Difference between revisions of "OMIM References"

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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602523 DOWN SYNDROME CELL ADHESION MOLECULE; DSCAM]
 
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602523 DOWN SYNDROME CELL ADHESION MOLECULE; DSCAM]
  
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===Coelomic Cavity===
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====Diaphragmatic Hernia====
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142340 HERNIA, DIAPHRAGMATIC]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229850 FRYNS SYNDROME; FRNS]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306950 HERNIA, ANTERIOR DIAPHRAGMATIC]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=222448 DIAPHRAGMATIC HERNIA, EXOMPHALOS, ABSENT CORPUS CALLOSUM, HYPERTELORISM, MYOPIA, AND SENSORINEURAL DEAFNESS]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=226735 EPIDERMOLYSIS BULLOSA WITH DIAPHRAGMATIC HERNIA]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=222400 DIAPHRAGM, UNILATERAL AGENESIS OF]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=223330 DIVERTICULOSIS OF BOWEL, HERNIA, AND RETINAL DETACHMENT]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122470 CORNELIA DE LANGE SYNDROME 1; CDL1]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312870 SIMPSON DYSMORPHIA SYNDROME; SDYS]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=194080 WILMS TUMOR AND PSEUDOHERMAPHRODITISM]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313850 THORACOABDOMINAL SYNDROME; THAS]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130000 EHLERS-DANLOS SYNDROME, TYPE I; EDS1]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=110100 BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS; BPES]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=267000 RENAL HAMARTOMAS, NEPHROBLASTOMATOSIS, AND FETAL GIGANTISM]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=169400 PELGER-HUET ANOMALY]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=206500 ANENCEPHALY]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=194190 WOLF-HIRSCHHORN SYNDROME; WHS]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179820 RENIN; REN]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309801 MICROPHTHALMIA WITH LINEAR SKIN DEFECTS; MLS]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134770 FERRITIN HEAVY CHAIN 1; FTH1]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304110 CRANIOFRONTONASAL SYNDROME; CFNS]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305600 FOCAL DERMAL HYPOPLASIA; DHOF]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150240 LAMININ, BETA-1; LAMB1]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=219100 CUTIS LAXA]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=202660 AGONADISM WITH MULTIPLE INTERNAL MALFORMATIONS]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=215100 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=265430 PULMONARY HYPOPLASIA]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276820 ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=245600 LARSEN SYNDROME, RECESSIVE]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=211750 C SYNDROME]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122920 CRANIOFRONTAL DYSPLASIA]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601165 CLEFT LIP/PALATE WITH CHARACTERISTIC FACIES, INTESTINAL MALROTATION, AND LETHAL CONGENITAL HEART DISEASE]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601803 PALLISTER-KILLIAN SYNDROME; PKS]
  
 
== 1999 OMIM Pages ==
 
== 1999 OMIM Pages ==

Revision as of 06:09, 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

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

Urogenital

Kidney

Gonad

Gastrointestinal Tract

Hirschsprung Disease


Coelomic Cavity

Diaphragmatic Hernia

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