Difference between revisions of "OMIM References"

From Embryology
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600957 ANTI-MULLERIAN HORMONE; AMH]
 
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600957 ANTI-MULLERIAN HORMONE; AMH]
 
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=202110 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY]
 
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=202110 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY]
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===Gastrointestinal Tract===
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====Hirschsprung Disease====
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id= [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142623 HIRSCHSPRUNG DISEASE]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id= [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=277580 WAARDENBURG-SHAH SYNDROME]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id= [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=209880 AUTONOMIC CONTROL, CONGENITAL FAILURE OF]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600156 HIRSCHSPRUNG DISEASE 3]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id= [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600155 HIRSCHSPRUNG DISEASE 2; HSCR2]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=235730 HIRSCHSPRUNG DISEASE, MICROCEPHALY, AND IRIS COLOBOMA]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=235760 HIRSCHSPRUNG DISEASE WITH HYPOPLASTIC NAILS AND DYSMORPHIC FACIAL FEATURES]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=235740 HIRSCHSPRUNG DISEASE WITH POLYDACTYLY, RENAL AGENESIS, AND DEAFNESS]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306980 HIRSCHSPRUNG DISEASE WITH TYPE D BRACHYDACTYLY]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=235750 HIRSCHSPRUNG DISEASE WITH ULNAR POLYDACTYLY, POLYSYNDACTYLY OF BIG TOES, AND VENTRICULAR SEPTAL DEFECT]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=235735 HIRSCHSPRUNG DISEASE WITH BILATERAL BICOLORED IRIDES]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761 RET PROTOONCOGENE; RET]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131244 ENDOTHELIN RECEPTOR, TYPE B; EDNRB]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131242 ENDOTHELIN 3; EDN3]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600837 GLIAL CELL LINE-DERIVED NEUROTROPHIC FACTOR; GDNF]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602229 SRY-BOX 10; SOX10]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=193500 WAARDENBURG SYNDROME, TYPE I; WS1]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id= [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=193510 WAARDENBURG SYNDROME, TYPE IIA; WS2A]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602018 NEURTURIN; NRTN]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600423 ENDOTHELIN-CONVERTING ENZYME 1; ECE1]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840 L1 CELL ADHESION MOLECULE; L1CAM]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065 INTEGRIN, BETA-2; ITGB2]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id= [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155240 MEDULLARY THYROID CARCINOMA, FAMILIAL; MTC1]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300048 INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id= [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172800 PIEBALD TRAIT; PBT]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=209900 BARDET-BIEDL SYNDROME, TYPE 2; BBS2]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id= [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=115470 CAT EYE SYNDROME; CES]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=250250 CARTILAGE-HAIR HYPOPLASIA; CHH]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id= [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190685 TRISOMY 21]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=255320 MYOPATHY, CONGENITAL MULTICORE, WITH EXTERNAL OPHTHALMOPLEGIA]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=259700 OSTEOPETROSIS, AUTOSOMAL RECESSIVE]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=221350 DEAFNESS, CONGENITAL, WITH VITILIGO AND ACHALASIA]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=236700 MCKUSICK-KAUFMAN SYNDROME; MKKS]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id= [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=268670 RUTLEDGE LETHAL MULTIPLE CONGENITAL ANOMALY SYNDROME]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id= [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=270400 SMITH-LEMLI-OPITZ SYNDROME, TYPE I]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304100 CORPUS CALLOSUM, PARTIAL AGENESIS OF]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601496 GDNF FAMILY RECEPTOR ALPHA-1; GFRA1]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=208530 ASPLENIA WITH CARDIOVASCULAR ANOMALIES]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=202550 AGANGLIONOSIS, TOTAL INTESTINAL]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id= [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171400 MULTIPLE ENDOCRINE NEOPLASIA, TYPE II; MEN2]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id= [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171300 PHEOCHROMOCYTOMA]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id= [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162300 NEUROMATA, MUCOSAL, WITH ENDOCRINE TUMORS]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156845 MICROPHTHALMIA-ASSOCIATED TRANSCRIPTION FACTOR; MITF]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=154400 ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601223 NEURONAL INTESTINAL DYSPLASIA, TYPE B; NID B]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=223200 DISORGANIZATION, MOUSE, HOMOLOG OF]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id= [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148820 KLEIN-WAARDENBURG SYNDROME]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126800 DUANE SYNDROME]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602523 DOWN SYNDROME CELL ADHESION MOLECULE; DSCAM]
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== 1999 OMIM Pages ==
 
== 1999 OMIM Pages ==

Revision as of 06:05, 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


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