|
DOID:4
|
disease
|
A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism. |
|
DOID:225
|
syndrome
|
A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality. |
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DOID:0050177
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monogenic disease
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A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive. |
|
DOID:630
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genetic disease
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A disease that has_material_basis_in genetic variations in the human genome. |
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DOID:0050736
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autosomal dominant disease
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An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. |
|
DOID:0050739
|
autosomal genetic disease
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A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes. |
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DOID:0080690
|
RASopathy
|
A syndrome that has_material_basis_in mutations in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction. |
|
DOID:3204
|
schwannomatosis
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A RASopathy characterized by the development of schwannomas or hybrid nerve sheath tumors. |
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DOID:0111252
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vestibular schwannomatosis
|
A schwannomatosis characterized by bilateral vestibular schwannomas or a combination of unilateral vestibular schwannomas, non-vestibular schwannomas, meningiomas, ependymomas, and specific eye abnormalities that has_material_basis_in heterozygous mutation in the NF2 gene on chromosome 22q12.2. Eye abnormalities include juvenile subcapsular or cortical cataract, epiretinal membrane in a person less than 40 years old, and retinal hamartoma. This disease has been revised by international consensus. It was previously referred to as neurofibromatosis 2. |
