disease
   |__genetic disease
       |__chromosomal disease  190 rec.
           |__chromosomal deletion syndrome 140 rec.
           |   |__3p deletion syndrome
           |   |__46,XY sex reversal 4
           |   |__46,XY sex reversal 10 1 rec.
           |   |__alpha thalassemia-intellectual disability syndrome type 1
           |   |__AMME complex
           |   |__Axenfeld-Rieger syndrome type 2
           |   |__chromosome 1p36 deletion syndrome
           |   |__chromosome 1q21.1 deletion syndrome 4 rec.
           |   |__chromosome 1q41-q42 deletion syndrome
           |   |__chromosome 2p12-p11.2 deletion syndrome
           |   |__chromosome 2p16.1-p15 deletion syndrome
           |   |__chromosome 2q31.2 deletion syndrome
           |   |__chromosome 2q37 deletion syndrome
           |   |__chromosome 3q13.31 deletion syndrome
           |   |__chromosome 3q29 microdeletion syndrome 13 rec.
           |   |__chromosome 4q21 deletion syndrome
           |   |__chromosome 5q deletion syndrome 2 rec.
           |   |__chromosome 5q12 deletion syndrome
           |   |__chromosome 6pter-p24 deletion syndrome
           |   |__chromosome 6q11-q14 deletion syndrome
           |   |__chromosome 6q24-q25 deletion syndrome
           |   |__chromosome 8q21.11 deletion syndrome
           |   |__chromosome 9p deletion syndrome
           |   |__chromosome 10q23 deletion syndrome
           |   |__chromosome 13q14 deletion syndrome
           |   |__chromosome 14q11-q22 deletion syndrome
           |   |__chromosome 15q11.2 deletion syndrome 12 rec.
           |   |__chromosome 15q13.3 microdeletion syndrome 2 rec.
           |   |__chromosome 15q24 deletion syndrome 1 rec.
           |   |__chromosome 15q25 deletion syndrome
           |   |__chromosome 15q26-qter deletion syndrome
           |   |__chromosome 16p11.2 deletion syndrome, 220-kb 2 rec.
           |   |__chromosome 16p11.2 deletion syndrome, 593-kb 47 rec.
           |   |__chromosome 16p12.1 deletion syndrome 6 rec.
           |   |__chromosome 16p12.2-p11.2 deletion syndrome
           |   |__chromosome 16q22 deletion syndrome
           |   |__chromosome 17p13.1 deletion syndrome
           |   |__chromosome 17q11.2 deletion syndrome
           |   |__chromosome 17q12 deletion syndrome 6 rec.
           |   |__chromosome 17q23.1-q23.2 deletion syndrome
           |   |__chromosome 18p deletion syndrome
           |   |__chromosome 18q deletion syndrome
           |   |__chromosome 19p13.13 deletion syndrome
           |   |__chromosome 19q13.11 deletion syndrome
           |   |__chromosome 22q11.2 deletion syndrome, distal
           |   |__chromosome Xp21 deletion syndrome
           |   |__Cri-Du-Chat syndrome
           |   |__DiGeorge syndrome 8 rec.
           |   |__distal 10q deletion syndrome
           |   |__hereditary nonpolyposis colorectal cancer type 8
           |   |__hypoparathyroidism-deafness-renal disease syndrome 2 rec.
           |   |__hypotonia-cystinuria syndrome
           |   |__Jacobsen Syndrome 3 rec.
           |   |__Kleefstra syndrome 1 4 rec.
           |   |__NFIA-related disorder 4 rec.
           |   |__Phelan-McDermid syndrome 1 rec.
           |   |__posterior amorphous corneal dystrophy
           |   |__Potocki-Shaffer syndrome
           |   |__Rubinstein-Taybi syndrome 4 rec.
           |   |__SATB2-associated syndrome 8 rec.
           |   |__Smith-Magenis syndrome 1 rec.
           |   |__thrombocytopenia-absent radius syndrome 1 rec.
           |   |__velocardiofacial syndrome 1 rec.
           |   |__WAGR syndrome
           |   |__Williams-Beuren syndrome 4 rec.
           |   |__Wolf-Hirschhorn syndrome 2 rec.
           |   |__Y-linked spermatogenic failure 1
           |__chromosomal duplication syndrome 50 rec.
           |   |__7q11.23 duplication syndrome
           |   |__autosomal dominant nonsyndromic deafness 51
           |   |__chromosome 1p36.33 duplication syndrome
           |   |__chromosome 1q21.1 duplication syndrome
           |   |__chromosome 2q31.1 duplication syndrome
           |   |__chromosome 3q29 microduplication syndrome
           |   |__chromosome 5p13 duplication syndrome
           |   |__chromosome 11 partial duplication syndrome
           |   |__chromosome 16p11.2 duplication syndrome
           |   |__chromosome 16p13.3 duplication syndrome
           |   |__chromosome 17p13.3 duplication syndrome
           |   |__chromosome 17q12 duplication syndrome
           |   |__chromosome 17q21.31 duplication syndrome
           |   |__chromosome 22q11.2 microduplication syndrome
           |   |__chromosome 22q13 duplication syndrome
           |   |__chromosome Xp11.23-p11.22 duplication syndrome
           |   |__Down syndrome 46 rec.
           |   |__Edwards syndrome
           |   |__hereditary mixed polyposis syndrome 1
           |   |__Klinefelter syndrome
           |   |__partial trisomy distal 4q
           |   |__Potocki-Lupski syndrome
           |   |__split hand-foot malformation 3
           |   |__syndactyly type 1
           |   |__syndromic X-linked intellectual disability Lubs type 4 rec.
           |__Patau syndrome
           |__Prader-Willi syndrome
           |__ring chromosome syndrome
               |__ring chromosome 14 syndrome
               |__ring chromosome 20 syndrome