Difference between revisions of "OMIM References"

From Embryology
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS]
 
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS]
 
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=260660 PELVISCAPULAR DYSPLASIA]
 
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=260660 PELVISCAPULAR DYSPLASIA]
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===Head and Neck===
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====Cleft lip====
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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=225000 ECTODERMAL DYSPLASIA, CLEFT LIP AND PALATE, HAND AND FOOT DEFORMITY, AND MENTAL RETARDATION]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600625 CLEFT LIP, CONGENITAL HEALED]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201180 ACROFRONTOFACIONASAL DYSOSTOSIS SYNDROME]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129810 ECTRODACTYLY AND ECTODERMAL DYSPLASIA WITHOUT CLEFT LIP/PALATE]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=119300 CLEFT LIP AND/OR PALATE WITH MUCOUS CYSTS OF LOWER LIP]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=119500 CLEFT LIP/PALATE, PARAMEDIAN MUCOUS CYSTS OF THE LOWER LIP, POPLITEAL PTERYGIUM, DIGITAL AND GENITAL ANOMALIES]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129400 ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP AND CLEFT PALATE]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=268300 ROBERTS SYNDROME; RBS]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155145 CLEFT, MEDIAN, OF UPPER LIP WITH POLYPS OF FACIAL SKIN AND NASAL MUCOSA]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE]
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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=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=174300 POLYDACTYLY, POSTAXIAL, WITH MEDIAN CLEFT OF UPPER LIP]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120433 COLOBOMA, UVEAL, WITH CLEFT LIP AND PALATE AND MENTAL RETARDATION]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=277170 VARADI-PAPP SYNDROME]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601420 MICROCEPHALY, CORPUS CALLOSUM DYSGENESIS, AND CLEFT LIP/PALATE]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=216100 CLEFT LIP/PALATE WITH ABNORMAL THUMBS AND MICROCEPHALY]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600990 LAGOPHTHALMIA WITH BILATERAL CLEFT LIP AND PALATE]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600987 CARDIAC MALFORMATION, CLEFT LIP-PALATE, MICROCEPHALY AND DIGITAL ANOMALIES]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301815 ARTHROGRYPOSIS, ECTODERMAL DYSPLASIA, CLEFT LIP/PALATE, AND DEVELOPMENTAL DELAY]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=244300 KAPUR-TORIELLO SYNDROME]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=242840 IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602077 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 2; EEC2]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179400 RADIUS, APLASIA OF, WITH CLEFT LIP/PALATE]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=218090 CRANE-HEISE SYNDROME]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113620 BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATE NASOLACRIMAL DUCT, AND PREMATURE AGING]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=119540 CLEFT PALATE; CP]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106250 ANKYLOBLEPHARON FILIFORME ADNATUM AND CLEFT PALATE]
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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=602966 OROFACIAL CLEFT 2; OFC2]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600460 CLEFT PALATE, CARDIAC DEFECT, GENITAL ANOMALIES, AND ECTRODACTYLY]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157170 HOLOPROSENCEPHALY 2; HPE2]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600757 OROFACIAL CLEFT 3; OFC3]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129830 ECTRODACTYLY-CLEFT PALATE SYNDROME]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=231060 GENITOPALATOCARDIAC SYNDROME]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=260150 PALANT CLEFT PALATE SYNDROME]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=183400 SPLIT LOWER LIP]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=145410 HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS]
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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=236110 HOLZGREVE SYNDROME]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=225060 ECTODERMAL DYSPLASIA, TYPE 4; ED4]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164180 OCULOCEREBROCUTANEOUS SYNDROME]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311200 OROFACIODIGITAL SYNDROME 1; OFD1]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=236100 HOLOPROSENCEPHALY 1, ALOBAR; HPE1]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109400 BASAL CELL NEVUS SYNDROME; BCNS]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304050 CORPUS CALLOSUM, AGENESIS OF, WITH CHORIORETINAL ABNORMALITY]
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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=269860 SHORT RIB SYNDROME, BEEMER TYPE]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=236670 WALKER-WARBURG SYNDROME]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=214800 CHOANAL ATRESIA, POSTERIOR; PCA]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311450 PALLISTER W SYNDROME]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600776 ANOPHTHALMIA-PLUS SYNDROME]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134780 FEMORAL-FACIAL SYNDROME; FFS]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=228930 FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY]
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* [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=601357 BRACHIAL AMELIA, FOREBRAIN DEFECTS, AND FACIAL CLEFTS]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=268850 SAO PAULO MCA/MR SYNDROME]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601349 MICROCEPHALY, MICROPHTHALMIA, ECTRODACTYLY OF LOWER LIMBS, AND PROGNATHISM; MMEP]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601701 ARTHROGRYPOSIS AND ECTODERMAL DYSPLASIA]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=263520 POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE II]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108300 STICKLER SYNDROME, TYPE I; STL1]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217100 CONSTRICTING BANDS, CONGENITAL]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184705 STEINFELD SYNDROME]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300000 OPITZ SYNDROME]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188400 DIGEORGE SYNDROME; DGS]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=220210 DANDY-WALKER-LIKE MALFORMATION WITH ATRIOVENTRICULAR SEPTAL DEFECT]
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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=161200 NAIL-PATELLA SYNDROME; NPS]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=261540 PETERS ANOMALY WITH SHORT-LIMB DWARFISM]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=244600 KERATOCONUS POSTICUS CIRCUMSCRIPTUS; KPC]
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=166500 OSTEOPATHIA STRIATA WITH CR]
  
  

Revision as of 11:38, 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?

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


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