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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 D

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
D. Becker syndrome OMIM Home 2
Davidson disease *251850 251850 1
def. PDH complex thiamine responsive *208800 208800 1
diastrophic dysplasia *222600 222600 1
dibasicaminoaciduria II *222700 222700 4
DiGeorge syndrome *188400 188400 1
dimorphism OMIM Home 1
Down syndrome, mosaic OMIM Home 20
Dubowitz syndrome *223370 223370 1
Dupuytren contracture *126900 126900 11
dwarfism thanatophoric OMIM Home 2
dyschromatosis symmetrica hereditaria 127400 127400 4
dyskeratosis OMIM Home 1
Dyskeratosis congenita *305000 305000 1
dystonia musculorum deformans 2 *224500 224500 2
dystrophy congenital progressive *253800 253800 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