Disease Directory

AMED syndrome, digenic is a rare condition that is known by several names, including AMeD syndrome, aplastic anemia-intellectual disability-dwarfism s...

ANE syndrome is a rare genetic disorder that affects the nervous system, skin, and hormone-producing glands. It is marked by a mix of features such as...

Information about overview is currently limited for this condition.

APO A-i deficiency is a rare disease. Detailed information about this condition is currently limited in medical literature.

AREDYLD syndrome stands for acral-renal-ectodermal-dysplasia-lipoatrophic-diabetes. This syndrome has been described in three individuals. People with...

ARL6-related ciliopathy is a type of ciliopathy that is caused by variants in the ARL6 gene. Ciliopathies are a group of disorders that affect the cil...

ASAH1-related sphingolipidosis is a spectrum of disorders linked to changes in the ASAH1 gene. This gene makes an enzyme known as acid ceramidase, whi...

ATF6-related retinopathy is a type of retinopathy that occurs due to changes in both copies (biallelic variants) of the ATF6 gene. This condition affe...

ATM-related cancer predisposition is a hereditary condition caused by changes in the ATM gene. This condition is passed down in an autosomal dominant...

ATP6AP2-related disorder is a rare condition caused by changes in a gene called ATP6AP2. These genetic variations have been linked to several overlapp...

ATTRV122I amyloidosis is a rare inherited disease that falls under the group of Transthyretin (TTR)-related systemic amyloidoses. In this condition, a...

ATTRV30M amyloidosis is a rare, inherited condition where a protein called transthyretin builds up in the body. This buildup can cause damage to nerve...

AXIN2-related attenuated familial adenomatous polyposis is a rare condition that has been identified through resources like Orphanet and GARD. It is a...

Aagenaes syndrome, also known as cholestasis-lymphedema syndrome, is a rare genetic disorder that begins in the neonatal period. It features intrahepa...

Aarskog-Scott syndrome (AAS) is a rare developmental disorder that affects the face, limbs, and genital areas, and is associated with a disproportiona...

Aase-Smith syndrome type I is a very rare genetic disorder. People with this condition are born with several congenital malformations, including a bui...

Abruzzo-Erickson syndrome is a condition that includes several differences present from birth. It is characterized by a range of congenital anomalies...

Acanthamoeba keratitis is an infection of the cornea most frequently associated with soft contact lens use, particularly when lenses are worn overnigh...

Achilles bursitis is a condition involving inflammation in the bursa located near the calcaneal tendon. This inflammation represents a pathogenic resp...

Ackerman syndrome is a rare condition that is mainly characterized by abnormal dental features, including pyramidal molar roots and taurodontism. In s...