OMIM References: Difference between revisions

From Embryology
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602249 PROGEROID FACIAL APPEARANCE WITH HAND ANOMALIES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602249 PROGEROID FACIAL APPEARANCE WITH HAND ANOMALIES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603530 LIGHT FIXATION SEIZURE SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603530 LIGHT FIXATION SEIZURE SYNDROME]
====Atrial Septal Defect ====
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600309 ATRIOVENTRICULAR SEPTAL DEFECT; AVSD]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108800 ATRIAL SEPTAL DEFECT; ASD]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108900 ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602482 AXENFELD-RIEGER ANOMALY WITH ATRIAL SEPTAL DEFECT AND SENSORINEURAL HEARING LOSS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113301 BRACHYDACTYLY, TYPE E, WITH ATRIAL SEPTAL DEFECT, TYPE II]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178650 PULMONIC STENOSIS, ATRIAL SEPTAL DEFECT, AND UNIQUE ELECTROCARDIOGRAPHIC ABNORMALITIES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601927 LYMPHEDEMA, ATRIAL SEPTAL DEFECT, AND FACIAL CHANGES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=220210 DANDY-WALKER-LIKE MALFORMATION WITH ATRIOVENTRICULAR SEPTAL DEFECT]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600123 ATRIOVENTRICULAR SEPTAL DEFECT WITH BLEPHAROPHIMOSIS AND ANAL AND RADIAL DEFECTS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142900 HOLT-ORAM SYNDROME; HOS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=212090 CARDIAC SEPTAL DEFECTS WITH COARCTATION OF THE AORTA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600584 CARDIAC-SPECIFIC HOMEO BOX; CSX]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=268310 ROBINOW SYNDROME, RECESSIVE FORM]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=115080 CARDIAC CONDUCTION DEFECT]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100300 ABSENCE DEFECT OF LIMBS, SCALP, AND SKULL]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300166 OCULOFACIOCARDIODENTAL SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121000 CONGENITAL HEART DISEASE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=145410 HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147920 KABUKI SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=214800 CHOANAL ATRESIA, POSTERIOR; PCA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192600 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600001 PANCREATIC HYPOPLASIA, CONGENITAL, WITH DIABETES MELLITUS AND CONGENITAL HEART DISEASE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=140400 HEART BLOCK]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192430 VELOCARDIOFACIAL SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=255960 MYXOMA, INTRACARDIAC]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=270100 SITUS INVERSUS VISCERUM]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=263200 POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1; PKHD1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=200610 ACHONDROGENESIS, TYPE II; ACG2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=208530 ASPLENIA WITH CARDIOVASCULAR ANOMALIES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192350 VATER ASSOCIATION]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136760 FRONTONASAL DYSPLASIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126320 DISTICHIASIS WITH CONGENITAL ANOMALIES OF THE HEART AND PERIPHERAL VASCULATURE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=224700 EBSTEIN ANOMALY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=115150 CARDIOFACIOCUTANEOUS SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=225500 ELLIS-VAN CREVELD SYNDROME; EVC]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=241310 HYPOMANDIBULAR FACIOCRANIAL DYSOSTOSIS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=153480 MACROCEPHALY, MULTIPLE LIPOMAS, AND HEMANGIOMATA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602730 ACTIVIN A RECEPTOR, TYPE IIB; ACVR2B]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248950 MCDONOUGH SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=277200 VENTRICLE, HYPOPLASIA OF RIGHT]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=249670 MESOAXIAL HEXADACTYLY AND CARDIAC MALFORMATION]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601322 PORENCEPHALY, CEREBELLAR HYPOPLASIA, AND INTERNAL MALFORMATIONS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=277740 WHITE FORELOCK WITH MALFORMATIONS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600987 CARDIAC MALFORMATION, CLEFT LIP-PALATE, MICROCEPHALY AND DIGITAL ANOMALIES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=263630 POLYSYNDACTYLY WITH CARDIAC MALFORMATION]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=268300 ROBERTS SYNDROME; RBS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311900 PIERRE ROBIN SYNDROME WITH CONGENITAL HEART MALFORMATION AND CLUBFOOT]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601321 NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601450 DISLOCATION OF THE HIP, CONGENITAL, WITH HYPEREXTENSIBILITY OF FINGERS AND FACIAL] DYSMORPHISM


== 1999 OMIM Pages ==
== 1999 OMIM Pages ==

Revision as of 10:55, 23 March 2010

Introduction

There are many different Online Mendelian Inheritence in Man (OMIM) reference materials used in UNSW Embryology. Selected OMIM references can also be found on the Abnormalities (page 2) of each section of Notes and 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.


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



Links: OMIM | Citing OMIM?

2010 OMIM Pages by Developmental Topic

Week 1

Fertilization

Spermatozoa Motility

Spermatozoa

Cardiovascular

Tetralogy of Fallot

Atrial Septal Defect

1999 OMIM Pages

In 1999 I searched the Online Mendelian Inheritence in Man (OMIM) database and selected a small number of references for each topic. These earlier searches are now slightly out of date, but should still be a good starting point for those interested in the topics.

These pages retain the original earlier site (Version 3) page layout.

Week 1

Fertilization

Week 2

Week 3

Abnormal Development

Neural

Cardiovascular

Musculoskeletal

Gastrointestinal

Head and Neck

Coelomic Cavity

Respiratory

Neural Crest

Senses

Urogenital

Kidney

Gonad

Endocrine

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