Disease Directory

Choroidal atrophy-alopecia syndrome is a rare ectodermal dysplasia characterized by choroidal atrophy, fine and sparse hair, absent or decreased eyela...

Choroidal dystrophy, central areolar 2, is a genetic condition caused by mutations in the PRPH2 gene, which is known to play a critical role in the st...

Choroidal dystrophy, central areolar, 1 (CACD1) is a genetic condition caused by mutations in the GUCY2D gene, which is inherited in an autosomal domi...

Choroidal dystrophy, central areolar, 3 (CACD3) is characterized by an autosomal dominant inheritance pattern, indicating that a single copy of the mu...

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

Choroideremia is an X-linked chorioretinal dystrophy that primarily affects the eyes, leading to progressive degeneration of the choroid, retinal pigm...

Choroideremia hypopituitarism is an X-linked recessive disorder characterized by retinal degeneration, specifically affecting the choriocapillaris, re...

Choroideremia-deafness-obesity syndrome is an X-linked condition characterized by a combination of progressive retinal dystrophy that leads to night b...

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

Chromomycosis is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited. It is a chronic cutane...

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

Chromophobe renal cell carcinoma is a rare subtype of kidney cancer that originates in the intercalating cells of the collecting ducts. It typically m...

Chromosomal disorders refer to conditions caused by an abnormal chromosome constitution. This means that there is either extra or missing chromosome m...

Chromosome 1 disorder is a chromosomal abnormality in which changes affecting chromosome 1 are observed. This condition falls under the category of ch...

chromosome 1, uniparental disomy 1q12 q21 is an extremely rare condition. Because few cases have been documented, detailed clinical information is lim...

Chromosome 10 disorder is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Chromosome 10q23 deletion syndrome is a rare condition characterized by a partial monosomy affecting the 10q22.3q23.3 region. Clinically, it presents...

Chromosome 11 disorder is a condition characterized by structural or numerical abnormalities affecting chromosome 11. Because the precise genetic caus...

Chromosome 11p13 deletion syndrome, distal, is characterized by an autosomal dominant inheritance pattern. While the specific genetic basis has not be...

Chromosome 11q trisomy is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.