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Results: 1 to 20 of 32

1.

Neurofibroma

A moderately firm, benign, encapsulated tumor resulting from proliferation of SCHWANN CELLS and FIBROBLASTS that includes portions of nerve fibers. The tumors usually develop along peripheral or cranial nerves and are a central feature of NEUROFIBROMATOSIS 1, where they may occur intracranially or involve spinal roots. Pathologic features include fusiform enlargement of the involved nerve. Microscopic examination reveals a disorganized and loose cellular pattern with elongated nuclei intermixed with fibrous strands. (From Adams et al., Principles of Neurology, 6th ed, p1016) [from MeSH]

MedGen UID:
45058
Concept ID:
C0027830
Neoplastic Process
2.

Down-regulation

A negative regulatory effect on physiological processes at the molecular, cellular, or systemic level. At the molecular level, the major regulatory sites include membrane receptors, genes (GENE EXPRESSION REGULATION), mRNAs (RNA, MESSENGER), and proteins. [from MeSH]

MedGen UID:
4386
Concept ID:
C0013081
Molecular Function
3.

Death

Irreversible cessation of all bodily functions, manifested by absence of spontaneous breathing and total loss of cardiovascular and cerebral functions. [from MeSH]

MedGen UID:
3696
Concept ID:
C0011065
4.

SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME

MedGen UID:
762199
Concept ID:
C3542022
Disease or Syndrome
5.

Indicated

MedGen UID:
731837
Concept ID:
C1444656
Finding
6.

Neurofibromas

The presence of multiple cutaneous neurofibromas. [from HPO]

MedGen UID:
504707
Concept ID:
CN001002
Finding
7.

Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis

SOFT syndrome is characterized by severely short long bones, peculiar facies associated with paucity of hair, and nail anomalies. Growth retardation is evident on prenatal ultrasound as early as the second trimester of pregnancy, and affected individuals reach a final stature consistent with a height age of 6 years to 8 years. Relative macrocephaly is present during early childhood but head circumference is markedly low by adulthood. Psychomotor development is normal. Facial dysmorphism includes a long, triangular face with prominent nose and small ears, and affected individuals have an unusual high-pitched voice. Clinodactyly, brachydactyly, and hypoplastic distal phalanges and fingernails are present in association with postpubertal sparse and short hair. Typical skeletal findings include short and thick long bones with mild irregular metaphyseal changes, short femoral necks, and hypoplastic pelvis and sacrum. All long bones of the hand are short, with major delay of carpal ossification and cone-shaped epiphyses. Vertebral body ossification is also delayed (summary by Sarig et al., 2012). [from OMIM]

MedGen UID:
472512
Concept ID:
CN143712
Disease or Syndrome
8.

Neurofibromatosis-Noonan syndrome

MedGen UID:
419089
Concept ID:
C2931482
Disease or Syndrome
9.

metaplastic cell transformation

The conversion of a cell from a normal phenotype, which undergoes a limited number of mitotic divisions, into an aberrant phenotype that is immortal and divides indefinitely. Transformed cells no longer retain cell-cycle checkpoints and may ultimately become malignant cancer cells via additional genetic mutations, or damaging environmental events. [from NCI]

MedGen UID:
266929
Concept ID:
C1510411
Pathologic Function
10.

Malignant Peripheral Nerve Sheath Tumor

A malignant neoplasm, originating from the sheaths of the peripheral nerve. [from NCI]

MedGen UID:
155614
Concept ID:
C0751690
Neoplastic Process
11.

Proliferation

Growth and reproduction of new similar forms, e.g. cells, buds, or offspring. [from NCI]

MedGen UID:
137720
Concept ID:
C0334094
Pathologic Function
12.

Mutant

An altered form of an individual, organism, population, or genetic character that differs from the corresponding wild type due to one or more alterations (mutations). [from NCI]

MedGen UID:
109303
Concept ID:
C0596988
Cell or Molecular Dysfunction
13.

