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Results: 1 to 20 of 27

1.

I phenotype

MedGen UID:
714424
Concept ID:
C1292167
Finding
2.

Neurofibromas

The presence of multiple cutaneous neurofibromas. [from HPO]

MedGen UID:
504707
Concept ID:
CN001002
Finding
3.

Onset

The start, beginning, or early stages. [from NCI]

MedGen UID:
87142
Concept ID:
C0332162
4.

Neurofibromatoses

A group of disorders characterized by an autosomal dominant pattern of inheritance with high rates of spontaneous mutation and multiple neurofibromas or neurilemmomas. NEUROFIBROMATOSIS 1 (generalized neurofibromatosis) accounts for approximately 95% of cases, although multiple additional subtypes (e.g., NEUROFIBROMATOSIS 2, neurofibromatosis 3, etc.) have been described. (From Neurochirurgie 1998 Nov;44(4):267-72) [from MeSH]

MedGen UID:
58149
Concept ID:
C0162678
Neoplastic Process
5.

Cafe-au-lait spot

Light brown pigmented macules associated with NEUROFIBROMATOSIS and Albright's syndrome (see FIBROUS DYSPLASIA, POLYOSTOTIC). [from MeSH]

MedGen UID:
113157
Concept ID:
C0221263
Finding
6.

Lymphoma

An antiquated term referring to a malignant lymphoma that is diffused and composed of small and large lymphocytes. [from NCI]

MedGen UID:
44223
Concept ID:
C0024299
Neoplastic Process
7.

Diagnosis

The process of identifying a disease, such as cancer, from its signs and symptoms. [from NCI]

MedGen UID:
8354
Concept ID:
C0011900
Finding
8.

Multiple cafe-au-lait spots

The presence of six or more cafe-au-lait spots. [from HPO]

MedGen UID:
506088
Concept ID:
CN006634
Finding
9.

Lymphoma

A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells. [from HPO]

MedGen UID:
505322
Concept ID:
CN002422
Finding
10.

Neurofibromatosis-Noonan syndrome

MedGen UID:
419089
Concept ID:
C2931482
Disease or Syndrome
11.

T-cell lymphoma

A group of heterogeneous lymphoid tumors representing malignant transformations of T-lymphocytes. [from MeSH]

MedGen UID:
86957
Concept ID:
C0079772
Neoplastic Process
12.

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
13.

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
14.

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
15.

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

MedGen UID:
155945
Concept ID:
C0751870
16.

Neurodegenerative Disorders

A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function. [from NCI]

MedGen UID:
101195
Concept ID:
C0524851
Disease or Syndrome
17.

Neurocutaneous syndrome

A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs. [from MeSH]

MedGen UID:
82706
Concept ID:
C0265316
Congenital Abnormality
18.

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
19.

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
20.

Peripheral neuropathy

Diseases of the peripheral nerves external to the brain and spinal cord, which includes diseases of the nerve roots, ganglia, plexi, autonomic nerves, sensory nerves, and motor nerves. [from MeSH]

MedGen UID:
18386
Concept ID:
C0031117
Disease or Syndrome

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