Select Entries From OMIM -- Online Mendelian Inheritance In Man CRYPTOPHTHALMOS WITH OTHER MALFORMATIONS *123570 CRYPTOPHTHALMOS, UNILATERAL OR BILATERAL,ISOLATED 200110 ablepharonmacrostomia syndrome *206900 ANOPHTHALMOS http://anatomy.med.unsw.edu.au/cbl/embryo/OMIMfind/eye/cryptophthalmos.htm
Last Updated 18.12.2001 genes; ablepharonmacrostomia syndrome; Alleles of the KIR2DL4 receptorand their lack of association with pre-eclampsia; Association http://www.rusmedserv.com/genetics/review/rev1812.htm
Extractions: A genomic map of a 6-Mb region at 13q21-q22 implicated in cancer development-identification and characterization of candidate genes Ablepharon-macrostomia syndrome Alleles of the KIR2DL4 receptor and their lack of association with pre-eclampsia Association analysis of polymorphisms at the interleukin-1 locus in essential hypertension ... Quantification of single nucleotide polymorphisms. A novel method that combines primer extension assay and capillary electrophoresis
Rare Disorders In Health > Conditions And Diseases Hardcover. Top categories Aarskog Syndrome@ (6); Aase Syndrome@ (3);Abetalipoproteinemia@ (5); ablepharonmacrostomia syndrome@ (4); http://ilectric.com/browse/web/Health/Conditions_and_Diseases/Rare_Disorders/
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DINO - Language: Englisch - Health - Conditions And Diseases - A Dieser Link verweist auf eine HauptKategorie Abetalipoproteinemia Dieser Link verweistauf eine Haupt-Kategorie ablepharon-macrostomia syndrome Dieser Link http://www.dino-online.de/dino_page_962b3613efa824c8055b17d0f8c114e0.html
Ablepharon Macrostomia Syndrome A personal site with information and links about this disease.Category Health Conditions and DiseasesAblepharon Macrostomia syndrome. This page is dedicated to AblepharonMacrostomia syndrome or AMS. Information on AMS has been provided http://www.angelfire.com/ga2/AMS/
Extractions: Ablepharon Macrostomia Syndrome is an extremely rare inherited genetic disorder that is characterized by different physical abnormalities that affect the head and facial areas, skin, fingers, and the genitalia. The people affected by AMS may also have malformations of the nipples and the abdominal wall. Some of the characteristics of AMS are: lack of or under-developed eyelids(Ablepharon), absence of eyelashes and eyebrows, wide fish-like mouths(Macrostomia), and/or incompletely developed, low set ears. Eye abnormalities may occur due to the ablepharon. People with AMS can also have abnormally sparse, thin hair; coarse, dry, thickened skin with excessive folds. They may have webbed fingers with limited extension of the fingers and may have malformations of the external genitalia. In some cases of AMS, the individual has absent or very small nipples and/or protrusion of portions of the large intestine through an opening in the abdominal wall (abdominal or ventral hernia)
NORD - National Organization For Rare Disorders, Inc. Ablepharon Macrostomia syndrome. To purchase fulltext report ($7.50) Copyright1997, 2001, 2002 Synonyms of Ablepharon Macrostomia syndrome AMS. http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Ablepharon Ma
NORD - National Organization For Rare Disorders, Inc. syndrome) AIDS Dysmorphic syndrome APECED syndrome Aarskog syndrome Aase syndromeAblepharon Macrostomia syndrome Acanthocheilonemiasis Acanthocytosis http://www.rarediseases.org/search/rdblist.html
MSN Health - Ablepharon Macrostomia syndrome Important It is possible that the main title ofthe report Ablepharon Macrostomia syndrome is not the name you expected. http://content.health.msn.com/NR/internal.asp?GUID={750E6FB0-4B7E-4CBE-89F1-A7A2
Service Page - Pathologie Information DISEASE Ablepharon macrostomia syndrome, CIM Q87.0, MIM 200110, Sign(s)of the disease (54), Other website(s) (2), Outpatient clinic(s). http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=920
