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Results: 1 to 20 of 22

1.

Neurofibromas

The presence of multiple cutaneous neurofibromas. [from HPO]

MedGen UID:
504707
Concept ID:
CN001002
Finding
2.

Neurofibromatosis-Noonan syndrome

MedGen UID:
419089
Concept ID:
C2931482
Disease or Syndrome
3.

Neurofibromatosis

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
4.

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
5.

Cystic fibrosis

CFTR-related disorders include cystic fibrosis (CF) and congenital absence of the vas deferens (CAVD). Cystic fibrosis affects epithelia of the respiratory tract, exocrine pancreas, intestine, male genital tract, hepatobiliary system, and exocrine sweat glands, resulting in complex multisystem disease. Pulmonary disease is the major cause of morbidity and mortality in CF. Affected individuals have lower airway inflammation and chronic endobronchial infection, progressing to end-stage lung disease characterized by extensive airway damage (bronchiectasis, cysts, and abscesses) and fibrosis of lung parenchyma. Meconium ileus occurs at birth in 15%-20% of newborns with CF. Pancreatic insufficiency with malabsorption occurs in the great majority of individuals with CF. More than 95% of males with CF are infertile as a result of azoospermia caused by absent, atrophic, or fibrotic Wolffian duct structures. CAVD occurs in men without pulmonary or gastrointestinal manifestations of CF. Affected men have azoospermia and are thus infertile. [from GeneReviews]

MedGen UID:
41393
Concept ID:
C0010674
Disease or Syndrome
6.

Fibrosis

The formation of fibrous tissue; fibroid or fibrous degeneration. [from NCI]

MedGen UID:
5179
Concept ID:
C0016059
Pathologic Function
7.

Does not

MedGen UID:
721427
Concept ID:
C1299585
Finding
8.

Energy

MedGen UID:
603300
Concept ID:
C0424589
Finding
9.

Localized

Restricted to the site of origin, without evidence of spread. [from NCI_NCI-GLOSS]

MedGen UID:
98236
Concept ID:
C0392752
10.

Peptide Biosynthesis

The chemical reactions and pathways resulting in the formation of peptides, compounds of 2 or more (but usually less than 100) amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another. This may include the translation of a precursor protein and its subsequent processing into a functional peptide. [CHEBI:16670, GOC:dph, GOC:jl] [from GO]

MedGen UID:
272130
Concept ID:
C1327133
Molecular Function
11.

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
12.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
13.

Heredodegenerative Disorders, Nervous System

Inherited disorders characterized by progressive atrophy and dysfunction of anatomically or physiologically related neurologic systems. [from MeSH]

MedGen UID:
155945
Concept ID:
C0751870
Disease or Syndrome
14.

Genetic translation

ribosome mediated process by which polypeptide chains are synthesized, the aminoacid sequence being completely determined by the sequence of bases in a messenger RNA, which in turn is determined by the sequences of bases in the DNA of the gene from which it was transcribed. [from CRISP]

MedGen UID:
108933
Concept ID:
C0597295
Molecular Function
15.

Neurodegenerative Disorders

Neurodegenerative disorders, such as Hunter syndrome, or sensory motor neuropathies, such as Friedreich ataxia and Charcot-Marie-Tooth syndrome. [from LNC]

MedGen UID:
101195
Concept ID:
C0524851
Disease or Syndrome
16.

Nerve Sheath Neoplasm

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
17.

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
18.

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
19.

Hereditary cancer-predisposing syndrome

The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumor tends to occur at an earlier than average age, individuals may have more than one primary tumor, the tumors may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance. [from MeSH]

MedGen UID:
14326
Concept ID:
C0027672
Neoplastic Process
20.

Nervous tissue neoplasm

Neoplasms composed of nerve tissue. This concept does not refer to neoplasms located in the nervous system or its component nerves. [from MeSH]

MedGen UID:
14324
Concept ID:
C0027665
Neoplastic Process

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