41. Information Center For Rare Diseases And Orphan Drugs glutaricaciduria glutaricaciduria type 1 glutaricaciduria type 2a glutaricaciduriatype 2b glutaricaciduria type 2c glutaryl coa dehydrogenase deficiency http://www.raredis.org/modules/sections/index.php?op=printpage&artid=26

42. UniProt Knowledgebase Keyword: Glutaricaciduria 12.42.224.152/library/healthguide/enus/illnesscon 12.42.224.152/library/healthguide/en-us/illnesscon glutaricaciduria conditions-and-diseases-genetic-disorders glutaricaciduria. NORD glutaricaciduria I. Offers alternate names, a generaldiscussion and resources. http://au.expasy.org/cgi-bin/get-entries?KW=Glutaricaciduria

43. Health Disorders And Diseases: Genetic Disorders/Glutaricaciduria Revised 3/16/99 ATS; 4) 156550 Kniest Dysplasia; 5) *231680 glutaricaciduria IIA; 6) 312870Simpson Dysmorphia Syndrome, SDYS; and 7) * 231675 glutaricaciduria IIC. http://www.disorder-disease.com/Genetic_Disorders/Glutaricaciduria/

HOME ADD A LINK MODIFY A LINK NEW LINKS ... LOGIN Looking for something in particular? the entire directory only this category More search options Home Genetic Disorders : Glutaricaciduria LINKS: Glutaric Aciduria Type 1 Information and links for children with GA1. http://www.ga1.freeservers.com (Added: Sat Sep 06 2003 Hits: Rating: 0.00 Votes: 0) Rate It Review It IOGA: International Organization of Glutaric Acidemia Information about the organization, their services and about the disease. Including events, newsletter, FAQs, message board and links. http://www.glutaricacidemia.org/ (Added: Sat Sep 06 2003 Hits: Rating: 0.00 Votes: 0) Rate It Review It NORD: Glutaricaciduria I Offers alternate names, a general discussion and resources. http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Glutaricaciduria%20I (Added: Sat Sep 06 2003 Hits: Rating: 0.00 Votes: 0) Rate It Review It HOME ADD A LINK ... LOGIN Site hosted by: UltraNerds Web Hosting Our: Partners

44. A Listing Of Disorders glutaricaciduria I. glutaricaciduria II. Glycogen Storage Disease VIII.Goldenhar Syndrome (Oculo Auriculo Vertebral Spectrum). Goodman Syndrome http://medschool.umaryland.edu/BTBank/Family/Disorders_G.htm

Brain and Tissue Bank University of Maryland, Baltimore G Galactosemia Galloway Mowat Syndrome Gardner Syndrome Gastritis, Giant Hypertrophic Gastroschisis Gaucher Disease Gerstmann Syndrome Gianotti Crosti Syndrome Giardiasis Gilbert Syndrome Glioblastoma Multiforme Glucose Galactose Malabsorption Glucose-6-Phosphate Dehydrogenase Deficiency Glutaricaciduria I Glutaricaciduria II Glycogen Storage Disease VIII Goldenhar Syndrome (Oculo Auriculo Vertebral Spectrum) Goodman Syndrome Goodpasture Syndrome Gordon Syndrome Gorham's Disease Gorlin Chaudhry Moss Syndrome Gottron's Syndrome Graft versus Host Disease Granulomatosis, Lymphomatoid Granulomatous Disease, Chronic Greig Cephalopolysyndactyly Syndrome Grover's Disease Growth Delay, Constitutional Growth Hormone Deficiency

45. Enzyme Electrontransferring-flavoprotein dehydrogenase glutaricaciduria IIA; MIN231680.Enoyl-CoA hydratase Trifunctional protein deficiency, type 2; http://www.changbioscience.com/enzyme/edisease.htm

