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Items: 1 to 20 of 54

1.

Alpha-methylacyl-CoA racemase deficiency disorder

A rare disorder caused by mutation in the AMACR gene. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy. [from NCI]

MedGen UID:
482058
Concept ID:
C3280428
Disease or Syndrome
2.

Unspecified encephalopathy

MedGen UID:
39314
Concept ID:
C0085584
Disease or Syndrome
3.

Cranioosteoarthropathy

MedGen UID:
394824
Concept ID:
C2678439
Disease or Syndrome
4.

Encephalopathy

MedGen UID:
368408
Concept ID:
C1963101
Finding
5.

Alpha-methylacyl-CoA racemase deficiency

AMACR deficiency is a rare autosomal recessive peroxisomal disorder characterized by adult onset of variable neurodegenerative symptoms affecting the central and peripheral nervous systems. Features may include seizures, visual failure, sensorimotor neuropathy, spasticity, migraine, and white matter hyperintensities on brain imaging. Serum pristanic acid and C27 bile acid intermediates are increased (summary by Smith et al., 2010). [from OMIM]

MedGen UID:
348911
Concept ID:
C1858325
6.

variable phenotype

MedGen UID:
324814
Concept ID:
C1837514
Finding
7.

Mental deterioration

MedGen UID:
66713
Concept ID:
C0234985
Mental or Behavioral Dysfunction
8.

Point mutation

A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair. [from MeSH]

MedGen UID:
56498
Concept ID:
C0162735
Cell or Molecular Dysfunction
9.

Seizures

MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
10.

Congenital bile acid synthesis defect type 4

Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease. [from ORDO]

MedGen UID:
1435292
Concept ID:
CN205778
Congenital Abnormality
11.

Seizures

MedGen UID:
851405
Concept ID:
CN232558
Disease or Syndrome
12.

Disorder of fatty acid metabolism

MedGen UID:
468968
Concept ID:
C0268634
Disease or Syndrome
13.

Fatty Acid Metabolism Pathway

Fatty Acid Metabolism involves cellular biotransforming chemical modifications of fatty acids by enzymatic activity. [from NCI]

MedGen UID:
154548
Concept ID:
C0596563
Molecular Function
14.

Rare Disorder

A disease that affects fewer than 200,000 people in the United States. [from NCI]

MedGen UID:
146261
Concept ID:
C0678236
Disease or Syndrome
15.

Disorder of peroxisomal function

A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, mental retardation, facial abnormalities, hepatomegaly, and hypotonia. [from NCI]

MedGen UID:
129185
Concept ID:
C0282528
Disease or Syndrome
16.

Neurocognitive disorder

A disorder characterised by a decline primarily in intellectual function due to disease of the brain caused by a variety of acquired conditions such as cerebrovascular disease, Alzheimer's disease, infections, adverse drug reactions and trauma. [from SNOMEDCT_US]

MedGen UID:
873945
Concept ID:
C4041080
Mental or Behavioral Dysfunction
17.

Recurrence

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

MedGen UID:
416712
Concept ID:
C2825055
Pathologic Function
18.

Inborn genetic diseases

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
19.

Brain Diseases, Metabolic, Inborn

Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero. [from MeSH]

MedGen UID:
156005
Concept ID:
C0752109
Disease or Syndrome
20.

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
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