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Results: 7

1.

Protein-Protein Interaction

Temporary, non-covalent binding between protein molecules. Protein-protein interactions occur as a result of intermolecular physical forces and spatial complementation between domains or motifs. This interaction can be either homotypic or heterotypic and effect protein structure, conformation, and function. [from NCI]

MedGen UID:
209050
Concept ID:
C0872079
Molecular Function
2.

4p partial monosomy syndrome

Wolf-Hirschhorn syndrome (WHS) is characterized by typical craniofacial features in infancy consisting of 'Greek warrior helmet appearance' of the nose (the broad bridge of the nose continuing to the forehead), microcephaly, high forehead with prominent glabella, ocular hypertelorism, epicanthus, highly arched eyebrows, short philtrum, downturned mouth, micrognathia, and poorly formed ears with pits/tags. All affected individuals have prenatal-onset growth deficiency followed by postnatal growth retardation and hypotonia with muscle underdevelopment. Developmental delay/intellectual disability of variable degree is present in all. Seizures occur in 50% to 100% of children with WHS. Other findings include skeletal anomalies (60%-70%), congenital heart defects (~50%), hearing loss (mostly conductive) (>40%), urinary tract malformations (25%), and structural brain abnormalities (33%). [from GeneReviews]

MedGen UID:
408255
Concept ID:
C1956097
Disease or Syndrome
3.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
4.

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
5.

Position

An observation denoting the physical location of a person or thing based on a reference coordinate system.  [from HL7]

MedGen UID:
149196
Concept ID:
C0733755
6.

Protein binding

The process in which substances, either endogenous or exogenous, bind to proteins, peptides, enzymes, protein precursors, or allied compounds. Specific protein-binding measures are often used as assays in diagnostic assessments. [from MeSH]

MedGen UID:
18704
Concept ID:
C0033618
Molecular Function
7.

Pitt syndrome

Short stature, characteristic facies, microcephaly, telecanthus, prominent eyes, abnormal slanting of the palpebral fissures, hypoplastic maxilla, short philtrum, large mouth, and severe mental retardation. [from MCA/MR]

MedGen UID:
162910
Concept ID:
C0796117
Disease or Syndrome

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