Additional Disease Briefs

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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
brachyolmia-amelogenesis imperfecta syndrome

Also known as: DASS, STHAG6, Verloes Bourguignon syndrome, Verloes-Bourguignon syndrome, amelogenesis imperfecta and platyspondyly, dental anomalies and short stature, platyspondyly with amelogenesis imperfecta, platyspondyly-amelogenesis imperfecta syndrome, selective tooth agenesis 5, skeletal dysplasia with amelogenesis imperfecta and platyspondyly, tooth agenesis, selective, 6, tooth agenesis, selective, 6, formerly

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

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