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
bradyopsia

Also known as: PERRS, bradyopsia, prolonged electroretinal response suppression

brain glioblastoma

Also known as: brain glioblastoma, brain glioblastoma (disease), brain glioblastoma multiforme, brain glioblastoma multiforme (disease), glioblastoma (disease) of brain, glioblastoma multiforme of brain, glioblastoma multiforme of the brain, grade IV astrocytic neoplasm of brain, grade IV astrocytic neoplasm of the brain, grade IV astrocytic tumor of brain, grade IV astrocytic tumor of the brain, grade IV astrocytic tumour of brain, grade IV astrocytic tumour of the brain, grade IV brain astrocytic neoplasm, grade IV brain astrocytic tumor, grade IV brain astrocytic tumour

brain glioma

Also known as: brain malignant glioma, malignant glioma of brain

brain small vessel disease 1 with or without ocular anomalies

Also known as: ADT1P, BSVD, BSVD1, COL4A1 porencephaly, COL4A1-related brain small vessel disease with haemorrhage, COL4A1-related brain small vessel disease with hemorrhage, COL4A1-related familial vascular leukoencephalopathy, COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome, POREN1, T1P, autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy, brain small vessel disease with Axenfeld-Riegar anomaly, brain small vessel disease with axenfeld-rieger anomaly, brain small vessel disease with haemorrhage, brain small vessel disease with hemorrhage, brain small vessel disease with or without ocular anomalies, hemiplegia, infantile, with porencephaly, hemiplegia, infantile, with porencephaly porencephaly, type 1, infantile hemiparesis, leukoencephalopathy with axenfeld-rieger anomaly, porencephaly 1, porencephaly caused by mutation in COL4A1, porencephaly type 1, porencephaly, type 1, autosomal dominant, retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant

brain-lung-thyroid syndrome

Also known as: BLT syndrome, CAHTP, brain-lung-thyroid syndrome, choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction, choreoathetosis, hypothyroidism, and neonatal respiratory distress, choreoathetosis-hypothyroidism-neonatal respiratory distress, choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome

branched-chain keto acid dehydrogenase kinase deficiency

Also known as: BCKDK deficiency, BCKDKD, Bckdk deficiency, autism - epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency, branched-chain KETO acid dehydrogenase KINASE deficiency, branched-chain keto acid dehydrogenase kinase deficiency

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