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Results: 1 to 20 of 49

1.

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
2.

Epileptic encephalopathy

MedGen UID:
500863
Concept ID:
CN176791
Finding
3.

SUPERNUMERARY DER(22)t(8

Carriers of the balanced constitutional translocation t(8;22)(q24.13;q11.2) are phenotypically normal but are at risk of having progeny with supernumerary der(22)t(8;22) syndrome as a result of malsegregation of the der(22). Although the supernumerary der(22)t(8;22) phenotype is variable between individuals, it tends to include ear and extremity abnormalities in addition to mild mental retardation (summary by Sheridan et al., 2010). [from OMIM]

MedGen UID:
462316
Concept ID:
C3150966
Disease or Syndrome
4.

Error occurred: cannot get document summary

ID:
449769

5.

Encephalopathy

MedGen UID:
368408
Concept ID:
C1963101
Finding
6.

Emanuel syndrome

Emanuel syndrome is characterized by severe intellectual disability, microcephaly, failure to thrive, preauricular tag or sinus, ear anomalies, cleft or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects, and genital abnormalities in males. [from GeneReviews]

MedGen UID:
323030
Concept ID:
C1836929
Disease or Syndrome
7.

Severe myoclonic epilepsy in infancy

SCN1A-related seizure disorders encompass a spectrum that ranges from simple febrile seizures (FS) and generalized epilepsy with febrile seizures plus (GEFS+) at the mild end to Dravet syndrome and intractable childhood epilepsy with generalized tonic-clonic seizures (ICE-GTC) at the severe end. Phenotypes with intractable seizures including Dravet syndrome (also known as severe myoclonic epilepsy in infancy [SMEI] or polymorphic myoclonic epilepsy in infancy [PMEI]) are usually associated with progressive dementia. Less commonly observed phenotypes include myoclonic-astatic epilepsy (MAE or Doose syndrome), Lennox-Gastaut syndrome (LGS), infantile spasms, and vaccine-related encephalopathy and seizures. The phenotype of SCN1A-related seizure disorders can vary even within the same family. [from GeneReviews]

MedGen UID:
148243
Concept ID:
C0751122
Disease or Syndrome
8.

Encephalopathy

Degenerative diseases of the brain. [from PSY]

MedGen UID:
39314
Concept ID:
C0085584
Disease or Syndrome
9.

Female

A person who belongs to the sex that normally produces ova. The term is used to indicate biological sex distinctions, or cultural gender role distinctions, or both. (NCI) [from NCI]

MedGen UID:
8807
Concept ID:
C0015780
Finding
10.

Diagnosis

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

MedGen UID:
8354
Concept ID:
C0011900
Finding
11.

Fever

Abnormally high body temperature. This may be caused as part of treatment, by an infection, or by exposure to heat. [from NCI]

MedGen UID:
5169
Concept ID:
C0015967
Finding
12.

Seizure Disorders

A disorder characterized by recurrent seizures [from SNOMED CT]

MedGen UID:
4506
Concept ID:
C0014544
Disease or Syndrome
13.

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
14.

Error occurred: cannot get document summary

ID:
775793

15.

Seizure

MedGen UID:
506957
Concept ID:
CN178372
Disease or Syndrome
16.

Seizures

MedGen UID:
409523
Concept ID:
C1959629
Finding
17.

History of previous events

The aggregate of past events; the continuum of events occurring in succession leading from the past to the present; a record or narrative description of past events. [from NCI]

MedGen UID:
389153
Concept ID:
C2004062
Finding
18.

Motor deterioration

MedGen UID:
356495
Concept ID:
C1866284
Finding
19.

Dysphagia

MedGen UID:
342867
Concept ID:
C1853381
Finding
20.

Infantile onset

MedGen UID:
336456
Concept ID:
C1848924
Finding

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