DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormalities [C16.131] Congenital Abnormalities Abnormalities, Multiple [C16.131.077] Abnormalities, Multiple 22q11 Deletion Syndrome [C16.131.077.019] 22q11 Deletion Syndrome Alagille Syndrome [C16.131.077.065] Alagille Syndrome Angelman Syndrome [C16.131.077.095] Angelman Syndrome Barth Syndrome [C16.131.077.121] Barth Syndrome Basal Cell Nevus Syndrome [C16.131.077.130] Basal Cell Nevus Syndrome Beckwith-Wiedemann Syndrome [C16.131.077.133] Beckwith-Wiedemann Syndrome Bloom Syndrome [C16.131.077.137] Bloom Syndrome Branchio-Oto-Renal Syndrome [C16.131.077.208] Branchio-Oto-Renal Syndrome Carney Complex [C16.131.077.229] Carney Complex Ciliopathies [C16.131.077.245] Ciliopathies Cockayne Syndrome [C16.131.077.250] Cockayne Syndrome Costello Syndrome [C16.131.077.256] Costello Syndrome Cri-du-Chat Syndrome [C16.131.077.262] Cri-du-Chat Syndrome De Lange Syndrome [C16.131.077.272] De Lange Syndrome Deaf-Blind Disorders [C16.131.077.299] Deaf-Blind Disorders Donohue Syndrome [C16.131.077.313] Donohue Syndrome Down Syndrome [C16.131.077.327] Down Syndrome Ectodermal Dysplasia [C16.131.077.350] Ectodermal Dysplasia Fraser Syndrome [C16.131.077.371] Fraser Syndrome Gardner Syndrome [C16.131.077.393] Gardner Syndrome Heterotaxy Syndrome [C16.131.077.401] Heterotaxy Syndrome Holoprosencephaly [C16.131.077.410] Holoprosencephaly Incontinentia Pigmenti [C16.131.077.445] Incontinentia Pigmenti Isolated Noncompaction of the Ventricular Myocardium [C16.131.077.477] Isolated Noncompaction of the Ventricular Myocardium Laurence-Moon Syndrome [C16.131.077.509] Laurence-Moon Syndrome LEOPARD Syndrome [C16.131.077.525] LEOPARD Syndrome Loeys-Dietz Syndrome [C16.131.077.537] Loeys-Dietz Syndrome Marfan Syndrome [C16.131.077.550] Marfan Syndrome Mobius Syndrome [C16.131.077.578] Mobius Syndrome Monilethrix [C16.131.077.592] Monilethrix Nail-Patella Syndrome [C16.131.077.606] Nail-Patella Syndrome Netherton Syndrome [C16.131.077.619] Netherton Syndrome Nevus, Sebaceous of Jadassohn [C16.131.077.633] Nevus, Sebaceous of Jadassohn Oculocerebrorenal Syndrome [C16.131.077.662] Oculocerebrorenal Syndrome Orofaciodigital Syndromes [C16.131.077.676] Orofaciodigital Syndromes Pallister-Hall Syndrome [C16.131.077.690] Pallister-Hall Syndrome Pentalogy of Cantrell [C16.131.077.696] Pentalogy of Cantrell POEMS Syndrome [C16.131.077.703] POEMS Syndrome Polycystic Kidney Diseases [C16.131.077.717] Polycystic Kidney Diseases Prader-Willi Syndrome [C16.131.077.730] Prader-Willi Syndrome Prolidase Deficiency [C16.131.077.735] Prolidase Deficiency Proteus Syndrome [C16.131.077.740] Proteus Syndrome Prune Belly Syndrome [C16.131.077.745] Prune Belly Syndrome Rubella Syndrome, Congenital [C16.131.077.790] Rubella Syndrome, Congenital Rubinstein-Taybi Syndrome [C16.131.077.804] Rubinstein-Taybi Syndrome Short Rib-Polydactyly Syndrome [C16.131.077.850] Short Rib-Polydactyly Syndrome Silver-Russell Syndrome [C16.131.077.855] Silver-Russell Syndrome Smith-Lemli-Opitz Syndrome [C16.131.077.860] Smith-Lemli-Opitz Syndrome Smith-Magenis Syndrome [C16.131.077.879] Smith-Magenis Syndrome Sotos Syndrome [C16.131.077.889] Sotos Syndrome Trichothiodystrophy Syndromes [C16.131.077.899] Trichothiodystrophy Syndromes Trisomy 13 Syndrome [C16.131.077.919] Trisomy 13 Syndrome Trisomy 18 Syndrome [C16.131.077.929] Trisomy 18 Syndrome Waardenburg Syndrome [C16.131.077.938] Waardenburg Syndrome Weill-Marchesani Syndrome [C16.131.077.941] Weill-Marchesani Syndrome Wolf-Hirschhorn Syndrome [C16.131.077.944] Wolf-Hirschhorn Syndrome Zellweger Syndrome [C16.131.077.970] Zellweger Syndrome DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn [C16.320] Genetic Diseases, Inborn Primary Immunodeficiency Diseases [C16.320.798] Primary Immunodeficiency Diseases Ataxia Telangiectasia [C16.320.798.250] Ataxia Telangiectasia Bloom Syndrome [C16.320.798.313] Bloom Syndrome Chediak-Higashi Syndrome [C16.320.798.375] Chediak-Higashi Syndrome Hereditary Complement Deficiency Diseases [C16.320.798.500] Hereditary Complement Deficiency Diseases Hyper-IgM Immunodeficiency Syndrome [C16.320.798.625] Hyper-IgM Immunodeficiency Syndrome Job Syndrome [C16.320.798.688] Job Syndrome Leukocyte-Adhesion Deficiency Syndrome [C16.320.798.719] Leukocyte-Adhesion Deficiency Syndrome Severe Combined Immunodeficiency [C16.320.798.750] Severe Combined Immunodeficiency Wiskott-Aldrich Syndrome [C16.320.798.875] Wiskott-Aldrich Syndrome DISEASES Nutritional and Metabolic Diseases [C18] Nutritional and Metabolic Diseases Metabolic Diseases [C18.452] Metabolic Diseases DNA Repair-Deficiency Disorders [C18.452.284] DNA Repair-Deficiency Disorders Ataxia Telangiectasia [C18.452.284.060] Ataxia Telangiectasia Bloom Syndrome [C18.452.284.100] Bloom Syndrome Cockayne Syndrome [C18.452.284.250] Cockayne Syndrome Colorectal Neoplasms, Hereditary Nonpolyposis [C18.452.284.255] Colorectal Neoplasms, Hereditary Nonpolyposis Fanconi Anemia [C18.452.284.280] Fanconi Anemia Li-Fraumeni Syndrome [C18.452.284.520] Li-Fraumeni Syndrome Nijmegen Breakage Syndrome [C18.452.284.600] Nijmegen Breakage Syndrome Rothmund-Thomson Syndrome [C18.452.284.760] Rothmund-Thomson Syndrome Severe Combined Immunodeficiency [C18.452.284.800] Severe Combined Immunodeficiency Werner Syndrome [C18.452.284.960] Werner Syndrome Xeroderma Pigmentosum [C18.452.284.975] Xeroderma Pigmentosum DISEASES Immune System Diseases [C20] Immune System Diseases Immunologic Deficiency Syndromes [C20.673] Immunologic Deficiency Syndromes Primary Immunodeficiency Diseases [C20.673.795] Primary Immunodeficiency Diseases Ataxia Telangiectasia [C20.673.795.250] Ataxia Telangiectasia Bloom Syndrome [C20.673.795.313] Bloom Syndrome Chediak-Higashi Syndrome [C20.673.795.375] Chediak-Higashi Syndrome Hereditary Complement Deficiency Diseases [C20.673.795.500] Hereditary Complement Deficiency Diseases Hyper-IgM Immunodeficiency Syndrome [C20.673.795.625] Hyper-IgM Immunodeficiency Syndrome Job Syndrome [C20.673.795.688] Job Syndrome Leukocyte-Adhesion Deficiency Syndrome [C20.673.795.719] Leukocyte-Adhesion Deficiency Syndrome Severe Combined Immunodeficiency [C20.673.795.750] Severe Combined Immunodeficiency Wiskott-Aldrich Syndrome [C20.673.795.875] Wiskott-Aldrich Syndrome

Bloom Syndrome - Conceito preferido

Identificador do conceito	M0002734
Nota de escopo	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.
Termo preferido	Bloom Syndrome
Termo(s) alternativo(s)	Bloom Torre Machacek Syndrome Bloom's Syndrome Bloom's Syndromes Bloom-Torre-Machacek Syndrome Congenital Telangiectatic Erythema Congenital Telangiectatic Erythemas Erythema, Congenital Telangiectatic Telangiectatic Erythema, Congenital