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Bloom Syndrome
An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase.
推出的年份: 1982
副标题
blood
cerebrospinal fluid
chemically induced
classification
complications
diagnosis
diagnostic imaging
diet therapy
drug therapy
economics
embryology
enzymology
epidemiology
ethnology
etiology
genetics
history
immunology
metabolism
microbiology
mortality
nursing
parasitology
pathology
physiopathology
prevention and control
psychology
radiotherapy
rehabilitation
surgery
therapy
urine
veterinary
virology
树号:
C16.131.077.137, C16.320.798.313, C18.452.284.100, C20.673.795.313
MeSH 单一 ID:
D001816
进入的组:
Bloom's Syndrome
Bloom's Syndromes
Congenital Telangiectatic Erythema
Congenital Telangiectatic Erythemas
Erythema, Congenital Telangiectatic
Telangiectatic Erythema, Congenital
Bloom-Torre-Machacek Syndrome
Bloom Torre Machacek Syndrome
早前的内容:
Abnormalities, Multiple (1968-1981)
Dwarfism (1966-1981)
Facial Dermatoses (1966-1981)
Telangiectasis (1966-1981)
All MeSH Categories
Diseases Category
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Congenital Abnormalities [C16.131]
Abnormalities, Multiple [C16.131.077]
22q11 Deletion Syndrome [C16.131.077.019]
add_circle
Alagille Syndrome [C16.131.077.065]
Angelman Syndrome [C16.131.077.095]
Barth Syndrome [C16.131.077.121]
Basal Cell Nevus Syndrome [C16.131.077.130]
Beckwith-Wiedemann Syndrome [C16.131.077.133]
Bloom Syndrome [C16.131.077.137]
Branchio-Oto-Renal Syndrome [C16.131.077.208]
Carney Complex [C16.131.077.229]
CHARGE Syndrome [C16.131.077.239]
Ciliopathies [C16.131.077.245]
add_circle
Cockayne Syndrome [C16.131.077.250]
Costello Syndrome [C16.131.077.256]
Cri-du-Chat Syndrome [C16.131.077.262]
De Lange Syndrome [C16.131.077.272]
Deaf-Blind Disorders [C16.131.077.299]
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Donohue Syndrome [C16.131.077.313]
Down Syndrome [C16.131.077.327]
Ectodermal Dysplasia [C16.131.077.350]
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Fraser Syndrome [C16.131.077.371]
Gardner Syndrome [C16.131.077.393]
Heterotaxy Syndrome [C16.131.077.401]
Holoprosencephaly [C16.131.077.410]
Incontinentia Pigmenti [C16.131.077.445]
Isolated Noncompaction of the Ventricular Myocardium [C16.131.077.477]
Laurence-Moon Syndrome [C16.131.077.509]
LEOPARD Syndrome [C16.131.077.525]
Loeys-Dietz Syndrome [C16.131.077.537]
Marfan Syndrome [C16.131.077.550]
Mobius Syndrome [C16.131.077.578]
Monilethrix [C16.131.077.592]
Nail-Patella Syndrome [C16.131.077.606]
Netherton Syndrome [C16.131.077.619]
Nevus, Sebaceous of Jadassohn [C16.131.077.633]
Oculocerebrorenal Syndrome [C16.131.077.662]
Orofaciodigital Syndromes [C16.131.077.676]
Pallister-Hall Syndrome [C16.131.077.690]
Pentalogy of Cantrell [C16.131.077.696]
POEMS Syndrome [C16.131.077.703]
Polycystic Kidney Diseases [C16.131.077.717]
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Prader-Willi Syndrome [C16.131.077.730]
Prolidase Deficiency [C16.131.077.735]
Proteus Syndrome [C16.131.077.740]
Prune Belly Syndrome [C16.131.077.745]
Rubella Syndrome, Congenital [C16.131.077.790]
Rubinstein-Taybi Syndrome [C16.131.077.804]
Short Rib-Polydactyly Syndrome [C16.131.077.850]
Silver-Russell Syndrome [C16.131.077.855]
Smith-Lemli-Opitz Syndrome [C16.131.077.860]
Smith-Magenis Syndrome [C16.131.077.879]
Sotos Syndrome [C16.131.077.889]
Trichothiodystrophy Syndromes [C16.131.077.899]
Trisomy 13 Syndrome [C16.131.077.919]
Trisomy 18 Syndrome [C16.131.077.929]
Waardenburg Syndrome [C16.131.077.938]
Weill-Marchesani Syndrome [C16.131.077.941]
Wolf-Hirschhorn Syndrome [C16.131.077.944]
Zellweger Syndrome [C16.131.077.970]
All MeSH Categories
Diseases Category
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Genetic Diseases, Inborn [C16.320]
Primary Immunodeficiency Diseases [C16.320.798]
Ataxia Telangiectasia [C16.320.798.250]
Bloom Syndrome [C16.320.798.313]
Chediak-Higashi Syndrome [C16.320.798.375]
Hereditary Complement Deficiency Diseases [C16.320.798.500]
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Hyper-IgM Immunodeficiency Syndrome [C16.320.798.625]
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Job Syndrome [C16.320.798.688]
Leukocyte-Adhesion Deficiency Syndrome [C16.320.798.719]
Severe Combined Immunodeficiency [C16.320.798.750]
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Wiskott-Aldrich Syndrome [C16.320.798.875]
All MeSH Categories
Diseases Category
Nutritional and Metabolic Diseases [C18]
Metabolic Diseases [C18.452]
DNA Repair-Deficiency Disorders [C18.452.284]
Ataxia Telangiectasia [C18.452.284.060]
Bloom Syndrome [C18.452.284.100]
Cockayne Syndrome [C18.452.284.250]
Colorectal Neoplasms, Hereditary Nonpolyposis [C18.452.284.255]
Fanconi Anemia [C18.452.284.280]
Li-Fraumeni Syndrome [C18.452.284.520]
Nijmegen Breakage Syndrome [C18.452.284.600]
Rothmund-Thomson Syndrome [C18.452.284.760]
Severe Combined Immunodeficiency [C18.452.284.800]
Werner Syndrome [C18.452.284.960]
Xeroderma Pigmentosum [C18.452.284.975]
All MeSH Categories
Diseases Category
Immune System Diseases [C20]
Immunologic Deficiency Syndromes [C20.673]
Primary Immunodeficiency Diseases [C20.673.795]
Ataxia Telangiectasia [C20.673.795.250]
Bloom Syndrome [C20.673.795.313]
Chediak-Higashi Syndrome [C20.673.795.375]
Hereditary Complement Deficiency Diseases [C20.673.795.500]
add_circle
Hyper-IgM Immunodeficiency Syndrome [C20.673.795.625]
add_circle
Job Syndrome [C20.673.795.688]
Leukocyte-Adhesion Deficiency Syndrome [C20.673.795.719]
Severe Combined Immunodeficiency [C20.673.795.750]
add_circle
Wiskott-Aldrich Syndrome [C20.673.795.875]
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