Disease Directory

DDOST-congenital disorder of glycosylation is a rare genetic condition that affects the way sugars are attached to proteins in the body. This process,...

DDX41-related hematologic malignancy predisposition syndrome is a hereditary condition where changes in the DDX41 gene lead to an increased risk of de...

DEAF1-associated neurodevelopmental disorder is a condition that affects the development of the brain and nervous system. People with this disorder ma...

DEND syndrome is a very rare condition that mainly appears in newborns. It is called a severe form of neonatal diabetes mellitus. In this condition, a...

Information about the overview is currently limited for this condition. There is not enough available information to provide a detailed explanation of...

DICER1-related tumor predisposition is a condition caused by a change in the DICER1 gene. This change, known as a pathogenic germline variation, is pa...

DK1-congenital disorder of glycosylation (DK1-CDG) is a rare genetic condition characterized primarily by muscular hypotonia and a skin condition know...

DKC1-related disorder is a type of dyskeratosis congenita, a condition that affects the skin, nails, and other parts of the body. This particular diso...

DMD-related muscular dystrophy is a condition primarily affecting muscle function and strength, with potential impacts on cognitive and neurological d...

DNA ligase IV deficiency, also known as LIG4 syndrome or ligase 4 syndrome, is a hereditary disorder that mainly affects the body’s ability to repair...

DNA repair disease is a condition based on the disruption of DNA repair mechanisms. DNA repair is a natural process in cells that fixes damage in the...

DNAJC21-related Shwachman Diamond syndrome is a rare condition linked to a change in the DNAJC21 gene. This form of Shwachman Diamond syndrome arises...

DNM1-encephalopathy and neurodevelopmental disorder is a rare condition caused by a variation in the DNM1 gene. This condition falls under a group of...

DOCK2 deficiency, also known as immunodeficiency type 40 or IMD40, is a rare genetic condition linked to changes in the DOCK2 gene. While detailed des...

This condition is a rare form of primordial dwarfism. It is characterized by congenital microcephaly, which means that the head size is smaller than n...

DOORS syndrome is a condition that affects several parts of the body. People with this condition often experience sensorineural hearing loss, abnormal...

DPAGT1-congenital disorder of glycosylation (DPAGT1-CDG) is a rare genetic condition that affects a process called N-linked glycosylation, which is im...

DPM3-congenital disorder of glycosylation (DPM3-CDG) is an extremely rare type of congenital disorder of glycosylation. This group of conditions affec...

DYRK1A-related intellectual disability syndrome is a very rare condition that primarily affects neurodevelopment, resulting in severe intellectual dis...

DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion is a rare genetic condition that involves the loss of a small piece...