TYPE 2 NEUROFIBROMATOSIS
\tˈa͡ɪp tˈuː njˌuːɹəfˌɪbɹəmɐtˈə͡ʊsɪs], \tˈaɪp tˈuː njˌuːɹəfˌɪbɹəmɐtˈəʊsɪs], \t_ˈaɪ_p t_ˈuː n_j_ˌuː_ɹ_ə_f_ˌɪ_b_ɹ_ə_m_ɐ_t_ˈəʊ_s_ɪ_s]\
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An autosomal dominant disorder characterized by a high incidence of bilateral acoustic neuromas as well as schwannomas (NEURILEMMOMA) of other cranial and peripheral nerves, and other benign intracranial tumors including meningiomas, ependymomas, spinal neurofibromas, and gliomas. The disease has been linked to mutations of the NF2 gene (GENES, NEUROFIBROMATOSIS 2) on chromosome 22 (22q12) and usually presents clinically in the first or second decade of life.
By DataStellar Co., Ltd
Word of the day
Procollagen Proline Dioxygenase
- mixed-function oxygenase that catalyzes hydroxylation prolyl-glycyl-containing-peptide, usually in protocollagen, hydroxyprolylglycyl-peptide. The enzyme utilizes molecular oxygen with a concomitant oxidative decarboxylation of 2-oxoglutarate to succinate. EC 1.14.11.2.
Nearby Words
- type 1 plasminogen activator inhibitor
- type 1 spinocerebellar ataxia
- type 2 duane retraction syndrome
- type 2 gaucher disease
- type 2 neurofibromatoses
- Type 2 Neurofibromatosis
- type 2 plasminogen activator inhibitor
- type 2 spinocerebellar ataxia
- type 3 duane retraction syndrome
- type 3 gaucher disease
- type 3 hereditary sensory neuropathy, dominant