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1.

Fragile X syndrome

FMR1-related disorders include fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), and FMR1-related primary ovarian insufficiency (POI). Fragile X syndrome occurs in individuals with an FMR1 full mutation or other loss-of-function variant and is nearly always characterized by moderate intellectual disability in affected males and mild intellectual disability in affected females. Because FMR1 pathogenic variants are complex alterations involving non-classic gene-disrupting alterations (trinucleotide repeat expansion) and abnormal gene methylation, affected individuals occasionally have an atypical presentation with an IQ above 70, the traditional demarcation denoting intellectual disability (previously referred to as mental retardation). Males with an FMR1 full mutation accompanied by aberrant methylation may have a characteristic appearance (large head, long face, prominent forehead and chin, protruding ears), connective tissue findings (joint laxity), and large testes after puberty. Behavioral abnormalities, sometimes including autism spectrum disorder, are common. FXTAS occurs in males (and some females) who have an FMR1 premutation and is characterized by late-onset, progressive cerebellar ataxia and intention tremor. FMR1-related POI (age at cessation of menses <40 years) occurs in approximately 20% of females who have an FMR1 premutation. [from GTR]

MedGen UID:
8912
Concept ID:
C0016667
Disease or Syndrome
2.

DNA damage

Drug-, radiation-induced, or spontaneous injuries to DNA that introduce deviations from its normal double-helical conformation. These changes include structural distortions that interfere with replication and transcription, as well as point mutations that disrupt base pairs and exert damaging effects on future generations through changes in DNA sequence. If the damage is minor, it can often be repaired (DNA repair); extensive damage can induce apoptosis. [from NCI]

MedGen UID:
3880
Concept ID:
C0012860
Cell or Molecular Dysfunction
3.

Fragility, Chromosome

Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations. [from MeSH]

MedGen UID:
3074
Concept ID:
C0008629
Cell or Molecular Dysfunction
4.

Fragile X syndrome

Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features. [from ORDO]

MedGen UID:
891648
Concept ID:
CN206445
Disease or Syndrome
5.

Fragility

MedGen UID:
549780
Concept ID:
C0302113
Cell or Molecular Dysfunction
6.

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:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
7.

Frequency

MedGen UID:
91210
Concept ID:
C0376249
Temporal Concept
8.

Aphidicolin

An antiviral antibiotic produced by Cephalosporium aphidicola and other fungi. It inhibits the growth of eukaryotic cells and certain animal viruses by selectively inhibiting the cellular replication of DNA polymerase II or the viral-induced DNA polymerases. The drug may be useful for controlling excessive cell proliferation in patients with cancer, psoriasis or other dermatitis with little or no adverse effect upon non-multiplying cells. [from MeSH]

MedGen UID:
88346
Concept ID:
C0085171
Organic Chemical; Pharmacologic Substance
9.

Syndrome

A characteristic symptom complex. [from MeSH]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
10.

Process

MedGen UID:
923307
Concept ID:
C1951340
Pharmacologic Substance
11.

SERPIN PEPTIDASE INHIBITOR, CLADE A, MEMBER 2, PSEUDOGENE

MedGen UID:
854820
Concept ID:
C3888213
Finding
12.

Absence

MedGen UID:
739164
Concept ID:
C1689985
Anatomical Abnormality
13.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
14.

Peroxisome Biogenesis Disorder, Complementation Group G

MedGen UID:
355154
Concept ID:
C1864172
Disease or Syndrome
15.

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
16.

FRAXA

MedGen UID:
199597
Concept ID:
C0751156
Disease or Syndrome
17.

Disability

Any physical or mental impairment that interferes with an individual's ability to perform desired activities. [from NCI]

MedGen UID:
66657
Concept ID:
C0231170
Finding
18.

Intellectual functioning disability

A developmental disorder characterized by less than average intelligence and significant limitations in adaptive behavior with onset before the age of 18. [from NCI]

MedGen UID:
7544
Concept ID:
C0025362
Mental or Behavioral Dysfunction
19.

DNA Breaks

Interruptions in the sugar-phosphate backbone of DNA. [from MeSH]

MedGen UID:
354581
Concept ID:
C1721104
Molecular Function
20.

Chromosomal Instability

The instability of chromosomes is attributed to the continuous formation of novel chromosome mutations. These mutations form at an elevated rate in comparison to the normal cell population. The increased frequency of structural chromosome aberrations can be caused by an abnormally high incidence of DNA double-strand breaks and translocations. Screening for chromosomal breakage and rearrangement is used as a diagnostic tool in Fanconi anemia. [from NCI]

MedGen UID:
263436
Concept ID:
C1257806
Cell or Molecular Dysfunction
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