Version: 8.0.0Date: Tue Jan 28 2025
Disease Genes: Nf2 (Rno)
Disease
Source: DOID:1826
Definition: A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.
Genes: Nf2 (Rno)
Disease
Source: DOID:684
Definition: A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.
Genes: Nf2 (Rno)
Disease
Source: DOID:12270
Definition: An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc.
Genes: Nf2 (Rno)
Disease
Source: DOID:9256
Definition: A large intestine cancer that is located_in the colon and/or located_in the rectum.
Genes: Nf2 (Rno)
Source: DOID:3908
Definition: A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.
Genes: Nf2 (Rno)
Disease
Source: DOID:3192
Definition: A neuroma that is characterized as a benign nerve sheath tumor that is composed of Schwann cells.
Genes: Nf2 (Rno)
Disease
Source: DOID:4450
Definition: A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.
Genes: Nf2 (Rno)
Disease
Source: DOID:3565
Definition: A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid cap cells of the arachnoid villi in the meninges.
Genes: Nf2 (Rno)
Disease
Source: DOID:10754
Definition: A otitis which involves inflammation of the middle ear.
Genes: Nf2 (Rno)
Disease
Source: DOID:0111252
Definition: 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.
Genes: Nf2 (Rno)
Source: DOID:7474
Definition: A pleural cancer that has_material_basis_in mesothelium cells.
Genes: Nf2 (Rno)