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Results: 10

1.

Megalencephaly cutis marmorata telangiectatica congenita

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is characterized by a spectrum of anomalies including primary megalencephaly, prenatal overgrowth, brain and body asymmetry, cutaneous vascular malformations, digital anomalies consisting of syndactyly with or without postaxial polydactyly, connective tissue dysplasia involving the skin, subcutaneous tissue, and joints, and cortical brain malformations, most distinctively polymicrogyria (summary by Mirzaa et al., 2012). This disorder is also known as the macrocephaly-capillary malformation (MCM) syndrome (Conway et al., 2007). Mirzaa et al. (2012) suggested use of the term MCAP rather than MCM to reflect the very large brain size, rather than simply large head size, that characterizes this syndrome, and the importance and high frequency of perisylvian polymicrogyria. [from OMIM]

MedGen UID:
355421
Concept ID:
C1865285
Disease or Syndrome
2.

Phosphorylation

A process in which a phosphate group is added to a molecule, such as a sugar or a protein. [from NCI]

MedGen UID:
10742
Concept ID:
C0031715
Molecular Function
3.

Glycerin

A trihydroxy sugar alcohol that is an intermediate in carbohydrate and lipid metabolism. It is used as a solvent, emollient, pharmaceutical agent, and sweetening agent. [from MeSH]

MedGen UID:
5335
Concept ID:
C0017861
Pharmacologic Substance
4.

Indicated

MedGen UID:
731837
Concept ID:
C1444656
Finding
5.

Detected

MedGen UID:
617726
Concept ID:
C0442726
Finding
6.

Biochemical Processes

Chemical reactions or functions, enzymatic activities, and metabolic pathways of living things. [from MeSH]

MedGen UID:
267723
Concept ID:
C1511130
Molecular Function
7.

Surface-Active Agents

Any chemical that reduces the surface tension of the medium in which it is dissolved or lowers the interfacial tension between two immiscible phases. [from NCI]

MedGen UID:
52585
Concept ID:
C0038888
Pharmacologic Substance
8.

Tensides

MedGen UID:
23265
Concept ID:
C0076097
Pharmacologic Substance
9.

Synthetic Detergent

MedGen UID:
21049
Concept ID:
C0039081
Pharmacologic Substance
10.

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

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