01
ENPP1
ectonucleotide pyrophosphatase/phosphodiesterase 1
ectonucleotide pyrophosphatase/phosphodiesterase 1
Diseases
Autosomal dominant hypophosphatemic rickets
autosomal dominant hypophosphatemic rickets
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
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Core Information
- Disease Name
- Autosomal dominant hypophosphatemic rickets
- Standard Disease Name
- autosomal dominant hypophosphatemic rickets
- MeSH Tree
- No data
- ICD-10
- D68.9
Identifiers
- DO ID
- No data
- MeSH ID
- D001778
- OMIM ID
- MTHU033936|MTHU008649
- UMLS ID
- C0005779
- HPO ID
- No data
Description and Extensions
- Description
- SNOMEDCT_US_2016_09_01:Disorders involving the elements of blood coagulation, including platelets, coagulation factors and inhibitors, and the fibrinolytic system|NCI2016_NICHD_1602D:A condition of abnormal blood clotting or bleeding.|NCI2016_02D:A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood.|MSH2017_2016_08_12:Hemorrhagic and thrombotic disorders that occur as a consequence of abnormalities in blood coagulation due to a variety of factors such as COAGULATION PROTEIN DISORDERS; BLOOD PLATELET DISORDERS; BLOOD PROTEIN DISORDERS or nutritional conditions.|HPO2016_07_04:An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators. [HPO:probinson]|CSP2006:condition in which there is a deviation from or interruption of the normal coagulation properties of the blood.
Related
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