OMIM References: Difference between revisions
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103280 ADULT SKELETAL MUSCLE GENE] | * [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103280 ADULT SKELETAL MUSCLE GENE] | ||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=219700 CYSTIC FIBROSIS; CF] | * [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=219700 CYSTIC FIBROSIS; CF] | ||
=== Cardiovascular === | |||
* [http://embryology.med.unsw.edu.au/OMIMfind/heart/OMIM-tof_list.htm Tetralogy of Fallot List- Select] | |||
* [http://embryology.med.unsw.edu.au/OMIMfind/heart/OMIM-pda_list.htm Patent Ductus Arteriosus List- Select] | |||
* [http://embryology.med.unsw.edu.au/OMIMfind/heart/OMIM-heart.htm Heart List-Select] | |||
* [http://embryology.med.unsw.edu.au/OMIMfind/heart/OMIM-asd_list.htm Atrial Septal Defect List- Select] | |||
* [http://embryology.med.unsw.edu.au/OMIMfind/heart/OMIM-108800.htm Atrial Septal Defect] | |||
* [http://embryology.med.unsw.edu.au/OMIMfind/heart/OMIM-169100.htm Patent Ductus Arteriosus] | |||
* [http://embryology.med.unsw.edu.au/OMIMfind/heart/OMIM-187500.htm Tetralogy of Fallot] | |||
* [http://embryology.med.unsw.edu.au/OMIMfind/heart/OMIM-branchblock.htm Bundle Branch Block] | |||
== 1999 OMIM Pages == | == 1999 OMIM Pages == |
Revision as of 10:46, 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
Spermatozoa 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
Spermatozoa
- OUTER DENSE FIBER OF SPERM TAILS 1; ODF1
- OUTER DENSE FIBER OF SPERM TAILS 2; ODF2
- SPERM ADHESION MOLECULE 1; SPAM1
- ZONA PELLUCIDA GLYCOPROTEIN 3A; ZP3A
- SPERM PROTAMINE P4; PRM4
- SPERM PROTAMINE P1; PRM1
- DIAPHORASE 3; DIA3
- SPERM-ASSOCIATED ANTIGEN 1; SPAG1
- ZONA PELLUCIDA GLYCOPROTEIN 2; ZP2
- SPERM-ASSOCIATED ANTIGEN 4; SPAG4
- NUCLEAR AUTOANTIGENIC SPERM PROTEIN; NASP
- SPERM MEMBRANE PROTEIN
- ENOLASE, SPERM SPECIFIC; ENO4
- UDP-N-ACETYLGLUCOSAMINE PYROPHOSPHORYLASE 1; UAP1
- SPERM PROTAMINE P2; PRM2
- SPASTIC PARAPLEGIA, EPILEPSY, AND MENTAL RETARDATION; SPERM
- KARTAGENER SYNDROME
- ZONA PELLUCIDA RECEPTOR TYROSINE KINASE, 95-KD; ZRK
- DYSTROPHIA MYOTONICA; DMPK
- HUNTINGTON DISEASE; HD
- FERTILIN, BETA; FTNB
- LACTATE DEHYDROGENASE-C; LDHC
- DIPEPTIDYL CARBOXYPEPTIDASE 1; DCP1
- HYPERCHOLESTEROLEMIA, FAMILIAL; FHC
- FRAGILE SITE MENTAL RETARDATION 1; FMR1
- ACIDIC EPIDIDYMAL GLYCOPROTEIN-LIKE 1; AEGL1
- ANDROGEN RECEPTOR; AR
- CALMEGIN; CLGN
- IMMOTILE CILIA SYNDROME 1; ICS1
- PARATHYROID HORMONE; PTH
- MITOCHONDRIAL CAPSULE SELENOPROTEIN; MCSP
- ACROSOME MALFORMATION OF SPERMATOZOA
- PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH
- APOLIPOPROTEIN B; APOB
- ZONA PELLUCIDA GLYCOPROTEIN 1
- SPINOCEREBELLAR ATAXIA 1; SCA1
- SOLUTE CARRIER FAMILY 6, MEMBER 10; SLC6A10
- COLLAGEN, TYPE I, ALPHA-1; COL1A1
- USHER SYNDROME, TYPE IA; USH1A
- CLEAVAGE SIGNAL-1 PROTEIN; CS1
- A DISINTEGRIN AND METALLOPROTEASE DOMAIN 3A; ADAM3A
- YOUNG SYNDROME
- VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD
- CYLICIN 1; CYCL1
