Dappled diaphyseal dysplasia is a skeletal condition primarily affecting the long bones. Although its precise biological cause is not yet defined, cur...

Darier disease is a keratinization disorder primarily affecting the skin, with characteristic keratotic papules in seborrheic areas and distinctive na...

Dartoic leiomyoma is a benign cutaneous tumor that arises from the smooth muscle tissue of the dartos muscle in the scrotum or labia majora. It is typ...

d-bifunctional protein deficiency is a severe metabolic disorder that impairs the ability to break down dietary fats. This condition arises from mutat...

DCTN1-related neurodegeneration refers to a group of neurodegenerative disorders caused by a mutation in the DCTN1 gene. This genetic change affects h...

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...

Deaf blind hypopigmentation syndrome, Yemenite type is an exceedingly rare inherited condition that primarily affects the skin, eyes, and hearing. The...

Deafness, aminoglycoside-induced is a condition characterized by hearing loss that occurs following exposure to specific antibiotics known as aminogly...

Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 is a condition that primarily affects hearing and dental development. It is associat...

Deafness, congenital, with total albinism is a condition in which individuals are born with significant hearing impairment together with a complete la...

Deafness-craniofacial syndrome is a condition characterized by congenital sensorineural hearing loss and distinct facial features such as facial asymm...

Deafness dystonia syndrome is an X-linked recessive neurodegenerative condition that primarily affects males, with clinical manifestations beginning i...

Deafness-ear malformation-facial palsy syndrome is a very rare condition that affects the ears and facial nerves, leading to profound conductive heari...

Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disorder that affects multiple organ systems, including the nervous...

Deafness-epiphyseal dysplasia-short stature syndrome is a very rare condition that affects the skeletal system, hearing, and developmental progress. I...

Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is a very rare condition, affecting fewer than 1 in 1,000,000 people, that pr...

Deafness-hypogonadism syndrome is a very rare condition that is characterized by congenital mixed hearing loss, hypogonadism, and abnormal behavior. I...

Deafness-infertility syndrome (DIS) is a very rare condition that affects both the auditory system and male reproductive function. It is characterized...