Online Download Store Contact ... About The Electronic Protocol Book Table of contents BioToolKit 300 Download Trials An electronic protocol book with 500 protocols and 100 recipes. A great quick and practical reference for bench scientists as well as for new students. Get A Copy A collection of tools frequently used by bench biomedical scientists, ranging from centrifugation force conversion, molecular weight, OD, recipe calculators, to clinical calculators. Include all Primo 3.4, Abie 3.0, Heatmap Viewer, MicroHelper, Godlist Manager, label printing, and grade book. More info Enzymes A-Z A B C ... Diseases Web ChangBioscience.com (R)-3-amino-2-methylpropionatepyruvate transaminase : Hyper-beta-aminoisobutyricaciduria; MIN:210100 1,4-alpha-glucan branching enzyme : Glycogen storage disease IV; MIN:232500 1-pyrroline-5-carboxylate dehydrogenase : Hyperprolinemia II; MIN:239510 11-beta-hydroxysteroid dehydrogenase : Apparent mineralocorticoid excess (AME), type 1; MIN:218030 2-acetyl-1-alkylglycerophosphocholine esterase : Platelet-activating factor acetylhydrolase deficiency;

46. Maladies Rares, Maladies Orphelines glutaricaciduria I glutaricaciduria II Glycogen Storage Disease VIII GoldenharSyndrome (Oculo Auriculo Vertebral Spectrum) Goodman Syndrome http://www.fmo.easynetonline.net/anciensite/listnord.html

Maladies rares maladies orphelines ATTENTION : VOUS ETES SUR L'ANCIEN SITE DE LA FEDERATION DES MALADIES ORPHELINES Vous pouvez vous diriger vers le nouveau site en cliquant - ici Retour Liste NORD http://www.rarediseases.org/lof/lof.html Rare Disease Database - RDB 5 Oxoprolinuria A Aarskog Syndrome Aase Syndrome Ablepharon Macrostomia Syndrome Acanthocheilonemiasis Acanthocytosis Acanthosis Nigricans Achalasia Achard Thiers Syndrome Achondrogenesis Achondroplasia Acidemia, Isovaleric Acidemia, Methylmalonic Acidemia, Propionic Acne Rosacea Acoustic Neuroma Acrocallosal Syndrome, Schinzel Type Acrodermatitis Enteropathica Acrodysostosis Acromegaly Acromesomelic Dysplasia Acromicric Dysplasia ACTH Deficiency Adams Oliver Syndrome Addison's Disease Adie Syndrome Adrenal Hyperplasia, Congenital (General) Adrenoleukodystrophy Afibrinogenemia, Congenital Agammaglobulinemias, Primary Agenesis of Corpus Callosum Agnosia, Primary Visual Agranulocytosis, Acquired Ahumada Del Castillo Syndrome Aicardi Syndrome AIDS (Acquired Immune Deficiency Syndrome) AIDS Dysmorphic Syndrome Alagille Syndrome Albinism Alexander's Disease Alkaptonuria Allan Herndon Syndrome Alopecia Areata Alpers Disease Alpha-1-Antitrypsin Deficiency Alport Syndrome Alstrom Syndrome Alternating Hemiplegia of Childhood Alveolitis, Extrinsic Allergic

47. Maladies Rares, Maladies Orphelines glutaricaciduria I glutaricaciduria II glycerol kinase deficiency glycogen storagedisease type I glycogen storage disease type II http://www.fmo.easynetonline.net/anciensite/listord.html

Maladies rares maladies orphelines ATTENTION : VOUS ETES SUR L'ANCIEN SITE DE LA FEDERATION DES MALADIES ORPHELINES Vous pouvez vous diriger vers le nouveau site en cliquant - ici Retour Office of Rare Diseases Rare Diseases List A B C D ... Z A achalasia Achard-Thiers syndrome achondrogenesis achondroplasia achondroplastic dwarfism achromatopsia acid maltase deficiency acne rosacea acoustic neuroma acquired agranulocytosis acquired autoimmune hemolytic anemia acquired syphilis acrocallosal syndrome, Schinzel type acrodermatitis acrodermatitis enteropathica acrodysostosis acromegaly ACTH deficiency Actinomycetales infection acute (altitude) mountain sickness acute idiopathic polyneuritis acute intermittent porphyria acute lymphocytic leukemia acute myelocytic leukemia acute myelogenous leukemia acute necrotizing ulcerative gingivitis acute posterior multifocal placoid pigment epitheliopathy acute renal failure Adams-Oliver syndrome Addison's disease adenocarcinoid adenocarcinoma adenoid cystic carcinoma adenomelablastoma adenosine deaminase deficiency Adie syndrome adiposa dolorosa (Dercum's disease) adrenal cancer adrenal disorder adrenal hypertension adrenal insufficiency

