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Items: 1 to 20 of 54

1.

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
2.

Macrocephaly

MedGen UID:
909477
Concept ID:
C4083076
Finding
3.

Macrocephaly

MedGen UID:
851886
Concept ID:
CN233365
Finding
4.

Intellectual disability

Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28) [from MeSH]

MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
5.

Macrocephaly

Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014). [from OMIM]

MedGen UID:
745757
Concept ID:
C2243051
Disease or Syndrome; Finding
6.

X-linked recessive inheritance

A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. [from HPO]

MedGen UID:
375779
Concept ID:
C1845977
Finding
7.

Intellectual disability

Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70. [from HPO]

MedGen UID:
334384
Concept ID:
C1843367
Finding
8.

Megalencephaly

Enlargement of all or parts of the cerebral hemispheres. [from HPO]

MedGen UID:
65141
Concept ID:
C0221355
Congenital Abnormality; Finding
9.

Intellectual functioning disability

Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70. [from HPO]

MedGen UID:
7544
Concept ID:
C0025362
Mental or Behavioral Dysfunction
10.

Frameshift Mutation function

A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously. [from MeSH]

MedGen UID:
86908
Concept ID:
C0079380
Cell or Molecular Dysfunction
11.

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
12.

Respiratory tract infection

Invasion of the host RESPIRATORY SYSTEM by microorganisms, usually leading to pathological processes or diseases. [from MeSH]

MedGen UID:
11199
Concept ID:
C0035243
Disease or Syndrome
13.

Episodic

Applied to a sign, symptom, or other manifestation that occurs at least twice and potentially multiple times but separated by an interval in whichthe sign, symptom, or manifestation is not present. [from HPO]

MedGen UID:
910017
Concept ID:
CN240220
Organism Attribute
14.

Infections

MedGen UID:
678472
Concept ID:
C0851162
Disease or Syndrome
15.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
16.

Autoimmune interstitial lung, joint, and kidney disease

Autoimmune interstitial lung, joint, and kidney disease is an autosomal dominant systemic autoimmune disorder characterized by interstitial lung disease, inflammatory arthritis, and immune complex-mediated renal disease. Laboratory studies show high-titer autoantibodies. Symptoms appear in the first 2 decades of life, but there is incomplete penetrance (summary by Watkin et al., 2015). [from OMIM]

MedGen UID:
452265
Concept ID:
C0231330
Temporal Concept
17.

Mode of inheritance

The manner in which a particular genetic trait or disorder is passed from one generation to the next. [from NCI]

MedGen UID:
353811
Concept ID:
C1708511
Genetic Function
18.

Oral-facial-digital syndrome

Oral-facial-digital syndrome type I (OFD1) is usually male lethal during gestation and predominantly affects females. OFD1 is characterized by the following features: Oral (lobulated tongue, tongue nodules, cleft of the hard or soft palate, accessory gingival frenulae, hypodontia, and other dental abnormalities). Facial (widely spaced eyes or telecanthus, hypoplasia of the alae nasi, median cleft or pseudocleft upper lip, micrognathia). Digital (brachydactyly, syndactyly, clinodactyly of the fifth finger; duplicated hallux [great toe]). Kidney (polycystic kidney disease). Brain (e.g., intracerebral cysts, agenesis of the corpus callosum, cerebellar agenesis with or without Dandy-Walker malformation). Intellectual disability (in ~50% of individuals). [from GeneReviews]

MedGen UID:
307142
Concept ID:
C1510460
Disease or Syndrome
19.

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
20.

Intellectual disability, severe

Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34. [from HPO]

MedGen UID:
48638
Concept ID:
C0036857
Finding; Mental or Behavioral Dysfunction
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