81. Platelet Count thrombocytopenia with absent radius, Autorecessive BernardSoulier syndrome,Giant platelets, absent Ristocetin® aggregation, Platelet replacement http://www.labcorp.com/datasets/labcorp/html/chapter/mono/he003600.htm

Platelet Count Number CPT Synonyms Platelets; Thrombocyte Count Specimen Whole blood. Note also that peripheral blood smears prepared at the time of venipuncture may be useful, particularly when platelet aggregation is a problem. Volume 3 mL (dependent upon whether cells are badly distorted by excess anticoagulant) Container Lavender-stopper (EDTA whole blood) tube; light blue-stopper (sodium citrate) tube may be submitted when platelet clumping is a problem. Order test 115345. Collection Mix tube 10 times by gentle inversion. Storage Instructions Maintain specimen at room temperature up to 24 hours. Refrigerate up to 48 hours. Causes for Rejection Hemolysis; clotted specimen; tube not filled with minimum volume; improperly labeled specimen Use Evaluate, diagnose, and/or follow up bleeding disorders, drug-induced thrombocytopenia, idiopathic thrombocytopenia purpura (acute or chronic), disseminated intravascular coagulation, leukemia states, chemotherapeutic management of malignant disease states; investigate purpura, petechiae; evaluate response to platelet transfusions, steroids, or other therapy Limitations Clumping may cause false low count.

82. Homo Sapiens Diseases - Alterations Of Platelets thrombocytopeniaabsent radius (TAR) syndrome; thrombocytopenia absent corpuscallosum, characterized by refractory thrombocytopenia, agenesis of the corpus http://focosi.altervista.org/pathohomotissueblood_platelet.html

HOMO SAPIENS DISEASES - ALTERATIONS IN PLATELETS Table of contents : quantitative alterations thrombocytopenia thrombocytosis qualitative alterations (thombocytopathies) ... granule secretion defects quantitative alterations thrombocytopenia m L) => hemorrhages. deficitary thrombocytopoiesis bone marrow hypoplasia or aplasia congenital bone marrow hypoplasia or aplasia intrinsic aetiology congenital idiopathic amegakaryocytic thrombocytopenia thrombocytopenia-absent radius (TAR) syndrome thrombocytopenia absent corpus callosum , characterized by refractory thrombocytopenia, agenesis of the corpus callosum, hypoplastic cerebellum, abnormal facies (microcephaly, broad nasal root with upturned nose, small upper lip, and micrognathia), and developmental delay Fanconi's anemia or syndrome extrinsic aetiology infective aetiology rubella virus HHV-5 / CMV HBV Toxoplasma gondii drugs used by mother during pregnancy chlorothiazide ethanol acquired bone marrow hypoplasia or aplasia acquired idiopathic amegakaryocytic thrombocytopenia secondary amegakaryocytic thrombocytopenia infections drugs bone marrow aplasia autoimmune amegakaryocytic thrombocytopenia uneffective thrombocytopoiesis avitaminoses vitamin B deficit folate deficit Fe deficit leukemias paroxismal nocturnal hemoglobinuria (PNH) congenital hereditary thrombocytopenia Wiskott-Aldrich syndrome alterations in control factors decreased TPO congenital thrombocytopenia acquired thrombocytopenia HIV-1 nephropathies hemodyalisis unstable regulation of thrombocytopoiesis cyclic thrombocytopenia or tidal platelet dysgenesia

83. Dysplasia Of The Knee Associated With The Syndrome Of Thrombocytopenia And Absen patients with the syndrome of thrombocytopenia and absent radius. Patients withthis syndrome usually have associated intraarticular dysplasia of the http://www.ejbjs.org/cgi/content/abstract/66/3/421

JBJS CME HELP FEEDBACK ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Order Full text via Infotrieve Letters to the Editor: Submit a response Alert me when this article is cited Alert me when Letters to the Editor are posted ... Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Permissions PubMed PubMed Citation Articles by Schoenecker, P. L. Articles by Millar, E. A. JOURNAL ARTICLE Dysplasia of the knee associated with the syndrome of thrombocytopenia and absent radius PL Schoenecker, AK Cohn, WG Sedgwick, PR Manske, I Salafsky and EA Millar We studied the cases of twenty-one patients with the syndrome of thrombocytopenia and absent radius. Patients with this syndrome usually have associated intra-articular dysplasia of the knee joint bilaterally, causing genu varum and a flexion and torsional deformity that become manifest in the first or second year of life. Usually there is progression

84. THROMBOCYTOPENIA thrombocytopenia affects 2535% of patients admitted to the NICU and usually Thrombocytopenic-absent radius syndrome (TAR); Fanconi anemia- aplastic http://pedclerk.bsd.uchicago.edu/thrombocytopenia.html

THROMBOCYTOPENIA th day. 60% of thrombocytopenia is classified as idiopathic, but recent evidence suggests that the underlying cause is related to impaired production of megakaryocytes and platelets secondary to hypoxia. Pathophysiology: Maternal Disorders Drugs- heparin, hydralazine, thiazide diuretics TORCH infections HELLP syndrome Immunologic disorders In mom- ITP, SLE In fetus- Neonatal Alloimmune Thrombocytopenic Purpura (NATP), caused by anti-HPA-1a antibodies from mom. Infants are at risk for intracranial hemorrhage with vaginal delivery. Placental Disorders Chorioangioma Vascular thrombi Placental abruption Neonatal Disorders Decreased platelet production- Normal platelet size with a decreased number of megakaryocytes Thrombocytopenic-Absent Radius syndrome (TAR) Fanconi anemia- aplastic anemia with associated congenital anomalies Congenital leukemia Trisomy 13/18/21 Increased platelet destruction- Increased platelet size with normal or increased number of megakaryocytes Bacterial/candida sepsis TORCH infection DIC Birth asphyxia Necrotizing enterocolitis Clinical Symptoms: The most important part of the physical exam is to distinguish the sick (septic) neonate from the healthy one. Look for petechiae or the presence of mucosal bleeding

85. Hematology General Information Aplastic anemia (Fanconi s syndrome); thrombocytopeniaabsent radius syndrome(TARsyndrome); Wiskott-Aldrich syndrome; May-Hegglin anomaly; Alport syndrome http://pathcuric1.swmed.edu/Resident_Docs/Resident Call Manual/HEME/HEMETOC.HTML

Hematology General Information There is always a hematology supervisor on duty in the lab. The path resident is encouraged to discuss any problems with the supervisor first. If additional information or consultation is needed, the resident may call the Hematology Chief Tech, Sue Bell, or Dr. Kroft. Please notify the day shift supervisor the following day if any tests are approved or authorized to be done by outside laboratories. Hematology Phone Numbers Hematology Lab: 214-590-8195, 214-590-8196 Sue Bell, Chief Tech: Home 817-265-8752 Dr. Robert McKenna: Home 214-357-6977 Dr. Hal Kaplan (Coagulation problems): Home 214-491-0309, Beeper 20052 Dr. Steve Kroft: Home 972-381-1317, Beeper 214-825-7826 Malaria smears See Microbiology section Factor VIII assays Factor VIII assays are not done on an emergency basis at night, holidays, or on weekends without the approval of the path resident. This is because the assay is time consuming, and the hematology lab is not fully staffed during these hours. The path resident should discuss the situation with the clinician who requested the assay. It is the resident's responsibility to decide whether or not the request is a valid one. Other lab results such as protime and PTT may be helpful in evaluating the situation. Information from the clinician, such as past medical history (e.g., is the patient a known hemophiliac?, is emergency surgery required?, etc.) may also be important in reaching the appropriate decision. The path resident may wish to request a hematology/oncology consult.