48. Current Opinion In Pediatrics - UserLogin such as LeschNyhan syndrome, glutaricaciduria type I, juvenile neuronal described in the literature as mimicking CP is glutaricaciduria type 1, http://www.co-pediatrics.com/pt/re/copeds/fulltext.00008480-199912000-00005.htm

LWWOnline LOGIN eALERTS REGISTER ... Archive You are attempting to access protected content. To access this content please login using an established account or create/activate an account. If you have already created/ activated an online account, please login below: User Name: Password: Note: passwords are CASE SENSITIVE If you are a new user or guest visiting an LWWonline site for the first time, please complete the new account setup process to view or purchase content. Forgot your password? Subscribe Renewal Information Subscribe to RSS feed utrdc-pt01 Release 4.0

49. Table 14 glutaricaciduria, type I. PhKgamma, 2665 ± 152, 6.9, 1.00E111, 172471 glutaricaciduria, type IIB, 231680, EP(2)2553, l(2)k00405. Pvr, 294 ± 26 http://genomebiology.com/2004/5/9/r69/table/T14

Table 14 Drosophila tubule as a model for human genetic disease Gene Affymetrix signal Enrichment Blast probability OMIM reference Human disease Available fly stocks Colchicine resistance Mucopolysaccharidosis IVA Ir Bartter syndrome, antenatal, 601678 ry Xanthinuria, type I, 278300 Anterior segment mesenchymal dysgenesis and cataract, 107250 Fmo-1 [Fish-odor syndrome], 602079 Oculocutaneous albinism, type IV, 606574 Citrullinemia, 215700 Emphysema; emphysema-cirrhosis, hemorrhagic diathesis due to Ceroid-lipofuscinosis, neuronal-3, juvenile, 204200 Gynecomastia, familial, due to increased aromatase activity GABA-transaminase deficiency Ketoacidosis due to SCOT deficiency Glutaricaciduria, type I PhKgamma Glycogenosis, hepatic, autosomal Charcot-Marie-Tooth disease, mixed axonal and demyelinating l(3)j7B3 Convulsions, familial febrile, 4, 604352 KCNQ Epilepsy, benign, neonatal, type 1, 121200; myokymia with neonatal Cystinosis, atypical nephropathic; cystinosis, late-onset juvenile Chondrodysplasia punctata, X-linked recessive, 302950 Spat Hyperoxaluria, primary, type 1, 259900

50. Metabolic Genetic Conditions short chain acylcoA dehyrogenase deficiency (SCAD), electron transferflavoprotein (ETF) dehydrogenase deficiency (glutaricaciduria) GAII and MADD), http://www.kumc.edu/gec/support/metaboli.html

Metabolic Conditions Includes: aspartylglusomarinuria, biotinidase deficiency , carbohydrate deficient glycoprotein syndrome (CDGS), Crigler-Najjar syndrome , cystinosis, diabetes insipidus, Fabry fatty acid metabolism disorders galactosemia , Gaucher, glucose-6-phosphate dehydrogenase (G6PD), glutaric aciduria , Hurler, Hurler-Scheie, Hunter, hypophosphatemia, I-cell, Krabbe , lactic acidosis, long chain 3 hydroxyacyl CoA dehydrogenase deficiency (LCHAD), lysosomal storage diseases, mannosidosis maple syrup urine , Maroteaux-Lamy, metachromatic leukodystrophy, mitochondrial , Morquio, mucopolysaccharidosis , neuro-metabolic, Niemann-Pick, organic acidemias , purine, phenylketonuria (PKU) , Pompe, porphyria , pseudo-Hurler, pyruvate dehydrogenase deficiency, Sandhoff, Sanfilippo, Scheie, Sly, Tay-Sachs, trimethylaminuria (Fish-Malodor syndrome) urea cycle conditions , vitamin D deficiency rickets Association for Neuro-Metabolic Disorders 5223 Brookfield Lane Sylvania, OH 43560-1809 Phone: (419) 885-1497 E-mail: volk4olks@aol.com

