Disease Directory

Distal 10q deletion syndrome is a chromosomal anomaly caused by a terminal deletion of the long arm of chromosome 10, which leads to a distinctive set...

Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly that results from a partial deletion on the short arm of chromosome 16. This condi...

Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly that affects several aspects of development, particularly cognitive and physical g...

Distal 17p13.3 microdeletion syndrome is a rare condition resulting from a deletion on the short arm of chromosome 17. Individuals with this syndrome...

Distal 22q11.2 microduplication syndrome is a rare chromosomal condition caused by the duplication of a small part of the long arm of chromosome 22. T...

Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly that affects brain development and neurological function. Individuals with the con...

Distal 7q11.23 microduplication syndrome is a rare chromosomal anomaly primarily affecting neuropsychiatric function and, in some cases, physical appe...

Distal Xq28 microduplication syndrome is a rare, hereditary condition that primarily manifests as syndromic intellectual disability, with affected mal...

Distal arthrogryposis is a muscle tissue condition primarily characterized by congenital joint contractures of the hands and feet. It is evident from...

Distal arthrogryposis Moore weaver type, also known as Moore Weaver syndrome, is a condition primarily characterized by congenital contractures that a...

Distal arthrogryposis type 10 is a developmental condition that primarily affects the musculoskeletal system, with characteristic joint contractures i...

Distal arthrogryposis type 2B1 is a congenital condition primarily affecting the joints of the hands and feet, leading to reduced range of motion and...

Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome that primarily affects the joints of the hands, feet, shoulders, nec...

Distal biliary tract carcinoma is a type of cancer that arises from the common bile duct distal to the insertion of the cystic duct. Currently, no spe...

Distal chromosome 18q deletion syndrome is a chromosomal abnormality that occurs when a segment at the end of the long arm of chromosome 18 is missing...

Distal hereditary motor neuropathy is a condition that primarily affects the peripheral motor nerves, leading to weakness and degeneration in the musc...

Distal hereditary motor neuropathy type 2, also known as dHMN2, dSMA2, or distal spinal muscular atrophy type 2, is a neurological condition that prim...

Distal hereditary motor neuropathy type 7 is a rare, slowly progressive genetic peripheral neuropathy that primarily affects the distal muscles of the...

Distal monosomy 10p is a chromosomal disorder caused by the deletion of the tip of the short arm of chromosome 10, leading to a wide range of clinical...

Distal monosomy 12p is a rare chromosomal condition caused by the loss of a portion of the short arm of chromosome 12. It is characterized by language...