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Dictionary » Hypophosphatasia
 

Hypophosphatasia

Introduction: Hypophosphatasia

Description of Hypophosphatasia

Hypophosphatasia (medical condition): A rare genetic disorder characterized by short limbs, dwarfism...more »

See also:

Hypophosphatasia:
  »Introduction: Hypophosphatasia
  »Symptoms of Hypophosphatasia

Hypophosphatasia: A genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia. Clinical manifestations include severe skeletal defects resembling vitamin D-resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes. (From Dorland, 27th ed)
Source: Diseases Database

Hypophosphatasia: genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia; manifestations include severe skeletal defects resembling vitamin D resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes.
Source: CRISP

Hypophosphatasia: A genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia. Clinical manifestations include severe skeletal defects resembling vitamin D-resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes. (From Dorland, 27th ed).
Source: MeSH 2007

Hypophosphatasia: Related Topics

These medical condition or symptom topics may be relevant to medical information for Hypophosphatasia:

Hypophosphatasia: Rare Disease

Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Hypophosphatasia is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Hypophosphatasia, or a subtype of Hypophosphatasia, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet

Ophanet, a consortium of European partners, currently defines a condition rare when if affects 1 person per 2,000. They list Hypophosphatasia as a "rare disease".

Source - Orphanet

Hypophosphatasia as a Disease

Hypophosphatasia (medical condition): See Hypophosphatasia (disease information).
  »Introduction: Hypophosphatasia
  »Symptoms of Hypophosphatasia

Hypophosphatasia: Related Diseases

Hypophosphatasia: Hypophosphatasia is listed as a type of (or associated with) the following medical conditions in our database:

More information on medical condition: Hypophosphatasia:

Hypophosphatasia: Related Disease Topics

These medical disease topics may be related to Hypophosphatasia:

Terms associated with Hypophosphatasia:

Terms Similar to Hypophosphatasia:

Source - NIH

Broader terms for Hypophosphatasia

Source - MeSH 2007

Source - CRISP

Other terms that may be related to Hypophosphatasia:

Source: CRISP

Hierarchical classifications of Hypophosphatasia

The following list attempts to classify Hypophosphatasia into categories where each line is subset of the next.

MeSH 2007 Hierarchy:

MeSH 2007 Hierarchy

External links related to: Hypophosphatasia

Source: Diseases Database

Interesting Medical Articles:

Medical dictionaries:

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