51. Human Protein: P38117 - Electron Transfer Flavoprotein Beta-subunit (Beta-ETF). The gene deficiencies have been implicated in type II glutaricaciduria.Alternatively spliced transcript variants have been found for this gene. http://harvester.embl.de/harvester/P381/P38117.htm

Human protein: P38117 - Electron transfer flavoprotein beta-subunit (Beta-ETF). EMBL FORUM Length: 255 aa , molecular weight: 27844 Da , CRC64 checksum: MAELRVLVAV KRVIDYAVKI RVKPDRTGVV TDGVKHSMNP FCEIAVEEAV RLKEKKLVKE 60 VIAVSCGPAQ CQETIRTALA MGADRGIHVE VPPAEAERLG PLQVARVLAK LAEKEKVDLV 120 LLGKQAIDDD CNQTGQMTAG FLDWPQGTFA SQVTLEGDKL KVEREIDGGL ETLRLKLPAV 180 VTADLRLNEP RYATLPNIMK AKKKKIEVIK PGDLGVDLTS KLSVISVEDP PQRTAGVKVE 240 TTEDLVAKLK EIGRI 255 // SOURCE BLAST OMIM SMART ... GoTo: SOURCE @ Stanford University ETFB Electron-transfer-flavoprotein, beta polypeptide UniGene LocusLink OMIM GenAtlas ... Genome Browser Aliases FP585; MADD electron transfer flavoprotein beta subunit electron transfer flavoprotein beta-subunit electron transfer flavoprotein, beta polypeptide electron-transfer-flavoprotein, beta polypeptide isoform 1 electron-transfer-flavoprotein, beta polypeptide isoform 2 electron-transferring-flavoprotein, beta polypeptide Chromosomal Location Chromosome/Cytoband Microarray Gene Expression Data Data available Show Gene Expression Data LocusLink Information Locus Link Summary This gene encodes electron-transfer-flavoprotein, beta polypeptide, which shuttles electrons between primary flavoprotein dehydrogenases involved in mitochondrial fatty acid and amino acid catabolism and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. The gene deficiencies have been implicated in type II glutaricaciduria. Alternatively spliced transcript variants have been found for this gene.

52. Human Protein: P13804 - Electron Transfer Flavoprotein Alpha-subunit, Mitochondr have been implicated in type II glutaricaciduria in which multiple acylCoA also known as glutaricaciduria iia. gaiia results in the excretion not http://harvester.embl.de/harvester/P138/P13804.htm

Human protein: P13804 - Electron transfer flavoprotein alpha-subunit, mitochondrial precursor (Alpha-ETF). EMBL FORUM Length: 333 aa , molecular weight: 35080 Da , CRC64 checksum: MFRAAAPGQL RRAASLLRFQ STLVIAEHAN DSLAPITLNT ITAATRLGGE VSCLVAGTKC 60 DKVAQDLCKV AGIAKVLVAQ HDVYKGLLPE ELTPLILATQ KQFNYTHICA GASAFGKNLL 120 PRVAAKLEVA PISDIIAIKS PDTFVRTIYA GNALCTVKCD EKVKVFSVRG TSFDAAATSG 180 GSASSEKASS TSPVEISEWL DQKLTKSDRP ELTGAKVVVS GGRGLKSGEN FKLLYDLADQ 240 LHAAVGASRA AVDAGFVPND MQVGQTGKIV APELYIAVGI SGAIQHLAGM KDSKTIVAIN 300 KDPEAPIFQV ADYGIVADLF KVVPEMTEIL KKK 333 // SOURCE BLAST OMIM SMART ... GoTo: SOURCE @ Stanford University ETFA Electron-transfer-flavoprotein, alpha polypeptide (glutaric aciduria II) UniGene LocusLink OMIM GenAtlas ... Genome Browser Chromosomal Location Chromosome/Cytoband Microarray Gene Expression Data Data available Show Gene Expression Data LocusLink Information Locus Link Summary ETFA participates in catalyzing the initial step of the mitochondrial fatty acid beta-oxidation. It shuttles electrons between primary flavoprotein dehydrogenases and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. Defects in electron-transfer-flavoprotein have been implicated in type II glutaricaciduria in which multiple acyl-CoA dehydrogenase deficiencies result in large excretion of glutaric, lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. SwissProt Information

