Rare Disease Classifications

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Metabolic disorders

Sub Categories Count : 14 Categories
Diseases resulting from a malfunction in metabolic processes, which may occur due to a deficiency of an enzyme or hormone, leading to the accumulation of harmful substances or a deficiency of important substances.
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Imprinting disorders

Diseases that occur due to changes in the way genes work, without a change in the DNA sequence itself.
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Chromosome disorders

Sub Categories Count : 2 Categories
Chromosomal disorders are abnormalities in the number or structure of chromosomes, leading to growth and developmental issues, such as Down syndrome caused by an extra chromosome.
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Biological disorders without phenotype

Sub Categories Count : 5 Categories
Biological disorders without phenotype refer to conditions that involve biochemical or molecular abnormalities without causing noticeable symptoms or visible changes in structure or function.
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Ciliopathy

Sub Categories Count : 12 Categories
Ciliopathy is a group of genetic disorders caused by defects in the function or structure of cilia, which are microscopic cellular structures involved in movement and signaling. This condition can lead to respiratory issues, vision impairment, kidney disorders, and neurodevelopmental abnormalities.
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ENT diseases (Ear, Nose, and Throat diseases)

Sub Categories Count : 4 Categories
Otorhinolaryngologic diseases include a wide range of conditions affecting the upper respiratory tract, hearing, and balance. These include sinusitis, otitis media, hearing loss, voice disorders, and vertigo. They may result from infections, genetic factors, or structural abnormalities.
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Hereditary angioedema (HAE)

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Hereditary angioedema (HAE) is a rare genetic disorder that causes recurrent swelling in the skin, gastrointestinal tract, and airways due to a deficiency or dysfunction of C1 inhibitor, a protein that regulates the immune response. Severe attacks can lead to airway obstruction and serious complications.
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Genetic imprinting disorders

Sub Categories Count : 12 Categories
Genetic imprinting disorders are genetic conditions caused by changes in how genes are expressed in cells without altering the DNA sequence itself. This occurs due to the addition or removal of chemical marks on genes (such as methylation) that affect their activity. Common examples of these disorders include Prader-Willi syndrome and Angelman syndrome.
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Genetic predisposition syndromes for cancer

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Cancer predisposition syndromes are genetic disorders that increase the risk of cancer due to mutations in genes affecting DNA repair and cell growth regulation. Known examples include Li-Fraumeni syndrome and hereditary breast-ovarian cancer syndrome. Individuals with these syndromes are at higher risk for early cancer development.
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