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Items: 1 to 20 of 34

1.

Disinhibition

A lack of restraint manifested in several ways, including disregard for social conventions, impulsivity, and poor risk assessment. [from HPO]

MedGen UID:
140859
Concept ID:
C0424296
Mental or Behavioral Dysfunction
2.

Sclerosis

A pathological hardening or thickening of tissue, especially that of the interstitial substance. [from NCI]

MedGen UID:
48587
Concept ID:
C0036429
Pathologic Function
3.

Tuberous sclerosis syndrome

Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, facial angiofibromas, shagreen patches, cephalic plaques, ungual fibromas); brain (cortical dysplasias, subependymal nodules and subependymal giant cell astrocytomas [SEGAs], seizures, intellectual disability/developmental delay, psychiatric illness); kidney (angiomyolipomas, cysts, renal cell carcinomas); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM]). CNS tumors are the leading cause of morbidity and mortality; renal disease is the second leading cause of early death. [from GTR]

MedGen UID:
22518
Concept ID:
C0041341
Neoplastic Process
4.

Seizures

Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or "seizure disorder." [from MeSH]

MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
5.

Seizure Disorders

A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions. [from NCI]

MedGen UID:
4506
Concept ID:
C0014544
Disease or Syndrome
6.

Process

MedGen UID:
923307
Concept ID:
C1951340
Pharmacologic Substance
7.

Seizures

MedGen UID:
851405
Concept ID:
CN232558
Disease or Syndrome
8.

Tuberous sclerosis 1

Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, facial angiofibromas, shagreen patches, cephalic plaques, ungual fibromas); brain (cortical dysplasias, subependymal nodules and subependymal giant cell astrocytomas [SEGAs], seizures, intellectual disability/developmental delay, psychiatric illness); kidney (angiomyolipomas, cysts, renal cell carcinomas); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM]). CNS tumors are the leading cause of morbidity and mortality; renal disease is the second leading cause of early death. [from GTR]

MedGen UID:
344288
Concept ID:
C1854465
Disease or Syndrome
9.

Inhibition

MedGen UID:
5809
Concept ID:
C0021469
Molecular Function
10.

Malformations of Cortical Development, Group I

Cortical malformations secondary to abnormal neuronal and glial CELL PROLIFERATION or APOPTOSIS in NEUROGENESIS. This group includes congenital MICROCEPHALIES; MICROLISSENCEPHALIES, megalencephalies, HEMIMEGALENCEPHALIES and cortical dysplasias with balloon cells. [from MeSH]

MedGen UID:
827134
Concept ID:
C3850040
Congenital Abnormality
11.

Malformation of cortical development

A group of neural cortical developmental malformations of diverse genetic causes. Clinical manifestations include epilepsy and developmental delays. [from NCI]

MedGen UID:
364975
Concept ID:
C1955869
Disease or Syndrome
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.

Abnormality of the nervous system

An abnormality of the nervous system that is present at birth or detected in the neonatal period. [from NCI]

MedGen UID:
105425
Concept ID:
C0497552
Congenital Abnormality
15.

Neurodegenerative disease

Hereditary and sporadic conditions which are characterized by progressive nervous system dysfunction. These disorders are often associated with atrophy of the affected central or peripheral nervous system structures. [from MeSH]

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

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
Disease or Syndrome
17.

Cranioschisis

A congenital abnormality characterized by the failure of the bones of the skull to close. [from NCI]

MedGen UID:
78563
Concept ID:
C0265541
Congenital Abnormality
18.

Auras

Subjective ictal phenomena that, in a given patient, may precede observable seizures; if alone, constitute a if alone, constitute a simple partial seizure. [from HPO]

MedGen UID:
65921
Concept ID:
C0236018
Finding
19.

Epilepsy, Cryptogenic

MedGen UID:
39409
Concept ID:
C0086237
Disease or Syndrome
20.

Unspecified encephalopathy

A functional and/or structural disorder of the brain caused by diseases (e.g. liver disease, kidney disease), medications, chemicals, and injuries. [from NCI]

MedGen UID:
39314
Concept ID:
C0085584
Disease or Syndrome
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