromeDCP 15
Canavan disease
Charcot-Marie-Tooth disease
color blindnessP X
Cystic fibrosisP
Down syndromeC 21
haemophiliaP X
Joubert syndrome
Klinefelter syndromeC X
Neurofibromatosis
Pelizaeus-Merzbacher disease
phenylketonuriaP
Prader-Willi syndromeDC 15
Spina bifidaP 1
Tay-Sachs diseaseP
Turner syndromeC X

Note: unspecified information in the above means either that the information is currently not known, or more likely that no-one in Wikipedia has gotten around to entering it.