OMIM References: Difference between revisions
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176761 PROLACTIN RECEPTOR; PRLR] | * [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176761 PROLACTIN RECEPTOR; PRLR] | ||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182888 ZONA PELLUCIDA GLYCOPROTEIN 2; ZP2] | * [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182888 ZONA PELLUCIDA GLYCOPROTEIN 2; ZP2] | ||
===Sperm Motility=== | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=244400 KARTAGENER SYNDROME] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603038 SPERM-ASSOCIATED ANTIGEN 4; SPAG4] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160900 DYSTROPHIA MYOTONICA; DMPK] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=242650 IMMOTILE CILIA SYNDROME 1; ICS1] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107730 APOLIPOPROTEIN B; APOB] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264600 PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276900 USHER SYNDROME, TYPE IA; USH1A] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601148 MITOCHONDRIAL CAPSULE SELENOPROTEIN; MCSP] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601294 SOLUTE CARRIER FAMILY 6, MEMBER 10; SLC6A10] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114107 PROTEIN PHOSPHATASE 3, CATALYTIC SUBUNIT, GAMMA ISOFORM; PPP3CC] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147460 SUPEROXIDE DISMUTASE 2, MITOCHONDRIAL; SOD2] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176910 PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE II, ALPHA; PRKAR2A] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=215520 CILIARY DYSKINESIA DUE TO TRANSPOSITION OF CILIARY MICROTUBULES] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=253300 SPINAL MUSCULAR ATROPHY I; SMA1] | |||
== 1999 OMIM Pages == | == 1999 OMIM Pages == | ||
Revision as of 10:36, 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?
2010 OMIM Pages by Developmental Topic
Week 1
- GLOBOZOOSPERMIA Acrosome Malformation of Spermatoza
- Zona Pellucida Glycoprotein 2; ZP2
- Zona Pellucida Glycoprotein 3A; ZP3A
- X-inactivation-specific Transcript: Xist
- Zona Pellucida Receptor Tyrosine Kinase, 95-KD; ZRK
Fertilization
- SPERM-SPECIFIC ANTIGEN 1; SSFA1 FERTILIZATION ANTIGEN 1
- ZONA PELLUCIDA RECEPTOR TYROSINE KINASE, 95-KD; ZRK
- ZONA PELLUCIDA GLYCOPROTEIN 3A; ZP3A
- ZONA PELLUCIDA GLYCOPROTEIN 1
- APOLIPOPROTEIN B; APOB
- CLEAVAGE SIGNAL-1 PROTEIN; CS1
- ACROSOME MALFORMATION OF SPERMATOZOA
- FERTILIN, BETA; FTNB
- TUBULIN, GAMMA; TUBG
- KARTAGENER SYNDROME
- HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1; HPRT1
- PROLACTIN RECEPTOR; PRLR
- ZONA PELLUCIDA GLYCOPROTEIN 2; ZP2
Sperm Motility
- KARTAGENER SYNDROME
- SPERM-ASSOCIATED ANTIGEN 4; SPAG4
- DYSTROPHIA MYOTONICA; DMPK
- IMMOTILE CILIA SYNDROME 1; ICS1
- APOLIPOPROTEIN B; APOB
- PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH
- USHER SYNDROME, TYPE IA; USH1A
- MITOCHONDRIAL CAPSULE SELENOPROTEIN; MCSP
- SOLUTE CARRIER FAMILY 6, MEMBER 10; SLC6A10
- PROTEIN PHOSPHATASE 3, CATALYTIC SUBUNIT, GAMMA ISOFORM; PPP3CC
- SUPEROXIDE DISMUTASE 2, MITOCHONDRIAL; SOD2
- PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE II, ALPHA; PRKAR2A
- CILIARY DYSKINESIA DUE TO TRANSPOSITION OF CILIARY MICROTUBULES
- SPINAL MUSCULAR ATROPHY I; SMA1
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- List Select
- Sperm List- Select
- Sperm Motility List- Select
- Acrosome Malformation of Spermatoza
- Zona Pellucida Glycoprotein 2; ZP2
- Zona Pellucida Glycoprotein 3A; ZP3A
- X-inactivation-specific Transcript: Xist
- Zona Pellucida Receptor Tyrosine Kinase, 95-KD; ZRK
Fertilization
- Fertilization List- Select
- Sperm List-Select
- Sperm Motility List- Select
- Acrosome Malformation of Spermatoza
- Zona pellucida Glycoprotein 2; ZP2
- Zona Pellucida Glycoprotein 3A; ZP3A
- X-Inactivation-Specific Transcript; Xist
- Zona Pellucida Receptor Tyrosine Kinase, 95-KD; ZRK
Week 2
Week 3
Abnormal Development
Neural
Cardiovascular
- Tetralogy of Fallot List- Select
- Patent Ductus Arteriosus List- Select
- Heart List-Select
- Atrial Septal Defect List- Select
- Atrial Septal Defect
- Patent Ductus Arteriosus
- Tetralogy of Fallot
- Bundle Branch Block
Musculoskeletal
- Dystrophin-Associated Glycoprotein1; DAG1
- Hip, Dislocation of, Congenital
- Syndactyly, Type I
- Syndactyly, Type II
- Syndactyly, Type III
- Syndactyly, Type IV
- Syndactyly, Type V
- Myotonic Dystrophy
- Arthrogryposis Syndrome List- Select
- Muscular Dystrophy List- Select
- Congenital Dystrophy List- Select
- Scoliosis List- Select
- Syndactly List- Select
Gastrointestinal
- Hirschsprung Disease
- Volvulus of Midgut
- Hirschsprung Disease 2
- Gastrointestinal Abnormalities Multiple
- Select Entries
Head and Neck
- Orofacial Cleft 1; OFC1
- Ear Malformation
- Pierre Robin Syndrome and Oligodactyly
- Pierre Robin Syndrome
- Pierre Robin Syndrome with Congenital Heart Malformation and Clubfoot
- Cleft Lip List- Select
- Pierre Robin Syndrome List- Select
Coelomic Cavity
Respiratory
- Lung List- Select
- Emphysema, Congenital Lobar; CLE
- Oculodigitoesophagoduodenal Syndrome
- Tracheoesophageal Fistula
Neural Crest
Senses
Urogenital
Kidney
- Prune Belly Syndrome
- Multicystic Renal Dysplasia
- Polycystic Kidneys
- Urogenital Adysplasia
- Wilms Tumor 1
- Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation and Deafness
- Exstrophy of Bladder
Gonad
- Sex Reversal, Autosomal, 2; SRA2
- Cryptorchidism
- XX Male Syndrome
- Gonadal Dysgenesis, XY Female Type; GDXY
- Gonadoblastoma; GBY
- Ovarian Germ Cell Cancer
- Gonad List- Select
