Clinical Genetics Computer Resources

Created October 1995, sections last revised Cannot perform flastmod(): Win32 Error Code = 87

1995-2002 Debra Collins, M.S., CGC, Genetic Counselor, Genetics Education Center, University of Kansas Medical Center, 3901 Rainbow Boulevard, Kansas City, KS 66160-7318

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Diagnostic Programs | Pedigree Drawing | Teratogens | Other Sites | Databases | Professional | Education | Internet Health References | Genetic Conditions

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I. Genetics Information for Professionals
A. Clinical Genetics Information:
B. National Society of Genetic Counselors:
C. American Society of Human Genetics:
D. Genetic / Rare Conditions Support Groups:

II. Diagnostic and Information Services, Software, Programs

A. Online Mendelian Inheritance in Man (OMIM) - human genes and genetic disorders authored and edited by Dr. Victor A. McKusick and colleagues, Johns Hopkins University. Entries include general description, phenotype,  clinical features, biochemistry, and genotype, mode of inheritance, diagnosis, management, molecular genetics, references, clinical synopsis, pictures, and date edited.
Available on CD-ROM, PC-GDB for MS Windows - Ray Duncan, Cedars-Sinai Medical Center, Los Angeles, CA, distributed by GDB.
B. Genomic Databases, Johns Hopkins University, 2024 E. Monument St., Baltimore, MD 21205 Voice:(410)955-9705 Fax:(410)614-0434 E-mail: or or submit data at The Human Genome Data Base (GDB) - Human gene mapping information: loci, probes, citations, cell lines, maps, polymorphisms, mutations., mirror sites
Australia, Belgium, China, France, Germany, Israel, Italy, Japan, The Netherlands, Sweden, Taiwan, United Kingdom
C. Oxford Medical Databases (OMD), Oxford University Press. Databases and CD-ROMs (2000 version 2.2), Robin Winter & Michael Baraitser, Electronic Publishing, Oxford University Press, 200 Madison Avenue, New York, NY 10016. Voice: (212) 726-6000 Fax: (212) 725-2972, UK: 395-495
1. London Dysmorphology Database (LDDB) ver 2.2, >3,230 non-chromosomal, multiple congenital anomaly syndromes with references
2. London Neurogenetics Database ver 2.2, >2,950 syndromes involving central and peripheral nervous system, references. Clinical neurological features, neuroradiology, neurophysiology, and neuropathology including nerve and muscle biopsy findings
3. Human Cytogenetics Database, Albert Schinzel, clinical and cytogenetic data related to 1,200 chromosome aneuploidies, references
4. Dysmorphology Photo Library ver 2.2 - CD-ROM used with London Dysmorphology Database or London Neurogenetics Database. ~11,230 clinical photographs illustrate syndromes in dysmorphology / neurogenetics databases
OMD Databases reviewed, 1997, American Journal of Human Genetics 61(6):1462-1463
D. POSSUM (Pictures of Standard Syndromes and Undiagnosed Malformations) Version 5.1, Dr. Agnes Bankier and John Marquet ~$1000, The Murdoch Institute for Research into Birth Defects, P.O. Box 1100 Parkville 3052 Melbourne, Victoria AUSTRALIA Voice: (613) 8341 6201 Fax: (613) 348-1391 ACN: (006) 566-972
1. CD-ROM for Windows 95, Windows NT or Macintosh
2. Links to Internet - OMIM
3. Incorporates OSSUM 2.0 (Skeletal dysplasias)
4. Includes chromosome aneuploidy
5. POSSUM and PLATYPUS Databases, Ron Davidson, MD, FRCPC, 132 Cline Avenue North Hamilton, Ontario Canada L85 3Z8 Voice:(905)525-4183 Fax:(905)525-4183 E-mail:
E. Chromosome Databases, Digamber S. Borgaonkar,Ph.D., Laboratory of Neurogenetics, NIA/NIH, Bldg. 10,6C103, Bethesda, MD 20892, 301-451-6085,
1.Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies, book, online database, Literature citations on common and rare chromosomal alterations, phenotypes and abnormalities in humans. Database of over 20,000 entries, organized by variations and anomalies, numerical anomalies, and chromosomal breakage syndromes. Includes new banding techniques, spectral karyotyping of chromosome, FISH, UPD, and PRINS.
2. Repository / Registry Database: "Repository of Human Chromosomal Variants and Anomalies: An International Registry of Abnormal Karyotypes" from international cytogeneticists' contributions
F. GeneClinics: Medical Genetics Knowledge Base (formerly Genline) - GeneReviews, clinical descriptions, diagnosis criteria, genetic testing, management issues, counseling issues, genetic support group links, clinic directory, educational materials . Web site tel: 206-221-4674. fax: 206-221-4679. Nothgate Executive Center II, Suite 610, 9725 Third Avenue NE, Seattle WA 98115. Complements GeneTests: Directory of Medical Genetics Laboratories. Funding from NLM and NHGRI, National Institutes of Health (NIH), Health Resources and Services Administration, US Department of Energy
G. GeneTests: Directory of Medical Genetics Laboratories (formerly HELIX). An international directory of laboratories performing clinical and research testing for inherited diseases. Over 550 conditions, 300+ labs. Health care professionals must register to use this private database. Roberta Pagon, M.D. and Maxine Covington, Children's Hospital and Medical Center, PO Box 5371, CH-94, 4800 Sand Point Way NE, Seattle, WA 98105-0371. Funded by NLB and MCHB. Voice: 206-527-5742 Fax:206-527-5743 E-mail:
Web site:
, Educational materials about genetic tests, testing principles and genetic counseling in patient care
H. NeurometPLUS (Neurometabolic Disorders and Other Hereditary Neuropediatric Diseases) - database searchable by age of onset, symptoms, signs, and laboratory data. Diagnosis, information, management, differential diagnosis for over 120 conditions. Updated every 6 months. By pediatric neurologist. Demo available. Lemar Publishers 1-800-483-3223, 956-631-7715, fax 956-687-4878. Ref: Garcia, L. Neurometabolic disorders: a diagnostic approach. Internat. Pediatr (12):3, pp164-171, 1997
I. Breast Cancer Assessment Tool, National Cancer Institute

