MARC details
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16023cam a2200577 i 4500 |
| 001 - CONTROL NUMBER |
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GVRL8TYQ |
| 003 - CONTROL NUMBER IDENTIFIER |
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MiFhGG |
| 005 - DATE AND TIME OF LATEST TRANSACTION |
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20210202122806.0 |
| 006 - FIXED-LENGTH DATA ELEMENTS--ADDITIONAL MATERIAL CHARACTERISTICS--GENERAL INFORMATION |
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m o d |
| 007 - PHYSICAL DESCRIPTION FIXED FIELD--GENERAL INFORMATION |
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cr un ---uuuua |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION |
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| fixed length control field |
150708t20162016miua obe 001 0 eng d |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER |
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| ISBN |
9781410332806 |
| Qualifying information |
(electronic book) |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER |
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| Cancelled/invalid ISBN |
9781410332813 |
| Qualifying information |
(set : alk. paper) |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER |
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| Cancelled/invalid ISBN |
9781410332820 |
| Qualifying information |
(volume 1 : alk. paper) |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER |
|---|
| Cancelled/invalid ISBN |
9781410332837 |
| Qualifying information |
(volume 2 : alk. paper) |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER |
|---|
| Cancelled/invalid ISBN |
9781410332844 |
| Qualifying information |
(volume 3 : alk. paper) |
| 035 ## - SYSTEM CONTROL NUMBER |
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| System control number |
(OCoLC)941831042 |
| 040 ## - CATALOGING SOURCE |
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| Original cataloging agency |
MiFhGG |
| Language of cataloging |
eng |
| Transcribing agency |
MiFhGG |
| Description conventions |
rda |
| -- |
pn |
| 050 #4 - Library of Congress Classification |
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| Library of Congress Class mark |
RB155.5 |
| 060 10 - NATIONAL LIBRARY OF MEDICINE CALL NUMBER |
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| Classification number |
QZ 13 |
| 245 04 - TITLE STATEMENT |
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| Title |
The Gale encyclopedia of genetic disorders / |
| Statement of responsibility, etc |
Tracie Moy, editor, Laura Avery, editor. |
| 246 1# - VARIANT TITLE |
|---|
| Title |
Encyclopedia of genetic disorders |
| 250 ## - EDITION |
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| Edition statement |
Fourth edition. |
| 264 #1 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE |
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| Place of production, publication, distribution, manufacture |
Farmington Hills, Mich. : |
| Name of producer, publisher, distributor, manufacturer |
Gale, Cengage Learning, |
| Date of production, publication, distribution, manufacture, or copyright notice |
[2016] |
| 264 #4 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE |
|---|
| Date of production, publication, distribution, manufacture, or copyright notice |
©2016 |
| 300 ## - PHYSICAL DESCRIPTION |
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| Physical description |
1 online resource (3 volumes) : |
| Other physical details |
illustrations (chiefly color) |
| 336 ## - CONTENT TYPE |
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| Content type term |
text |
| Source |
rdacontent |
| 337 ## - MEDIA TYPE |
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| Media type term |
computer |
| Source |
rdamedia |
| 338 ## - CARRIER TYPE |
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| Carrier type term |
online resource |
| Source |
rdacarrier |
| 490 0# - SERIES TITLE |
