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familial esophageal achalasia

MIM.200400

Keywords

Agents

• Autoantibodies (1)
• Bacterias (18)
• Chemical agents (7)
• clinicobiological syndrome (1)
• Diagnostic antibodies (1)
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• Fungi (9)
• Group of drugs (1)
• Helminths (3)
• Hypomethylated in tumors (1)
• Infectious agents (119)
• Infectious process (1)
• Insects (1)
• Lymphoma-associated translocations (1)
• Nematodes (1)
• Parasites (17)
• Physical agents (3)
• Protozoans (1)
• Toxins (4)
• Vectors (3)
• Virus (26)

Books

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• Books 1999 (2)
• Books 2001 (6)
• Books 2002 (1)
• Books 2003 (2)
• Books 2004 (5)
• Books 2005 (25)

Clinical

• Biological sign (2)
• Biological syndromes (7)
• Clinical signs (4)
• Clinical syndromes (49)
• Clinicobiological syndrome (2)
• Functional signs (2)
• Medical procedure (5)
• Radiologic anomalies (2)
• Surgical procedures (4)
• Therapeutics (15)

Cytogenetics

• Amplifications (4)
• Cancer loci (1)
• Carcinoma-associated translocations (2)
• Chromosomal anomalies (22)
• Chromosomal lesions (2)
• Fragile sites (2)
• Leukemia-associated translocations (3)
• Sarcoma-associated translocations (1)
• Tumoral chromosomal anomalies (9)

Disease

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• Disease group (localization) (33)
• Disease group (mechanisms) (20)
• Disease group (molecular) (28)
• Disease group (semiology) (11)
• Disease localization (125)
• Disease subtype (24)
• Diseases (911)
• Group of diseases (189)

Diseases (Etiology)

• Chromosomal diseases (9)
• Drug-induced diseases (1)
• Dysimmune diseases (20)
• Environnemental diseases (1)
• Etiology unknown (3)
• Infectious diseases (87)
• Monogenic diseases (309)
• Multifactorial diseases (2)
• Senescence (3)
• Tumoral diseases (2)
• Unknown etiology (3)

General

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• Field (38)
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• Macroscopy (3)
• Medical education (11)
• Medical publishers (4)
• Pediatric pathology (4)
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• Society (1)
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• Technique (124)
• Terminology (1)
• Therapeutics (2)
• Website (10)

Malformations

• Deformations (41)
• Disruptions (2)
• Dysmorphology (54)
• Fetal anomalies (15)
• Malformation localization (1)
• Malformation subtype (5)
• Malformations (299)
• Malformative associations (19)
• Malformative disease (1)
• Malformative groups (79)
• Malformative lesions (19)
• Malformative sequences (6)
• Malformatives syndromes (38)
• Tissular malformations (35)
• Vascular malformations (2)
• Visceral malformations (30)

Molecular

• amino acids (5)
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• Genes (6)
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• miRNAs (3)
• Molecular anatomy (1)
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• Molecular groups (94)
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• Molecular medicine (38)
• Molecular processes (35)
• Molecular structure (5)
• Molecules (98)
• Nucleic acids (35)
• Signaling pathways (30)

Morphological anomalies

• Cellular anomalies (7)
• Cellular lesions (33)
• Lesional group (106)
• Lesional syndromes (403)
• Macroscopical anomalies (46)
• Macroscopical lesions (293)
• Macroscopical syndromes (15)
• Microscopical lesions (223)
• Pathogenesis (1)
• Pathological cells (8)
• Pathological processes (46)
• Procedures (1)
• Tissular anomalies (9)
• Tissular lesions (122)
• Ultrastructural lesions (5)

Pathological groups

• etiological (1)
• functional (1)
• local (1)
• molecular (1)

Physiological

• Anatomical component (74)
• Cell subtypes (24)
• Cells (80)
• Cellular components (100)
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• Chromosomes (3)
• Developmental processes (81)
• Developmental structures (32)
• Fetal organs (48)
• Individuals (2)
• Organ components (98)
• Organ functions (7)
• Organs (48)
• Regions (12)
• System component (3)
• Systemic functions (15)
• Systemic processes (1)
• Systems (13)
• Tissues (9)
• Tissular components (111)
• Tissular functions (23)
• Tissular processes (3)

Physiopathological pathways

• Auto-immunity (8)
• Biotoxic pathway (1)
• Connective tissue anomaly (1)
• Dysfunctional pathway (15)
• Dysimmunity (20)
• Immunodeficiency (15)
• Inflammatory pathway (6)
• Malformative pathway (66)
• Metabolic pathway (61)
• Tumoral pathway (11)
• Tumoral predisposition (3)
• Vascular pathway (8)

Proteins

• Activated in tumors (5)
• Amplified in tumors (16)
• Autoimmunity targets (8)
• Biomarkers (1)
• Cancer genes (93)
• CDs (8)
• Functional proteic groups (45)
• Fusion proteins (41)
• Human evolution (2)
• IHC markers (5)
• Inactivated in tumors (11)
• Involved in translocations (128)
• Malformation gene (31)
• Mutated in human diseases (532)
• Mutated in tumors (16)
• Overexpressed in tumors (27)
• Proteic complexes (61)
• Proteic domains (2)
• Protein families (283)
• Protein groups (57)
• Protein subfamily (3)
• Protein superfamilies (63)
• Proteins (1357)
• Putative cancer genes (3)
• Tumor suppressor protein (44)
• Underexpressed in tumors (4)
• Variants in disease predisposition (42)

Tumors

• Architectural pattern (14)
• Benign tumors (4)
• Carcinomas (10)
• Cytological pattern (4)
• Leukemias (11)
• Lymphomas (1)
• Malignant tumors (10)
• Multigenic tumorigenesis (2)
• Orphan tumors (14)
• Pediatric tumors (17)
• Sarcomas (3)
• Translocation-associated tumors (7)
• Tumoral cells (5)
• Tumoral groups (254)
• Tumoral localizations (167)
• Tumoral subtypes (98)
• Tumors (490)

Videos

• Biology videos (142)
• Endoscopy videos (21)
• Histology videos (111)
• Histopathology videos (123)
• Laparoscopy videos (1)
• Physiopathology videos (3)
• Tumoral predisposition (7)

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