53. Health: Conditions And Diseases: Genetic Disorders: Glutaricaciduria Directory M glutaricaciduria Web Directory, find information for glutaricaciduria related websites. http://www.meta4.uk.com/directory/Health/Conditions_and_Diseases/Genetic_Disorde

Glutaricaciduria Directory Web Search Home Health Conditions and Diseases Genetic Disorders : Glutaricaciduria Glutaric Aciduria Type 1 Information and links for children with GA1. http://www.ga1.freeservers.com IOGA: International Organization of Glutaric Acidemia Information about the organization, their services and about the disease. Including events, newsletter, FAQs, message board and links. http://www.glutaricacidemia.org/ NORD: Glutaricaciduria I Offers alternate names, a general discussion and resources. http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Glutaricaciduria%20I Pediatric Database A definition of glutaric aciduria, epidemiology, pathogenesis, clinical features, investigations and management. http://www.icondata.com/health/pedbase/files/GLUTARIC.HTM Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Home ... Genetic Disorders : Glutaricaciduria : Category ID Health: Conditions and Diseases: Genetic Disorders: Glutaricaciduria Directory : Glutaricaciduria Reviewed Websites UK

54. Rare Diseases - Medword Medical Transcription 6, Phosphate Dehydrogenase Deficiency glutaricaciduria I glutaricaciduriaII Glycogen Storage Disease VIII Goldenhar Syndrome (Oculo Auriculo http://www.medword.com/RareDiseasesListText.html

Rare Diseases: Disorders: Text Format Rare Diseases Here is a comma-delimited list of NORD's Rare Diseases To add these words to your spell checker: With your word-processing program or a text editor open, use your mouse to select all the words below in one group. Then, while the words are still selected, copy the words by keying <CTRL>+<C>. This copies the selected text to your computer's "clipboard." Go to a new page in your word-processing program or text editor and key <CTRL><V>. This "pastes" the words onto the page from your computer's "clipboard." Now run your spell-checking feature as you normally would and just add any words your spell checker program does not recognize, keeping in mind the cautions outlined above. The drug and product words and word-groups listed below are separated by a "pipe" character. - - - - START COPYING JUST BELOW HERE - - - - - - - - STOP COPYING JUST ABOVE HERE - - - - Previous Page Medword Home Page Very Important: Please use the above information at your own risk. While we make every effort to ensure accuracy, we cannot be held responsible for errors in spelling or capitalization, or any circumstance that may result because of said error. When using

55. Profile Organic acidemias, in particular glutaricaciduria; neurochemistry and neuropathologicalaspects, animal models of metabolic disorders http://myprofile.cos.com/aprasad

Dr. Asuri Narayan Prasad powered by COS Expertise University of Western Ontario Medicine Pediatrics/Clinical Neurosciences Associate Professor Appointed: 2003 Mailing Address Section of Clinical Neurosciences, Dept. of Pediatrics 5 South, B509 (Tower 1) Children's Hospital of Western Ontario 800 Commissioners Road East London, Ontario N6A 4G5 Canada Contact Information Phone: (519) 685-8500, ext. 58143 Qualifications FRCPE, Royal College of Physicians of Edinburgh, Pediatrics, 2004. FAAP, American Academy of Pediatrics, Pediatrics, 1997. Diplomate, American Board of Psychiatry and Neurology, Neurology and Child Neurology, 1996. FRCPC, Royal College of Physicians and Surgeons of Canada, Neurology, 1996. Diplomate, American Board of Pediatrics, Pediatrics, 1992. FRCPC, Royal College of Physicians and Surgeons of Canada, Pediatrics, 1992. MRCP (UK), Royal College of Physicians of the United Kingdom, Pediatrics, 1987. M.D., Postgraduate Institute of Medical Education and Research, Pediatrics, 1984. MBBS, University of Delhi, Medicine and Surgery, 1981. Expertise and Research Interests My research interests are based in child neurology and epilepsy, and basic science aspects of neurological disorders encountered in clinical practice.

