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For information, get in touch with: Dott.ssa Barbara Parodi
Email: barbara.parodi@hsanmartino.it
   P. Romano, A. Manniello et al. Nucl Acids Res 2009 37:D925-D932.
DOI: doi:10.1093/nar/gkn730; PMID: 18927105

Controlled terms of pathologies

Names beginning by A

OMIM(TM), Online Mendelian Inheritance in Man, is a catalog of human genes and genetic disorders authored and edited by Dr. Victor A. McKusick and colleagues at Johns Hopkins and elsewhere. The database contains textual information, pictures, and reference information.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Pathology nameLink to OMIMNo. of cells
achondrogenesis I *200600 200600 1
acyl-CoA dehydrogenase, long-chain, deficiency *201460 201460 4
acyl-CoA dehydrogenase, medium-chain, deficiency *201450 201450 1
acyl-CoA dehydrogenase, short-chain, deficiency *201470 201470 1
adenosine deaminase *102700 102700 1
adrenal gland tumor OMIM Home 1
adrenal hyperplasia III *201910 201910 1
adrenoleukodystrophy / addison disease and cerebral sclerosis *300100 300100 7
Aicardi syndrome / corpus callosum *304050 304050 2
Alagille syndrome #118450 118450 1
Aldrich syndrome 277970 277970 1
Alexander disease *203450 203450 1
alkaptonuria *203500 203500 1
amaurotic family idiocy, juvenile type/neuronal ceroid lipofuscinosis *204200 204200 1
amaurotic family idiocy, late infantile type/NCL late infantile *204500 204500 8
amyloidosis OMIM Home 3
anencephaly *206500 206500 6
Angelman syndrome #105830 105830 2
angiokeratoma, diffuse / Fabry disease *301500 301500 5
Apert syndrome #101200 101200 1
argininosuccinicaciduria *207900 207900 2
arsa pseudodeficiency OMIM Home 5
arteriosclerosis OMIM Home 1
arthrogryposis multiplex congenita 108110 108110 2
articular hypermobility syndrome *147900 147900 2
aspartylglycosaminuria *208400 208400 3
asymptomatic galactosemia OMIM Home 1
ataxia telangiectasia *208900 208900 2
Austin *272200 272200 1
autoimmune polyendocrinopathy syndrome,type I *240300 240300 1

For information, get in touch with:
IRCCS Ospedale Policlinico San Martino
Largo Rosanna Benzi, 10 - I-16132 Genova - Italy
Dott.ssa Barbara Parodi
Email: barbara.parodi@hsanmartino.it

If you want to cite CLDB and HyperCLDB, please use the following reference:

P. Romano, A. Manniello, O. Aresu, M. Armento, M. Cesaro, B. Parodi.
Cell Line Data Base: structure and recent improvements towards molecular authentication of human cell lines.
Nucleic Acids Research 2009 37(Database issue):D925-D932.
DOI: doi:10.1093/nar/gkn730; PMID: 18927105