86. Thalidomide Victims Association Of Canada - Thalidomide Did Not Cause All Birth TAR syndrome (thrombocytopeniaabsent radius) is an autosomal recessive disorderin which thrombocytopenia tends to improve and may not be evident after the http://www.thalidomide.ca/en/information/not_cause_all.html

TVAC's Position Regarding the Return of Thalidomide THALIDOMIDE Did Not Cause All Birth Defects by Randolph Warren, CEO August 16, 1999 With the rehabilitation of thalidomide (new use and licensing) and as a result, the attention given the drug and victims by the media, it becomes important to revisit the past and discuss just what is a thalidomide victim. Some mothers truly believed they had exposure to thalidomide during pregnancy they remembered taking a pill or being given something . Families faced with the shock of children being born with limb defects and/or other deformities, compounded with the media frenzy surrounding thalidomide, naturally, made a connection between the defects and the widely available drug. This just wasn’t always true. It is known "that 2 to 3% of all babies born have significant birth defects, and while thalidomide consumption was widespread in 1960 to 1961, some mothers who undoubtedly took the drug when pregnant (though probably outside the sensitive period) gave birth to babies with defects quite unrelated to thalidomide. It is also possible for a baby exposed to thalidomide during the sensitive period to be born with a variety of defects, of which some, but not all, are drug induced." Good evidence of misdiagnosis exists in the cases of those

87. Bernard Soulier Syndrome - Patient UK thrombocytopeniaabsent radius syndrome; Von Willebrand Disease; Idiopathicthrombocytopenic purpura (ITP); Other inherited giant platelet disorders, http://www.patient.co.uk/showdoc/40001916/

PatientPlus articles are written for doctors and so the language can be technical. However, some people find that they add depth to the articles found in the other sections of this website which are written for non-medical people. Bernard Soulier Syndrome Synonyms: Giant Platelet Syndrome Congenital bleeding disorder characterized by thrombocytopenia and large platelets. The molecular defect involves the absence of a platelet membrane glycoprotein (platelet membrane von Willebrand factor) leading to defective platelet adhesion. It is one of a group of hereditary platelet disorders characterized by thrombocytopenia, giant platelets, and an increased bleeding tendency. Epidemiology Prevalence Rare, with an estimated occurrence of less than 1 per million. Risk Factors Familial with autosomal recessive inheritance. Presentation Symptoms Symptoms are consistent with low or dysfunctional platelets and include easy bruising, nosebleeds, mucosal bleeding, menorrhagia , and, occasionally, gastrointestinal bleeding. The severity of symptoms may be very variable. Heterozygotes usually have no bleeding abnormality. Differential Diagnosis May-Hegglin Anomaly - autosomal dominant disorder of variable thrombocytopenia associated with purpura and bleeding, giant platelets and large inclusion bodies in the white cells

88. Tar Syndrome - Patient UK Synonyms thrombocytopenia with absent radius syndrome, Tetraphocomeliathrombocytopeniasyndrome. Rare autosomal recessive condition.1 thrombocytopenia http://www.patient.co.uk/showdoc/40001753/

PatientPlus articles are written for doctors and so the language can be technical. However, some people find that they add depth to the articles found in the other sections of this website which are written for non-medical people. TAR Syndrome Synonyms: Thrombocytopenia with absent Radius Syndrome, Tetraphocomelia-thrombocytopenia syndrome Rare autosomal recessive condition. Thrombocytopenia presents early but is usually transient. Neonatal death rate is ~40%. Presentation - neonatally with developmental abnormalities which may include: Head and neck - Intracranial bleed ±mental retardation, cerebellar hypoplasia, brachycephaly, micrognathia, squint ptosis , small upturned nose, naevus flammeus on forehead. Upper limb abnormalities: Bilateral absence of radii, hypoplasia or absence of ulna (may be bilateral), abnormal humerus, carpal bone hypoplasia or fusion, hypoplastic phalanges (but thumbs always present) Abdomen: Pancreatic cysts, Meckel's diverticulum Spine and pelvis: Spina bifida ±delayed motor development, hip dislocation, coxa valga Lower limb anomalies (47%): Knee subluxation, patella dislocation, femoral or tibial torsion, fibula may be absent.

89. Re [MOL] Elevated Platelet Count/REPLY HIGH PLATELET COUNT [03134] Congenital causes of thrombocytopenia include WiskottAldrich syndrome, May-Hegglin thrombocytopenia with absent radius, and Bernard-Soulier syndrome. http://www.meds.com/archive/mol-cancer/2000/06/msg03134.html

Date Prev Date Next Thread Prev Thread Next ... Thread Index Re: [MOL] Elevated Platelet count/REPLY HIGH PLATELET COUNT To mol-cancer@lists.meds.com Subject : Re: [MOL] Elevated Platelet count/REPLY HIGH PLATELET COUNT From firefly@islc.net Date : Fri, 30 Jun 2000 04:37:07 -0700 References 395CD81E.3C4B8639@sympatico.ca Reply-To mol-cancer@lists.meds.com Sender owner-mol-cancer@lists.meds.com http://www.meds.com/con_faq.html References [MOL] Elevated Platelet count From: Prev by Date: [MOL] Need Money?.?......... Next by Date: [MOL] Hello Everyone Prev by thread: [MOL] Elevated Platelet count Next by thread: [MOL] TO All our friends... Index(es): Date Thread

90. JUM -- Sign In Page thrombocytopenia and absent radius (TAR) syndrome. J Med Genet 1987;2479–83.Medline; Jones KL. Smith’s Recognizable Patterns of Human Malformation. http://www.jultrasoundmed.org/cgi/content/full/23/7/983

HOME HELP FEEDBACK SUBSCRIPTIONS ... SEARCH QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This item requires a subscription to Journal of Ultrasound in Medicine Online. Full Text Holt-Oram Syndrome: Contribution of Prenatal 3-Dimensional Sonography in an Index... Sepulveda et al. J Ultrasound Med. This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager PubMed PubMed Citation Articles by Sepulveda, W. Articles by Mejia, R. To view this item, select one of the options below: Sign In User Name Sign in without cookies. Can't get past this page? Help with Cookies. Need to Activate? Password Forgot your user name or password? Purchase Short-Term Access Pay per Article - You may access this article (from the computer you are currently using) for 2 days for US$12.00 Pay for Admission - You may access all content in Journal of Ultrasound in Medicine Online (from the computer you are currently using) for 30 days for US$25.00.

91. Orthopedic Manifestations Of The TAR Syndrome | JACPOC Library, 1987 The TAR (thrombocytopenia absent radius) syndrome is a rare genetic disorder thatfollows an autosomal recessive pattern of inheritance. http://jacpoc.oandp.com/library/1987_02_033a.asp

Keyword search: Exact Phrase All Words Any Words Boolean Search oandp.com JACPOC Library 1987 Vol 22, Num 2 Link to Figures Show Figures Article Text Figures References Send Link Send HTML Article Orthopedic Manifestations of the TAR Syndrome CHARLES D. BUKREY, MD* The TAR (thrombocytopenia absent radius) syndrome is a rare genetic disorder that follows an autosomal recessive pattern of inheritance. It is to be distinguished from the Fanconi variants. Several types of limb deficits are associated with this syndrome. The Area Child Amputee Center has been involved in the evaluation and care of six children with this syndrome. Patients tend to have a rather typical bilateral intercalary radial hemimelia. The marked foreshortening in the upper extremities make them the clinical homologues of an upper total phocomelia. They also tend to have lower-limb anomalies, which consist primarily of a marked genu varum. The deformity is accompanied by a variety of roentgenographic manifestations. Upper- and lower-limb problems are addressed as regards clinical presentation and prosthetic/orthotic management. *Area Child Amputee Center, 235 Wealthy SE, Grand Rapids, MI 49503

92. WEB COAG of clinical conditions HermanskyPudlak syndrome, Chediak-Higashi syndrome,Wiskott-Aldrich syndrome, thrombocytopenia-absent radius (TAR) syndrome. http://dpalm.med.uth.tmc.edu/faculty/bios/nguyen/Webcoag/Wbcoagjs/spd.htm

STRORAGE POOL DISEASE Andy Nguyen,M.D./ UT-Medical School at Houston, Pathology/ Last Revision on: 12/9/96 Pathological Basis: Mode of inheritance: variable. Patients with storage pool disease lack or have diminished amounts of dense granules, storage pool of ADP and ATP. Alpha granules may or may not be absent. Storage pool disease has been described in association with a number of clinical conditions: Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, Wiskott-Aldrich syndrome, thrombocytopenia-absent radius (TAR) syndrome. Treatment: Platelet concentrates: given judiciously to prevent the risk for platelet alloimmunization. Avoid any medications that contain aspirin. Diagnostic Criteria: Bleeding_time:abnormal Plt_ATP:abnormal(deficient_in_dense_bodies) Plt_aggregation,with_ADP:abnormal Plt_aggregation,with_Collagen:abnormal Plt_aggregation,with_Epinephrine:abnormal