- CANCER OF THE BREAST, FAMILIAL; BCS
- MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE AND BECKER TYPES
- GLIOMA PATHOGENESIS-RELATED PROTEIN
- AQUAPORIN 7; AQP7
- ACROSIN; ACR
- COLLAGEN, TYPE I, ALPHA-2; COL1A2
- ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
- TESTIS-SPECIFIC PROTEIN 1; TPX1
- TUBULIN, GAMMA; TUBG
- INFERTILITY ASSOCIATED WITH MULTI-TAILED SPERMATOZOA AND EXCESSIVE DNA
- FRIEDREICH ATAXIA 1; FRDA
- RETINOBLASTOMA; RB1
- CLUSTERIN; CLU
- PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE II, ALPHA; PRKAR2A
- MCCUNE-ALBRIGHT SYNDROME; MAS
- PROGESTAGEN-ASSOCIATED ENDOMETRIAL PROTEIN; PAEP
- VULVOVAGINITIS, ALLERGIC SEMINAL
- PHOSPHOGLYCERATE KINASE 2; PGK2
- ZONA PELLUCIDA GLYCOPROTEIN 3B; ZP3B
- CYCLIC AMP RESPONSE ELEMENT MODULATOR; CREM
- ACHONDROPLASIA; ACH
- RETINITIS PIGMENTOSA 3; RP3
- TECTORIN, ALPHA; TECTA
- FERTILE EUNUCH
- SERINE/THREONINE PROTEIN KINASE 13; STK13
- GESTATIONAL TROPHOBLASTIC DISEASE
- RETINITIS PIGMENTOSA 2; RP2
- IMMOTILE CILIA SYNDROME DUE TO DEFECTIVE RADIAL SPOKES
- SPINAL MUSCULAR ATROPHY I; SMA1
- GERMINAL CELL APLASIA
- ACIDIC EPIDIDYMAL GLYCOPROTEIN; AEG
- TECTORIN, BETA; TECTB
- ATAXIA-TELANGIECTASIA; AT
- VON WILLEBRAND DISEASE
- TRANSITION PROTEIN 2; TNP2
- TRANSITION PROTEIN 1; TNP1
- MYOSIN VIIA; MYO7A
- PSEUDOACHONDROPLASTIC DYSPLASIA
- PEM HOMEO BOX GENE, HUMAN HOMOLOG OF
- EXTRAEMBRYONIC, SPERMATOGENESIS, HOMEO BOX 1, MOUSE, HOMOLOG OF
- HEMOPHILIA A
- HEMOPHILIA B; HEMB
- PRECOCIOUS PUBERTY, MALE-LIMITED
- PRADER-WILLI SYNDROME; PWS
- FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2
- CILIARY DYSKINESIA DUE TO TRANSPOSITION OF CILIARY MICROTUBULES
- A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 11; ADAM11
- SEX-DETERMINING REGION Y; SRY
- CILIARY DISCOORDINATION DUE TO RANDOM CILIARY ORIENTATION
- GLUTAMATE DEHYDROGENASE 2
- BREAST CANCER 2, EARLY-ONSET; BRCA2
- CYCLIC NUCLEOTIDE-GATED CHANNEL, ALPHA-3; CNGA3
- TRANSCRIPTION FACTOR AP4; TFAP4
- PENTRAXIN II, NEURONAL; NPTX2
- LUTEINIZING HORMONE/CHORIOGONADOTROPIN RECEPTOR; LHCGR
- SUPEROXIDE DISMUTASE 2, MITOCHONDRIAL; SOD2
- MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, A; HLA-A
- H1 HISTONE FAMILY, MEMBER 1; H1F1
- HEXOKINASE OF SPERMATOZOA
- HYALURONIDASE DEFICIENCY
- ATAXIN 2; ATX2
- HEAT-SHOCK 70-KD PROTEIN 2; HSPA2
- ESTROGEN RECEPTOR 2; ESR2
- F9 EMBRYONIC ANTIGEN; FEA
- FOLLICLE-STIMULATING HORMONE RECEPTOR; FSHR
- A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 3B; ADAM3B
- ZONADHESIN; ZAN
- FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA
- BCL2-ASSOCIATED X PROTEIN; BAX
- EPIDERMAL GROWTH FACTOR; EGF
- ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1; EPB41
- DIAPHORASE 2; DIA2
- CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON
- CENTROMERIC PROTEIN A; CENPA
- CUT-LIKE, 1; CUTL1
- PROTEIN PHOSPHATASE 3, CATALYTIC SUBUNIT, GAMMA ISOFORM; PPP3CC
- ADULT SKELETAL MUSCLE GENE
- CYSTIC FIBROSIS; CF
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
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