OMIM

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Mendelian Inheritance in Man

A database begun in the early 1960s by Dr VA McKusick as a catalog of mendelian traits and disorders. 12 paper editions were published between 1966 and 1998. The online version, OMIM, was created in the mid-1980s and went live on the web in 1995.

OMIM

Online Mendelian Inheritance in Man Online genetics The electronic–Web site-www.ncbi.nlm.mih.gov/omim version of Mendelian Inheritance in Man, a curated database See MIM catalog.

Online Mendelian Inheritance in Man

OMIM

A database of known genetic diseases and conditions.

References in periodicals archive ?

Beckwith-Wiedemann syndrome (OMIM 130650) is another genetic disorder that is often associated with imprinting.

Epigenetics--an introductory overview

The most common congenital heart defects seen with VACTERL are atrial septal defects, ventricular septal defects, tetralogy of Fallot, transposition of the great arteries, and patent ductus arteriosus (OMIM, n.d.).

Nursing Care of Infants and Children With Congenital Heart Disease and Associated Genetic Conditions

Fanconi anemisi ile iliskili 21 gen (OMIM #227650) tanimlanmistir.

RADIYAL ISIN DEFEKTLERININ KLINIK SINIFLANDIRMASI VE ETYOPATOGENEZININ ARASTIRILMASI/CLINICAL CLASSIFICATION OF RADIAL RAY DEFECTS AND RESEARCH INTO ETIOPATHOGENESIS

PFIC3 (ABCB4 disease, OMIM #602347) is caused by mutations in both alleles of the ABCB4/MDR3 gene that encode phospholipid transporter MDR3, expressed in the canalicular (apical) membrane of hepatocytes [26].

New Insights in Genetic Cholestasis: From Molecular Mechanisms to Clinical Implications

Germline mutations of PTEN have been described in a variety of rare and clinically underrecognized syndromes, collectively known as PTEN hamartoma tumor syndrome (OMIM 601728).

Diffuse Gastric Ganglioneuromatosis: Novel Presentation of PTEN Hamartoma Syndrome--Case Report and Review of Gastric Ganglioneuromatous Proliferations and a Novel PTEN Gene Mutation

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].

Further Evidence for the Implication of LZTR1, a Gene Not Associated with the Ras-Mapk Pathway, in the Pathogenesis of Noonan Syndrome

Cleidocranial dysplasia (CCD) (OMIM 11,960) is a rare skeletal disorder which is characterized by delayed closure of anterior fontanelle, absent or hypoplastic clavicles, dental problems, and short stature.

Cleidocranial dysplasia: A rare case report

This edition adds OMIM (Online Mendelian Inheritance in Man) numbers for many of the genetic conditions.

Practical Algorithms in Pediatric Endocrinology, 3rd Revised Edition

Notably, this study reported a tight connection between serine protease inhibitor Kazal type 1 (SPINK1, OMIM 167790) c.101A>G mutation and the onset of pediatric CP.

Genetic Background and Clinical Characters of Pediatric Chronic Pancreatitis: Data and Implications from the East

More than 200 NPHS2 (OMIM * 604766) gene mutations are registered in HGMD Professional 2017.1 (http://www.hgmd.cf.ac.uk) and 127 in the HGMD Public 2017.1 associated with familial and sporadic forms of SRNS.

NPHS2 Mutations: A Closer Look to Latin American Countries

(5) Although the only culprit in this disorder is CLNC1, different mutations in this gene can cause autosomaldominant (Thomsen disease, OMIM 160800) or recessive trait (recessive generalized myotonia or Becker myotonia, OMIM 255700).

A novel missense mutation in CLCN1 gene in a family with autosomal recessive congenital myotonia

Digitotalar dysmorphism (DTD; OMIM #126050) is an autosomal dominant disorder characterised by congenital fixed flexion deformities of the digits and 'rocker-bottom' feet due to a vertical position of the talus.