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Items: 5

1.

Cranioosteoarthropathy

A form of primary hypertrophic osteoarthropathy with characteristics of delayed closure of the cranial sutures and fontanelles, digital clubbing, arthropathy, and periostosis. To date, about 30 cases have been reported. May also be associated with congenital heart disease. It is caused by mutations in the HPGD gene (4q33-q34) and is inherited as an autosomal recessive trait. [from SNOMEDCT_US]

MedGen UID:
394824
Concept ID:
C2678439
Disease or Syndrome
2.

Neonatal onset

Onset of signs or symptoms of disease within the first 28 days of life. [from HPO]

MedGen UID:
344421
Concept ID:
C1855106
Finding
3.

Succinyl-CoA acetoacetate transferase deficiency

Ketone bodies are major vectors of energy transfer from the liver to extrahepatic tissues and are the main source of lipid-derived energy for the brain. Mitchell et al. (1995) reviewed medical aspects of ketone body metabolism, including the differential diagnosis of abnormalities. As the first step of ketone body utilization, succinyl-CoA:3-oxoacid CoA transferase (SCOT, or OXCT1; EC 2.8.3.5) catalyzes the reversible transfer of CoA from succinyl-CoA to acetoacetate. [from OMIM]

MedGen UID:
137979
Concept ID:
C0342792
Disease or Syndrome
4.

Onset

The age group in which disease manifestations appear. [from HPO]

MedGen UID:
64519
Concept ID:
C0206132
Quantitative Concept
5.

Metabolic ketoacidosis

MedGen UID:
381478
Concept ID:
C1854704
Pathologic Function
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