J. Calculate probability of a HNPCC mutation based on average age of diagnosis of colon cancer, if endometrial cancer is present, and if Amsterdam criteria are met. (unzip the file with unzip software)

K. BIOSIS GenRef on CD (plants, animals, human, microorganisms) 2100 Arch St., Philadelphia, PA 19103-9854, (800) 523-4806 or (215) 587-4847, Fax (215) 587-2016, E-mail:, URL: in human genetics, references Genetic Counselling and American Journal of Human Genetics

L. GENINFER, to assist genetic counselors in evaluating the risk of recurrence of genetic disorders based on the analysis of family pedigrees.

M. SynDiag (Syndrome Diagnosis) ~$600, free demo   Helena Ilyina, DM. and Stanislav Kolosov, PhD, Belorussian Institute for Hereditary Diseases, Minsk, Belarus, Phone: (375-17) 213-05-15, 258-13-42, Fax: (375-17) 237-85-13, e-mail: kolosov@gw.bsuir.unibel .by or For diagnosing MCA/MR syndromes of different etiology (monogenic, chromosomal, teratogenic, etc.), ectodermal / skeletal dysplasias, systemic complexes. Includes 1) ~1600 minor / major malformations and dysplasias, functional, laboratory and roentgenologic data; 2) syndrome pattern library (~ 2200 nosologic forms), clinical images, references; 3) photo library ~700 photos

N. Search by signs (formerly GENDIAG), ORPHANET, for dysmorphic syndromes and not for the entire set of rare diseases. Database created in 1996, information on 1,150 rare diseases and orphan drugs, each with text written by expert, links to current research, diagnostic laboratories, support groups, outpatient clinics, orphan drugs. Services in France, Germany, Belgium, Italy and Switzerland

