OMIM References: Difference between revisions
From Embryology
| Line 176: | Line 176: | ||
=== Cardiovascular === | === Cardiovascular === | ||
* [http:// | |||
* [http:// | ====Tetralogy of Fallot==== | ||
* [http:// | |||
* [http:// | * [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=187500 TETRALOGY OF FALLOT] | ||
* [http:// | * [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=239711 HYPERTELORISM AND TETRALOGY OF FALLOT] | ||
* [http:// | * [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=187501 TETRALOGY OF FALLOT AND GLAUCOMA] | ||
* [http:// | * [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601127 FALLOT COMPLEX WITH SEVERE MENTAL AND GROWTH RETARDATION] | ||
* [http:// | * [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188400 DIGEORGE SYNDROME; DGS] | ||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192430 VELOCARDIOFACIAL SYNDROME] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179613 RECOMBINANT CHROMOSOME 8 SYNDROME] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217095 CONOTRUNCAL HEART MALFORMATIONS; CTHM] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=163950 NOONAN SYNDROME 1; NS1] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=115470 CAT EYE SYNDROME; CES] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134820 FIBRINOGEN, A ALPHA POLYPEPTIDE; FGA] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136760 FRONTONASAL DYSPLASIA] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601348 ECTRODACTYLY OF LOWER LIMBS, CONGENITAL HEART DEFECT, AND MICROGNATHIA] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147920 KABUKI SYNDROME] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107600 APLASIA CUTIS CONGENITA] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=250620 METHACRYLICACIDURIA] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=211750 C SYNDROME] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=154400 ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=270400 SMITH-LEMLI-OPITZ SYNDROME, TYPE I] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=274000 THROMBOCYTOPENIA--ABSENT RADIUS SYNDROME] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=145410 HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125520 DEPRESSOR ANGULI ORIS MUSCLE, HYPOPLASIA OF] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118450 ALAGILLE SYNDROME; AGS] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=214800 CHOANAL ATRESIA, POSTERIOR; PCA] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=280000 ZUNICH NEUROECTODERMAL SYNDROME] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309350 MELNICK-NEEDLES OSTEODYSPLASTY] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600001 PANCREATIC HYPOPLASIA, CONGENITAL, WITH DIABETES MELLITUS AND CONGENITAL HEART DISEASE] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600309 ATRIOVENTRICULAR SEPTAL DEFECT; AVSD] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600584 CARDIAC-SPECIFIC HOMEO BOX; CSX] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227255 FACIAL DYSMORPHISM WITH MULTIPLE MALFORMATIONS] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162660 NEUROTROPHIN 3; NTF3] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600123 ATRIOVENTRICULAR SEPTAL DEFECT WITH BLEPHAROPHIMOSIS AND ANAL AND RADIAL DEFECTS] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=216340 CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601322 PORENCEPHALY, CEREBELLAR HYPOPLASIA, AND INTERNAL MALFORMATIONS] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601920 JAGGED 1; JAG1] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=166780 OTOFACIOCERVICAL SYNDROME] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602249 PROGEROID FACIAL APPEARANCE WITH HAND ANOMALIES] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603530 LIGHT FIXATION SEIZURE SYNDROME] | |||
== 1999 OMIM Pages == | == 1999 OMIM Pages == | ||
Revision as of 10:49, 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
- TETRALOGY OF FALLOT
- HYPERTELORISM AND TETRALOGY OF FALLOT
- TETRALOGY OF FALLOT AND GLAUCOMA
- FALLOT COMPLEX WITH SEVERE MENTAL AND GROWTH RETARDATION
- DIGEORGE SYNDROME; DGS
- VELOCARDIOFACIAL SYNDROME
- RECOMBINANT CHROMOSOME 8 SYNDROME
- CONOTRUNCAL HEART MALFORMATIONS; CTHM
- NOONAN SYNDROME 1; NS1
- CAT EYE SYNDROME; CES
- FIBRINOGEN, A ALPHA POLYPEPTIDE; FGA
- FRONTONASAL DYSPLASIA
- ECTRODACTYLY OF LOWER LIMBS, CONGENITAL HEART DEFECT, AND MICROGNATHIA
- KABUKI SYNDROME
- APLASIA CUTIS CONGENITA
- METHACRYLICACIDURIA
- C SYNDROME
- ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1
- SMITH-LEMLI-OPITZ SYNDROME, TYPE I
- THROMBOCYTOPENIA--ABSENT RADIUS SYNDROME
- HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS
- DEPRESSOR ANGULI ORIS MUSCLE, HYPOPLASIA OF
- ALAGILLE SYNDROME; AGS
- CHOANAL ATRESIA, POSTERIOR; PCA
- ZUNICH NEUROECTODERMAL SYNDROME
- MELNICK-NEEDLES OSTEODYSPLASTY
- PANCREATIC HYPOPLASIA, CONGENITAL, WITH DIABETES MELLITUS AND CONGENITAL HEART DISEASE
- ATRIOVENTRICULAR SEPTAL DEFECT; AVSD
- CARDIAC-SPECIFIC HOMEO BOX; CSX
- FACIAL DYSMORPHISM WITH MULTIPLE MALFORMATIONS
- NEUROTROPHIN 3; NTF3
- ATRIOVENTRICULAR SEPTAL DEFECT WITH BLEPHAROPHIMOSIS AND ANAL AND RADIAL DEFECTS
- CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA
- PORENCEPHALY, CEREBELLAR HYPOPLASIA, AND INTERNAL MALFORMATIONS
- JAGGED 1; JAG1
- OTOFACIOCERVICAL SYNDROME
- PROGEROID FACIAL APPEARANCE WITH HAND ANOMALIES
- LIGHT FIXATION SEIZURE SYNDROME
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
