The definitive resource for reliable genetics information.

Information about NCBI's involvement in NCI's CGAP collaboration.

Funded by NIH, HRSA, and DOE New Users Register Here Lost Password Return Visitors User Name Password 06/14/02 49980 Registered Users 148 Reviews 1057 Clinics 538 Laboratories testing for 936 Diseases Welcome to the GeneTestsGeneClinics Web site, a publicly funded medical genetics information resource developed for physicians, other healthcare providers, and researchers, available at no cost to ...

Welcome to the home page of the Hereditary Disease Foundation, a non-profit, basic science organization dedicated to the cure of genetic disease. 100% of all publicly donated funds is directed to the support of biomedical research.

Genes and disease provides short descriptions of inherited disorders. It is hosted by the National Center for Biotechnology Information (NCBI), a division of the National Library of Medicine (NLM) at the National Institutes of Health (NIH).

Information on genetic conditions and birth defects for professionals, educators, and individuals. Links to lay advocacy and support groups, clinics with genetic counselors and geneticists, sites for children and young adults. Maintained by Medical Genetics, University of Kansas Medical Center ...

Xeroderma Pigmentosum Society, Inc. - Not-for-profit organization to support xp patient families and promote research related to this rare, genetic disorder.

HHMI's colorful Web book describes the excitement in biomedical research as scientists discover the causes of baffling diseases: abnormal genes. Included: family studies; the Human Genome Project; how to conquer hereditary diseases like cystic fibrosis; beautiful graphics; key to basic genetics; glossary.

The Center for Inherited Disease Research (CIDR) is a centralized facility established to provide genotyping and statistical genetics services for investigators seeking to identify genes that contribute to human disease. CIDR concentrates primarily on multifactorial hereditary disease although linkage analysis of single gene disorders can also be accommodated. CIDR was established in 1996 as a ...

Your Genes, Your Health, DNA Learning Center's multimedia guide to genetic, inherited disorders: Fragile X syndrome, Marfan syndrome ...

Newsletter for health care professionals and patients interested in CPT deficiency, a rare genetic disorder of fat metabolism that causes muscle breakdown.

NDRF provides patient support, medical referral, educational material, newsletters, an online discussion forum and a research protocol database for individuals impacted with dysautonomia.

The Medical Genetics site is to supplement the Medical Genetics text book written by Jorde et. al. in medical education.

A globally focused U.S. 501 c3 organization that advocates for persons affected by Oligosaccharide Storage Diseases ...

G6PD Deficiency Web Site - offering information on the genetic, physiological, molecular and clinical aspects of G6PD deficiency, the most common enzyme deficiency in the world.

Lowe Syndrome Association Website ...

The CIDEM Laboratories are a group of inter-disciplinary, clinical diagnostic laboratories which focus on disorders of mitochondrial function that interfere with pyruvate metabolism, fatty acid oxidation, the Krebs cycle, and the electron transport chain ...

The National Foundation for Ectodermal Dysplasias (NFED) is committed to assisting people with ectodermal dysplasia to live not only normal life spans, but nearly normal life styles.

XLH Network is a patient support group for: X-Linked Hypophosphatemia (XLH), X-Linked Hypophosphatemic Rickets, Familial Hypophosphatemia, Vitamin D-Resistant Rickets.

This site was designed for the purpose of educating parents and medical professionals about what living with CAH is like. There is very little information on the psychological effects of CAH. This site will try to remedy that problem by bringing as much information to you as possible. The print is in green which is the color for hope that no other child ...

Ectodermal Dysplasia Society - a support group for people with ED ...

The official Alagille Syndrome Alliance Worldwide Web Site. This page includes extensive information about Alagille Syndrome and information on how to contact the founder and director of the Alagille Alliance, Cindy L. Hahn.

Information Forum - Mucolipidosis IV, a rare genetic disease...

Genes and disease provides short descriptions of inherited disorders. It is hosted by the National Center for Biotechnology Information (NCBI), a division of the National Library of Medicine (NLM) at the National Institutes of Health (NIH).

Hereditary Spastic Paraplegia information sheet compiled by NINDS.

Web site dedicated to the Pallister-Killian syndrome, a meeting point, a collection of link and useful information, Il sito raccoglie materiale utile per le famiglie con persone affette dalla sindrome di Pallister-Killian.

Incontinentia Pigmenti information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS).

The FSP Group provides assistance to those suffering from Familial Spastic Paraplegia (FSP).

