Format
Items per page

Send to:

Choose Destination

Search results

Items: 1 to 20 of 22

  • The following term was not found in MeSH: Circus.
1.

Williams Syndrome

A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy.

Year introduced: 1996

2.

Tracheobronchomalacia

A congenital or acquired condition of underdeveloped or degeneration of CARTILAGE in the TRACHEA and the BRONCHI. This results in a floppy non-rigid airway making patency difficult to maintain.

Year introduced: 2009

3.
4.

Facies

The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or the mongoloid facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed)

Year introduced: 1996

5.

Crown-Rump Length

In utero measurement corresponding to the sitting height (crown to rump) of the fetus. Length is considered a more accurate criterion of the age of the fetus than is the weight. The average crown-rump length of the fetus at term is 36 cm. (From Williams Obstetrics, 18th ed, p91)

Year introduced: 1995

6.

Elastin

Year introduced: 1966(1963)

7.
8.

Chromosome 7, monosomy [Supplementary Concept]

Conditions associated with loss of segments of chromosome 7, such as WILLIAMS SYNDROME, resulting in growth abnormalities, intellectual disability, and immunologic disorders.

Date introduced: August 25, 2010

9.

Zori Stalker Williams syndrome [Supplementary Concept]

Familial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails

Date introduced: August 25, 2010

10.

Hairy elbows [Supplementary Concept]

Date introduced: August 25, 2010

11.

BAZ1B protein, Xenopus [Supplementary Concept]

WSTF - Williams syndrome transcription factor; expressed during Xenopus laevis embryogenesis; amino acid sequence in first source

Date introduced: June 14, 2006

12.

Mlxipl protein, mouse [Supplementary Concept]

RefSeq NM_021455

Date introduced: December 8, 2005

13.

LAT2 protein, mouse [Supplementary Concept]

RefSeq NM_022040

Date introduced: August 6, 2004

14.

Gtf2ird1 protein, mouse [Supplementary Concept]

involved in skeletal muscle gene expression, deleted in patients with Williams syndrome; a retinoblastoma-protein-associated protein; MusTRD1 - muscle TFII-I repeat domain-containing protein 1; similar to TFII-I; RefSeq NM_020331

Date introduced: August 6, 2004

15.

Baz1b protein, mouse [Supplementary Concept]

RefSeq NM_011714

Date introduced: August 6, 2004

16.

BUD23 protein, human [Supplementary Concept]

RefSeq NM_001202560

Date introduced: June 5, 2002

17.

NSUN5 protein, human [Supplementary Concept]

RefSeq NM_148956

Date introduced: June 5, 2002

18.

Mlxipl protein, rat [Supplementary Concept]

RefSeq NM_133552

Date introduced: January 4, 2002

19.

LAT2 protein, human [Supplementary Concept]

RefSeq NM_032463

Date introduced: January 31, 2001

20.

BAZ1B protein, human [Supplementary Concept]

RefSeq NM_032408

Date introduced: January 28, 1999

Format
Items per page

Send to:

Choose Destination

Supplemental Content

Loading ...
Support Center