01
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- Endometriosis of uterus
- Standard Disease Name
- endometriosis of uterus
- MeSH Tree
- No data
- ICD-10
- Q85.02
Identifiers
- DO ID
- No data
- MeSH ID
- D016518
- OMIM ID
- 101000|607379
- UMLS ID
- C0027832
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_NCI-GLOSS_1602D:A genetic condition in which tumors form on the nerves of the inner ear and cause loss of hearing and balance. Tumors may also occur in the brain and on nerves in the skull and spinal cord, and may cause loss of speech, eye movement, and the ability to swallow.|NCI2016_02D:An autosomal dominant disorder caused by mutations in the NF2 tumor suppressor gene. It is characterized by the development of peripheral and central nervous system tumors including acoustic schwannomas, neurofibromas, gliomas, and meningiomas.|MSH2017_2016_08_12: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.
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Related Targets
target disease8 Targets
