Difference between revisions of "OMIM References"

From Embryology
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100600 ACANTHOSIS NIGRICANS]
 
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100600 ACANTHOSIS NIGRICANS]
 
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603613 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 10C; TNFRSF10C]
 
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603613 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 10C; TNFRSF10C]
 
== 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 These earlier searches are now slightly out of date, but should still be a good starting point for those interested in the topics.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 ===
 
* [http://embryology.med.unsw.edu.au/OMIMfind/week1/fertlist.htm Fertilization- List Select]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/week1/sperlist.htm Sperm List- Select]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/week1/spermot_list.htm Sperm Motility List- Select]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/fert/102530.htm Acrosome Malformation of Spermatoza]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/week1/182888.htm Zona Pellucida Glycoprotein 2; ZP2]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/week1/182889.htm Zona Pellucida Glycoprotein 3A; ZP3A]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/fert/314670.htm X-inactivation-specific Transcript: Xist]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/fert/601050.htm Zona Pellucida Receptor Tyrosine Kinase, 95-KD; ZRK ]
 
 
Fertilization
 
 
* [http://embryology.med.unsw.edu.au/OMIMfind/fert/fertlist.htm Fertilization List- Select]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/fert/sperlist.htm Sperm List-Select]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/fert/spermot_list.htm Sperm Motility List- Select]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/fert/102530.htm Acrosome Malformation of Spermatoza]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/fert/182888.htm Zona pellucida Glycoprotein 2; ZP2]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/fert/182889.htm Zona Pellucida Glycoprotein 3A; ZP3A]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/fert/314670.htm X-Inactivation-Specific Transcript; Xist]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/fert/601050.htm Zona Pellucida Receptor Tyrosine Kinase, 95-KD; ZRK]
 
 
=== Week 2 ===
 
=== Week 3 ===
 
=== Abnormal Development ===
 
* [http://embryology.med.unsw.edu.au/OMIMfind/abnorm/103780.htm Fetal Alcohol Syndrome]
 
 
=== Neural ===
 
=== Cardiovascular ===
 
* [http://embryology.med.unsw.edu.au/OMIMfind/heart/OMIM-tof_list.htm Tetralogy of Fallot List- Select]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/heart/OMIM-pda_list.htm Patent Ductus Arteriosus List- Select]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/heart/OMIM-heart.htm Heart List-Select]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/heart/OMIM-asd_list.htm Atrial Septal Defect List- Select]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/heart/OMIM-108800.htm Atrial Septal Defect]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/heart/OMIM-169100.htm Patent Ductus Arteriosus]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/heart/OMIM-187500.htm Tetralogy of Fallot]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/heart/OMIM-branchblock.htm Bundle Branch Block]
 
 
=== Musculoskeletal ===
 
* [http://embryology.med.unsw.edu.au/OMIMfind/skmus/OMIM-128239.htm Dystrophin-Associated Glycoprotein1; DAG1]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/skmus/OMIM-142700.htm Hip, Dislocation of, Congenital]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/skmus/OMIM-185900.htm Syndactyly, Type I]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/skmus/OMIM-186000.htm Syndactyly, Type II]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/skmus/OMIM-186100.htm Syndactyly, Type III]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/skmus/OMIM-186200.htm Syndactyly, Type IV]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/skmus/OMIM-186300.htm Syndactyly, Type V]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/skmus/OMIM-310200.htm Myotonic Dystrophy]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/skmus/OMIM-arthrogryposis_list.htm Arthrogryposis Syndrome List- Select]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/skmus/OMIM-dystophy_list.htm Muscular Dystrophy List- Select]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/skmus/OMIM-hip_list.htm Congenital Dystrophy List- Select]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/skmus/OMIM-scoliosis_list.htm Scoliosis List- Select]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/skmus/OMIM-syndactyly_list.htm Syndactly List- Select]
 
 
=== Gastrointestinal ===
 
* [http://embryology.med.unsw.edu.au/OMIMfind/git/OMIM-142623.htm Hirschsprung Disease]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/git/OMIM-193250.htm Volvulus of Midgut]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/git/OMIM-600155.htm Hirschsprung Disease 2]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/git/OMIM-601346.htm Gastrointestinal Abnormalities Multiple]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/git/OMIM-hs_list.htm Select Entries]
 
 
=== Head and Neck ===
 
* [http://embryology.med.unsw.edu.au/OMIMfind/head/OMIM-119530.htm Orofacial Cleft 1; OFC1]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/head/OMIM-128600.htm Ear Malformation]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/head/OMIM-172880.htm Pierre Robin Syndrome and Oligodactyly]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/head/OMIM-261800.htm Pierre Robin Syndrome]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/head/OMIM-311900.htm Pierre Robin Syndrome with Congenital Heart Malformation and Clubfoot]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/head/OMIM-cleftlip_list.htm Cleft Lip List- Select]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/head/OMIM-prs_list.htm Pierre Robin Syndrome List- Select]
 
 
=== Coelomic Cavity ===
 
* [http://embryology.med.unsw.edu.au/OMIMfind/coelom/OMIM-dh_list.htm Diaphragmatic Hernia List]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/coelom/OMIM-142340.htm Diaphragmatic Hernia]
 
 
=== Respiratory ===
 
* [http://embryology.med.unsw.edu.au/OMIMfind/respire/OMIM-lung_list.htm Lung List- Select]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/respire/OMIM-130710.htm Emphysema, Congenital Lobar; CLE]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/respire/OMIM-164280.htm Oculodigitoesophagoduodenal Syndrome]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/respire/OMIM-189960.htm Tracheoesophageal Fistula]
 
 
=== Neural Crest ===
 
=== Senses ===
 
=== Urogenital ===
 
Kidney
 
 
* [http://embryology.med.unsw.edu.au/OMIMfind/kidney/OMIM-100100.htm Prune Belly Syndrome]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/kidney/OMIM-143400.htm Multicystic Renal Dysplasia]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/kidney/OMIM-173900.htm Polycystic Kidneys]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/kidney/OMIM-191830.htm Urogenital Adysplasia]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/kidney/OMIM-194070.htm Wilms Tumor 1]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/kidney/OMIM-264140.htm Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation and Deafness]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/kidney/OMIM-600057.htm Exstrophy of Bladder]
 
 
Gonad
 
 
* [http://embryology.med.unsw.edu.au/OMIMfind/gonad/OMIM-154230.htm Sex Reversal, Autosomal, 2; SRA2]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/gonad/OMIM-219050.htm Cryptorchidism]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/gonad/OMIM-278850.htm XX Male Syndrome]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/gonad/OMIM-306100.htm Gonadal Dysgenesis, XY Female Type; GDXY]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/gonad/OMIM-424500.htm Gonadoblastoma; GBY]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/gonad/OMIM-603737.htm Ovarian Germ Cell Cancer]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/gonad/OMIM-gonadlist.htm Gonad List- Select]
 
 
=== Endocrine ===
 
* [http://embryology.med.unsw.edu.au/OMIMfind/endocrine/OMIM-164761.htm Ret Protooncogene]
 
* [http://embryology.med.unsw.edu.au/OMIMfind/endocrine/OMIM-188400.htm DiGeorge Syndrome]
 

Revision as of 06:30, 25 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: Original Embryo Page | OMIM | Citing OMIM?

Page Links

OMIM Pages by Developmental Topic

Week 1

Fertilization

Spermatozoa Motility

Spermatozoa

Cardiovascular

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

187760 THORACOLARYNGOPELVIC DYSPLASIA; TLPD]