![]() Kohler S, Gargano M, Matentzoglu N, et al., The Human Phenotype Ontology in 2021, Nucleic Acids Research, Volume 49, Issue D1, 8 January 2021, Pages D1207–D1217.ĭata from the National Center for Biotechnology Information's MedGen is used to provide genetic testing information available for a disease. Orphanet is an online database of rare diseases and orphan drugs. Reference: Access aggregated data from Orphanet at Orphadata.Reference: UMLS Vocabulary Standards and Mappings Downloadsĭata from Orphanet and Human Phenotype Ontology (HPO) are used to provide information on a disease's symptoms, genes, inheritance, population estimates, and more. ![]() The National Library of Medicine's Unified Medical Language System (UMLS) is used to classify and organize diseases and disease categories. When two carriers of an autosomal recessive disease have children, there is a 25% (1 in 4) chance to have a child who has the disease. Carriers of an autosomal recessive disease usually do not have any symptoms of the disease. Each parent is a carrier which means they have a pathogenic variant in only one copy of the gene. Mutation is an older term that is still sometimes used to mean pathogenic variant.Ī person who has an autosomal recessive disease receives a gene with a pathogenic variant from each of their parents. Recessive means that both copies of the responsible gene must have a disease-causing change (pathogenic variant) in order for a person to have the disease. Genes, like chromosomes, usually come in pairs. Autosomal means the gene is located on any chromosome except the X or Y chromosomes (sex chromosomes). ![]()
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