Format
Items per page

Send to:

Choose Destination

Links from PubMed

Items: 19

1.

Ligand Binding

Ligand Binding is the tight and specific (high affinity) interaction between a small molecule (typically) and a macromolecule (usually protein) that ordinarily results in modification of its function, e.g., antigen-antibody binding, hormone- or neurotransmitter-receptor binding. [from NCI]

MedGen UID:
309303
Concept ID:
C1517880
Molecular Function
2.

Mutant

An altered form of an individual, organism, population, or genetic character that differs from the corresponding wild type due to one or more alterations (mutations). [from NCI]

MedGen UID:
109303
Concept ID:
C0596988
Cell or Molecular Dysfunction
3.

diaminobiotin

MedGen UID:
220052
Concept ID:
C1258995
Organic Chemical; Pharmacologic Substance
4.

Oxygen

An element with atomic symbol O, atomic number 8, and atomic weight [15.99903; 15.99977]. It is the most abundant element on earth and essential for respiration. [from MeSH]

MedGen UID:
45267
Concept ID:
C0030054
Element, Ion, or Isotope; Pharmacologic Substance
5.

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
6.

Position

The anatomical localization of the specified phenotypic abnormality. [from HPO]

MedGen UID:
866377
Concept ID:
C4019252
Functional Concept
7.

Energy

MedGen UID:
603300
Concept ID:
C0424589
Finding
8.

CHARGE association

CHARGE is a mnemonic for coloboma, heart defects, choanal atresia, retarded growth and development, genital abnormalities, and ear anomalies. CHARGE syndrome is characterized by the following: Unilateral or bilateral coloboma of the iris, retina-choroid, and/or disc with or without microphthalmos (80%-90% of individuals). Unilateral or bilateral choanal atresia or stenosis (50%-60%). Cranial nerve dysfunction resulting in hyposmia or anosmia, unilateral or bilateral facial palsy (40%), impaired hearing, and/or swallowing problems (70%-90%). Abnormal outer ears, ossicular malformations, Mondini defect of the cochlea and absent or hypoplastic semicircular canals (>90%). Cryptorchidism in males and hypogonadotropic hypogonadism in both males and females. Developmental delay. Cardiovascular malformations (75%-85%). Growth deficiency (70%-80%). Orofacial clefts (15%-20%). Tracheoesophageal fistula (15%-20%). Neonates with CHARGE syndrome often have multiple life-threatening medical conditions. Feeding difficulties are a major cause of morbidity in all age groups. [from GeneReviews]

MedGen UID:
75567
Concept ID:
C0265354
Congenital Abnormality; Disease or Syndrome
9.

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
10.

Medebiotin

MedGen UID:
304280
Concept ID:
C1449820
Organic Chemical; Pharmacologic Substance; Vitamin
11.

Rombellin

MedGen UID:
304279
Concept ID:
C1449819
Organic Chemical; Pharmacologic Substance; Vitamin
12.

Gabunat

MedGen UID:
304278
Concept ID:
C1449817
Organic Chemical; Pharmacologic Substance; Vitamin
13.

Biokur

MedGen UID:
260618
Concept ID:
C1449813
Organic Chemical; Pharmacologic Substance; Vitamin
14.

Biodermatin

MedGen UID:
260617
Concept ID:
C1449812
Organic Chemical; Pharmacologic Substance; Vitamin
15.

Biotin-ratiopharm

MedGen UID:
259594
Concept ID:
C1449821
Organic Chemical; Pharmacologic Substance; Vitamin
16.

medobiotin

MedGen UID:
258566
Concept ID:
C1449818
Organic Chemical; Pharmacologic Substance; Vitamin
17.

Deacura

MedGen UID:
258565
Concept ID:
C1449816
Organic Chemical; Pharmacologic Substance; Vitamin
18.

Imidazole

MedGen UID:
7016
Concept ID:
C0020923
Organic Chemical; Pharmacologic Substance
19.

Imidazoles

Compounds containing 1,3-diazole, a five membered aromatic ring containing two nitrogen atoms separated by one of the carbons. Chemically reduced ones include IMIDAZOLINES and IMIDAZOLIDINES. Distinguish from 1,2-diazole (PYRAZOLES). [from MeSH]

MedGen UID:
5743
Concept ID:
C0020924
Organic Chemical; Pharmacologic Substance
Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center