93. Genetic Conditions / Rare Conditions Information Site Canavan, Bloom); Thalassemia (Cooley anemia); thrombocytopenia absent radiussyndrome Tourette syndrome Treacher Collins syndrome (craniofacial) http://www.kumc.edu/gec/support/

Genetic and Rare Conditions Site Medical Genetics, University of Kansas Medical Center Lay advocacy and support groups, information on genetic conditions /birth defects for professionals, educators, and individuals, National and International organizations · Categories Genetic Counselors and Geneticists Children and teen sites Advocacy ... Z Revised September 2, 2005 Aarskog syndrome Achondroplasia Achromatopsia Acoustic neuroma (and benign cranial nerve tumors) Adrenal hyperplasia Adrenoleukodystrophy Agenesis of corpus callosum Aicardi syndrome ... Arthrogryposis (amyoplasia) Ataxia (Friedreich ataxia, spinocerebellar ataxias, ataxia telangiectasia, essential tremor, spastic paraplegia, other) Autism / Asperger syndrome Bardet-Biedl syndrome Basal cell carcinoma (Gorlin syndrome) Batten disease (neuronal ceroid lipofuscinosis) Beckwith-Wiedemann syndrome Blepharophimosis Blind (vision anomalies) Brain Conditions / Disorders Branchio-Oto-Renal (BOR) syndrome Canavan Cancer ataxia telangiectasia ... Celiac sprue dermatitis herpiformis, gluten intolerance Charcot-Marie-Tooth peroneal muscular atrophy, hereditary motor sensory neuropathy

94. American Family Physician: Diagnosis And Treatment Of Idiopathic Thrombocytopeni auditory acuity Congenital syndromes to exclude Fanconi s syndromeThrombocytopeniaabsent radius syndrome Wiskott-Aldrich syndrome Alport s syndrome http://www.findarticles.com/p/articles/mi_m3225/is_n8_v54/ai_18989453/pg_2

@import url(/css/us/style1.css); @import url(/css/us/searchResult1.css); @import url(/css/us/articles.css); @import url(/css/us/artHome1.css); Advanced Search Home Help IN free articles only all articles this publication Automotive Sports 10,000,000 articles - not found on any other search engine. FindArticles American Family Physician Dec 1996 Content provided in partnership with 10,000,000 articles Not found on any other search engine. Related Searches Thrombocytopenic purpura / Care and treatment Practice guidelines (Medicine) / Standards Featured Titles for AAACN Viewpoint ABNF Journal, The AIDS Treatment News AMAA Journal ... View all titles in this topic Hot New Articles by Topic Automotive Sports Top Articles Ever by Topic Automotive Sports Diagnosis and treatment of idiopathic thrombocytopenic purpura - includes patient information sheet - American Society of Hematology ITP Practice Guideline Panel American Family Physician Dec, 1996 Save a personal copy of this article and quickly find it again with Furl.net. It's free! Save it.

95. OMIM - THROMBOCYTOPENIA--ABSENT RADIUS SYNDROME http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=274000

96. Adversity It s a learning method he picked up from living with thrombocytopenia absentradius syndrome, a condition he was born with that connected his hands to his http://www.azcentral.com/families/education/articles/0522yearend22-adversity0.ht

OAS_listpos="Top1,Top2,Left3,x69,Bottom2,x70,x01,x02,x03,x04,x05,x06,Right3,Bottom1,BoxAd" var ScriptsLoaded = true; Enter to win: A new 2006 Dodge Charger from The Arizona Republic and Power Automotive! Traffic Weather News ... Subscribe to The Republic Adversity Louie Villalobos The Arizona Republic May. 22, 2005 12:00 AM Sean Martin loves to draw. It's a skill the Glendale teen has honed over many years by reading books, asking peers to review his work and trying different ways to produce an image. Drawing arms and clothes used to be especially challenging for the 17-year-old senior at Cactus High School in Glendale.. Now, after hours of practicing, Martin draws arms quickly and with great detail. advertisement OAS_AD('BoxAd') "You just find ways to make it a little better," he said. It's a learning method he picked up from living with thrombocytopenia absent radius syndrome, a condition he was born with that connected his hands to his upper torso and his feet to his pelvis. It's a rare genetic disorder that leaves him vulnerable to severe bleeding and, because he has no arms or legs, significantly limits his ability to reach or use everyday items, such as a computer mouse. But that hasn't stopped him from learning to create a Web site, draw prolifically or take up cooking. He is especially fond of cooking foreign dishes.

97. From The Grand Rounds Archive At Baylor Examples of congenital platelet disorders include thrombocytopenia absent radiussyndrome, Amegkaryocytic thrombocytopenia, Glanzmann s Thrombasthenia and http://www.bcm.edu/oto/grand/11394.html

Grand Rounds Archives The information contained within the Grand Rounds Archive is intended for use by doctors and other health care professionals. These documents were prepared by resident physicians for presentation and discussion at a conference held at The Baylor College of Medicine in Houston, Texas. No guarantees are made with respect to accuracy or timeliness of this material. This material should not be used as a basis for treatment decisions, and is not a substitute for professional consultation and/or peer-reviewed medical literature. BLEEDING DISORDERS IN PEDIATRIC OTOLARYNGOLOGY November 3, 1994 Warren E. Morgan, M.D. Bleeding disorders may complicate many routine otolaryngology procedures. This may result from technical errors, but bleeding associated with defects in the coagulation system may be difficult to control. All otolaryngologists should be aware of common bleeding disorders and their treatment. Normal coagulation may be divided into three phases: vascular response, platelet activation, and the coagulation cascade. The initial vascular response of vasoconstriction occurs immediately after the injury. Platelet adherence occurs in response to collagen exposure by endothelial damage. Further platelet adhesion is mediated through specific platelet receptors and mediators creating an unstable hemostatic plug. Coincident with the platelet activation, the coagulation cascade is initiated by the release of tissue thromboplastin and contact-activating factors. The coagulation cascade forms a fibrin matrix that reinforces the platelet plug.

98. *200150 CHOREOACANTHOCYTOSIS; CHAC *200350 ACETYL-CoA OF GLANZMANN AND NAEGELI *273900 thrombocytopenia *274000 thrombocytopeniaABSENTRADIUS syndrome *274150 THROMBOTIC THROMBOCYTOPENIC PURPURA, http://linkage.rockefeller.edu/wli/omim/auto_rec.txt

