KnowraRare diseaseLinked fromLinked fromThe 15 pages that link to Rare disease, each with the reason it gives.All 15Related 6Narrower topic 7Compared with 2Congenital disorderRelated: Many congenital disorders are rare, creating challenges for diagnosis and specialized care.Whole-genome sequencingRelated: Genome sequencing can identify variants underlying rare, difficult-to-diagnose conditions.De novo mutationRelated: De novo variants account for some rare disorders, especially when a condition is severe and dominant.Case reportRelated: Individual reports can describe its presentation and course in clinical detail.Birth defectRelated: Many rare diseases include congenital abnormalities and require specialized care.1p36 deletion syndromeRelated: Its rarity can affect access to expertise and coordinated services.