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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 P

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
Pallister Killian syndrome #601803 601803 3
Parkinson disease #168600 168600 1
paroxysmal nocturnal hemoglobinuria +311770 311770 3
partial D trisomy OMIM Home 1
Patau syndrome / trisomy 13 OMIM Home 12
phenylketonuria I *261600 261600 3
phenylketonuria II *261630 261630 2
photosensitivity OMIM Home 1
pigmented xerodermoid OMIM Home 1
poly-X syndrome OMIM Home 5
porokeratosis of Mibelli *175800 175800 1
porphiria, acute intermittent *176000 176000 1
post-traumatic osteoporosis OMIM Home 1
Prader-Willi syndrome #176270 176270 1
progeria syndrome #176670 176670 3
prolidase deficiency *170100 170100 6
propionicacidemia I *232000 232000 8
proteolipid protein, myelin *312080 312080 3
Prune Belly syndrome 264140 264140 2
pseudoxanthoma elasticum *264800 264800 25
pulmonary fibrosis, idiopathic 178500 178500 1
pycnodysostosis #265800 265800 2
pyroglutamicaciduria / 5-oxoprolinuria #266130 266130 2
pyruvate dehydrogenase def. *246900 246900 2


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