Neurofibromatoses

Neurofibromatosis is a genetic disorder of the nervous system. It mainly affects how nerve cells form and grow. It causes tumors to grow on nerves. You can get neurofibromatosis from your parents, or it can happen because of a mutation (change) in your genes. Once you have it, you can pass it along to your children. . There are three types of neurofibromatosis: : - Type 1 (NF1) causes skin changes and deformed bones and usually starts at birth. - Type 2 (NF2) causes hearing loss, ringing in the ears and poor balance. It often starts in the teen years. - Schwannomatosis causes intense pain. It is the rarest type. There is no cure. Treatment is aimed at controlling symptoms. Depending on the type of disease and how bad it is, treatment may include surgery to remove tumors, radiation therapy and medicines. . NIH: National Institute of Neurological Disorders and Stroke.  [from MedlinePlus]

MedGen UID:
58149
Concept ID:
C0162678
Neoplastic Process
14.

Neoplasm Metastasis

The spread of cancer from one part of the body to another. A tumor formed by cells that have spread is called a "metastatic tumor" or a "metastasis." The metastatic tumor contains cells that are like those in the original (primary) tumor. [from NCI]

MedGen UID:
45032
Concept ID:
C0027627
Neoplastic Process
15.

Neurofibromatosis, type 1

Neurofibromatosis 1 (NF1) is characterized by multiple café-au-lait spots, axillary and inguinal freckling, multiple cutaneous neurofibromas, and iris Lisch nodules. Learning disabilities are present in at least 50% of individuals with NF1. Less common but potentially more serious manifestations include plexiform neurofibromas, optic nerve and other central nervous system gliomas, malignant peripheral nerve sheath tumors, scoliosis, tibial dysplasia, and vasculopathy. [from GeneReviews]

MedGen UID:
18013
Concept ID:
C0027831
Neoplastic Process
16.

Perineurioma

A rare, benign tumor composed entirely of neoplastic perineurial cells. It may occur intraneurally or in the soft tissues. (Adapted from WHO) [from NCI]

MedGen UID:
199712
Concept ID:
C0751691
Neoplastic Process
17.

Nerve sheath tumor

Neoplasms which arise from nerve sheaths formed by SCHWANN CELLS in the PERIPHERAL NERVOUS SYSTEM or by OLIGODENDROCYTES in the CENTRAL NERVOUS SYSTEM. Malignant peripheral nerve sheath tumors, NEUROFIBROMA, and NEURILEMMOMA are relatively common tumors in this category. [from MeSH]

MedGen UID:
64639
Concept ID:
C0206727
Neoplastic Process
18.

Neoplasm of the peripheral nervous system

Neoplasms which arise from peripheral nerve tissue. This includes NEUROFIBROMAS; SCHWANNOMAS; GRANULAR CELL TUMORS; and malignant peripheral NERVE SHEATH NEOPLASMS. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp1750-1) [from MeSH]

MedGen UID:
45817
Concept ID:
C0031118
Neoplastic Process
19.

Neoplasm of nervous system

A benign or malignant, primary or metastatic neoplasm involving the central or peripheral nervous system. [from NCI]

MedGen UID:
45046
Concept ID:
C0027766
Neoplastic Process
20.

Peripheral Neuropathy

Your peripheral nerves are the ones outside your brain and spinal cord. Like static on a telephone line, peripheral nerve disorders distort or interrupt the messages between the brain and the rest of the body. . There are more than 100 kinds of peripheral nerve disorders. They can affect one nerve or many nerves. Some are the result of other diseases, like diabetic nerve problems. Others, like Guillain-Barre syndrome, happen after a virus infection. Still others are from nerve compression, like carpal tunnel syndrome or thoracic outlet syndrome. In some cases, like complex regional pain syndrome and brachial plexus injuries, the problem begins after an injury. Some people are born with peripheral nerve disorders. Symptoms often start gradually, and then get worse. They include : - Numbness. - Pain. - Burning or tingling. - Muscle weakness. - Sensitivity to touch. Treatment aims to treat any underlying problem, reduce pain and control symptoms. NIH: National Institute of Neurological Disorders and Stroke.  [from MedlinePlus]

MedGen UID:
18386
Concept ID:
C0031117
Disease or Syndrome

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