Wilson disease - OMIM - NCBI

Wilson disease - OMIM - NCBI



From NIH OMIM

OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily.

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• Search OMIM for "Wilson disease" 

1.

#235730 - MOWAT-WILSON SYNDROME; MOWS

Cytogenetic locations: 2q22.3

OMIM:

 

235730

Gene summaries Genetic tests Medical literature

Select item 2779002.

#277900 - WILSON DISEASE

Cytogenetic locations: 13q14.3

OMIM:

 

277900

Gene summaries Genetic tests Medical literature

Select item 6132873.

#613287 - CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N; CMT2N

Cytogenetic locations: 16q22.1

OMIM:

 

613287

Gene summaries Genetic tests Medical literature

Select item 2572204.

#257220 - NIEMANN-PICK DISEASE, TYPE C1; NPC1

NIEMANN-PICK DISEASE, TYPE D, INCLUDED

Cytogenetic locations: 18q11.2

OMIM:

 

257220

Gene summaries Genetic tests Medical literature

Select item 1019005.

#101900 - ACROKERATOSIS VERRUCIFORMIS; AKV

Cytogenetic locations: 12q24.11

OMIM:

 

101900

Gene summaries Genetic tests Medical literature

Select item 6132666.

#613266 - WAARDENBURG SYNDROME, TYPE 4C; WS4C

Cytogenetic locations: 22q13.1

OMIM:

 

613266

Gene summaries Genetic tests Medical literature

Select item 2692007.

%269200 - AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE II; APS2

OMIM:

 

269200

Gene summaries Genetic tests Medical literature

Select item 2617408.

#261740 - GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL

Cytogenetic locations: 7q36.1

OMIM:

 

261740

Gene summaries Genetic tests Medical literature

Select item 2116009.

#211600 - CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1

Cytogenetic locations: 18q21.31

OMIM:

 

211600

Gene summaries Genetic tests Medical literature

Select item 24962010.

%249620 - OHDO SYNDROME

OMIM:

 

249620

Gene summaries Genetic tests Medical literature

Select item 23250011.

#232500 - GLYCOGEN STORAGE DISEASE IV; GSD4

GSD IV, CLASSIC HEPATIC, INCLUDED

Cytogenetic locations: 3p12.2

OMIM:

 

232500

Gene summaries Genetic tests Medical literature

Select item 20540012.

#205400 - TANGIER DISEASE; TGD

Cytogenetic locations: 9q31.1

OMIM:

 

205400

Gene summaries Genetic tests Medical literature

Select item 10910013.

#109100 - AUTOIMMUNE DISEASE

OMIM:

 

109100

Gene summaries Genetic tests Medical literature

Select item 15220014.

+152200 - APOLIPOPROTEIN(a); LPA

LIPOPROTEIN(a), INCLUDED; Lp(a), INCLUDED

Cytogenetic locations: 6q25-q26

OMIM:

 

152200

Gene summaries Genetic tests Medical literature

Select item 17390015.

#173900 - POLYCYSTIC KIDNEY DISEASE 1 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD1

Cytogenetic locations: 16p13.3

OMIM:

 

173900

Gene summaries Genetic tests Medical literature

Select item 20988016.

#209880 - CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL; CCHS

ONDINE-HIRSCHSPRUNG DISEASE, INCLUDED; OHD, INCLUDED

Cytogenetic locations: 1pter-p36.13, 4p13, 1pter-p36.13, 20q13.32, 1pter-p36.13, 12q23.2

OMIM:

 

209880

Gene summaries Genetic tests Medical literature

Select item 30940017.

#309400 - MENKES DISEASE

Cytogenetic locations: Xq21.1

OMIM:

 

309400

Gene summaries Genetic tests Medical literature

Select item 60913618.

#609136 - PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE; PCWH

Cytogenetic locations: 22q13.1

OMIM:

 

609136

Gene summaries Genetic tests Medical literature

Select item 14262319.

#142623 - HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1; HSCR1

HIRSCHSPRUNG DISEASE, PROTECTION AGAINST, INCLUDED

Cytogenetic locations: 10q11.21

OMIM:

 

142623

Gene summaries Genetic tests Medical literature

Select item 60670220.

*606702 - PKHD1 GENE; PKHD1

Cytogenetic locations: 6p12.3-p12.2

OMIM:

 

606702

Gene summaries Genetic tests Medical literature