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For information, get in touch with: Dott.ssa Assunta Manniello
Email: mariaassunta.manniello@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 E

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
early myoclonic encephalopathy OMIM Home 1
Edwards' syndrome / trisomy 18 601161 601161 26
Ehlers-Danlos syndrome OMIM Home 41
Ehlers-Danlos syndrome, type I #130000 130000 4
Ehlers-Danlos syndrome, type III 130020 130020 5
Ehlers-Danlos syndrome, type IV, autosomal dominant #130050 130050 7
Ehlers-Danlos syndrome, type V *305200 305200 1
Ehlers-Danlos syndrome, type VI #225400 225400 1
Ehlers-Danlos syndrome, type VII OMIM Home 1
Ehlers-Danlos syndrome, type VIII *130080 130080 1
Ellis-Van Creveld syndrome *225500 225500 1
encephalomyopaty mitocondrial OMIM Home 1
encephalopathy OMIM Home 1
Engelmann disease *131300 131300 1
epidermolysis bullo'sa OMIM Home 2
epidermolysis bullo'sa dystrophica, recessive OMIM Home 1
epilepsy OMIM Home 1
erythroblastopenia, transient 227050 227050 1
exostoses *133700 133700 1


For information, get in touch with:
IRCCS AOU San Martino IST,
c/o Centro Biotecnologie Avanzate, Torre D - Piano 2

Largo Rosanna Benzi, 10 - I-16132 Genova - Italy
Dott.ssa Assunta Manniello
Email: mariaassunta.manniello@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