*200150 : CHOREOACANTHOCYTOSIS; CHAC *200350 : ACETYL-CoA CARBOXYLASE DEFICIENCY *200400 : ACHALASIA, FAMILIAL ESOPHAGEAL *200500 : ACHEIROPODY *200600 : ACHONDROGENESIS, TYPE IA; ACG1A *200990 : ACROCALLOSAL SYNDROME; ACLS *201000 : ACROCEPHALOPOLYSYNDACTYLY TYPE II *201100 : ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ *201300 : ACROOSTEOLYSIS, NEUROGENIC *201400 : ACTH DEFICIENCY *201450 : ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN; ACADM *201460 : ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF *201470 : ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS *201475 : ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF *201550 : ADDUCTED THUMBS SYNDROME *201810 : ADRENAL HYPERPLASIA II *201910 : ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY *202010 : ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-@BETA-HYDROXYLASE DEFICIENCY *202110 : ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY *202200 : ADRENAL UNRESPONSIVENESS TO ACTH *202500 : SEVERE COMBINED IMMUNODEFICIENCY 1; SCID1 *203100 : ALBINISM I *203200 : ALBINISM II *203300 : HERMANSKY-PUDLAK SYNDROME; HPS *203500 : ALKAPTONURIA *203650 : ALOPECIA-MENTAL RETARDATION SYNDROME *203700 : ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS *203740 : ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY *203750 : ALPHA-METHYLACETOACETICACIDURIA *203800 : ALSTROM SYNDROME; ALMS1 *204200 : CEROID LIPOFUSCINOSIS, NEURONAL 3, JUVENILE; CLN3 *204300 : CEROID LIPOFUSCINOSIS, NEURONAL 4; CLN4 *204400 : AMAUROTIC IDIOCY, CONGENITAL FORM *204500 : CEROID LIPOFUSCINOSIS, NEURONAL 2, LATE INFANTILE TYPE; CLN2 *204600 : AMAUROTIC IDIOCY, LATE INFANTILE TYPE, WITH MULTILAMELLAR CYTOSOMES *204700 : AMELOGENESIS IMPERFECTA, PIGMENTED HYPOMATURATION TYPE *204800 : AMOBARBITAL, DEFICIENT N-HYDROXYLATION OF *205100 : AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE; ALS2 *205200 : AMYOTROPHIC LATERAL SCLEROSIS, JUVENILE, WITH DEMENTIA *206500 : ANENCEPHALY *206570 : ANGIOMATOSIS, DIFFUSE CORTICOMENINGEAL, OF DIVRY AND VAN BOGAERT *206700 : ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL DEFICIENCY *206780 : ANODONTIA, COMPLETE, OF PERMANENT DENTITION *206800 : ANONYCHIA *206900 : ANOPHTHALMOS, TRUE OR PRIMARY *206920 : ANOPHTHALMOS WITH LIMB ANOMALIES *207410 : ANTLEY-BIXLER SYNDROME; ABS *207750 : APOLIPOPROTEIN C-II DEFICIENCY, TYPE I HYPERLIPOPROTEINEMIA DUE TO *207800 : ARGININEMIA *207900 : ARGININOSUCCINICACIDURIA *208000 : ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY *208060 : ARTERIOSCLEROSIS, SEVERE JUVENILE *208100 : ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC TYPE; AMCN *208150 : PENA-SHOKEIR SYNDROME, TYPE I *208200 : ARTHROGRYPOSIS-LIKE DISORDER *208230 : ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD; PPAC *208250 : ARTHROPATHY-CAMPTODACTYLY SYNDROME *208400 : ASPARTYLGLUCOSAMINURIA *208500 : ASPHYXIATING THORACIC DYSTROPHY; ATD *208750 : ATAXIA, DEAFNESS, AND CARDIOMYOPATHY *208800 : PYRUVATE DECARBOXYLASE DEFICIENCY *208900 : ATAXIA-TELANGIECTASIA; AT *208905 : ATAXIA-TELANGIECTASIA, COMPLEMENTATION GROUP D; ATD; ATDC *209100 : ATONIC-ASTATIC SYNDROME OF FOERSTER *209900 : BARDET-BIEDL SYNDROME, TYPE 2; BBS2 *209901 : BARDET-BIEDL SYNDROME, TYPE 1; BBS1 *210100 : BETA-AMINOISOBUTYRIC ACID, URINARY EXCRETION OF *210200 : BETA-METHYLCROTONYLGLYCINURIA I *210250 : SITOSTEROLEMIA *210370 : BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY *210600 : BIRD-HEADED DWARFISM *210710 : MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I *210720 : MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II *210730 : MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III *210900 : BLOOM SYNDROME; BLM *211100 : FUCOSYLTRANSFERASE 1; FUT1 *211180 : BOWEN HUTTERITE SYNDROME *211350 : BOWING, CONGENITAL, WITH SHORT BONES *211390 : BRITTLE HAIR AND MENTAL DEFICIT *211410 : BREAST CANCER, DUCTAL, 1; BRCD1 *211420 : BREAST CANCER, DUCTAL, 2; BRCD2 *211500 : BULBAR PALSY, PROGRESSIVE, OF CHILDHOOD *211530 : BULBAR PALSY, PROGRESSIVE, WITH PERCEPTIVE DEAFNESS *211750 : C SYNDROME *211890 : CAMPOMELIA, CUMMING TYPE *211900 : CALCINOSIS, TUMORAL, WITH HYPERPHOSPHATEMIA *211960 : CAMPTODACTYLY WITH MUSCULAR HYPOPLASIA, SKELETAL DYSPLASIA, AND ABNORMAL PALMAR CREASES *212050 : CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS; FCMC *212130 : CARDIOMYOPATHY ASSOCIATED WITH MYOPATHY AND SUDDEN DEATH *212138 : CARNITINE-ACYLCARNITINE TRANSLOCASE; CACT *212160 : CARNITINE DEFICIENCY, MYOPATHIC *212200 : CARNOSINEMIA *212350 : CATARACT AND CARDIOMYOPATHY *212400 : CATARACT AND CONGENITAL ICHTHYOSIS *212500 : CATARACT, CONGENITAL OR JUVENILE *212780 : CENANI SYNDACTYLISM *212840 : CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM *212895 : CEREBELLAR ATAXIA, EARLY-ONSET, WITH RETAINED TENDON REFLEXES; EOCA *213000 : CEREBELLAR HYPOPLASIA *213100 : CEREBELLOPARENCHYMAL DISORDER II; CPD II *213200 : CEREBELLAR ATAXIA 1; CLA1 *213300 : CEREBELLOPARENCHYMAL DISORDER IV; CPD IV *213600 : CEREBRAL CALCIFICATION, NONARTERIOSCLEROTIC *213700 : CEREBROTENDINOUS XANTHOMATOSIS *213980 : CEREBROFACIOTHORACIC DYSPLASIA *214110 : CEREBROHEPATORENAL SYNDROME, VARIANT TYPES *214370 : NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH DEAFNESS, MENTAL RETARDATION, AND ABSENT SENSORY LARGE MYELINATED FIBERS *214400 : CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A; CMT4A *214500 : CHEDIAK-HIGASHI SYNDROME; CHS1 *214900 : CHOLESTASIS-LYMPHEDEMA SYNDROME *214950 : CHOLESTASIS, INTRAHEPATIC, WITH DEFECTIVE METABOLISM OF TRIHYDROXYCOPROSTANIC ACID TO CHOLIC ACID *215400 : CHORDOMA *215470 : CHORIORETINAL DYSTROPHY, SPINOCEREBELLAR ATAXIA, AND HYPOGONADOTROPIC HYPOGONADISM *215500 : CHOROIDAL DYSTROPHY, CENTRAL AREOLAR; CACD *215520 : CILIARY DYSKINESIA DUE TO TRANSPOSITION OF CILIARY MICROTUBULES *216340 : CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA *216400 : COCKAYNE SYNDROME, TYPE I; CKN1 *216550 : COHEN SYNDROME; COH1 *216700 : COLLAGENOSIS, FAMILIAL REACTIVE PERFORATING; RPC *216950 : COMPLEMENT COMPONENT C1r DEFICIENCY *217000 : COMPLEMENT COMPONENT 2 DEFICIENCY *217030 : I FACTOR; IF *217050 : COMPLEMENT COMPONENT 6 DEFICIENCY *217070 : COMPLEMENT COMPONENT 7 DEFICIENCY *217300 : CORNEA PLANA 2; CNA2 *217400 : CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS *217500 : CORNEAL DYSTROPHY, BAND-SHAPED *217700 : CORNEAL ENDOTHELIAL DYSTROPHY 2; CHED2 *217800 : MACULAR DYSTROPHY, CORNEAL, 1; MCDC1 *218000 : CORPUS CALLOSUM, AGENESIS OF, WITH NEURONOPATHY *218030 : CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY *218040 : COSTELLO SYNDROME *218100 : CRANIAL NERVES, CONGENITAL PARESIS OF *218330 : CRANIOECTODERMAL DYSPLASIA *218400 : CRANIOMETAPHYSEAL DYSPLASIA, RECESSIVE TYPE *218900 : CROME SYNDROME *219000 : CRYPTOPHTHALMOS WITH OTHER MALFORMATIONS *219100 : CUTIS LAXA *219150 : CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION *219500 : CYSTATHIONINURIA *219800 : CYSTINOSIS, NEPHROPATHIC; CTNS *220111 : LEIGH SYNDROME, FRENCH-CANADIAN TYPE *220120 : D-GLYCERICACIDEMIA *220150 : DALMATIAN HYPOURICEMIA *220210 : DANDY-WALKER-LIKE MALFORMATION WITH ATRIOVENTRICULAR SEPTAL DEFECT *220500 : DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, RECESSIVE FORM *221300 : DEAFNESS, CONDUCTIVE, WITH MALFORMED EXTERNAL EAR *221350 : DEAFNESS, CONGENITAL, WITH VITILIGO AND ACHALASIA *221650 : DEAFNESS, NEURAL, PROGRESSIVE CHILDHOOD TYPE *221770 : POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY; PLOSL *221800 : DERMOCHONDROCORNEAL DYSTROPHY *221900 : DETACHMENT OF RETINA, CONGENITAL *222100 : DIABETES MELLITUS, INSULIN-DEPENDENT, 1; IDDM1 *222300 : WOLFRAM SYNDROME *222600 : DIASTROPHIC DYSPLASIA; DTD *222690 : DIBASICAMINOACIDURIA I *222745 : 2,4-@DIENOYL-CoA REDUCTASE; DECR *222748 : DIHYDROPYRIMIDINASE; DPYS *222800 : DIPHOSPHOGLYCERATE MUTASE DEFICIENCY OF ERYTHROCYTE *222900 : DISACCHARIDE INTOLERANCE I *223000 : LACTASE DEFICIENCY, CONGENITAL *223100 : DISACCHARIDE INTOLERANCE III *223360 : DOPAMINE BETA-HYDROXYLASE, PLASMA; DBH *223370 : DUBOWITZ SYNDROME *223800 : DYGGVE-MELCHIOR-CLAUSEN DISEASE *223900 : DYSAUTONOMIA, FAMILIAL; DYS *224050 : DYSEQUILIBRIUM SYNDROME; DES *224100 : ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; CDAN2 *224120 : ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE I; CDAN1 *224300 : DYSOSTEOSCLEROSIS *224500 : DYSTONIA MUSCULORUM DEFORMANS 2; DYT2 *224690 : EAR, PATELLA, SHORT STATURE SYNDROME *224750 : SCHOPF-SCHULZ-PASSARGE SYNDROME *225000 : ECTODERMAL DYSPLASIA, CLEFT LIP AND PALATE, HAND AND FOOT DEFORMITY, AND MENTAL RETARDATION *225060 : ECTODERMAL DYSPLASIA, TYPE 4; ED4 *225200 : ECTOPIA LENTIS WITH ECTOPIA OF PUPIL *225250 : ECTOPIC THYROID WITH HYPOTHYROIDISM *225280 : EEM SYNDROME *225410 : EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE *225500 : ELLIS-VAN CREVELD SYNDROME; EVC *225750 : ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH CALCIFICATION OF BASAL GANGLIA AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS *225790 : ENCEPHALOCLASTIC PROLIFERATIVE VASCULOPATHY; EPV *226200 : ENTEROKINASE DEFICIENCY *226300 : ENTEROPATHY, PROTEIN-LOSING *226450 : EPIDERMOLYSIS BULLOSA INVERSA DYSTROPHICA *226500 : EPIDERMOLYSIS BULLOSA DYSTROPHICA NEUROTROPHICA *226750 : EPILEPSY AND YELLOW TEETH *226900 : EPIPHYSEAL DYSPLASIA, MULTIPLE *226960 : EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS *226980 : EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS *227090 : ERYTHRODERMA, LETHAL CONGENITAL *227150 : ETHANOLAMINOSIS *227220 : EYE COLOR 3; EYCL3 *227240 : EYE COLOR 1; EYCL1 *227260 : FACIAL ECTODERMAL DYSPLASIA *227330 : FACIODIGITOGENITAL SYNDROME, RECESSIVE *227400 : FACTOR V DEFICIENCY *227500 : FACTOR VII DEFICIENCY *227600 : FACTOR X DEFICIENCY *227645 : FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC *227646 : FANCONI ANEMIA, COMPLEMENTATION GROUP D; FANCD *227650 : FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA *227660 : FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB *228000 : FARBER LIPOGRANULOMATOSIS *228100 : FATTY METAMORPHOSIS OF VISCERA *228250 : FEMUR, UNILATERAL BIFID, WITH MONODACTYLOUS ECTRODACTYLY *228520 : FIBROCHONDROGENESIS *228600 : FIBROMATOSIS, JUVENILE HYALINE *228900 : FIBULA APLASIA AND COMPLEX BRACHYDACTYLY *228960 : FLAUJEAC FACTOR DEFICIENCY *229000 : FLETCHER FACTOR DEFICIENCY *229050 : FOLIC ACID, TRANSPORT DEFECT INVOLVING *229100 : FORMIMINOTRANSFERASE DEFICIENCY *229200 : FRAGILITAS OCULI WITH JOINT HYPEREXTENSIBILITY *229300 : FRIEDREICH ATAXIA 1; FRDA *229400 : FRONTOFACIONASAL DYSOSTOSIS *229500 : FRUCTOSE AND GALACTOSE INTOLERANCE *229600 : FRUCTOSE INTOLERANCE, HEREDITARY *229700 : FRUCTOSE-1,6-BISPHOPHATASE 1; FBP1 *229800 : FRUCTOSURIA *229850 : FRYNS SYNDROME; FRNS *230000 : FUCOSIDOSIS *230200 : GALACTOKINASE DEFICIENCY *230350 : GALACTOSE EPIMERASE DEFICIENCY *230400 : GALACTOSEMIA *230450 : GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO *230500 : GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I *230700 : GANGLIOSIDOSIS, GM2, TYPE III, OR JUVENILE TYPE *230740 : GAPO SYNDROME *230800 : GAUCHER DISEASE, TYPE I *231050 : GELEOPHYSIC DYSPLASIA *231070 : GERODERMA OSTEODYSPLASTICA; GO *231090 : HYDATIDIFORM MOLE *231200 : GIANT PLATELET SYNDROME *231500 : GLAUCOMA, JUVENILE *231550 : ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME; AAA *231610 : GLUCURONIDASE, MOUSE, MODIFIER OF; GUSM *231670 : GLUTARICACIDEMIA I *231675 : GLUTARICACIDURIA IIC *231680 : GLUTARICACIDURIA IIA *231950 : GLUTATHIONURIA *232000 : PROPIONICACIDEMIA, TYPE I *232050 : PROPIONICACIDEMIA, TYPE II *232200 : GLYCOGEN STORAGE DISEASE I *232300 : GLYCOGEN STORAGE DISEASE II *232400 : GLYCOGEN STORAGE DISEASE III *232500 : GLYCOGEN STORAGE DISEASE IV *232600 : GLYCOGEN STORAGE DISEASE V *232700 : GLYCOGEN STORAGE DISEASE VI *232800 : GLYCOGEN STORAGE DISEASE VII *233100 : RENAL GLUCOSURIA; GLYS1 *233400 : GONADAL