Disease Directory

Aorto-ventricular tunnel is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Aortopulmonary coronary arterial course is an extremely rare condition. Because few cases have been documented, detailed clinical information is limit...

Aphalangy-syndactyly-microcephaly syndrome is an extremely rare malformation syndrome characterized by partial distal aphalangia, syndactyly, duplicat...

Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome is an extremely rare condition. Because few cases have been documen...

Aplasia cutis autosomal recessive is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Aplasia cutis congenita (ACC) is a rare skin disorder characterized by the localized absence of skin, primarily on the scalp, but it can also occur on...

Aplasia cutis congenita dominant is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Aplasia cutis congenita-intestinal lymphangiectasia syndrome is an extremely rare condition characterized by congenital absence of skin on the head an...

Aplasia cutis-myopia syndrome is a rare genetic disorder characterized by the combination of aplasia cutis congenita, high myopia, congenital nystagmu...

Aplasia of the lacrimal and salivary glands (ALSG) is a rare disorder that primarily affects the development of the tear and saliva-producing glands....

Aplastic anemia is a condition characterized by the failure of bone marrow to produce sufficient blood cells, leading to significant decreases in eryt...

Apnea of prematurity is a developmental disorder that affects premature infants by causing pauses in breathing often accompanied by a reduced heart ra...

apodia is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

apodia, bilateral is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

apodia, unilateral is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Information about the overview is currently limited for this condition.

Apolipoprotein C-III deficiency is associated with variants in the APOC3 gene, which plays a crucial role in lipid metabolism. While the exact inherit...

Apparent mineralocorticoid excess (AME) is an endocrine and renal disorder that causes the body to behave as though it is producing too much of the sa...

Appendiceal neoplasm is a condition characterized by the presence of a tumor in the appendix, which may be either benign or malignant. Because it can...

appendix L-cell glucagon-like peptide-producing neuroendocrine tumor is an extremely rare condition. Because few cases have been documented, detailed...