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Items: 1 to 20 of 22

1.

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; Genetic Function
2.

Biotin

A nutrient in the vitamin B complex that the body needs in small amounts to function and stay healthy. Biotin helps some enzymes break down substances in the body for energy and helps tissues develop. It is found in yeast, whole milk, egg yolks, and organ meats. Biotin is water-soluble (can dissolve in water) and must be taken in every day. Not enough biotin can cause skin, nerve, and eye disorders. Biotin is present in larger amounts in some cancer tissue than in normal tissue. Attaching biotin to substances used to treat some types of cancer helps them find cancer cells. [from NCI]

MedGen UID:
2646
Concept ID:
C0005575
Organic Chemical; Pharmacologic Substance; Vitamin
3.

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
4.

Clinical Response

An evaluation of the clinical response of the disease to the therapy. [from NCI]

MedGen UID:
887432
Concept ID:
C4055223
Finding
5.

Autosomal Recessive Disorder

An inherited disorder manifested only when two copies of a mutated gene are present. [from NCI]

MedGen UID:
859582
Concept ID:
C3899988
Disease or Syndrome
6.

Founder Mutation

A gene mutation observed with high frequency in a group that is or was geographically or culturally isolated, in which one or more of the ancestors was a carrier of the mutant gene. This phenomenon is often called a founder effect. [from NCI]

MedGen UID:
457661
Concept ID:
C2985435
Cell or Molecular Dysfunction
7.

Neonatal onset

Onset of signs or symptoms of disease within the first 28 days of life. [from HPO]

MedGen UID:
344421
Concept ID:
C1855106
Finding
8.

Symptoms

Subjective evidence of disease perceived by the patient. [from NCI]

MedGen UID:
306142
Concept ID:
C1457887
Sign or Symptom
9.

Autosomal recessive inheritance

A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [from HPO]

MedGen UID:
141025
Concept ID:
C0441748
Genetic Function; Intellectual Product
10.

Onset

The age group in which disease manifestations appear. [from HPO]

MedGen UID:
64519
Concept ID:
C0206132
Quantitative Concept
11.

Amino acid

One of several molecules that join together to form proteins. There are 20 common amino acids found in proteins. [from NCI]

MedGen UID:
250
Concept ID:
C0002520
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
12.

Medebiotin

MedGen UID:
304280
Concept ID:
C1449820
Organic Chemical; Pharmacologic Substance; Vitamin
13.

Rombellin

MedGen UID:
304279
Concept ID:
C1449819
Organic Chemical; Pharmacologic Substance; Vitamin
14.

Gabunat

MedGen UID:
304278
Concept ID:
C1449817
Organic Chemical; Pharmacologic Substance; Vitamin
15.

Biokur

MedGen UID:
260618
Concept ID:
C1449813
Organic Chemical; Pharmacologic Substance; Vitamin
16.

Biodermatin

MedGen UID:
260617
Concept ID:
C1449812
Organic Chemical; Pharmacologic Substance; Vitamin
17.

Biotin-ratiopharm

MedGen UID:
259594
Concept ID:
C1449821
Organic Chemical; Pharmacologic Substance; Vitamin
18.

medobiotin

MedGen UID:
258566
Concept ID:
C1449818
Organic Chemical; Pharmacologic Substance; Vitamin
19.

Deacura

MedGen UID:
258565
Concept ID:
C1449816
Organic Chemical; Pharmacologic Substance; Vitamin
20.

Imidazole

MedGen UID:
7016
Concept ID:
C0020923
Organic Chemical; Pharmacologic Substance
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