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Case #10610 - Achondrogenesis type 2

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• Sarcoma-associated translocations (1)
• Tumoral chromosomal anomalies (9)

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Diseases (Etiology)

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• 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)
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• Malformative lesions (19)
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• Tissular malformations (35)
• Vascular malformations (2)
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Molecular

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• Nucleic acids (35)
• Signaling pathways (30)

Morphological anomalies

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• 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)
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• Cellular systems (4)
• Chromosomal regions (9)
• 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

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• 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

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• Leukemias (11)
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• Pediatric tumors (17)
• Sarcomas (3)
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• Tumoral cells (5)
• Tumoral groups (254)
• Tumoral localizations (167)
• Tumoral subtypes (98)
• Tumors (490)

Videos

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

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