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). Sources to Learn More: What Is a Gene? (MedlinePlus) What Are Proteins and What Do They Do? (MedlinePlus)Īutosomal means the gene is located on any chromosome except the X or Y chromosomes (sex chromosomes).

Sources to Learn More: What Is a Gene? (MedlinePlus) What Are Proteins and What Do They Do? (MedlinePlus) Understanding what genes are and how changes in genes may affect the body can help you on the journey to diagnosis and treatment of a genetic disease. Others make RNA molecules that are involved in chemical reactions in the body. Some genes can turn other genes on or off. Proteins are needed for the structure, function, and regulation of the body's cells, tissues, and organs. Some genes serve as the instructions to make proteins. DNA is found in the nucleus of a cell and, in humans, is packaged into 23 pairs of chromosomes with the help of special proteins.Įach gene performs a different job in our cells. Cells are the building blocks of all living things and specialized cells form our body's organs and tissues. Genes are part of our DNA, the basic genetic material found in each of our body's cells. Understanding what genes are and how changes in genes may affect the body can help you on the journey to diagnosis and treatment of a genetic disease.

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