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| Series statement |
Gale virtual reference library |
| 504 ## - BIBLIOGRAPHY, ETC. NOTE |
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| Bibliography, etc |
Includes bibliographical references and index. |
| 505 0# - CONTENTS |
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| Contents |
18p deletion syndrome -- 18q deletion syndrome -- 22q11.2 deletion syndrome -- 22q13 deletion syndrome -- 3-m syndrome -- 13-methylglutaconic aciduria type 2 -- 46,xx testicular disorder of sex development -- Aarskog syndrome -- Abetalipoproteinemia -- Absence of vas deferens -- Accutane embryopathy -- Aceruloplasminemia -- Achondrogenesis -- Achondroplasia -- ACHOO syndrome -- Acrocallosal syndrome (ACLS) Schinzel type-Joubert syndrome and related disorders -- Acromegaly -- Adams-Oliver syndrome -- Adelaide-type craniosynostosis -- Adenylosuccinate lyase deficiency -- Adrenoleukodystrophy -- Agenesis of the corpus callosum -- Aicardi syndrome -- Ala dehydratase deficiency -- Alagille syndrome -- Albinism -- Alcoholism -- Alexander disease -- Alkaptonuria -- Alpha thalassemia -- Alpha-1 antitrypsin deficiency -- Alpha-thalassemia x-linked intellectual disability syndrome -- Alport syndrome -- Alstrom syndrome -- Alzheimer's disease -- Ambiguous genitalia -- Amelia -- Amelogenesis imperfecta -- Amniocentesis -- Amyloidosis -- Amyotrophic lateral sclerosis -- Androgen insensitivity syndrome -- Anencephaly -- Angelman syndrome -- Ankylosing spondylitis -- Apert syndrome -- Arginase deficiency -- Arnold-Chiari malformation -- Arthrogryposis multiplex congenita -- Arthropathy-camptodactyly syndrome -- Asperger syndrome -- Asplenia -- Asthma -- Astrocytoma -- Ataxia-telangiectasia -- Attention deficit hyperactivity disorder -- Atypical Singleton-Merten syndrome -- Autism spectrum disorders -- Autosomal dominant multiple pterygium syndrome -- AUTS2 syndrome -- Bardet-biedl syndrome -- Beare-Stevenson cutis gyrata syndrome -- Beckwith-Wiedemann syndrome -- Beta thalassemia -- Bicuspid aortic valve -- Biotinidase deficiency -- Bipolar disorder -- Birt-Hogg-Dube syndrome -- Bloom syndrome -- Blue rubber bleb nevus syndrome -- Brachydactyly -- Branchiootonglyrenal (BOR) syndrome -- Breast cancer -- Bruton agammaglobulinemia -- Campomelic dysplasia -- Camurati-Engelmann disease -- Canavan disease -- Cancer -- Cancer genetics -- Cardiofaciocutaneous syndrome -- Carnitine palmitoyltransferase deficiency -- Carpenter syndrome -- Caudal dysplasia -- Cecr1 gene-recurrent fevers and strokes in children -- Celiac disease -- Cell-free DNA test -- Cenani-Lenz syndrome -- Central core disease -- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) -- Cerebral palsy -- Channelopathies -- Charcot-Marie-tooth disease -- Charge syndrome -- Chediak-Higashi syndrome -- Chondrodysplasia punctata -- Chondrosarcoma -- CHOPS syndrome -- Chorionic villus sampling -- Choroideremia -- Chromosomal abnormalities -- Chromosome -- Cleft lip and palate -- Cleidocranial dysplasia -- Clubfoot -- Cockayne syndrome -- CODAS syndrome -- Coffin-Lowry syndrome -- Coffin-Siris syndrome -- Cohen syndrome -- Cole-carpenter syndrome -- Colitis -- Collagenopathy, types II and XI -- Coloboma -- Color blindness -- Combined pituitary hormone deficiency -- Cone-rod dystrophy -- Congenital adrenal hyperplasia -- Congenital contractural arachnodactyly -- Congenital heart disease -- Congenital hypothyroid syndrome -- Congenital microcoria -- Conjoined twins -- Connectome genetics -- Corneal dystrophy -- Cornelia de lange syndrome -- Costello syndrome -- Cowden syndrome -- Crane-Heise syndrome -- Craniofacial macrosomia -- Craniosynostosis -- Creutzfeldt-Jakob disease -- Cri du chat syndrome -- CRISPR/Cas -- Crohn's disease -- Crouzon syndrome -- Crouzonodermoskeletal syndrome -- Cystic brosis -- Cystinosis -- Cystinuria -- Dandy-walker malformation -- De novo -- Ementia, hereditary forms -- Dent disease -- Dentatorubral-pallidoluysian atrophy -- Depression -- Diabetes -- Diamond-Blackfan anemia -- Diastrophic dysplasia -- DNA (deoxyribonucleic acid) -- Donohue syndrome -- Down syndrome -- Duane retraction syndrome -- Dubowitz syndrome -- Duchenne and Becker muscular dystrophy -- Dyschondrosteosis -- Dysplasia -- Dystonia -- Ectodermal dysplasia -- Ectrodactyly-ectodermal dysplasia-clefting syndrome -- Edwards syndrome -- Ehlers-Danlos syndrome -- Ellis-van Creveld syndrome -- Emery-Dreifuss muscular dystrophy -- Encephalocele -- Epidermolysis bullosa -- Epilepsy -- Erythropoietic porphyria -- Erythropoietic protoporphyria -- Essential hypertension -- Essential tremor -- Exome sequencing -- |
| 505 8# - CONTENTS |
|---|
| Contents |
Fabry disease -- Facioscapulohumeral muscular dystrophy -- Factor V Leiden thrombophilia -- Familial adenomatous polyposis -- Familial dysautonomia -- Familial idiopathic basal ganglia calcification -- Familial lipoprotein iipase deficiency -- Familial Mediterranean fever -- Fanconi anemia -- Fanconi-Bickel syndrome -- Feingold syndrome -- Fetal alcohol syndrome -- FG syndrome -- Fibroblast growth factor receptor-related conditions -- First-trimester pregnancy screening -- Fluorescent in situ hybridization -- Focal dermal hypoplasia -- Fragile x syndrome -- Fraser syndrome -- Freeman-Sheldon syndrome -- Friedreich ataxia -- Frontonasal dysplasia -- Frontotemporal dementia -- Fryns syndrome -- Galactosemia -- Galactosialidosis -- Gastric cancer -- Gastroschisis -- Gaucher disease -- Gene -- Gene fusion -- Gene mutations -- Gene panel testing -- Gene pool -- Gene therapy -- Genetic counseling -- Genetic disorders -- Genetic information nondiscrimination act (GINA) -- Genetic mapping -- Genetic testing -- Genetics and congenital anomalies -- Genome -- Genome sequencing -- Genome- and epigenome-wide association studies -- Genotype and phenotype -- Genotype tissue expression project (GTEX) -- Giant congenital melanocytic nevus -- Glanzmann thrombasthenia -- Glaucoma -- Glycine encephalopathy -- Glycogen storage diseases -- GM1-gangliosidosis -- Greig cephalopolysyndactyly -- Griscelli syndrome -- Haim-Munk syndrome -- Hair loss syndromes -- Hallermann-Streiff syndrome -- Hand-foot-genital syndrome -- Harlequin ichthyosis -- Hemihypertrophy (hemihyperplasia) -- Hemochromatosis -- Hemolytic-uremic syndrome -- Hemophilia -- Hepatocellular carcinoma -- Herceptin -- Hereditary angioneurotic edema -- Hereditary colorectal cancer -- Hereditary coproporphyria -- Hereditary desmoid disease -- Hereditary hearing loss and deafness -- Hereditary hemorrhagic telangiectasia -- Hereditary hypertrophic cardiomyopathy -- Hereditary multiple osteochondromas -- Hereditary neuropathy with liability to pressure palsies -- Hereditary pancreatitis -- Hereditary spastic paraplegia -- Hereditary spherocytosis -- Hermansky-Pudlak syndrome -- Hermaphroditism -- Hirschsprung disease -- Holoprosencephaly -- Holt-Oram syndrome -- Homocystinuria -- Human genome project -- Huntington's disease -- Hutchinson-Gilford progeria syndrome -- Hydrocephalus -- Hydrolethalus syndrome 1 (HLS1) -- Hydrops fetalis -- Hyperlipoproteinemia -- Hyperoxaluria -- Hyperphenylalaninemia -- Hypochondrogenesis -- Hypochondroplasia -- Hypophosphatasia -- Hypophosphatemia -- Hypospadias and epispadias -- Ichthyosis -- Imprinting -- Incontinentia pigmenti -- Inheritance -- Inherited arrhythmia -- Jackson-Weiss syndrome -- Jacobsen syndrome -- Jervell and Lange-Nielsen syndrome -- Joubert syndrome -- Kabuki syndrome -- Kallmann syndrome -- Karyotype -- Keppen-Lubinsky syndrome -- Klinefelter syndrome -- Klippel-Feil syndrome -- Klippel-Trenaunay-Weber syndrome -- Kniest dysplasia -- Krabbe disease -- L1 syndrome -- Langer-Saldino achondrogenesis -- Larsen syndrome -- Laterality sequence -- Leber congenital amaurosis -- Lebers hereditary optic atrophy -- Leigh syndrome -- Lesch-Nyhan syndrome -- Leukodystrophy -- Li-Fraumeni syndrome -- Limb-girdle muscular dystrophy -- Lissencephaly -- Long QT syndrome -- Lowe oculocerebrorenal syndrome -- Lupus -- Lynch syndrome -- Macular degeneration, age-related -- Major histocompatibility complex -- Male infertility -- Malignant hyperthermia -- Mannosidosis -- Marfan syndrome -- Marshall syndrome -- Marshall-Smith syndrome -- MCAD deficiency -- McCune-Albright syndrome -- McKusick-Kaufman syndrome -- Meckel-Gruber syndrome -- Meckel's diverticulum -- Menkes syndrome -- Metaphyseal dysplasia -- Methemoglobinemia, beta-globin type -- Methylmalonic acidemia -- Micro syndrome -- Microbiome -- Microcephaly (childhood) -- Microcephaly and hypomyelination -- Microcephaly with spastic diplegia -- Microphthalmia with linear skin defects -- Miller-Dieker syndrome -- Mitochondrial disease -- Moebius syndrome -- Monosomy 1p36 syndrome -- Mowat-Wilson syndrome -- Moyamoya -- Mucolipidosis -- Mucopolysaccharidoses -- Muir-Torre syndrome -- Multifactorial inheritance -- Multiple endocrine neoplasia -- Multiple epiphyseal dysplasia -- Multiple lentigines syndrome -- Multiple sclerosis -- Multiplex ligation-dependent probe amplification -- Muscular dystrophy -- Myasthenia gravis -- MYH9-related disorders -- Myopia -- Myotonia congenita -- Myotonic dystrophy -- Myotubular myopathy -- Nail-patella syndrome -- Nance-Insley syndrome -- Narcolepsy -- Nephrogenic diabetes insipidus -- Neu-Laxova syndrome -- Neural tube defects -- Neurofibromatosis -- Neuronal ceroid lipofuscinoses -- Nevoid basal cell carcinoma -- Next-generation sequencing -- NGLY1 deficiency -- Niemann-Pick disease -- Nijmegen breakage syndrome -- Noonan syndrome -- Norrie disease -- Obesity -- Oculodentodigital syndrome -- Oligohydramnios sequence -- Omphalocele -- Oncogene -- Opitz syndrome -- Oral-facial-digital syndrome -- Organic acidemias -- Ornithine transcarbamylase deficiency -- Osteoarthritis -- Osteogenesis imperfecta -- Osteoporosis -- Osteosarcoma -- Otopalatodigital syndrome -- Ovarian cancer -- |
| 505 8# - CONTENTS |
|---|
| Contents |
Pallister-Hall syndrome -- Pallister-Killian syndrome -- Pancreatic beta cell agenesis -- Pancreatic cancer -- Panic disorder -- Pantothenate kinase-associated neurodegeneration -- Parkes weber syndrome -- Parkinson's disease -- Paroxysmal nocturnal hemoglobinuria -- Patent ductus arteriosus -- Pedigree analysis -- Pelizaeus-Merzbacher disease -- Pendred syndrome -- Pervasive developmental disorders -- Peutz-Jeghers syndrome -- Pfeiffer syndrome -- Pharmacogenetics -- Phenylketonuria (PKU) -- Pierre-Robin sequence -- Poland anomaly -- Polycystic kidney disease -- Polycystic ovary syndrome -- Polydactyly -- Pompe disease -- Pontocerebellar hypoplasia (PCH) -- Porphyrias -- Prader-Willi syndrome -- Preimplantation genetic diagnosis -- Prenatal ultrasound -- Primary ciliary dyskinesia -- Primary familial brain calcification -- Primordial dwarfism -- Prion diseases -- Propionic acidemia -- Prostate cancer -- Protein C deficiency -- Protein S deficiency -- Proteus syndrome -- PRPS1 gene mutation, progressive hearing loss -- Prune-Belly syndrome -- Pseudo-Gaucher disease -- Pseudoachondroplasia -- Pseudoxanthoma elasticum -- PTSD (post-traumatic stress disorder) -- Pulmonary arterial hypertension -- Pyloric stenosis -- Pyruvate carboxylase deficiency -- Pyruvate dehydrogenase complex deficiency -- Pyruvate kinase deficiency -- Raynaud's disease -- Refsum disease -- Renal agenesis -- Renal failure due to hypertension -- Renal-hepatic ciliopathy -- Renpenning syndrome -- Retinitis pigmentosa -- Retinoblastoma -- Rett syndrome -- Rheumatoid arthritis -- Rhizomelic chondrodysplasia punctata -- Rhodopsin -- Rieger syndrome -- RNA (ribonucleic acid) -- Roberts SC phocomelia -- Robinow syndrome -- Rothmund-Thomson syndrome -- Rubinstein-Taybi syndrome -- Russell-Silver syndrome -- Saethre-Chotzen syndrome -- Schinzel-Giedion syndrome -- Schizophrenia -- Schwartz-Jampel syndrome -- Scleroderma -- Sclerosing bone dysplasias -- Scoliosis -- Seckel syndrome -- Selfish gene theory -- Septo-optic dysplasia -- Severe combined immunodeficiency -- Short-rib thoracic dysplasia with or without polydactyly -- Shprintzen-Goldberg craniosynostosis syndrome -- Sialidosis -- Sickle cell disease -- Simpson-Golabi-Behmel syndrome -- Single genome sequencing -- Sirenomelia -- Sjogren-Larsson syndrome -- Skeletal dysplasia -- Smith-Fineman-Myers syndrome -- Smith-Lemli-Opitz syndrome -- Smith-Magenis syndrome -- Sotos syndrome -- SPARCA1 spectrin-associated autosomal recessive cerebellar ataxia type1 -- Spastic cerebral palsy -- Spina bifida -- Spinal and bulbar muscular atrophy -- Spinal muscular atrophy -- Spinocerebellar ataxia -- Spinocerebellar ataxia 3 -- Spondyloepiphyseal dysplasia -- Spondyloepiphyseal dysplasia congenita -- SRY (sex-determining region Y) -- Stargardt disease -- Steroid-resistant nephrotic syndrome type 2/Gallowaymowat syndrome -- Stickler syndrome -- Sturge-Weber syndrome -- Super enhancers (SE) -- SWI/SNF-related autism syndrome -- Tangier disease -- Tar syndrome -- Tay-Sachs disease -- Teratogen -- Thalidomide embryopathy -- Thanatophoric dysplasia -- Thoracic aortic aneurysms -- Thyroid hormone resistance syndrome -- Tourette syndrome -- Treacher Collins syndrome -- Trichorhinophalangeal syndrome -- Triose phosphate isomerase deficiency -- Triple X syndrome -- Triploidy -- Trismus-pseudocamptodactyly syndrome -- Trisomy 8 mosaicism syndrome -- Trisomy 13 -- Tuberous sclerosis complex -- Turner syndrome -- Twin reversed arterial perfusion (TRAP) sequence -- Urea cycle disorders -- Urogenital adysplasia syndrome -- Usher syndrome -- Van der Woude syndrome -- Vater association -- Von Hippel-Lindau syndrome -- Von Willebrand disease -- Waardenburg syndrome -- Walker-Warburg syndrome -- Weaver syndrome -- Weissenbacher-Zweymuller syndrome -- Werner syndrome -- Williams syndrome -- Wilson disease -- Wiskott-Aldrich syndrome -- Wolf-Hirschhorn syndrome -- Wolman disease -- X-linked intellectual disability -- X-linked severe combined immunodeficiency -- X-linked sideroblastic anemia -- Xeroderma pigmentosum -- Xmen -- XXXX syndrome -- XXXXX syndrome -- XYY syndrome -- YY syndrome -- Zellweger spectrum -- Zimmermann-Laband syndrome -- Zinner syndrome -- Zygote. |
| 520 ## - Summary |
|---|
| Summary |
Provides clear, complete information on genetic disorders, including conditions, tests, procedures, treatments and therapies, in articles that are both comprehensive and easy to understand in language accessible to laypersons. |
| 650 #0 - SUBJECT HEADINGS |
|---|
| Subject term |
Diseases |
| Form subdivision |
Encyclopedias. |
| 650 #0 - SUBJECT HEADINGS |
|---|
| Subject term |
Genetic disorders |
| Form subdivision |
Encyclopedias. |
| 650 #0 - SUBJECT HEADINGS |
|---|
| Subject term |
Medical genetics |
| Form subdivision |
Encyclopedias. |
| 700 1# - ADDED PERSONAL NAME |
|---|
| Added personal author |
Moy, Tracie, |
| Dates associated with a name |
1977- |
| Relator term |
editor. |
| 700 1# - ADDED PERSONAL NAME |
|---|
| Added personal author |
Avery, Laura, |
| Dates associated with a name |
1972- |
| Relator term |
editor. |
| 710 2# - ADDED CORPORATE NAME |
|---|
| Added corporate author |
Gale Group. |
| 776 08 - ADDITIONAL PHYSICAL FORM ENTRY |
|---|
| Relationship information |
Print version: |
| Title |
Gale encyclopedia of genetic disorders. |
| Place, publisher, and date of publication |
Farmington Hills, Mich : Gale, Cengage Learning, [2016] |
| International Standard Book Number |
9781410332813 |
| 856 40 - ONLINE RESOURCE |
|---|
| Uniform Resource Identifier |
<a href="http://link.galegroup.com/apps/pub/8TYQ/GVRL?sid=gale_marc&u=bilk_itc">http://link.galegroup.com/apps/pub/8TYQ/GVRL?sid=gale_marc&u=bilk_itc</a> |
| Public note |
Click here to access |
| 336 ## - CONTENT TYPE |
|---|
| Content type code |
txt |
| 337 ## - MEDIA TYPE |
|---|
| Media type code |
c |
| 338 ## - CARRIER TYPE |
|---|
| Carrier type code |
cr |
| 588 ## - SOURCE OF DESCRIPTION NOTE |
|---|
| Source of description note |
Description based on print version record. |
| 776 08 - ADDITIONAL PHYSICAL FORM ENTRY |
|---|
| Record control number |
(DLC) 2015026923 |