Infantile Refsum Disease PEROXISOME BIOGENESIS DISORDERS: ZELLWEGER SYNDROME, NEONATAL ADRENOLEUKODYSTROPHY, INFANTILE REFSUM DISEASE, AND RHIZOMELIC CHONDRODYSPLASIA PUNCTATA Welcome to the Infantile Refsum Disease website. We, John Harris and Mary Stephens, are the parents of a wonderful little boy named Ian who is diagnosed with infantile Refsum disease (IRD). Ian was born in March of 1993.

This website is from the PCD Interest Group (PCD Belangengroep). On this site you can find information on Primary Ciliary Dyskinesia in Dutch and English.

John K. Fink, M.D. Associate Professor, Department of Neurology Director, Neurogenetic Disorders Clinic University of Michigan, Ann Arbor My laboratory is committed to finding the causes and developing treatments for hereditary spastic paraplegia. This information is provided for individuals with HSP, their family members, health care providers, and other investigators. Working together, we can ...

Incontinentia pigmenti is a rare, genetic disorder characterized by unusual patterns of discolored skin.

Monosomy 9P, otherwise known as Alfi's Syndrome or 9P-, is a rare chromosome anomaly. Due to its rarity, parents of children diagnosed with 9P- are usually left in the dark because so little is known. Parents are often advised that their child will likely die, or will be so severely handicapped that they should be institutionalized. Parents are left feeling isolated, fearful and alone. The good news is that this information is most often incorrect. This is where the support group comes in!

Machado-Joseph Disease fact sheet developed by the National Institute of Neurological Disorders and Stroke (NINDS).

Skip to content Search Advanced Search Site Map About MEDLINEplus Home Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk Bl-Bz C-Cg Ch-Co Cp-Cz D-Di Dj-Dz E-Ep Eq-Ez F G H-Hf Hg-Hz I-In Io-Iz J K L-Ln Lo-Lz M-Mf Mg-Mz N O P-Pl Pm-Pz Q R S-Sh Si-Sp Sq-Sz T-Tn To-Tz U V W X Y Z 0-9 Beckwith-Wiedemann syndrome Contents of this page: Illustrations Definition Causes and risks ...

Hereditary spastic paraplegia (HSP), also called familial spastic paralysis, refers to a group of genetic disorders that are characterized by progressive weakness and spasticity (stiffness) of the legs.

Dept. of Dermatology - University of Iowa College of Medicine Alagille's Syndrome / Arteriohepatic Dysplasia - Right elbow - Xanthomata For more information, see the American Liver Foundation and Online Mendelian Inheritance in Man (OMIM). Return to Image Index page. Return to Image Index page. Return to Dermatology's Home page. January, 1996 Copyright 1996 - 2002 Dept. of Dermatology / ...

Coffin Lowry Syndrome information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS) ...

Hang in there Dr. Jordan Orange Absence of proof is not a proof of absence Dr. Roberto Kretschmer I would encourage anyone to donate to this very worthy cause! Joanna Hedstrom A bone marrow transplant will save my life. ENTER Un transplante de medula sea me va a salvar la vida. ENTRAR THE ANDY CLUB THE STORE EL CLUB DE ANDY LA TIENDITA LA RIFA LA QUINIELA DEL TIO TO DONATE CLICK HERE ...

Lowe Syndrome is a rare genetic condition that causes physical and mental handicaps, and medical problems. We offer information, and give very useful links to find some of the best support groups.

Welcome to the Human Genetics Unit on the World Wide Web.

Aarskog Syndrome Who to Contact Where to Go to Chat with Others Learn More About It Web Sites Search Google for Aarskog Syndrome Who to Contact Aarskog Syndrome Parents Support Group 62 Robin Hill Lane Levittown, Pennsylvania, USA, 19055-1411 (215) 943-7131 The Aarskog Syndrome Parents Support Group's purpose is to educate the public about the features and possible delays or learning ...

BECKWITH-WIEDEMANN SYNDROME home more about us in your area conditions information index of conditions foreword acknowledgments background info. updates internet medical info. regional genetics centres hospices & respite care helpful organisations overseas organisations patterns of inheritance genetics glossary behavioural phenotypes screening immunisation publications using this site how you ...

FLOATING-HARBOR SYNDROME home more about us in your area conditions information index of conditions foreword acknowledgments background info. updates internet medical info. regional genetics centres hospices & respite care helpful organisations overseas organisations patterns of inheritance genetics glossary behavioural phenotypes screening immunisation publications using this site how you can ...

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record Syndrome DiGeorge syndrome (DGS) Synonyms DiGeorge anomaly DiGeorge sequence familial third and fourth pharyngeal pouch syndrome pharyngeal pouch syndrome third and fourth pharyngeal pouch syndrome thymic aplasia syndrome thymic and parathyroid agenesis syndrome Summary A developmental defect of derivatives of ...

