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Results: 15

1.

Situs Inversus

A congenital abnormality in which organs in the THORAX and the ABDOMEN are opposite to their normal positions (situs solitus) due to lateral transposition. Normally the STOMACH and SPLEEN are on the left, LIVER on the right, the three-lobed right lung is on the right, and the two-lobed left lung on the left. Situs inversus has a familial pattern and has been associated with a number of genes related to microtubule-associated proteins.

2.

Levocardia

Congenital abnormalities in which the HEART is in the normal position (levocardia) in the left side of the chest but some or all of the THORAX or ABDOMEN viscera are transposed laterally (SITUS INVERSUS). It is also known as situs inversus with levocardia, or isolated levocardia. This condition is often associated with severe heart defects and splenic abnormalities such as asplenia or polysplenia.

Year introduced: 1991(1975)

3.

Kartagener Syndrome

An autosomal recessive disorder characterized by a triad of DEXTROCARDIA; INFERTILITY; and SINUSITIS. The syndrome is caused by mutations of DYNEIN genes encoding motility proteins which are components of sperm tails, and CILIA in the respiratory and the reproductive tracts.

Year introduced: 2002 (1963)

4.

Ciliary Dyskinesia, Primary, 13 [Supplementary Concept]

mutation in LRRC50

Date introduced: November 5, 2012

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Ciliary Dyskinesia, Primary, 7 [Supplementary Concept]

mutations in DNAH11

Date introduced: November 5, 2012

7.

Ciliary Dyskinesia, Primary, 8 [Supplementary Concept]

aka CILD8

Date introduced: November 5, 2012

8.

Ciliary Dyskinesia, Primary, 9 [Supplementary Concept]

mutations in DNAI2; aka CILD9

Date introduced: November 5, 2012

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Situs inversus totalis with cystic dysplasia of kidneys and pancreas [Supplementary Concept]

Situs inversus, cystic dysplastic kidney and pancreas, bowed lower limbs, severe intrauterine growth retardation, and oligohydramnios

Date introduced: August 25, 2010

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