Disease (Illness; Disease Concept Evolution)

A definite pathologic process with a characteristic set of signs and symptoms. It may affect the whole body or any of its parts, and its etiology, pathology, and prognosis may be known or unknown.


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Child of 8 yrs with the characteristic facial features of ATR-X syndrome. Note the upswept frontal hair line, hypertelorism, epicanthic folds, flat nasal bridge, small triangular upturned nose, tented upper lip, everted lower lip and hypotonic facies.

Smith–Fineman–Myers syndrome

LNS is inherited in an X-linked recessive fashion. LNS is due to mutations in the 'HPRT1' gene,[http://ghr.nlm.nih.gov/condition=leschnyhansyndrome Lesch-Nyhan syndrome.] Genetics Home Reference. Retrieved on 2007-05-24.[http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.section.298 Lesch-Nyhan syndrome.] NCBI Genes and disease. Retrieved on 2007-04-12 so named because it codes for the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT or HGPRT, ). This enzyme is involved in the biochemical pathways the body uses to produce purines, one of the components of DNA and RNA. Defects of this enzyme lead to increased production of uric acid. Since the 'HPRT' gene is located on the X chromosome, LNS is an X-linked inherited disease.

Smith–Fineman–Myers syndrome

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Smith–Fineman–Myers syndrome

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Simpson–Golabi–Behmel syndrome

Foster–Kennedy syndrome

The human brain. Differences in male and female brain size are relative to body size.

Foster–Kennedy syndrome

A typical cleft lip, seen in a five-month-old infant.

Malpuech facial clefting syndrome

2-Methylbutyryl-CoA dehydrogenase deficiency has an autosomal recessive pattern of inheritance. The disorder is caused by a mutation in the 'ACADSB' gene, located on the long arm of human chromosome 10 (10q25-q26). It is inherited in an autosomal recessive manner, which means an affected individual must inherit one copy of the mutation from each parent.

Malpuech facial clefting syndrome

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Wikipedia

Human disease network - WikipediaPashayan syndrome - WikipediaLaptop Heat May Cause 'Toasted Skin Syndrome' - Slashdot

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Reported cases - Summary of cases reported on this diseaseWHO - World Health OrganizationPubMed - A service of the National Library of Medicine and National Institutes of HealthMEDLINE - Literature from the National Library of MedicineMeSH - Medical Subject HeadingsDeCS - Health Sciences Descriptors

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