Display Settings:

Format
Items per page

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

Results: 16

1.

Hypophosphatasia

Hypophosphatasia is characterized by defective mineralization of bone and/or teeth in the presence of low activity of serum and bone alkaline phosphatase. Clinical features range from stillbirth without mineralized bone at the severe end to pathologic fractures of the lower extremities in later adulthood at the mild end. At least six clinical forms are currently recognized based on age at diagnosis and severity of features: Perinatal (lethal) hypophosphatasia characterized by respiratory insufficiency and hypercalcemia. Perinatal (benign) hypophosphatasia with prenatal skeletal manifestations that slowly resolve into the milder childhood or adult form. Infantile hypophosphatasia with onset between birth and age six months of rickets without elevated serum alkaline phosphatase activity. Childhood hypophosphatasia that ranges from low bone mineral density for age with unexplained fractures to rickets. Adult hypophosphatasia characterized by early loss of adult dentition and stress fractures and pseudofractures of the lower extremities in middle age. Odontohypophosphatasia characterized by premature exfoliation of primary teeth and/or severe dental caries as an isolated finding or as part of the above forms of hypophosphatasia. [from GeneReviews]

MedGen UID:
43799
Concept ID:
C0020630
Disease or Syndrome
2.

Infantile hypophosphatasia

Hypophosphatasia is characterized by defective mineralization of bone and/or teeth in the presence of low activity of serum and bone alkaline phosphatase. Clinical features range from stillbirth without mineralized bone at the severe end to pathologic fractures of the lower extremities in later adulthood at the mild end. At least six clinical forms are currently recognized based on age at diagnosis and severity of features: Perinatal (lethal) hypophosphatasia characterized by respiratory insufficiency and hypercalcemia. Perinatal (benign) hypophosphatasia with prenatal skeletal manifestations that slowly resolve into the milder childhood or adult form. Infantile hypophosphatasia with onset between birth and age six months of rickets without elevated serum alkaline phosphatase activity. Childhood hypophosphatasia that ranges from low bone mineral density for age with unexplained fractures to rickets. Adult hypophosphatasia characterized by early loss of adult dentition and stress fractures and pseudofractures of the lower extremities in middle age. Odontohypophosphatasia characterized by premature exfoliation of primary teeth and/or severe dental caries as an isolated finding or as part of the above forms of hypophosphatasia. [from GeneReviews]

MedGen UID:
75677
Concept ID:
C0268412
Disease or Syndrome
3.

Thyroid hormone plasma membrane transport defect

MedGen UID:
396060
Concept ID:
C1861101
Disease or Syndrome
4.

Hyperpigmentation, familial progressive, 2

Familial progressive hyperpigmentation (FPH) is an autosomal dominant disorder characterized by hyperpigmented patches in the skin, which are present in early infancy and increase in size and number with age (summary by Wang et al., 2009). For a discussion of genetic heterogeneity of FPH, see FPH1 (614233). [from OMIM]

MedGen UID:
333550
Concept ID:
C1840392
Disease or Syndrome
5.

Hereditary pyropoikilocytosis

Hereditary pyropoikilocytosis was originally described by Zarkowsky et al. (1975) as a distinct hemolytic anemia characterized by microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells. HPP is a subset of hereditary elliptocytosis (see 611804) due to homozygous or compound heterozygous mutations in spectrin leading to severe disruption of spectrin self-association (review by An and Mohandas, 2008). [from OMIM]

MedGen UID:
141708
Concept ID:
C0520739
Disease or Syndrome
6.

Severe

A term used to describe cells that look abnormal under a microscope. These cells are more likely to grow and spread quickly than cells in low-grade cancer or in growths that may become cancer. [from NCI]

MedGen UID:
104640
Concept ID:
C0205082
7.

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
8.

Nutritional and Metabolic Diseases

A collective term for nutritional disorders resulting from poor absorption or nutritional imbalance, and metabolic disorders resulting from defects in biosynthesis (ANABOLISM) or breakdown (CATABOLISM) of endogenous substances. [from MeSH]

MedGen UID:
45164
Concept ID:
C0028715
Disease or Syndrome
9.

Metabolic Diseases

Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed) [from MeSH]

MedGen UID:
44376
Concept ID:
C0025517
Disease or Syndrome
10.

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES. [from MeSH]

MedGen UID:
14319
Concept ID:
C0027612
Disease or Syndrome
11.

Arginine

One of the twenty common amino acids (building blocks of proteins). Arginine is being studied as a nutritional supplement in the treatment and prevention of cancer and other conditions. [from NCI]

MedGen UID:
13907
Concept ID:
C0003765
Pharmacologic Substance
12.

Metal Metabolism, Inborn Errors

genetically determined biochemical disorders in metal absorption, metal excretion, metal transport, or incorporation of metal to protein or enzyme. [from CRISP]

MedGen UID:
6325
Concept ID:
C0025534
Disease or Syndrome
13.

Inborn error of metabolism

Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero. [from MeSH]

MedGen UID:
6323
Concept ID:
C0025521
Disease or Syndrome
14.

Heterogeneous

Made up of elements or ingredients that are not alike. [from NCI]

MedGen UID:
5539
Concept ID:
C0019409
15.

Essential amino acid

Amino acids that are not synthesized by the human body in amounts sufficient to carry out physiological functions. They are obtained from dietary foodstuffs. [from MeSH]

MedGen UID:
252
Concept ID:
C0002525
Pharmacologic Substance
16.

Amino acid

One of several molecules that join together to form proteins. There are 20 common amino acids found in proteins. [from NCI]

MedGen UID:
250
Concept ID:
C0002520
Pharmacologic Substance

Display Settings:

Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is temporarily unavailable.