O. Jablonski's Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes Database, National Library of Medicine (NLM), database of structured descriptions of congenital abnormalities associated with mental retardation, © Copyright 1999

III. Pedigree Drawing Programs

A. Cyrillic , now FamilyGenetix, AP Benson, (Windows - IBM version 2.0) ~$500 - $600, Cherwell Scientific Publishing, The Magdalen Centre, Oxford Science Park, Oxford, ENGLAND OX4 4GA Voice: +44(0)865-784800 Fax:+44(0)865-784801 E-mail:, US Voice:(415)852-0720 US Fax:(415)852-0723 e-mail:
URL: or includes downloadable demos, subscribe to free discussion group.
B. Progeny - (Windows or Mac version) ~$900 pedigree drawing program that allows you to store data in a relational database. URL:
Genetic Data Systems, 4702 Lincolnway E. Ste. 200, Mishawaka, IN 46544, (219) 257-4000, fax (219) 257-9373, e-mail:
C. Genetics Pedigree Database, G. Bradley Schaefer, M.D., Omaha, NE,
D. KINDRED (DOS) or GAP - $475 demo disk available. Pedigree drawing / data management. Epicenter Software, P.O. Box 90073, Pasadena, CA 91109. Voice:(818)304-9487 Fax:(818)449-0437 URL:
E. FTP FTREE-V4 - Rodney C.P. Go, Ph.D., University of Alabama Birmingham, Department of Epidemiology and International Health, Ryals Building, Room 230N, Birmingham, AL 35294-0022. Voice:(205) 934-6107, FTP site: EPI2.SOPH.UAB.EDU. Remote site directory PI:\PUB\DOWNLOAD. Download to your site two files FTREEV4.TXT and FTREEV4.ZIP. All necessary files are in zip file created by shareware version of PKZIP
F. Pedigree / Draw, formerly PedDraw (Macintosh - Apple) ~$45 Population Genetics Laboratory, Department of Genetics, P.O. Box 28147, Southwest Foundation for Biomedical Research, San Antonio, TX, other software
G. GeneWeaver, Medical Genogram Report,, 714-970-7040 (Pacific Time)
H. CompuPed Pedigree Program - genetic database / pedigree program developed for animal research
I. Ped 4.2 - pedigree drawing program, can include clinical, laboratory, and molecular data URL:, Hansjoerg Plendl,  (updated May 2000)
J. Roots V, formerly CommSoft, Inc., Windsor, CA (800) 327-6687 . ~$40 Genealogy professional software to document family history
K. Genealogy sites and pedigree software:
  1. Mark and Cyndi Howells Family Tree site  14,000+ resources, index 60 categories
  2. Sample Pedigree Form, Elaine Johnson
  3. Family Origins, Parsons Technology
  4. Family Tree Maker software, Broderbund

L. Pedigree software reviews

M. GenoSketch - Windows 95 or Windows NT program to draw single-page pedigrees / genograms with standard nomenclature of the Pedigree Standardization Task Pedigree Standardization Task Force, Am. J. Hum. Genet. 1995, 56:745-752, Alan Farmer

