Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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complement component 7 deficiency |
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A complement deficiency that is characterized by r..[+]
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complement component 9 deficiency |
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A complement deficiency that is characterized by r..[+]
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cardiac arrest |
circulatory arrest; cardiopulmonary arrest
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A congestive heart failure characterized by a sudd..[+]
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3 articles | |
cervical polyp |
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A cervix disease characterized by a benign polyp o..[+]
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CEDNIK syndrome |
cerebral dysgenesis, neuropathy, ichthyosis and ke..
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A syndrome that has_material_basis_in homozygous m..[+]
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chronic atrial and intestinal dysrhythmia |
CAID syndrome
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A syndrome characterized by a unique combination o..[+]
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ciliopathy |
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A genetic disease associated with mutations encodi..[+]
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46 articles | 74 matches |
chylomicron retention disease |
CMRD; Anderson disease
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A lipid metabolism disorder characterized by malnu..[+]
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Chilblain lupus |
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A cutaneous form of systemic lupus erythermatosus ..[+]
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chondrodysplasia Blomstrand type |
Blomstrand lethal chondrodysplasia
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An osteochondrodysplasia that is characterized by ..[+]
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chromosomal deletion syndrome |
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A chromosomal disease that has_material_basis_in p..[+]
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18 articles | 19 matches |
chromosome 10q23 deletion syndrome |
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A chromosomal deletion syndrome that is characteri..[+]
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chromosome 13q14 deletion syndrome |
deletion 13q14
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A chromosomal deletion syndrome that is characteri..[+]
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chromosome 14q11-q22 deletion syndrome |
14q11.2 microdeletion syndrome
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A chromosomal deletion syndrome that is characteri..[+]
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chromosome 15q11.2 deletion syndrome |
15q11.2 microdeletion syndrome
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A chromosomal deletion syndrome that is characteri..[+]
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chromosome 15q13.3 microdeletion syndrome |
15q13.3 microdeletion syndrome
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A chromosomal deletion syndrome that is characteri..[+]
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chromosome 15q24 deletion syndrome |
15q24 microdeletion syndrome
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A chromosomal deletion syndrome that is characteri..[+]
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chromosome 15q25 deletion syndrome |
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A chromosomal deletion syndrome that is characteri..[+]
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chromosome 15q26-qter deletion syndrome |
15q26 deletion syndrome; distal 15q deletion syndr..
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A chromosomal deletion syndrome that is characteri..[+]
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1 articles | |
chromosome 16p11.2 deletion syndrome, 220-kb |
distal 16p11.2 microdeletion syndrome
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A chromosomal deletion syndrome that is characteri..[+]
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chromosome 16p12.1 deletion syndrome |
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A chromosomal deletion syndrome that has_material_..[+]
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chromosome 16p12.2-p11.2 deletion syndrome |
16p11.2-p12.2 microdeletion syndrome; 16p11.2p12.2..
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A chromosomal deletion syndrome that has_material_..[+]
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chromosome 16q22 deletion syndrome |
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A chromosomal deletion syndrome that has_material_..[+]
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chromosome 17p13.1 deletion syndrome |
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A chromosomal deletion syndrome that has_material_..[+]
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chromosome 17q11.2 deletion syndrome |
17q11 microdeletion syndrome; Van Asperen syndrome..
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A chromosomal deletion syndrome that has_material_..[+]
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chromosome 17q12 deletion syndrome |
17q12 microdeletion syndrome
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A chromosomal deletion syndrome that has_material_..[+]
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chromosome 17q23.1-q23.2 deletion syndrome |
17q23.1q23.2 microdeletion syndrome; 17q23.1-q23.2..
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A chromosomal deletion syndrome that has_material_..[+]
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chromosome 18p deletion syndrome |
De Grouchy syndrome; 18p- syndrome; monosomy 18p
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A chromosomal deletion syndrome that has_material_..[+]
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chromosome 18q deletion syndrome |
18q- syndrome; monosomy 18q; deletion 18q
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A chromosomal deletion syndrome that has_material_..[+]
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chromosome 19q13.11 deletion syndrome |
19q13.11 microdeletion syndrome; monosomy 19q13.11..
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A chromosomal deletion syndrome that has_material_..[+]
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chromosome 1p36 deletion syndrome |
1p36 deletion syndrome; monosomy 1p36; deletion 1p..
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A chromosomal deletion syndrome that has_material_..[+]
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chromosome 1q21.1 deletion syndrome |
1q21.1 microdeletion syndrome; monosomy 1q21.1
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A chromosomal deletion syndrome that has_material_..[+]
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chromosome 1q41-q42 deletion syndrome |
1q41-q42 microdeletion syndrome; 1q41q42 microdele..
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A chromosomal deletion syndrome that has_material_..[+]
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chromosome 22q11.2 deletion syndrome, distal |
distal 22q11.2 microdeletion syndrome; 22q11.2 del..
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A chromosomal deletion syndrome that has_material_..[+]
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1 articles | |
chromosome 2p12-p11.2 deletion syndrome |
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A chromosomal deletion syndrome that has_material_..[+]
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chromosome 2p16.1-p15 deletion syndrome |
2p15-p16.1 microdeletion syndrome; 2p15p16.1 micro..
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A chromosomal deletion syndrome that has_material_..[+]
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chromosome 2q31.2 deletion syndrome |
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A chromosomal deletion syndrome that has_material_..[+]
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chromosome 3q13.31 deletion syndrome |
3q13 microdeletion syndrome; monosomy 3q13
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A chromosomal deletion syndrome that has_material_..[+]
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chromosome 3q29 microdeletion syndrome |
3q subtelomere deletion syndrome; 3q29 microdeleti..
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A chromosomal deletion syndrome that has_material_..[+]
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chromosome 4q21 deletion syndrome |
4q21 microdeletion syndrome; monosomy 4q21
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A chromosomal deletion syndrome that has_material_..[+]
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chromosome 5q12 deletion syndrome |
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A chromosomal deletion syndrome that has_material_..[+]
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chromosome 6pter-p24 deletion syndrome |
6p25 microdeletion syndrome; distal monosomy 6p; 6..
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A chromosomal deletion syndrome that has_material_..[+]
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chromosome 6q11-q14 deletion syndrome |
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A chromosomal deletion syndrome that has_material_..[+]
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chromosome 6q24-q25 deletion syndrome |
6q25 microdeletion syndrome; monosomy 6q25
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A chromosomal deletion syndrome that has_material_..[+]
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chromosome 8q21.11 deletion syndrome |
8q21.11 microdeletion syndrome
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A chromosomal deletion syndrome that has_material_..[+]
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chromosome 19p13.13 deletion syndrome |
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A chromosomal deletion syndrome that has_material_..[+]
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chromosome Xp21 deletion syndrome |
complex glycerol kinase deficiency; monosomy Xp21; ..
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A chromosomal deletion syndrome that has_material_..[+]
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chromosomal duplication syndrome |
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A chromosomal disease that has_material_basis_in e..[+]
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9 articles | |
chromosome 16p11.2 duplication syndrome |
proximal 16p11.2 microduplication syndrome; proxim..
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A chromosomal duplication syndrome that has_materi..[+]
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chromosome 16p13.3 duplication syndrome |
16p13.3 microduplication syndrome; distal duplicat..
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A chromosomal duplication syndrome that has_materi..[+]
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