Disease Directory

Chromosome 5 disorder is a chromosomal condition in which an abnormality affecting chromosome 5 is present. Although the precise genetic mechanisms re...

Chromosome 5Q14.3 deletion syndrome, distal is a condition associated with a chromosomal deletion in the distal region of the long arm of chromosome 5...

Chromosome 5p13 duplication syndrome is a rare chromosomal disorder characterized by extra genetic material on the short arm of chromosome 5, which le...

Chromosome 5q12 deletion syndrome is a very rare condition that presents as a syndromic intellectual disability with characteristic physical features....

Chromosome 6 disorder is a chromosomal condition in which chromosome 6 is affected. This condition falls under a category of chromosomal disorders, an...

Chromosome 6pter-p24 deletion syndrome is a condition caused by a deletion in the distal region of the short arm of chromosome 6, leading to a recogni...

Chromosome 6q11-q14 deletion syndrome is a condition characterized by a deletion in a segment of chromosome 6, leading to a range of developmental and...

Chromosome 6q24-q25 deletion syndrome, also known as 6q25 microdeletion syndrome, is a condition that has been recently described and is characterized...

Chromosome 7 disorder is a chromosomal condition in which part or all of chromosome 7 is affected. The condition is characterized by chromosomal abnor...

Chromosome 8 disorder is a chromosomal condition in which an abnormality affecting chromosome 8 is present. This condition is categorized as a chromos...

Chromosome 8 trisomy is a chromosomal abnormality characterized by the presence of an extra copy of chromosome 8 in somatic cells. This condition repr...

Chromosome 8-derived supernumerary ring/marker is a rare chromosomal anomaly in which extra, ring-shaped chromosomal material is present, leading to a...

Chromosome 8Q12.1-q21.2 deletion syndrome is a condition thought to affect multiple body systems, although detailed descriptions of its clinical prese...

Chromosome 8q21.11 deletion syndrome is a condition caused by heterozygous overlapping microdeletions in the 8q21.11 region that primarily affects neu...

Chromosome 9 disorder is a chromosomal condition in which structural or numerical abnormalities involving chromosome 9 can lead to a diverse range of...

Chromosome 9p deletion syndrome, also known as monosomy 9p, is a rare chromosomal anomaly that affects multiple organ systems including the craniofaci...

Chromosome X disorder is a chromosomal condition where part of chromosome X is affected. It is categorized as a chromosomal disorder, and the precise...

Chromosome Xp11.22 duplication syndrome is an X-linked condition that primarily affects neurodevelopment, with intellectual disability being a definin...

Chromosome Xp11.23-p11.22 duplication syndrome is a very rare inborn error of vitamin B12 metabolism that falls under the category of methylmalonic ac...

Chromosome Xp21 deletion syndrome is a condition that arises from a deletion affecting the short arm of the X chromosome. Although the full range of c...