N. TreeBuilder, Genetic Health, requires sign-in,

O. Tools for taking a Family History

IV. Teratogen Services

A. REPROTOX Reproductive Hazard Information, Environmental Impact of Human Reproduction and Development. Developed in 1980's, updated regularly.   URL: Impact of physical and chemical environment on human reproduction and development. All aspects of reproduction including fertility, male exposures, lactation, reproductive influence of industrial and environmental chemicals; prescription; over-the-counter, and recreational drugs; and nutritional agents. Reproductive Toxicology Center, Columbia Hospital for Women Medical Center, 2440 M St.NW, Suite 217, Washington, DC 20037-1404 Voice: (202) 293-5138 Fax: (202) 778-6199
B. REPRORISK® - Micro Medics, 600 Grant Street, Denver CO 80111 Voice: (800) 525-9083. CD-ROM collection of reproductive risk information databases, helps professionals evaluate reproductive risks of drugs, chemicals, and physical and environmental agents on males, females, and unborn children. Includes the REPROTEXT® and REPROTOX® Systems, Shepard's Catalog of Teratogenic Agents and TERIS Teratogen Information System.
URL:, Drug Infomation, Micro Medex REPRORISK system comprises four databases - REPROTOX®, REPROTEXT®, TERIS, and Shepard's Catalog (fact sheet, pdf) REPROTEXT® - first released in 1990, database on acute and chronic exposure to over 600 industrial chemicals and physical agents and their carcinogenic, genetic, and reproductive effects.
C.TERIS (Teratogen Information System) - Yearly subscription ~$1000 University of Washington, TERIS PROJECT, WJ-10, Box 38, Seattle, WA 98195 URL:
1. Current information on teratogenic effects of >700 drugs and environmental agents. Agent summaries, from literature review, rate reproductive risk and explain data used to arrive at ratings.
2. Agent summaries retrieved by domestic, international, generic and proprietary names
3. On SilverPlatter at some Medical Centers

D. TOXNET Toxicology Data Network, National Library of Medicine,
E. Organization of Teratology Information Services (OTIS), Includes fact sheets
F. Physicians' Desk Reference (PDR) -
G. AED Pregnancy Registry (Antiepileptic Drug Pregnancy Registry), risks associated with different AEDs -- old and new-- so appropriate counseling can be given to pregnant women. Registry, Flyers/Fact Sheets (English, Spanish, French), Patient Cards, Slides, Updates

H. California Teratogen Information Services, Mexican medications, cross-reference, spanish speaking counselors. Genetic Counselors (only) can call 619.543.2128. General population 619.543.3121

I. Breastfeeding Pharmacology, TW Hale, R.Ph. Ph.D., Texas Tech University School of Medicine also Clinical Therapy in Breastfeeding Patients
J. ORPHANET, database created in 1996, information on rare diseases and orphan drugs. Information on >1,150 rare diseases, each with text written by expert, with links to current research, diagnostic laboratories, support groups, outpatient clinics, orphan drugs. Services in France, Germany, Belgium, Italy and Switzerland.
K. Teratogens Information

V. Other Genetic Internet Information

Breastca 1.0, Cancer Resources:GAIL and Claus models, free software available for the Palm operating system. Claus model calculates age related risk for the patient. (if the patient is 50, it calculates their empirical risk of developing breast cancer from the age of 50 to 79. (not age 0 to 79). (scroll to PDA section, click on palm, search for "breast" for Breastca 1.0, download and install to palm PDA (palmpilot, handspring visor, Sony PDA etc.)
CancerNet (OncoLink, cancer - L, patient, physician information, etc) E-mail: URL:
CHID (Combined Health Information Database) bibliographic database, federal health-related agencies,education resources for health professionals, health educators, patients, the public. BRS Online, Attn: CHID Database, 8000 Westpark Drive, McLean, VA 22101 Voice:(800)955-0906. Planned: Human genetics and gene therapy information, written materials & citations, community resources (voluntary organizations/ support groups)
CORN (Council of Regional [Genetic] Networks) NO LONGER ACTIVE
1. Great Plains Genetics Service Network, teratogen information, nursing curricula, spina bifida curricula, Native American genetics curricula, etc. Bradley Schaefer, MD, University of Nebraska Medical Center, Meyer Rehabilitation Institute, 600 South 42nd, Omaha, NE 68198-5440. Voice:(402) 559-5070 Fax:(402)559-7248
2. SERGG Chromosome Database - structural chromosome anomalies database. FPArena, M.D., Ph.D., Univ Miami School of Medicine, Depart Pediatrics, Division of Genetics, P.O. Box 016820 (D-820), Miami, FL 33101-6820. Voice:(305)547-6048 Fax:(305)547-3919
Chromosome empiric risk calculations - inherited balanced autosomal translocations, risk for offspring, miscarriage, unbalanced fetus, based on database of cases. Carolyn Trunca, Ph.D., Genetics Center, 48 Rt. 25A, Suite 205, Smithtown, NY 631.862.3620, FAX 631.862.3622
Dermatology Laboratory Tests / Protocols, University of Rochester,
Grant Information -  private & government proposals (RFP's) or NIH
Dysmorphology Discussion Board
Familial Cancer Database, UICC Cancer, the Netherlands - suggests syndrome(s) from clinical features, syndrome summareis, references, cancer syndromes on chromosomes / genes
The Family Village, L Rowley, Project Coordinator, 549 Waisman Center, 1500 Highland Avenue, Madison, WI 53705-2280. Voice:(608)263-5973, E-mail: URL:
Genetic / Rare Conditions Support Groups

