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Items: 18

1.

Double cortex

MedGen UID:
419180
Concept ID:
C2931857
Disease or Syndrome
2.

Recurrence (disease attribute)

The return of a sign, symptom, or disease after a remission. [from MeSH]

MedGen UID:
416712
Concept ID:
C2825055
Pathologic Function
3.

Lissencephaly, X-linked

DCX-related disorders include the neuronal migration disorders classic lissencephaly (formerly also known as lissencephaly type 1), usually in males; and subcortical band heterotopia (SBH, also called double cortex), primarily in females. Males with classic DCX-related lissencephaly typically have severe and global developmental delay, infantile-onset seizures (infantile spasms, West syndrome, focal and generalized seizures), and severe intellectual disability. In individuals with SBH, cognitive abilities range from normal to learning disabilities and/or severe intellectual disability. The majority of individuals with SBH present with focal or generalized seizures. Behavior problems may also be observed. In DCX-related lissencephaly and SBH the severity of the clinical manifestation correlates with the degree of the underlying brain malformation. [from GeneReviews]

MedGen UID:
336286
Concept ID:
C1848199
Disease or Syndrome
4.

Lissencephaly

A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure. [from HPO]

MedGen UID:
78604
Concept ID:
C0266463
Congenital Abnormality; Finding
5.

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_NCI-GLOSS]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
6.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
7.

Lissencephaly

A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure. [from HPO]

MedGen UID:
504808
Concept ID:
CN001227
Finding
8.

Mosaicism

The presence ono more than one genetically distinct cell line in germ and/or somatic cells. [from NCI]

MedGen UID:
452472
Concept ID:
C0392053
Cell or Molecular Dysfunction
9.

Sporadic

Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected. [from HPO]

MedGen UID:
342827
Concept ID:
C1853237
Finding
10.

Subcortical band heterotopia

A developmental brain abnormality characterized by abnormal migration of neurons during cortical development. [from NCI_NICHD]

MedGen UID:
336288
Concept ID:
C1848201
Disease or Syndrome
11.

Severe

Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
104640
Concept ID:
C0205082
Qualitative Concept
12.

X-linked inheritance

A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. [from HPO]

MedGen UID:
66838
Concept ID:
C0241764
Genetic Function
13.

Genetic predisposition

A latent susceptibility to disease at the genetic level, which may be activated under certain conditions. [from MeSH]

MedGen UID:
137259
Concept ID:
C0314657
Organism Attribute
14.

Disease

Any abnormal condition of the body or mind that causes discomfort, dysfunction, or distress to the person affected or those in contact with the person. The term is often used broadly to include injuries, disabilities, syndromes, symptoms, deviant behaviors, and atypical variations of structure and function. [from NCI]

MedGen UID:
4347
Concept ID:
C0012634
Disease or Syndrome
15.

Chromosomal anomaly

irregularity in the number or structure of chromosomes that may alter the course of development. [from CRISP]

MedGen UID:
954
Concept ID:
C0008625
Cell or Molecular Dysfunction
16.

Lissencephaly 3

MedGen UID:
369910
Concept ID:
C1969029
Disease or Syndrome
17.

Pachygyria with mental retardation and seizures

This autosomal recessive neurodevelopmental disorder is characterized by pachygyria, mental retardation, seizures, and diffuse localization of arachnoid cysts. It most likely represents a neuronal migration disorder within the lissencephaly spectrum (summary by Guzel et al., 2007). [from OMIM]

MedGen UID:
333107
Concept ID:
C1838491
Disease or Syndrome
18.

Uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis

MedGen UID:
348132
Concept ID:
C1860549
Disease or Syndrome
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