Difference between revisions of "OMIM References"

From Embryology
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=244600 KERATOCONUS POSTICUS CIRCUMSCRIPTUS; KPC]
 
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=244600 KERATOCONUS POSTICUS CIRCUMSCRIPTUS; KPC]
 
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=166500 OSTEOPATHIA STRIATA WITH CR]
 
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=166500 OSTEOPATHIA STRIATA WITH CR]
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 +
====Cleft Palate====
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=119530 OROFACIAL CLEFT 1; OFC1]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=225060 CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME; CLPED1 OROFACIAL CLEFT 7, INCLUDED; OFC7, INCLUDED]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=119540 CLEFT PALATE, ISOLATED; CPI]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600625 OROFACIAL CLEFT 11; OFC11]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129400 RAPP-HODGKIN SYNDROME; RHS]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164220 SCHILBACH-ROTT SYNDROME OCULAR HYPOTELORISM, SUBMUCOSAL CLEFT PALATE, AND HYPOSPADIAS]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=303400 CLEFT PALATE, X-LINKED; CPX]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608864 OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=119580 BLEPHAROCHEILODONTIC SYNDROME]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602966 OROFACIAL CLEFT 2; OFC2]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608874 OROFACIAL CLEFT 5; OFC5]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601912 SMALL UBIQUITIN-LIKE MODIFIER 1; SUMO1 OROFACIAL CLEFT 10, INCLUDED; OFC10, INCLUDED]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=241850 HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=258320 OMPHALOCELE-CLEFT PALATE SYNDROME, LETHAL]
 +
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600757 OROFACIAL CLEFT 3; OFC3]
 +
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612858 OROFACIAL CLEFT 12; OFC12]
 +
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129810 ECTRODACTYLY AND ECTODERMAL DYSPLASIA WITHOUT CLEFT LIP/PALATE]
 +
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608371 OROFACIAL CLEFT 4]
 +
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610361 OROFACIAL CLEFT 9]
 +
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201180 ACROFRONTOFACIONASAL DYSOSTOSIS 1]
  
 
== 1999 OMIM Pages ==
 
== 1999 OMIM Pages ==

Revision as of 12:55, 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: Original Embryo Page | OMIM | Citing OMIM?

Page Links

2010 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

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