Disease Directory

Attenuated Chédiak-Higashi syndrome is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Attenuated familial adenomatous polyposis (AFAP) is a hereditary colorectal polyposis condition in which affected individuals develop far fewer colon...

Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome is an extremely rare condition. Because few cases have been documented, detailed clinical...

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

Atypical Norrie disease due to monosomy Xp11.3 is an extremely rare condition. Because few cases have been documented, detailed clinical information i...

Atypical Rett syndrome is a neurodevelopmental disorder that presents with features similar to classic Rett syndrome but without fulfilling all its di...

Atypical Werner syndrome is a condition within the spectrum of progeroid syndromes, in which individuals exhibit features of premature aging and devel...

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

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

Atypical childhood epilepsy with centrotemporal spikes is an extremely rare condition. Because few cases have been documented, detailed clinical infor...

Atypical choroid plexus papilloma is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Atypical chronic myeloid leukemia (aCML), BCR-ABL1 negative, is a myelodysplastic/myeloproliferative neoplasm characterized primarily by the involveme...

Atypical coarctation of aorta is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Atypical dentin dysplasia due to SMOC2 deficiency is an extremely rare condition. Because few cases have been documented, detailed clinical informatio...

Atypical dopamine transporter deficiency syndrome (DTDS) is a rare subtype of SLC6A3-related disorders characterized by later onset symptoms that usua...

Atypical glycine encephalopathy is a neurological disorder that affects how the brain processes the amino acid glycine. It results from changes in the...

Atypical hemolytic uremic syndrome (aHUS) with complement gene abnormality is a rare condition characterized by a combination of hemolytic anemia, acu...

Atypical hemolytic-uremic syndrome (aHUS) is a rare thrombotic microangiopathy characterized by hemolytic anemia, thrombocytopenia, and acute renal dy...

Atypical hemolytic-uremic syndrome (aHUS) with B factor anomaly is characterized by hemolytic-uremic syndrome and hypertension, with inheritance follo...

Atypical hemolytic-uremic syndrome with C3 anomaly is a disorder that primarily affects kidney function and involves abnormal complement regulation, a...