Genetic Alliance (formerly Alliance of Genetic Support Groups), Web site:

Genetic Teaching Resources, Debra L. Collins, M.S., Genetics Education Center, University of Kansas Medical Center, 3901 Rainbow Blvd., 4023 Wescoe, Kansas City, KS 66160-7318. Voice:(913) 588-6043 Fax:(913) 588-4060 E-mail: Web site:

Heredity Hearing Impairment Resource Registry (NIDCD HHIRR) Boys and Girls Town, National Research Hospital, Omaha NE 68131 Voice:(402)498-6612 or (800)320-1171
Human Cytogenetics Forum (HC Forum), France, calculates recurrence risks for specific translocations, generates schematic for counseling. Password protected site, contact coordinator, Dr. Olivier Cohen,, for access. Does not calculate X-chromosome / autosome chromosome translocations
Human Genome Program, Department of Energy (DOE)  
NHGRI (National Human Genome Research Institute)   Office of Science Education and Outreach (OSEO)
LISTSERV / Mailing lists
1. Genetic Counseling LISTSERV (available to National Society of Genetic Counselor members, January 1997) Contact NSGC to subscribe
2. CLINGEN-L Clinical Genetics Mailing List for medical professionals. To subscribe, send the message "subscribe CLINGEN-L [your name]" to
4.GENETICS Mailing List, open to everyone interested in clinical human genetics. To subscribe, send a message explaining your interest to
5. HUM-MOLGEN Mailing List for clinicians, geneticists, molecular biologists, students and other individuals interested in molecular genetics
6. METAB-L Mailing List, for Inborn Errors of Metabolism professionals (physicians, biochemists and scientists only). To subscribe, send the message "subscribe metab-l [your email-address]" to
7. METABOLISM Mailing List for pediatric metabolic disease professionals (European emphasis). To subscribe, send the message "subscribe metabolism" to
8. SKELDYS Mailing List, an unmoderated mailing list for Skeletal Dysplasia specialists, sponsored by the International Skeletal Dysplasia Registry at Cedars-Sinai Medical Center, Los Angeles, CA. To subscribe, send the message " subscribe skeldys [your e-mail address]" to
March of Dimes Resource Center, pre-pregnancy, pregnancy, birth defects, genetics, drugs and environmental hazards during pregnancy, other

Merck Manual:  General Genetics Inheritance of Single-Gene Defects Multifactorial Inheritance Nontraditional Inheritance Chromosomal Disorders Mitochondrial DNA Abnormalities Cancer Genetics Immunogenetics, Forensic Genetics, Genetic Therapy Congenital Anomalies Prenatal Evaluation and Counseling pedigree symbols pharmacogenetics other

Mothers United for Moral Support (MUMS) 150 Custer Ct., Green Bay, WI 54301 (414) 336-5333

National Health Information Center (NHIC)

National Center For Education In Maternal And Child Health (NCEMCH), Information Services, 2000 15th Street North, Suite 701, Arlington, VA 22201-2617. Voice:(703)524-7802 Fax:(703)524-9335,,

National Information Center For Children And Youth With Disabilities (NICHCY), P.O. Box 1492, Washington D.C. 20013-1492 Voice:(202)884-8200 Fax:(202)884-8441 URL:

