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Results: 1 to 20 of 45

1.

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
2.

Malignant neoplastic disease

A general term for autonomous tissue growth exhibiting morphologic features of malignancy (e.g. severe atypia, nuclear pleomorphism, tumor cell necrosis, abnormal mitoses, tissue invasiveness) and for which the transformed cell type has not been specifically identified. [from NCI]

MedGen UID:
14297
Concept ID:
C0006826
Neoplastic Process
3.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
4.

Neurofibromas

The presence of multiple cutaneous neurofibromas. [from HPO]

MedGen UID:
504707
Concept ID:
CN001002
Finding
5.

Dystonia 10

Familial paroxysmal kinesigenic dyskinesia (referred to as familial PKD in this entry) is characterized by unilateral or bilateral involuntary movements precipitated by other sudden movements such as standing up from a sitting position, being startled, or changes in velocity; attacks include combinations of dystonia, choreoathetosis, and ballism, are sometimes preceded by an aura, and do not involve loss of consciousness. Attacks can be as frequent as 100 per day to as few as one per month. Attacks are usually a few seconds to five minutes in duration but can last several hours. Age of onset, severity and combinations of symptoms vary. Age of onset, typically in childhood and adolescence, ranges from four months to 57 years. The phenotype of PKD can include benign familial infantile epilepsy (BFIE), infantile convulsions and choreoathetosis (ICCA), hemiplegic migraine, migraine with and without aura, and episodic ataxia. Familial PKD is predominantly seen in males. [from GeneReviews]

MedGen UID:
358268
Concept ID:
C1868682
Disease or Syndrome
6.

Error occurred: cannot get document summary

ID:
272128

7.

Sporadic

MedGen UID:
64410
Concept ID:
C0205422
8.

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
9.

Neoplastic Cell Transformation

A pathologic process that involves the transformation of normal cells to a neoplastic state and resulting in polyclonal or monoclonal neoplastic cell proliferation. [from NCI]

MedGen UID:
3302
Concept ID:
C0007621
Neoplastic Process
10.

Epithelial neoplasm

neoplasm of epithelial origin, ranging from benign (adenoma and papilloma) to malignant (carcinoma). [from CRISP]

MedGen UID:
277963
Concept ID:
C1368683
Neoplastic Process
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.

Cancer, Embryonal

MedGen UID:
199639
Concept ID:
C0751364
Neoplastic Process
13.

Genetic Diseases, Inborn

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
14.

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
15.

Ependymoastrocytoma

MedGen UID:
155907
Concept ID:
C0751677
Neoplastic Process
16.

Polar spongioblastoma

A lesion characterized by the presence of neoplastic neuroepithelial cells with palisading nuclei. This lesion implies a morphologic growth pattern and it is not considered a clinicopathological entity. [from NCI]

MedGen UID:
154309
Concept ID:
C0555199
Neoplastic Process
17.

Mixed oligoastrocytoma

MedGen UID:
154285
Concept ID:
C0547065
Neoplastic Process
18.

Neurodegeneration

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
19.

Astroblastoma

A rare glial neoplasm more commonly found in young adults. It is characterized by tumor cells with characteristics suggestive of an astrocytic origin (positive for GFAP), arranged perivascularly. The cells have broad, non-tapering processes radiating towards a central blood vessel. The biologic behavior of astroblastomas is variable, so no WHO grade has been established, yet. (Adapted from WHO.) [from NCI]

MedGen UID:
90811
Concept ID:
C0334587
Neoplastic Process
20.

Protoplasmic astrocytoma

A rare variant of diffuse astrocytoma. It is predominantly composed of neoplastic astrocytes showing a small cell body with few, flaccid processes with a low content of glial filaments and scant GFAP expression. This lesion is not well defined and is considered by some authors as an occasional histopathological feature rather than a reproducibly identifiable variant. When occurring in children, this neoplasm may be difficult to separate from pilocytic juvenile astrocytoma. (Adapted from WHO) [from NCI]

MedGen UID:
87268
Concept ID:
C0334580
Neoplastic Process

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