lunes, 30 de abril de 2018

Prenatal testing - OMIM - NCBI

Prenatal testing - OMIM - NCBI

a pregnant woman

From NIH OMIM

OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily.



2.
GSD IV, CLASSIC HEPATIC, INCLUDED
Cytogenetic locations: 3p12.2
3.
4.
5.
6.
7.
MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES, INCLUDED; CMEMS, INCLUDED
Cytogenetic locations: 11p15.5
8.
9.
HYPERPHENYLALANINEMIA, NON-PKU MILD, INCLUDED
Cytogenetic locations: 12q23.2
11.
12.
14.
15.
THROMBOPHILIA DUE TO FACTOR V LEIDEN, INCLUDED
Cytogenetic locations: 1q24.2
16.
NIEMANN-PICK DISEASE, TYPE D, INCLUDED
Cytogenetic locations: 18q11.2
17.
18.
ICHTHYOSIS, X-LINKED, COMPLICATED, INCLUDED
Cytogenetic locations: Xp22.31
19.

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