National Library of Medicine (NLM), MEDLINE, Lister Hill National Center for Biomedical Communications, 8600 Rockville Pike, Building 38A, Room 707, Bethesda, MD 20894 Voice:(301)496-4441 Fax:(301)402-0118,  Search MEDLINE and other NLM files & journals free

2. GenBank (National Center for Biotechnology Information - NLM & NIH division)
a. URL:
b. CD-ROM version of Entrez (Windows, MAC) system, subset of MEDLINE, $102/year (discs) e-mail:
3. HSTAT (Health Services Technology Assessment Texts)- practice guidelines, reference guides, consumer brochures, reports,
NORD (National Organization For Rare Disorders, Inc.), P.O. Box 8923, New Fairfield, CT 06812-1783, Voice:(800)999-6673 or Joy E. Yacolucci, Research Voice:(203)746-6518 TDD:(203)746-6729 Fax:(203)746-6481

Office of Rare Diseases (ORD), National Institutes Of Health, 31 Center Drive, MSC 2082, Room 1B03, Bethesda, Maryland 20892-2082, Telephone: 301-402-4336, Fax: 301-402-0420, E-mail:, web site:

Parents Helping Parents and Parent To Parent Of Georgia, Inc., 2939 Flowers Road, South Suite 131, Atlanta, GA 30341 Voice: (404)451-5484 URL:
Primer on Molecular Genetics, DOE
PubMed / Entrez - gene sequencing, MEDLINE related subset, abstracts on topics.

Other National and International Organizations information on genetic conditions

VI. Other Resources and Private Databases (some not online)

A. Birth Disorder Information Directory
B.  Catalog of Multilingual Patient Education Materials, Genetic and Related Maternal / Child Health Topics, Gisela Rodriquez & Andrea DeVico, Center for Human & Molecular Genetics, New Jersey Medical School, 90 Berge St., Suite 5400, Newark, NJ 07103-2499 Voice:(201)982-3300 Fax:(201)982-3310 E-mail: or, order form (.txt) or (.pdf)
C. California Genetics Education Resource Center, Kathleen Velazquez, MPH, Genetics Disease Branch, California Department of Health Sciences, 2151 Berkeley Way, Annex 4, Berkeley, CA 94704. Voice:(510)540-2696

D. Metabolic Information Network (MIN), Susan G. Mize, P.O. Box 670847, Dallas, TX 75367-0847, Phone: 214.696.2188, 800.945.2188, data on inborn errors of metabolism, for professionals, research investigators, patients seeking access to treatment. Case register of 86 diagnoses, physician directory for 200 inborn errors of metabolism, listing of world-wide metabolic patient registries and patient databases

E. Gallaudet University Research Institute, Genetic Studies of Non-Syndromic Deafness, Early Onset Deafness, Washington, DC 20002
F. Michigan Human Genetics Videotape Lending Library, Michigan Dept Public Health-CSHCS, Lansing, MI 48909, 517.335.8887
G. Rare Disorder Network, General Clinical Research Centers (GCRC), Core Laboratories, Thomas L. Davis, MD, Director, AA 3223, Medical Center North, Vanderbilt University Medical Center, Nashville, TN 37232-2195. Voice:(800) 428-6626 Fax:(613) 343-0124
H. Sensory Genetics/Neuro-Development Vision Screening Project, SLHDavenport, MD, Bloomington, MN 55437-1739, 612.831.5522
I. Shodair Hospital Family Resource Library, SHolt, AHIP, PO Box 5539, Helena MT 59604, 406.444.7534

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VII. Internet Information References

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Suggestions Welcome

Genetics Education Center
University of Kansas Medical Center
3901 Rainbow Blvd., 4023 Wescoe Pavilion
Kansas City, KS 66160-7318
FAX: (913) 588-4060

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Link that takes you to the Genetic Support Groups  Link that takes you to the Genetic Professional Home Page  Link that takes you to the Genetics Education Center Home

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Genetics Education Center
University of Kansas Medical Center © 1995-2012
Debra Collins, M.S. CGC, Genetic Counselor,


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