OMIM References

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Introduction

Victor McKusick (1921-2008)
Victor McKusick (1921-2008)

There are many different Online Mendelian Inheritence in Man (OMIM) reference materials linked and used in UNSW Embryology. Selected OMIM references can also be found in the Abnormalities section of each page. There are also search buttons that will perform searches using specific term(s) of external databases. Some search results will allow access to the full original document, while others may require a Journal subscription to access the full document.


Students when referencing specific materials should as much as possible cite the original Research article and not Review articles. When wanting to give a broad overview or summaries of the field, the Review articles should be cited (and indicated as "reviews"). Students should also avoid direct text cut and paste and if absolutely necessary should place in "quotation marks" citing the original reference.


Victor McKusick (1921-2008) was a US medical geneticist who while at the Johns Hopkins in 1957 conceived and compiled Mendelian Inheritance in Man, later becoming the Online Mendelian Inheritance in Man (OMIM). Links are provided to OMIM pages throughout the Embryology website.


About OMIM "Online Mendelian Inheritance in Man OMIM is a comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes. The full-text, referenced overviews in OMIM contain information on all known mendelian disorders and over 12,000 genes. OMIM focuses on the relationship between phenotype and genotype. It is updated daily, and the entries contain copious links to other genetics resources." OMIM



Note a European based online database Orphanet describes rare diseases.


Links: Abnormal Development - Genetic | OMIM | Citing OMIM?


Citing a specific entry in OMIM
Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: {MIM number}: {Date last edited}: . World Wide Web URL: http://omim.org/

Page Links


OMIM Pages by Developmental Topic

Week 1

Fertilization

Spermatozoa Motility

Spermatozoa

Cardiovascular

Cardiovascular Links: Introduction | Heart Tutorial | Lecture - Early Vascular | Lecture - Heart | Movies | Heart | Coronary Circulation | Heart Valve | Heart Rate | Circulation | Blood | Blood Vessel | Blood Vessel Histology | Cardiac Muscle Histology | Lymphatic | Ductus Venosus | Spleen | Stage 22 | Abnormalities | OMIM | 2012 ECHO Meeting | 2016 Cardiac Review | Category:Cardiovascular
Historic Embryology - Cardiovascular 
1902 Vena cava inferior | 1905 Brain Blood Vessels | 1909 Cervical Veins | 1912 Heart | 1912 Human Heart | 1914 Earliest Blood-Vessels | 1915 Congenital Cardiac Disease | 1915 Dura Venous Sinuses | 1916 Pars Membranacea Septi | 1919 Lower Limb Arteries | 1921 Human Brain Vascular | 1921 Spleen | 1922 Aortic-Arch System | 1922 Pig Forelimb Arteries | 1922 Chicken Pulmonary | 1923 Head Subcutaneous Plexus | 1925 Venous Development | 1928 Heart Blood Flow | 1935 Aorta | 1935 Venous valves | 1938 Pars Membranacea Septi | 1938 Foramen Ovale | 1939 Atrio-Ventricular Valves | 1940 Vena cava inferior | 1940 Early Hematopoiesis | 1942 Truncus and Conus Partitioning | Ziegler Heart Models | 1951 Heart Movie | 1954 Week 9 Heart | 1957 Cranial venous system | 1959 Brain Arterial Anastomoses | Historic Embryology Papers | 2012 ECHO Meeting | 2016 Cardiac Review | Historic Disclaimer

Tetralogy of Fallot

Atrial Septal Defect

Musculoskeletal

Muscular Dystrophy

Syndactyly


Scoliosis

Congenital Dislocation of the Hip


Head and Neck

Cleft Lip

Cleft Palate

Pierre Robin Syndrome

Urogenital

Kidney

Gonad

Gastrointestinal Tract

Hirschsprung Disease


Coelomic Cavity

Diaphragmatic Hernia

Respiratory

Respiratory System - Abnormalities

187760 THORACOLARYNGOPELVIC DYSPLASIA; TLPD]

Glossary Links

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 | Numbers | Symbols

Cite this page: Hill, M.A. 2017 Embryology OMIM References. Retrieved September 24, 2017, from https://embryology.med.unsw.edu.au/embryology/index.php/OMIM_References

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© Dr Mark Hill 2017, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G