Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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chondrodysplasia Blomstrand type |
Blomstrand lethal chondrodysplasia
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chromosomal deletion syndrome |
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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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chromosome 14q11-q22 deletion syndrome |
14q11.2 microdeletion syndrome
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chromosome 15q11.2 deletion syndrome |
15q11.2 microdeletion syndrome
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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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chromosome 15q25 deletion syndrome |
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chromosome 15q26-qter deletion syndrome |
15q26 deletion syndrome; distal 15q deletion syndr..
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chromosome 16p11.2 deletion syndrome, 220kb |
distal 16p11.2 microdeletion syndrome
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chromosome 16p12.1 deletion syndrome, 520kb |
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chromosome 16p12.2-p11.2 deletion syndrome |
16p11.2-p12.2 microdeletion syndrome; 16p11.2p12.2..
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chromosome 16q22 deletion syndrome |
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chromosome 17p13.1 deletion syndrome |
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chromosome 17q11.2 deletion syndrome, 1.4Mb |
17q11 microdeletion syndrome; neurofibromatosis ty..
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chromosome 17q12 deletion syndrome |
17q12 microdeletion syndrome
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chromosome 17q23.1-q23.2 deletion syndrome |
17q23.1-q23.2 microdeletion syndrome; 17q23.1q23.2..
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A chromosomal deletion syndrome that has_material_..[+]
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chromosome 18p deletion syndrome |
18p- syndrome; De Grouchy syndrome; monosomy 18p
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chromosome 18q deletion syndrome |
18q- syndrome; deletion 18q; monosomy 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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chromosome 1p32-p31 deletion syndrome |
1p31p32 microdeletion syndrome
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chromosome 1p36 deletion syndrome |
1p36 deletion syndrome; deletion 1p36; monosomy 1p..
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chromosome 1q21.1 deletion syndrome |
1q21.1 microdeletion syndrome; monosomy 1q21.1
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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
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chromosome 2p12-p11.2 deletion syndrome |
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chromosome 2p16.1-p15 deletion syndrome |
2p15-p16.1 microdeletion syndrome; 2p15p16.1 micro..
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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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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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chromosome 5q12 deletion syndrome |
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chromosome 6pter-p24 deletion syndrome |
6p subtelomeric deletion syndrome; 6p25 microdelet..
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chromosome 6q11-q14 deletion syndrome |
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chromosome 6q24-q25 deletion syndrome |
6q25 microdeletion syndrome; monosomy 6q25
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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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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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chromosome 2q32-q33 deletion syndrome |
2q32-q33 microdeletion syndrome; 2q32q33 microdele..
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chromosomal duplication syndrome |
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chromosome 16p11.2 duplication syndrome |
proximal 16p11.2 microduplication syndrome; proxim..
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chromosome 16p13.3 duplication syndrome |
16p13.3 microduplication syndrome; distal duplicat..
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chromosome 17p13.3 duplication syndrome |
chromosome 17p13.3 centromeric duplication syndrom..
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A chromosomal duplication syndrome that has_materi..[+]
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chromosome 17q12 duplication syndrome |
17q12 microduplication syndrome; trisomy 17q12
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chromosome 17q21.31 duplication syndrome |
17q21.31 microduplication syndrome; trisomy 17q21...
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chromosome 1q21.1 duplication syndrome |
1q21.1 microduplication syndrome; trisomy 1q21.1
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chromosome 22q11.2 microduplication syndrome |
22q11.2 microduplication syndrome; duplication 22q..
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A chromosomal duplication syndrome that has_materi..[+]
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chromosome 22q13 duplication syndrome |
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A chromosomal duplication syndrome that has_materi..[+]
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Cole-Carpenter syndrome |
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An osteogenesis imperfecta characterized by cranio..[+]
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