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Disease	Synonyms	Description
chondrodysplasia Blomstrand type	Blomstrand lethal chondrodysplasia	n_a
chromosomal deletion syndrome		n_a
chromosome 10q23 deletion syndrome		A chromosomal deletion syndrome that is characteri..[+] A chromosomal deletion syndrome that is characterized by dysmorphic facies, developmental delay and multiple congenital abnormalities and huvenile polyposis, has_material_basis_in recurrent deletions of chromosome 10q22.3-q23.2. [-]
chromosome 13q14 deletion syndrome	deletion 13q14	n_a
chromosome 14q11-q22 deletion syndrome	14q11.2 microdeletion syndrome	n_a
chromosome 15q11.2 deletion syndrome	15q11.2 microdeletion syndrome	n_a
chromosome 15q13.3 microdeletion syndrome	15q13.3 microdeletion syndrome	A chromosomal deletion syndrome that is characteri..[+] A chromosomal deletion syndrome that is characterized by intellectual dsability, developmental delay, autism spectrum disorder and seizure, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15. [-]
chromosome 15q24 deletion syndrome	15q24 microdeletion syndrome	n_a
chromosome 15q25 deletion syndrome		n_a
chromosome 15q26-qter deletion syndrome	15q26 deletion syndrome; distal 15q deletion syndr.. [+] 15q26 deletion syndrome; distal 15q deletion syndrome; distal monosomy 15q; Drayer syndrome; telomeric 15q deletion syndrome [-]	n_a
chromosome 16p11.2 deletion syndrome, 220kb	distal 16p11.2 microdeletion syndrome	n_a
chromosome 16p12.1 deletion syndrome, 520kb		n_a
chromosome 16p12.2-p11.2 deletion syndrome	16p11.2-p12.2 microdeletion syndrome; 16p11.2p12.2.. [+] 16p11.2-p12.2 microdeletion syndrome; 16p11.2p12.2 microdeletion syndrome [-]	n_a
chromosome 16q22 deletion syndrome		n_a
chromosome 17p13.1 deletion syndrome		n_a
chromosome 17q11.2 deletion syndrome, 1.4Mb	17q11 microdeletion syndrome; neurofibromatosis ty.. [+] 17q11 microdeletion syndrome; neurofibromatosis type 1 microdeletion syndrome; NF1 microdeletion syndrome; Van Asperen syndrome [-]	n_a
chromosome 17q12 deletion syndrome	17q12 microdeletion syndrome	n_a
chromosome 17q23.1-q23.2 deletion syndrome	17q23.1-q23.2 microdeletion syndrome; 17q23.1q23.2.. [+] 17q23.1-q23.2 microdeletion syndrome; 17q23.1q23.2 microdeletion syndrome [-]	A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q23.1-q23.2 deletion and that is characterized by characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities. [-]
chromosome 18p deletion syndrome	18p- syndrome; De Grouchy syndrome; monosomy 18p	n_a
chromosome 18q deletion syndrome	18q- syndrome; deletion 18q; monosomy 18q	A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in a terminal deficiency or macrodeletion that is characterized by mental retardation and congenital malformations. [-]
chromosome 19q13.11 deletion syndrome	19q13.11 microdeletion syndrome; monosomy 19q13.11.. [+] 19q13.11 microdeletion syndrome; monosomy 19q13.11 [-]	n_a
chromosome 1p32-p31 deletion syndrome	1p31p32 microdeletion syndrome	n_a
chromosome 1p36 deletion syndrome	1p36 deletion syndrome; deletion 1p36; monosomy 1p.. [+] 1p36 deletion syndrome; deletion 1p36; monosomy 1p36; subtelomeric 1p36 deletion [-]	n_a
chromosome 1q21.1 deletion syndrome	1q21.1 microdeletion syndrome; monosomy 1q21.1	n_a
chromosome 1q41-q42 deletion syndrome	1q41-q42 microdeletion syndrome; 1q41q42 microdele.. [+] 1q41-q42 microdeletion syndrome; 1q41q42 microdeletion syndrome [-]	A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 1q41-q42 region. [-]
chromosome 22q11.2 deletion syndrome, distal	distal 22q11.2 microdeletion syndrome	n_a
chromosome 2p12-p11.2 deletion syndrome		n_a
