OMIM


Also found in: Medical.
AcronymDefinition
OMIMOnline Mendelian Inheritance in Man
References in periodicals archive ?
Online Mendelian Inheritance in Man, OMIM [Internet].
Noonan syndrome (NS, OMIM 163950) is an autosomal dominant multisystem disorder characterized by a wide phenotypic spectrum including distinctive facial dysmorphism, postnatal growth retardation, short stature, ectodermal and skeletal defects, congenital heart anomalies, renal anomalies, lymphatic malformations, bleeding difficulties and variable cognitive deficits [8-10].
2] Nonstandard abbreviations: FXS, fragile Xsyndrome; OMIM, Online Mendelian Inheritance in Man; UTR, untranslated region; SC, StairCase; STD, Shifted Transversal Design; NGS, next-generation sequencing; NBS, newborn screening.
gene, mRNA, protein, molecule, chemical, drug, and disease) in a particular context from biomedical literature databases such as OMIM [34] and PubMed [63].
Campomelic dysplasia (CD, OMIM #114290) which is inherited autosomal dominantly was described by Caffey (1) in1947 for the first time in a subject who showed angular bending in the extremities, dimples on the skin on these bones and shortness in the long bones.
Goldenhar syndrome7'8 % 164210###Named in OMIM as "Hemifacial microsomia".
The OMIM database is a highly reliable compilation of genetic variants from medical and genetics publications.
Just to put value to this, OMIM alone generates more than 69 hits for search queries related to genetic disorders from Pakistan.
Una mutacion en el dominio "NACHT" ocasiona el sindrome llamado FCAS (Familiar cold autoinflammatory sindrome, OMIM 120100), una forma de fiebre periodica hereditaria o enfermedad autoinflamatoria que se manifiesta con urticaria relacionada con el frio, artralgias y conjuntivitis (36).
Disease browser : The query can be a disease name, OMIM accession ID, or specific text, and the orthologous gene pairs of the human, mouse, and bovine databases are summarized for the disease term.
Throw in some fundamentals of pterin-4a-carbinolamine dehydratase deficiency OMIM 264 070, and you quickly get the point that this is not a set of diseases that you would read about in a Reader's Digest, perhaps with an article title, "I Am Joe's Liver," although the liver is one of the culprits in this family of diseases.