DYSGENESIS, XX TYPE, WITH DEAFNESS *233690 : GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL CYTOCHROME-b-NEGATIVE FORM *233700 : GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL CYTOCHROME-b-POSITIVE FORM I *233710 : GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL CYTOCHROME-b-POSITIVE FORM II *234000 : HAGEMAN FACTOR DEFICIENCY *234050 : HAIR-BRAIN SYNDROME *234200 : HALLERVORDEN-SPATZ DISEASE *234500 : HARTNUP DISORDER *235200 : HEMOCHROMATOSIS; HFE *235510 : HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME *235800 : HISTIDINEMIA *235830 : HISTIDINURIA DUE TO A RENAL TUBULAR DEFECT *235900 : HISTIOCYTOSIS, FAMILIAL LIPOCHROME *236100 : HOLOPROSENCEPHALY 1, ALOBAR; HPE1 *236200 : HOMOCYSTINURIA *236250 : 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR *236400 : HUMERORADIAL SYNOSTOSIS *236670 : WALKER-WARBURG SYNDROME *236680 : HYDROLETHALUS SYNDROME *236700 : MCKUSICK-KAUFMAN SYNDROME; MKKS *236730 : UROFACIAL SYNDROME; UFS *236792 : L-2-@HYDROXYGLUTARICACIDEMIA *236795 : 3-@HYDROXYISOBUTYRICACIDURIA *236800 : HYDROXYKYNURENINURIA *236900 : HYDROXYLYSINURIA *237000 : HYDROXYPROLINEMIA *237300 : HYPERAMMONEMIA DUE TO CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY *237310 : HYPERAMMONEMIA DUE TO N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY *237450 : HYPERBILIRUBINEMIA, ROTOR TYPE *237800 : HYPERBILIRUBINEMIA, SHUNT *238300 : HYPERGLYCINEMIA, ISOLATED NONKETOTIC, TYPE I *238310 : HYPERGLYCINEMIA, ISOLATED NONKETOTIC, TYPE II *238320 : HYPERGONADOTROPIC HYPOGONADISM; HHG *238330 : HYPERGLYCINEMIA, ISOLATED NONKETOTIC, TYPE III *238331 : GLYCINE CLEAVAGE SYSTEM L PROTEIN; GCSL *238600 : HYPERLIPOPROTEINEMIA, TYPE I *238700 : HYPERLYSINEMIA *239000 : HYPEROSTOSIS CORTICALIS DEFORMANS JUVENILIS *239100 : HYPEROSTOSIS CORTICALIS GENERALISATA *239300 : HYPERPHOSPHATASIA WITH MENTAL RETARDATION *239500 : HYPERPROLINEMIA, TYPE I *239510 : HYPERPROLINEMIA, TYPE II *239800 : HYPERTELORISM, MICROTIA, FACIAL CLEFTING SYNDROME *240200 : HYPOADRENOCORTICISM, FAMILIAL *240300 : AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I *240500 : COMMON VARIABLE IMMUNODEFICIENCY *241080 : HYPOGONADISM, DIABETES MELLITUS, ALOPECIA, MENTAL RETARDATION, AND ELECTROCARDIOGRAPHIC ABNORMALITIES *241150 : HYPOKALEMIA, FAMILIAL *241310 : HYPOMANDIBULAR FACIOCRANIAL DYSOSTOSIS *241400 : HYPOPARATHYROIDISM *241410 : HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; HRD *241530 : HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY; HHRH *241900 : HYPOTRICHOSIS *242500 : ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE *242600 : IMINOGLYCINURIA *242650 : IMMOTILE CILIA SYNDROME 1; ICS1 *242670 : IMMOTILE CILIA SYNDROME DUE TO DEFECTIVE RADIAL SPOKES *242700 : IMMUNE DEFECT DUE TO ABSENCE OF THYMUS *242860 : IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME *242900 : IMMUNOOSSEOUS DYSPLASIA *243000 : INDIFFERENCE TO PAIN *243150 : INTESTINAL ATRESIA, MULTIPLE *243180 : INTESTINAL PSEUDOOBSTRUCTION DUE TO NEURONAL DISEASE *243305 : INVERSIN *243400 : ISONIAZID INACTIVATION *243500 : ISOVALERICACIDEMIA; IVA *243600 : JEJUNAL ATRESIA *243800 : JOHANSON-BLIZZARD SYNDROME; JBS *244200 : KALLMANN SYNDROME 3; KAL3 *244400 : KARTAGENER SYNDROME *244450 : KAUFMAN OCULOCEREBROFACIAL SYNDROME *244460 : KENNY-CAFFEY SYNDROME, TYPE 1; KCS *245000 : PAPILLON-LEFEVRE SYNDROME; PALS *245010 : KERATOSIS PALMOPLANTARIS WITH PERIODONTOPATHIA AND ONYCHOGRYPOSIS *245050 : 3-@OXOACID CoA TRANSFERASE; OXCT *245100 : KETOACIDURIA WITH MENTAL DEFICIENCY AND OTHER FEATURES *245200 : KRABBE DISEASE *245349 : PYRUVATE DEHYDROGENASE COMPLEX, COMPONENT X *245400 : LACTIC ACIDOSIS, CONGENITAL INFANTILE *245480 : LACTOFERRIN-DEFICIENT NEUTROPHILS *245600 : LARSEN SYNDROME, RECESSIVE *245660 : LARYNGOONYCHOCUTANEOUS SYNDROME; LOCS *245800 : LAURENCE-MOON SYNDROME *245900 : LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY *246000 : LEG, ABSENCE DEFORMITY OF, WITH CONGENITAL CATARACT *246400 : LETTERER-SIWE DISEASE *246450 : 3-@HYDROXY-3-METHYLGLUTARYL-COENZYME A LYASE DEFICIENCY *246530 : LEUKOTRIENE C4 SYNTHASE; LTC4S *246600 : LIPASE, CONGENITAL ABSENCE OF PANCREATIC *246700 : LIPID TRANSPORT DEFECT OF INTESTINE *246800 : LIPIDOSIS, JUVENILE DYSTONIC *246900 : LIPOAMIDE DEHYDROGENASE DEFICIENCY, LACTIC ACIDOSIS DUE TO *247100 : LIPOID PROTEINOSIS OF URBACH AND WIETHE *247800 : LYMPHOPENIC HYPERGAMMAGLOBULINEMIA, ANTIBODY DEFICIENCY, AUTOIMMUNE HEMOLYTIC ANEMIA, AND GLOMERULONEPHRITIS *247980 : LIPASE B, LYSOSOMAL ACID; LIPB *248300 : MAL DE MELEDA *248310 : MALARIA, INTENSITY OF INFECTION IN *248360 : MALONYL CoA DECARBOXYLASE DEFICIENCY *248370 : MANDIBULOACRAL DYSPLASIA; MAD *248500 : MANNOSIDOSIS, ALPHA B, LYSOSOMAL *248510 : MANNOSIDOSIS, BETA; MANB1 *248600 : MAPLE SYRUP URINE DISEASE, TYPE IA *248610 : MAPLE SYRUP URINE DISEASE, TYPE II *248611 : MAPLE SYRUP URINE DISEASE, TYPE IB *248700 : MARDEN-WALKER SYNDROME *248800 : MARINESCO-SJOGREN SYNDROME; MSS *248900 : MAST SYNDROME *249000 : MECKEL SYNDROME; MKS *249100 : MEDITERRANEAN FEVER, FAMILIAL; MEFV *249210 : MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME *249310 : MEGALOCORNEA-MENTAL RETARDATION SYNDROME *249620 : MENTAL RETARDATION, CONGENITAL HEART DISEASE, BLEPHAROPHIMOSIS, BLEPHAROPTOSIS, AND HYPOPLASTIC TEETH *249650 : MERCAPTOLACTATE-CYSTEINE DISULFIDURIA; MCDU *250100 : METACHROMATIC LEUKODYSTROPHY *250250 : CARTILAGE-HAIR HYPOPLASIA; CHH *250600 : METATROPIC DWARFISM *250620 : METHACRYLICACIDURIA *250790 : METHEMOGLOBINEMIA DUE TO DEFICIENCY OF CYTOCHROME b5 *250800 : METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE *250850 : METHIONINE ADENOSYLTRANSFERASE DEFICIENCY *250900 : METHIONINE MALABSORPTION SYNDROME *250950 : 3-@METHYLGLUTACONICACIDURIA *251000 : METHYLMALONICACIDURIA DUE TO METHYLMALONIC CoA MUTASE DEFICIENCY *251100 : METHYLMALONICACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMINcbl A *251110 : METHYLMALONICACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMINcbl B *251170 : MEVALONATE KINASE; MVK *251200 : MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE 1; MCPH1 *251230 : MICROCEPHALY-MICROMELIA SYNDROME *251270 : MICROCEPHALY WITH CHORIORETINOPATHY *251300 : MICROCEPHALY, HIATUS HERNIA, AND NEPHROTIC SYNDROME *251450 : MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION *251500 : MICROPHTHALMIA AND MENTAL DEFICIENCY *251600 : MICROPHTHALMOS, AUTOSOMAL RECESSIVE *251800 : MICROTIA WITH MEATAL ATRESIA AND CONDUCTIVE DEAFNESS *251850 : MICROVILLUS INCLUSION DISEASE *252100 : MOHR SYNDROME *252350 : MOYAMOYA DISEASE *252500 : MUCOLIPIDOSIS II *252600 : MUCOLIPIDOSIS III *252605 : MUCOLIPIDOSIS III, VARIANT FORM *252650 : MUCOLIPIDOSIS IV *252800 : MUCOPOLYSACCHARIDOSIS TYPE I *252900 : MUCOPOLYSACCHARIDOSIS TYPE IIIA *252920 : MUCOPOLYSACCHARIDOSIS TYPE IIIB *252930 : MUCOPOLYSACCHARIDOSIS TYPE IIIC *252940 : MUCOPOLYSACCHARIDOSIS TYPE IIID *253000 : MUCOPOLYSACCHARIDOSIS TYPE IVA *253200 : MUCOPOLYSACCHARIDOSIS TYPE VI *253220 : MUCOPOLYSACCHARIDOSIS TYPE VII *253240 : MUCUS INSPISSATION OF RESPIRATORY TRACT *253250 : MULIBREY NANISM; MUL *253260 : BIOTINIDASE; BTD *253270 : MULTIPLE CARBOXYLASE DEFICIENCY, BIOTIN-RESPONSIVE; MCD *253280 : MUSCLE-EYE-BRAIN DISEASE; MEB *253290 : MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE *253310 : LETHAL CONGENITAL CONTRACTURE SYNDROME *253700 : MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C *253800 : FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; FCMD *253900 : MUSCULAR DYSTROPHY, CONGENITAL, PRODUCING ARTHROGRYPOSIS *254110 : MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H *254150 : MUSK, INABILITY TO SMELL *254210 : MYASTHENIA GRAVIS, FAMILIAL INFANTILE; FIMG *254600 : MYELOPEROXIDASE DEFICIENCY *254770 : MYOCLONIC EPILEPSY, JUVENILE; EJM1 *254780 : EPILEPSY, PROGRESSIVE MYOCLONIC 2; EPM2A *254900 : MYOCLONUS-NEPHROPATHY SYNDROME *255125 : MYOPATHY WITH DEFICIENCY OF SUCCINATE DEHYDROGENASE AND ACONITASE *255300 : MYOPATHY, CONGENITAL *255320 : MYOPATHY, CONGENITAL MULTICORE, WITH EXTERNAL OPHTHALMOPLEGIA *255800 : SCHWARTZ-JAMPEL SYNDROME; SJS *255960 : MYXOMA, INTRACARDIAC *256100 : NEPHRONOPHTHISIS, FAMILIAL JUVENILE 1; NPHP1 *256500 : NETHERTON DISEASE *256520 : NEU-LAXOVA SYNDROME; NLS *256540 : NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY *256550 : NEURAMINIDASE DEFICIENCY *256600 : NEUROAXONAL DYSTROPHY, INFANTILE *256700 : NEUROBLASTOMA *256710 : NEUROECTODERMAL MELANOLYSOSOMAL DISEASE *256731 : CEROID LIPOFUSCINOSIS, NEURONAL 5; CLN5 *256810 : NEUROPATHY, CONGENITAL SENSORY, WITH NEUROTROPHIC KERATITIS *256850 : NEUROPATHY, GIANT AXONAL; GAN *256855 : NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH EXCESSIVE MYELIN FOLDING COMPLEX, AUTOSOMAL RECESSIVE *257150 : NEUTROPHIL ACTIN DYSFUNCTION; NAD *257200 : NIEMANN-PICK DISEASE *257220 : NIEMANN-PICK DISEASE, TYPE C *257270 : NIGHT BLINDNESS WITH HIGH-GRADE MYOPIA *257320 : NORMAN-ROBERTS LISSENCEPHALY SYNDROME *257550 : OCULAR MOTOR APRAXIA *257600 : OCULAR MYOPATHY WITH CURARE SENSITIVITY *257800 : OCULOCEREBRAL SYNDROME WITH HYPOPIGMENTATION *257850 : OCULODENTOOSSEOUS DYSPLASIA, RECESSIVE *257970 : OCULORENOCEREBELLAR SYNDROME *258120 : OHAHA SYNDROME *258150 : OLIGOSYNAPTIC INFERTILITY *258300 : OLIVOPONTOCEREBELLAR ATROPHY II *258360 : ONYCHOTRICHODYSPLASIA AND NEUTROPENIA *258400 : OPHTHALMOPLEGIA TOTALIS WITH PTOSIS AND MIOSIS *258480 : OPSISMODYSPLASIA *258501 : OPTIC ATROPHY 3; OPA3 *258700 : OPTICOCOCHLEODENTATE DEGENERATION *258850 : ORAL-FACIAL-DIGITAL SYNDROME, TYPE III *258870 : ORNITHINE AMINOTRANSFERASE DEFICIENCY *258900 : OROTICACIDURIA I *259250 : OSTEODYSPLASIA, FAMILIAL, ANDERSON TYPE *259450 : BRUCK SYNDROME *259700 : OSTEOPETROSIS, AUTOSOMAL RECESSIVE *259730 : OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS *259770 : OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME; OPPG *259780 : OTOONYCHOPERONEAL SYNDROME *259900 : OXALOSIS I *260000 : OXALOSIS II *260005 : 5-@OXOPROLINASE DEFICIENCY *260300 : PALLIDOPYRAMIDAL SYNDROME *260400 : PANCREATIC INSUFFICIENCY AND BONE MARROW DYSFUNCTION *260565 : PEHO SYNDROME *260600 : PELIZAEUS-MERZBACHER DISEASE, ACUTE INFANTILE TYPE *260800 : PENTOSURIA *261000 : PERNICIOUS ANEMIA, CONGENITAL, DUE TO DEFECT OF INTRINSIC FACTOR *261510 : PEROXISOMAL 3-OXOACYL-COENZYME A THIOLASE DEFICIENCY *261515 : PEROXISOMAL BIFUNCTIONAL ENZYME DEFICIENCY *261540 : PETERS ANOMALY WITH SHORT-LIMB DWARFISM *261600 : PHENYLKETONURIA *261630 : PHENYLKETONURIA II *261640 : 6-@PYRUVOYLTETRAHYDROPTERIN SYNTHASE; PTS *261650 : PHOSPHOENOLPYRUVATE CARBOXYKINASE 2, MITOCHONDRIAL; PCK2 *261670 : PHOSPHOGLYCERATE MUTASE, DEFICIENCY OF M SUBUNIT OF *261680 : PHOSPHOENOLPYRUVATE CARBOXYKINASE 1, SOLUBLE; PCK1 *261750 : PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE *262000 : PILI TORTI AND NERVE DEAFNESS *262300 : ACHROMATOPSIA 3; ACHM3 *262600 : PITUITARY DWARFISM III *262850 : PLASMIN INHIBITOR DEFICIENCY *263000 : PNEUMONITIS, FAMILIAL DESQUAMATIVE INTERSTITIAL; DIP *263200 : POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1; PKHD1 *263210 : POLYCYSTIC KIDNEY DISEASE, POTTER TYPE I, WITH MICROBRACHYCEPHALY, HYPERTELORISM, AND BRACHYMELIA *263400 : ERYTHROCYTOSIS, AUTOSOMAL RECESSIVE BENIGN *263520 : POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE II *263530 : POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE I *263570 : POLYGLUCOSAN BODY DISEASE, ADULT FORM; APBD *263650 : POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE *263700 : PORPHYRIA, CONGENITAL ERYTHROPOIETIC *263750 : POSTAXIAL ACROFACIAL DYSOSTOSIS; POADS *264080 : PROGESTERONE RESISTANCE; PGR *264090 : PROGEROID SYNDROME, NEONATAL *264270 : PSEUDOHERMAPHRODITISM, FEMALE, WITH SKELETAL ANOMALIES *264300 : PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA *264450 : PSEUDOMONGOLISM *264470 : PSEUDONEONATAL ADRENOLEUKODYSTROPHY *264600 : PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH *264700 : PSEUDOVITAMIN D DEFICIENCY RICKETS *264800 : PSEUDOXANTHOMA ELASTICUM, AUTOSOMAL RECESSIVE; PXE *264900 : PTA DEFICIENCY *265000 : PTERYGIUM SYNDROME *265100 : PULMONARY ALVEOLAR MICROLITHIASIS *265900 : PYLE DISEASE *265950 : PYLORIC ATRESIA *266100 : PYRIDOXINE DEPENDENCY WITH SEIZURES *266120 : PYRIMIDINE NUCLEOTIDASE DEFICIENCY, HEMOLYTIC ANEMIA FROM *266150 : PYRUVATE CARBOXYLASE DEFICIENCY *266200 : PYRUVATE KINASE DEFICIENCY OF ERYTHROCYTE *266250 : RADICULONEUROPATHY, FATAL NEONATAL *266265 : LEUKOCYTE ADHESION DEFICIENCY, TYPE II *266300 : HAIR COLOR 2; HCL2 *266350 : RED SKIN PIGMENT ANOMALY OF NEW GUINEA *266600 : INFLAMMATORY BOWEL DISEASE 1; IBD1 *266900 : RENAL DYSPLASIA AND RETINAL APLASIA *267000 : RENAL HAMARTOMAS, NEPHROBLASTOMATOSIS, AND FETAL GIGANTISM *267430 : RENAL TUBULAR DYSGENESIS *267500 : RETICULAR DYSGENESIA *267750 : KNOBLOCH SYNDROME; KNO *268080 : RETINOSCHISIS OF FOVEA *268100 : RETINOSCHISIS WITH EARLY HEMERALOPIA *268200 : RHABDOMYOLYSIS, ACUTE RECURRENT *268300 : ROBERTS SYNDROME; RBS *268310 : ROBINOW SYNDROME, RECESSIVE FORM *268800 : SANDHOFF DISEASE *268900 : SARCOSINEMIA *269250 : SCHNECKENBECKEN DYSPLASIA *269500 : SCLEROSTEOSIS *269700 : BERARDINELLI-SEIP CONGENITAL LIPODYSDROPHY; BSCL *269860 : SHORT RIB SYNDROME, BEEMER TYPE *269920 : SIALIC ACID STORAGE DISEASE; SIASD *270100 : SITUS INVERSUS VISCERUM *270200 : SJOGREN-LARSSON SYNDROME *270300 : SKIN PEELING, FAMILIAL CONTINUOUS *270550 : SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE; SACS *270600 : SPASTIC DIPLEGIA, INFANTILE TYPE *270685 : SPASTIC PARAPARESIS WITH AMYOTROPHY OF HANDS AND FEET *270700 : SPASTIC PARAPLEGIA AND RETINAL DEGENERATION *270800 : SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A *271245 : INFANTILE-ONSET SPINOCEREBELLAR ATAXIA; IOSCA *271400 : SPLENIC HYPOPLASIA *271550 : SPONDYLOENCHONDRODYSPLASIA *271600 : SPONDYLOEPIPHYSEAL DYSPLASIA TARDA *271630 : SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE *271640 : SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY; SEMDJL *271650 : SPONDYLOEPIMETAPHYSEAL DYSPLASIA, IRAPA TYPE; SEMDIT *271900 : CANAVAN DISEASE *271980 : ALDEHYDE DEHYDROGENASE 5 FAMILY, MEMBER A1; ALDH5A1 *272200 : MULTIPLE SULFATASE DEFICIENCY *272300 : SULFOCYSTEINURIA *272370 : SUSCEPTIBILITY TO LYSIS BY ALLOREACTIVE NATURAL KILLER CELLS; EC1 *272460 : SYNSPONDYLISM, CONGENITAL *272650 : TATSUMI FACTOR DEFICIENCY *272750 : TAY-SACHS DISEASE, AB VARIANT *272800 : TAY-SACHS DISEASE; TSD *273300 : TESTICULAR TUMORS *273395 : TETRA-AMELIA WITH PULMONARY HYPOPLASIA *273750 : THREE M SYNDROME *273800 : THROMBASTHENIA OF GLANZMANN AND NAEGELI *273900 : THROMBOCYTOPENIA *274000 : THROMBOCYTOPENIAABSENT RADIUS SYNDROME *274150 : THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL *274180 : THROMBOXANE A SYNTHASE 1; TBXAS1 *274190 : THUMB AGENESIS, DWARFISM, AND IMMUNODEFICIENCY *274270 : DIHYDROPYRIMIDINE DEHYDROGENASE; DPYD *274500 : THYROID HORMONOGENESIS, GENETIC DEFECT IN, IIA *274600 : PENDRED SYNDROME; PDS *274700 : THYROID HORMONOGENESIS, GENETIC DEFECT IN, III *274800 : THYROID HORMONOGENESIS, GENETIC DEFECT IN, IV *275120 : THYROTROPIN-RELEASING HORMONE DEFICIENCY *275210 : TIGHT SKIN CONTRACTURE SYNDROME, LETHAL *275250 : TONGUE, PIGMENTED FUNGIFORM PAPILLAE OF *275350 : TRANSCOBALAMIN II DEFICIENCY *275355 : TRANSFORMING GROWTH FACTOR, BETA-1 RESPONSE ELEMENT *275360 : TREHALASE *275370 : TRICARBOXYLIC ACID CYCLE, DEFECT OF *275630 : TRIGLYCERIDE STORAGE DISEASE WITH IMPAIRED LONG-CHAIN FATTY ACID OXIDATION *275900 : TROYER SYNDROME *276000 : PROTEASE, SERINE, 1; PRSS1 *276100 : TRYPTOPHANURIA WITH DWARFISM *276600 : TYROSINE TRANSAMINASE DEFICIENCY *276700 : TYROSINEMIA, TYPE I *276710 : TYROSINEMIA, TYPE III *276820 : ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY *276900 : USHER SYNDROME, TYPE IA; USH1A *276901 : USHER SYNDROME, TYPE IIA; USH2A *276902 : USHER SYNDROME, TYPE III; USH3 *276903 : MYOSIN VIIA; MYO7A *276904 : USHER SYNDROME, TYPE IC; USH1C *276905 : USHER SYNDROME, TYPE IIB; USH2B *277100 : VALINEMIA *277150 : VAN BOGAERT-HOZAY SYNDROME *277170 : VARADI-PAPP SYNDROME *277300 : SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE, 1 *277320 : VISCERAL MYOPATHY, FAMILIAL, WITH EXTERNAL OPHTHALMOPLEGIA *277350 : VITAMIN A METABOLIC DEFECT *277400 : VITAMIN B12 METABOLIC DEFECT WITH METHYLMALONICACIDEMIA AND HOMOCYSTINURIA *277410 : VITAMIN B12 METABOLIC DEFECT, TYPE 2 *277470 : VOLENDAM NEURODEGENERATIVE DISEASE *277600 : WEILL-MARCHESANI SYNDROME *277700 : WERNER SYNDROME; WRN *277730 : WERNICKE-KORSAKOFF SYNDROME *277900 : WILSON DISEASE *277950 : WINCHESTER DISEASE *278000 : WOLMAN DISEASE *278250 : WRINKLY SKIN SYNDROME; WSS *278300 : XANTHINURIA, TYPE I *278700 : XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA *278720 : XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC *278740 : XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E

99. TAR Syndrome Support Group Welcome to the TAR syndrome Support Group. Click here to enter! Click here to enter!A support group for families of children born with this rare disorder. http://www.ivh.se/TAR/

Welcome to the TAR Syndrome Support Group Click here to enter! A support group for families of children born with this rare disorder. The support group is affiliated to 'Contact a Family' in UK. The content provided on, or linked to, this Web site is for general information purposes only and is not intended to substitute a personal consultation with medical professionals. Site visitors are urged to contact a doctor for specific information regarding their personal health condition, diagnosis and medical treatment. © 1999 - 2005 TAR Syndrome Support Group, UK. All rights reserved. Webmaster erik.wennstrom@ivh.se [Last modified: 2 January 2005] http://www.ivh.se/TAR/index.htm We subscribe to the HONcode principles. Verify here

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