chromosome 2p16.1-p15 deletion syndrome	2p15-p16.1 microdeletion syndrome; 2p15p16.1 micro.. [+] 2p15-p16.1 microdeletion syndrome; 2p15p16.1 microdeletion syndrome [-]	n_a
chromosome 2q31.2 deletion syndrome		A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2q31.2 region. [-]
chromosome 3q13.31 deletion syndrome	3q13 microdeletion syndrome; monosomy 3q13	n_a
chromosome 3q29 microdeletion syndrome	3q subtelomere deletion syndrome; 3q29 microdeleti.. [+] 3q subtelomere deletion syndrome; 3q29 microdeletion syndrome; 3qter deletion; 3q29 recurrent deletion [-]	A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q29 region. [-]
chromosome 4q21 deletion syndrome	4q21 microdeletion syndrome; monosomy 4q21	n_a
chromosome 5q12 deletion syndrome		n_a
chromosome 6pter-p24 deletion syndrome	6p subtelomeric deletion syndrome; 6p25 microdelet.. [+] 6p subtelomeric deletion syndrome; 6p25 microdeletion syndrome; distal monosomy 6p [-]	n_a
chromosome 6q11-q14 deletion syndrome		n_a
chromosome 6q24-q25 deletion syndrome	6q25 microdeletion syndrome; monosomy 6q25	n_a
chromosome 8q21.11 deletion syndrome	8q21.11 microdeletion syndrome	A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 8q21.11 region and that is characterized by intellectual disability and common facial dysmorphic features. [-]
chromosome 19p13.13 deletion syndrome		n_a
chromosome Xp21 deletion syndrome	complex glycerol kinase deficiency; monosomy Xp21; .. [+] complex glycerol kinase deficiency; monosomy Xp21; Xp21 microdeletion syndrome [-]	A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome Xp21 region. [-]
chromosome 2q32-q33 deletion syndrome	2q32-q33 microdeletion syndrome; 2q32q33 microdele.. [+] 2q32-q33 microdeletion syndrome; 2q32q33 microdeletion syndrome; Glass syndrome; monosomy 2q32; monosomy 2q32-q33; monosomy 2q32q33 [-]	n_a
chromosomal duplication syndrome		n_a
chromosome 16p11.2 duplication syndrome	proximal 16p11.2 microduplication syndrome; proxim.. [+] proximal 16p11.2 microduplication syndrome; proximal dup(16)(p11.2); proximal trisomy 16p11.2 [-]	n_a
chromosome 16p13.3 duplication syndrome	16p13.3 microduplication syndrome; distal duplicat.. [+] 16p13.3 microduplication syndrome; distal duplication 16p; distal trisomy 16p; telomeric duplication 16p [-]	n_a
chromosome 17p13.3 duplication syndrome	chromosome 17p13.3 centromeric duplication syndrom.. [+] chromosome 17p13.3 centromeric duplication syndrome; 17p13.3 duplication syndrome; 17p13.3 microduplication syndrome; trisomy 17p13.3 [-]	A chromosomal duplication syndrome that has_materi..[+] A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17p13.3 region. [-]
chromosome 17q12 duplication syndrome	17q12 microduplication syndrome; trisomy 17q12	n_a
chromosome 17q21.31 duplication syndrome	17q21.31 microduplication syndrome; trisomy 17q21... [+] 17q21.31 microduplication syndrome; trisomy 17q21.31 [-]	n_a
chromosome 1q21.1 duplication syndrome	1q21.1 microduplication syndrome; trisomy 1q21.1	n_a
chromosome 22q11.2 microduplication syndrome	22q11.2 microduplication syndrome; duplication 22q.. [+] 22q11.2 microduplication syndrome; duplication 22q11.2; trisomy 22q11.2 [-]	A chromosomal duplication syndrome that has_materi..[+] A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 22q11.2 region. [-]
chromosome 22q13 duplication syndrome		A chromosomal duplication syndrome that has_materi..[+] A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 22q13 region. [-]
Cole-Carpenter syndrome		An osteogenesis imperfecta characterized by cranio..[+] An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance. [-]

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