Welcome to GeneTests-GeneClinics A GeneReview (formerly GeneClinics profile) that corresponds to your search term is available. For a summary of this review, see below. For full access to the review (described in the Table of Contents below) and to other sections of the Web site, register or log on at right. GeneTestsGeneClinics is free. Use of the site assumes acceptance of the Terms of Use.

Opitz G/BBB Family Connection: A group of families dedicated to sharing their experiences with others.

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record Syndrome Opitz syndrome (OS) Synonyms Opitz-Frias syndrome autosomal dominant Opitz syndrome (ADOS) BBB syndrome BBBG syndrome BBB/G syndrome BBG syndrome G syndrome GBBB syndrome G/BBB syndrome hypospadias-dysphagia syndrome hypertelorism-hypospadias syndrome oculo-genito-laryngeal syndrome ...

Web contact: pietsch@indiana.edu Bannayan-Zonana Syndrome familial macrocephaly; autosomal dominant macrocephaly: A quick survey of the 1991-1995 literature conducted at Indiana University, Bloomington, Indiana A rare disorder characterized by a large head and multiple soft tumors and associated with chromosomal abberations, possibly pair 19. For a non-technical description of B-Z syndrome see ...

Explores role of diet and nutrition in birth defects and genetic disorders.

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record Syndrome Aarskog syndrome Synonyms Aarskog-Scott syndrome (ASS) Greig syndrome facial-digital-genital syndrome facio-digito-genital syndrome facio-genital dysplasia shawl scrotum syndrome Summary Multiple limb and genital abnormalities with short stature, hypertelorism, downslanting palpebral fissures, ...

This page is dedicated to Ablepharon Macrostomia Syndrome or AMS. Information on AMS has been provided by the National Organization for Rare Disorders (NORD) and by personal experience and extensive research. AMS is an extremely rare inherited genetic disorder that is characterized by different physical abnormalities that affect the ...

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record Syndrome Beckwith-Wiedemann syndrome (BW, BWS) Synonyms Beckwith syndrome Wiedemann syndrome Wiedemann-Beckwith syndrome (WBS) Wiedemann-Beckwith-Combs syndrome exomphalos-macroglossia-gigantism (EMG) syndrome familial macroglossia-omphalocele syndrome macroglossia-omphalocele syndrome ...

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record Syndrome Coffin-Lowry syndrome (CLS) Synonyms Coffin syndrome 2 Coffin-Siris-Wegienka syndrome soft hands syndrome Summary Mental and somatic retardation in association with characteristic facies, large soft hands, and various bone abnormalities. A variant syndrome consists of growth and mental retardation, ...

ECTODERMAL DYSPLASIA home more about us in your area conditions information index of conditions foreword acknowledgments background info. updates internet medical info. regional genetics centres hospices & respite care helpful organisations overseas organisations patterns of inheritance genetics glossary behavioural phenotypes screening immunisation publications using this site how you can help ...

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record Syndrome Bloch-Sulzberger syndrome Synonyms Asboe-Hansen disease Bloch-Siemens syndrome Bloch-Sulzberger melanoblastoma Siemens-Bloch pigmented dermatosis incontinentia pigmenti (IP) incontinentia pigmenti 1 melanoblastosis cutis linearis sive systematisata melanosis corii degenerativa nevus pigmentosus ...

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record Syndrome Floating-Harbor syndrome (FHS) Synonym Pelletier-Leisti syndrome Summary A triad of short stature, speech and psychomotor development delay, and facial anomalies. The original cases were reported at the Boston Floating Hospital and Harbor General Hospital, Torrance, California, hence the name ...

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record Syndrome Lowe syndrome (LS) Synonyms Lowe-Terrey-MacLachlan syndrome oculocerebrorenal (OCR, OCRL) syndrome Summary A syndrome of congenital cataracts, hydrophthalmia, delayed growth and mental development, vitamin D-resistant rickets, aminoaciduria, and reduced production of ammonia by the kidneys. Additional ...

International Joseph Diseases Foundation (IJDF) is a non-profit charitable corporation formed in 1977. Our mission is to locate individuals and families, worldwide, who may be afflicted with Machado Joseph-Disease (MJD). We offer education, medical referrals, up-dates, and support to all interested individuals.

EMedicine features up-to-date, searchable, peer-reviewed medical journals, online physician reference textbooks, and a full-text article database in 62 medical specialties. This largest and most current Internet medical library and clinical knowledge base is available to physicians, medical students, nurses, and other health professionals free of charge.