Additional Disease Briefs

Get Information about a Rare Disease

Use the form below to explore NORD's comprehensive rare disease database. Search for detailed information on rare diseases, including NORD's authoritative Rare Disease Reports and data from other reliable sources.
* = NORD Rare Disease Report

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Rare Disease Database Reports Additional Rare Disease Briefs
ACys amyloidosis

Also known as: CST3-related amyloidosis, CST3-related cerebral amyloid angiopathy, HCHWA, Icelandic type, amyloidosis 6, amyloidosis VI, amyloidosis, Cerebroarterial, Icelandic type, cerebral amyloid angiopathy, cerebral amyloid angiopathy, CST3-related, cerebral hemorrhage, hereditary, with amyloidosis, cystatin amyloidosis, hereditary cerebral haemorrhage with amyloidosis, hereditary cerebral haemorrhage with amyloidosis, Icelandic type, hereditary cerebral hemorrhage with amyloidosis, hereditary cerebral hemorrhage with amyloidosis, Icelandic type, hereditary cystatin C amyloid angiopathy

adactylia, unilateral

Also known as: Adactyly of hand, unilateral, adactylia unilateral, adactylia, unilateral, congenital absence/hypoplasia of fingers excluding thumb, unilateral, digits 2-5 hypodactyly, unilateral, digits 2-5 oligodactyly, unilateral, terminal transverse defects of hand, unilateral

adamantinoma

Also known as: Extragnathic adamantinoma, adamantinoma, adamantinoma of long bone, adamantinoma of long bones, adamantinoma of long bones (morphologic abnormality), adamantinoma, malignant, long bone adamantinoma

Adams-Oliver syndrome 1

Also known as: AOS, AOS1, ARHGAP31 Adams-Oliver syndrome, Adams-Oliver syndrome 1, Adams-Oliver syndrome caused by mutation in ARHGAP31, absence defect of limbs, scalp, and skull, aplasia cutis congenita with terminal transverse limb defects, aplasia cutis congenita, congenital heart defect, and frontonasal cysts, congenital scalp defects with distal limb reduction anomalies

Adams-Oliver syndrome 2

Also known as: AOS2, Adams-Oliver syndrome 2, Adams-Oliver syndrome caused by mutation in DOCK6, Adams-Oliver syndrome type 2, DOCK6 Adams-Oliver syndrome

Adams-Oliver syndrome 3

Also known as: AOS3, Adams-Oliver syndrome 3, Adams-Oliver syndrome caused by mutation in RBPJ, Adams-Oliver syndrome type 3, RBPJ Adams-Oliver syndrome

Adams-Oliver syndrome 4

Also known as: AOS4, Adams-Oliver syndrome 4, Adams-Oliver syndrome caused by mutation in EOGT, Adams-Oliver syndrome type 4, EOGT Adams-Oliver syndrome

Adams-Oliver syndrome 5

Also known as: AOS5, Adams-Oliver syndrome 5, Adams-Oliver syndrome caused by mutation in NOTCH1, Adams-Oliver syndrome caused by mutation in Notch1, Adams-Oliver syndrome type 5, NOTCH1 Adams-Oliver syndrome, Notch1 Adams-Oliver syndrome

Adams-Oliver syndrome 6

Also known as: AOS6, Adams-Oliver syndrome 6, Adams-Oliver syndrome caused by mutation in DLL4, Adams-Oliver syndrome type 6, DLL4 Adams-Oliver syndrome

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