Results 111 to 120 of about 15,235 (121)

The unsolved rare genetic disease atlas? An analysis of the unexplained phenotypic descriptions in OMIM®

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2018
For years, the genetics community has estimated the number of individual rare genetic diseases to be approximately 6,000–8,000. A commonly quoted derivation of this estimate is based on the simple addition of the number of phenotypic entries with and ...
T. Hartley, T. Balci, S. Rojas, Alison J Eaton, C. Canada, D. Dyment, K. Boycott   +6 more
semanticscholar   +1 more source

A Comprehensive Analysis of Variations in Sex Characteristics Across OMIM.

American Journal of Medical Genetics. Part A
Variations in Sex Characteristics (VSC), also referred to as intersex traits or Differences of Sex Development (DSD), encompass diverse chromosomal, gonadal, and anatomical sex traits.
Leah Ragno, T. L. C. Pyle
semanticscholar   +1 more source

Frequent cutaneous manifestations of rare monogenic dental diseases: a review of OMIM data and cases from own clinical practice

Skin
In the last two decades, the elucidation of the genetic background of monogenic dental diseases has been significantly enhanced. In the Online Mendelian Inheritance in Man (OMIM) database there are 144 isolated or syndromic ones.
N. Nagy, Márta Széll
semanticscholar   +1 more source

Integrating OMIM-driven insights for advanced pharmacophore modeling

International journal of zoology and applied biosciences
The integration of genetic disorder data with computational drug discovery workflows has become increasingly important for improving target identification and ligand design.
Swathi T
semanticscholar   +1 more source

De online mendelian inheritance in man (OMIM TM) database

1998
Item does not contain ...
openaire   +2 more sources

OMIM (online Mendelian inheritance man)

, 2008

openalex   +1 more source

Searching Online Mendelian Inheritance in Man (OMIM) for Information on Genetic Loci Involved in Human Disease

, 2012
Andreas D. Baxevanis
openalex   +1 more source

OMIM: The Online Mendelian Inheritance in Man

, 2010
J. Berman
semanticscholar   +1 more source

MIM-CD, Mendelian Inheritance in Man, Version 3.1

, 1995
G. F. Pratt
semanticscholar   +1 more source

Disease-phenotype deconvolution in genetic eye diseases using Online Mendelian Inheritance in Man (OMIM) database

, 2015
Moulinath Acharya, Priyanka Pandey
openalex