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Results: 6

1.

Down-regulation

A negative regulatory effect on physiological processes at the molecular, cellular, or systemic level. At the molecular level, the major regulatory sites include membrane receptors, genes (GENE EXPRESSION REGULATION), mRNAs (RNA, MESSENGER), and proteins. [from MeSH]

MedGen UID:
4386
Concept ID:
C0013081
Molecular Function
2.

ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2

Robinow syndrome is a skeletal dysplasia characterized by distinctive facial features, including midface hypoplasia, hypertelorism, a short nose, and a broad mouth, known collectively as 'fetal facies.' Additional features include mesomelic dwarfism, macrocephaly, gingival hypertrophy, dental malocclusion, genital hypoplasia, and brachydactyly (summary by Bunn et al., 2015). Additionally, increased skull bone density and appendicular osteosclerosis are present in patients with DRS2 (White et al., 2015; Bunn et al., 2015). For a discussion of genetic heterogeneity of Robinow syndrome, see RRS (268310). [from OMIM]

MedGen UID:
833636
Concept ID:
CN229715
Disease or Syndrome
3.

Related

MedGen UID:
619805
Concept ID:
C0445223
Finding
4.

Ability to balance

The maintenance of a stable, upright body position. [from NCI]

MedGen UID:
154340
Concept ID:
C0560184
Finding
5.

Ganglioside Hydrolysis Activator Proteins

MedGen UID:
30710
Concept ID:
C0061097
Pharmacologic Substance
6.

Membranous balance

The ideal physiologic state of harmonious equilibrium in the tension of the dura mater of the brain and spinal cord. [from AOT]

MedGen UID:
737146
Concept ID:
C1563241
Finding

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