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Items: 8

1.

Hypoglycemia

A decreased concentration of glucose in the blood. [from HPO]

MedGen UID:
6979
Concept ID:
C0020615
Disease or Syndrome
2.

Disorder of cardiovascular system

A non-neoplastic or neoplastic disorder affecting the heart or the vessels (arteries, veins and lymph vessels). Representative examples of non-neoplastic cardiovascular disorders are endocarditis and hypertension. Representative examples of neoplastic cardiovascular disorders are endocardial myxoma and angiosarcoma. [from NCI]

MedGen UID:
2848
Concept ID:
C0007222
Disease or Syndrome
3.

Diabetic retinopathy

A chronic, pathological complication associated with diabetes mellitus, where retinal damages are incurred due to microaneurysms in the vasculature of the retina, progressively leading to abnormal blood vessel growth, and swelling and leaking of fluid from blood vessels, resulting in vision loss or blindness. [from NCI]

MedGen UID:
3786
Concept ID:
C0011884
Disease or Syndrome
4.

Glucocorticoid-remediable aldosteronism

Familial hyperaldosteronism type I (HALD1), also referred to as glucocorticoid-remediable aldosteronism (GRA), is an autosomal dominant disorder characterized by hypertension, variable hyperaldosteronism, and abnormal adrenal steroid production, including 18-oxocortisol and 18-hydroxycortisol (Lifton et al., 1992). There is significant phenotypic heterogeneity, and some individuals never develop hypertension (Stowasser et al., 2000). Genetic Heterogeneity of Familial Hyperaldosteronism Familial hyperaldosteronism type II (HALD2; 605635) is caused by mutation in the CLCN2 gene (600570) on chromosome 3q27. Familial hyperaldosteronism type III (HALD3; 613677) is caused by mutation in the KCNJ5 gene (600734) on chromosome 11q24. Familial hyperaldosteronism type IV (HALD4; 617027) is caused by mutation in the CACNA1H gene (607904) on chromosome 16p13. [from OMIM]

MedGen UID:
824577
Concept ID:
C3838731
Disease or Syndrome
5.

Retinal disorder

Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality. [from HPO]

MedGen UID:
11209
Concept ID:
C0035309
Disease or Syndrome
6.

Peripheral neuropathy

Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. [from HPO]

MedGen UID:
18386
Concept ID:
C0031117
Disease or Syndrome
7.

Recurrent hypoglycemia

Recurrent episodes of decreased concentration of glucose in the blood. [from HPO]

MedGen UID:
335382
Concept ID:
C1846288
Finding
8.

Acute disease

Any disease of sudden onset AND/OR short duration [from SNOMEDCT_US]

MedGen UID:
1738
Concept ID:
C0001314
Disease or Syndrome
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