56. Related Sites Galactosemia Glucose6-Phosphate Dehydrogenase Deficiency glutaricaciduria I glutaricaciduria II Hypothyroidism Maple Syrup Urine Disease http://www.savebabies.org/sitesofinterest.php

Search Our Site! Other Sites of Interest Use of this site implies that the user acknowledges and agrees to the Family-Based Disease Support Groups American Sickle Cell Association ASK NOW Biotinidase Deficiency Family Support Group CARES Foundation (CAH) Children's PKU Network Cystic Fibrosis Foundation Family Friendly Health Topics Fatty Oxidation Disorder Family Support Group ... United Mitochondrial Disease Foundation NOTE: If a support group doesn't currently exist for your disorder, you may want to consider starting one. You should check with the organizations like the Genetic Alliance or American Self Help Group Clearing House to find out if they have a group listed for your disorder that you could join, and, if not, they can help guide you in how to start one. General Support Resources Exceptional Parent Magazine Mercy Medical Airlift MUMS - National Parent-to-Parent Network Needy Meds ... Free Medicine Program Bereavement Links Sherokee Ilse's Coalition for Positive Outcomes in Pregnancy Website Bereaved Parents EternaLight Memorial Newborn Screening Organizations Institute of Research in Mental and Neurological Handicap - India NBS International Society for Neonatal Screening Metabolic Screening Laboratory - Research Centre of King Faisal Specialist Hospital in Riyadh, Saudi Arabia

57. *608801 GLUTARYL-CoA DEHYDROGENASE; GCDH (2001) described a patient with glutaricaciduria type I (231670) who was homozygousfor a glu365to-lys (E365K) substitution in the GCDH gene, http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:608801] -e

58. *200150 CHOREOACANTHOCYTOSIS; CHAC *200350 ACETYL-CoA GUSM *231670 GLUTARICACIDEMIA I *231675 glutaricaciduria IIC *231680 glutaricaciduria IIA *231950 GLUTATHIONURIA *232000 PROPIONICACIDEMIA, 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

59. Health Library glutaricaciduria I glutaricaciduria II Glycogen Storage Disease Type V Glycogen Storage Disease VIII Glycoprotein IIb/IIIa inhibitors for heart http://yalenewhavenhealth.org/library/healthguide/en-us/illnessconditions/Search

60. Hupo_Omim IPI00032875.1, ENSG00000171503.2, 231675, glutaricaciduria, type IIC (3) IPI00010810.1, ENSG00000140374.5, 231680, glutaricaciduria, type IIA (1) http://www.bioinformatics.med.umich.edu/hupo/ppp/Hupo_Omim.html

IPIAccessionNumber Ensembl GeneID OmimID Omim disease description Williams-Beuren syndrome, 194050 (3) Xeroderma pigmentosum, group C (3) Glanzmann thrombasthenia, type A (3) [AMP deaminase deficiency, erythrocytic] (3) Pancreatic cancer (3) Desmoid disease, hereditary, 135290 (3) Leukemia, acute lymphoblastic (1) Dysfibrinogenemia, alpha type, causing recurrent thrombosis (3) Colorectal cancer, hereditary nonpolyposis, type 3 (3) Carboxypeptidase B deficiency (1) Severe combined immunodeficiency, B cell-negative, 601457 (3) Selective T-cell defect (3) Factor H deficiency (1) Deafness, autosomal dominant 11, neurosensory, 601317 (3) Werner syndrome (3) Supravalvar aortic stenosis, 185500 (3) Muir-Torre syndrome, 158320 (3) Bardet-Biedl syndrome 2 (2) Mucopolysaccharidosis Is (3) [CD4(+) lymphocyte deficiency] (2) Retinitis pigmentosa-7, peripherin-related (3) Renal tubular acidosis, distal, 179800 (3) White sponge nevus, 193900 (3) N syndrome, 310465 (1) (?) Juberg-Marsidi syndrome, 309590 (3) Lowe syndrome (3) Apolipoprotein A-II deficiency (3) Kallmann syndrome (3) Night blindness, congenital stationary, type 3, 163500 (3)

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