Extractions: HOME Aagenaes Syndrome (Cholestasis-Lymphedema Syndrome) Aarskog (Scott) Syndrome (Faciodigitogenital Syndrome, Faciogenital Dysplasia) Aarskog-Like Syndrome (Faciodigitogenital Syndrome, Recessive Form; Teebi Naguib Alawadi Syndrome) Aarskog Ose Pande Syndrome (Lipodystrophy Rieger Anomaly Diabetes) AASE Syndrome (Anemia with Triphalangeal Thumbs) AASE Smith Syndrome (Hydrocephalus with Cleft Palate and Joint Contractures) ABCD Syndrome (Albinism, Black Lock, Cell Migration Disorder of the Neurocytes of the Gut, and Deafness) Abdallat Davis Farrage Syndrome (Neurocutaneous Syndrome, Abdallat Type; Spastic Paraplegia-Pigmentary Abnormalities) Abdominal Muscle Absence/Aplasia/Deficiency/Defect Anomalad/Syndrome Abetalipoproteinemia (Bassen Kornzweig Syndrome) Ablepharon -Macrostomia Syndrome Allison has AMS (Has a photo gallery)
Birth Disorder Information Directory - BA-BL BaBl. BK Mole syndrome See Melanoma, Familial/Cutaneous Malignant Type. Badersyndrome (Odontomatosis Aortae Oesophagus Stenosis, Odontoma Dysphagia syndrome) http://www.bdid.com/defectba.htm
Extractions: HOME B-K Mole Syndrome Bader Syndrome (Odontomatosis Aortae Oesophagus Stenosis, Odontoma Dysphagia Syndrome) BADS Syndrome Baelz Syndrome (Cheilitis Glandularis) Bagatelle Cassidy Syndrome (Macrocephaly Short Limbs Deafness) Bahemuka Brown Syndrome (Spastic Paraplegia Facial Cutaneous Lesions) Baker Vinters Syndrome (Hydrocephalus Craniosynostosis Bifid Nose) Ballard Syndrome (Brachydactyly, Combined B and E Types; Pitt Williams Brachydactyly) Baller Gerold Syndrome Ballinger Wallace Syndrome (Diabetes-Deafness Syndrome, Maternally Transmitted; Diabetes Mellitus, Noninsulin-Dependent/Type II, with Deafness) Bamboo Hair Syndrome Bamforth Syndrome (Hypothyroidism, Athyroidal, with Spiky Hair and Cleft Palate)
Mioti: Medical Condition Condition Ablepharon Macrostomia syndrome. NORD Ablepharon Macrostomiasyndrome. Information from the National Organization for Rare Disorders. http://www.mioti.com/cat/condition/condition.asp?Cat=AblepharonMacro
Listings Of The World Health Conditions And Diseases Genetic Ablepharon Macrostomia syndrome is an extremely rare inherited genetic disorder thatis characterized by different physical abnormalities that affect the head http://listingsworld.com/Health/Conditions_and_Diseases/Genetic_Disorders/Ableph
Medicalseek - Search Engine For The Healthcare Industry Category Aarskog syndrome Category Aase syndrome Category AblepharonMacrostomiasyndrome Category Alagille syndrome Category Alkaptonuria Category Alpha-1 http://www.medicalseek.net/Conditions_and_Diseases_Genetic_Disorders.html
Rare Diseases List - Office Of Rare Diseases email GARDinfo@nih.gov. Disease Ablepharon macrostomia syndrome.Synonyms AMS. Disease Information. OMIM Logo, The OMIM database http://ord.aspensys.com/diseaseinfo.asp?ID=3
Rare Diseases List - Office Of Rare Diseases Aberrant subclavian artery. Ablepharon macrostomia syndrome. Ablutophobia. Abnormalsystemic venous return. Abruzzo Erickson syndrome. Absence of Gluteal muscle. http://ord.aspensys.com/diseases.asp
Extractions: An orphan or rare disease is generally considered to have a prevalence of less than 200,000 affected individuals in the USA. Certain diseases with more than 200,000 affected individuals are included but subpopulations of these conditions may be less than the prevalence standard for rare disease. This list includes rare diseases and conditions for which information requests have been made to the Office of Rare Diseases. It is updated on a regular basis. We welcome suggestions for additions to the list and your recommendations may be sent via email to: ord@od.nih.gov Please Note: The names of the conditions (listed in alphabetical order) may not necessarily be the most frequently used ones. Clicking on one of the names below will take you to a page that contains information specific for that disease. The links on that page will take you to several sources of information, including: ClinicalTrials.gov, an NIH site that lists ongoing clinical trials; Online Mendelian Inheritance in Man (OMIM), an NIH site authored and edited by Johns Hopkins University, with information on specific genetic diseases; and
