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Results: 15

1.

Phenylalanine

An essential aromatic amino acid that is a precursor of MELANIN; DOPAMINE; noradrenalin (NOREPINEPHRINE), and THYROXINE. [from MeSH]

MedGen UID:
10708
Concept ID:
C0031453
Pharmacologic Substance
2.

Agar

A complex sulfated polymer of galactose units, extracted from Gelidium cartilagineum, Gracilaria confervoides, and related red algae. It is used as a gel in the preparation of solid culture media for microorganisms, as a bulk laxative, in making emulsions, and as a supporting medium for immunodiffusion and immunoelectrophoresis. [from MeSH]

MedGen UID:
7923
Concept ID:
C0001771
Pharmacologic Substance
3.

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
Pharmacologic Substance
4.

SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME

MedGen UID:
762199
Concept ID:
C3542022
Disease or Syndrome
5.

Does not

MedGen UID:
721427
Concept ID:
C1299585
Finding
6.

Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis

SOFT syndrome is characterized by severely short long bones, peculiar facies associated with paucity of hair, and nail anomalies. Growth retardation is evident on prenatal ultrasound as early as the second trimester of pregnancy, and affected individuals reach a final stature consistent with a height age of 6 years to 8 years. Relative macrocephaly is present during early childhood but head circumference is markedly low by adulthood. Psychomotor development is normal. Facial dysmorphism includes a long, triangular face with prominent nose and small ears, and affected individuals have an unusual high-pitched voice. Clinodactyly, brachydactyly, and hypoplastic distal phalanges and fingernails are present in association with postpubertal sparse and short hair. Typical skeletal findings include short and thick long bones with mild irregular metaphyseal changes, short femoral necks, and hypoplastic pelvis and sacrum. All long bones of the hand are short, with major delay of carpal ossification and cone-shaped epiphyses. Vertebral body ossification is also delayed (summary by Sarig et al., 2012). [from OMIM]

MedGen UID:
472512
Concept ID:
CN143712
Disease or Syndrome
7.

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
8.

Radial aplasia-thrombocytopenia syndrome

Thrombocytopenia absent radius (TAR) syndrome is characterized by bilateral absence of the radii with the presence of both thumbs and thrombocytopenia (<50 platelets/nL) that is generally transient. Thrombocytopenia may be congenital or may develop within the first few weeks to months of life; in general, thrombocytopenic episodes decrease with age. Cow’s milk allergy is common and can be associated with exacerbation of thrombocytopenia. Other anomalies of the skeleton (upper and lower limbs, ribs, and vertebrae), heart, and genitourinary system (renal anomalies and agenesis of uterus, cervix, and upper part of the vagina) can occur. [from GeneReviews]

MedGen UID:
61235
Concept ID:
C0175703
Disease or Syndrome
9.

Magnesiocard

MedGen UID:
195605
Concept ID:
C0677518
Pharmacologic Substance
10.

Endorphenyl

MedGen UID:
155557
Concept ID:
C0751433
Pharmacologic Substance
11.

D-Glutamate

MedGen UID:
49306
Concept ID:
C0112117
Pharmacologic Substance
12.

N-Methylaspartate

An amino acid that, as the D-isomer, is the defining agonist for the NMDA receptor subtype of glutamate receptors (RECEPTORS, NMDA). [from MeSH]

MedGen UID:
36348
Concept ID:
C0079883
Pharmacologic Substance
13.

Glutamic Acid

One of twenty amino acids (molecules that join together to form proteins). Glutamic acid may help nerve cells send and receive information from other cells. It is being studied for its ability to decrease or prevent nerve damage caused by anticancer drugs. [from NCI]

MedGen UID:
29630
Concept ID:
C0061472
Pharmacologic Substance
14.

Mg-5-Longoral

MedGen UID:
9851
Concept ID:
C0024470
Pharmacologic Substance
15.

Essential amino acid

Amino acids that are not synthesized by the human body in amounts sufficient to carry out physiological functions. They are obtained from dietary foodstuffs. [from MeSH]

MedGen UID:
252
Concept ID:
C0002525
Pharmacologic Substance

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